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["突变编号","总深度","突变深度","突变率","样品编号","基因","染色体位置","核酸改变","氨基酸改变","rs编号","次要基因型频率","千人基因组(中国)","千人基因组(中国南方)","千人基因组(中国北方)","德易东方MAF频率","ExAC数据库频率","杂合/纯合","与疾病相关性","相关性说明","PubMed文献号","疾病表型名称","遗传方式","基因所关联疾病表型","突变级别","遗传学意义评级","该基因致病突变数","基因关联疾病数","基因","覆盖度","平均深度","突变类型","生物学意义编号","原深度","是否重复区域","基因ID","基因Location","mRNA变体名称(NM)"]
["12308A(99)v6630",8,1,0.12,"12308A","A1BG","chr19:58863800","c.462G>A(E4)","p.154,G>G",{"$nulls":6},0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"A1BG",0.92,7.4,"同义",13403,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12308A(99)v6631",11,1,0.09,"12308A","A1BG","chr19:58864446","c.188T>C(E3)","p.63,N>S",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"A1BG",0.92,7.4,"错义",12420,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12308A(99)v6632",9,9,1,"12308A","A1BG","chr19:58864479","c.155T>C(E3)","p.52,H>R","rs893184",0.85,0.92,0.94,0.89,0.82,0.91,"纯合","无关","有rs号，MAF>=5%",23690342,{"$nulls":3},5,null,5,0,"A1BG",0.92,7.4,"错义",12220,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12308A(99)v6633",8,1,0.12,"12308A","A1BG","chr19:58864509","c.125A>G(E3)","p.42,L>S",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"A1BG",0.92,7.4,"错义",12420,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12308A(99)v6634",8,8,1,"12308A","A1BG","chr19:58858232-58858232","m.1706(E8):缺失C","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,5,0,"A1BG",0.92,7.4,"非编码区",2420,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12308A(99)v8404",153,2,0.01,"12308A","A1CF","chr10:52610426-52610426","c.122(E5):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,1,0,"A1CF",1,210,"缺失移码",2140,"0.01=2/169","位于基因组单拷贝区域+DNA结构正常",29974,"10q11.23","NM_001198819.1"]
["12308A(99)v16249",92,91,0.99,"12308A","A2M","chr12:9248233","c.1915T>C(E16)","p.639,N>D","rs226405",null,1,1,1,0.97,1,"纯合","未知","未知",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,2,2,"A2M",1,210,"错义",12330,"0.99=169/170","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12308A(99)v16249",92,91,0.99,"12308A","A2M","chr12:9248233","c.1915T>C(E16)","p.639,N>D","rs226405",null,1,1,1,0.97,1,"纯合","未知","未知",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,2,2,"A2M",1,210,"错义",12330,"0.99=169/170","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12308A(99)v16250",143,2,0.01,"12308A","A2M","chr12:9252105-9252105","c.1573(E14):缺失A","缺失移码",{"$nulls":5},0,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,1,1,2,2,"A2M",1,210,"缺失移码",2140,"0.02=3/157","位于基因组单拷贝区域+简单重复结构",2,"12p13.31","NM_000014.4"]
["12308A(99)v16250",143,2,0.01,"12308A","A2M","chr12:9252105-9252105","c.1573(E14):缺失A","缺失移码",{"$nulls":5},0,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"α2-巨球蛋白缺乏症","AD",614036,1,1,2,2,"A2M",1,210,"缺失移码",2140,"0.02=3/157","位于基因组单拷贝区域+简单重复结构",2,"12p13.31","NM_000014.4"]
["12308A(99)v24300",94,94,1,"12308A","A2ML1","chr12:9004512","c.2367G>A(E19)","p.789,P>P","rs1860927",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"A2ML1",1,160,"同义",13303,"0.98=179/182","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12308A(99)v24301",61,61,1,"12308A","A2ML1","chr12:9020489","c.3769A>G(E30)","p.1257,M>V","rs7308811",null,1,1,1,0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"A2ML1",1,160,"错义",12320,"1.00=104/104","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12308A(99)v24302",50,50,1,"12308A","A2ML1","chr12:9016573","c.3686A>G(E29)","p.1229,H>R","rs10219561",null,1,1,1,0.96,1,"纯合","未知","未知",{"$nulls":4},3,null,7,0,"A2ML1",1,160,"错义",12330,"1.00=77/77","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12308A(99)v24303",86,86,1,"12308A","A2ML1","chr12:9004892","c.2550C>A(E20)","p.850,D>E","rs1860926",null,1,1,1,0.99,1,"纯合","未知","未知",{"$nulls":4},3,null,7,0,"A2ML1",1,160,"错义",12330,"1.00=147/147","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12308A(99)v24304",117,58,0.5,"12308A","A2ML1","chr12:8975901","c.186C>T(E2)","p.62,T>T","rs17792974",null,0.21,0.23,0.19,0.2,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"A2ML1",1,160,"同义",13303,"0.47=94/198","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12308A(99)v24305",103,52,0.5,"12308A","A2ML1","chr12:9020912","c.4020A>G(E31)","p.1340,Q>Q","rs1476910",null,0.48,0.48,0.48,0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"A2ML1",1,160,"同义",13303,"0.53=90/169","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12308A(99)v24306",149,149,1,"12308A","A2ML1","chr12:9013755","c.3364C>T(E28)","p.1122,R>W","rs1860967",null,0.83,0.83,0.83,0.77,0.78,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"A2ML1",1,160,"错义",12320,"1.00=250/250","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12308A(99)v16552",7,3,0.43,"12308A","A4GALT","chr22:43089849","c.109T>C(E3)","p.37,M>V","rs11541159",0.35,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,2,1,"A4GALT",1,17,"错义",12220,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436.4"]
["12308A(99)v16553",16,8,0.5,"12308A","A4GALT","chr22:43089055","c.903G>C(E3)","p.301,P>P","rs6002904",0.7,0.68,0.69,0.67,0.65,0.72,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,2,1,"A4GALT",1,17,"同义",13203,"0.60=18/30","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436.4"]
["12308A(99)v29",3,3,1,"12308A","A4GNT","chr3:137843018","m.1313G>C(E3)","非编码区","rs1564496",null,0.69,0.68,0.71,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A4GNT",1,110,"非编码区",14300,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12308A(99)v30",80,80,1,"12308A","A4GNT","chr3:137843476","c.653G>T(E3)","p.218,A>D","rs2246945",0.65,0.69,0.68,0.71,0.68,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"错义",12220,"1.00=129/129","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12308A(99)v31",54,31,0.57,"12308A","A4GNT","chr3:137850003","c.96A>G(E2)","p.32,C>C","rs2724691",0.61,0.6,0.6,0.6,0.54,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"0.55=42/76","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12308A(99)v32",25,25,1,"12308A","A4GNT","chr3:137843106","c.1023T>C(E3)","p.341,X>X","rs2170309",0.65,0.69,0.68,0.71,0.67,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"1.00=48/48","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12308A(99)v18081",35,35,1,"12308A","AAAS","chr12:53703021","c.756G>A(E8)","p.252,F>F","rs1546808",0.92,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,85,"同义",13203,"1.00=51/51","位于基因组单拷贝区域+DNA结构正常",8086,"12q13","NM_001173466.1"]
["12308A(99)v18082",7,1,0.14,"12308A","AAAS","chr12:53715280","m.133C>T(E1)","非编码区",{"$nulls":5},0.0011,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"弛缓不能Addison病无泪腺症综合征","AR",231550,3,3,2,1,"AAAS",1,85,"非编码区",14400,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",8086,"12q13","NM_001173466.1"]
["12308A(99)v6",6,6,1,"12308A","AACS","chr12:125621419","IVS17+9A>G","非编码区","rs41473449",0.37,0.55,0.57,0.53,null,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AACS",1,100,"非编码区",16203,"1.00=8/8","位于基因组多拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928.3"]
["12308A(99)v6361",76,31,0.41,"12308A","AADACL3","chr1:12776344","c.1A>T(E1)","p.1,M>L","rs3000859",0.66,0.66,0.69,0.63,0.63,0.64,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,4,0,"AADACL3",1,130,"错义",18220,"0.40=49/124","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12308A(99)v6362",28,9,0.32,"12308A","AADACL3","chr1:12776218","m.101A>C(E1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AADACL3",1,130,"非编码区",14200,"0.35=13/37","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12308A(99)v6363",105,52,0.5,"12308A","AADACL3","chr1:12785494","c.374G>T(E3)","p.125,C>F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AADACL3",1,130,"错义",12210,"0.49=78/159","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12308A(99)v6364",11,3,0.27,"12308A","AADACL3","chr1:12776134","m.17C>A(E1)","非编码区","rs3010874",0.71,0.66,0.69,0.63,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AADACL3",1,130,"非编码区",14200,"0.27=3/11","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12308A(99)v29467",150,149,0.99,"12308A","AADAT","chr4:170987636","IVS9-7A>G","剪切位点","rs1480544",0.74,1,1,1,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AADAT",1,270,"剪切位点",16202,"0.99=260/262","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228.3"]
["12308A(99)v29468",2,1,0.5,"12308A","AADAT","chr4:171011055","m.129C>G(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AADAT",1,270,"非编码区",14400,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228.3"]
["12308A(99)v29469",230,63,0.27,"12308A","AADAT","chr4:170991812-170991815","IVS5-9至IVS5-12:缺失GGTT","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"AADAT",1,270,"非编码区",2500,"0.28=77/274","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228.3"]
["12308A(99)v30701",185,185,1,"12308A","AAGAB","chr15:67528374","c.394T>G(E4)","p.132,I>L","rs7173826",0.36,0.63,0.63,0.64,0.62,0.66,"纯合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,280,"错义",12220,"1.00=342/343","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666.3"]
["12308A(99)v30702",8,8,1,"12308A","AAGAB","chr15:67494922","m.1290T>C(E10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,280,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666.3"]
["12308A(99)v30703",5,5,1,"12308A","AAGAB","chr15:67494823","m.1389G>C(E10)","非编码区","rs10518716",0.26,0.47,0.4,0.53,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,280,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666.3"]
["12308A(99)v19737",76,39,0.51,"12308A","AAK1","chr2:69692523","m.13869T>C(E22)","非编码区","rs77961083",0.084,0.21,0.2,0.23,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AAK1",1,170,"非编码区",14200,"0.48=56/117","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12308A(99)v19738",1,1,1,"12308A","AAK1","chr2:69686286","m.20106A>G(E22)","非编码区","rs7577689",0.67,0.47,0.45,0.48,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AAK1",1,170,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12308A(99)v19739",9,6,0.67,"12308A","AAK1","chr2:69746142","c.1441C>G(E12)","p.481,A>P","rs76509206",0.042,0.0024,0.0048,0,0.016,0.0062,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"AAK1",1,170,"错义",12120,"0.80=12/15","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12308A(99)v19740",55,55,1,"12308A","AAK1","chr2:69741854","c.1525T>G(E13)","p.509,K>Q","rs6715776",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AAK1",1,170,"错义",12230,"1.00=94/94","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12308A(99)v19741",13,1,0.08,"12308A","AAK1","chr2:69741659","c.1720G>A(E13)","p.574,Q>X",{"$nulls":7},"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,5,0,"AAK1",1,170,"截断",15400,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12308A(99)v30095",14,14,1,"12308A","AAMP","chr2:219129060","m.1585A>G(E11)","非编码区","rs2382816",0.96,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AAMP",1,64,"非编码区",14200,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",14,"2q35","NM_001087.3"]
["12308A(99)v19751",12,1,0.08,"12308A","AANAT","chr17:74464911","c.83G>T(E2)","p.28,R>L","rs377349199",{"$nulls":4},0.0008,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"睡眠相位后移综合征易感",null,614163,2,2,1,1,"AANAT",0.6,20,"错义",12310,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",15,"17q25","NM_001088.2"]
["12308A(99)v8432",94,49,0.52,"12308A","AARD","chr8:117954810","c.338T>C(E2)","p.113,F>S","rs114091176",0.013,0.07,0.062,0.078,0.078,0.075,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AARD",1,54,"错义",12110,"0.54=96/178","位于基因组单拷贝区域+DNA结构正常",441376,"8q24.11","NM_001025357.2"]
["12308A(99)v23853",30,18,0.6,"12308A","AARS","chr16:70303580","c.903G>A(E7)","p.301,H>H","rs2070203",0.43,0.37,0.4,0.33,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,130,"同义",13203,"0.69=41/59","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605.2"]
["12308A(99)v23854",34,34,1,"12308A","AARS","chr16:70287177","c.2715A>G(E20)","p.905,V>V","rs4081753",0.88,0.96,0.97,0.95,0.94,0.97,"纯合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,130,"同义",13203,"0.98=61/62","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605.2"]
["12308A(99)v14072",2,2,1,"12308A","AARS2","chr6:44268135","m.3110C>T(E22)","非编码区","rs325009",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,3,2,"AARS2",1,51,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12308A(99)v14072",2,2,1,"12308A","AARS2","chr6:44268135","m.3110C>T(E22)","非编码区","rs325009",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,3,2,"AARS2",1,51,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12308A(99)v14073",14,14,1,"12308A","AARS2","chr6:44275011","c.1015T>C(E6)","p.339,I>V","rs324136",0.89,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,3,2,"AARS2",1,51,"错义",12230,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12308A(99)v14073",14,14,1,"12308A","AARS2","chr6:44275011","c.1015T>C(E6)","p.339,I>V","rs324136",0.89,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,3,2,"AARS2",1,51,"错义",12230,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12308A(99)v14074",11,11,1,"12308A","AARS2","chr6:44268371","c.2871T>C(E22)","p.957,S>S","rs325008",null,1,1,1,0.92,1,"纯合","未知","预测范围之外的同义突变",null,"联合氧化磷酸化缺陷8型","AR",614096,4,1,3,2,"AARS2",1,51,"同义",13303,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12308A(99)v14074",11,11,1,"12308A","AARS2","chr6:44268371","c.2871T>C(E22)","p.957,S>S","rs325008",null,1,1,1,0.92,1,"纯合","未知","预测范围之外的同义突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,4,1,3,2,"AARS2",1,51,"同义",13303,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12308A(99)v6255",50,50,1,"12308A","AARSD1","chr17:41116234","c.60G>A(E2)","p.20,S>S","rs690941",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AARSD1",1,140,"同义",13203,"1.00=70/70","位于基因组单拷贝区域+DNA结构正常",80755,"17q21.31","NM_001261434.1"]
["12308A(99)v12256",131,131,1,"12308A","AASDH","chr4:57250285","c.181T>C(E2)","p.61,I>V","rs34543011",0.065,0.18,0.21,0.16,0.21,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AASDH",1,190,"错义",12220,"1.00=230/230","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12308A(99)v12257",145,144,0.99,"12308A","AASDH","chr4:57248716","c.278G>C(E3)","p.93,P>R","rs34228795",0.065,0.18,0.21,0.16,0.21,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AASDH",1,190,"错义",12210,"1.00=263/264","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12308A(99)v12258",76,76,1,"12308A","AASDH","chr4:57221348","c.1103T>C(E6)","p.368,K>R","rs3796543",0.065,0.18,0.21,0.16,0.2,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AASDH",1,190,"错义",12220,"1.00=110/110","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12308A(99)v21586",56,30,0.54,"12308A","AATF","chr17:35346641","c.1245T>C(E7)","p.415,S>S","rs1045056",0.16,0.017,0.0048,0.029,0.026,0.039,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AATF",1,220,"同义",13203,"0.55=42/76","位于基因组单拷贝区域+DNA结构正常",26574,"17q12","NM_012138.3"]
["12308A(99)v24121",2,2,1,"12308A","AATK","chr17:79095144","c.2592G>A(E11)","p.864,A>A","rs8073904",0.81,0.86,0.87,0.85,0.71,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AATK",0.74,4.1,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395.2"]
["12308A(99)v30434",44,18,0.41,"12308A","ABAT","chr16:8873456","IVS15+9T>C","非编码区","rs1079348",0.35,0.33,0.35,0.32,0.34,0.36,"杂合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,130,"非编码区",16203,"0.34=27/79","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12308A(99)v30435",34,13,0.38,"12308A","ABAT","chr16:8868776","c.984C>A(E13)","p.328,V>V","rs1641022",0.32,0.44,0.42,0.47,0.41,0.4,"杂合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,130,"同义",13203,"0.40=19/48","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12308A(99)v30436",152,71,0.47,"12308A","ABAT","chr16:8841960","IVS3-5T>C","剪切位点","rs1641010",0.47,0.59,0.57,0.62,0.57,0.59,"杂合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,130,"剪切位点",16202,"0.45=129/286","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12308A(99)v30437",79,39,0.49,"12308A","ABAT","chr16:8839954","c.167A>G(E3)","p.56,Q>R","rs1731017",0.5,0.6,0.57,0.63,0.58,0.59,"杂合","无关","有rs号，MAF>=5%",15830322,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,130,"错义",12220,"0.50=67/133","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12308A(99)v28165",98,95,0.97,"12308A","ABCA1","chr9:107591272","c.2040G>T(E15)","p.680,I>I","rs2853579",0.34,0.74,0.73,0.74,0.69,0.71,"纯合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,1,7,3,"ABCA1",1,160,"同义",13203,"0.97=157/162","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28165",98,95,0.97,"12308A","ABCA1","chr9:107591272","c.2040G>T(E15)","p.680,I>I","rs2853579",0.34,0.74,0.73,0.74,0.69,0.71,"纯合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"同义",13203,"0.97=157/162","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28165",98,95,0.97,"12308A","ABCA1","chr9:107591272","c.2040G>T(E15)","p.680,I>I","rs2853579",0.34,0.74,0.73,0.74,0.69,0.71,"纯合","无关","有rs号，MAF>=5%",null,"原发性α低脂蛋白血症",null,604091,5,1,7,3,"ABCA1",1,160,"同义",13203,"0.97=157/162","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28166",121,60,0.5,"12308A","ABCA1","chr9:107588033","c.2473C>T(E17)","p.825,V>I","rs2066715",0.11,0.42,0.43,0.41,0.36,0.42,"杂合","无关","有rs号，MAF>=5%","17430597;19041386;19606474;21247457;23355348","丹吉尔病","AR",205400,5,3,7,3,"ABCA1",1,160,"错义",12220,"0.49=102/209","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28166",121,60,0.5,"12308A","ABCA1","chr9:107588033","c.2473C>T(E17)","p.825,V>I","rs2066715",0.11,0.42,0.43,0.41,0.36,0.42,"杂合","无关","有rs号，MAF>=5%","17430597;19041386;19606474;21247457;23355348","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"错义",12220,"0.49=102/209","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28166",121,60,0.5,"12308A","ABCA1","chr9:107588033","c.2473C>T(E17)","p.825,V>I","rs2066715",0.11,0.42,0.43,0.41,0.36,0.42,"杂合","无关","有rs号，MAF>=5%","17430597;19041386;19606474;21247457;23355348","原发性α低脂蛋白血症",null,604091,5,2,7,3,"ABCA1",1,160,"错义",12220,"0.49=102/209","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28167",161,82,0.51,"12308A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","丹吉尔病","AR",205400,5,3,7,3,"ABCA1",1,160,"错义",12220,"0.49=135/278","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28167",161,82,0.51,"12308A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"错义",12220,"0.49=135/278","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28167",161,82,0.51,"12308A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","原发性α低脂蛋白血症",null,604091,5,2,7,3,"ABCA1",1,160,"错义",12220,"0.49=135/278","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28168",107,107,1,"12308A","ABCA1","chr9:107620867","c.656C>T(E7)","p.219,R>K","rs2230806",0.44,0.44,0.42,0.47,0.44,0.45,"纯合","无关","有疾病相关报道，MAF>=5%","12600718;16725228;17324514;17430597;17553166;18974877;19041386;19606474;20170916;20185793;20797885;21310416;22668585;23021345;23111454;23372063;23533563;24854628;","丹吉尔病","AR",205400,5,1,7,3,"ABCA1",1,160,"错义",11200,"1.00=180/180","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28168",107,107,1,"12308A","ABCA1","chr9:107620867","c.656C>T(E7)","p.219,R>K","rs2230806",0.44,0.44,0.42,0.47,0.44,0.45,"纯合","无关","有疾病相关报道，MAF>=5%","12600718;16725228;17324514;17430597;17553166;18974877;19041386;19606474;20170916;20185793;20797885;21310416;22668585;23021345;23111454;23372063;23533563;24854628;","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"错义",11200,"1.00=180/180","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28168",107,107,1,"12308A","ABCA1","chr9:107620867","c.656C>T(E7)","p.219,R>K","rs2230806",0.44,0.44,0.42,0.47,0.44,0.45,"纯合","无关","有疾病相关报道，MAF>=5%","12600718;16725228;17324514;17430597;17553166;18974877;19041386;19606474;20170916;20185793;20797885;21310416;22668585;23021345;23111454;23372063;23533563;24854628;","原发性α低脂蛋白血症",null,604091,5,1,7,3,"ABCA1",1,160,"错义",11200,"1.00=180/180","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28169",81,81,1,"12308A","ABCA1","chr9:107586753","c.2649T>C(E18)","p.883,I>M","rs2066714",0.36,0.74,0.74,0.74,0.68,0.72,"纯合","无关","有rs号，MAF>=5%","17430597;17855807;19041386;19406964;19606474;22668585;23111454;23262498;24942079","丹吉尔病","AR",205400,5,1,7,3,"ABCA1",1,160,"错义",12220,"1.00=129/129","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28169",81,81,1,"12308A","ABCA1","chr9:107586753","c.2649T>C(E18)","p.883,I>M","rs2066714",0.36,0.74,0.74,0.74,0.68,0.72,"纯合","无关","有rs号，MAF>=5%","17430597;17855807;19041386;19406964;19606474;22668585;23111454;23262498;24942079","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"错义",12220,"1.00=129/129","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28169",81,81,1,"12308A","ABCA1","chr9:107586753","c.2649T>C(E18)","p.883,I>M","rs2066714",0.36,0.74,0.74,0.74,0.68,0.72,"纯合","无关","有rs号，MAF>=5%","17430597;17855807;19041386;19406964;19606474;22668585;23111454;23262498;24942079","原发性α低脂蛋白血症",null,604091,5,1,7,3,"ABCA1",1,160,"错义",12220,"1.00=129/129","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28170",128,128,1,"12308A","ABCA1","chr9:107624029","c.474C>T(E6)","p.158,L>L","rs2230805",0.37,0.41,0.4,0.43,0.4,0.42,"纯合","无关","有rs号，MAF>=5%","17553166;19606474;20167577","丹吉尔病","AR",205400,5,1,7,3,"ABCA1",1,160,"同义",13203,"1.00=212/213","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28170",128,128,1,"12308A","ABCA1","chr9:107624029","c.474C>T(E6)","p.158,L>L","rs2230805",0.37,0.41,0.4,0.43,0.4,0.42,"纯合","无关","有rs号，MAF>=5%","17553166;19606474;20167577","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"同义",13203,"1.00=212/213","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28170",128,128,1,"12308A","ABCA1","chr9:107624029","c.474C>T(E6)","p.158,L>L","rs2230805",0.37,0.41,0.4,0.43,0.4,0.42,"纯合","无关","有rs号，MAF>=5%","17553166;19606474;20167577","原发性α低脂蛋白血症",null,604091,5,1,7,3,"ABCA1",1,160,"同义",13203,"1.00=212/213","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28171",28,12,0.43,"12308A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,3,7,3,"ABCA1",1,160,"同义",13203,"0.46=21/46","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28171",28,12,0.43,"12308A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"同义",13203,"0.46=21/46","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v28171",28,12,0.43,"12308A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"原发性α低脂蛋白血症",null,604091,5,2,7,3,"ABCA1",1,160,"同义",13203,"0.46=21/46","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12308A(99)v26038",96,43,0.45,"12308A","ABCA10","chr17:67215712","c.504C>T(E7)","p.168,V>V","rs12941264",0.6,0.31,0.36,0.26,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"同义",13203,"0.42=65/156","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12308A(99)v26039",108,57,0.53,"12308A","ABCA10","chr17:67144884","m.5595G>T(E40)","非编码区","rs1974578",0.49,0.32,0.38,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"非编码区",14200,"0.51=87/170","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12308A(99)v26040",6,4,0.67,"12308A","ABCA10","chr17:67144684","m.5795T>A(E40)","非编码区","rs1974577",0.71,0.47,0.51,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"非编码区",14200,"0.40=4/10","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12308A(99)v26041",68,32,0.47,"12308A","ABCA10","chr17:67178954","IVS21-5C>T","剪切位点","rs4968851",0.69,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"剪切位点",16202,"0.49=47/96","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12308A(99)v26042",133,65,0.49,"12308A","ABCA10","chr17:67212423","c.607G>A(E8)","p.203,P>S","rs9909216",0.58,0.31,0.36,0.27,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"错义",12220,"0.46=105/226","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12308A(99)v26043",154,77,0.5,"12308A","ABCA10","chr17:67178316","c.2747A>G(E23)","p.916,M>T","rs4968849",0.71,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"错义",12220,"0.46=127/278","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12308A(99)v26044",82,38,0.46,"12308A","ABCA10","chr17:67210992","c.859T>C(E10)","p.287,I>V","rs11657804",0.26,0.25,0.29,0.21,0.18,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"错义",12220,"0.47=60/127","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12308A(99)v26045",108,54,0.5,"12308A","ABCA10","chr17:67212031","c.783A>G(E9)","p.261,Y>Y","rs11077414",null,0.31,0.36,0.27,0.27,0.3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"ABCA10",1,270,"同义",13303,"0.52=90/174","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12308A(99)v25579",108,58,0.54,"12308A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,3,4,2,"ABCA12",1,250,"同义",13203,"0.50=89/177","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12308A(99)v25579",108,58,0.54,"12308A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,4,2,"ABCA12",1,250,"同义",13203,"0.50=89/177","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12308A(99)v25580",63,63,1,"12308A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,1,4,2,"ABCA12",1,250,"错义",12220,"1.00=98/98","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12308A(99)v25580",63,63,1,"12308A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,1,4,2,"ABCA12",1,250,"错义",12220,"1.00=98/98","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12308A(99)v25581",240,117,0.49,"12308A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,3,4,2,"ABCA12",1,250,"同义",13203,"0.50=219/435","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076.2"]
["12308A(99)v25581",240,117,0.49,"12308A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,4,2,"ABCA12",1,250,"同义",13203,"0.50=219/435","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076.2"]
["12308A(99)v25582",33,7,0.21,"12308A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,3,4,2,"ABCA12",1,250,"非编码区",2600,"0.20=7/35","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12308A(99)v25582",33,7,0.21,"12308A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,4,2,"ABCA12",1,250,"非编码区",2600,"0.20=7/35","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12308A(99)v19879",74,38,0.51,"12308A","ABCA13","chr7:48315796","c.6533C>A(E17)","p.2178,A>E","rs1880736",0.81,0.99,1,0.98,0.98,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"0.45=49/108","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19880",19,9,0.47,"12308A","ABCA13","chr7:48450157","c.12111T>C(E40)","p.4037,A>A","rs17548783",0.46,0.64,0.59,0.69,0.61,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"同义",13203,"0.55=18/33","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19881",101,52,0.51,"12308A","ABCA13","chr7:48506642","c.12905A>G(E44)","p.4302,Q>R","rs4917153",0.23,0.22,0.18,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"0.52=87/167","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19882",85,39,0.46,"12308A","ABCA13","chr7:48318811","c.8020C>T(E18)","p.2674,R>W","rs2222648",0.85,0.99,1,0.98,0.96,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"0.44=59/134","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19883",165,94,0.57,"12308A","ABCA13","chr7:48315360","c.6097A>G(E17)","p.2033,N>D","rs17661364",0.046,0.05,0.048,0.053,0.07,0.064,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,16,0,"ABCA13",1,170,"错义",12110,"0.58=151/259","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19884",136,60,0.44,"12308A","ABCA13","chr7:48237824","IVS2-10C>T","剪切位点","rs17060",0.22,0.31,0.31,0.3,null,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"剪切位点",16202,"0.41=93/227","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19885",207,86,0.42,"12308A","ABCA13","chr7:48336844","c.9135C>T(E22)","p.3045,L>L","rs6583546",0.77,0.99,1,0.98,0.99,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"同义",13203,"0.39=152/391","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19886",93,47,0.51,"12308A","ABCA13","chr7:48506566","c.12829A>G(E44)","p.4277,N>D","rs4917152",0.23,0.22,0.18,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"0.49=70/143","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19887",43,24,0.56,"12308A","ABCA13","chr7:48314798","c.5535G>T(E17)","p.1845,G>G","rs13233225",0.22,0.012,0.0048,0.019,0.008,0.012,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"同义",13203,"0.58=40/69","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19888",115,63,0.55,"12308A","ABCA13","chr7:48314279","c.5016G>A(E17)","p.1672,K>K","rs6955212",0.19,0.25,0.19,0.31,0.28,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"同义",13203,"0.53=92/172","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19889",105,56,0.53,"12308A","ABCA13","chr7:48319299","c.8508A>G(E18)","p.2836,E>E",{"$nulls":6},0.00023,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,16,0,"ABCA13",1,170,"同义",13403,"0.48=78/163","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19890",59,30,0.51,"12308A","ABCA13","chr7:48467355","IVS41-8T>C","剪切位点","rs13233421",0.28,0.37,0.37,0.36,null,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"剪切位点",16202,"0.56=55/99","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19891",73,31,0.42,"12308A","ABCA13","chr7:48313510","c.4247A>G(E17)","p.1416,H>R","rs17547830",0.19,0.014,0.0095,0.019,0.0069,0.012,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12210,"0.41=41/101","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19892",52,32,0.62,"12308A","ABCA13","chr7:48317683","IVS17-8A>T","剪切位点","rs10246853",0.21,0.012,0.0048,0.019,null,0.036,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"剪切位点",16202,"0.67=56/83","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19893",133,62,0.47,"12308A","ABCA13","chr7:48311563","c.2300T>G(E17)","p.767,I>S","rs17712293",0.19,0.25,0.19,0.31,0.28,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12210,"0.45=97/216","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v19894",74,74,1,"12308A","ABCA13","chr7:48545976","c.13336A>G(E49)","p.4446,K>E","rs6583448",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"1.00=114/114","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12308A(99)v11336",13,1,0.08,"12308A","ABCA2","chr9:139905128","c.6118G>T(E40)","p.2040,R>R",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ABCA2",0.92,12,"同义",13403,"0.17=4/24","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12308A(99)v11337",13,13,1,"12308A","ABCA2","chr9:139912484","c.2037A>G(E15)","p.679,D>D","rs908832",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%","15649702;16752360",{"$nulls":3},5,null,9,0,"ABCA2",0.92,12,"同义",13203,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12308A(99)v11338",14,14,1,"12308A","ABCA2","chr9:139904037","c.6690A>G(E44)","p.2230,L>L","rs7048567",0.72,0.83,0.83,0.84,0.81,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA2",0.92,12,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12308A(99)v11339",10,10,1,"12308A","ABCA2","chr9:139906359","c.5472G>A(E35)","p.1824,H>H","rs2271862",0.69,0.83,0.82,0.84,0.76,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA2",0.92,12,"同义",13203,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12308A(99)v11340",1,1,1,"12308A","ABCA2","chr9:139902214","m.7626A>G(E49)","非编码区","rs10870161",0.93,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA2",0.92,12,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12308A(99)v11341",3,2,0.67,"12308A","ABCA2","chr9:139907219","c.5026C>T(E31)","p.1676,G>S","rs184422644",2.8E-3,0.012,0.014,0.0097,0.011,0.0095,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"ABCA2",0.92,12,"错义",12110,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12308A(99)v11342",2,1,0.5,"12308A","ABCA2","chr9:139908442","c.4289A>G(E28)","p.1430,L>P",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"ABCA2",0.92,12,"错义",12410,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12308A(99)v11343",9,9,1,"12308A","ABCA2","chr9:139913239","c.1751T>G(E13)","p.584,H>P","rs908828",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA2",0.92,12,"错义",12230,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12308A(99)v11344",1,1,1,"12308A","ABCA2","chr9:139923265","c.60A>G(E1)","p.20,A>A","rs4880189",0.77,0.79,0.75,0.82,0.63,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA2",0.92,12,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_212533.2"]
["12308A(99)v15896",43,18,0.42,"12308A","ABCA3","chr16:2376117","c.213G>A(E5)","p.71,F>F","rs117515055",0.0056,0.026,0.024,0.029,0.025,0.032,"杂合","未知","预测范围之外的同义突变",null,"肺泡蛋白沉着症3型","AR",610921,4,3,5,1,"ABCA3",1,43,"同义",13103,"0.45=30/67","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12308A(99)v15897",5,1,0.2,"12308A","ABCA3","chr16:2339586","c.2549T>C(E20)","p.850,Q>R",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"肺泡蛋白沉着症3型","AR",610921,2,3,5,1,"ABCA3",1,43,"错义",12410,"0.12=1/8","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12308A(99)v15898",30,30,1,"12308A","ABCA3","chr16:2331430","c.4116A>G(E27)","p.1372,S>S","rs149532",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",18317237,"肺泡蛋白沉着症3型","AR",610921,5,1,5,1,"ABCA3",1,43,"同义",13203,"1.00=54/54","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12308A(99)v15899",8,1,0.12,"12308A","ABCA3","chr16:2328326","c.4681G>T(E30)","p.1561,R>R",{"$nulls":5},0.00068,null,"杂合","未知","预测范围之外的同义突变",null,"肺泡蛋白沉着症3型","AR",610921,4,3,5,1,"ABCA3",1,43,"同义",13403,"0.20=2/10","位于基因组多拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12308A(99)v15900",9,1,0.11,"12308A","ABCA3","chr16:2347881","c.1938C>A(E16)","p.646,K>N",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"肺泡蛋白沉着症3型","AR",610921,3,3,5,1,"ABCA3",1,43,"错义",12420,"0.27=4/15","位于基因组多拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12308A(99)v14883",127,127,1,"12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"斯特格病变1型","AR",248200,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14883",127,127,1,"12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"视网膜色素变性19型-AR",null,601718,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14883",127,127,1,"12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"青少年型视网膜色素变性-AR","AR",613341,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14883",127,127,1,"12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14883",127,127,1,"12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"视锥-视杆细胞营养不良3型",null,604116,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14884",163,64,0.39,"12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","斯特格病变1型","AR",248200,5,3,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14884",163,64,0.39,"12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","视网膜色素变性19型-AR",null,601718,5,2,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14884",163,64,0.39,"12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","青少年型视网膜色素变性-AR","AR",613341,5,3,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14884",163,64,0.39,"12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14884",163,64,0.39,"12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","视锥-视杆细胞营养不良3型",null,604116,5,2,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14885",23,13,0.57,"12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14885",23,13,0.57,"12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14885",23,13,0.57,"12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14885",23,13,0.57,"12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14885",23,13,0.57,"12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14886",138,137,0.99,"12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14886",138,137,0.99,"12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14886",138,137,0.99,"12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14886",138,137,0.99,"12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14886",138,137,0.99,"12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12308A(99)v14887",173,73,0.42,"12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"斯特格病变1型","AR",248200,5,3,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12308A(99)v14887",173,73,0.42,"12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"视网膜色素变性19型-AR",null,601718,5,2,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12308A(99)v14887",173,73,0.42,"12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12308A(99)v14887",173,73,0.42,"12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12308A(99)v14887",173,73,0.42,"12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12308A(99)v19597",192,84,0.44,"12308A","ABCA5","chr17:67260926","c.3265A>G(E23)","p.1089,L>L","rs12449649",0.38,0.39,0.42,0.35,0.29,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCA5",1,290,"同义",13203,"0.41=130/317","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12308A(99)v19598",144,74,0.51,"12308A","ABCA5","chr17:67267317","c.2878T>C(E20)","p.960,M>V","rs557491",0.5,0.62,0.59,0.65,0.68,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCA5",1,290,"错义",12220,"0.53=134/251","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12308A(99)v19599",134,134,1,"12308A","ABCA5","chr17:67273882","c.2494C>A(E18)","p.832,A>S","rs536009",0.8,0.95,0.95,0.96,0.89,0.95,"纯合","无关","有rs号，MAF>=5%",24957074,{"$nulls":3},5,null,3,0,"ABCA5",1,290,"错义",12220,"0.99=232/234","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12308A(99)v2282",171,91,0.53,"12308A","ABCA6","chr17:67075072","m.5071G>A(E39)","非编码区","rs2302290",0.61,0.27,0.32,0.21,null,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,270,"非编码区",14200,"0.51=147/286","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12308A(99)v2283",187,86,0.46,"12308A","ABCA6","chr17:67125840","c.844C>T(E7)","p.282,V>I","rs4968839",0.56,0.45,0.5,0.41,0.37,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,270,"错义",12220,"0.47=159/339","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12308A(99)v2284",265,265,1,"12308A","ABCA6","chr17:67101718","c.2625C>T(E20)","p.875,M>I","rs7212506",0.75,0.85,0.86,0.84,0.86,0.85,"纯合","无关","有rs号，MAF>=5%",17486107,{"$nulls":3},5,null,4,0,"ABCA6",1,270,"错义",12220,"1.00=484/484","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12308A(99)v2285",141,64,0.45,"12308A","ABCA6","chr17:67081830","c.3965T>C(E31)","p.1322,N>S","rs2302134",0.46,0.32,0.37,0.28,0.25,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,270,"错义",12210,"0.44=122/275","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12308A(99)v23305",5,2,0.4,"12308A","ABCA7","chr19:1041852","c.183G>T(E4)","p.61,L>L","rs3764644",0.081,0.087,0.081,0.092,0.086,0.096,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"同义",13203,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23306",11,5,0.45,"12308A","ABCA7","chr19:1056065","c.4239A>G(E32)","p.1413,R>R","rs881768",0.44,0.39,0.4,0.39,0.34,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"剪切位点",13202,"0.42=5/12","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23307",70,33,0.47,"12308A","ABCA7","chr19:1058176","c.5057A>G(E37)","p.1686,Q>R","rs4147918",0.057,0.15,0.14,0.17,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",20018063,{"$nulls":3},5,null,15,0,"ABCA7",0.94,25,"错义",12220,"0.46=49/107","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23308",66,26,0.39,"12308A","ABCA7","chr19:1049012","IVS17+8A>C","非编码区","rs4147912",0.82,0.83,0.83,0.83,null,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"非编码区",16203,"0.38=43/114","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23309",7,4,0.57,"12308A","ABCA7","chr19:1047161","c.1851A>G(E15)","p.617,G>G","rs3752237",0.7,0.84,0.84,0.83,0.74,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"同义",13203,"0.75=12/16","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23310",20,9,0.45,"12308A","ABCA7","chr19:1042809","c.563A>G(E7)","p.188,E>G","rs3764645",0.4,0.51,0.51,0.51,0.47,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"错义",12210,"0.34=12/35","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23311",6,1,0.17,"12308A","ABCA7","chr19:1042314","c.416C>T(E6)","p.139,A>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,15,0,"ABCA7",0.94,25,"错义",12420,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23312",1,1,1,"12308A","ABCA7","chr19:1062164","IVS41-7T>C","剪切位点","rs4147920",0.1,0.15,0.14,0.17,null,0.16,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"剪切位点",16202,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23313",7,7,1,"12308A","ABCA7","chr19:1053524","c.3417C>G(E24)","p.1139,L>L","rs3752241",0.18,0.16,0.15,0.17,0.13,0.28,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23314",20,5,0.25,"12308A","ABCA7","chr19:1061804","c.5487T>C(E41)","p.1829,N>N","rs78320196",0.06,0.022,0.014,0.029,0.026,0.03,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"同义",13203,"0.24=8/33","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23315",31,12,0.39,"12308A","ABCA7","chr19:1043748","c.955A>G(E10)","p.319,T>A","rs3752232",0.11,0.087,0.081,0.092,0.083,0.085,"杂合","无关","有rs号，MAF>=5%",24530172,{"$nulls":3},5,null,15,0,"ABCA7",0.94,25,"错义",12220,"0.35=18/51","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23316",1,1,1,"12308A","ABCA7","chr19:1062192","c.5592T>C(E42)","p.1864,A>A","rs4147921",0.057,0.15,0.14,0.17,0.12,0.16,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23317",28,27,0.96,"12308A","ABCA7","chr19:1056492","c.4580G>C(E33)","p.1527,G>A","rs3752246",0.83,0.7,0.69,0.72,0.66,0.66,"纯合","无关","有rs号，MAF>=5%","21460841;23669301;24643655",{"$nulls":3},5,null,15,0,"ABCA7",0.94,25,"错义",12220,"0.98=45/46","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23318",3,3,1,"12308A","ABCA7","chr19:1044753","IVS11+10T>C","非编码区","rs3764648",{"$nulls":5},0.69,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,15,0,"ABCA7",0.94,25,"非编码区",16303,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v23319",10,5,0.5,"12308A","ABCA7","chr19:1054060","c.3528A>G(E26)","p.1176,L>L","rs3752243",0.54,0.42,0.42,0.41,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ABCA7",0.94,25,"同义",13203,"0.47=8/17","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12308A(99)v4966",90,90,1,"12308A","ABCA8","chr17:66872802","c.4122G>C(E32)","p.1374,P>P","rs1481",0.81,0.99,1,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCA8",1,260,"同义",13203,"0.99=159/160","位于基因组多拷贝区域+DNA结构正常",10351,"17q24","NM_007168.2"]
["12308A(99)v4967",342,2,0.01,"12308A","ABCA8","chr17:66878828-66878828","c.3620(E28):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"ABCA8",1,260,"缺失移码",2140,"0.01=2/390","位于基因组单拷贝区域+DNA结构正常",10351,"17q24","NM_007168.2"]
["12308A(99)v11083",190,190,1,"12308A","ABCA9","chr17:67031457","c.1058C>T(E8)","p.353,R>H","rs1860447",0.86,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCA9",1,250,"错义",12220,"0.99=305/308","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283.3"]
["12308A(99)v4822",112,112,1,"12308A","ABCB1","chr7:87229501","m.493T>C(E3)","非编码区","rs2214102",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"秋水仙碱抵抗",null,120080,5,1,3,2,"ABCB1",1,240,"非编码区",14200,"1.00=214/214","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12308A(99)v4822",112,112,1,"12308A","ABCB1","chr7:87229501","m.493T>C(E3)","非编码区","rs2214102",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"炎性肠病13型",null,612244,5,1,3,2,"ABCB1",1,240,"非编码区",14200,"1.00=214/214","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12308A(99)v4823",77,43,0.56,"12308A","ABCB1","chr7:87138645","c.3435A>G(E27)","p.1145,I>I","rs1045642",null,0.66,0.7,0.62,0.55,0.62,"杂合","未知","预测范围之外的同义突变","15197162;15805193;16999857;17146660;17366837;17548681;17674045;17913323;18182569;18213362;18285546;18424454;18518969;18547414;18698231;18725235;18784455;18812236;18854777;18936436;19155191;19193698;19197249;19285141;19373654;19437139;19694740;19740399;19930591;20170205;20214406;20354687;20389299;20533057;20859246;21102498;21172166;21185600;21247447;21332314;21364332;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22135187;22136368;22176633;22306099;22311042;22396794;22434582;22569204;22630058;22672924;22859359;22875622;22910404;23107763;23133420;23133441;23188198;23279665;23443032;23504525;23647060;23733030;23810503;23829278;23894093;23896815;23926124;23996099;24127120;24240480;24434428;24444408;24469730;24499375;24732756;24756092;24797400;24810093;24883056;24892773;24915124;24918524;24933103;24944790;24950410;24991206;25007187;25051347;25122423","秋水仙碱抵抗",null,120080,4,2,3,2,"ABCB1",1,240,"同义",13303,"0.58=68/118","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12308A(99)v4823",77,43,0.56,"12308A","ABCB1","chr7:87138645","c.3435A>G(E27)","p.1145,I>I","rs1045642",null,0.66,0.7,0.62,0.55,0.62,"杂合","未知","预测范围之外的同义突变","15197162;15805193;16999857;17146660;17366837;17548681;17674045;17913323;18182569;18213362;18285546;18424454;18518969;18547414;18698231;18725235;18784455;18812236;18854777;18936436;19155191;19193698;19197249;19285141;19373654;19437139;19694740;19740399;19930591;20170205;20214406;20354687;20389299;20533057;20859246;21102498;21172166;21185600;21247447;21332314;21364332;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22135187;22136368;22176633;22306099;22311042;22396794;22434582;22569204;22630058;22672924;22859359;22875622;22910404;23107763;23133420;23133441;23188198;23279665;23443032;23504525;23647060;23733030;23810503;23829278;23894093;23896815;23926124;23996099;24127120;24240480;24434428;24444408;24469730;24499375;24732756;24756092;24797400;24810093;24883056;24892773;24915124;24918524;24933103;24944790;24950410;24991206;25007187;25051347;25122423","炎性肠病13型",null,612244,4,2,3,2,"ABCB1",1,240,"同义",13303,"0.58=68/118","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12308A(99)v4824",204,119,0.58,"12308A","ABCB1","chr7:87160618","c.2677A>C(E22)","p.893,S>A","rs2032582",null,0.48,0.53,0.44,0.4,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","秋水仙碱抵抗",null,120080,3,2,3,2,"ABCB1",1,240,"错义",12320,"0.58=216/371","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12308A(99)v4824",204,119,0.58,"12308A","ABCB1","chr7:87160618","c.2677A>C(E22)","p.893,S>A","rs2032582",null,0.48,0.53,0.44,0.4,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","炎性肠病13型",null,612244,3,2,3,2,"ABCB1",1,240,"错义",12320,"0.58=216/371","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12308A(99)v22616",126,49,0.39,"12308A","ABCB10","chr1:229663065-229663069","IVS8-10至IVS8-14:缺失AGGAA","非编码区","rs113712941",1,1,1,1,0.11,1,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"ABCB10",0.77,140,"非编码区",2500,"0.39=62/159","位于基因组单拷贝区域+DNA结构正常",23456,"1q42.13","NM_012089.2"]
["12308A(99)v3256",240,133,0.55,"12308A","ABCB11","chr2:169870855","c.108A>G(E4)","p.36,D>D","rs3815675",0.063,0.3,0.26,0.34,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.56=226/403","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3256",240,133,0.55,"12308A","ABCB11","chr2:169870855","c.108A>G(E4)","p.36,D>D","rs3815675",0.063,0.3,0.26,0.34,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.56=226/403","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3257",64,64,1,"12308A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,5,2,"ABCB11",1,210,"错义",12320,"1.00=102/102","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3257",64,64,1,"12308A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","良性复发性肝内胆汁淤积2型","AR",605479,3,1,5,2,"ABCB11",1,210,"错义",12320,"1.00=102/102","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3258",159,92,0.58,"12308A","ABCB11","chr2:169847412","c.807A>G(E9)","p.269,Y>Y","rs2287616",0.065,0.31,0.27,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.59=181/309","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3258",159,92,0.58,"12308A","ABCB11","chr2:169847412","c.807A>G(E9)","p.269,Y>Y","rs2287616",0.065,0.31,0.27,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.59=181/309","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3259",51,21,0.41,"12308A","ABCB11","chr2:169789016","c.3084T>C(E24)","p.1028,A>A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.38=32/85","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3259",51,21,0.41,"12308A","ABCB11","chr2:169789016","c.3084T>C(E24)","p.1028,A>A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.38=32/85","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3260",2,2,1,"12308A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,5,2,"ABCB11",1,210,"非编码区",14300,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v3260",2,2,1,"12308A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"良性复发性肝内胆汁淤积2型","AR",605479,3,1,5,2,"ABCB11",1,210,"非编码区",14300,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12308A(99)v22781",93,40,0.43,"12308A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"进行性家族性肝内胆汁瘀积3型","AR",602347,5,3,1,3,"ABCB4",1,260,"同义",13203,"0.38=58/154","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12308A(99)v22781",93,40,0.43,"12308A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,1,3,"ABCB4",1,260,"同义",13203,"0.38=58/154","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12308A(99)v22781",93,40,0.43,"12308A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"I型胆囊疾病","AD,AR",600803,5,1,1,3,"ABCB4",1,260,"同义",13203,"0.38=58/154","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12308A(99)v13423",1,1,1,"12308A","ABCB5","chr7:20795617","m.4381G>A(E28)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"ABCB5",1,220,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12308A(99)v13424",124,56,0.45,"12308A","ABCB5","chr7:20685508","IVS8+5T>G","剪切位点","rs11983326",0.32,0.16,0.16,0.15,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABCB5",1,220,"剪切位点",16202,"0.44=88/199","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12308A(99)v13425",9,8,0.89,"12308A","ABCB5","chr7:20706645","m.1182G>T(E6)","非编码区","rs12535128",1,1,1,1,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABCB5",1,220,"非编码区",14200,"0.89=8/9","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163993.1"]
["12308A(99)v13426",1,1,1,"12308A","ABCB5","chr7:20655268","m.24C>G(E1)","非编码区","rs2106562",0.79,0.88,0.86,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABCB5",1,220,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12308A(99)v13427",2,2,1,"12308A","ABCB5","chr7:20706751","m.1288T>C(E6)","非编码区","rs12537843",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABCB5",1,220,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163993.1"]
["12308A(99)v13428",64,31,0.48,"12308A","ABCB5","chr7:20698270","c.1678A>G(E14)","p.560,K>E","rs2301641",0.36,0.16,0.17,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%","21298007;23770371",{"$nulls":3},5,null,7,0,"ABCB5",1,220,"错义",12220,"0.48=53/111","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12308A(99)v13429",129,2,0.02,"12308A","ABCB5","chr7:20698151-20698151","c.1559(E14):缺失A","缺失移码",{"$nulls":5},0,0,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,7,0,"ABCB5",1,220,"缺失移码",2140,"0.01=2/144","位于基因组单拷贝区域+简单重复结构",340273,"7p21.1","NM_001163941.1"]
["12308A(99)v31617",3,1,0.33,"12308A","ABCB8","chr7:150733236","c.1090C>T(E8)","p.364,L>F",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ABCB8",0.98,32,"错义",12420,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188.3"]
["12308A(99)v31618",8,1,0.12,"12308A","ABCB8","chr7:150730969","c.373C>T(E2)","p.125,H>Y",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ABCB8",0.98,32,"错义",12420,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188.3"]
["12308A(99)v18511",1,1,1,"12308A","ABCB9","chr12:123451018","m.39G>C(E1)","非编码区","rs61955196",0.49,0.65,0.7,0.59,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCB9",0.99,35,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23457,"12q24","NM_001243013.1"]
["12308A(99)v11506",22,13,0.59,"12308A","ABCC1","chr16:16139878","IVS9+8A>G","非编码区","rs35588",0.41,0.46,0.44,0.47,null,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCC1",0.99,91,"非编码区",16203,"0.50=19/38","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12308A(99)v11507",42,42,1,"12308A","ABCC1","chr16:16162019","c.1684T>C(E13)","p.562,L>L","rs35605",0.79,0.79,0.84,0.75,0.77,0.79,"纯合","无关","有rs号，MAF>=5%","16684361;24944790",{"$nulls":3},5,null,6,0,"ABCC1",0.99,91,"同义",13203,"1.00=83/83","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12308A(99)v11508",21,11,0.52,"12308A","ABCC1","chr16:16139714","c.1062T>C(E9)","p.354,N>N","rs35587",0.42,0.46,0.44,0.47,0.43,0.44,"杂合","无关","有rs号，MAF>=5%",16684361,{"$nulls":3},5,null,6,0,"ABCC1",0.99,91,"同义",13203,"0.50=15/30","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12308A(99)v11509",15,8,0.53,"12308A","ABCC1","chr16:16173227","c.2007C>T(E16)","p.669,P>P","rs2301666",0.0058,0.031,0.029,0.034,0.038,0.026,"杂合","未知","预测范围之外的同义突变",16684361,{"$nulls":3},4,null,6,0,"ABCC1",0.99,91,"同义",13103,"0.46=12/26","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12308A(99)v11510",63,36,0.57,"12308A","ABCC1","chr16:16138322","c.825T>C(E8)","p.275,V>V","rs246221",0.42,0.46,0.45,0.47,0.44,0.44,"杂合","无关","有rs号，MAF>=5%","16684361;23396606",{"$nulls":3},5,null,6,0,"ABCC1",0.99,91,"同义",13203,"0.56=55/98","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12308A(99)v11511",45,45,1,"12308A","ABCC1","chr16:16205449","IVS22+10G>A","非编码区","rs3851716",0.93,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCC1",0.99,91,"非编码区",16203,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12308A(99)v30327",25,13,0.52,"12308A","ABCC10","chr6:43401105","IVS3+7G>A","非编码区","rs9394952",0.36,0.6,0.59,0.61,null,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC10",0.99,47,"非编码区",16203,"0.52=23/44","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_001198934.1"]
["12308A(99)v30328",59,33,0.56,"12308A","ABCC10","chr6:43403994","IVS6+9G>T","非编码区",{"$nulls":6},3.5E-4,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"ABCC10",0.99,47,"非编码区",16403,"0.54=48/89","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_001198934.1"]
["12308A(99)v30329",46,46,1,"12308A","ABCC10","chr6:43399837","m.349A>G(E1)","非编码区","rs700008",0.88,0.95,0.95,0.95,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC10",0.99,47,"非编码区",14200,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_033450.2"]
["12308A(99)v30330",6,1,0.17,"12308A","ABCC10","chr6:43415653","c.3937C>A(E18)","p.1313,Q>K",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ABCC10",0.99,47,"错义",12420,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_001198934.1"]
["12308A(99)v8898",63,35,0.56,"12308A","ABCC11","chr16:48234327","c.1942C>T(E15)","p.648,V>I","rs16945930",0.072,0.36,0.36,0.35,0.33,0.33,"杂合","无关","有rs号，MAF>=5%",null,"顶浆分泌腺变异","AD",117800,5,1,3,1,"ABCC11",1,130,"错义",12220,"0.57=47/82","位于基因组多拷贝区域+DNA结构正常",85320,"16q12.1","NM_032583.3"]
["12308A(99)v8899",43,42,0.98,"12308A","ABCC11","chr16:48258198","c.538C>T(E5)","p.180,G>R","rs17822931",0.3,0.91,0.84,0.97,0.87,0.88,"纯合","无关","有rs号，MAF>=5%","16255080;16444273;17394018;18037328;18817904;19650936;19737746;20937735;21423094;23325016;23760047;24019265","顶浆分泌腺变异","AD",117800,5,1,3,1,"ABCC11",1,130,"错义",12210,"0.98=64/65","位于基因组单拷贝区域+DNA结构正常",85320,"16q12.1","NM_032583.3"]
["12308A(99)v8900",62,36,0.58,"12308A","ABCC11","chr16:48234330","c.1939C>T(E15)","p.647,A>T","rs200323911",1E-3,0.0096,0,0.019,0.0051,0.0087,"杂合","可能相关","蛋白结构预测结果为有害",null,"顶浆分泌腺变异","AD",117800,2,1,3,1,"ABCC11",1,130,"错义",12110,"0.59=49/83","位于基因组多拷贝区域+DNA结构正常",85320,"16q12.1","NM_032583.3"]
["12308A(99)v1174",90,90,1,"12308A","ABCC12","chr16:48122582","c.3349G>A(E24)","p.1117,R>C","rs7193955",0.59,0.89,0.88,0.91,0.86,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCC12",1,160,"错义",12210,"1.00=141/141","位于基因组单拷贝区域+DNA结构正常",94160,"16q12.1","NM_033226.2"]
["12308A(99)v1175",122,61,0.5,"12308A","ABCC12","chr16:48119547","c.3785C>T(E27)","p.1262,R>H",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ABCC12",1,160,"错义",12410,"0.51=113/223","位于基因组单拷贝区域+DNA结构正常",94160,"16q12.1","NM_033226.2"]
["12308A(99)v1176",121,1,0.01,"12308A","ABCC12","chr16:48138216-48138216","c.2737(E20):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,3,0,"ABCC12",1,160,"缺失移码",2140,"0.01=2/140","位于基因组单拷贝区域+简单重复结构",94160,"16q12.1","NM_033226.2"]
["12308A(99)v25097",117,117,1,"12308A","ABCC2","chr10:101544447","c.116A>T(E2)","p.39,Y>F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,1,1,"ABCC2",1,170,"错义",12230,"1.00=208/208","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392.3"]
["12308A(99)v5140",17,1,0.06,"12308A","ABCC3","chr17:48745028","c.1545G>T(E12)","p.515,E>D",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ABCC3",1,73,"错义",12420,"0.17=4/24","位于基因组单拷贝区域+DNA结构正常",8714,"17q22","NM_001144070.1"]
["12308A(99)v5141",25,12,0.48,"12308A","ABCC3","chr17:48762173","c.4217C>T(E29)","p.1406,T>M","rs140060241",0.0006,0,0,0,0.008,0.006,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ABCC3",1,73,"错义",12120,"0.37=16/43","位于基因组单拷贝区域+DNA结构正常",8714,"17q22","NM_003786.3"]
["12308A(99)v5142",20,9,0.45,"12308A","ABCC3","chr17:48761105","c.3942C>T(E27)","p.1314,H>H","rs2277624",0.29,0.23,0.26,0.2,0.28,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC3",1,73,"同义",13203,"0.31=10/32","位于基因组单拷贝区域+DNA结构正常",8714,"17q22","NM_003786.3"]
["12308A(99)v5143",32,16,0.5,"12308A","ABCC3","chr17:48753423","c.3039C>T(E22)","p.1013,G>G","rs4148416",0.14,0.14,0.19,0.1,0.14,0.15,"杂合","无关","有rs号，MAF>=5%","17267408;24996541",{"$nulls":3},5,null,4,0,"ABCC3",1,73,"同义",13203,"0.44=23/52","位于基因组单拷贝区域+DNA结构正常",8714,"17q22","NM_003786.3"]
["12308A(99)v20923",141,141,1,"12308A","ABCC4","chr13:95714976","c.3348C>T(E26)","p.1116,K>K","rs1751034",0.79,0.81,0.82,0.81,0.74,0.78,"纯合","无关","有rs号，MAF>=5%","18364470;24944790",{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.99=215/217","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12308A(99)v20924",134,132,0.99,"12308A","ABCC4","chr13:95726541","c.2844A>G(E23)","p.948,F>F","rs1189466",0.9,0.82,0.84,0.81,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.99=248/251","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12308A(99)v20925",37,19,0.51,"12308A","ABCC4","chr13:95858996","c.951T>C(E8)","p.317,R>R","rs2274406",0.52,0.53,0.5,0.55,0.52,0.53,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.52=26/50","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12308A(99)v20926",74,44,0.59,"12308A","ABCC4","chr13:95861804","c.669A>G(E6)","p.223,I>I","rs899494",0.81,0.78,0.8,0.77,0.76,0.78,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.58=71/123","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12308A(99)v20927",44,22,0.5,"12308A","ABCC4","chr13:95858978","c.969T>C(E8)","p.323,S>S","rs2274405",0.63,0.53,0.51,0.55,0.52,0.53,"杂合","无关","有rs号，MAF>=5%","18213362;18364470",{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.51=30/59","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12308A(99)v20928",75,75,1,"12308A","ABCC4","chr13:95727780","c.2712T>C(E22)","p.904,L>L","rs1678339",0.89,0.82,0.83,0.81,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"1.00=128/128","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12308A(99)v20929",68,30,0.44,"12308A","ABCC4","chr13:95673791","m.4135A>C(E31)","非编码区","rs3742106",0.41,0.51,0.51,0.5,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABCC4",0.99,220,"非编码区",14200,"0.43=52/120","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12308A(99)v2603",106,57,0.54,"12308A","ABCC5","chr3:183660585","c.3624G>A(E25)","p.1208,L>L","rs3749442",0.25,0.44,0.47,0.41,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC5",1,130,"同义",13203,"0.55=94/172","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12308A(99)v2604",145,145,1,"12308A","ABCC5","chr3:183685534","c.1782A>G(E12)","p.594,C>C","rs939336",0.69,0.85,0.87,0.82,0.83,0.86,"纯合","无关","有rs号，MAF>=5%","14507663;24924344",{"$nulls":3},5,null,4,0,"ABCC5",1,130,"同义",13203,"1.00=254/254","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12308A(99)v2605",88,46,0.52,"12308A","ABCC5","chr3:183699516","c.1146T>C(E8)","p.382,Q>Q","rs7636910",0.33,0.39,0.39,0.39,0.39,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC5",1,130,"剪切位点",13202,"0.51=79/156","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12308A(99)v2606",93,93,1,"12308A","ABCC5","chr3:183696402","c.1185A>G(E9)","p.395,A>A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",24924344,{"$nulls":3},5,null,4,0,"ABCC5",1,130,"同义",13203,"1.00=152/152","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12308A(99)v15957",18,18,1,"12308A","ABCC6","chr16:16272670","c.2400T>C(E18)","p.800,G>G","rs7500834",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤","AR",264800,5,1,3,3,"ABCC6",0.99,62,"同义",13203,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v15957",18,18,1,"12308A","ABCC6","chr16:16272670","c.2400T>C(E18)","p.800,G>G","rs7500834",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"早期弹性纤维假黄瘤","AD",177850,5,1,3,3,"ABCC6",0.99,62,"同义",13203,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v15957",18,18,1,"12308A","ABCC6","chr16:16272670","c.2400T>C(E18)","p.800,G>G","rs7500834",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,3,3,"ABCC6",0.99,62,"同义",13203,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v15958",63,63,1,"12308A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤","AR",264800,5,1,3,3,"ABCC6",0.99,62,"错义",12230,"1.00=103/103","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v15958",63,63,1,"12308A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"早期弹性纤维假黄瘤","AD",177850,5,1,3,3,"ABCC6",0.99,62,"错义",12230,"1.00=103/103","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v15958",63,63,1,"12308A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,3,3,"ABCC6",0.99,62,"错义",12230,"1.00=103/103","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v15959",9,5,0.56,"12308A","ABCC6","chr16:16248624","c.4069G>A(E29)","p.1357,R>W","rs63750428",0.0002,0,0,0,0.00077,0.00063,"杂合","较高","有疾病相关报道","15645653;16086317;","弹性纤维假黄瘤","AR",264800,1,3,3,3,"ABCC6",0.99,62,"错义",11100,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v15959",9,5,0.56,"12308A","ABCC6","chr16:16248624","c.4069G>A(E29)","p.1357,R>W","rs63750428",0.0002,0,0,0,0.00077,0.00063,"杂合","较高","有疾病相关报道","15645653;16086317;","早期弹性纤维假黄瘤","AD",177850,1,1,3,3,"ABCC6",0.99,62,"错义",11100,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v15959",9,5,0.56,"12308A","ABCC6","chr16:16248624","c.4069G>A(E29)","p.1357,R>W","rs63750428",0.0002,0,0,0,0.00077,0.00063,"杂合","较高","有疾病相关报道","15645653;16086317;","婴儿期广泛性动脉钙化2型","AR",614473,1,3,3,3,"ABCC6",0.99,62,"错义",11100,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12308A(99)v19610",12,6,0.5,"12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19610",12,6,0.5,"12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19610",12,6,0.5,"12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19610",12,6,0.5,"12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19610",12,6,0.5,"12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19611",28,28,1,"12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19611",28,28,1,"12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19611",28,28,1,"12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19611",28,28,1,"12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19611",28,28,1,"12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19612",31,19,0.61,"12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19612",31,19,0.61,"12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19612",31,19,0.61,"12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19612",31,19,0.61,"12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19612",31,19,0.61,"12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19613",14,6,0.43,"12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19613",14,6,0.43,"12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19613",14,6,0.43,"12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19613",14,6,0.43,"12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v19613",14,6,0.43,"12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12308A(99)v25783",36,13,0.36,"12308A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,260,"剪切位点",16201,"0.38=19/50","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12308A(99)v25783",36,13,0.36,"12308A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1O型",null,608569,5,2,2,3,"ABCC9",1,260,"剪切位点",16201,"0.38=19/50","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12308A(99)v25783",36,13,0.36,"12308A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"多毛性骨软骨发育不良","AD",239850,5,1,2,3,"ABCC9",1,260,"剪切位点",16201,"0.38=19/50","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12308A(99)v25784",109,109,1,"12308A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,260,"同义",13203,"0.99=185/187","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12308A(99)v25784",109,109,1,"12308A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1O型",null,608569,5,1,2,3,"ABCC9",1,260,"同义",13203,"0.99=185/187","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12308A(99)v25784",109,109,1,"12308A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"多毛性骨软骨发育不良","AD",239850,5,1,2,3,"ABCC9",1,260,"同义",13203,"0.99=185/187","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12308A(99)v18083",62,26,0.42,"12308A","ABCD3","chr1:94982785","m.2182A>T(E23)","非编码区","rs662813",0.28,0.35,0.39,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCD3",0.95,310,"非编码区",14200,"0.48=39/82","位于基因组单拷贝区域+DNA结构正常",5825,"1p21.3","NM_002858.3"]
["12308A(99)v292",5,4,0.8,"12308A","ABCD4","chr14:74752984","m.2153C>T(E19)","非编码区","rs4148081",0.026,0.034,0.033,0.034,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"甲基丙二酸尿症和高胱氨酸尿 cblJ型","AR",614857,3,3,2,1,"ABCD4",1,79,"非编码区",14100,"0.67=4/6","位于基因组单拷贝区域+DNA结构正常",5826,"14q24.3","NM_005050.3"]
["12308A(99)v293",2,1,0.5,"12308A","ABCD4","chr14:74752902","m.2235A>C(E19)","非编码区","rs2466",0.26,0.52,0.56,0.49,null,null,"杂合","无关","有rs号，MAF>=5%",null,"甲基丙二酸尿症和高胱氨酸尿 cblJ型","AR",614857,5,3,2,1,"ABCD4",1,79,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",5826,"14q24.3","NM_005050.3"]
["12308A(99)v21251",96,95,0.99,"12308A","ABCE1","chr4:146046138","IVS16-4T>C","剪切位点","rs4835203",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCE1",1,270,"剪切位点",16202,"0.99=154/156","位于基因组单拷贝区域+DNA结构正常",6059,"4q31","NM_001040876.1"]
["12308A(99)v16698",78,78,1,"12308A","ABCF2","chr7:150921950","c.279A>G(E3)","p.93,L>L","rs6464133",0.74,0.9,0.91,0.88,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF2",1,94,"同义",13203,"1.00=123/123","位于基因组多拷贝区域+DNA结构正常",10061,"7q36","NM_005692.3"]
["12308A(99)v16699",61,61,1,"12308A","ABCF2","chr7:150916228","c.939G>A(E8)","p.313,Y>Y","rs6949587",0.42,0.69,0.76,0.63,0.67,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF2",1,94,"同义",13203,"1.00=99/99","位于基因组单拷贝区域+DNA结构正常",10061,"7q36","NM_005692.3"]
["12308A(99)v30478",39,18,0.46,"12308A","ABCF3","chr3:183904049","c.54A>G(E1)","p.18,Q>Q","rs11539876",0.17,0.32,0.36,0.29,0.27,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF3",1,84,"同义",13203,"0.48=30/63","位于基因组单拷贝区域+DNA结构正常",55324,"3q27.1","NM_018358.2"]
["12308A(99)v30479",17,6,0.35,"12308A","ABCF3","chr3:183903935-183903936","m.73(E1)至m.74(E1):插入G","非编码区","rs397755106",0.44,0.6,0.58,0.62,0.066,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ABCF3",1,84,"非编码区",2420,"0.33=6/18","位于基因组单拷贝区域+简单重复结构",55324,"3q27.1","NM_018358.2"]
["12308A(99)v4241",13,5,0.38,"12308A","ABCG1","chr21:43716647","m.2288C>T(E15)","非编码区","rs371391053",0.0004,0.0024,0.0048,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ABCG1",0.98,81,"非编码区",14100,"0.40=6/15","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12308A(99)v4242",5,1,0.2,"12308A","ABCG1","chr21:43711737","c.1660C>T(E13)","p.554,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ABCG1",0.98,81,"同义",13403,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12308A(99)v4243",6,1,0.17,"12308A","ABCG1","chr21:43693403","IVS3-10G>T","剪切位点","rs570438394",0.0004,0,0,0,null,0,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,5,0,"ABCG1",0.98,81,"剪切位点",16102,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12308A(99)v4244",52,20,0.38,"12308A","ABCG1","chr21:43708018","c.993C>T(E9)","p.331,G>G","rs56140811",0.011,0,0,0,null,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ABCG1",0.98,81,"同义",13103,"0.35=32/91","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12308A(99)v4245",81,24,0.3,"12308A","ABCG1","chr21:43708431-43708432","IVS10+9至IVS10+10:插入C","非编码区","rs2234720",{"$nulls":4},0.04,0.32,"杂合","无关","内含子突变",{"$nulls":4},5,null,5,0,"ABCG1",0.98,81,"非编码区",2500,"0.27=26/97","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12308A(99)v22171",125,125,1,"12308A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"纯合","无关","有rs号，MAF>=5%","18547414;18834626;19474294;19503597;19506252;19842935;19890391;19930591;20053405;20130569;20162742;20162743;20389299;20421215;20470424;20714133;20837191;20858603;20959405;21918980;21983786;22015057;22112610;22229870;23100282;23263486;23280364;23438071;23712608;23778707;23827224;24499401;24513273;24532835;24598718;24637121;24777469;24827988;24883056;24944790;24991206;25128519","血型JUNIOR系统",null,614490,5,1,2,2,"ABCG2",1,240,"错义",12220,"1.00=192/192","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_001257386.1"]
["12308A(99)v22171",125,125,1,"12308A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"纯合","无关","有rs号，MAF>=5%","18547414;18834626;19474294;19503597;19506252;19842935;19890391;19930591;20053405;20130569;20162742;20162743;20389299;20421215;20470424;20714133;20837191;20858603;20959405;21918980;21983786;22015057;22112610;22229870;23100282;23263486;23280364;23438071;23712608;23778707;23827224;24499401;24513273;24532835;24598718;24637121;24777469;24827988;24883056;24944790;24991206;25128519","血浆尿酸浓度数量性状位点1","AD",138900,5,1,2,2,"ABCG2",1,240,"错义",12220,"1.00=192/192","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_001257386.1"]
["12308A(99)v22172",247,1,0,"12308A","ABCG2","chr4:89034568-89034570","c.1081(E9)至c.1079(E9):缺失TCT","缺失非移码",{"$nulls":5},0.0024,1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"血型JUNIOR系统",null,614490,3,2,2,2,"ABCG2",1,240,"缺失非移码",2242,"0.01=2/291","位于基因组单拷贝区域+简单重复结构",9429,"4q22","NM_001257386.1"]
["12308A(99)v22172",247,1,0,"12308A","ABCG2","chr4:89034568-89034570","c.1081(E9)至c.1079(E9):缺失TCT","缺失非移码",{"$nulls":5},0.0024,1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"血浆尿酸浓度数量性状位点1","AD",138900,3,1,2,2,"ABCG2",1,240,"缺失非移码",2242,"0.01=2/291","位于基因组单拷贝区域+简单重复结构",9429,"4q22","NM_001257386.1"]
["12308A(99)v13460",13,12,0.92,"12308A","ABCG4","chr11:119031841-119031842","m.2078(E15)至m.2079(E15):插入C","非编码区","rs397687210",1,1,1,1,0.15,1,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"ABCG4",1,63,"非编码区",2420,"0.93=13/14","位于基因组单拷贝区域+DNA结构正常",64137,"11q23.3","NM_001142505.1"]
["12308A(99)v1299",51,26,0.51,"12308A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"杂合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","谷甾醇血症","AR",210250,5,3,7,2,"ABCG8",1,78,"错义",12210,"0.51=41/81","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1299",51,26,0.51,"12308A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"杂合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","胆囊病4型",null,611465,5,2,7,2,"ABCG8",1,78,"错义",12210,"0.51=41/81","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1300",132,132,1,"12308A","ABCG8","chr2:44104925","c.1895T>C(E13)","p.632,V>A","rs6544718",null,1,1,1,0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害","15996216;16507104;20170916","谷甾醇血症","AR",210250,3,1,7,2,"ABCG8",1,78,"错义",12320,"1.00=226/227","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1300",132,132,1,"12308A","ABCG8","chr2:44104925","c.1895T>C(E13)","p.632,V>A","rs6544718",null,1,1,1,0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害","15996216;16507104;20170916","胆囊病4型",null,611465,3,1,7,2,"ABCG8",1,78,"错义",12320,"1.00=226/227","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1301",10,5,0.5,"12308A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"杂合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,3,7,2,"ABCG8",1,78,"非编码区",14200,"0.50=6/12","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1301",10,5,0.5,"12308A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"杂合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,2,7,2,"ABCG8",1,78,"非编码区",14200,"0.50=6/12","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1302",41,26,0.63,"12308A","ABCG8","chr2:44079913","c.870C>T(E6)","p.290,T>T","rs117221284",0.0012,0.0072,0,0.015,0.011,0.0029,"杂合","未知","预测范围之外的同义突变",null,"谷甾醇血症","AR",210250,4,3,7,2,"ABCG8",1,78,"同义",13103,"0.63=40/63","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1302",41,26,0.63,"12308A","ABCG8","chr2:44079913","c.870C>T(E6)","p.290,T>T","rs117221284",0.0012,0.0072,0,0.015,0.011,0.0029,"杂合","未知","预测范围之外的同义突变",null,"胆囊病4型",null,611465,4,2,7,2,"ABCG8",1,78,"同义",13103,"0.63=40/63","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1303",41,19,0.46,"12308A","ABCG8","chr2:44099433","c.1199C>A(E8)","p.400,T>K","rs4148217",0.22,0.1,0.1,0.1,0.12,0.11,"杂合","无关","有rs号，MAF>=5%","15996216;18778477;19005228;21062971;22548731","谷甾醇血症","AR",210250,5,3,7,2,"ABCG8",1,78,"错义",12220,"0.48=30/63","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1303",41,19,0.46,"12308A","ABCG8","chr2:44099433","c.1199C>A(E8)","p.400,T>K","rs4148217",0.22,0.1,0.1,0.1,0.12,0.11,"杂合","无关","有rs号，MAF>=5%","15996216;18778477;19005228;21062971;22548731","胆囊病4型",null,611465,5,2,7,2,"ABCG8",1,78,"错义",12220,"0.48=30/63","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1304",46,24,0.52,"12308A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"杂合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,3,7,2,"ABCG8",1,78,"剪切位点",16202,"0.52=39/75","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1304",46,24,0.52,"12308A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"杂合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,2,7,2,"ABCG8",1,78,"剪切位点",16202,"0.52=39/75","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1305",108,1,0.01,"12308A","ABCG8","chr2:44101543-44101544","IVS9-3至IVS9-2:插入T","剪切位点",{"$nulls":5},0,null,"杂合","较高","理论上这种剪切位点的插入缺失可能对mRNA及蛋白序列产生较为显著的影响",null,"谷甾醇血症","AR",210250,1,3,7,2,"ABCG8",1,78,"剪切位点",2340,"0.01=1/121","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v1305",108,1,0.01,"12308A","ABCG8","chr2:44101543-44101544","IVS9-3至IVS9-2:插入T","剪切位点",{"$nulls":5},0,null,"杂合","较高","理论上这种剪切位点的插入缺失可能对mRNA及蛋白序列产生较为显著的影响",null,"胆囊病4型",null,611465,1,2,7,2,"ABCG8",1,78,"剪切位点",2340,"0.01=1/121","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12308A(99)v12069",48,48,1,"12308A","ABHD1","chr2:27351948","c.411T>G(E3)","p.137,D>E","rs6715286",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD1",1,94,"错义",12230,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",84696,"2p23.3","NM_032604.3"]
["12308A(99)v30723",15,8,0.53,"12308A","ABHD11","chr7:73151644","c.540A>G(E4)","p.180,Y>Y","rs6460052",0.6,0.56,0.55,0.58,0.49,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD11",1,36,"同义",13203,"0.62=15/24","位于基因组单拷贝区域+DNA结构正常",83451,"7q11.23","NM_148912.2"]
["12308A(99)v16685",17,17,1,"12308A","ABHD12","chr20:25281398","m.1559C>T(E13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,120,"非编码区",14200,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12308A(99)v16686",7,7,1,"12308A","ABHD12","chr20:25281333","m.1624G>A(E13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,120,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12308A(99)v16687",24,24,1,"12308A","ABHD12","chr20:25282944","c.1068A>G(E12)","p.356,D>D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,120,"同义",13203,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12308A(99)v16688",39,31,0.79,"12308A","ABHD12","chr20:25275554-25275559","m.1549(E13)至m.1544(E13):缺失TTAGTT","非编码区","rs16436",0.61,0.95,0.93,0.97,0.74,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,4,3,4,1,"ABHD12",0.85,120,"非编码区",2420,"0.79=31/39","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_015600.4"]
["12308A(99)v22852",144,70,0.49,"12308A","ABHD12B","chr14:51370852","c.1003C>G(E12)","p.335,P>A","rs34800262",0.12,0.099,0.11,0.087,0.068,0.083,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD12B",0.79,180,"错义",12210,"0.44=108/245","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12308A(99)v28531",26,26,1,"12308A","ABHD15","chr17:27889578","m.1466T>C(E2)","非编码区","rs539307",0.74,0.95,0.94,0.95,0.9,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD15",0.51,16,"非编码区",14200,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12308A(99)v28532",11,11,1,"12308A","ABHD15","chr17:27889986","c.1000T>C(E2)","p.334,T>A","rs542939",0.77,0.89,0.88,0.9,0.8,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD15",0.51,16,"错义",12220,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12308A(99)v1585",3,1,0.33,"12308A","ABHD16B","chr20:62493776","c.883G>A(E1)","p.295,V>M",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ABHD16B",0.82,3.2,"错义",12420,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622.3"]
["12308A(99)v24460",86,86,1,"12308A","ABHD2","chr15:89744476","m.8018G>T(E15)","非编码区","rs6416547",0.91,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD2",1,130,"非编码区",14200,"1.00=136/136","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011.7"]
["12308A(99)v24461",15,15,1,"12308A","ABHD2","chr15:89744004","m.7546C>T(E15)","非编码区","rs7179900",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD2",1,130,"非编码区",14200,"0.94=30/32","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011.7"]
["12308A(99)v1754",6,6,1,"12308A","ABI3","chr17:47297297","c.608T>C(E5)","p.203,F>S","rs616338",1,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABI3",1,34,"错义",12230,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",51225,"17q21.3","NM_001135186.1"]
["12308A(99)v5364",84,42,0.5,"12308A","ABI3BP","chr3:100617680","c.408C>T(E4)","p.136,S>S","rs2245370",0.73,0.92,0.95,0.89,0.88,0.92,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABI3BP",1,260,"同义",13203,"0.52=70/134","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429.3"]
["12308A(99)v5365",62,33,0.53,"12308A","ABI3BP","chr3:100712249","c.1T>C(E1)","p.1,M>V","rs3732895",0.24,0.44,0.41,0.48,0.49,0.45,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,3,0,"ABI3BP",1,260,"错义",18220,"0.55=60/110","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429.3"]
["12308A(99)v5366",335,2,0.01,"12308A","ABI3BP","chr3:100565252-100565252","c.1561(E18):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,3,0,"ABI3BP",1,260,"缺失移码",2140,"0.01=2/381","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429.3"]
["12308A(99)v2609",14,7,0.5,"12308A","ABL1","chr9:133761001","c.3324A>G(E11)","p.1108,P>P","rs1056171",0.65,0.61,0.61,0.61,0.54,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABL1",1,66,"同义",13203,"0.50=11/22","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12308A(99)v2610",27,1,0.04,"12308A","ABL1","chr9:133738143","IVS3-7C>T","剪切位点",{"$nulls":6},0,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"ABL1",1,66,"剪切位点",16402,"0.10=4/40","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12308A(99)v2611",8,8,1,"12308A","ABL1","chr9:133710819-133710820","UTR:插入C","非编码区","rs67372388",1,1,1,1,0.8,1,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,4,0,"ABL1",1,66,"非编码区",2600,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12308A(99)v2612",1,1,1,"12308A","ABL1","chr9:133634535-133634536","UTR:插入GCTCA","非编码区","rs111645729",0.6,0.62,0.6,0.65,0.25,null,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,4,0,"ABL1",1,66,"非编码区",2600,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12308A(99)v19857",27,11,0.41,"12308A","ABLIM1","chr10:116307504","c.525A>G(E5)","p.175,N>N","rs2247528",0.78,0.66,0.63,0.69,0.63,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABLIM1",1,160,"同义",13203,"0.39=16/41","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003407.1"]
["12308A(99)v5715",63,34,0.54,"12308A","ABLIM2","chr4:8108221","c.154C>T(E2)","p.52,A>T","rs374593252",{"$nulls":4},0.0034,0.0046,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ABLIM2",0.99,75,"错义",12310,"0.52=56/108","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130086.1"]
["12308A(99)v5716",50,50,1,"12308A","ABLIM2","chr4:8062690","IVS7+4G>A","剪切位点","rs10938683",0.7,0.94,0.96,0.92,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",0.99,75,"剪切位点",16202,"1.00=90/90","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12308A(99)v5717",32,15,0.47,"12308A","ABLIM2","chr4:8031471","c.1080A>G(E11)","p.360,C>C","rs2385904",0.73,0.78,0.79,0.77,0.73,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",0.99,75,"同义",13203,"0.45=30/67","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12308A(99)v5718",46,19,0.41,"12308A","ABLIM2","chr4:8009759","m.1566G>A(E14)","非编码区","rs17180256",0.77,0.78,0.78,0.78,null,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",0.99,75,"非编码区",14200,"0.39=32/83","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130088.1"]
["12308A(99)v5719",50,50,1,"12308A","ABLIM2","chr4:8062689","IVS7+5T>C","剪切位点","rs6811028",0.92,1,1,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",0.99,75,"剪切位点",16202,"1.00=90/90","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12308A(99)v31271",16,1,0.06,"12308A","ABLIM3","chr5:148586579","c.457G>A(E6)","p.153,G>R","rs186503737",0.0002,0,0,0,null,0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ABLIM3",1,130,"错义",12110,"0.15=4/26","位于基因组单拷贝区域+DNA结构正常",22885,"5q32","NM_014945.2"]
["12308A(99)v31272",16,1,0.06,"12308A","ABLIM3","chr5:148586587","c.465G>T(E6)","p.155,K>N",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ABLIM3",1,130,"错义",12420,"0.14=4/28","位于基因组单拷贝区域+DNA结构正常",22885,"5q32","NM_014945.2"]
["12308A(99)v31273",146,2,0.01,"12308A","ABLIM3","chr5:148579910-148579910","c.367(E5):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,3,0,"ABLIM3",1,130,"缺失移码",2140,"0.01=2/161","位于基因组单拷贝区域+DNA结构正常",22885,"5q32","NM_014945.2"]
["12308A(99)v20616",23,9,0.39,"12308A","ABO","chr9:136135237","c.189A>G(E4)","p.63,H>H","rs549443",0.73,0.75,0.74,0.77,0.68,0.73,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,8,1,"ABO",0.97,42,"同义",13203,"0.38=13/34","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12308A(99)v20617",4,4,1,"12308A","ABO","chr9:136131651","c.466G>A(E7)","p.156,R>W","rs1053878",0.13,0.18,0.2,0.15,0.17,0.19,"纯合","无关","有rs号，MAF>=5%",19169360,"ABO血型系统",null,616093,5,1,8,1,"ABO",0.97,42,"错义",12230,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12308A(99)v20618",23,9,0.39,"12308A","ABO","chr9:136135238","c.188T>C(E4)","p.63,H>R","rs549446",0.71,0.75,0.74,0.77,0.68,0.73,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,8,1,"ABO",0.97,42,"错义",12230,"0.38=13/34","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12308A(99)v20619",6,1,0.17,"12308A","ABO","chr9:136131437","c.680C>T(E7)","p.227,R>H","rs8176742",0.24,0.25,0.26,0.23,0.2,0.25,"杂合","无关","有rs号，MAF>=5%",19169360,"ABO血型系统",null,616093,5,2,8,1,"ABO",0.97,42,"错义",12230,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12308A(99)v20620",42,16,0.38,"12308A","ABO","chr9:136136770","c.106A>C(E3)","p.36,F>V","rs688976",0.72,0.75,0.74,0.77,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,8,1,"ABO",0.97,42,"错义",12230,"0.38=31/81","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12308A(99)v20621",104,52,0.5,"12308A","ABO","chr9:136133506","c.220A>G(E5)","p.74,S>P","rs512770",0.73,0.75,0.74,0.77,0.73,0.73,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,8,1,"ABO",0.97,42,"错义",12230,"0.52=90/174","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12308A(99)v20622",34,18,0.53,"12308A","ABO","chr9:136132873","c.296T>C(E6)","p.99,H>R","rs8176720",0.45,0.45,0.44,0.46,0.46,0.45,"杂合","无关","有rs号，MAF>=5%","18940312;19169360;19729612;24094242","ABO血型系统",null,616093,5,2,8,1,"ABO",0.97,42,"错义",12230,"0.57=29/51","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12308A(99)v20623",42,9,0.21,"12308A","ABO","chr9:136132908-136132909","c.261(E6)至c.260(E6):插入C","插入移码","rs72238104",0.34,0.41,0.42,0.39,0.32,0.38,"杂合","未知","有rs号，MAF>=5%的移码突变",null,"ABO血型系统",null,616093,4,2,8,1,"ABO",0.97,42,"插入移码",2120,"0.24=11/45","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12308A(99)v30919",32,14,0.44,"12308A","ABP1","chr7:150556002","c.1722T>C(E3)","p.574,P>P","rs1049748",0.52,0.57,0.54,0.6,0.54,0.59,"杂合","无关","有rs号，MAF>=5%",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,46,"同义",13203,"0.38=18/48","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12308A(99)v30920",49,31,0.63,"12308A","ABP1","chr7:150557622","c.1890G>A(E4)","p.630,S>S","rs12179",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,46,"同义",13203,"0.62=51/82","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12308A(99)v30921",19,19,1,"12308A","ABP1","chr7:150556055","c.1775C>G(E3)","p.592,T>R","rs6943147",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,46,"错义",12220,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12308A(99)v30922",19,19,1,"12308A","ABP1","chr7:150556056","c.1776G>C(E3)","p.592,T>T","rs6943420",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,46,"同义",13203,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12308A(99)v30923",30,15,0.5,"12308A","ABP1","chr7:150555915","c.1635A>G(E3)","p.545,P>P","rs10893",0.46,0.49,0.49,0.5,0.49,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,46,"同义",13203,"0.50=25/50","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12308A(99)v30924",56,36,0.64,"12308A","ABP1","chr7:150557665","c.1933C>G(E4)","p.645,H>D","rs1049793",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%","19450133;19670078",{"$nulls":3},5,null,7,0,"ABP1",1,46,"错义",12220,"0.59=52/88","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12308A(99)v30925",41,16,0.39,"12308A","ABP1","chr7:150554887","c.1329G>A(E2)","p.443,A>A","rs2071514",0.3,0.45,0.43,0.48,0.47,0.47,"杂合","无关","有rs号，MAF>=5%",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,46,"同义",13203,"0.40=28/70","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12308A(99)v414",23,23,1,"12308A","ABR","chr17:970413","c.975C>T(E9)","p.325,E>E","rs2262150",0.9,0.97,0.97,0.97,0.92,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABR",0.95,59,"同义",13203,"1.00=38/38","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001092.4"]
["12308A(99)v415",1,1,1,"12308A","ABR","chr17:908795","m.3026G>A(E22)","非编码区","rs3263",0.24,0.19,0.18,0.2,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABR",0.95,59,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001092.4"]
["12308A(99)v23",38,18,0.47,"12308A","ABRA","chr8:107782065","c.354A>G(E1)","p.118,Y>Y","rs13259080",0.19,0.38,0.37,0.39,0.37,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABRA",1,71,"同义",13203,"0.44=24/54","位于基因组单拷贝区域+DNA结构正常",137735,"8q23.1","NM_139166.4"]
["12308A(99)v24",8,3,0.38,"12308A","ABRA","chr8:107782395","c.24G>A(E1)","p.8,S>S","rs11996466",0.44,0.52,0.52,0.53,0.43,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABRA",1,71,"同义",13203,"0.36=4/11","位于基因组单拷贝区域+DNA结构正常",137735,"8q23.1","NM_139166.4"]
["12308A(99)v25600",41,41,1,"12308A","ABT1","chr6:26597333","c.123A>G(E1)","p.41,K>K","rs3800302",0.71,0.76,0.82,0.71,0.75,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABT1",1,37,"同义",13203,"1.00=68/68","位于基因组多拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375.3"]
["12308A(99)v25601",33,33,1,"12308A","ABT1","chr6:26598188","c.288A>G(E2)","p.96,G>G","rs3800303",0.52,0.67,0.72,0.61,0.59,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABT1",1,37,"同义",13203,"0.98=53/54","位于基因组单拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375.3"]
["12308A(99)v21107",11,7,0.64,"12308A","ABTB2","chr11:34378381","c.750G>C(E1)","p.250,H>Q","rs1925368",0.18,0.38,0.41,0.34,0.34,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABTB2",0.84,28,"错义",12220,"0.61=11/18","位于基因组单拷贝区域+DNA结构正常",25841,"11p13","NM_145804.2"]
["12308A(99)v22744",65,33,0.51,"12308A","ACAA1","chr3:38170810","c.516C>G(E6)","p.172,E>D","rs156265",0.14,0.34,0.3,0.38,0.36,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACAA1",0.87,71,"错义",12220,"0.51=58/114","位于基因组单拷贝区域+DNA结构正常",30,"3p22.2","NM_001607.3"]
["12308A(99)v4246",165,75,0.45,"12308A","ACACA","chr17:35609866","c.1923C>T(E15)","p.641,Q>Q","rs2229416",0.22,0.5,0.46,0.54,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",19846279,"乙酰CoA羧化酶缺陷症","AR",613933,5,3,2,1,"ACACA",1,220,"同义",13203,"0.51=153/301","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198834.1"]
["12308A(99)v4247",103,102,0.99,"12308A","ACACA","chr17:35478362","c.6189T>C(E50)","p.2063,T>T","rs1470452",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"乙酰CoA羧化酶缺陷症","AR",613933,5,1,2,1,"ACACA",1,220,"同义",13203,"0.99=183/184","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198834.1"]
["12308A(99)v27033",36,18,0.5,"12308A","ACACB","chr12:109617865","c.1791T>C(E10)","p.597,D>D","rs11065772",0.68,0.74,0.7,0.78,0.77,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACACB",1,100,"同义",13203,"0.53=30/57","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12308A(99)v27034",45,25,0.56,"12308A","ACACB","chr12:109644671","IVS19+10C>T","非编码区","rs17848815",0.032,0.091,0.067,0.12,null,0.099,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"ACACB",1,100,"非编码区",16103,"0.53=37/70","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12308A(99)v27035",61,33,0.54,"12308A","ACACB","chr12:109696838","c.6421G>A(E46)","p.2141,V>I","rs2075260",0.74,0.69,0.69,0.68,0.71,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACACB",1,100,"错义",12220,"0.52=63/122","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12308A(99)v27036",20,11,0.55,"12308A","ACACB","chr12:109577735","c.525C>T(E1)","p.175,S>S","rs2878960",0.4,0.26,0.23,0.3,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACACB",1,100,"同义",13203,"0.44=12/27","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12308A(99)v22849",31,31,1,"12308A","ACAD10","chr12:112130708","IVS2+8A>G","非编码区","rs7132509",0.2,0.59,0.61,0.57,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,120,"非编码区",16203,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538.1"]
["12308A(99)v22850",4,4,1,"12308A","ACAD10","chr12:112191641","c.2976G>A(E20)","p.992,A>A","rs2074055",0.2,0.59,0.61,0.57,0.52,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,120,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538.1"]
["12308A(99)v912",144,144,1,"12308A","ACAD11","chr3:132360883","c.470C>T(E4)","p.157,R>H","rs821572",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACAD11",1,270,"错义",12230,"1.00=258/258","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169.4"]
["12308A(99)v913",119,60,0.5,"12308A","ACAD11","chr3:132337477","IVS11+1C>A","剪切位点","rs41272317",0.042,0.099,0.1,0.092,0.066,0.067,"杂合","较高","突变在经典剪切位点上",{"$nulls":4},1,null,3,0,"ACAD11",1,270,"剪切位点",16104,"0.45=92/203","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169.4"]
["12308A(99)v914",16,7,0.44,"12308A","ACAD11","chr3:132277686","m.2852T>C(E20)","非编码区","rs76584571",0.042,0.094,0.1,0.083,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ACAD11",1,270,"非编码区",14100,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169.4"]
["12308A(99)v30001",57,23,0.4,"12308A","ACAD9","chr3:128614185","c.379A>C(E4)","p.127,R>R","rs1680778",0.54,0.65,0.67,0.64,0.58,0.66,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,4,1,"ACAD9",1,110,"同义",13203,"0.36=36/99","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12308A(99)v30002",7,1,0.14,"12308A","ACAD9","chr3:128598572","c.38C>T(E1)","p.13,A>V",{"$nulls":6},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,3,3,4,1,"ACAD9",1,110,"错义",12420,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12308A(99)v30003",25,13,0.52,"12308A","ACAD9","chr3:128627021","IVS12-7A>G","剪切位点","rs1683787",0.52,0.64,0.66,0.62,0.6,0.65,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,4,1,"ACAD9",1,110,"剪切位点",16202,"0.53=20/38","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12308A(99)v30004",13,9,0.69,"12308A","ACAD9","chr3:128627933","c.1476C>T(E14)","p.492,P>P","rs876755",0.31,0.58,0.61,0.54,0.5,0.58,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,4,1,"ACAD9",1,110,"同义",13203,"0.75=15/20","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12308A(99)v13793",34,15,0.44,"12308A","ACADS","chr12:121175221","c.423G>A(E4)","p.141,T>T","rs2239686",0.021,0.079,0.067,0.092,0.089,0.1,"杂合","未知","预测范围之外的同义突变",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,4,3,3,1,"ACADS",0.95,27,"同义",13103,"0.47=31/66","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017.2"]
["12308A(99)v13794",7,4,0.57,"12308A","ACADS","chr12:121174899","c.321T>C(E3)","p.107,R>R","rs3914",0.59,0.57,0.54,0.59,0.45,0.57,"杂合","无关","有rs号，MAF>=5%",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,5,3,3,1,"ACADS",0.95,27,"同义",13203,"0.62=10/16","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017.2"]
["12308A(99)v13795",4,3,0.75,"12308A","ACADS","chr12:121176679","c.990C>T(E8)","p.330,R>R","rs3915",null,0.57,0.54,0.59,0.46,0.53,"杂合","未知","预测范围之外的同义突变",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,4,3,3,1,"ACADS",0.95,27,"同义",13303,"0.80=4/5","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017.2"]
["12308A(99)v14213",124,64,0.52,"12308A","ACADSB","chr10:124800853","c.639C>T(E5)","p.213,H>H","rs1140591",0.23,0.12,0.11,0.12,0.15,0.15,"杂合","无关","有rs号，MAF>=5%",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,3,2,1,"ACADSB",0.97,220,"同义",13203,"0.51=106/207","位于基因组单拷贝区域+DNA结构正常",36,"10q26.13","NM_001609.3"]
["12308A(99)v14214",5,1,0.2,"12308A","ACADSB","chr10:124813479","m.1614C>A(E11)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,3,3,2,1,"ACADSB",0.97,220,"非编码区",14400,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",36,"10q26.13","NM_001609.3"]
["12308A(99)v17217",31,31,1,"12308A","ACADVL","chr17:7127718","IVS16+6T>C","剪切位点","rs17671352",0.52,0.47,0.46,0.48,0.52,0.48,"纯合","无关","有rs号，MAF>=5%",null,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,5,1,2,1,"ACADVL",0.95,54,"剪切位点",16201,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",37,"17p13.1","NM_000018.3"]
["12308A(99)v17218",56,1,0.02,"12308A","ACADVL","chr17:7125586-7125586","c.843(E9):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,1,3,2,1,"ACADVL",0.95,54,"缺失移码",2140,"0.05=3/59","位于基因组单拷贝区域+DNA结构正常",37,"17p13.1","NM_000018.3"]
["12308A(99)v9738",83,42,0.51,"12308A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"杂合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,12,3,"ACAN",1,74,"同义",13303,"0.49=63/128","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9738",83,42,0.51,"12308A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"杂合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,12,3,"ACAN",1,74,"同义",13303,"0.49=63/128","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9738",83,42,0.51,"12308A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"杂合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,2,12,3,"ACAN",1,74,"同义",13303,"0.49=63/128","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9739",43,21,0.49,"12308A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"错义",12220,"0.54=38/71","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9739",43,21,0.49,"12308A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"错义",12220,"0.54=38/71","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9739",43,21,0.49,"12308A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,74,"错义",12220,"0.54=38/71","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9740",43,23,0.53,"12308A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"错义",12220,"0.53=35/66","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9740",43,23,0.53,"12308A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"错义",12220,"0.53=35/66","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9740",43,23,0.53,"12308A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,74,"错义",12220,"0.53=35/66","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9741",39,23,0.59,"12308A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"错义",12210,"0.58=28/48","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9741",39,23,0.59,"12308A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"错义",12210,"0.58=28/48","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9741",39,23,0.59,"12308A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,74,"错义",12210,"0.58=28/48","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9742",49,25,0.51,"12308A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"同义",13203,"0.54=44/81","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9742",49,25,0.51,"12308A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"同义",13203,"0.54=44/81","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9742",49,25,0.51,"12308A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,74,"同义",13203,"0.54=44/81","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9743",16,5,0.31,"12308A","ACAN","chr15:89417238","c.7499A>G(E17)","p.2500,Q>R","rs1126823",0.41,0.26,0.27,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"错义",12220,"0.26=5/19","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227.3"]
["12308A(99)v9743",16,5,0.31,"12308A","ACAN","chr15:89417238","c.7499A>G(E17)","p.2500,Q>R","rs1126823",0.41,0.26,0.27,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"错义",12220,"0.26=5/19","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227.3"]
["12308A(99)v9743",16,5,0.31,"12308A","ACAN","chr15:89417238","c.7499A>G(E17)","p.2500,Q>R","rs1126823",0.41,0.26,0.27,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,74,"错义",12220,"0.26=5/19","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227.3"]
["12308A(99)v9744",22,8,0.36,"12308A","ACAN","chr15:89417629","IVS15-7G>A","剪切位点","rs2280465",0.18,0.11,0.1,0.12,0.091,0.19,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"剪切位点",16202,"0.38=11/29","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9744",22,8,0.36,"12308A","ACAN","chr15:89417629","IVS15-7G>A","剪切位点","rs2280465",0.18,0.11,0.1,0.12,0.091,0.19,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"剪切位点",16202,"0.38=11/29","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9744",22,8,0.36,"12308A","ACAN","chr15:89417629","IVS15-7G>A","剪切位点","rs2280465",0.18,0.11,0.1,0.12,0.091,0.19,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,74,"剪切位点",16202,"0.38=11/29","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9745",25,17,0.68,"12308A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"杂合","无关","有rs号，MAF>=5%",19180518,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"同义",13203,"0.73=24/33","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9745",25,17,0.68,"12308A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"杂合","无关","有rs号，MAF>=5%",19180518,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"同义",13203,"0.73=24/33","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9745",25,17,0.68,"12308A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"杂合","无关","有rs号，MAF>=5%",19180518,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,74,"同义",13203,"0.73=24/33","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9746",8,8,1,"12308A","ACAN","chr15:89392745","c.1809T>C(E10)","p.603,A>A","rs1568116",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"同义",13203,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9746",8,8,1,"12308A","ACAN","chr15:89392745","c.1809T>C(E10)","p.603,A>A","rs1568116",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"同义",13203,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9746",8,8,1,"12308A","ACAN","chr15:89392745","c.1809T>C(E10)","p.603,A>A","rs1568116",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,12,3,"ACAN",1,74,"同义",13203,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9747",6,1,0.17,"12308A","ACAN","chr15:89386781","c.953G>T(E6)","p.318,C>F",{"$nulls":5},0.0013,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,2,1,12,3,"ACAN",1,74,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9747",6,1,0.17,"12308A","ACAN","chr15:89386781","c.953G>T(E6)","p.318,C>F",{"$nulls":5},0.0013,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"Kimberley型脊椎骨骺发育不良","AD",608361,2,1,12,3,"ACAN",1,74,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9747",6,1,0.17,"12308A","ACAN","chr15:89386781","c.953G>T(E6)","p.318,C>F",{"$nulls":5},0.0013,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,2,2,12,3,"ACAN",1,74,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9748",40,20,0.5,"12308A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,74,"同义",13203,"0.48=29/61","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9748",40,20,0.5,"12308A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,74,"同义",13203,"0.48=29/61","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9748",40,20,0.5,"12308A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,74,"同义",13203,"0.48=29/61","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9749",83,44,0.53,"12308A","ACAN","chr15:89400571","c.4755C>T(E12)","p.1585,D>D","rs78523879",0.01,0.012,0,0.024,0.021,0.024,"杂合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,12,3,"ACAN",1,74,"同义",13103,"0.55=75/136","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9749",83,44,0.53,"12308A","ACAN","chr15:89400571","c.4755C>T(E12)","p.1585,D>D","rs78523879",0.01,0.012,0,0.024,0.021,0.024,"杂合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,12,3,"ACAN",1,74,"同义",13103,"0.55=75/136","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v9749",83,44,0.53,"12308A","ACAN","chr15:89400571","c.4755C>T(E12)","p.1585,D>D","rs78523879",0.01,0.012,0,0.024,0.021,0.024,"杂合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,2,12,3,"ACAN",1,74,"同义",13103,"0.55=75/136","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12308A(99)v22038",5,1,0.2,"12308A","ACAP1","chr17:7254710","c.2219T>C(E22)","p.740,L>P",{"$nulls":6},0.0004,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACAP1",1,59,"错义",12420,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",9744,"17p13.1","NM_014716.3"]
["12308A(99)v22039",49,24,0.49,"12308A","ACAP1","chr17:7254315","c.2119G>A(E21)","p.707,A>T","rs35985803",0.043,0.031,0.043,0.019,0.021,0.034,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACAP1",1,59,"错义",12120,"0.47=44/94","位于基因组单拷贝区域+DNA结构正常",9744,"17p13.1","NM_014716.3"]
["12308A(99)v3077",44,44,1,"12308A","ACAP2","chr3:194999996","m.2639T>A(E23)","非编码区","rs7610022",0.82,0.96,0.96,0.96,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACAP2",1,280,"非编码区",14200,"1.00=57/57","位于基因组单拷贝区域+DNA结构正常",23527,"3q29","NM_012287.5"]
["12308A(99)v17187",19,19,1,"12308A","ACAP3","chr1:1233941","IVS11+6T>C","剪切位点","rs1739855",0.5,0.75,0.8,0.7,null,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAP3",0.8,14,"剪切位点",16202,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649.2"]
["12308A(99)v17188",12,6,0.5,"12308A","ACAP3","chr1:1231656","c.1342G>A(E16)","p.448,L>L","rs1749951",0.05,0.062,0.057,0.068,0.089,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAP3",0.8,14,"同义",13203,"0.65=15/23","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649.2"]
["12308A(99)v30331",128,55,0.43,"12308A","ACAT2","chr6:160198359","c.783C>T(E7)","p.261,V>V","rs3464",0.26,0.43,0.42,0.43,0.42,0.39,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,160,"同义",13203,"0.42=90/214","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12308A(99)v30332",10,1,0.1,"12308A","ACAT2","chr6:160183104","m.116C>T(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,3,2,4,1,"ACAT2",1,160,"非编码区",14400,"0.20=4/20","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12308A(99)v30333",87,39,0.45,"12308A","ACAT2","chr6:160200026","m.1490A>C(E9)","非编码区","rs4832",0.26,0.43,0.42,0.43,null,0.4,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,160,"非编码区",14200,"0.46=63/136","位于基因组多拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12308A(99)v30334",103,43,0.42,"12308A","ACAT2","chr6:160199687","IVS8-4T>C","剪切位点","rs15982",0.68,0.57,0.57,0.56,null,0.58,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,160,"剪切位点",16202,"0.43=69/161","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12308A(99)v4450",1,1,1,"12308A","ACBD5","chr10:27484746","m.3257T>C(E13)","非编码区","rs788231",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,210,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001042473.2"]
["12308A(99)v4451",148,86,0.58,"12308A","ACBD5","chr10:27508758","c.414T>C(E6)","p.138,P>P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,210,"同义",13203,"0.57=147/260","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001042473.2"]
["12308A(99)v4452",1,1,1,"12308A","ACBD5","chr10:27484837","m.3166A>C(E13)","非编码区","rs11015603",0.056,0.0048,0.0095,0,null,0,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,210,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",91452,"10p12.1","NM_001042473.2"]
["12308A(99)v4453",15,15,1,"12308A","ACBD5","chr10:27529565","m.244T>C(E1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,210,"非编码区",14200,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512.1"]
["12308A(99)v4454",13,12,0.92,"12308A","ACBD5","chr10:27529549","m.260C>A(E1)","非编码区","rs2797078",0.68,0.51,0.48,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,210,"非编码区",14200,"0.88=21/24","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512.1"]
["12308A(99)v4899",35,18,0.51,"12308A","ACCS","chr11:44104981","c.1262C>T(E14)","p.421,P>L","rs3107275",0.4,0.53,0.54,0.51,0.49,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACCS",1,78,"错义",12210,"0.56=31/55","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_001127219.1"]
["12308A(99)v4900",100,100,1,"12308A","ACCS","chr11:44096238","IVS5+7G>A","非编码区","rs178521",0.77,0.94,0.95,0.94,0.94,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACCS",1,78,"非编码区",16203,"1.00=184/184","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_001127219.1"]
["12308A(99)v4901",66,31,0.47,"12308A","ACCS","chr11:44101118","c.871C>T(E10)","p.291,L>L","rs7950395",0.11,0.089,0.12,0.058,0.076,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACCS",1,78,"同义",13203,"0.45=44/98","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_001127219.1"]
["12308A(99)v27508",65,65,1,"12308A","ACCSL","chr11:44080210","c.1585T>C(E13)","p.529,C>R","rs2074051",0.79,0.87,0.87,0.88,0.86,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACCSL",1,120,"错义",12220,"1.00=113/113","位于基因组单拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854.2"]
["12308A(99)v27509",31,17,0.55,"12308A","ACCSL","chr11:44069719","c.133G>A(E1)","p.45,V>M","rs11037840",0.014,0.031,0.033,0.029,0.035,0.031,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ACCSL",1,120,"错义",12120,"0.53=23/43","位于基因组多拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854.2"]
["12308A(99)v27510",60,28,0.47,"12308A","ACCSL","chr11:44074303","c.864G>A(E6)","p.288,E>E","rs77666758",0.016,0.029,0.019,0.039,0.033,0.035,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ACCSL",1,120,"同义",13103,"0.39=39/99","位于基因组单拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854.2"]
["12308A(99)v27511",41,14,0.34,"12308A","ACCSL","chr11:44073200","IVS4-3C>T","剪切位点","rs11037843",0.013,0.026,0.019,0.034,0.033,0.034,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,5,0,"ACCSL",1,120,"剪切位点",16102,"0.37=28/75","位于基因组单拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854.2"]
["12308A(99)v27512",260,3,0.01,"12308A","ACCSL","chr11:44074959-44074959","c.952(E8):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,5,0,"ACCSL",1,120,"缺失移码",2140,"0.01=3/290","位于基因组单拷贝区域+简单重复结构",390110,"11p11.2","NM_001031854.2"]
["12308A(99)v22065",16,16,1,"12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","肾小管发育不良","AR",267430,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22065",16,16,1,"12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","脑出血、中风（易感）",null,614519,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22065",16,16,1,"12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","心肌梗塞,易感1型",null,608446,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22065",16,16,1,"12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22065",16,16,1,"12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","糖尿病微血管并发症,易感3型",null,612624,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22066",12,1,0.08,"12308A","ACE","chr17:61564405","c.2276C>T(E15)","p.759,P>L","rs143843660",{"$nulls":5},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"肾小管发育不良","AR",267430,3,3,7,5,"ACE",0.92,52,"错义",12320,"0.10=2/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22066",12,1,0.08,"12308A","ACE","chr17:61564405","c.2276C>T(E15)","p.759,P>L","rs143843660",{"$nulls":5},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"脑出血、中风（易感）",null,614519,3,2,7,5,"ACE",0.92,52,"错义",12320,"0.10=2/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22066",12,1,0.08,"12308A","ACE","chr17:61564405","c.2276C>T(E15)","p.759,P>L","rs143843660",{"$nulls":5},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"心肌梗塞,易感1型",null,608446,3,2,7,5,"ACE",0.92,52,"错义",12320,"0.10=2/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22066",12,1,0.08,"12308A","ACE","chr17:61564405","c.2276C>T(E15)","p.759,P>L","rs143843660",{"$nulls":5},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,7,5,"ACE",0.92,52,"错义",12320,"0.10=2/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22066",12,1,0.08,"12308A","ACE","chr17:61564405","c.2276C>T(E15)","p.759,P>L","rs143843660",{"$nulls":5},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"糖尿病微血管并发症,易感3型",null,612624,3,2,7,5,"ACE",0.92,52,"错义",12320,"0.10=2/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22067",53,24,0.45,"12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"肾小管发育不良","AR",267430,4,3,7,5,"ACE",0.92,52,"同义",13103,"0.46=38/83","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22067",53,24,0.45,"12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"脑出血、中风（易感）",null,614519,4,2,7,5,"ACE",0.92,52,"同义",13103,"0.46=38/83","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22067",53,24,0.45,"12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"心肌梗塞,易感1型",null,608446,4,2,7,5,"ACE",0.92,52,"同义",13103,"0.46=38/83","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22067",53,24,0.45,"12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,4,1,7,5,"ACE",0.92,52,"同义",13103,"0.46=38/83","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22067",53,24,0.45,"12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"糖尿病微血管并发症,易感3型",null,612624,4,2,7,5,"ACE",0.92,52,"同义",13103,"0.46=38/83","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22068",20,20,1,"12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","肾小管发育不良","AR",267430,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22068",20,20,1,"12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","脑出血、中风（易感）",null,614519,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22068",20,20,1,"12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","心肌梗塞,易感1型",null,608446,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22068",20,20,1,"12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22068",20,20,1,"12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","糖尿病微血管并发症,易感3型",null,612624,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22069",67,66,0.99,"12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","肾小管发育不良","AR",267430,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.99=103/104","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22069",67,66,0.99,"12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","脑出血、中风（易感）",null,614519,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.99=103/104","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22069",67,66,0.99,"12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","心肌梗塞,易感1型",null,608446,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.99=103/104","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22069",67,66,0.99,"12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.99=103/104","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22069",67,66,0.99,"12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","糖尿病微血管并发症,易感3型",null,612624,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.99=103/104","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22070",13,13,1,"12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","肾小管发育不良","AR",267430,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12308A(99)v22070",13,13,1,"12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","脑出血、中风（易感）",null,614519,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12308A(99)v22070",13,13,1,"12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","心肌梗塞,易感1型",null,608446,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12308A(99)v22070",13,13,1,"12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12308A(99)v22070",13,13,1,"12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","糖尿病微血管并发症,易感3型",null,612624,5,1,7,5,"ACE",0.92,52,"同义",13203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12308A(99)v22071",36,35,0.97,"12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","肾小管发育不良","AR",267430,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.98=63/64","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22071",36,35,0.97,"12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","脑出血、中风（易感）",null,614519,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.98=63/64","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22071",36,35,0.97,"12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","心肌梗塞,易感1型",null,608446,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.98=63/64","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22071",36,35,0.97,"12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.98=63/64","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v22071",36,35,0.97,"12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","糖尿病微血管并发症,易感3型",null,612624,5,1,7,5,"ACE",0.92,52,"同义",13203,"0.98=63/64","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12308A(99)v25361",116,115,0.99,"12308A","ACE2","chrX:15610348","IVS4+4C>T","剪切位点","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ACE2",1,170,"剪切位点",16302,"1.00=203/204","位于基因组单拷贝区域+DNA结构正常",59272,"Xp22","NM_021804.2"]
["12308A(99)v27600",13,5,0.38,"12308A","ACER1","chr19:6333462","IVS1+8G>A","非编码区","rs76964030",0.053,0.017,0.014,0.019,null,0.042,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACER1",1,53,"非编码区",16203,"0.32=7/22","位于基因组单拷贝区域+DNA结构正常",125981,"19p13.3","NM_133492.2"]
["12308A(99)v27601",10,10,1,"12308A","ACER1","chr19:6312290","c.220T>C(E3)","p.74,M>V","rs72981971",0.16,0.37,0.36,0.39,0.33,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACER1",1,53,"错义",12220,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",125981,"19p13.3","NM_133492.2"]
["12308A(99)v1857",216,216,1,"12308A","ACER3","chr11:76637651","c.154G>A(E2)","p.52,V>I","rs4379869",0.63,0.6,0.57,0.63,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACER3",1,270,"错义",12220,"1.00=416/417","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367.5"]
["12308A(99)v1858",143,143,1,"12308A","ACER3","chr11:76701606","c.426G>A(E6)","p.142,P>P","rs3740767",0.53,0.66,0.64,0.67,0.67,0.67,"纯合","无关","有rs号，MAF>=5%",19586928,{"$nulls":3},5,null,3,0,"ACER3",1,270,"同义",13203,"1.00=233/233","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367.5"]
["12308A(99)v1859",200,199,0.99,"12308A","ACER3","chr11:76637680","c.183G>A(E2)","p.61,K>K","rs4479014",0.5,0.6,0.57,0.63,0.63,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACER3",1,270,"同义",13203,"0.99=395/397","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367.5"]
["12308A(99)v5781",14,1,0.07,"12308A","ACHE","chr7:100489991","c.1517C>A(E3)","p.506,R>L",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"YT血型抗原",null,112100,2,2,1,1,"ACHE",0.93,20,"错义",12410,"0.16=4/25","位于基因组单拷贝区域+DNA结构正常",43,"7q22","NM_000665.3"]
["12308A(99)v30760",135,135,1,"12308A","ACIN1","chr14:23549785","c.933T>C(E6)","p.311,I>M","rs3811182",0.5,0.46,0.49,0.44,0.45,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"错义",12220,"1.00=233/233","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12308A(99)v30761",32,32,1,"12308A","ACIN1","chr14:23549379","c.1339C>G(E6)","p.447,A>P","rs941719",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"错义",12230,"1.00=48/48","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12308A(99)v30762",40,18,0.45,"12308A","ACIN1","chr14:23549319","c.1399A>G(E6)","p.467,S>P","rs1885097",0.43,0.39,0.4,0.38,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"错义",12220,"0.42=28/66","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12308A(99)v30763",32,18,0.56,"12308A","ACIN1","chr14:23530622","c.3444T>C(E17)","p.1148,S>S","rs60168438",0.25,0.26,0.27,0.26,0.3,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"同义",13203,"0.50=23/46","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12308A(99)v30764",33,18,0.55,"12308A","ACIN1","chr14:23549383","c.1335G>T(E6)","p.445,A>A","rs45510791",0.052,0.13,0.13,0.12,0.1,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"同义",13203,"0.51=25/49","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12308A(99)v30765",41,15,0.37,"12308A","ACIN1","chr14:23549285","c.1433G>A(E6)","p.478,S>F","rs3751501",0.052,0.13,0.13,0.12,0.099,0.12,"杂合","无关","有rs号，MAF>=5%",19139070,{"$nulls":3},5,null,8,0,"ACIN1",1,98,"错义",12220,"0.40=27/67","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12308A(99)v30766",41,26,0.63,"12308A","ACIN1","chr14:23548783-23548784","c.1935(E6)至c.1934(E6):插入GAACGT","插入非移码","rs148403158",0.39,0.43,0.45,0.41,0.048,0.43,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ACIN1",1,98,"插入非移码",2222,"0.62=28/45","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12308A(99)v30767",109,45,0.41,"12308A","ACIN1","chr14:23549879-23549881","c.839(E6)至c.837(E6):缺失TCC","缺失非移码","rs3841035",0.11,0.2,0.21,0.18,0.0089,null,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ACIN1",1,98,"缺失非移码",2222,"0.39=48/122","位于基因组单拷贝区域+简单重复结构",22985,"14q11.2","NM_001164814.1"]
["12308A(99)v17496",63,62,0.98,"12308A","ACLY","chr17:40024023","m.3509A>T(E29)","非编码区","rs7217218",0.92,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACLY",1,100,"非编码区",14200,"0.99=100/101","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096.2"]
["12308A(99)v17497",55,55,1,"12308A","ACLY","chr17:40048613","c.1689A>G(E16)","p.563,H>H","rs8065502",0.9,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACLY",1,100,"同义",13203,"1.00=84/84","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096.2"]
["12308A(99)v31042",8,5,0.62,"12308A","ACN9","chr7:96810729","m.1711G>A(E2)","非编码区","rs13475",0.56,0.52,0.51,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACN9",1,180,"非编码区",14200,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",57001,"7q21.3","NM_020186.2"]
["12308A(99)v13365",22,22,1,"12308A","ACO1","chr9:32450187","m.2903T>C(E21)","非编码区","rs12985",0.4,0.54,0.53,0.54,null,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACO1",1,200,"非编码区",14200,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197.2"]
["12308A(99)v13366",96,95,0.99,"12308A","ACO1","chr9:32425910","c.1263A>G(E11)","p.421,E>E","rs3780473",0.35,0.58,0.57,0.59,0.51,0.54,"纯合","无关","有rs号，MAF>=5%","18755042;20403199",{"$nulls":3},5,null,2,0,"ACO1",1,200,"同义",13203,"0.98=163/166","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197.2"]
["12308A(99)v906",12,6,0.5,"12308A","ACO2","chr22:41903813","c.192A>C(E3)","p.64,T>T","rs137831",0.42,0.6,0.62,0.57,0.46,0.55,"杂合","无关","有rs号，MAF>=5%",null,"婴儿大脑-视网膜退化症","AR",614559,5,3,1,1,"ACO2",1,67,"同义",13203,"0.40=8/20","位于基因组多拷贝区域+DNA结构正常",50,"22q13.2","NM_001098.2"]
["12308A(99)v2321",13,10,0.77,"12308A","ACOT11","chr1:55075993","m.3169G>A(E16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,46,"非编码区",14200,"0.77=10/13","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161.3"]
["12308A(99)v2322",7,3,0.43,"12308A","ACOT11","chr1:55060224","IVS5-5G>A","剪切位点","rs1755591",0.2,0.16,0.16,0.16,null,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,46,"剪切位点",16202,"0.55=6/11","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12308A(99)v2323",23,12,0.52,"12308A","ACOT11","chr1:55064980","c.776G>A(E8)","p.259,R>H","rs2304303",0.081,0.18,0.14,0.22,0.18,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,46,"错义",12220,"0.48=22/46","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12308A(99)v2324",9,2,0.22,"12308A","ACOT11","chr1:55075062","m.2238C>T(E16)","非编码区","rs2289015",0.08,0.18,0.14,0.22,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,46,"非编码区",14200,"0.25=4/16","位于基因组多拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161.3"]
["12308A(99)v2325",8,4,0.5,"12308A","ACOT11","chr1:55060251","c.494C>T(E6)","p.165,P>L","rs2304306",0.081,0.19,0.16,0.22,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,46,"错义",12210,"0.42=5/12","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12308A(99)v2326",1,1,1,"12308A","ACOT11","chr1:55060362","c.605G>A(E6)","p.202,G>D","rs1702003",0.26,0.16,0.16,0.16,0.13,0.2,"纯合","无关","有rs号，MAF>=5%","15986317;16255080;19737746",{"$nulls":3},5,null,6,0,"ACOT11",0.98,46,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12308A(99)v10270",8,7,0.88,"12308A","ACOT13","chr6:24667323","m.61C>T(E1)","非编码区","rs17243157",0.11,0.062,0.048,0.078,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,200,"非编码区",14200,"0.88=7/8","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094.1"]
["12308A(99)v10271",81,80,0.99,"12308A","ACOT13","chr6:24687765","m.443A>G(E2)","非编码区","rs926529",0.8,0.87,0.88,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,200,"非编码区",14200,"0.98=108/110","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094.1"]
["12308A(99)v980",32,14,0.44,"12308A","ACOT2","chr14:74035960","c.16C>T(E1)","p.6,L>F","rs200541919",0.0004,0.0048,0.0048,0.0049,0.008,0.0037,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACOT2",0.85,91,"错义",12120,"0.41=21/51","位于基因组单拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821.5"]
["12308A(99)v981",129,37,0.29,"12308A","ACOT2","chr14:74042189","c.1424A>G(E3)","p.475,H>R","rs7494",{"$nulls":4},0.76,0.8,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACOT2",0.85,91,"错义",12320,"0.28=57/206","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821.5"]
["12308A(99)v982",7,5,0.71,"12308A","ACOT2","chr14:74036216","c.272A>G(E1)","p.91,E>G","rs56069624",0.036,0.034,0.043,0.024,0.031,0.037,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACOT2",0.85,91,"错义",12120,"0.62=5/8","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821.5"]
["12308A(99)v983",27,26,0.96,"12308A","ACOT2","chr14:74041748","c.983A>G(E3)","p.328,H>R","rs149033118",{"$nulls":4},0.86,0.93,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ACOT2",0.85,91,"错义",12310,"0.93=26/28","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821.5"]
["12308A(99)v23474",69,69,1,"12308A","ACOT4","chr14:74061968","c.876T>C(E3)","p.292,I>I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT4",0.9,86,"同义",13203,"1.00=107/107","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331.3"]
["12308A(99)v23475",106,48,0.45,"12308A","ACOT4","chr14:74060487","c.539G>C(E2)","p.180,G>A","rs45522539",0.035,0.031,0.038,0.024,0.032,0.033,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ACOT4",0.9,86,"错义",12110,"0.45=82/183","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331.3"]
["12308A(99)v10085",58,33,0.57,"12308A","ACOT6","chr14:74083846","m.299C>T(E1)","非编码区","rs12891009",0.46,0.65,0.64,0.66,0.64,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACOT6",1,150,"非编码区",14200,"0.55=48/87","位于基因组单拷贝区域+DNA结构正常",641372,"14q24.3","NM_001037162.1"]
["12308A(99)v12620",36,36,1,"12308A","ACOX1","chr17:73949540","c.822G>C(E7)","p.274,I>M","rs1135640",0.55,0.79,0.82,0.77,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,5,1,1,1,"ACOX1",1,150,"错义",12220,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",51,"17q25.1","NM_001185039.1"]
["12308A(99)v7686",32,32,1,"12308A","ACOX2","chr3:58520859","m.150A>G(E2)","非编码区","rs4681862",0.87,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,89,"非编码区",14200,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12308A(99)v7687",20,13,0.65,"12308A","ACOX2","chr3:58512237","c.1302A>G(E10)","p.434,C>C","rs1127745",0.28,0.23,0.25,0.21,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,89,"同义",13203,"0.72=18/25","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12308A(99)v7688",20,12,0.6,"12308A","ACOX2","chr3:58512375","c.1164T>C(E10)","p.388,A>A","rs1127743",0.16,0.24,0.26,0.22,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,89,"同义",13203,"0.61=20/33","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12308A(99)v17937",40,1,0.03,"12308A","ACOX3","chr4:8396398","c.1128G>T(E10)","p.376,D>E",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ACOX3",0.96,98,"错义",12410,"0.11=8/74","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_001101667.1"]
["12308A(99)v17938",35,13,0.37,"12308A","ACOX3","chr4:8368604","m.2211C>T(E17)","非编码区","rs708244",0.27,0.31,0.31,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX3",0.96,98,"非编码区",14200,"0.41=19/46","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_001101667.1"]
["12308A(99)v17939",27,17,0.63,"12308A","ACOX3","chr4:8375342","c.1842G>A(E16)","p.614,S>S","rs2280571",0.14,0.14,0.13,0.16,0.12,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX3",0.96,98,"同义",13203,"0.64=27/42","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_003501.2"]
["12308A(99)v19145",123,60,0.49,"12308A","ACOXL","chr2:111598958","c.764C>T(E10)","p.255,T>M","rs1554005",0.18,0.15,0.17,0.13,0.14,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,140,"错义",12210,"0.48=102/212","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807.1"]
["12308A(99)v19146",136,67,0.49,"12308A","ACOXL","chr2:111850515","c.1514C>T(E17)","p.505,P>L","rs17041850",0.074,0.26,0.3,0.22,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,140,"错义",12210,"0.51=111/217","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807.1"]
["12308A(99)v19147",8,5,0.62,"12308A","ACOXL","chr2:111691147","c.987G>A(E12)","p.329,A>A","rs3761711",0.066,0.19,0.18,0.2,0.15,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,140,"同义",13203,"0.61=11/18","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807.1"]
["12308A(99)v3087",6,6,1,"12308A","ACP1","chr2:264895","m.27G>C(E1)","非编码区","rs4854300",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACP1",1,200,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_001040649.2"]
["12308A(99)v3088",253,129,0.51,"12308A","ACP1","chr2:277003","c.317A>G(E5)","p.106,Q>R","rs79716074",0.26,0.24,0.24,0.24,0.25,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACP1",1,200,"错义",12210,"0.51=234/462","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_004300.3"]
["12308A(99)v3089",65,32,0.49,"12308A","ACP1","chr2:272203","c.284C>T(E3)","p.95,T>I","rs11553746",0.24,0.24,0.24,0.24,0.25,0.23,"杂合","无关","有rs号，MAF>=5%",20011102,{"$nulls":3},5,null,3,0,"ACP1",1,200,"错义",12220,"0.44=41/93","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_001040649.2"]
["12308A(99)v12776",21,11,0.52,"12308A","ACP2","chr11:47270255","c.86C>T(E1)","p.29,R>Q","rs2167079",0.52,0.75,0.79,0.71,0.66,0.76,"杂合","无关","有rs号，MAF>=5%","17357082;19060910","酸性磷酸酶缺乏症","AR",200950,5,3,1,1,"ACP2",1,63,"错义",12220,"0.50=15/30","位于基因组单拷贝区域+DNA结构正常",53,"11p11.2|11p12-p11","NM_001131064.1"]
["12308A(99)v11414",61,61,1,"12308A","ACP6","chr1:147121977","c.946C>T(E8)","p.316,V>M","rs6593795",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACP6",0.95,130,"错义",12220,"1.00=95/95","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12308A(99)v11415",36,36,1,"12308A","ACP6","chr1:147124310","c.823T>G(E7)","p.275,R>R","rs2153463",{"$nulls":4},0.7,0.71,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACP6",0.95,130,"同义",13303,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12308A(99)v21615",8,8,1,"12308A","ACPP","chr3:132086825","m.1506G>A(E11)","非编码区","rs2198765",0.52,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPP",1,200,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",55,"3q22.1","NM_001134194.1"]
["12308A(99)v21616",1,1,1,"12308A","ACPP","chr3:132076150","m.1679A>G(E10)","非编码区","rs309995",0.95,0.94,0.94,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPP",1,200,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",55,"3q22.1","NM_001099.4"]
["12308A(99)v12777",8,1,0.12,"12308A","ACPT","chr19:51294099","c.285G>A(E3)","p.95,P>P","rs185153035",0.0002,0,0,0,null,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ACPT",0.98,18,"同义",13103,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068.2"]
["12308A(99)v12778",27,27,1,"12308A","ACPT","chr19:51297825","c.973G>A(E9)","p.325,A>T","rs55716643",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACPT",0.98,18,"错义",12220,"1.00=42/42","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068.2"]
["12308A(99)v12779",26,26,1,"12308A","ACPT","chr19:51297826","c.974C>A(E9)","p.325,A>D","rs55735528",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACPT",0.98,18,"错义",12220,"1.00=42/42","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068.2"]
["12308A(99)v2200",70,64,0.91,"12308A","ACR","chr22:51183255","c.886A>G(E5)","p.296,M>V","rs5771002",0.73,0.82,0.8,0.84,0.71,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,67,"错义",12220,"0.92=92/100","位于基因组多拷贝区域+DNA结构正常",49,"22q13.33","NM_001097.2"]
["12308A(99)v2201",37,18,0.49,"12308A","ACR","chr22:51182485","IVS3-4A>G","剪切位点","rs6009961",0.64,0.4,0.39,0.42,null,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,67,"剪切位点",16202,"0.50=39/78","位于基因组多拷贝区域+DNA结构正常",49,"22q13.33","NM_001097.2"]
["12308A(99)v13183",33,33,1,"12308A","ACRBP","chr12:6747578","IVS9-8G>C","剪切位点","rs1882553",0.68,0.62,0.62,0.62,null,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACRBP",1,86,"剪切位点",16202,"1.00=52/52","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489.2"]
["12308A(99)v13184",4,4,1,"12308A","ACRBP","chr12:6747295","m.1833G>A(E10)","非编码区","rs1045553",0.64,0.59,0.59,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACRBP",1,86,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489.2"]
["12308A(99)v26267",10,1,0.1,"12308A","ACSBG1","chr15:78473090","IVS9+7T>C","非编码区",{"$nulls":7},"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,2,0,"ACSBG1",1,58,"非编码区",16403,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",23205,"15q23-q24","NM_001199377.1"]
["12308A(99)v26268",13,1,0.08,"12308A","ACSBG1","chr15:78474465","c.905C>T(E8)","p.302,G>D",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACSBG1",1,58,"错义",12420,"0.19=4/21","位于基因组单拷贝区域+DNA结构正常",23205,"15q23-q24","NM_001199377.1"]
["12308A(99)v8362",66,26,0.39,"12308A","ACSBG2","chr19:6156483","c.428T>C(E5)","p.143,V>A","rs4807840",0.71,0.72,0.75,0.69,0.69,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSBG2",1,130,"错义",12220,"0.39=43/110","位于基因组单拷贝区域+DNA结构正常",81616,"19p13.3","NM_030924.3"]
["12308A(99)v24845",36,19,0.53,"12308A","ACSF2","chr17:48539035","c.495T>C(E4)","p.165,Y>Y","rs9674937",0.34,0.089,0.076,0.1,0.1,0.098,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSF2",1,68,"同义",13203,"0.56=33/59","位于基因组单拷贝区域+DNA结构正常",80221,"17q21.33","NM_025149.4"]
["12308A(99)v24846",21,9,0.43,"12308A","ACSF2","chr17:48549791","c.1326C>G(E12)","p.442,A>A","rs2305998",0.19,0.13,0.13,0.13,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSF2",1,68,"剪切位点",13202,"0.41=14/34","位于基因组单拷贝区域+DNA结构正常",80221,"17q21.33","NM_025149.4"]
["12308A(99)v2599",76,76,1,"12308A","ACSL1","chr4:185686032","c.1407C>T(E15)","p.469,L>L","rs2292898",0.83,0.93,0.94,0.92,0.9,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,200,"同义",13203,"0.99=138/139","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12308A(99)v2600",45,19,0.42,"12308A","ACSL1","chr4:185687863","c.1176A>G(E13)","p.392,F>F","rs11727009",0.21,0.24,0.23,0.25,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,200,"同义",13203,"0.43=34/79","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12308A(99)v2601",20,10,0.5,"12308A","ACSL1","chr4:185678110","m.2444A>G(E21)","非编码区","rs2292899",0.4,0.65,0.66,0.64,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,200,"非编码区",14200,"0.42=10/24","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12308A(99)v2602",22,22,1,"12308A","ACSL1","chr4:185678118","m.2436C>G(E21)","非编码区","rs4862413",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,200,"非编码区",14200,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12308A(99)v24194",86,85,0.99,"12308A","ACSL3","chr2:223787559","IVS9+10G>A","非编码区","rs11891410",0.9,0.96,0.96,0.96,null,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSL3",1,290,"非编码区",16203,"0.98=145/148","位于基因组单拷贝区域+DNA结构正常",2181,"2q34-q35","NM_004457.3"]
["12308A(99)v21588",89,89,1,"12308A","ACSL5","chr10:114186624","IVS20+7G>A","非编码区","rs2256368",0.96,0.99,0.99,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSL5",1,180,"非编码区",16203,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",51703,"10q25.1-q25.2","NM_016234.3"]
["12308A(99)v22529",132,132,1,"12308A","ACSM1","chr16:20638576","c.1362A>T(E10)","p.454,G>G","rs1692729",0.61,0.86,0.83,0.9,0.84,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,150,"同义",13203,"1.00=240/241","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12308A(99)v22530",70,69,0.99,"12308A","ACSM1","chr16:20635418","c.1647C>T(E12)","p.549,K>K","rs3743690",0.18,0.5,0.46,0.53,0.46,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,150,"剪切位点",13201,"0.99=113/114","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12308A(99)v22531",22,22,1,"12308A","ACSM1","chr16:20636814","c.1458G>A(E11)","p.486,S>S","rs2301672",0.18,0.5,0.46,0.53,0.4,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,150,"同义",13203,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12308A(99)v6433",203,159,0.78,"12308A","ACSM2A","chr16:20488696","c.1104A>G(E10)","p.368,L>L","rs1700805",0.48,0.74,0.68,0.81,0.63,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM2A",1,250,"同义",13203,"0.74=270/364","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12308A(99)v6434",97,76,0.78,"12308A","ACSM2A","chr16:20476852","c.191T>C(E4)","p.64,L>P","rs7187246",0.51,0.73,0.68,0.78,0.65,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM2A",1,250,"错义",12220,"0.77=132/171","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12308A(99)v6435",152,152,1,"12308A","ACSM2A","chr16:20492000","c.1387A>G(E12)","p.463,N>D","rs146233716",0.83,0.77,0.71,0.83,0.87,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM2A",1,250,"错义",12230,"1.00=206/206","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12308A(99)v6436",81,44,0.54,"12308A","ACSM2A","chr16:20498079","m.2052T>G(E15)","非编码区","rs2072080",0.79,0.6,0.63,0.57,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM2A",1,250,"非编码区",14200,"0.52=60/116","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12308A(99)v23864",219,207,0.95,"12308A","ACSM2B","chr16:20576048","c.120C>A(E2)","p.40,V>V","rs112352583",0.27,0.69,0.7,0.69,0.65,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM2B",1,290,"同义",13203,"0.94=359/382","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12308A(99)v23865",71,71,1,"12308A","ACSM2B","chr16:20570661","c.286T>C(E3)","p.96,I>V","rs8056693",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM2B",1,290,"错义",12220,"1.00=99/99","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12308A(99)v23866",115,48,0.42,"12308A","ACSM2B","chr16:20551976","c.1629C>G(E13)","p.543,K>N","rs200472857",0.0008,0.0048,0,0.0097,null,3.8E-3,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ACSM2B",1,290,"错义",12110,"0.37=74/198","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12308A(99)v16238",89,40,0.45,"12308A","ACSM3","chr16:20792188","IVS5+9T>C","非编码区","rs5715",0.63,0.43,0.46,0.4,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSM3",1,300,"非编码区",16203,"0.44=61/138","位于基因组单拷贝区域+DNA结构正常",6296,"16p13.11","NM_005622.3"]
["12308A(99)v6458",58,28,0.48,"12308A","ACSM4","chr12:7463241","c.519A>T(E3)","p.173,P>P","rs7968241",null,0.39,0.38,0.4,0.41,0.38,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACSM4",1,180,"同义",13303,"0.51=46/90","位于基因组多拷贝区域+DNA结构正常",341392,"12p13.31","NM_001080454.1"]
["12308A(99)v13882",2,2,1,"12308A","ACSM5","chr16:20452097","m.2235T>C(E14)","非编码区","rs12599141",0.5,0.73,0.69,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v13883",64,33,0.52,"12308A","ACSM5","chr16:20439199","IVS7+10G>A","非编码区","rs11859961",0.11,0.17,0.17,0.17,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"非编码区",16203,"0.50=55/109","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v13884",97,25,0.26,"12308A","ACSM5","chr16:20442613","c.1278T>C(E10)","p.426,T>T","rs77351186",{"$nulls":4},0.37,0.46,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ACSM5",1,130,"同义",13303,"0.33=56/169","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v13885",34,25,0.74,"12308A","ACSM5","chr16:20441077","c.1079A>G(E8)","p.360,H>R","rs12931877",0.091,0.15,0.15,0.16,0.15,0.02,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"错义",12220,"0.69=34/49","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v13886",36,11,0.31,"12308A","ACSM5","chr16:20441053","c.1055C>G(E8)","p.352,P>R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"错义",12210,"0.34=18/53","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v13887",98,25,0.26,"12308A","ACSM5","chr16:20442608","c.1273C>A(E10)","p.425,P>T","rs79364355",{"$nulls":4},0.37,0.46,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"ACSM5",1,130,"错义",12310,"0.32=55/171","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v13888",72,26,0.36,"12308A","ACSM5","chr16:20442653","IVS10+10G>A","非编码区","rs34985819",0.1,0.14,0.15,0.14,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"非编码区",16203,"0.34=45/131","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v13889",34,34,1,"12308A","ACSM5","chr16:20441084","c.1086T>C(E8)","p.362,T>T","rs8063682",0.54,0.72,0.67,0.78,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"同义",13203,"1.00=48/48","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v13890",35,23,0.66,"12308A","ACSM5","chr16:20441020","c.1022G>A(E8)","p.341,R>K","rs12932087",0.11,0.17,0.17,0.17,0.18,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"错义",12220,"0.62=32/52","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12308A(99)v6048",13,13,1,"12308A","ACSS1","chr20:25038484","c.255G>T(E1)","p.85,T>T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSS1",0.95,70,"同义",13203,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",84532,"20p11.23-p11.21","NM_001252675.1"]
["12308A(99)v29688",66,30,0.45,"12308A","ACSS2","chr20:33509275","IVS12+10G>A","非编码区","rs3818273",0.51,0.44,0.47,0.41,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSS2",0.96,140,"非编码区",16203,"0.46=48/105","位于基因组单拷贝区域+DNA结构正常",55902,"20q11.22","NM_001076552.2"]
["12308A(99)v29689",181,86,0.48,"12308A","ACSS2","chr20:33470694","c.276C>T(E2)","p.92,F>F","rs4911163",0.51,0.44,0.47,0.41,0.43,0.48,"杂合","无关","有rs号，MAF>=5%",20403199,{"$nulls":3},5,null,3,0,"ACSS2",0.96,140,"同义",13203,"0.47=153/325","位于基因组单拷贝区域+DNA结构正常",55902,"20q11.22","NM_001076552.2"]
["12308A(99)v29690",101,35,0.35,"12308A","ACSS2","chr20:33513579-33513580","IVS16+10至IVS16+11:插入G","非编码区","rs149619032",0.013,0.034,0.024,0.044,0.0079,0.061,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"ACSS2",0.96,140,"非编码区",2500,"0.35=37/107","位于基因组单拷贝区域+DNA结构正常",55902,"20q11.22","NM_001076552.2"]
["12308A(99)v11531",4,2,0.5,"12308A","ACTA1","chr1:229568184","IVS3-6C>T","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"3型杆状体肌病","AD,AR",161800,4,1,2,2,"ACTA1",1,25,"剪切位点",16402,"0.60=3/5","位于基因组单拷贝区域+DNA结构正常",58,"1q42.13","NM_001100.3"]
["12308A(99)v11531",4,2,0.5,"12308A","ACTA1","chr1:229568184","IVS3-6C>T","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"先天肌纤维不对称性肌病/先天性肌病伴肌型比例失调","AD",255310,4,1,2,2,"ACTA1",1,25,"剪切位点",16402,"0.60=3/5","位于基因组单拷贝区域+DNA结构正常",58,"1q42.13","NM_001100.3"]
["12308A(99)v11532",4,1,0.25,"12308A","ACTA1","chr1:229567932","c.617G>A(E5)","p.206,A>V",{"$nulls":5},0.0017,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"3型杆状体肌病","AD,AR",161800,2,1,2,2,"ACTA1",1,25,"错义",12410,"0.33=2/6","位于基因组多拷贝区域+DNA结构正常",58,"1q42.13","NM_001100.3"]
["12308A(99)v11532",4,1,0.25,"12308A","ACTA1","chr1:229567932","c.617G>A(E5)","p.206,A>V",{"$nulls":5},0.0017,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"先天肌纤维不对称性肌病/先天性肌病伴肌型比例失调","AD",255310,2,1,2,2,"ACTA1",1,25,"错义",12410,"0.33=2/6","位于基因组多拷贝区域+DNA结构正常",58,"1q42.13","NM_001100.3"]
["12308A(99)v31337",2,1,0.5,"12308A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"多系统平滑肌功能障碍综合征","AD",613834,5,1,1,3,"ACTA2",1,140,"非编码区",14200,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945.1"]
["12308A(99)v31337",2,1,0.5,"12308A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"家族性胸主动脉瘤6型",null,611788,5,2,1,3,"ACTA2",1,140,"非编码区",14200,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945.1"]
["12308A(99)v31337",2,1,0.5,"12308A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"烟雾病5型",null,614042,5,2,1,3,"ACTA2",1,140,"非编码区",14200,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945.1"]
["12308A(99)v11848",34,33,0.97,"12308A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性耳聋20型","AD",604717,5,1,1,2,"ACTG1",1,36,"同义",13203,"0.96=51/53","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12308A(99)v11848",34,33,0.97,"12308A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Baraitser-Winter综合征2",null,614583,5,1,1,2,"ACTG1",1,36,"同义",13203,"0.96=51/53","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12308A(99)v14991",93,50,0.54,"12308A","ACTG2","chr2:74135797","IVS2-3T>C","剪切位点","rs702461",0.58,0.59,0.61,0.57,null,0.49,"杂合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"剪切位点",16202,"0.54=83/154","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12308A(99)v14992",10,4,0.4,"12308A","ACTG2","chr2:74128433","m.117C>T(E2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,null,0.56,"杂合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"非编码区",14200,"0.41=7/17","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12308A(99)v14993",101,51,0.5,"12308A","ACTG2","chr2:74135898","c.225A>G(E3)","p.75,E>E","rs756128",0.57,0.59,0.61,0.57,0.52,0.49,"杂合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"同义",13203,"0.52=89/172","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12308A(99)v27934",150,150,1,"12308A","ACTL6A","chr3:179298999","c.1017C>T(E11)","p.339,D>D","rs1132429",null,0.91,0.93,0.89,0.9,0.89,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACTL6A",1,330,"同义",13303,"1.00=248/248","位于基因组单拷贝区域+DNA结构正常",86,"3q26.33","NM_004301.3"]
["12308A(99)v14169",12,7,0.58,"12308A","ACTL6B","chr7:100240771","m.1486A>T(E14)","非编码区","rs1052897",0.89,0.91,0.9,0.91,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTL6B",0.98,40,"非编码区",14200,"0.53=8/15","位于基因组单拷贝区域+DNA结构正常",51412,"7q22","NM_016188.4"]
["12308A(99)v14170",31,12,0.39,"12308A","ACTL6B","chr7:100247663","c.465G>A(E5)","p.155,T>T","rs372762306",0.0002,0,0,0,null,0.00093,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,2,0,"ACTL6B",0.98,40,"剪切位点",13101,"0.35=18/52","位于基因组单拷贝区域+DNA结构正常",51412,"7q22","NM_016188.4"]
["12308A(99)v26490",12,12,1,"12308A","ACTL7A","chr9:111625913","m.1311A>G(E1)","非编码区","rs4978370",0.88,0.84,0.82,0.86,null,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL7A",1,68,"非编码区",14200,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",10881,"9q31","NM_006687.2"]
["12308A(99)v22152",28,9,0.32,"12308A","ACTL8","chr1:18149566","c.63C>A(E2)","p.21,G>G","rs2296035",0.48,0.68,0.7,0.67,0.62,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL8",1,30,"同义",13203,"0.31=16/51","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812.2"]
["12308A(99)v22153",12,1,0.08,"12308A","ACTL8","chr1:18152745","c.832G>T(E3)","p.278,E>X",{"$nulls":7},"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,3,0,"ACTL8",1,30,"截断",15400,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812.2"]
["12308A(99)v22154",12,7,0.58,"12308A","ACTL8","chr1:18152646","c.733C>T(E3)","p.245,R>C","rs3795322",0.0046,0.026,0.019,0.034,0.023,0.029,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ACTL8",1,30,"错义",12120,"0.63=12/19","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812.2"]
["12308A(99)v4678",6,6,1,"12308A","ACTL9","chr19:8808900","c.152A>G(E1)","p.51,V>A","rs10410943",null,0.85,0.86,0.84,0.8,0.86,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ACTL9",0.76,2.8,"错义",12320,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525.3"]
["12308A(99)v4679",2,2,1,"12308A","ACTL9","chr19:8808373","c.679G>T(E1)","p.227,H>N","rs4804079",0.6,0.68,0.66,0.7,0.54,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL9",0.76,2.8,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525.3"]
["12308A(99)v4680",5,5,1,"12308A","ACTL9","chr19:8808942","c.110A>G(E1)","p.37,F>S","rs2340550",0.79,0.85,0.86,0.84,0.79,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL9",0.76,2.8,"错义",12220,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525.3"]
["12308A(99)v19561",98,49,0.5,"12308A","ACTN1","chr14:69378863","IVS4+10A>G","非编码区","rs2070280",0.32,0.63,0.66,0.61,0.66,0.63,"杂合","无关","有rs号，MAF>=5%",null,"血小板型出血性疾病","AD",615193,5,1,1,1,"ACTN1",1,68,"非编码区",16203,"0.55=94/172","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001102.3"]
["12308A(99)v5828",141,141,1,"12308A","ACTN2","chr1:236883421","c.378C>T(E4)","p.126,N>N","rs1341863",0.92,0.98,0.99,0.97,0.94,0.98,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,6,1,"ACTN2",1,120,"同义",13203,"1.00=255/255","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12308A(99)v5829",33,33,1,"12308A","ACTN2","chr1:236902594","IVS9-8C>G","剪切位点","rs2288601",0.77,0.77,0.77,0.77,0.81,0.8,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,1,6,1,"ACTN2",1,120,"剪切位点",16201,"0.98=63/64","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12308A(99)v5830",105,105,1,"12308A","ACTN2","chr1:236882303","c.351T>C(E3)","p.117,I>I","rs1341864",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,6,1,"ACTN2",1,120,"同义",13203,"1.00=182/182","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12308A(99)v5831",4,4,1,"12308A","ACTN2","chr1:236926030","m.3000A>G(E21)","非编码区","rs1051251",0.35,0.37,0.35,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,1,6,1,"ACTN2",1,120,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12308A(99)v5832",5,1,0.2,"12308A","ACTN2","chr1:236926027","m.2997G>A(E21)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"扩张型心肌病1AA型",null,612158,3,2,6,1,"ACTN2",1,120,"非编码区",14400,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12308A(99)v5833",7,4,0.57,"12308A","ACTN2","chr1:236849979","c.6C>A(E1)","p.2,N>K",{"$nulls":6},1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"扩张型心肌病1AA型",null,612158,3,2,6,1,"ACTN2",1,120,"错义",12420,"0.64=9/14","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12308A(99)v8041",80,30,0.38,"12308A","ACTN4","chr19:39196745","c.546C>T(E5)","p.182,N>N","rs3745859",0.34,0.39,0.41,0.37,0.37,0.44,"杂合","无关","有rs号，MAF>=5%",null,"局灶性节段性肾小球硬化症1型",null,603278,5,2,1,1,"ACTN4",0.98,45,"同义",13203,"0.37=52/140","位于基因组单拷贝区域+DNA结构正常",81,"19q13","NM_004924.4"]
["12308A(99)v8333",4,2,0.5,"12308A","ACTR10","chr14:58666882","m.50A>G(E1)","非编码区","rs61975916",0.38,0.38,0.41,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTR10",1,340,"非编码区",14200,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",55860,"14q23.1","NM_018477.2"]
["12308A(99)v30366",16,8,0.5,"12308A","ACTR1B","chr2:98277090","c.133T>C(E3)","p.45,M>V","rs79616802",0.13,0.026,0.019,0.034,0.029,0.026,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR1B",0.96,50,"错义",12220,"0.50=14/28","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735.3"]
["12308A(99)v30367",29,29,1,"12308A","ACTR1B","chr2:98273661","IVS9-6A>G","剪切位点","rs2290124",0.53,0.38,0.33,0.43,0.39,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR1B",0.96,50,"剪切位点",16202,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735.3"]
["12308A(99)v30368",34,15,0.44,"12308A","ACTR1B","chr2:98273290","m.1370C>T(E11)","非编码区","rs11547232",0.3,0.31,0.26,0.35,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR1B",0.96,50,"非编码区",14200,"0.44=27/61","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735.3"]
["12308A(99)v30369",21,21,1,"12308A","ACTR1B","chr2:98274527","c.804G>C(E8)","p.268,V>V","rs1042705",0.53,0.38,0.33,0.43,0.36,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR1B",0.96,50,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735.3"]
["12308A(99)v30370",10,1,0.1,"12308A","ACTR1B","chr2:98273156","m.1504T>C(E11)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ACTR1B",0.96,50,"非编码区",14400,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735.3"]
["12308A(99)v19908",2,2,1,"12308A","ACTR2","chr2:65496251","m.1798G>T(E10)","非编码区","rs4513276",0.4,0.74,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12308A(99)v19909",21,21,1,"12308A","ACTR2","chr2:65496018","m.1565C>G(E10)","非编码区","rs11424",0.4,0.74,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=23/23","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12308A(99)v19910",1,1,1,"12308A","ACTR2","chr2:65497352","m.2899A>G(E10)","非编码区","rs268877",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12308A(99)v19911",3,3,1,"12308A","ACTR2","chr2:65496144","m.1691A>G(E10)","非编码区","rs190577",0.81,0.8,0.79,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12308A(99)v19912",99,99,1,"12308A","ACTR2","chr2:65495887","m.1434G>A(E10)","非编码区","rs268875",0.81,0.73,0.72,0.73,null,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=139/139","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12308A(99)v19913",96,95,0.99,"12308A","ACTR2","chr2:65481008","IVS6+10A>C","非编码区","rs268871",0.79,0.81,0.8,0.82,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",0.96,250,"非编码区",16203,"0.99=173/174","位于基因组单拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12308A(99)v25996",8,1,0.12,"12308A","ACTR3B","chr7:152551769","m.1312G>A(E10)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ACTR3B",0.96,260,"非编码区",14400,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",57180,"7q36.1","NM_001040135.2"]
["12308A(99)v16849",131,57,0.44,"12308A","ACTR5","chr20:37396120","c.1447A>G(E8)","p.483,I>V","rs2245231",0.43,0.42,0.41,0.42,0.38,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,100,"错义",12220,"0.43=100/235","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12308A(99)v16850",7,6,0.86,"12308A","ACTR5","chr20:37400490","m.1880G>A(E9)","非编码区","rs6128952",0.16,0.14,0.14,0.15,null,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,100,"非编码区",14200,"0.86=6/7","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12308A(99)v16851",7,6,0.86,"12308A","ACTR5","chr20:37400515","m.1905T>A(E9)","非编码区","rs6128953",0.032,0.05,0.043,0.058,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ACTR5",0.79,100,"非编码区",14100,"0.86=6/7","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12308A(99)v16183",105,105,1,"12308A","ACTR8","chr3:53914093","c.167G>A(E2)","p.56,T>I","rs3733082",0.11,0.094,0.1,0.087,0.12,0.13,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,210,"错义",12220,"0.99=172/173","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12308A(99)v16184",69,67,0.97,"12308A","ACTR8","chr3:53905308","c.1518T>C(E11)","p.506,G>G","rs1046677",0.69,0.94,0.93,0.96,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,210,"同义",13203,"0.98=109/111","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12308A(99)v16185",86,86,1,"12308A","ACTR8","chr3:53911783","IVS3-5A>G","剪切位点","rs2276842",0.14,0.21,0.21,0.21,null,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,210,"剪切位点",16202,"1.00=137/137","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12308A(99)v16186",121,121,1,"12308A","ACTR8","chr3:53906513","c.1200G>A(E10)","p.400,I>I","rs4687757",0.69,0.94,0.93,0.96,0.92,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,210,"同义",13203,"1.00=205/206","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12308A(99)v16187",188,83,0.44,"12308A","ACTR8","chr3:53910019","c.867T>C(E7)","p.289,T>T",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ACTR8",1,210,"同义",13403,"0.43=159/371","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12308A(99)v26305",21,21,1,"12308A","ACTRT2","chr1:2939409","m.1364G>T(E1)","非编码区","rs12564513",0.078,0.22,0.23,0.21,null,0.19,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTRT2",1,26,"非编码区",14200,"1.00=33/33","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12308A(99)v26306",20,20,1,"12308A","ACTRT2","chr1:2938697","c.447T>G(E1)","p.149,S>S","rs3795262",0.21,0.45,0.43,0.48,0.39,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTRT2",1,26,"同义",13203,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12308A(99)v26307",27,27,1,"12308A","ACTRT2","chr1:2938265","c.15C>T(E1)","p.5,H>H","rs4576609",0.2,0.45,0.43,0.48,0.45,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTRT2",1,26,"同义",13203,"1.00=48/48","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12308A(99)v1562",3,3,1,"12308A","ACTRT3","chr3:169487437","m.247G>A(E1)","非编码区","rs12637184",0.27,0.56,0.53,0.59,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,140,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487.4"]
["12308A(99)v1563",46,46,1,"12308A","ACTRT3","chr3:169486144","IVS1-6A>G","剪切位点","rs9822885",0.43,0.7,0.68,0.72,null,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,140,"剪切位点",16202,"1.00=76/76","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487.4"]
["12308A(99)v10757",118,118,1,"12308A","ACVR1","chr2:158626980","c.690C>T(E7)","p.230,E>E","rs1146031",0.91,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%","18781190;19299629;23644028","进行性骨化性纤维发育不良","AD",135100,5,1,4,1,"ACVR1",1,210,"同义",13203,"1.00=191/191","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105.4"]
["12308A(99)v10758",36,36,1,"12308A","ACVR1","chr2:158636910","c.270G>A(E4)","p.90,A>A","rs2227861",0.65,0.91,0.91,0.91,0.9,0.93,"纯合","无关","有rs号，MAF>=5%","18781190;19299629","进行性骨化性纤维发育不良","AD",135100,5,1,4,1,"ACVR1",1,210,"同义",13203,"1.00=53/53","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105.4"]
["12308A(99)v10759",114,55,0.48,"12308A","ACVR1","chr2:158634834","c.352G>C(E5)","p.118,Q>E",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"进行性骨化性纤维发育不良","AD",135100,3,1,4,1,"ACVR1",1,210,"错义",12420,"0.50=107/213","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105.4"]
["12308A(99)v10760",119,52,0.44,"12308A","ACVR1","chr2:158634774","c.412A>G(E5)","p.138,L>L","rs529295345",0.0006,0,0,0,null,2E-3,"杂合","未知","预测范围之外的同义突变",null,"进行性骨化性纤维发育不良","AD",135100,4,1,4,1,"ACVR1",1,210,"同义",13103,"0.42=88/209","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105.4"]
["12308A(99)v21428",98,98,1,"12308A","ACVR1C","chr2:158443889","c.114G>A(E2)","p.38,F>F","rs4556933",0.44,0.32,0.34,0.31,0.31,0.31,"纯合","无关","有rs号，MAF>=5%",18781190,{"$nulls":3},5,null,2,0,"ACVR1C",0.95,230,"同义",13203,"0.99=163/164","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_001111032.1"]
["12308A(99)v21429",216,216,1,"12308A","ACVR1C","chr2:158395079","IVS8+6C>G","剪切位点","rs7576514",0.84,0.92,0.95,0.9,null,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACVR1C",0.95,230,"剪切位点",16202,"1.00=365/366","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_001111031.1"]
["12308A(99)v9024",165,76,0.46,"12308A","ACVR2A","chr2:148657117","c.354G>A(E3)","p.118,P>P","rs1128919",0.35,0.48,0.52,0.44,0.51,0.52,"杂合","无关","有rs号，MAF>=5%",19126782,{"$nulls":3},5,null,1,0,"ACVR2A",1,240,"同义",13203,"0.45=145/321","位于基因组单拷贝区域+DNA结构正常",92,"2q22.3","NM_001616.3"]
["12308A(99)v20209",1,1,1,"12308A","ACVRL1","chr12:52315718","m.2836G>T(E10)","非编码区","rs199949661",0.018,0.07,0.076,0.063,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"遗传性出血性毛细血管扩张症1型","AD",600376,3,1,2,1,"ACVRL1",0.98,44,"非编码区",14100,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",94,"12q13.13","NM_000020.2"]
["12308A(99)v20210",1,1,1,"12308A","ACVRL1","chr12:52315719","m.2837C>G(E10)","非编码区","rs56683171",null,0.067,0.076,0.058,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"遗传性出血性毛细血管扩张症1型","AD",600376,3,1,2,1,"ACVRL1",0.98,44,"非编码区",14300,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",94,"12q13.13","NM_000020.2"]
["12308A(99)v19902",21,11,0.52,"12308A","ACY3","chr11:67412771","c.513G>C(E5)","p.171,A>A","rs17148450",0.059,0.15,0.17,0.13,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACY3",0.85,32,"同义",13203,"0.50=16/32","位于基因组单拷贝区域+DNA结构正常",91703,"11q13.2","NM_080658.1"]
["12308A(99)v13989",76,76,1,"12308A","ACYP1","chr14:75520065","m.470T>C(E3)","非编码区","rs7303",0.5,0.83,0.82,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACYP1",1,180,"非编码区",14200,"0.99=114/115","位于基因组单拷贝区域+DNA结构正常",97,"14q24.3","NM_001107.3"]
["12308A(99)v13780",82,82,1,"12308A","ADA","chr20:43264927","c.36C>T(E2)","p.12,V>V","rs394105",0.98,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"由于腺苷脱氨酶缺陷症导致的常染色体隐性遗传重症联合免疫缺陷（T细胞B细胞NK细胞抑制型）","AR",102700,5,1,1,1,"ADA",1,98,"剪切位点",13202,"1.00=136/136","位于基因组单拷贝区域+DNA结构正常",100,"20q13.12","NM_000022.2"]
["12308A(99)v7236",3,2,0.67,"12308A","ADAD2","chr16:84229309","IVS6+6C>G","剪切位点","rs191155110",0.008,0.048,0.033,0.063,null,0.041,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,5,0,"ADAD2",0.85,13,"剪切位点",16101,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12308A(99)v7237",4,4,1,"12308A","ADAD2","chr16:84229559","c.1191T>C(E7)","p.397,S>S","rs2303238",0.81,0.71,0.69,0.73,0.58,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.85,13,"同义",13203,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12308A(99)v7238",5,2,0.4,"12308A","ADAD2","chr16:84229634","c.1266C>A(E7)","p.422,S>R",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ADAD2",0.85,13,"错义",12420,"0.55=6/11","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12308A(99)v7239",4,2,0.5,"12308A","ADAD2","chr16:84229543","c.1175G>A(E7)","p.392,G>D",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ADAD2",0.85,13,"错义",12410,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12308A(99)v7240",52,29,0.56,"12308A","ADAD2","chr16:84227713","c.520C>T(E2)","p.174,R>C","rs78344060",0.038,0.075,0.071,0.078,0.067,0.078,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ADAD2",0.85,13,"错义",12120,"0.53=45/85","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174.3"]
["12308A(99)v28898",132,71,0.54,"12308A","ADAL","chr15:43632549","c.342T>C(E6)","p.114,T>T","rs2278857",0.54,0.5,0.48,0.53,0.44,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAL",1,240,"剪切位点",13202,"0.52=118/228","位于基因组单拷贝区域+DNA结构正常",161823,"15q15.3","NM_001012969.2"]
["12308A(99)v11804",13,13,1,"12308A","ADAM11","chr17:42852610","c.1251T>C(E15)","p.417,C>C","rs1558084",0.9,0.87,0.87,0.87,0.83,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.94,29,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12308A(99)v11805",13,13,1,"12308A","ADAM11","chr17:42852604","c.1245G>T(E15)","p.415,S>S","rs1558083",0.65,0.77,0.76,0.79,0.77,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.94,29,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12308A(99)v11806",4,4,1,"12308A","ADAM11","chr17:42854610","c.1758T>C(E21)","p.586,S>S","rs8075210",0.65,0.77,0.76,0.79,0.74,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.94,29,"同义",13203,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12308A(99)v11807",34,34,1,"12308A","ADAM11","chr17:42855554","c.2220T>C(E25)","p.740,I>I","rs2070605",0.65,0.77,0.76,0.79,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.94,29,"同义",13203,"1.00=55/55","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12308A(99)v11808",4,1,0.25,"12308A","ADAM11","chr17:42837238","c.210G>T(E2)","p.70,R>S","rs201638616",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ADAM11",0.94,29,"错义",12310,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12308A(99)v24018",45,18,0.4,"12308A","ADAM12","chr10:127724778","c.2475A>G(E21)","p.825,A>A","rs1044122",0.27,0.45,0.47,0.44,0.38,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM12",0.97,140,"同义",13203,"0.36=29/81","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12308A(99)v24019",46,21,0.46,"12308A","ADAM12","chr10:127737918","c.1830T>A(E16)","p.610,G>G","rs184387932",0.0004,0.0048,0.0095,0,0.0057,0.0065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ADAM12",0.97,140,"同义",13103,"0.44=30/68","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12308A(99)v24020",2,2,1,"12308A","ADAM12","chr10:127705367","m.3624T>C(E23)","非编码区","rs7916918",0.64,0.79,0.81,0.77,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM12",0.97,140,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12308A(99)v24021",2,2,1,"12308A","ADAM12","chr10:127705404","m.3587A>G(E23)","非编码区","rs7913591",0.63,0.79,0.81,0.77,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM12",0.97,140,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12308A(99)v24022",1,1,1,"12308A","ADAM12","chr10:127705006","m.3985C>T(E23)","非编码区","rs55789966",0.033,0.16,0.16,0.17,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ADAM12",0.97,140,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12308A(99)v31541",22,22,1,"12308A","ADAM15","chr1:155026942","c.602A>C(E6)","p.201,K>T","rs6427128",0.9,1,1,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM15",1,47,"错义",12220,"1.00=35/35","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_001261464.1"]
["12308A(99)v31542",11,8,0.73,"12308A","ADAM15","chr1:155033317","IVS19+9T>C","非编码区","rs11264304",0.7,0.94,0.94,0.94,0.87,0.91,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM15",1,47,"非编码区",16203,"0.80=12/15","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_001261464.1"]
["12308A(99)v24485",13,1,0.08,"12308A","ADAM19","chr5:156932793","c.1014G>A(E11)","p.338,G>G","rs374425944",{"$nulls":5},0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ADAM19",1,100,"同义",13303,"0.11=2/19","位于基因组单拷贝区域+DNA结构正常",8728,"5q33.3","NM_033274.3"]
["12308A(99)v24486",85,35,0.41,"12308A","ADAM19","chr5:156916167","c.2268G>A(E20)","p.756,S>S",{"$nulls":6},1E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ADAM19",1,100,"同义",13403,"0.39=59/151","位于基因组单拷贝区域+DNA结构正常",8728,"5q33.3","NM_033274.3"]
["12308A(99)v15454",13,13,1,"12308A","ADAM20","chr14:70991650","m.220A>C(E2)","非编码区","rs74062730",0.19,0.51,0.46,0.57,null,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM20",1,150,"非编码区",14200,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",8748,"14q24.1","NM_003814.4"]
["12308A(99)v5798",56,55,0.98,"12308A","ADAM21","chr14:70924567","c.351A>T(E2)","p.117,A>A","rs3829453",0.37,0.6,0.59,0.61,0.61,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"0.99=78/79","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5799",59,59,1,"12308A","ADAM21","chr14:70924955","c.739A>C(E2)","p.247,K>Q","rs114864695",0.28,0.54,0.54,0.54,0.5,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"错义",12220,"1.00=87/87","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5800",39,39,1,"12308A","ADAM21","chr14:70924696","c.480G>A(E2)","p.160,K>K","rs77892318",0.25,0.52,0.51,0.52,0.42,0.19,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"1.00=56/56","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5801",111,31,0.28,"12308A","ADAM21","chr14:70924450","c.234C>T(E2)","p.78,V>V","rs58247196",{"$nulls":4},0.28,0.36,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,93,"同义",13303,"0.33=67/201","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5802",41,41,1,"12308A","ADAM21","chr14:70924249","c.33A>G(E2)","p.11,R>R","rs3751521",0.65,0.89,0.9,0.88,0.86,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"1.00=59/59","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5803",105,29,0.28,"12308A","ADAM21","chr14:70924462","c.246A>G(E2)","p.82,L>L","rs3751523",{"$nulls":4},0.51,0.54,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,93,"同义",13303,"0.32=58/179","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5804",27,27,1,"12308A","ADAM21","chr14:70925818","c.1602T>C(E2)","p.534,N>N","rs2022624",0.74,0.9,0.9,0.89,0.8,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"1.00=27/27","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5805",39,39,1,"12308A","ADAM21","chr14:70924697","c.481A>G(E2)","p.161,I>V","rs45545935",0.25,0.52,0.51,0.52,0.43,0.18,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"错义",12220,"1.00=56/56","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5806",87,61,0.7,"12308A","ADAM21","chr14:70924501","c.285C>G(E2)","p.95,D>E","rs8010994",{"$nulls":4},0.8,0.61,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,13,0,"ADAM21",1,93,"错义",12320,"0.64=83/130","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5807",17,17,1,"12308A","ADAM21","chr14:70924072","m.114A>G(E2)","非编码区","rs4143920",0.31,0.54,0.54,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"非编码区",14200,"1.00=21/21","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5808",53,53,1,"12308A","ADAM21","chr14:70925257","c.1041A>G(E2)","p.347,L>L","rs12436346",{"$nulls":4},0.99,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,93,"同义",13303,"1.00=68/68","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5809",40,39,0.97,"12308A","ADAM21","chr14:70924693","c.477T>C(E2)","p.159,Y>Y","rs45480894",0.26,0.52,0.52,0.52,0.41,0.26,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"0.98=56/57","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v5810",56,56,1,"12308A","ADAM21","chr14:70924566","c.350C>G(E2)","p.117,A>G","rs3829452",0.37,0.6,0.59,0.61,0.61,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"错义",12220,"1.00=79/79","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12308A(99)v23522",7,2,0.29,"12308A","ADAM22","chr7:87564497","c.242C>G(E2)","p.81,P>R","rs2279542",0.63,0.52,0.57,0.47,0.42,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM22",1,250,"错义",12220,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",53616,"7q21","NM_004194.3"]
["12308A(99)v691",73,70,0.96,"12308A","ADAM23","chr2:207459467","c.2085C>T(E23)","p.695,A>A","rs3732079",0.18,0.17,0.15,0.19,0.2,0.17,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM23",0.91,210,"同义",13203,"0.98=120/123","位于基因组单拷贝区域+DNA结构正常",8745,"2q33","NM_003812.2"]
["12308A(99)v26197",198,198,1,"12308A","ADAM28","chr8:24211278","IVS21-5C>T","剪切位点","rs7815643",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"剪切位点",16202,"1.00=384/384","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v26198",162,73,0.45,"12308A","ADAM28","chr8:24207399","c.2013G>C(E19)","p.671,V>V","rs7829944",0.072,0.091,0.062,0.12,0.11,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"同义",13203,"0.45=124/275","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v26199",205,107,0.52,"12308A","ADAM28","chr8:24171051","c.534C>T(E6)","p.178,H>H","rs6996616",0.19,0.39,0.38,0.41,0.35,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"同义",13203,"0.57=207/366","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v26200",113,50,0.44,"12308A","ADAM28","chr8:24197017","c.1606G>A(E15)","p.536,E>K","rs200784274",0.0008,0.0048,0.0048,0.0049,0.0046,2.8E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,10,0,"ADAM28",1,240,"错义",12120,"0.42=79/187","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v26201",94,47,0.5,"12308A","ADAM28","chr8:24188844","IVS12+4T>C","剪切位点","rs2278467",0.22,0.4,0.39,0.42,null,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"剪切位点",16202,"0.50=75/151","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v26202",31,31,1,"12308A","ADAM28","chr8:24193264","m.1760T>C(E14)","非编码区","rs4872222",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"非编码区",14200,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_021777.3"]
["12308A(99)v26203",153,69,0.45,"12308A","ADAM28","chr8:24207438","c.2052G>A(E19)","p.684,M>I","rs7829965",0.08,0.091,0.062,0.12,0.12,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"错义",12220,"0.47=121/259","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v26204",130,67,0.52,"12308A","ADAM28","chr8:24201069","c.1962C>T(E18)","p.654,P>P",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ADAM28",1,240,"同义",13403,"0.50=105/210","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v26205",192,192,1,"12308A","ADAM28","chr8:24211331","c.2293G>A(E22)","p.765,V>M","rs7814768",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"错义",12220,"1.00=358/358","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v26206",107,76,0.71,"12308A","ADAM28","chr8:24211994-24211997","m.2488(E23)至m.2491(E23):缺失CTAT","非编码区","rs10610134",0.97,1,1,1,0.14,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,10,0,"ADAM28",1,240,"非编码区",2420,"0.60=86/143","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12308A(99)v16565",151,151,1,"12308A","ADAM32","chr8:39080632","c.1400C>G(E14)","p.467,T>S","rs7845771",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM32",1,300,"错义",12230,"1.00=271/271","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004.5"]
["12308A(99)v6266",5,2,0.4,"12308A","ADAM33","chr20:3651742","c.2151C>G(E19)","p.717,G>G","rs528557",0.39,0.23,0.25,0.2,0.17,0.33,"杂合","无关","有rs号，MAF>=5%","16784537;19146844;19236319;19284602;19317339;21179102;22269827;22583515;23380143;24141861;24562625;24751681;24944803;25068505",{"$nulls":3},5,null,2,0,"ADAM33",0.76,20,"同义",13203,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220.2"]
["12308A(99)v6267",5,2,0.4,"12308A","ADAM33","chr20:3651765","c.2128C>T(E19)","p.710,V>I","rs3918396",0.048,0.019,0.019,0.019,0.012,0.025,"杂合","未知","蛋白结构预测结果为容忍或无害","12695330;16784537;17878941;18778489;19236319;19284602;22871616;23380143;25068505",{"$nulls":3},3,null,2,0,"ADAM33",0.76,20,"错义",12120,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220.2"]
["12308A(99)v16096",249,128,0.51,"12308A","ADAM7","chr8:24356818","c.1912A>C(E17)","p.638,N>H","rs13259668",0.33,0.18,0.15,0.21,0.19,0.18,"杂合","无关","有rs号，MAF>=5%",19435634,{"$nulls":3},5,null,3,0,"ADAM7",1,300,"错义",12210,"0.52=231/442","位于基因组单拷贝区域+DNA结构正常",8756,"8p21.2","NM_003817.3"]
["12308A(99)v16097",152,74,0.49,"12308A","ADAM7","chr8:24359068","c.2187G>A(E20)","p.729,L>L","rs13277171",0.26,0.18,0.15,0.2,0.19,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM7",1,300,"同义",13203,"0.52=135/262","位于基因组单拷贝区域+DNA结构正常",8756,"8p21.2","NM_003817.3"]
["12308A(99)v16098",224,111,0.5,"12308A","ADAM7","chr8:24339679","c.730G>A(E9)","p.244,V>M","rs13255694",0.26,0.17,0.14,0.19,0.19,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM7",1,300,"错义",12210,"0.47=183/389","位于基因组单拷贝区域+DNA结构正常",8756,"8p21.2","NM_003817.3"]
["12308A(99)v3026",3,3,1,"12308A","ADAM8","chr10:135089035","c.103A>G(E2)","p.35,W>R","rs2275725",0.9,0.95,0.96,0.95,0.81,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.95,11,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12308A(99)v3027",13,13,1,"12308A","ADAM8","chr10:135082346","c.1969A>G(E19)","p.657,F>L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,9,0,"ADAM8",0.95,11,"错义",12220,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12308A(99)v3028",13,13,1,"12308A","ADAM8","chr10:135076523","m.2698C>A(E23)","非编码区","rs2995300",0.83,0.94,0.93,0.94,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.95,11,"非编码区",14200,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12308A(99)v3029",5,5,1,"12308A","ADAM8","chr10:135087521","c.136G>A(E3)","p.46,L>F","rs3008326",0.72,0.94,0.93,0.94,0.87,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.95,11,"错义",12220,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001164490.1"]
["12308A(99)v3030",22,22,1,"12308A","ADAM8","chr10:135076596","m.2625T>C(E23)","非编码区","rs2230576",0.74,0.93,0.91,0.94,0.9,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.95,11,"非编码区",14200,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12308A(99)v3031",5,5,1,"12308A","ADAM8","chr10:135085754","c.900G>A(E10)","p.300,T>T","rs1131718",0.88,0.95,0.96,0.95,0.83,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.95,11,"同义",13203,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12308A(99)v3032",13,13,1,"12308A","ADAM8","chr10:135086380","IVS7-10C>T","剪切位点","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.95,11,"剪切位点",16202,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12308A(99)v3033",1,1,1,"12308A","ADAM8","chr10:135085426","c.990A>G(E11)","p.330,C>C","rs1131719",0.92,0.95,0.96,0.95,0.81,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.95,11,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12308A(99)v3034",4,4,1,"12308A","ADAM8","chr10:135085321","c.1095C>T(E11)","p.365,A>A","rs1131720",0.85,0.94,0.93,0.94,0.73,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.95,11,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12308A(99)v12461",106,46,0.43,"12308A","ADAMDEC1","chr8:24256470","c.609C>T(E10)","p.203,S>S","rs2291577",0.29,0.19,0.17,0.22,0.2,0.19,"杂合","无关","有rs号，MAF>=5%",18449420,{"$nulls":3},5,null,4,0,"ADAMDEC1",1,290,"同义",13203,"0.39=73/185","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271.1"]
["12308A(99)v12462",33,19,0.58,"12308A","ADAMDEC1","chr8:24241904","m.107T>C(E1)","非编码区","rs12334642",0.05,0.048,0.062,0.034,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAMDEC1",1,290,"非编码区",14200,"0.55=23/42","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271.1"]
["12308A(99)v12463",211,99,0.47,"12308A","ADAMDEC1","chr8:24261526","c.1094A>G(E14)","p.365,N>S","rs3765124",0.29,0.2,0.17,0.22,0.2,0.19,"杂合","无关","有rs号，MAF>=5%",18449420,{"$nulls":3},5,null,4,0,"ADAMDEC1",1,290,"错义",12210,"0.47=169/362","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271.1"]
["12308A(99)v12464",156,85,0.54,"12308A","ADAMDEC1","chr8:24256052","c.513C>T(E9)","p.171,N>N","rs2291576",0.066,0.11,0.09,0.13,0.068,0.078,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAMDEC1",1,290,"同义",13203,"0.50=144/286","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271.1"]
["12308A(99)v14261",1,1,1,"12308A","ADAMTS1","chr21:28217178","c.96T>G(E1)","p.32,P>P","rs434857",0.69,0.44,0.43,0.44,0.29,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS1",0.89,120,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988.3"]
["12308A(99)v14262",17,1,0.06,"12308A","ADAMTS1","chr21:28209820","m.3437C>A(E9)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ADAMTS1",0.89,120,"非编码区",14400,"0.14=3/21","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988.3"]
["12308A(99)v15396",21,20,0.95,"12308A","ADAMTS10","chr19:8645786","c.3303A>C(E26)","p.1101,H>Q","rs7252299",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,1,1,"ADAMTS10",0.87,29,"错义",12230,"0.96=26/27","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957.2"]
["12308A(99)v17969",36,13,0.36,"12308A","ADAMTS12","chr5:33649807","IVS7-5C>A","剪切位点","rs4504387",0.54,0.73,0.72,0.73,null,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS12",1,130,"剪切位点",16202,"0.38=19/50","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955.2"]
["12308A(99)v17970",38,38,1,"12308A","ADAMTS12","chr5:33535060","c.4484G>A(E23)","p.1495,T>I","rs25754",0.6,0.78,0.79,0.77,0.76,0.78,"纯合","无关","有rs号，MAF>=5%","22505177;24876675",{"$nulls":3},5,null,2,0,"ADAMTS12",1,130,"错义",12210,"1.00=68/68","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955.2"]
["12308A(99)v7004",10,1,0.1,"12308A","ADAMTS13","chr9:136313756","c.2768C>T(E22)","p.923,A>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,3,3,4,1,"ADAMTS13",0.97,25,"错义",12420,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12308A(99)v7005",22,22,1,"12308A","ADAMTS13","chr9:136291063","c.420C>T(E5)","p.140,A>A","rs3118667",0.58,0.84,0.85,0.83,0.8,0.84,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,4,1,"ADAMTS13",0.97,25,"同义",13203,"0.97=33/34","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12308A(99)v7006",7,1,0.14,"12308A","ADAMTS13","chr9:136319605","c.3113C>T(E24)","p.1038,A>V",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,2,3,4,1,"ADAMTS13",0.97,25,"错义",12410,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12308A(99)v7007",78,78,1,"12308A","ADAMTS13","chr9:136304497","c.1716A>G(E15)","p.572,T>T","rs3124768",0.52,0.82,0.82,0.82,0.83,0.82,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,4,1,"ADAMTS13",0.97,25,"同义",13203,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12308A(99)v21295",24,24,1,"12308A","ADAMTS14","chr10:72500763","c.1769T>C(E12)","p.590,L>P","rs10823607",0.8,0.91,0.9,0.93,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",23728906,{"$nulls":3},5,null,5,0,"ADAMTS14",0.98,35,"错义",12220,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12308A(99)v21296",28,14,0.5,"12308A","ADAMTS14","chr10:72520330","c.3393A>G(E22)","p.1131,A>A","rs10823615",0.39,0.28,0.28,0.28,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTS14",0.98,35,"同义",13203,"0.44=17/39","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12308A(99)v21297",17,17,1,"12308A","ADAMTS14","chr10:72500863","c.1869C>G(E12)","p.623,S>S","rs10999500",0.67,0.85,0.83,0.86,0.81,0.87,"纯合","无关","有rs号，MAF>=5%",21283782,{"$nulls":3},5,null,5,0,"ADAMTS14",0.98,35,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12308A(99)v21298",20,12,0.6,"12308A","ADAMTS14","chr10:72503344","c.1965G>A(E13)","p.655,T>T","rs10999502",0.31,0.49,0.48,0.5,0.46,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTS14",0.98,35,"同义",13203,"0.58=22/38","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12308A(99)v21299",27,14,0.52,"12308A","ADAMTS14","chr10:72520259","c.3322C>T(E22)","p.1108,P>S","rs61573157",0.066,0.12,0.09,0.16,0.11,0.094,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTS14",0.98,35,"错义",12220,"0.51=20/39","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12308A(99)v10480",7,7,1,"12308A","ADAMTS15","chr11:130339312","c.1698T>C(E5)","p.566,N>N","rs731446",0.57,0.35,0.34,0.36,0.32,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS15",1,25,"同义",13203,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12308A(99)v10481",14,10,0.71,"12308A","ADAMTS15","chr11:130340962","c.1868A>G(E6)","p.623,N>S","rs11222114",0.07,0.26,0.26,0.25,0.27,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS15",1,25,"错义",12210,"0.78=18/23","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12308A(99)v24500",32,14,0.44,"12308A","ADAMTS16","chr5:5242228","c.2586C>T(E17)","p.862,T>T","rs77812048",0.073,0.19,0.18,0.21,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"同义",13203,"0.42=23/55","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12308A(99)v24501",47,28,0.6,"12308A","ADAMTS16","chr5:5146395","c.328A>G(E3)","p.110,M>V","rs1863968",0.48,0.39,0.35,0.43,0.36,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"错义",12220,"0.60=49/81","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12308A(99)v24502",34,15,0.44,"12308A","ADAMTS16","chr5:5242218","c.2576G>T(E17)","p.859,R>L","rs16875122",0.073,0.19,0.18,0.21,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"错义",12210,"0.39=25/64","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12308A(99)v24503",4,4,1,"12308A","ADAMTS16","chr5:5319407","m.3969T>G(E23)","非编码区","rs16875319",0.37,0.54,0.54,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12308A(99)v24504",48,19,0.4,"12308A","ADAMTS16","chr5:5146377","c.310T>C(E3)","p.104,S>P","rs1019747",0.49,0.52,0.56,0.49,0.48,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"错义",12220,"0.37=28/76","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12308A(99)v24505",119,119,1,"12308A","ADAMTS16","chr5:5200281","c.1350C>T(E9)","p.450,C>C","rs6555335",0.73,0.83,0.82,0.84,0.83,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"同义",13203,"0.99=232/234","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12308A(99)v24506",40,17,0.42,"12308A","ADAMTS16","chr5:5146335","c.268C>G(E3)","p.90,P>A","rs2086310",0.7,0.49,0.49,0.48,0.5,0.51,"杂合","无关","有rs号，MAF>=5%",19423552,{"$nulls":3},5,null,7,0,"ADAMTS16",0.96,100,"错义",12220,"0.38=20/53","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12308A(99)v17839",1,1,1,"12308A","ADAMTS17","chr15:100513722","m.4252T>C(E22)","非编码区","rs2727198",0.57,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,15,1,"ADAMTS17",0.86,67,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17840",6,4,0.67,"12308A","ADAMTS17","chr15:100821576","c.647G>A(E4)","p.216,S>L","rs7496668",0.48,0.49,0.5,0.49,0.4,0.54,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,15,1,"ADAMTS17",0.86,67,"错义",12210,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17841",72,72,1,"12308A","ADAMTS17","chr15:100801698","c.1017G>A(E6)","p.339,A>A","rs4965613",0.69,0.61,0.59,0.62,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,15,1,"ADAMTS17",0.86,67,"同义",13203,"1.00=112/112","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17842",13,13,1,"12308A","ADAMTS17","chr15:100514525","m.3449C>T(E22)","非编码区","rs3825894",0.34,0.4,0.41,0.39,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,15,1,"ADAMTS17",0.86,67,"非编码区",14200,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17843",10,10,1,"12308A","ADAMTS17","chr15:100514494","m.3480T>C(E22)","非编码区","rs2581341",0.59,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,15,1,"ADAMTS17",0.86,67,"非编码区",14200,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17844",18,18,1,"12308A","ADAMTS17","chr15:100514614","c.3281T>C(E22)","p.1094,N>S","rs2573652",0.68,0.56,0.58,0.53,0.47,0.56,"纯合","无关","有rs号，MAF>=5%",19330903,"Weill-Marchesani样综合症","AR",613195,5,1,15,1,"ADAMTS17",0.86,67,"错义",12220,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17845",16,8,0.5,"12308A","ADAMTS17","chr15:100692845","c.1445A>G(E10)","p.482,M>T","rs28567966",0.15,0.065,0.062,0.068,0.052,0.053,"杂合","无关","有rs号，MAF>=5%",19330903,"Weill-Marchesani样综合症","AR",613195,5,3,15,1,"ADAMTS17",0.86,67,"错义",12220,"0.45=10/22","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17846",22,22,1,"12308A","ADAMTS17","chr15:100672237","c.1696T>G(E12)","p.566,R>R","rs12907333",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,15,1,"ADAMTS17",0.86,67,"同义",13203,"0.97=38/39","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17847",1,1,1,"12308A","ADAMTS17","chr15:100513707","m.4267A>G(E22)","非编码区","rs2581359",0.54,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,15,1,"ADAMTS17",0.86,67,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17848",14,14,1,"12308A","ADAMTS17","chr15:100514561","m.3413G>C(E22)","非编码区","rs2581340",{"$nulls":5},0.53,"纯合","未知","UTR突变可能影响蛋白翻译",null,"Weill-Marchesani样综合症","AR",613195,3,1,15,1,"ADAMTS17",0.86,67,"非编码区",14300,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17849",17,1,0.06,"12308A","ADAMTS17","chr15:100657104","c.1836G>A(E13)","p.612,H>H","rs145686969",0.0002,0,0,0,0.00063,0,"杂合","未知","预测范围之外的同义突变",null,"Weill-Marchesani样综合症","AR",613195,4,3,15,1,"ADAMTS17",0.86,67,"同义",13103,"0.10=3/29","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17850",1,1,1,"12308A","ADAMTS17","chr15:100513725","m.4249C>G(E22)","非编码区","rs2581358",null,0.51,0.53,0.49,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"Weill-Marchesani样综合症","AR",613195,3,1,15,1,"ADAMTS17",0.86,67,"非编码区",14300,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17851",10,6,0.6,"12308A","ADAMTS17","chr15:100821426","IVS4+8G>A","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.28,0.3,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,15,1,"ADAMTS17",0.86,67,"非编码区",16203,"0.50=8/16","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17852",234,234,1,"12308A","ADAMTS17","chr15:100794363","c.1053C>T(E7)","p.351,K>K","rs4369638",0.82,0.86,0.84,0.88,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,15,1,"ADAMTS17",0.86,67,"同义",13203,"1.00=408/408","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v17853",9,5,0.56,"12308A","ADAMTS17","chr15:100821467","c.756G>A(E4)","p.252,A>A","rs7496640",null,0.49,0.5,0.49,0.46,0.54,"杂合","未知","预测范围之外的同义突变",null,"Weill-Marchesani样综合症","AR",613195,4,3,15,1,"ADAMTS17",0.86,67,"同义",13303,"0.53=8/15","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12308A(99)v27681",155,154,0.99,"12308A","ADAMTS18","chr16:77359919","c.1876A>T(E13)","p.626,L>I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"错义",12220,"0.99=246/248","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12308A(99)v27682",26,26,1,"12308A","ADAMTS18","chr16:77317756","m.4182G>A(E23)","非编码区","rs889707",0.17,0.18,0.22,0.14,null,null,"纯合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"非编码区",14200,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12308A(99)v27683",34,34,1,"12308A","ADAMTS18","chr16:77353973","c.2305G>T(E16)","p.769,L>I","rs9930984",0.63,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"错义",12220,"1.00=52/52","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12308A(99)v27684",3,3,1,"12308A","ADAMTS18","chr16:77317591","m.4347T>C(E23)","非编码区","rs889706",0.18,0.19,0.23,0.14,null,null,"纯合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12308A(99)v27685",71,30,0.42,"12308A","ADAMTS18","chr16:77401545","c.571A>G(E4)","p.191,Y>H","rs11643211",0.37,0.56,0.57,0.55,0.58,0.57,"杂合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,7,1,"ADAMTS18",1,150,"错义",12220,"0.45=50/111","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12308A(99)v27686",120,53,0.44,"12308A","ADAMTS18","chr16:77389956","c.1341A>G(E9)","p.447,D>D","rs8059275",0.88,0.88,0.87,0.9,0.91,0.91,"杂合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,7,1,"ADAMTS18",1,150,"同义",13203,"0.45=88/195","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12308A(99)v27687",63,62,0.98,"12308A","ADAMTS18","chr16:77323235","c.3476C>G(E22)","p.1159,S>T","rs3743749",0.18,0.2,0.24,0.16,0.19,0.22,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"错义",12220,"0.99=106/107","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12308A(99)v21102",146,146,1,"12308A","ADAMTS19","chr5:128863471","c.1099A>G(E5)","p.367,S>G","rs6595908",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS19",0.88,190,"错义",12220,"1.00=270/270","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638.3"]
["12308A(99)v21103",57,57,1,"12308A","ADAMTS19","chr5:129072943","m.3656G>T(E23)","非编码区","rs1465686",0.95,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS19",0.88,190,"非编码区",14200,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638.3"]
["12308A(99)v21104",88,47,0.53,"12308A","ADAMTS19","chr5:129015452","IVS16-5T>C","剪切位点","rs30645",0.32,0.2,0.22,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS19",0.88,190,"剪切位点",16202,"0.52=73/140","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638.3"]
["12308A(99)v24691",2,2,1,"12308A","ADAMTS2","chr5:178634672","c.733C>T(E4)","p.245,V>I","rs398829",0.43,0.63,0.68,0.59,0.53,0.66,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,3,1,"ADAMTS2",0.85,33,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12308A(99)v24692",5,5,1,"12308A","ADAMTS2","chr5:178634619","c.786C>T(E4)","p.262,A>A","rs423552",0.92,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,3,1,"ADAMTS2",0.85,33,"同义",13203,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12308A(99)v24693",3,3,1,"12308A","ADAMTS2","chr5:178540656","m.3950T>G(E22)","非编码区","rs10479525",0.52,0.62,0.61,0.63,null,null,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,3,1,"ADAMTS2",0.85,33,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12308A(99)v5417",251,114,0.45,"12308A","ADAMTS20","chr12:43860526","c.1296A>G(E9)","p.432,P>P","rs11182088",0.43,0.79,0.82,0.77,0.74,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS20",1,250,"同义",13203,"0.44=214/486","位于基因组单拷贝区域+DNA结构正常",80070,"12q12","NM_025003.3"]
["12308A(99)v11145",117,116,0.99,"12308A","ADAMTS3","chr4:73414286","c.413C>T(E3)","p.138,R>K","rs788908",0.64,0.66,0.65,0.68,0.67,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS3",1,200,"错义",12220,"0.99=197/199","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243.2"]
["12308A(99)v11146",144,134,0.93,"12308A","ADAMTS3","chr4:73433123-73433123","IVS1-5:缺失A","非编码区","rs33925079",0.42,0.45,0.4,0.51,0.075,0.45,"纯合","无关","内含子突变",{"$nulls":4},5,null,3,0,"ADAMTS3",1,200,"非编码区",2500,"0.94=149/159","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243.2"]
["12308A(99)v11147",143,134,0.94,"12308A","ADAMTS3","chr4:73433123-73433124","IVS1-5至IVS1-6:缺失AA插入G","非编码区","rs33925079,rs398092497",{"$nulls":6},"纯合","无关","内含子突变",{"$nulls":4},5,null,3,0,"ADAMTS3",1,200,"非编码区",2500,"0.94=149/158","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243.2"]
["12308A(99)v21264",7,6,0.86,"12308A","ADAMTS4","chr1:161168004","c.414C>T(E1)","p.138,S>S","rs33941127",0.37,0.47,0.46,0.47,0.49,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS4",0.99,34,"同义",13203,"0.86=12/14","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099.4"]
["12308A(99)v21265",15,15,1,"12308A","ADAMTS4","chr1:161163037","c.1877T>C(E7)","p.626,Q>R","rs4233367",0.71,0.88,0.89,0.88,0.83,0.9,"纯合","无关","有rs号，MAF>=5%",19064571,{"$nulls":3},5,null,2,0,"ADAMTS4",0.99,34,"错义",12220,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099.4"]
["12308A(99)v7725",101,35,0.35,"12308A","ADAMTS5","chr21:28302355","c.2075A>G(E7)","p.692,L>P","rs226794",0.81,0.48,0.49,0.47,0.42,0.47,"杂合","无关","有rs号，MAF>=5%","18240210;23491141",{"$nulls":3},5,null,2,0,"ADAMTS5",0.86,110,"错义",12220,"0.33=51/154","位于基因组单拷贝区域+DNA结构正常",11096,"21q21.3","NM_007038.3"]
["12308A(99)v7726",27,14,0.52,"12308A","ADAMTS5","chr21:28296324","m.3570A>G(E8)","非编码区","rs151065",0.78,0.48,0.49,0.47,null,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS5",0.86,110,"非编码区",14200,"0.46=18/39","位于基因组单拷贝区域+DNA结构正常",11096,"21q21.3","NM_007038.3"]
["12308A(99)v17912",101,50,0.5,"12308A","ADAMTS6","chr5:64447777","IVS24-5C>T","剪切位点","rs17206779",0.38,0.4,0.4,0.39,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS6",1,240,"剪切位点",16202,"0.47=84/178","位于基因组单拷贝区域+DNA结构正常",11174,"5q12","NM_197941.2"]
["12308A(99)v3842",26,10,0.38,"12308A","ADAMTS7","chr15:79083120","c.920G>A(E6)","p.307,T>M","rs2127898",{"$nulls":4},0.35,0.32,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"ADAMTS7",0.87,17,"错义",12310,"0.37=17/46","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12308A(99)v3843",5,5,1,"12308A","ADAMTS7","chr15:79058572","c.3681T>G(E19)","p.1227,R>R","rs1809421",null,0.98,0.99,0.98,0.88,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"ADAMTS7",0.87,17,"同义",13303,"1.00=7/7","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12308A(99)v3844",21,21,1,"12308A","ADAMTS7","chr15:79089007","c.744T>C(E4)","p.248,V>V","rs3743057",0.79,0.88,0.87,0.88,0.85,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.87,17,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12308A(99)v3845",2,2,1,"12308A","ADAMTS7","chr15:79058923","c.3330G>A(E19)","p.1110,P>P","rs1809422",0.95,0.92,0.91,0.93,0.77,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.87,17,"同义",13203,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12308A(99)v3846",5,3,0.6,"12308A","ADAMTS7","chr15:79054900","c.4748C>G(E23)","p.1583,G>A","rs7495616",0.67,0.59,0.6,0.57,0.49,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.87,17,"错义",12220,"0.62=5/8","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12308A(99)v3847",10,7,0.7,"12308A","ADAMTS7","chr15:79066581","c.1938G>A(E13)","p.646,D>D","rs74405922",0.1,0.36,0.36,0.37,0.35,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.87,17,"同义",13203,"0.53=10/19","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12308A(99)v18510",32,32,1,"12308A","ADAMTS8","chr11:130281488","c.1574G>A(E6)","p.525,A>V","rs2131535",0.74,0.83,0.83,0.83,0.77,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS8",0.82,26,"错义",12220,"0.98=52/53","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037.4"]
["12308A(99)v28249",72,72,1,"12308A","ADAMTS9","chr3:64532476","c.5022G>C(E32)","p.1674,D>E","rs6787633",0.13,0.23,0.23,0.22,0.22,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS9",1,170,"错义",12220,"1.00=113/113","位于基因组单拷贝区域+DNA结构正常",56999,"3p14.1","NM_182920.1"]
["12308A(99)v19712",2,2,1,"12308A","ADAMTSL1","chr9:18776840","c.2613A>C(E19)","p.871,I>I","rs1549986",0.97,1,1,1,0.8,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL1",0.99,89,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12308A(99)v19713",109,108,0.99,"12308A","ADAMTSL1","chr9:18681821","c.1353A>G(E12)","p.451,T>T","rs13293151",0.28,0.27,0.31,0.22,0.29,0.28,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL1",0.99,89,"同义",13203,"0.99=151/152","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12308A(99)v19714",133,61,0.46,"12308A","ADAMTSL1","chr9:18775810","c.2467C>A(E18)","p.823,L>I","rs934472",0.44,0.47,0.48,0.47,0.46,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL1",0.99,89,"错义",12220,"0.41=99/242","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12308A(99)v19715",18,18,1,"12308A","ADAMTSL1","chr9:18504916","c.153T>A(E2)","p.51,G>G","rs2277160",0.57,0.44,0.4,0.48,0.41,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL1",0.99,89,"同义",13203,"0.97=33/34","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12308A(99)v19716",67,36,0.54,"12308A","ADAMTSL1","chr9:18887908","c.4329G>C(E24)","p.1443,L>L","rs75551645",0.049,0.14,0.16,0.12,0.12,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"ADAMTSL1",0.99,89,"同义",13103,"0.57=69/121","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12308A(99)v19717",11,4,0.36,"12308A","ADAMTSL1","chr9:18474093","m.15T>G(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"ADAMTSL1",0.99,89,"非编码区",14400,"0.38=5/13","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12308A(99)v23666",19,19,1,"12308A","ADAMTSL3","chr15:84581889","c.1746G>A(E16)","p.582,P>P","rs12439867",0.39,0.34,0.31,0.37,0.34,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12308A(99)v23667",290,289,1,"12308A","ADAMTSL3","chr15:84539619","c.868C>G(E9)","p.290,L>V","rs4144691",0.81,0.72,0.7,0.75,0.76,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"错义",12220,"0.99=503/506","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12308A(99)v23668",21,21,1,"12308A","ADAMTSL3","chr15:84581904","c.1761T>C(E16)","p.587,R>R","rs4842923",0.69,0.72,0.69,0.74,0.72,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12308A(99)v23669",27,27,1,"12308A","ADAMTSL3","chr15:84582124","c.1981G>T(E16)","p.661,V>L","rs4842838",0.69,0.72,0.69,0.74,0.73,0.74,"纯合","无关","有rs号，MAF>=5%","19343178;20189936",{"$nulls":3},5,null,6,0,"ADAMTSL3",1,160,"错义",12220,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12308A(99)v23670",66,66,1,"12308A","ADAMTSL3","chr15:84488636","c.437A>G(E6)","p.146,H>R","rs4483821",0.68,0.8,0.79,0.81,0.8,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"错义",12220,"1.00=98/98","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12308A(99)v23671",42,42,1,"12308A","ADAMTSL3","chr15:84651290","c.2910T>C(E21)","p.970,H>H","rs7176737",0.87,0.95,0.93,0.98,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"同义",13203,"1.00=53/53","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12308A(99)v9405",2,1,0.5,"12308A","ADAMTSL4","chr1:150531470","c.2592G>T(E16)","p.864,R>R",{"$nulls":6},0,"杂合","未知","预测范围之外的同义突变",null,"瞳孔晶状体异位","AR",225200,4,3,6,2,"ADAMTSL4",1,32,"同义",13403,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9405",2,1,0.5,"12308A","ADAMTSL4","chr1:150531470","c.2592G>T(E16)","p.864,R>R",{"$nulls":6},0,"杂合","未知","预测范围之外的同义突变",null,"单纯性晶状体异位（隐性遗传）","AR",225100,4,3,6,2,"ADAMTSL4",1,32,"同义",13403,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9406",16,16,1,"12308A","ADAMTSL4","chr1:150531170","c.2604C>T(E15)","p.868,H>H","rs10749658",0.92,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,6,2,"ADAMTSL4",1,32,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_025008.3"]
["12308A(99)v9406",16,16,1,"12308A","ADAMTSL4","chr1:150531170","c.2604C>T(E15)","p.868,H>H","rs10749658",0.92,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,6,2,"ADAMTSL4",1,32,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_025008.3"]
["12308A(99)v9407",7,2,0.29,"12308A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,6,2,"ADAMTSL4",1,32,"同义",13203,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9407",7,2,0.29,"12308A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,6,2,"ADAMTSL4",1,32,"同义",13203,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9408",8,8,1,"12308A","ADAMTSL4","chr1:150531050","c.2484G>A(E15)","p.828,P>P","rs10749657",0.88,0.98,0.99,0.98,0.93,0.97,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,6,2,"ADAMTSL4",1,32,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9408",8,8,1,"12308A","ADAMTSL4","chr1:150531050","c.2484G>A(E15)","p.828,P>P","rs10749657",0.88,0.98,0.99,0.98,0.93,0.97,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,6,2,"ADAMTSL4",1,32,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9409",46,22,0.48,"12308A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,6,2,"ADAMTSL4",1,32,"错义",12220,"0.48=34/71","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9409",46,22,0.48,"12308A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,6,2,"ADAMTSL4",1,32,"错义",12220,"0.48=34/71","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9410",3,2,0.67,"12308A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,6,2,"ADAMTSL4",1,32,"同义",13203,"0.60=3/5","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v9410",3,2,0.67,"12308A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,6,2,"ADAMTSL4",1,32,"同义",13203,"0.60=3/5","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12308A(99)v26947",16,1,0.06,"12308A","ADAMTSL5","chr19:1510933","c.10C>T(E2)","p.4,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ADAMTSL5",0.9,11,"错义",12420,"0.13=4/31","位于基因组单拷贝区域+DNA结构正常",339366,"19p13.3","NM_213604.2"]
["12308A(99)v26948",6,4,0.67,"12308A","ADAMTSL5","chr19:1506771","c.1009C>G(E10)","p.337,V>L",{"$nulls":5},0.0012,0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ADAMTSL5",0.9,11,"错义",12420,"0.71=5/7","位于基因组单拷贝区域+DNA结构正常",339366,"19p13.3","NM_213604.2"]
["12308A(99)v30585",8,6,0.75,"12308A","ADAP1","chr7:959692","IVS3-5G>A","剪切位点","rs6962883",0.12,0.25,0.25,0.26,0.22,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAP1",0.93,21,"剪切位点",16202,"0.80=12/15","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869.2"]
["12308A(99)v30586",5,4,0.8,"12308A","ADAP1","chr7:940181","c.721C>T(E7)","p.241,G>S","rs10256887",0.87,0.88,0.89,0.88,0.79,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAP1",0.93,21,"错义",12230,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869.2"]
["12308A(99)v2819",42,42,1,"12308A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"纯合","无关","有rs号，MAF>=5%","19434718;21939710","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,100,"错义",12220,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12308A(99)v2819",42,42,1,"12308A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"纯合","无关","有rs号，MAF>=5%","19434718;21939710","遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,100,"错义",12220,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12308A(99)v2820",18,18,1,"12308A","ADAR","chr1:154575040","c.78C>T(E2)","p.26,R>R","rs1802645",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,100,"同义",13203,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12308A(99)v2820",18,18,1,"12308A","ADAR","chr1:154575040","c.78C>T(E2)","p.26,R>R","rs1802645",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,100,"同义",13203,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12308A(99)v2821",77,44,0.57,"12308A","ADAR","chr1:154557685","IVS14+8C>T","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.56,0.54,"杂合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,4,2,"ADAR",1,100,"非编码区",16203,"0.54=65/120","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12308A(99)v2821",77,44,0.57,"12308A","ADAR","chr1:154557685","IVS14+8C>T","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.56,0.54,"杂合","无关","有rs号，MAF>=5%",null,"遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,100,"非编码区",16203,"0.54=65/120","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12308A(99)v2822",52,51,0.98,"12308A","ADAR","chr1:154574820","c.298T>C(E2)","p.100,R>G","rs1466731",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,100,"错义",12230,"0.99=92/93","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12308A(99)v2822",52,51,0.98,"12308A","ADAR","chr1:154574820","c.298T>C(E2)","p.100,R>G","rs1466731",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,100,"错义",12230,"0.99=92/93","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12308A(99)v27483",4,4,1,"12308A","ADARB2","chr10:1229009","m.2670G>A(E10)","非编码区","rs904960",0.65,0.7,0.72,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADARB2",0.83,27,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702.3"]
["12308A(99)v27484",6,6,1,"12308A","ADARB2","chr10:1230968","c.1876C>T(E9)","p.626,A>T","rs2271275",0.54,0.65,0.65,0.66,0.58,0.68,"纯合","无关","有rs号，MAF>=5%",17544380,{"$nulls":3},5,null,2,0,"ADARB2",0.83,27,"错义",12220,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702.3"]
["12308A(99)v19313",22,22,1,"12308A","ADAT1","chr16:75646685","c.499G>T(E7)","p.167,H>N","rs3743598",0.57,0.81,0.82,0.81,0.78,0.83,"纯合","无关","有rs号，MAF>=5%",16251468,{"$nulls":3},5,null,3,0,"ADAT1",1,140,"错义",12220,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091.3"]
["12308A(99)v19314",81,81,1,"12308A","ADAT1","chr16:75646576","c.608G>T(E7)","p.203,T>N","rs3743599",0.27,0.74,0.73,0.75,0.72,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAT1",1,140,"错义",12220,"0.99=144/146","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091.3"]
["12308A(99)v19315",84,49,0.58,"12308A","ADAT1","chr16:75634192","c.1431C>T(E11)","p.477,Q>Q","rs75248264",0.0024,0.014,0.0095,0.019,0.019,0.016,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAT1",1,140,"同义",13103,"0.59=78/133","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091.3"]
["12308A(99)v12552",4,2,0.5,"12308A","ADAT2","chr6:143749295","m.927G>T(E6)","非编码区","rs1065355",0.2,0.17,0.17,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAT2",1,210,"非编码区",14200,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",134637,"6q24.2","NM_182503.2"]
["12308A(99)v30546",1,1,1,"12308A","ADAT3","chr19:1912986","c.940C>T(E2)","p.314,L>L","rs76159002",0.24,0.22,0.24,0.19,0.2,0.25,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传性精神智力发育迟滞36型","AR",615286,5,1,1,1,"ADAT3",0.39,0.8,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",113179,"19p13.3","NM_138422.2"]
["12308A(99)v8180",49,16,0.33,"12308A","ADCK1","chr14:78285462-78285462","IVS2+6:缺失T","非编码区","rs3214433",0.56,0.49,0.45,0.52,0.093,0.51,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"ADCK1",1,63,"非编码区",2500,"0.31=18/59","位于基因组单拷贝区域+简单重复结构",57143,"14q24.3","NM_001142545.1"]
["12308A(99)v31166",22,11,0.5,"12308A","ADCK3","chr1:227152778","c.255T>G(E3)","p.85,H>Q","rs2297411",0.058,0.065,0.057,0.073,0.046,0.05,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,7,1,"ADCK3",0.98,42,"错义",12220,"0.51=19/37","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12308A(99)v31167",1,1,1,"12308A","ADCK3","chr1:227175228","m.2906A>G(E15)","非编码区","rs12565212",0.021,0.065,0.057,0.073,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,3,1,7,1,"ADCK3",0.98,42,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12308A(99)v31168",43,43,1,"12308A","ADCK3","chr1:227174145","IVS14-9T>C","剪切位点","rs7552783",0.35,0.24,0.25,0.24,0.22,0.22,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,1,7,1,"ADCK3",0.98,42,"剪切位点",16202,"1.00=64/64","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12308A(99)v31169",24,11,0.46,"12308A","ADCK3","chr1:227152761","c.238C>T(E3)","p.80,H>Y","rs76249490",0.016,0.065,0.057,0.073,0.047,0.05,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,3,3,7,1,"ADCK3",0.98,42,"错义",12120,"0.49=18/37","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12308A(99)v31170",55,19,0.35,"12308A","ADCK3","chr1:227172290","c.1440C>T(E12)","p.480,F>F","rs12593",0.24,0.2,0.23,0.17,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,7,1,"ADCK3",0.98,42,"同义",13203,"0.36=33/92","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12308A(99)v31171",38,22,0.58,"12308A","ADCK3","chr1:227174408","c.1914C>T(E15)","p.638,S>S","rs56043893",0.016,0.065,0.057,0.073,0.048,0.052,"杂合","未知","预测范围之外的同义突变",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,4,3,7,1,"ADCK3",0.98,42,"同义",13103,"0.58=26/45","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12308A(99)v31172",50,50,1,"12308A","ADCK3","chr1:227174210","c.1716T>C(E15)","p.572,S>S","rs3738725",0.31,0.24,0.25,0.24,0.21,0.23,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,1,7,1,"ADCK3",0.98,42,"同义",13203,"0.98=81/83","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12308A(99)v8679",12,12,1,"12308A","ADCK4","chr19:41211056","c.398T>C(E6)","p.133,H>R","rs3865452",0.48,0.45,0.41,0.49,0.36,0.47,"纯合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,1,1,1,"ADCK4",1,56,"错义",12220,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",79934,"19q13.2","NM_001142555.2"]
["12308A(99)v3749",24,11,0.46,"12308A","ADCK5","chr8:145603114","c.51A>C(E2)","p.17,R>S","rs6599528",0.63,0.66,0.7,0.62,0.59,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCK5",0.92,16,"错义",12220,"0.50=24/48","位于基因组单拷贝区域+DNA结构正常",203054,"8q24.3","NM_174922.3"]
["12308A(99)v3750",31,1,0.03,"12308A","ADCK5","chr8:145617160","c.1034A>T(E10)","p.345,K>M",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ADCK5",0.92,16,"错义",12420,"0.09=4/47","位于基因组单拷贝区域+DNA结构正常",203054,"8q24.3","NM_174922.3"]
["12308A(99)v21828",89,87,0.98,"12308A","ADCY10","chr1:167817639","c.1938A>G(E16)","p.646,G>G","rs203795",0.82,0.85,0.82,0.87,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,4,1,"ADCY10",1,180,"同义",13203,"0.99=145/147","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12308A(99)v21829",21,10,0.48,"12308A","ADCY10","chr1:167778843","m.4748G>A(E30)","非编码区","rs3213588",0.47,0.16,0.15,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,4,1,"ADCY10",1,180,"非编码区",14200,"0.47=15/32","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12308A(99)v21830",93,93,1,"12308A","ADCY10","chr1:167825485","c.1630T>C(E14)","p.544,I>V","rs2071921",0.5,0.7,0.68,0.71,0.65,0.71,"纯合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,4,1,"ADCY10",1,180,"错义",12220,"1.00=164/164","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12308A(99)v21831",76,37,0.49,"12308A","ADCY10","chr1:167815030","c.2319A>G(E18)","p.773,I>I","rs12048517",0.088,0.24,0.23,0.25,0.22,0.25,"杂合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,4,1,"ADCY10",1,180,"同义",13203,"0.43=56/129","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12308A(99)v3238",77,37,0.48,"12308A","ADCY2","chr5:7743787","c.1878C>T(E15)","p.626,S>S","rs62342477",0.32,0.053,0.057,0.049,0.065,0.061,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY2",0.94,150,"同义",13203,"0.54=70/130","位于基因组单拷贝区域+DNA结构正常",108,"5p15.3","NM_020546.2"]
["12308A(99)v17062",15,15,1,"12308A","ADCY3","chr2:25050977","c.2226T>C(E13)","p.742,E>E","rs7566416",0.66,0.85,0.84,0.86,0.79,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"同义",13203,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12308A(99)v17063",3,3,1,"12308A","ADCY3","chr2:25042625","m.3810C>G(E21)","非编码区","rs1044040",0.82,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12308A(99)v17064",19,19,1,"12308A","ADCY3","chr2:25064193","c.1131G>A(E5)","p.377,P>P","rs2241759",0.51,0.74,0.72,0.75,0.71,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"同义",13203,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12308A(99)v17065",47,22,0.47,"12308A","ADCY3","chr2:25141538","c.319A>G(E1)","p.107,S>P","rs11676272",0.57,0.42,0.42,0.42,0.39,0.43,"杂合","无关","有rs号，MAF>=5%",25044758,{"$nulls":3},5,null,6,0,"ADCY3",1,60,"错义",12220,"0.49=41/84","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12308A(99)v17066",51,29,0.57,"12308A","ADCY3","chr2:25047408","IVS15-3A>G","剪切位点","rs7604576",0.52,0.64,0.61,0.67,null,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"剪切位点",16202,"0.59=41/70","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12308A(99)v17067",33,33,1,"12308A","ADCY3","chr2:25046090","c.2871T>C(E17)","p.957,S>S","rs1127568",0.69,0.85,0.84,0.86,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"同义",13203,"1.00=56/56","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12308A(99)v3201",39,38,0.97,"12308A","ADCY4","chr14:24795495","IVS11+10G>A","非编码区","rs17256902",0.3,0.55,0.54,0.55,0.48,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY4",0.95,54,"非编码区",16203,"0.96=51/53","位于基因组单拷贝区域+DNA结构正常",196883,"14q12","NM_001198568.1"]
["12308A(99)v3202",38,38,1,"12308A","ADCY4","chr14:24793600","IVS14-3G>A","剪切位点","rs1884366",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY4",0.95,54,"剪切位点",16202,"1.00=61/61","位于基因组单拷贝区域+DNA结构正常",196883,"14q12","NM_001198568.1"]
["12308A(99)v28276",12,6,0.5,"12308A","ADCY5","chr3:123051444","c.435G>A(E4)","p.145,N>N",{"$nulls":5},0.00075,0,"杂合","未知","预测范围之外的同义突变",null,"家族性运动障碍性面部肌纤维颤搐症","AD",606703,4,1,3,1,"ADCY5",0.8,40,"同义",13403,"0.57=12/21","位于基因组单拷贝区域+DNA结构正常",111,"3q21.1","NM_001199642.1"]
["12308A(99)v28277",3,3,1,"12308A","ADCY5","chr3:123018963","IVS15+4A>G","剪切位点","rs4482616",0.81,0.89,0.9,0.89,0.85,0.88,"纯合","无关","有rs号，MAF>=5%",null,"家族性运动障碍性面部肌纤维颤搐症","AD",606703,5,1,3,1,"ADCY5",0.8,40,"剪切位点",16202,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",111,"3q21.1","NM_001199642.1"]
["12308A(99)v28278",2,1,0.5,"12308A","ADCY5","chr3:123166673","c.720G>A(E1)","p.240,S>S",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"家族性运动障碍性面部肌纤维颤搐症","AD",606703,4,1,3,1,"ADCY5",0.8,40,"同义",13403,"0.33=1/3","位于基因组单拷贝区域+DNA结构正常",111,"3q21.1","NM_183357.2"]
["12308A(99)v24037",24,24,1,"12308A","ADCY7","chr16:50326661","c.612A>G(E4)","p.204,A>A","rs8051594",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY7",1,42,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",113,"16q12.1","NM_001114.3"]
["12308A(99)v21649",97,41,0.42,"12308A","ADCY8","chr8:131921956","c.1638A>G(E6)","p.546,P>P","rs12547243",0.54,0.65,0.7,0.59,0.64,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY8",0.92,110,"剪切位点",13202,"0.38=60/159","位于基因组单拷贝区域+DNA结构正常",114,"8q24","NM_001115.2"]
["12308A(99)v7835",48,48,1,"12308A","ADCY9","chr16:4164364","c.1080C>T(E2)","p.360,R>R","rs2230738",0.32,0.62,0.59,0.66,0.63,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,63,"同义",13203,"1.00=79/79","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12308A(99)v7836",15,15,1,"12308A","ADCY9","chr16:4027605","c.2706C>T(E9)","p.902,A>A","rs2240735",0.47,0.54,0.54,0.53,0.47,0.53,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,63,"同义",13203,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12308A(99)v7837",42,42,1,"12308A","ADCY9","chr16:4033436","c.2316T>C(E7)","p.772,I>M","rs2230739",0.26,0.4,0.4,0.39,0.41,0.49,"纯合","无关","有rs号，MAF>=5%","20386734;20459687;24934404",{"$nulls":3},5,null,6,0,"ADCY9",1,63,"错义",12220,"1.00=75/75","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12308A(99)v7838",22,22,1,"12308A","ADCY9","chr16:4016676","c.3162A>G(E11)","p.1054,H>H","rs2230742",0.73,0.85,0.85,0.85,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,63,"同义",13203,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12308A(99)v7839",28,16,0.57,"12308A","ADCY9","chr16:4015729","m.4648C>T(E11)","非编码区","rs879620",0.34,0.29,0.28,0.3,null,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,63,"非编码区",14200,"0.61=27/44","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12308A(99)v7840",1,1,1,"12308A","ADCY9","chr16:4165432","c.12T>C(E2)","p.4,P>P","rs2530898",1,1,1,1,0.83,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,63,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12308A(99)v18268",2,1,0.5,"12308A","ADCYAP1","chr18:907675","c.126G>A(E3)","p.42,A>A","rs8192597",0.7,0.87,0.85,0.88,0.64,0.85,"杂合","无关","有rs号，MAF>=5%",23981011,{"$nulls":3},5,null,1,0,"ADCYAP1",0.96,30,"同义",13203,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",116,"18p11","NM_001099733.1"]
["12308A(99)v17480",51,26,0.51,"12308A","ADD1","chr4:2916762","c.1757C>G(E13)","p.586,S>C","rs4963",0.24,0.5,0.46,0.54,0.48,0.48,"杂合","无关","有rs号，MAF>=5%",19574959,"原发性高血压",null,145500,5,2,2,1,"ADD1",1,130,"错义",12220,"0.51=46/90","位于基因组单拷贝区域+DNA结构正常",118,"4p16.3","NM_001119.4"]
["12308A(99)v17481",82,47,0.57,"12308A","ADD1","chr4:2906707","c.1378G>T(E10)","p.460,G>W","rs4961",0.21,0.5,0.46,0.54,0.5,0.48,"杂合","无关","有rs号，MAF>=5%","18279468;18398333;18513389;18660489;18787518;19131662;19199261;19263529;19330901;19379518;19559392;19574959;19838659;19927152;19960031;20145305;20565774;21194526;21291465;21339657;22198647;22810272","原发性高血压",null,145500,5,2,2,1,"ADD1",1,130,"错义",12210,"0.52=70/135","位于基因组单拷贝区域+DNA结构正常",118,"4p16.3","NM_001119.4"]
["12308A(99)v7901",23,1,0.04,"12308A","ADD2","chr2:70919599","c.641G>A(E7)","p.214,A>V",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ADD2",0.99,86,"错义",12410,"0.09=4/44","位于基因组单拷贝区域+DNA结构正常",119,"2p13.3","NM_001185054.1"]
["12308A(99)v10176",153,86,0.56,"12308A","ADGB","chr6:147049868","c.2511G>A(E20)","p.837,Q>Q","rs3747756",0.3,0.42,0.44,0.41,0.38,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADGB",1,260,"同义",13203,"0.53=131/248","位于基因组单拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12308A(99)v10177",91,91,1,"12308A","ADGB","chr6:147106841","c.4308A>G(E32)","p.1436,K>K","rs259391",0.55,0.4,0.38,0.42,0.45,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADGB",1,260,"同义",13203,"1.00=154/154","位于基因组单拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12308A(99)v31039",161,88,0.55,"12308A","ADH1B","chr4:100239319","c.143T>C(E3)","p.48,H>R","rs1229984",0.84,0.27,0.24,0.29,0.32,0.27,"杂合","无关","有rs号，MAF>=5%","12050823;16255080;16685648;17185388;17273965;18331377;18382665;18500343;18518925;18936436;18996923;19193628;19262484;19298322;19486361;19526455;19687126;19698717;19737746;19861527;20089146;20158305;20205700;20219057;20700531;20833657;21303386;21351086;21372407;21378355;21437268;21497796;21576033;21895720;21900886;21917409;21926110;21940907;21968928;22144473;22150722;22325912;22560290;22674868;22690706;22930414;23088731;23149980;23414439;23430454;23456092;23743675;23806636;23895337;23969552;24018899;24065783;24093763;24114820;24282520;24553426;24633362;24716453;24735490;25047496;25133033;25192829","酒精依赖症",null,103780,5,2,3,1,"ADH1B",1,340,"错义",12220,"0.55=153/277","位于基因组多拷贝区域+DNA结构正常",125,"4q23","NM_000668.4"]
["12308A(99)v31040",241,237,0.98,"12308A","ADH1B","chr4:100235053","c.753A>G(E6)","p.251,I>I","rs1789882",0.83,0.95,0.96,0.94,0.88,0.91,"纯合","无关","有rs号，MAF>=5%",19193628,"酒精依赖症",null,103780,5,1,3,1,"ADH1B",1,340,"同义",13203,"0.97=392/403","位于基因组多拷贝区域+DNA结构正常",125,"4q23","NM_000668.4"]
["12308A(99)v31041",179,78,0.44,"12308A","ADH1B","chr4:100228945","m.1264T>C(E9)","非编码区","rs17033",0.11,0.1,0.071,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",null,"酒精依赖症",null,103780,5,2,3,1,"ADH1B",1,340,"非编码区",14200,"0.44=140/319","位于基因组多拷贝区域+DNA结构正常",125,"4q23","NM_000668.4"]
["12308A(99)v9454",73,35,0.48,"12308A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"杂合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","迟发型帕金森病（易感）",null,168600,5,2,2,2,"ADH1C",1,320,"同义",13203,"0.49=54/111","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12308A(99)v9454",73,35,0.48,"12308A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"杂合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","酒精依赖症",null,103780,5,2,2,2,"ADH1C",1,320,"同义",13203,"0.49=54/111","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12308A(99)v9455",137,137,1,"12308A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","迟发型帕金森病（易感）",null,168600,5,1,2,2,"ADH1C",1,320,"加长",15200,"1.00=217/218","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12308A(99)v9455",137,137,1,"12308A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","酒精依赖症",null,103780,5,1,2,2,"ADH1C",1,320,"加长",15200,"1.00=217/218","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12308A(99)v2731",147,147,1,"12308A","ADH4","chr4:100045616","c.1120C>T(E9)","p.374,V>I","rs1126673",0.85,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,9,0,"ADH4",1,210,"错义",12220,"1.00=244/244","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12308A(99)v2732",107,107,1,"12308A","ADH4","chr4:100062819","c.135A>G(E3)","p.45,S>S","rs2032349",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,9,0,"ADH4",1,210,"同义",13203,"1.00=175/175","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12308A(99)v2733",147,71,0.48,"12308A","ADH4","chr4:100045615","c.1121A>C(E9)","p.374,V>G","rs56251804",2E-3,0.0048,0.0095,0,0.0011,0.009,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"ADH4",1,210,"错义",12110,"0.47=115/244","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12308A(99)v2734",192,191,0.99,"12308A","ADH4","chr4:100052733","c.765C>A(E6)","p.255,P>P","rs1126670",0.85,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","16685648;17069770;17185388;19193628;19298322",{"$nulls":3},5,null,9,0,"ADH4",1,210,"同义",13203,"0.99=319/321","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12308A(99)v2735",143,143,1,"12308A","ADH4","chr4:100048414","c.925T>C(E7)","p.309,I>V","rs1126671",0.85,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","16220108;16685648;17069770;17185388;17273965;18331377;19193628;19298322;19925625",{"$nulls":3},5,null,9,0,"ADH4",1,210,"错义",12220,"1.00=225/225","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12308A(99)v2736",142,142,1,"12308A","ADH4","chr4:100045574","m.1238T>C(E9)","非编码区","rs1042364",0.88,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADH4",1,210,"非编码区",14200,"1.00=235/236","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12308A(99)v2737",90,90,1,"12308A","ADH4","chr4:100045500","m.1312T>G(E9)","非编码区","rs1042365",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADH4",1,210,"非编码区",14200,"0.99=153/155","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12308A(99)v2738",1,1,1,"12308A","ADH4","chr4:100045141","m.1671C>T(E9)","非编码区","rs1139490",0.8,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADH4",1,210,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12308A(99)v2739",192,3,0.02,"12308A","ADH4","chr4:100047746-100047746","c.1117(E8):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,9,0,"ADH4",1,210,"缺失移码",2140,"0.01=3/219","位于基因组单拷贝区域+简单重复结构",127,"4q22","NM_000670.3"]
["12308A(99)v31291",127,127,1,"12308A","ADH6","chr4:100140306","c.4A>T(E1)","p.2,C>S","rs4699735",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADH6",1,210,"错义",12230,"1.00=206/207","位于基因组单拷贝区域+DNA结构正常",130,"4q23","NM_000672.3"]
["12308A(99)v13087",5,3,0.6,"12308A","ADH7","chr4:100333977","m.1730T>A(E9)","非编码区","rs284786",0.44,0.59,0.57,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADH7",1,230,"非编码区",14200,"0.78=7/9","位于基因组单拷贝区域+DNA结构正常",131,"4q23-q24","NM_000673.4"]
["12308A(99)v18358",49,25,0.51,"12308A","ADHFE1","chr8:67380677","m.1528C>T(E14)","非编码区","rs13682",0.58,0.36,0.36,0.36,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADHFE1",1,250,"非编码区",14200,"0.54=37/69","位于基因组单拷贝区域+DNA结构正常",137872,"8q13.1","NM_144650.2"]
["12308A(99)v18359",179,102,0.57,"12308A","ADHFE1","chr8:67380528","c.1345T>C(E14)","p.449,C>R","rs1060242",0.58,0.36,0.36,0.36,0.39,0.41,"杂合","无关","有rs号，MAF>=5%",17708757,{"$nulls":3},5,null,2,0,"ADHFE1",1,250,"错义",12220,"0.60=189/316","位于基因组单拷贝区域+DNA结构正常",137872,"8q13.1","NM_144650.2"]
["12308A(99)v8581",35,18,0.51,"12308A","ADI1","chr2:3502709","m.657A>G(E4)","非编码区","rs10208494",0.34,0.17,0.15,0.19,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADI1",0.78,100,"非编码区",14200,"0.56=30/54","位于基因组单拷贝区域+DNA结构正常",55256,"2p25.3","NM_018269.3"]
["12308A(99)v8582",19,6,0.32,"12308A","ADI1","chr2:3502625","m.741T>C(E4)","非编码区","rs1130127",0.34,0.17,0.14,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADI1",0.78,100,"非编码区",14200,"0.35=8/23","位于基因组多拷贝区域+DNA结构正常",55256,"2p25.3","NM_018269.3"]
["12308A(99)v8583",94,38,0.4,"12308A","ADI1","chr2:3504687","c.318A>G(E3)","p.106,D>D","rs9950",0.53,0.45,0.45,0.46,0.41,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADI1",0.78,100,"同义",13203,"0.40=68/168","位于基因组单拷贝区域+DNA结构正常",55256,"2p25.3","NM_018269.3"]
["12308A(99)v8584",1,1,1,"12308A","ADI1","chr2:3502198","m.1168T>A(E4)","非编码区","rs3349",0.34,0.17,0.14,0.19,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADI1",0.78,100,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",55256,"2p25.3","NM_018269.3"]
["12308A(99)v15886",1,1,1,"12308A","ADIPOQ","chr3:186572642","m.1019G>A(E4)","非编码区","rs1501298",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"血清脂联素数量性状位点1",null,612556,5,1,1,1,"ADIPOQ",1,130,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",9370,"3q27","NM_001177800.1"]
["12308A(99)v11065",30,30,1,"12308A","ADIPOR1","chr1:202920300","IVS1-8A>C","剪切位点","rs2275737",0.64,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADIPOR1",1,160,"剪切位点",16202,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",51094,"1q32.1","NM_015999.4"]
["12308A(99)v7268",27,27,1,"12308A","ADIPOR2","chr12:1895373","m.1493T>G(E8)","非编码区","rs758169",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADIPOR2",1,140,"非编码区",14200,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",79602,"12p13.31","NM_024551.2"]
["12308A(99)v7269",73,32,0.44,"12308A","ADIPOR2","chr12:1893170","c.963C>T(E7)","p.321,Y>Y","rs9805042",0.24,0.11,0.13,0.083,0.064,0.091,"杂合","无关","有rs号，MAF>=5%","17216283;20178558",{"$nulls":3},5,null,2,0,"ADIPOR2",1,140,"同义",13203,"0.41=47/114","位于基因组单拷贝区域+DNA结构正常",79602,"12p13.31","NM_024551.2"]
["12308A(99)v3385",18,18,1,"12308A","ADNP","chr20:49507892","m.3704T>G(E5)","非编码区","rs761240",0.97,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神智力发育迟滞28型","AD",615873,5,1,1,1,"ADNP",1,140,"非编码区",14200,"1.00=20/20","位于基因组单拷贝区域+DNA结构正常",23394,"20q13.13","NM_015339.2"]
["12308A(99)v11735",26,14,0.54,"12308A","ADNP2","chr18:77896242","c.2946C>T(E4)","p.982,D>D","rs3826595",0.29,0.46,0.51,0.41,0.41,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,94,"同义",13203,"0.53=16/30","位于基因组单拷贝区域+DNA结构正常",22850,"18q23","NM_014913.3"]
["12308A(99)v11736",27,15,0.56,"12308A","ADNP2","chr18:77894844","c.1548G>A(E4)","p.516,P>P","rs3744877",0.42,0.54,0.6,0.48,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,94,"同义",13203,"0.56=23/41","位于基因组单拷贝区域+DNA结构正常",22850,"18q23","NM_014913.3"]
["12308A(99)v21393",1,1,1,"12308A","ADO","chr10:64566572","m.2057T>C(E1)","非编码区","rs10995312",0.33,0.42,0.4,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADO",0.4,4.6,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",84890,"10q21.3","NM_032804.5"]
["12308A(99)v30191",29,12,0.41,"12308A","ADORA1","chr1:203098275","c.306T>G(E3)","p.102,A>A","rs2228079",0.23,0.16,0.16,0.16,0.17,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADORA1",1,70,"同义",13203,"0.41=23/56","位于基因组单拷贝区域+DNA结构正常",134,"1q32.1","NM_000674.2"]
["12308A(99)v12687",12,12,1,"12308A","ADORA2A","chr22:24837301","c.1083T>C(E3)","p.361,Y>Y","rs5751876",0.44,0.5,0.47,0.52,0.44,0.51,"纯合","无关","有rs号，MAF>=5%","18305461;18759349;19565319;19591938;19902562;20334879;20386734;20396431;20520601;22012471;22336631;22940476;23018769;23332182;23535492",{"$nulls":3},5,null,1,0,"ADORA2A",1,28,"同义",13203,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",135,"22q11.23","NM_000675.4"]
["12308A(99)v26473",47,25,0.53,"12308A","ADORA3","chr1:112042632","c.897A>G(E2)","p.299,A>A","rs2229155",0.77,0.76,0.76,0.76,0.75,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADORA3",1,120,"同义",13203,"0.55=37/67","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12308A(99)v26474",7,1,0.14,"12308A","ADORA3","chr1:112042435","m.1861G>T(E2)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ADORA3",1,120,"非编码区",14400,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12308A(99)v26475",6,2,0.33,"12308A","ADORA3","chr1:112042383","m.1913G>A(E2)","非编码区","rs923",0.77,0.76,0.76,0.76,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADORA3",1,120,"非编码区",14200,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12308A(99)v27167",134,134,1,"12308A","ADPGK","chr15:73067234","c.438T>C(E2)","p.146,A>A","rs11634630",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADPGK",0.84,110,"同义",13203,"1.00=259/259","位于基因组单拷贝区域+DNA结构正常",83440,"15q24.1","NM_031284.4"]
["12308A(99)v14249",27,16,0.59,"12308A","ADPRH","chr3:119305169","c.336G>A(E4)","p.112,P>P","rs20569",0.2,0.26,0.25,0.27,0.29,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADPRH",1,74,"同义",13203,"0.60=24/40","位于基因组单拷贝区域+DNA结构正常",141,"3q13.31-q13.33","NM_001125.2"]
["12308A(99)v7230",74,74,1,"12308A","ADPRM","chr17:10614442","c.1010A>G(E4)","p.337,E>G","rs406446",0.49,0.4,0.41,0.38,0.37,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,170,"错义",12220,"1.00=119/119","位于基因组单拷贝区域+DNA结构正常",56985,"17p13.1","NM_020233.4"]
["12308A(99)v7231",4,4,1,"12308A","ADPRM","chr17:10614673","m.1316G>A(E4)","非编码区","rs445928",0.49,0.4,0.41,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,170,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",56985,"17p13.1","NM_020233.4"]
["12308A(99)v28799",50,22,0.44,"12308A","ADRA1B","chr5:159344461","c.549G>A(E1)","p.183,G>G","rs3729604",0.2,0.33,0.3,0.35,0.32,0.37,"杂合","无关","有rs号，MAF>=5%",20008943,{"$nulls":3},5,null,1,0,"ADRA1B",0.69,32,"同义",13203,"0.37=31/83","位于基因组单拷贝区域+DNA结构正常",147,"5q33.3","NM_000679.3"]
["12308A(99)v25558",7,7,1,"12308A","ADRA1D","chr20:4202041","m.1903T>A(E2)","非编码区","rs2236554",0.34,0.33,0.36,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADRA1D",0.87,6.7,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",146,"20p13","NM_000678.3"]
["12308A(99)v24493",1,1,1,"12308A","ADRA2A","chr10:112839579","m.2790A>G(E1)","非编码区","rs553668",0.67,0.53,0.5,0.56,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRA2A",0.84,9,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",150,"10q25.2","NM_000681.3"]
["12308A(99)v24494",5,1,0.2,"12308A","ADRA2A","chr10:112838187","c.433G>T(E1)","p.145,D>Y",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ADRA2A",0.84,9,"错义",12410,"0.20=2/10","位于基因组多拷贝区域+DNA结构正常",150,"10q25.2","NM_000681.3"]
["12308A(99)v24950",2,1,0.5,"12308A","ADRB1","chr10:115804682","c.791G>A(E1)","p.264,R>H",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"静止心率变异型",null,607276,2,2,1,1,"ADRB1",0.56,4.5,"错义",12410,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",153,"10q25.3","NM_000684.2"]
["12308A(99)v13546",7,4,0.57,"12308A","ADRB2","chr5:148206440","c.46G>A(E1)","p.16,G>R","rs1042713",0.48,0.58,0.61,0.55,0.49,0.55,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16741943;16935688;17143563;17150099;17199132;17512307;18191955;18304332;18482449;18513389;18534365;18599530;18603647;18615004;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19553224;19559392;19565482;19576569;19619703;19717003;19745160;19779622;20044476;20049212;20078877;20167428;20230274;20401335;20523301;20592916;21233812;21613201;21883537;22864926;22900502;22985077;23229623;23229733;23463918;23786226;24012958;24201779;24838642;24879436;24944790;24960039;25050782;25111792","哮喘，易感","AD",600807,5,1,3,2,"ADRB2",1,77,"错义",12230,"0.62=5/8","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12308A(99)v13546",7,4,0.57,"12308A","ADRB2","chr5:148206440","c.46G>A(E1)","p.16,G>R","rs1042713",0.48,0.58,0.61,0.55,0.49,0.55,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16741943;16935688;17143563;17150099;17199132;17512307;18191955;18304332;18482449;18513389;18534365;18599530;18603647;18615004;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19553224;19559392;19565482;19576569;19619703;19717003;19745160;19779622;20044476;20049212;20078877;20167428;20230274;20401335;20523301;20592916;21233812;21613201;21883537;22864926;22900502;22985077;23229623;23229733;23463918;23786226;24012958;24201779;24838642;24879436;24944790;24960039;25050782;25111792","体重指数数量性状位点10",null,607514,5,2,3,2,"ADRB2",1,77,"错义",12230,"0.62=5/8","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12308A(99)v13547",62,26,0.42,"12308A","ADRB2","chr5:148207633","c.1239G>A(E1)","p.413,L>L","rs1042720",0.51,0.65,0.67,0.63,0.57,0.62,"杂合","无关","有rs号，MAF>=5%",19284637,"哮喘，易感","AD",600807,5,1,3,2,"ADRB2",1,77,"同义",13203,"0.38=38/99","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12308A(99)v13547",62,26,0.42,"12308A","ADRB2","chr5:148207633","c.1239G>A(E1)","p.413,L>L","rs1042720",0.51,0.65,0.67,0.63,0.57,0.62,"杂合","无关","有rs号，MAF>=5%",19284637,"体重指数数量性状位点10",null,607514,5,2,3,2,"ADRB2",1,77,"同义",13203,"0.38=38/99","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12308A(99)v13548",11,4,0.36,"12308A","ADRB2","chr5:148206473","c.79G>C(E1)","p.27,E>Q","rs1042714",0.8,0.92,0.95,0.89,0.82,0.91,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16600026;16642433;16741943;16935688;17143563;17150099;17199132;17512307;18279468;18304332;18513389;18534365;18599530;18603647;18611262;18615004;18625943;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19379518;19553224;19559392;19565482;19576569;19619703;19717003;19730237;19779622;20049212;20230274;20401335;20523301;20565774;20592916;21059181;21233812;21291465;21395649;21613201;21883537;22199155;22864926;22900502;22985077;23229623;23229733;23463918;23786226;23911093;24012958;24322328;24714117;24960039;25050782;25111792","哮喘，易感","AD",600807,5,1,3,2,"ADRB2",1,77,"错义",12230,"0.38=5/13","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12308A(99)v13548",11,4,0.36,"12308A","ADRB2","chr5:148206473","c.79G>C(E1)","p.27,E>Q","rs1042714",0.8,0.92,0.95,0.89,0.82,0.91,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16600026;16642433;16741943;16935688;17143563;17150099;17199132;17512307;18279468;18304332;18513389;18534365;18599530;18603647;18611262;18615004;18625943;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19379518;19553224;19559392;19565482;19576569;19619703;19717003;19730237;19779622;20049212;20230274;20401335;20523301;20565774;20592916;21059181;21233812;21291465;21395649;21613201;21883537;22199155;22864926;22900502;22985077;23229623;23229733;23463918;23786226;23911093;24012958;24322328;24714117;24960039;25050782;25111792","体重指数数量性状位点10",null,607514,5,2,3,2,"ADRB2",1,77,"错义",12230,"0.38=5/13","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12308A(99)v18118",1,1,1,"12308A","ADRBK1","chr11:67034266","c.96C>A(E1)","p.32,I>I","rs2228418",0.65,0.73,0.69,0.78,0.54,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRBK1",0.97,32,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",156,"11q13.1","NM_001619.3"]
["12308A(99)v18119",7,7,1,"12308A","ADRBK1","chr11:67050292","IVS14+3G>A","剪切位点","rs2071007",0.65,0.73,0.69,0.78,0.61,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRBK1",0.97,32,"剪切位点",16202,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",156,"11q13.1","NM_001619.3"]
["12308A(99)v29390",3,3,1,"12308A","ADRM1","chr20:60882888","IVS7+4A>G","剪切位点","rs2427278",0.95,0.98,1,0.97,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADRM1",0.89,28,"剪切位点",16201,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12308A(99)v29391",21,1,0.05,"12308A","ADRM1","chr20:60878672","c.48G>T(E2)","p.16,R>R",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ADRM1",0.89,28,"同义",13403,"0.12=4/33","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12308A(99)v29392",5,5,1,"12308A","ADRM1","chr20:60881780","c.531T>C(E5)","p.177,L>L","rs2427275",0.96,0.98,1,0.97,0.81,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADRM1",0.89,28,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12308A(99)v29393",23,23,1,"12308A","ADRM1","chr20:60881330","c.408G>A(E4)","p.136,A>A","rs2427273",0.82,0.97,0.98,0.97,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADRM1",0.89,28,"同义",13203,"0.98=40/41","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12308A(99)v13602",7,3,0.43,"12308A","ADSSL1","chr14:105196365","c.136T>C(E1)","p.46,L>L","rs33958252",0.61,0.63,0.62,0.64,0.52,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADSSL1",0.88,57,"同义",13203,"0.29=5/17","位于基因组单拷贝区域+DNA结构正常",122622,"14q32.33","NM_199165.1"]
["12308A(99)v13603",85,38,0.45,"12308A","ADSSL1","chr14:105211221","c.1146C>T(E11)","p.382,N>N","rs12432802",0.2,0.56,0.57,0.54,0.52,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADSSL1",0.88,57,"同义",13203,"0.46=71/153","位于基因组单拷贝区域+DNA结构正常",122622,"14q32.33","NM_152328.3"]
["12308A(99)v13604",66,30,0.45,"12308A","ADSSL1","chr14:105213343","m.1451A>G(E13)","非编码区","rs6644",0.69,0.65,0.65,0.66,0.62,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADSSL1",0.88,57,"非编码区",14200,"0.53=60/113","位于基因组单拷贝区域+DNA结构正常",122622,"14q32.33","NM_152328.3"]
["12308A(99)v11026",19,9,0.47,"12308A","ADTRP","chr6:11779088","m.193C>T(E1)","非编码区","rs2076189",0.35,0.24,0.23,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADTRP",1,230,"非编码区",14200,"0.48=11/23","位于基因组单拷贝区域+DNA结构正常",84830,"6p24.1","NM_001143948.1"]
["12308A(99)v11027",91,49,0.54,"12308A","ADTRP","chr6:11723636","c.658C>T(E6)","p.220,V>I","rs2076185",0.16,0.5,0.49,0.5,0.45,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADTRP",1,230,"错义",12220,"0.56=93/166","位于基因组单拷贝区域+DNA结构正常",84830,"6p24.1","NM_001143948.1"]
["12308A(99)v6669",34,34,1,"12308A","AEBP1","chr7:44148553","c.996A>G(E7)","p.332,T>T","rs2595701",0.79,0.9,0.91,0.88,0.86,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEBP1",0.99,49,"同义",13203,"1.00=50/50","位于基因组单拷贝区域+DNA结构正常",165,"7p13","NM_001129.3"]
["12308A(99)v6670",7,4,0.57,"12308A","AEBP1","chr7:44147485","c.817C>A(E5)","p.273,P>T","rs2537188",0.36,0.27,0.27,0.27,0.21,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEBP1",0.99,49,"错义",12220,"0.64=7/11","位于基因组单拷贝区域+DNA结构正常",165,"7p13","NM_001129.3"]
["12308A(99)v20749",103,56,0.54,"12308A","AEBP2","chr12:19615478","c.706A>G(E2)","p.236,I>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"AEBP2",0.78,180,"错义",12420,"0.50=82/163","位于基因组单拷贝区域+DNA结构正常",121536,"12p12.3","NM_001114176.1"]
["12308A(99)v20750",42,21,0.5,"12308A","AEBP2","chr12:19671083","m.1570C>T(E8)","非编码区","rs371899888",{"$nulls":5},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AEBP2",0.78,180,"非编码区",14300,"0.53=31/59","位于基因组单拷贝区域+DNA结构正常",121536,"12p12.3","NM_153207.4"]
["12308A(99)v20751",198,75,0.38,"12308A","AEBP2","chr12:19626205","c.903T>C(E3)","p.301,G>G","rs56666201",0.093,0.18,0.21,0.14,0.17,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AEBP2",0.78,180,"同义",13203,"0.35=137/389","位于基因组单拷贝区域+DNA结构正常",121536,"12p12.3","NM_001114176.1"]
["12308A(99)v71",4,4,1,"12308A","AEN","chr15:89169858","c.418A>G(E2)","p.140,N>D","rs8027765",0.76,0.77,0.79,0.76,0.72,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AEN",1,14,"错义",12220,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12308A(99)v72",2,2,1,"12308A","AEN","chr15:89173732","m.1336T>C(E4)","非编码区","rs3743474",0.98,0.96,0.95,0.97,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AEN",1,14,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12308A(99)v73",16,16,1,"12308A","AEN","chr15:89172558","c.642G>C(E3)","p.214,T>T","rs3743475",0.75,0.77,0.79,0.76,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AEN",1,14,"同义",13203,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12308A(99)v74",2,2,1,"12308A","AEN","chr15:89173657","m.1261A>T(E4)","非编码区","rs3826038",null,0.78,0.79,0.76,null,0.74,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"AEN",1,14,"非编码区",14300,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12308A(99)v75",11,1,0.09,"12308A","AEN","chr15:89173361","c.814C>T(E4)","p.272,Q>X",{"$nulls":6},0,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,5,0,"AEN",1,14,"截断",15400,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12308A(99)v8195",5,1,0.2,"12308A","AES","chr19:3053944","c.467G>A(E7)","p.156,A>V","rs372744230",{"$nulls":5},0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"AES",1,19,"错义",12320,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",166,"19p13.3","NM_001130.5"]
["12308A(99)v8196",18,1,0.06,"12308A","AES","chr19:3056326","c.218A>G(E4)","p.73,I>T",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AES",1,19,"错义",12410,"0.09=2/22","位于基因组单拷贝区域+DNA结构正常",166,"19p13.3","NM_001130.5"]
["12308A(99)v8197",5,1,0.2,"12308A","AES","chr19:3053951","c.460G>T(E7)","p.154,L>M",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"AES",1,19,"错义",12420,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",166,"19p13.3","NM_001130.5"]
["12308A(99)v2335",78,78,1,"12308A","AFAP1","chr4:7783286","c.1599G>A(E13)","p.533,N>N","rs10516189",0.21,0.49,0.48,0.5,0.46,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=137/137","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12308A(99)v2336",5,5,1,"12308A","AFAP1","chr4:7765193","m.3017A>G(E18)","非编码区","rs2240054",0.27,0.41,0.41,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12308A(99)v2337",57,57,1,"12308A","AFAP1","chr4:7770723","c.2266G>T(E17)","p.756,R>R","rs2285761",0.37,0.65,0.67,0.63,0.67,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=112/112","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12308A(99)v2338",77,77,1,"12308A","AFAP1","chr4:7783163","c.1722G>A(E13)","p.574,S>S","rs28542374",0.63,0.82,0.86,0.79,0.81,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=129/129","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12308A(99)v2339",7,7,1,"12308A","AFAP1","chr4:7774610","c.2190C>T(E16)","p.730,A>A","rs2276967",0.18,0.44,0.44,0.45,0.36,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12308A(99)v2340",127,127,1,"12308A","AFAP1","chr4:7765495","c.2442G>T(E18)","p.814,T>T","rs2240053",0.24,0.4,0.4,0.4,0.42,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=209/209","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12308A(99)v8740",11,1,0.09,"12308A","AFAP1L1","chr5:148679068","IVS1-4G>A","剪切位点",{"$nulls":6},0,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"AFAP1L1",1,66,"剪切位点",16402,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",134265,"5q32","NM_001146337.1"]
["12308A(99)v29997",28,28,1,"12308A","AFAP1L2","chr10:116091555","IVS4+7T>C","非编码区","rs10787524",0.74,0.97,0.97,0.98,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AFAP1L2",0.99,75,"非编码区",16203,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12308A(99)v29998",38,37,0.97,"12308A","AFAP1L2","chr10:116073696","c.726C>T(E7)","p.242,T>T","rs3813722",0.58,0.9,0.88,0.91,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AFAP1L2",0.99,75,"同义",13203,"0.98=56/57","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12308A(99)v29999",33,32,0.97,"12308A","AFAP1L2","chr10:116060387","c.1605T>C(E14)","p.535,R>R","rs2286396",null,0.72,0.72,0.71,0.68,0.73,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"AFAP1L2",0.99,75,"同义",13303,"0.98=52/53","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12308A(99)v30000",23,19,0.83,"12308A","AFAP1L2","chr10:116060194-116060195","IVS14+10至IVS14+9:插入G","非编码区","rs3214266",0.94,1,1,1,0.17,0.99,"杂合","无关","内含子突变",{"$nulls":4},5,null,4,0,"AFAP1L2",0.99,75,"非编码区",2500,"0.83=20/24","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12308A(99)v27709",39,39,1,"12308A","AFF1","chr4:88056925","m.4004A>G(E21)","非编码区","rs342464",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AFF1",1,150,"非编码区",14200,"1.00=58/58","位于基因组单拷贝区域+DNA结构正常",4299,"4q21","NM_001166693.1"]
["12308A(99)v14159",82,81,0.99,"12308A","AFF2","chrX:148055144","IVS15+7A>G","非编码区","rs5980615",null,1,1,1,0.99,1,"纯合","未知","内含子突变可能影响调控",null,"X连锁智力低下,脆性X-F相关","XR",309548,4,1,1,1,"AFF2",1,110,"非编码区",16303,"0.99=131/132","位于基因组单拷贝区域+DNA结构正常",2334,"Xq28","NM_001169122.1"]
["12308A(99)v3926",169,168,0.99,"12308A","AFF3","chr2:100343557","c.1148C>T(E10)","p.383,S>N","rs4851223",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AFF3",0.98,94,"错义",12230,"0.99=297/299","位于基因组单拷贝区域+DNA结构正常",3899,"2q11.2-q12","NM_001025108.1"]
["12308A(99)v28130",146,77,0.53,"12308A","AFG3L2","chr18:12359920","IVS7+6G>A","剪切位点","rs8097342",0.62,0.62,0.61,0.63,0.63,0.6,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,220,"剪切位点",16202,"0.52=133/256","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12308A(99)v28130",146,77,0.53,"12308A","AFG3L2","chr18:12359920","IVS7+6G>A","剪切位点","rs8097342",0.62,0.62,0.61,0.63,0.63,0.6,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,220,"剪切位点",16202,"0.52=133/256","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12308A(99)v28131",138,76,0.55,"12308A","AFG3L2","chr18:12351342","c.1389C>T(E11)","p.463,L>L","rs11080572",0.62,0.62,0.62,0.63,0.6,0.6,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,220,"同义",13203,"0.54=137/254","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12308A(99)v28131",138,76,0.55,"12308A","AFG3L2","chr18:12351342","c.1389C>T(E11)","p.463,L>L","rs11080572",0.62,0.62,0.62,0.63,0.6,0.6,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,220,"同义",13203,"0.54=137/254","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12308A(99)v28132",66,27,0.41,"12308A","AFG3L2","chr18:12329536","m.2616C>G(E17)","非编码区","rs1129115",0.34,0.35,0.37,0.33,null,0.38,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,220,"非编码区",14200,"0.42=36/85","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12308A(99)v28132",66,27,0.41,"12308A","AFG3L2","chr18:12329536","m.2616C>G(E17)","非编码区","rs1129115",0.34,0.35,0.37,0.33,null,0.38,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,220,"非编码区",14200,"0.42=36/85","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12308A(99)v28133",120,69,0.57,"12308A","AFG3L2","chr18:12348285","c.1650T>C(E13)","p.550,E>E","rs11553521",0.71,0.63,0.62,0.65,0.6,0.61,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,220,"同义",13203,"0.54=103/191","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12308A(99)v28133",120,69,0.57,"12308A","AFG3L2","chr18:12348285","c.1650T>C(E13)","p.550,E>E","rs11553521",0.71,0.63,0.62,0.65,0.6,0.61,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,220,"同义",13203,"0.54=103/191","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12308A(99)v22927",1,1,1,"12308A","AFMID","chr17:76203600","m.1548T>C(E11)","非编码区","rs9903738",0.96,0.93,0.93,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AFMID",1,81,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",125061,"17q25.3","NM_001010982.4"]
["12308A(99)v28533",133,71,0.53,"12308A","AFP","chr4:74310844","IVS7+5A>G","剪切位点","rs2298839",0.51,0.65,0.68,0.62,0.64,0.69,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,210,"剪切位点",16202,"0.50=99/197","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28533",133,71,0.53,"12308A","AFP","chr4:74310844","IVS7+5A>G","剪切位点","rs2298839",0.51,0.65,0.68,0.62,0.64,0.69,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,210,"剪切位点",16202,"0.50=99/197","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28534",137,60,0.44,"12308A","AFP","chr4:74302870","IVS1-7T>C","剪切位点","rs16849384",0.42,0.44,0.4,0.48,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,210,"剪切位点",16202,"0.44=116/261","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28534",137,60,0.44,"12308A","AFP","chr4:74302870","IVS1-7T>C","剪切位点","rs16849384",0.42,0.44,0.4,0.48,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,210,"剪切位点",16202,"0.44=116/261","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28535",64,63,0.98,"12308A","AFP","chr4:74318330","c.1641A>G(E12)","p.547,T>T","rs4235117",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,1,5,2,"AFP",1,210,"同义",13203,"0.98=102/104","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28535",64,63,0.98,"12308A","AFP","chr4:74318330","c.1641A>G(E12)","p.547,T>T","rs4235117",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,1,5,2,"AFP",1,210,"同义",13203,"0.98=102/104","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28536",160,71,0.44,"12308A","AFP","chr4:74302071","IVS1+7T>A","非编码区","rs3796678",0.5,0.56,0.6,0.52,0.53,0.59,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,210,"非编码区",16203,"0.45=134/301","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28536",160,71,0.44,"12308A","AFP","chr4:74302071","IVS1+7T>A","非编码区","rs3796678",0.5,0.56,0.6,0.52,0.53,0.59,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,210,"非编码区",16203,"0.45=134/301","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28537",33,33,1,"12308A","AFP","chr4:74313169","IVS7-10T>C","剪切位点","rs7667494",1,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,1,5,2,"AFP",1,210,"剪切位点",16202,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v28537",33,33,1,"12308A","AFP","chr4:74313169","IVS7-10T>C","剪切位点","rs7667494",1,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,1,5,2,"AFP",1,210,"剪切位点",16202,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12308A(99)v11571",5,4,0.8,"12308A","AFTPH","chr2:64819380","m.3278G>A(E9)","非编码区","rs12987864",0.13,0.082,0.076,0.087,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFTPH",1,150,"非编码区",14200,"0.86=6/7","位于基因组单拷贝区域+DNA结构正常",54812,"2p14","NM_001002243.2"]
["12308A(99)v11572",89,49,0.55,"12308A","AFTPH","chr2:64779509","c.901G>A(E2)","p.301,E>K","rs3770740",0.18,0.26,0.22,0.31,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFTPH",1,150,"错义",12220,"0.54=82/152","位于基因组单拷贝区域+DNA结构正常",54812,"2p14","NM_001002243.2"]
["12308A(99)v11573",168,72,0.43,"12308A","AFTPH","chr2:64796817","IVS5+4A>C","剪切位点","rs2287531",0.052,0.17,0.16,0.17,0.13,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFTPH",1,150,"剪切位点",16201,"0.40=121/304","位于基因组单拷贝区域+DNA结构正常",54812,"2p14","NM_001002243.2"]
["12308A(99)v9865",116,116,1,"12308A","AGA","chr4:178359960","c.446G>C(E4)","p.149,T>S","rs2228119",0.92,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,1,2,1,"AGA",1,210,"错义",12220,"1.00=210/210","位于基因组单拷贝区域+DNA结构正常",175,"4q34.3","NM_000027.3"]
["12308A(99)v9866",32,19,0.59,"12308A","AGA","chr4:178352679","m.1352T>G(E9)","非编码区","rs1061814",0.46,0.51,0.57,0.46,null,0.55,"杂合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,3,2,1,"AGA",1,210,"非编码区",14200,"0.57=20/35","位于基因组单拷贝区域+DNA结构正常",175,"4q34.3","NM_000027.3"]
["12308A(99)v15474",49,48,0.98,"12308A","AGAP1","chr2:236957822","c.2011G>A(E16)","p.671,V>I","rs2034648",0.69,0.73,0.72,0.73,0.73,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP1",0.94,79,"错义",12220,"0.99=70/71","位于基因组多拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12308A(99)v15475",3,1,0.33,"12308A","AGAP1","chr2:237033952","m.4358G>T(E18)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AGAP1",0.94,79,"非编码区",14400,"0.40=2/5","位于基因组多拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12308A(99)v15476",8,1,0.12,"12308A","AGAP1","chr2:237029072","c.2351T>C(E17)","p.784,L>P",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AGAP1",0.94,79,"错义",12410,"0.17=2/12","位于基因组多拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12308A(99)v20183",47,21,0.45,"12308A","AGAP11","chr10:88752206","m.567G>A(E4)","非编码区","rs1745903",0.39,0.24,0.21,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,150,"非编码区",14200,"0.48=43/89","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12308A(99)v20184",54,34,0.63,"12308A","AGAP11","chr10:88768423","c.414A>G(E12)","p.138,T>T","rs2641562",0.4,0.69,0.73,0.65,0.68,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,150,"同义",13203,"0.62=46/74","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12308A(99)v20185",134,134,1,"12308A","AGAP11","chr10:88768253","c.244A>G(E12)","p.82,I>V","rs2641563",0.79,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,150,"错义",12220,"1.00=214/214","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12308A(99)v20186",86,85,0.99,"12308A","AGAP11","chr10:88768657","c.648C>T(E12)","p.216,D>D","rs1745901",0.78,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,150,"同义",13203,"0.99=142/144","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12308A(99)v29502",12,7,0.58,"12308A","AGAP2","chr12:58126234","c.1746C>A(E7)","p.582,L>L","rs17852479",0.22,0.091,0.1,0.083,0.084,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGAP2",0.74,38,"同义",13203,"0.61=11/18","位于基因组单拷贝区域+DNA结构正常",116986,"12q14.1","NM_001122772.2"]
["12308A(99)v11281",6,1,0.17,"12308A","AGAP3","chr7:150783959","c.131G>T(E1)","p.44,G>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"AGAP3",0.98,35,"错义",12420,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",116988,"7q36.1","NM_001042535.1"]
["12308A(99)v25302",36,24,0.67,"12308A","AGAP4","chr10:46321904","c.1451C>T(E7)","p.484,R>H","rs202104169",{"$nulls":4},0.41,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AGAP4",1,83,"错义",12310,"0.61=41/67","位于基因组多拷贝区域+DNA结构正常",119016,"10q11.22","NM_133446.2"]
["12308A(99)v20104",136,51,0.38,"12308A","AGAP5","chr10:75442543","c.406C>T(E5)","p.136,E>K","rs200625436",{"$nulls":5},0.29,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"AGAP5",1,160,"错义",12320,"0.40=95/237","位于基因组多拷贝区域+DNA结构正常",729092,"10q22.2","NM_001144000.1"]
["12308A(99)v26303",142,131,0.92,"12308A","AGAP6","chr10:51748684","c.209G>A(E1)","p.70,R>Q","rs61848260",0.5,0.35,0.31,0.39,null,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP6",1,150,"错义",12220,"0.93=251/269","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12308A(99)v26304",7,2,0.29,"12308A","AGAP6","chr10:51748266-51748267","m.189(E1)至m.190(E1):缺失AG","非编码区",null,null,0.16,0.15,0.17,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"AGAP6",1,150,"非编码区",2440,"0.29=2/7","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12308A(99)v16426",3,3,1,"12308A","AGAP7","chr10:51486325","m.3T>C(E1)","非编码区","rs113081690",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"AGAP7",1,140,"非编码区",14300,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",653268,"10q11.23","NM_001077685.1"]
["12308A(99)v16427",19,9,0.47,"12308A","AGAP7","chr10:51464656","c.1800G>C(E7)","p.600,D>E","rs61850063",0.4,0.54,0.52,0.56,0.3,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP7",1,140,"错义",12210,"0.41=9/22","位于基因组多拷贝区域+DNA结构正常",653268,"10q11.23","NM_001077685.1"]
["12308A(99)v16428",54,18,0.33,"12308A","AGAP7","chr10:51465650","c.806C>T(E7)","p.269,R>Q","rs199898426",0.38,0.48,0.45,0.51,0.3,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP7",1,140,"错义",12210,"0.30=26/88","位于基因组多拷贝区域+DNA结构正常",653268,"10q11.23","NM_001077685.1"]
["12308A(99)v16429",73,73,1,"12308A","AGAP7","chr10:51465552","c.904A>T(E7)","p.302,Y>N","rs61850064",{"$nulls":4},0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"AGAP7",1,140,"错义",12320,"1.00=112/112","位于基因组多拷贝区域+DNA结构正常",653268,"10q11.23","NM_001077685.1"]
["12308A(99)v6191",40,32,0.8,"12308A","AGAP8","chr10:51225623","c.1359A>G(E7)","p.453,N>N","rs200187422",0.82,0.88,0.9,0.85,0.49,0,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP8",1,92,"同义",13203,"0.78=45/58","位于基因组多拷贝区域+DNA结构正常",728404,"10q11.23","NM_001077686.1"]
["12308A(99)v6192",35,25,0.71,"12308A","AGAP8","chr10:51225872","c.1110G>T(E7)","p.370,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"AGAP8",1,92,"同义",13403,"0.74=39/53","位于基因组多拷贝区域+DNA结构正常",728404,"10q11.23","NM_001077686.1"]
["12308A(99)v17744",45,45,1,"12308A","AGBL1","chr15:87217613","c.3029A>G(E22)","p.1010,Q>R","rs8028043",0.89,0.92,0.94,0.89,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"错义",12220,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12308A(99)v17745",185,185,1,"12308A","AGBL1","chr15:87531281","c.3147A>C(E23)","p.1049,T>T","rs1006030",0.82,0.9,0.91,0.89,0.88,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"同义",13203,"1.00=317/317","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12308A(99)v17746",114,114,1,"12308A","AGBL1","chr15:86940622","c.2262T>C(E17)","p.754,T>T","rs4362360",0.74,0.87,0.87,0.87,0.88,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"同义",13203,"1.00=197/197","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12308A(99)v17747",144,69,0.48,"12308A","AGBL1","chr15:86814866","c.1866A>G(E14)","p.622,L>L","rs11858435",0.68,0.4,0.43,0.37,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"同义",13203,"0.49=120/245","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12308A(99)v17748",58,26,0.45,"12308A","AGBL1","chr15:86807761","c.1221A>G(E10)","p.407,E>E","rs10520618",0.51,0.37,0.4,0.33,0.35,0.36,"杂合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"同义",13203,"0.43=36/83","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12308A(99)v3460",68,27,0.4,"12308A","AGBL2","chr11:47701528","c.2013C>A(E13)","p.671,M>I","rs12286721",0.58,0.62,0.61,0.63,0.64,0.62,"杂合","无关","有rs号，MAF>=5%",19060910,{"$nulls":3},5,null,2,0,"AGBL2",1,210,"错义",12220,"0.45=48/106","位于基因组多拷贝区域+DNA结构正常",79841,"11p11.2","NM_024783.3"]
["12308A(99)v3461",1,1,1,"12308A","AGBL2","chr11:47681370","m.3366T>G(E19)","非编码区","rs1056387",0.36,0.38,0.39,0.37,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGBL2",1,210,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",79841,"11p11.2","NM_024783.3"]
["12308A(99)v14152",110,54,0.49,"12308A","AGBL3","chr7:134678253","c.134T>A(E4)","p.45,F>Y","rs2348049",0.23,0.19,0.21,0.16,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,250,"错义",12220,"0.47=82/175","位于基因组单拷贝区域+DNA结构正常",340351,"7q33","NM_178563.3"]
["12308A(99)v14153",114,114,1,"12308A","AGBL3","chr7:134719551","c.1209C>G(E7)","p.403,L>L","rs9656447",0.91,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,250,"同义",13203,"0.99=195/196","位于基因组单拷贝区域+DNA结构正常",340351,"7q33","NM_178563.3"]
["12308A(99)v11578",96,94,0.98,"12308A","AGBL5","chr2:27293150","m.2897G>T(E15)","非编码区","rs1053609",0.55,0.71,0.78,0.65,null,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGBL5",1,99,"非编码区",14200,"0.99=168/170","位于基因组单拷贝区域+DNA结构正常",60509,"2p23.3","NM_021831.5"]
["12308A(99)v16833",140,75,0.54,"12308A","AHNAK","chr11:62297447","c.4442T>C(E5)","p.1481,K>R","rs75436331",0.033,0.012,0.024,0,0.013,0.013,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,14,0,"AHNAK",1,180,"错义",12110,"0.50=122/242","位于基因组多拷贝区域+DNA结构正常",79026,"11q12.2","NM_001620.1"]
["12308A(99)v7625",38,23,0.61,"12308A","AHNAK2","chr14:105413575","c.8213C>T(E7)","p.2738,S>N",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,82,0,"AHNAK2",1,66,"错义",12420,"0.53=30/57","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420.2"]
["12308A(99)v7651",41,17,0.41,"12308A","AHNAK2","chr14:105415497","c.6291T>C(E7)","p.2097,K>K","rs201263008",{"$nulls":4},0.27,0.27,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,82,0,"AHNAK2",1,66,"同义",13303,"0.40=28/70","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420.2"]
["12308A(99)v7665",18,5,0.28,"12308A","AHNAK2","chr14:105419559","c.2229A>G(E7)","p.743,L>L","rs74525871",0.2,0.28,0.3,0.26,0.3,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,82,0,"AHNAK2",1,66,"同义",13203,"0.23=6/26","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420.2"]
["12308A(99)v27843",305,2,0.01,"12308A","AK3","chr9:4713090-4713090","c.450(E4):缺失T","缺失移码",{"$nulls":5},0,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,1,0,"AK3",0.78,140,"缺失移码",2140,"0.01=2/340","位于基因组多拷贝区域+简单重复结构",50808,"9p24.1","NM_001199852.1"]
["12308A(99)v17215",11,11,1,"12308A","AKAP2","chr9:112899361","c.1111A>C(E2)","p.371,K>Q","rs4978872",0.93,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AKAP2",0.99,73,"错义",12220,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",11217,"9q31.3","NM_001004065.4"]
["12308A(99)v28418",185,184,0.99,"12308A","AKNAD1","chr1:109363232","c.2184T>C(E14)","p.728,K>K","rs1333130",0.39,0.71,0.72,0.7,0.67,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AKNAD1",1,140,"同义",13203,"1.00=357/358","位于基因组单拷贝区域+DNA结构正常",254268,"1p13.3","NM_152763.4"]
["12308A(99)v23299",16,6,0.38,"12308A","AKT1","chr14:105239894","c.726C>T(E9)","p.242,E>E","rs1130233",0.32,0.6,0.64,0.56,0.5,0.59,"杂合","无关","有rs号，MAF>=5%","16260726;16395129;17464696;18497887;18715757;19051289;19693005;19931325;20046382;20520724;21041608;21187413;21788944;21842521;24632578;24904437;24955105","结肠癌","AD",114500,5,1,1,6,"AKT1",1,38,"同义",13203,"0.30=7/23","位于基因组单拷贝区域+DNA结构正常",207,"14q32.32","NM_001014431.1"]
["12308A(99)v10237",38,38,1,"12308A","ALG10B","chr12:38710819","c.124C>T(E1)","p.42,L>L","rs74618076",0.15,0.47,0.45,0.49,0.43,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ALG10B",1,210,"同义",13203,"1.00=64/64","位于基因组多拷贝区域+DNA结构正常",144245,"12q12","NM_001013620.3"]
["12308A(99)v26679",73,36,0.49,"12308A","ALG8","chr11:77825320","c.665T>C(E6)","p.222,N>S","rs665278",0.15,0.11,0.13,0.092,0.097,0.1,"杂合","无关","有rs号，MAF>=5%",null,"先天性糖基化病1H型",null,608104,5,2,2,1,"ALG8",0.97,280,"错义",12220,"0.50=61/123","位于基因组单拷贝区域+DNA结构正常",79053,"11q14.1","NM_001007027.2"]
["12308A(99)v22929",41,41,1,"12308A","ALOX12B","chr17:7983969","IVS5+7G>C","非编码区","rs2304908",0.45,0.37,0.35,0.39,0.35,0.39,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病2型/先天性非大疱性鱼鳞病样红皮病","AR",242100,5,1,1,1,"ALOX12B",0.99,51,"非编码区",16203,"1.00=68/68","位于基因组单拷贝区域+DNA结构正常",242,"17p13.1","NM_001139.2"]
["12308A(99)v12324",20,10,0.5,"12308A","ALPK3","chr15:85360004","m.94A>C(E1)","非编码区","rs55736017",0.38,0.45,0.49,0.42,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ALPK3",0.92,35,"非编码区",14200,"0.50=13/26","位于基因组单拷贝区域+DNA结构正常",57538,"15q25.2","NM_020778.4"]
["12308A(99)v28957",50,22,0.44,"12308A","ALPPL2","chr2:233273011","c.683C>G(E6)","p.228,P>R","rs75920311",{"$nulls":4},0.11,0.015,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"ALPPL2",0.96,40,"错义",12310,"0.36=29/81","位于基因组多拷贝区域+DNA结构正常",251,"2q37","NM_031313.2"]
["12308A(99)v10671",24,11,0.46,"12308A","AMBN","chr4:71472426","c.1323A>G(E13)","p.441,A>A","rs7680880",0.28,0.14,0.14,0.15,0.13,0.15,"杂合","无关","有rs号，MAF>=5%",24118390,{"$nulls":3},5,null,4,0,"AMBN",1,180,"同义",13203,"0.47=18/38","位于基因组单拷贝区域+DNA结构正常",258,"4q21","NM_016519.5"]
["12308A(99)v27450",59,26,0.44,"12308A","AMIGO2","chr12:47471968","c.818A>C(E3)","p.273,L>R","rs184724217",1.4E-3,0.014,0.014,0.015,null,0.0064,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"AMIGO2",1,100,"错义",12120,"0.46=47/102","位于基因组单拷贝区域+DNA结构正常",347902,"12q13.11","NM_001143668.1"]
["12308A(99)v26580",12,12,1,"12308A","ANKK1","chr11:113270374","c.1683C>T(E8)","p.561,Y>Y","rs2734848",null,0.95,0.96,0.95,0.89,0.96,"纯合","未知","预测范围之外的同义突变",21095016,{"$nulls":3},4,null,4,0,"ANKK1",0.95,39,"同义",13303,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",255239,"11q23.2","NM_178510.1"]
["12308A(99)v27658",2,2,1,"12308A","ANKRA2","chr5:72848225","m.1998T>A(E9)","非编码区","rs15082",0.71,0.86,0.88,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ANKRA2",1,230,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",57763,"5q12-q13","NM_023039.4"]
["12308A(99)v1154",215,101,0.47,"12308A","ANKRD26","chr10:27381349","c.624T>C(E4)","p.208,V>V","rs2297145",0.35,0.57,0.56,0.58,0.49,0.56,"杂合","无关","有rs号，MAF>=5%",16385451,"血小板减少症2型","AD",188000,5,1,5,1,"ANKRD26",1,220,"同义",13203,"0.45=160/356","位于基因组单拷贝区域+DNA结构正常",22852,"10p12.1","NM_001256053.1"]
["12308A(99)v29493",94,94,1,"12308A","ANKRD31","chr5:74442920","c.2316A>G(E14)","p.772,T>T","rs6888707",0.59,0.48,0.45,0.51,0.44,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ANKRD31",1,180,"同义",13203,"1.00=149/149","位于基因组单拷贝区域+DNA结构正常",256006,"5q13.3","NM_001164443.1"]
["12308A(99)v2555",341,341,1,"12308A","ANKRD36","chr2:97864334","c.2694C>T(E44)","p.898,A>A","rs56835800",0.4,0.33,0.29,0.38,0.34,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ANKRD36",1,490,"同义",13203,"1.00=604/604","位于基因组多拷贝区域+DNA结构正常",375248,"2q11.2","NM_001164315.1"]
["12308A(99)v26416",20,9,0.45,"12308A","ANKRD60","chr20:56793764","c.993G>A(E5)","p.331,H>H","rs1192511",0.68,0.57,0.57,0.56,0.53,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ANKRD60",0.69,72,"同义",13203,"0.45=14/31","位于基因组单拷贝区域+DNA结构正常",140731,"20q13.32","XM_001134442.5"]
["12308A(99)v14749",36,16,0.44,"12308A","ANPEP","chr15:90349558","c.257C>T(E2)","p.86,R>Q","rs25653",0.58,0.5,0.47,0.53,0.5,0.47,"杂合","无关","有rs号，MAF>=5%",19330903,{"$nulls":3},5,null,2,0,"ANPEP",1,66,"错义",12220,"0.39=23/59","位于基因组单拷贝区域+DNA结构正常",290,"15q25-q26","NM_001150.2"]
["12308A(99)v16268",3,3,1,"12308A","ANXA3","chr4:79531553","m.1566C>A(E13)","非编码区","rs7317",0.75,0.93,0.92,0.94,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ANXA3",1,290,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",306,"4q21.21","NM_005139.2"]
["12308A(99)v6419",15,1,0.07,"12308A","AP1G2","chr14:24033016","c.1141C>T(E12)","p.381,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"AP1G2",1,59,"错义",12420,"0.16=4/25","位于基因组单拷贝区域+DNA结构正常",8906,"14q11.2","NM_003917.2"]
["12308A(99)v27285",59,59,1,"12308A","APC","chr5:112176559","c.5268T>G(E16)","p.1756,S>S","rs866006",0.67,0.8,0.78,0.81,0.78,0.82,"纯合","无关","有rs号，MAF>=5%","16569251;20333795","家族性腺瘤性息肉病1型","AD",175100,5,1,10,5,"APC",0.98,160,"同义",13203,"1.00=98/98","位于基因组单拷贝区域+DNA结构正常",324,"5q21-q22","NM_000038.5"]
["12308A(99)v27288",139,139,1,"12308A","APC","chr5:112176756","c.5465T>A(E16)","p.1822,V>D","rs459552",0.87,0.9,0.89,0.91,0.89,0.9,"纯合","无关","有rs号，MAF>=5%","14724163;16569251;17221838;18375958;18708403;18992263;20149637;20333795;24078348;11221825;17556698","家族性腺瘤性息肉病1型","AD",175100,5,1,10,5,"APC",0.98,160,"错义",12220,"1.00=223/224","位于基因组单拷贝区域+DNA结构正常",324,"5q21-q22","NM_000038.5"]
["12308A(99)v3401",21,1,0.05,"12308A","APOA4","chr11:116691638","c.1136T>C(E3)","p.379,Q>R",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"APOA4",1,23,"错义",12420,"0.12=4/34","位于基因组单拷贝区域+DNA结构正常",337,"11q23","NM_000482.3"]
["12308A(99)v4036",9,1,0.11,"12308A","APOBEC3D","chr22:39417310","m.193T>A(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"APOBEC3D",1,140,"非编码区",14400,"0.20=2/10","位于基因组多拷贝区域+DNA结构正常",140564,"22q13.1","NM_152426.3"]
["12308A(99)v17868",6,3,0.5,"12308A","APOM","chr6:31625507","IVS5+7G>T","非编码区",null,null,0.13,0.13,0.13,null,0.16,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"APOM",0.59,46,"非编码区",16403,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",55937,"6p21.33","NM_001256169.1"]
["12308A(99)v31786",21,21,1,"12308A","AQP7","chr9:33386395","IVS5+7T>C","非编码区","rs2484931",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"甘油数量症状位点","AR",614411,5,1,7,1,"AQP7",1,71,"非编码区",16203,"1.00=30/30","位于基因组多拷贝区域+DNA结构正常",364,"9p13","NM_001170.1"]
["12308A(99)v13599",27,13,0.48,"12308A","ARHGAP19","chr10:99025611","IVS2+6T>A","剪切位点","rs10882884",0.5,0.71,0.69,0.74,null,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ARHGAP19",0.98,200,"剪切位点",16202,"0.48=21/44","位于基因组单拷贝区域+DNA结构正常",84986,"10q24.1","NM_001204300.1"]
["12308A(99)v1468",66,66,1,"12308A","ARHGAP26","chr5:142254679","c.255A>G(E3)","p.85,R>R","rs185200",0.67,0.87,0.88,0.85,0.85,0.87,"纯合","无关","有rs号，MAF>=5%",null,"幼年型粒单核细胞白血病",null,607785,5,1,3,1,"ARHGAP26",1,160,"同义",13203,"1.00=112/112","位于基因组单拷贝区域+DNA结构正常",23092,"5q31","NM_001135608.1"]
["12308A(99)v23719",29,16,0.55,"12308A","ARHGEF10","chr8:1857548","c.2055T>C(E18)","p.685,Y>Y","rs2294038",0.16,0.17,0.17,0.17,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",null,"神经传导减慢性肌病","AD",608236,5,1,7,1,"ARHGEF10",1,110,"同义",13203,"0.66=29/44","位于基因组单拷贝区域+DNA结构正常",9639,"8p23","NM_014629.2"]
["12308A(99)v1164",3,3,1,"12308A","ARHGEF26","chr3:153840162","c.381C>T(E2)","p.127,S>S","rs13073165",0.2,0.39,0.34,0.45,0.31,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ARHGEF26",0.99,150,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",26084,"3q25.2","NM_001251962.1"]
["12308A(99)v26287",156,156,1,"12308A","ARHGEF28","chr5:73091149","IVS8-7C>T","剪切位点","rs73118524",0.26,0.26,0.26,0.27,0.26,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ARHGEF28",0.92,150,"剪切位点",16202,"1.00=254/255","位于基因组单拷贝区域+DNA结构正常",64283,"5q13.2","NM_001080479.2"]
["12308A(99)v14894",137,61,0.45,"12308A","ARID4A","chr14:58838668","c.3735A>G(E24)","p.1245,S>S","rs1051860",0.54,0.49,0.54,0.45,0.49,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ARID4A",1,220,"同义",13203,"0.44=103/236","位于基因组单拷贝区域+DNA结构正常",5926,"14q23.1","NM_002892.3"]
["12308A(99)v13284",153,71,0.46,"12308A","ARMC4","chr10:28260162","c.1017G>A(E8)","p.339,L>L","rs117723546",1.4E-3,0,0,0,null,0,"杂合","未知","预测范围之外的同义突变",null,"原发性纤毛运动障碍23型","AR",615451,4,3,5,1,"ARMC4",1,200,"同义",13103,"0.47=124/263","位于基因组多拷贝区域+DNA结构正常",55130,"10p12.1-p11.23","NM_018076.2"]
["12308A(99)v29754",18,18,1,"12308A","ARSI","chr5:149677851","c.636A>G(E2)","p.212,Y>Y","rs6579784",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",19262745,{"$nulls":3},5,null,3,0,"ARSI",1,19,"同义",13203,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",340075,"5q32","NM_001012301.2"]
["12308A(99)v4040",5,1,0.2,"12308A","ARVCF","chr22:19960795","c.2285T>C(E14)","p.762,Q>R","rs376268496",{"$nulls":5},0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ARVCF",0.87,19,"错义",12320,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",421,"22q11.21","NM_001670.2"]
["12308A(99)v12396",188,96,0.51,"12308A","ASCC3","chr6:101166095","c.1935G>A(E12)","p.645,L>L","rs41288423",0.46,0.28,0.33,0.24,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ASCC3",1,250,"同义",13203,"0.52=170/330","位于基因组单拷贝区域+DNA结构正常",10973,"6q16","NM_006828.2"]
["12308A(99)v18532",9,1,0.11,"12308A","ASPDH","chr19:51017839","m.109G>T(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ASPDH",0.97,28,"非编码区",14400,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",554235,"19q13.33","NM_001024656.2"]
["12308A(99)v9396",10,1,0.1,"12308A","ASPSCR1","chr17:79975226","m.2069G>T(E17)","非编码区","rs200701013",{"$nulls":4},0.00096,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"软组织腺泡状肉瘤",null,606243,3,2,2,1,"ASPSCR1",0.82,20,"非编码区",14300,"0.12=2/17","位于基因组单拷贝区域+DNA结构正常",79058,"17q25.3","NM_001251888.1"]
["12308A(99)v30840",28,19,0.68,"12308A","ATAT1","chr6:30594827","m.165C>T(E1)","非编码区","rs3814959",0.013,0.019,0.019,0.019,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ATAT1",0.54,30,"非编码区",14100,"0.70=23/33","位于基因组单拷贝区域+DNA结构正常",79969,"6p21.33","NM_001031722.2"]
["12308A(99)v7950",54,40,0.74,"12308A","ATF7IP2","chr16:10524657-10524659","c.180(E4)至c.182(E4):缺失GAC","缺失非移码","rs56252625",0.6,0.68,0.69,0.67,0.076,0.68,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,3,0,"ATF7IP2",1,200,"缺失非移码",2222,"0.74=46/62","位于基因组单拷贝区域+DNA结构正常",80063,"16p13.13","NM_001256160.1"]
["12308A(99)v11346",63,63,1,"12308A","ATP10D","chr4:47560163","c.2307C>A(E12)","p.769,I>I","rs11729411",0.22,0.31,0.32,0.31,0.27,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ATP10D",1,180,"同义",13203,"1.00=97/97","位于基因组单拷贝区域+DNA结构正常",57205,"4p12","NM_020453.3"]
["12308A(99)v16549",108,108,1,"12308A","ATP11C","chrX:138869368","c.1565T>C(E15)","p.522,Y>C","rs17281983",null,0.082,0.11,0.056,0.096,0.13,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ATP11C",1,160,"错义",12310,"1.00=213/214","位于基因组单拷贝区域+DNA结构正常",286410,"Xq27.1","NM_001010986.2"]
["12308A(99)v26338",71,71,1,"12308A","ATP1A4","chr1:160141196","c.1647C>T(E11)","p.549,Y>Y","rs625549",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ATP1A4",1,140,"同义",13203,"1.00=105/105","位于基因组单拷贝区域+DNA结构正常",480,"1q23.2","NM_144699.3"]
["12308A(99)v22768",3,3,1,"12308A","ATP4B","chr13:114312354","c.106T>G(E1)","p.36,R>R","rs9285616",1,1,1,1,0.83,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ATP4B",1,76,"同义",13203,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",496,"13q34","NM_000705.3"]
["12308A(99)v28362",56,56,1,"12308A","ATP7A","chrX:77298857","c.4048G>A(E21)","p.1350,E>K","rs4826245",null,1,1,1,0.97,1,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"枕骨角综合症","XR",304150,3,1,1,3,"ATP7A",1,120,"错义",12320,"1.00=96/96","位于基因组单拷贝区域+DNA结构正常",538,"Xq21.1","NM_000052.5"]
["12308A(99)v28031",88,49,0.56,"12308A","ATP8B2","chr1:154310048","c.1062C>G(E12)","p.354,L>L","rs1760795",0.43,0.66,0.68,0.64,0.61,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ATP8B2",1,97,"同义",13203,"0.54=81/149","位于基因组单拷贝区域+DNA结构正常",57198,"1q21.3","NM_001005855.1"]
["12308A(99)v16641",190,99,0.52,"12308A","ATR","chr3:142277575","c.1776A>T(E8)","p.592,G>G","rs2227930",0.6,0.5,0.46,0.54,0.44,0.46,"杂合","无关","有rs号，MAF>=5%",17010193,"Seckel综合征1","AR",210600,5,3,5,2,"ATR",1,250,"同义",13203,"0.50=151/305","位于基因组单拷贝区域+DNA结构正常",545,"3q23","NM_001184.3"]
["12308A(99)v8631",151,64,0.42,"12308A","AVEN","chr15:34168116","IVS3+10C>G","非编码区","rs10519888",0.11,0.36,0.38,0.33,0.39,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AVEN",0.75,150,"非编码区",16203,"0.40=113/280","位于基因组单拷贝区域+DNA结构正常",57099,"15q13.1","NM_020371.2"]
["12308A(99)v23660",21,7,0.33,"12308A","AZI1","chr17:79182778","c.222T>C(E3)","p.74,R>R","rs62075318",0.42,0.66,0.67,0.65,0.62,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AZI1",0.93,18,"同义",13203,"0.28=10/36","位于基因组单拷贝区域+DNA结构正常",22994,"17q25.3","NM_001009811.2"]
["12308A(99)v30775",2,2,1,"12308A","B4GALT7","chr5:177031348","c.219T>C(E2)","p.73,R>R","rs11537644",0.66,0.78,0.77,0.8,0.66,0.75,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)早衰型","AR",130070,5,1,2,1,"B4GALT7",0.84,26,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",11285,"5q35.2-q35.3","NM_007255.2"]
["12308A(99)v5204",98,35,0.36,"12308A","BAGE2","chr21:11039394","m.810C>T(E6)","非编码区","rs2698623",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,24,0,"BAGE2",0.98,530,"非编码区",14300,"0.38=53/139","位于基因组多拷贝区域+DNA结构正常",85319,"21p","NM_182482.2"]
["12308A(99)v2075",8,5,0.62,"12308A","BATF2","chr11:64756541","m.1016C>T(E3)","非编码区","rs111395969",0.023,0.034,0.029,0.039,null,0.06,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"BATF2",0.73,11,"非编码区",14100,"0.67=8/12","位于基因组单拷贝区域+DNA结构正常",116071,"11q13.1","NM_138456.3"]
["12308A(99)v18207",83,83,1,"12308A","BBS9","chr7:33644948","m.3182C>T(E22)","非编码区","rs1050721",0.61,0.65,0.67,0.64,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Bardet-biedl综合征9型","AR",615986,5,1,2,1,"BBS9",1,240,"非编码区",14200,"1.00=131/131","位于基因组单拷贝区域+DNA结构正常",27241,"7p14","NM_001033604.1"]
["12308A(99)v30072",1,1,1,"12308A","BCL2L2-PABPN1","chr14:23795387","m.2123G>T(E9)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"BCL2L2-PABPN1",1,84,"非编码区",14400,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",100529063,"14q","NM_001199864.1"]
["12308A(99)v8446",158,71,0.45,"12308A","BCLAF1","chr6:136597288","c.1369A>C(E5)","p.457,Y>D","rs1967446",{"$nulls":4},0.5,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,11,0,"BCLAF1",1,280,"错义",12320,"0.44=112/256","位于基因组多拷贝区域+DNA结构正常",9774,"6q22-q23","NM_001077440.1"]
["12308A(99)v12557",77,32,0.42,"12308A","BDNF","chr11:27679916","c.196C>T(E2)","p.66,V>M","rs6265",0.2,0.52,0.53,0.5,0.47,0.49,"杂合","无关","有rs号，MAF>=5%","12836135;15457498;16005437;16497333;16631352;16741941;16962786;17096834;17135278;17196936;17212826;17219016;17293537;17417060;17483451;17503330;17602759;17632285;17656372;17657167;17894414;17918236;18205169;18478177;18534558;18565990;18600033;18698231;18704161;18776599;18813964;18830724;18852698;18957941;19018231;19018715;19079260;19209189;19236730;19258022;19295238;19330778;19336781;19359258;19388013;19412541;19414708;19424874;19461660;19478790;19530966;19582215;19582565;19603419;19699537;19721723;19721846;19844571;19895626;19925205;19940176;19953912;20004415;20008943;20014955;20016225;20033742;20042999;20087404;20127379;20147969;20172611;20191112;20226536;20400928;20418890;20426150;20456319;20478698;20482942;20493546;20574532;20682308;20702703;20712903;20843981;20959432;20966902;21037213;21049304;21097659;21103954;21167606;21172166;21188787;21215389;21300947;21305693;21458533;21491204;21509595;21577214;21640793;21641949;21695421;21723144;21745335;21875455;21880305;21889574;21898033;21931317;21956459;21980924;21996278;22008662;22033217;22047184;22094229;22127997;22173577;22179955;22188054;22548711;22585743;22609366;22610920;22642961;22766130;22813992;22844024;22846907;22910404;22965830;22989210;23023098;23062292;23137999;23184535;23269345;23283688;23303061;23341118;23433505;23461616;23643991;23712400;23733030;23832605;23918043;23999029;24247044;24269186;24276017;24279859;24352713;24382822;24394906;24461776;24508446;24567226;24589356;24613654;24658422;24708359;24713399;24733169;24755993;24767015;24842701;24863266;24885933;24944871;24958631;24993285;25025909;25052186;25132151;25220079","先天性中枢性肺换气不足综合征","AD",209880,5,1,3,4,"BDNF",1,110,"错义",12220,"0.45=52/116","位于基因组单拷贝区域+DNA结构正常",627,"11p13","NM_001143805.1"]
["12308A(99)v28831",29,13,0.45,"12308A","BEST1","chr11:61719387","c.109T>C(E2)","p.37,L>L","rs1800007",0.68,0.91,0.9,0.93,0.9,0.91,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性50型-AD",null,613194,5,2,3,4,"BEST1",1,82,"同义",13203,"0.45=20/44","位于基因组单拷贝区域+DNA结构正常",7439,"11q13","NM_004183.3"]
["12308A(99)v24093",8,4,0.5,"12308A","BIVM-ERCC5","chr13:103528337","m.5129G>A(E23)","非编码区","rs873601",0.55,0.51,0.5,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"BIVM-ERCC5",1,220,"非编码区",14200,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",100533467,"13q","NM_001204425.1"]
["12308A(99)v275",55,55,1,"12308A","BMP3","chr4:81967188","c.613C>T(E2)","p.205,L>F","rs6831040",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"BMP3",1,93,"错义",12220,"1.00=80/80","位于基因组单拷贝区域+DNA结构正常",651,"4q21","NM_001201.2"]
["12308A(99)v27079",18,18,1,"12308A","BOC","chr3:112997554","c.1737A>G(E11)","p.579,K>K","rs775228",0.62,0.67,0.61,0.74,0.71,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"BOC",0.99,61,"同义",13203,"0.97=30/31","位于基因组单拷贝区域+DNA结构正常",91653,"3q13.2","NM_033254.2"]
["12308A(99)v22391",22,22,1,"12308A","BRAT1","chr7:2587122","IVS2-10T>C","剪切位点","rs2164688",0.46,0.38,0.4,0.35,0.39,0.36,"纯合","无关","有rs号，MAF>=5%",null,"新生儿致命性肌僵直和多重病灶型癫痫","AR",614498,5,1,7,1,"BRAT1",0.92,14,"剪切位点",16202,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",221927,"7p22.3","NM_152743.3"]
["12308A(99)v18197",142,141,0.99,"12308A","BRCA2","chr13:32890572","m.202G>A(E2)","非编码区","rs1799943",0.21,0.34,0.36,0.33,0.33,0.38,"纯合","无关","有rs号，MAF>=5%",null,"髓母细胞瘤","AD",155255,5,1,6,8,"BRCA2",1,180,"非编码区",14200,"0.99=248/250","位于基因组单拷贝区域+DNA结构正常",675,"13q12.3","NM_000059.3"]
["12308A(99)v1650",5,5,1,"12308A","BRICD5","chr16:2260567","c.136C>T(E2)","p.46,V>I","rs26857",0.52,0.57,0.6,0.54,0.53,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"BRICD5",1,9.2,"错义",12220,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_182563.3"]
["12308A(99)v4970",35,12,0.34,"12308A","BTBD16","chr10:124096035","c.1290T>C(E15)","p.430,S>S","rs3817281",0.46,0.68,0.7,0.66,0.6,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"BTBD16",1,160,"同义",13203,"0.36=18/50","位于基因组单拷贝区域+DNA结构正常",118663,"10q26.13","NM_144587.2"]
["12308A(99)v6781",335,2,0.01,"12308A","BTN3A3","chr6:26450340-26450340","c.367(E5):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,1,0,"BTN3A3",1,190,"缺失移码",2140,"0.01=2/370","位于基因组多拷贝区域+DNA结构正常",10384,"6p21.3","NM_001242803.1"]
["12308A(99)v24167",9,1,0.11,"12308A","BZRAP1","chr17:56393885","c.1889T>C(E15)","p.630,E>G",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"BZRAP1",0.91,26,"错义",12410,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",9256,"17q22-q23","NM_001261835.1"]
["12308A(99)v26253",42,21,0.5,"12308A","C10orf71","chr10:50531606","c.1016C>A(E3)","p.339,A>E","rs55780106",0.18,0.34,0.39,0.3,0.31,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"C10orf71",0.92,81,"错义",12220,"0.56=35/63","位于基因组单拷贝区域+DNA结构正常",118461,"10q11.23","NM_001135196.1"]
["12308A(99)v22345",164,137,0.84,"12308A","C11orf40","chr11:4592706-4592707","c.601(E4)至c.600(E4):插入AC","插入移码","rs141600462",{"$nulls":4},0.064,0.37,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"C11orf40",1,180,"插入移码",2130,"0.84=156/186","位于基因组单拷贝区域+DNA结构正常",143501,"11p15.5","NM_144663.1"]
["12308A(99)v11362",72,72,1,"12308A","C12orf56","chr12:64712511","c.738A>G(E4)","p.246,N>N","rs7955105",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C12orf56",1,200,"同义",13203,"1.00=102/102","位于基因组单拷贝区域+DNA结构正常",115749,"12q14.2","NM_001170633.1"]
["12308A(99)v23908",11,11,1,"12308A","C12orf73","chr12:104345123","m.551A>G(E3)","非编码区","rs15805",0.46,0.46,0.46,0.47,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C12orf73",1,110,"非编码区",14200,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",728568,"12q23.3","NM_001135570.1"]
["12308A(99)v6544",16,7,0.44,"12308A","C15orf53","chr15:38990769","m.573T>C(E2)","非编码区","rs7172816",0.42,0.43,0.4,0.46,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C15orf53",1,110,"非编码区",14200,"0.38=10/26","位于基因组单拷贝区域+DNA结构正常",400359,"15q14","NM_207444.2"]
["12308A(99)v14747",19,12,0.63,"12308A","C16orf46","chr16:81087488","m.1525G>A(E4)","非编码区","rs12927239",0.21,0.26,0.29,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C16orf46",1,81,"非编码区",14200,"0.65=13/20","位于基因组单拷贝区域+DNA结构正常",123775,"16q23.2","NM_001100873.1"]
["12308A(99)v22648",14,2,0.14,"12308A","C16orf89","chr16:5112485","c.299T>C(E2)","p.100,E>G",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"C16orf89",1,52,"错义",12420,"0.17=5/29","位于基因组单拷贝区域+DNA结构正常",146556,"16p13.3","NM_001098514.2"]
["12308A(99)v14814",75,42,0.56,"12308A","C18orf42","chr18:5145609","c.162G>T(E2)","p.54,H>Q","rs1395063",0.19,0.06,0.057,0.063,0.062,0.074,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C18orf42",1,120,"错义",12220,"0.50=59/119","位于基因组单拷贝区域+DNA结构正常",642597,"18p11.31","NM_001145194.1"]
["12308A(99)v6567",7,4,0.57,"12308A","C19orf12","chr19:30193535","m.670G>A(E3)","非编码区","rs117867574",0.022,0.094,0.11,0.078,null,0.092,"杂合","未知","UTR突变可能影响蛋白翻译",null,"痉挛性截瘫43","AR",615043,3,3,2,2,"C19orf12",1,56,"非编码区",14100,"0.50=8/16","位于基因组单拷贝区域+DNA结构正常",83636,"19q12","NM_001031726.3"]
["12308A(99)v28345",18,7,0.39,"12308A","C1orf111","chr1:162344102","c.522C>T(E3)","p.174,R>R","rs2282397",0.34,0.52,0.5,0.53,0.49,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C1orf111",1,54,"同义",13203,"0.44=14/32","位于基因组单拷贝区域+DNA结构正常",284680,"1q23.3","NM_182581.3"]
["12308A(99)v31307",9,2,0.22,"12308A","C1orf127","chr1:11008497","c.1695G>C(E12)","p.565,G>G","rs1281017",0.32,0.24,0.23,0.25,0.24,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C1orf127",1,48,"同义",13203,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",148345,"1p36.22","NM_001170754.1"]
["12308A(99)v29300",103,102,0.99,"12308A","C1QTNF9","chr13:24895559","c.655A>G(E4)","p.219,M>V","rs3751357",{"$nulls":4},0.71,0.74,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"C1QTNF9",1,150,"错义",12320,"0.99=178/180","位于基因组多拷贝区域+DNA结构正常",338872,"13q12.12","NM_178540.3"]
["12308A(99)v3253",113,113,1,"12308A","C20orf152","chr20:34596371","c.1123C>T(E9)","p.375,P>S","rs6060750",0.31,0.27,0.28,0.25,0.26,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C20orf152",1,150,"错义",12210,"0.99=182/183","位于基因组单拷贝区域+DNA结构正常",140894,"20q11.23","NM_001207076.1"]
["12308A(99)v2864",3,1,0.33,"12308A","C21orf33","chr21:45563201","c.636C>T(E6)","p.212,A>A",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"C21orf33",0.83,39,"同义",13403,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",8209,"21q22.3","NM_004649.6"]
["12308A(99)v23733",82,47,0.57,"12308A","C2orf16","chr2:27801418","c.1979C>A(E1)","p.660,A>E","rs1919126",0.66,0.83,0.8,0.86,0.83,0.85,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C2orf16",1,140,"错义",12220,"0.57=68/120","位于基因组单拷贝区域+DNA结构正常",84226,"2p23.3","NM_032266.3"]
["12308A(99)v1150",15,6,0.4,"12308A","C3orf22","chr3:126268918","c.219G>A(E4)","p.73,L>L","rs869463",0.17,0.25,0.22,0.29,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C3orf22",1,48,"同义",13203,"0.32=8/25","位于基因组单拷贝区域+DNA结构正常",152065,"3q21.3","NM_152533.1"]
["12308A(99)v16049",162,162,1,"12308A","C4orf22","chr4:81884722","c.709G>A(E7)","p.237,V>I","rs1052325",0.81,0.92,0.92,0.92,0.95,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C4orf22",0.93,250,"错义",12220,"1.00=309/309","位于基因组单拷贝区域+DNA结构正常",255119,"4q21.21","NM_001206997.1"]
["12308A(99)v14632",112,111,0.99,"12308A","C4orf47","chr4:186361876","IVS5+3A>G","剪切位点","rs4476640",0.86,1,1,1,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C4orf47",1,280,"剪切位点",16202,"0.99=187/188","位于基因组单拷贝区域+DNA结构正常",441054,"4q35.1","NM_001114357.1"]
["12308A(99)v30674",21,8,0.38,"12308A","C6orf165","chr6:88174102","m.2126C>G(E13)","非编码区","rs7707",0.3,0.31,0.3,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C6orf165",1,260,"非编码区",14200,"0.41=9/22","位于基因组单拷贝区域+DNA结构正常",154313,"6q15","NM_001031743.2"]
["12308A(99)v14134",17,8,0.47,"12308A","C7orf29","chr7:150028098","c.605A>G(E1)","p.202,E>G","rs76490935",0.04,0.12,0.11,0.13,0.096,0.13,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"C7orf29",1,16,"错义",12110,"0.38=10/26","位于基因组单拷贝区域+DNA结构正常",113763,"7q36.1","NM_138434.2"]
["12308A(99)v520",4,4,1,"12308A","C8G","chr9:139840543","c.353A>G(E4)","p.118,D>G","rs7850844",0.97,1,1,1,0.87,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C8G",1,12,"错义",12220,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",733,"9q34.3","NM_000606.2"]
["12308A(99)v3270",108,106,0.98,"12308A","C9orf123","chr9:7798518","m.459G>C(E2)","非编码区","rs4742410",0.91,0.82,0.81,0.84,null,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C9orf123",0.93,75,"非编码区",14200,"0.98=171/174","位于基因组多拷贝区域+DNA结构正常",90871,"9p24.1","NM_033428.1"]
["12308A(99)v22624",7,7,1,"12308A","CA10","chr17:49708688","m.2356T>A(E10)","非编码区","rs1043561",0.48,0.42,0.44,0.39,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CA10",1,210,"非编码区",14200,"0.89=8/9","位于基因组单拷贝区域+DNA结构正常",56934,"17q21.33","NM_001082533.1"]
["12308A(99)v18731",49,49,1,"12308A","CABIN1","chr22:24459438","c.1713T>C(E14)","p.571,C>C","rs762273",0.93,0.89,0.89,0.89,0.91,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CABIN1",0.96,65,"同义",13203,"1.00=80/80","位于基因组单拷贝区域+DNA结构正常",23523,"22q11.23","NM_001199281.1"]
["12308A(99)v28403",5,5,1,"12308A","CACNA1B","chr9:141016262","c.6644T>G(E47)","p.2215,L>R","rs2278973",0.91,0.81,0.81,0.8,0.69,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CACNA1B",0.89,58,"错义",12220,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",774,"9q34","NM_001243812.1"]
["12308A(99)v9240",7,7,1,"12308A","CACNA1H","chr16:1270162","c.6212G>A(E34)","p.2071,R>H","rs1054645",0.7,0.9,0.9,0.89,0.76,0.89,"纯合","无关","有rs号，MAF>=5%",null,"特发性全面性癫痫易感6型/儿童失神性癫痫易感6型",null,611942,5,1,9,1,"CACNA1H",0.85,20,"错义",12220,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",8912,"16p13.3","NM_001005407.1"]
["12308A(99)v23507",124,124,1,"12308A","CACNA2D4","chr12:1995403","c.979T>C(E8)","p.327,I>V","rs10735005",0.94,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"视锥营养不良4型",null,610478,5,1,4,1,"CACNA2D4",0.99,86,"错义",12220,"1.00=231/231","位于基因组单拷贝区域+DNA结构正常",93589,"12p13.33","NM_172364.4"]
["12308A(99)v1458",80,80,1,"12308A","CALCOCO2","chr17:46926615","c.491G>A(E6)","p.164,G>E","rs550510",0.24,0.65,0.64,0.66,0.59,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CALCOCO2",0.91,180,"错义",12210,"0.98=122/124","位于基因组单拷贝区域+DNA结构正常",10241,"17q21.32","NM_001261390.1"]
["12308A(99)v7961",2,1,0.5,"12308A","CAMK2N2","chr3:183979107","m.145G>A(E1)","非编码区","rs200615930",0.0044,0.0048,0.0048,0.0049,null,0.035,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"CAMK2N2",0.92,4,"非编码区",14100,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",94032,"3q27.1","NM_033259.2"]
["12308A(99)v20593",22,22,1,"12308A","CAPN14","chr2:31414807","c.1272C>G(E11)","p.424,L>L","rs1562022",0.91,0.97,0.97,0.97,0.94,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CAPN14",1,120,"同义",13203,"1.00=42/42","位于基因组单拷贝区域+DNA结构正常",440854,"2p23.1-p21","NM_001145122.1"]
["12308A(99)v12831",82,32,0.39,"12308A","CAPN9","chr1:230923313","c.1564C>T(E13)","p.522,R>W","rs12731961",0.2,0.046,0.057,0.034,0.053,0.075,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CAPN9",1,120,"错义",12210,"0.40=60/150","位于基因组单拷贝区域+DNA结构正常",10753,"1q42.11-q42.3","NM_006615.2"]
["12308A(99)v5146",228,228,1,"12308A","CARS2","chr13:111319754","c.852T>C(E8)","p.284,E>E","rs4628819",0.76,0.81,0.83,0.79,0.82,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CARS2",0.98,110,"同义",13203,"1.00=393/394","位于基因组单拷贝区域+DNA结构正常",79587,"13q34","NM_024537.2"]
["12308A(99)v28099",68,68,1,"12308A","CASP10","chr2:202050677","c.177A>G(E2)","p.59,S>S","rs3900115",0.39,0.21,0.23,0.19,0.23,0.22,"纯合","无关","有rs号，MAF>=5%","17071630;18381704;19938081;22568453","家族性非霍奇金氏淋巴瘤，体细胞突变",null,605027,5,1,2,3,"CASP10",1,150,"同义",13203,"1.00=114/114","位于基因组单拷贝区域+DNA结构正常",843,"2q33-q34","NM_001206524.1"]
["12308A(99)v19933",9,5,0.56,"12308A","CASS4","chr20:55012318","c.135G>A(E2)","p.45,V>V","rs911159",0.14,0.15,0.17,0.13,0.13,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"CASS4",1,79,"同义",13203,"0.69=9/13","位于基因组单拷贝区域+DNA结构正常",57091,"20q13.31","NM_001164114.1"]
["12308A(99)v7284",18,10,0.56,"12308A","CATSPER2","chr15:43932171","m.1127A>C(E5)","非编码区","rs74842461",0.18,0.27,0.27,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CATSPER2",1,200,"非编码区",14200,"0.42=10/24","位于基因组多拷贝区域+DNA结构正常",117155,"15q15.3","NM_172097.1"]
["12308A(99)v13038",70,34,0.49,"12308A","CBLB","chr3:105422844","c.1581C>T(E11)","p.527,T>T","rs2305037",0.75,0.76,0.74,0.79,0.74,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CBLB",1,210,"同义",13203,"0.55=66/119","位于基因组单拷贝区域+DNA结构正常",868,"3q13.11","NM_170662.3"]
["12308A(99)v20710",13,1,0.08,"12308A","CCDC102A","chr16:57546738","c.1568C>T(E9)","p.523,R>H",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"CCDC102A",0.79,13,"错义",12420,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",92922,"16q21","NM_033212.3"]
["12308A(99)v22468",54,54,1,"12308A","CCDC111","chr4:185578229","IVS2-7G>T","剪切位点","rs13108061",0.41,0.29,0.3,0.27,null,null,"纯合","无关","有rs号，MAF>=5%",null,"近视22","AD",615420,5,1,2,1,"CCDC111",1,200,"剪切位点",16202,"1.00=76/76","位于基因组单拷贝区域+DNA结构正常",201973,"4q35.1","NM_152683.2"]
["12308A(99)v6878",71,26,0.37,"12308A","CCDC144NL","chr17:20768587","m.927C>A(E4)","非编码区","rs62066972",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,8,0,"CCDC144NL",1,160,"非编码区",14300,"0.39=33/85","位于基因组多拷贝区域+DNA结构正常",339184,"17p11.2","NM_001004306.1"]
["12308A(99)v8397",27,27,1,"12308A","CCDC153","chr11:119065709","IVS2-5G>C","剪切位点","rs10750139",null,0.89,0.9,0.87,0.83,0.88,"纯合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,3,0,"CCDC153",1,75,"剪切位点",16301,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",283152,"11q23.3","NM_001145018.1"]
["12308A(99)v9284",6,5,0.83,"12308A","CCDC169-SOHLH2","chr13:36871940","m.53G>A(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"CCDC169-SOHLH2",1,290,"非编码区",14400,"0.80=8/10","位于基因组单拷贝区域+DNA结构正常",100526761,"13q","NM_001198910.1"]
["12308A(99)v1710",4,4,1,"12308A","CCDC28A","chr6:139114163","m.1203C>T(E6)","非编码区","rs6756",0.29,0.29,0.28,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCDC28A",1,200,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",25901,"6q23.1-q24.1","NM_015439.2"]
["12308A(99)v12364",2,2,1,"12308A","CCDC50","chr3:191112052","m.4014A>T(E11)","非编码区","rs538465",0.76,0.56,0.53,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传耳聋44型",null,607453,5,1,2,1,"CCDC50",1,210,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",152137,"3q28","NM_174908.3"]
["12308A(99)v8500",3,3,1,"12308A","CCDC57","chr17:80159566","c.255T>C(E2)","p.85,E>E","rs8072670",0.82,0.93,0.93,0.92,0.81,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"CCDC57",0.96,58,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",284001,"17q25.3","NM_198082.2"]
["12308A(99)v13828",41,17,0.41,"12308A","CCDC8","chr19:46914921","c.1147G>A(E1)","p.383,H>Y","rs34186470",0.23,0.42,0.42,0.42,0.42,0.41,"杂合","无关","有rs号，MAF>=5%",null,"3-M高椎体骨发育不全综合征3型","AR",614205,5,3,3,1,"CCDC8",1,25,"错义",12220,"0.38=23/60","位于基因组单拷贝区域+DNA结构正常",83987,"19q13.32","NM_032040.4"]
["12308A(99)v31711",57,57,1,"12308A","CCDC9","chr19:47761646","m.196G>C(E2)","非编码区","rs12985905",0.94,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CCDC9",1,31,"非编码区",14200,"1.00=95/95","位于基因组单拷贝区域+DNA结构正常",26093,"19q13.32","NM_015603.2"]
["12308A(99)v18098",64,30,0.47,"12308A","CCDC94","chr19:4251069","c.171T>C(E3)","p.57,N>N","rs1045750",0.48,0.49,0.49,0.48,0.45,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC94",1,54,"同义",13203,"0.44=52/118","位于基因组单拷贝区域+DNA结构正常",55702,"19p13.3","NM_018074.4"]
["12308A(99)v21702",266,69,0.26,"12308A","CCNT2","chr2:135677471-135677472","IVS2+10至IVS2+11:插入GTTT","非编码区","rs67897534",0.42,0.49,0.49,0.48,0.08,0.47,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"CCNT2",1,200,"非编码区",2500,"0.26=80/309","位于基因组单拷贝区域+DNA结构正常",905,"2q21.3","NM_001241.3"]
["12308A(99)v17944",114,60,0.53,"12308A","CD109","chr6:74497152","c.2533G>A(E21)","p.845,V>I","rs5023688",0.37,0.44,0.45,0.44,0.4,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CD109",0.98,270,"错义",12220,"0.52=91/175","位于基因组单拷贝区域+DNA结构正常",135228,"6q13","NM_001159587.1"]
["12308A(99)v1246",32,13,0.41,"12308A","CD177","chr19:43865692","c.1042G>A(E8)","p.348,A>T","rs61625631",{"$nulls":4},0.36,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"CD177",1,62,"错义",12320,"0.42=19/45","位于基因组多拷贝区域+DNA结构正常",57126,"19q13.2","NM_020406.2"]
["12308A(99)v11097",8,8,1,"12308A","CD209","chr19:7807027","m.1772A>G(E5)","非编码区","rs7248637",0.77,0.69,0.73,0.64,null,null,"纯合","无关","有rs号，MAF>=5%",null,"人类免疫缺陷病毒易感1型",null,609423,5,1,5,3,"CD209",1,110,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",30835,"19p13","NM_001144893.1"]
["12308A(99)v20078",49,24,0.49,"12308A","CD4","chr12:6928486","c.1368C>T(E10)","p.456,S>S","rs28919579",null,0.034,0.043,0.024,0.04,0.023,"杂合","未知","预测范围之外的同义突变",null,"OKT4表位不足",null,613949,4,2,6,1,"CD4",1,89,"同义",13303,"0.51=40/79","位于基因组单拷贝区域+DNA结构正常",920,"12p13.31","NM_000616.4"]
["12308A(99)v22914",85,45,0.53,"12308A","CD48","chr1:160654786","c.276G>A(E2)","p.92,G>G","rs1980606",0.23,0.12,0.13,0.1,0.12,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CD48",1,120,"同义",13203,"0.52=77/148","位于基因组单拷贝区域+DNA结构正常",962,"1q21.3-q22","NM_001256030.1"]
["12308A(99)v25885",495,24,0.05,"12308A","CDC27","chr17:45234407-45234420","c.714(E7)至c.701(E7):缺失AGCTGAATCAATAT插入GCTGAATCAGTAG","复杂移码","rs112848754",{"$nulls":4},0.014,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,5,0,"CDC27",1,280,"复杂移码",2130,"0.05=30/621","位于基因组多拷贝区域+DNA结构正常",996,"17q21.32","NM_001114091.1"]
["12308A(99)v13010",108,58,0.54,"12308A","CDC37L1","chr9:4685008","c.264C>T(E2)","p.88,S>S","rs2295967",0.18,0.39,0.39,0.39,0.34,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDC37L1",1,190,"同义",13203,"0.50=89/178","位于基因组单拷贝区域+DNA结构正常",55664,"9p24.1","NM_017913.2"]
["12308A(99)v9905",2,2,1,"12308A","CDCA5","chr11:64851454-64851454","m.162(E1):缺失T","非编码区","rs35819335",0.85,0.9,0.9,0.89,0,0.94,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"CDCA5",1,53,"非编码区",2420,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",113130,"11q12.1","NM_080668.3"]
["12308A(99)v15009",20,20,1,"12308A","CDH23","chr10:73550969","c.6130G>A(E47)","p.2044,E>K","rs10466026",0.33,0.5,0.49,0.51,0.43,0.53,"纯合","无关","有rs号，MAF>=5%","16385451;24767429","尤塞氏综合症ID型","AR",601067,5,1,23,2,"CDH23",1,57,"错义",12220,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",64072,"10q22.1","NM_022124.5"]
["12308A(99)v25794",116,54,0.47,"12308A","CDH3","chr16:68713730","c.720G>A(E7)","p.240,T>T","rs2296409",0.61,0.59,0.59,0.59,0.59,0.61,"杂合","无关","有rs号，MAF>=5%",null,"先天性稀毛症伴青少年黄斑营养不良","AR",601553,5,3,7,2,"CDH3",1,89,"同义",13203,"0.43=85/197","位于基因组单拷贝区域+DNA结构正常",1001,"16q22.1","NM_001793.4"]
["12308A(99)v25795",4,4,1,"12308A","CDH3","chr16:68732457","m.3776G>T(E16)","非编码区","rs1886699",0.81,0.75,0.77,0.74,null,null,"纯合","无关","有rs号，MAF>=5%",null,"EEM综合症","AR",225280,5,1,7,2,"CDH3",1,89,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",1001,"16q22.1","NM_001793.4"]
["12308A(99)v8350",191,97,0.51,"12308A","CDK11A","chr1:1650797","c.325A>G(E4)","p.109,C>R","rs1059830",{"$nulls":4},0.5,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,12,0,"CDK11A",1,130,"错义",12320,"0.47=163/347","位于基因组单拷贝区域+DNA结构正常",728642,"1p36.33","NM_024011.2"]
["12308A(99)v18121",90,90,1,"12308A","CDRT4","chr17:15341183","c.366A>C(E4)","p.122,H>Q","rs2954759",0.32,0.47,0.52,0.43,0.51,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDRT4",1,130,"错义",12220,"1.00=131/131","位于基因组单拷贝区域+DNA结构正常",284040,"17p12","NM_001204477.1"]
["12308A(99)v24889",45,45,1,"12308A","CDSN","chr6:31084163","c.1229A>G(E2)","p.410,L>S","rs3132554",0.65,0.72,0.77,0.67,0.7,0.7,"纯合","无关","有rs号，MAF>=5%",16642438,"脱皮综合征","AR",270300,5,1,12,2,"CDSN",0.82,24,"错义",12220,"1.00=77/77","位于基因组单拷贝区域+DNA结构正常",1041,"6p21.3","NM_001264.4"]
["12308A(99)v8204",176,81,0.46,"12308A","CEACAM6","chr19:42260569","c.126G>A(E2)","p.42,P>P","rs1805223",0.26,0.27,0.27,0.27,0.29,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CEACAM6",1,270,"同义",13203,"0.46=137/296","位于基因组多拷贝区域+DNA结构正常",4680,"19q13.2","NM_002483.4"]
["12308A(99)v2564",48,20,0.42,"12308A","CELA2B","chr1:15808767","c.235G>A(E4)","p.79,G>R","rs3820071",0.33,0.53,0.54,0.53,0.53,0.56,"杂合","无关","有rs号，MAF>=5%",16327289,{"$nulls":3},5,null,4,0,"CELA2B",1,120,"错义",12220,"0.42=33/79","位于基因组多拷贝区域+DNA结构正常",51032,"1p36.21","NM_015849.2"]
["12308A(99)v23894",83,49,0.59,"12308A","CENPF","chr1:214814571","c.2890C>T(E12)","p.964,L>L","rs3795521",0.24,0.096,0.071,0.12,0.084,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CENPF",1,120,"同义",13203,"0.55=78/141","位于基因组单拷贝区域+DNA结构正常",1063,"1q41","NM_016343.3"]
["12308A(99)v12878",73,37,0.51,"12308A","CENPO","chr2:25022598","c.83A>G(E2)","p.28,Q>R","rs1550116",0.13,0.21,0.23,0.19,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CENPO",1,190,"错义",12220,"0.50=59/118","位于基因组单拷贝区域+DNA结构正常",79172,"2p23.3","NM_001199803.1"]
["12308A(99)v16611",149,59,0.4,"12308A","CEP120","chr5:122718736","c.1726G>C(E12)","p.576,L>V","rs6595440",0.41,0.53,0.53,0.52,0.47,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CEP120",1,250,"错义",12220,"0.39=106/274","位于基因组单拷贝区域+DNA结构正常",153241,"5q23.2","NM_001166226.1"]
["12308A(99)v26384",110,110,1,"12308A","CEP55","chr10:95262981","c.295A>G(E3)","p.99,T>A","rs7080916",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CEP55",1,190,"错义",12230,"1.00=173/173","位于基因组单拷贝区域+DNA结构正常",55165,"10q23.33","NM_001127182.1"]
["12308A(99)v15441",5,5,1,"12308A","CERCAM","chr9:131196695","c.1338C>T(E11)","p.446,L>L","rs7258",0.29,0.4,0.44,0.37,0.34,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CERCAM",0.87,38,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",51148,"9q34.11","NM_016174.4"]
["12308A(99)v28317",306,86,0.28,"12308A","CFH","chr1:196712577","IVS19-5T>C","剪切位点","rs513699",{"$nulls":4},0.27,0.35,"杂合","未知","剪切位点预测结果为无害",null,"基底膜板层状玻璃膜疣","AD",126700,4,1,5,4,"CFH",1,300,"剪切位点",16302,"0.25=126/506","位于基因组多拷贝区域+DNA结构正常",3075,"1q32","NM_000186.3"]
["12308A(99)v25193",67,67,1,"12308A","CFHR1","chr1:196801190","m.1168C>A(E6)","非编码区","rs390679",0.42,0.52,0.57,0.47,null,null,"纯合","无关","有rs号，MAF>=5%",null,"非典型溶血性尿毒症综合征，易感1型","AD,AR",235400,5,1,7,2,"CFHR1",1,320,"非编码区",14200,"1.00=109/109","位于基因组多拷贝区域+DNA结构正常",3078,"1q32","NM_002113.2"]
["12308A(99)v22883",205,204,1,"12308A","CFTR","chr7:117235055","c.2562T>G(E15)","p.854,T>T","rs1042077",0.48,0.39,0.39,0.4,0.42,0.43,"纯合","无关","有rs号，MAF>=5%",null,"遗传性胰腺炎","AD",167800,5,1,3,4,"CFTR",1,210,"同义",13203,"0.99=346/348","位于基因组单拷贝区域+DNA结构正常",1080,"7q31.2","NM_000492.3"]
["12308A(99)v3692",5,5,1,"12308A","CHCHD2","chr7:56174140","m.48G>T(E1)","非编码区","rs816407",0.85,0.92,0.93,0.91,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CHCHD2",1,76,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",51142,"7p11.2","NM_016139.2"]
["12308A(99)v25348",6,3,0.5,"12308A","CHDH","chr3:53856653","c.720C>T(E4)","p.240,A>A","rs2241808",0.44,0.62,0.63,0.61,0.48,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CHDH",0.89,35,"同义",13203,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",55349,"3p21.1","NM_018397.4"]
["12308A(99)v29535",3,3,1,"12308A","CHMP4B","chr20:32399200","m.91C>G(E1)","非编码区","rs2626522",0.56,0.9,0.94,0.87,0.63,null,"纯合","无关","有rs号，MAF>=5%",null,"后极性白内障3型",null,605387,5,1,1,1,"CHMP4B",1,110,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",128866,"20q11.22","NM_176812.4"]
["12308A(99)v1074",11,1,0.09,"12308A","CHRNB1","chr17:7350451","c.443G>A(E5)","p.148,R>H",{"$nulls":5},0.00075,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"先天性重症肌无力综合症伴乙酰胆碱受体缺乏","AR",608931,2,3,3,2,"CHRNB1",0.96,100,"错义",12410,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",1140,"17p13.1","NM_000747.2"]
["12308A(99)v15321",96,44,0.46,"12308A","CHSY3","chr5:129521126","c.2291A>G(E3)","p.764,D>G","rs2015018",0.57,0.64,0.65,0.64,0.64,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CHSY3",0.8,85,"错义",12220,"0.52=89/171","位于基因组单拷贝区域+DNA结构正常",337876,"5q23.3","NM_175856.4"]
["12308A(99)v11758",38,38,1,"12308A","CIB4","chr2:26804122","m.696T>G(E7)","非编码区","rs744539",0.62,0.78,0.77,0.79,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CIB4",1,88,"非编码区",14200,"1.00=54/54","位于基因组单拷贝区域+DNA结构正常",130106,"2p23.3","NM_001029881.1"]
["12308A(99)v26308",76,76,1,"12308A","CLCN1","chr7:143017807","c.352G>T(E3)","p.118,G>W","rs10282312",0.99,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性先天性肌强直症","AD",160800,5,1,3,2,"CLCN1",0.99,87,"错义",12230,"1.00=136/136","位于基因组单拷贝区域+DNA结构正常",1180,"7q35","NM_000083.2"]
["12308A(99)v8212",4,4,1,"12308A","CLCNKA","chr1:16360444","m.2432C>T(E20)","非编码区","rs112701437",0.57,0.74,0.78,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",null,"巴特综合征IV型B",null,613090,5,1,7,1,"CLCNKA",1,75,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",1187,"1p36","NM_001042704.1"]
["12308A(99)v7289",77,35,0.45,"12308A","CLDN8","chr21:31587793","c.451A>G(E1)","p.151,S>P","rs686364",0.42,0.44,0.45,0.44,0.41,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CLDN8",1,97,"错义",12220,"0.45=52/115","位于基因组单拷贝区域+DNA结构正常",9073,"21q22.11","NM_199328.2"]
["12308A(99)v24273",92,66,0.72,"12308A","CLEC1B","chr12:10151762-10151763","m.138(E1)至m.137(E1):插入C","非编码区","rs67360658",null,0.76,0.75,0.78,0.11,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"CLEC1B",1,230,"非编码区",2430,"0.71=71/100","位于基因组单拷贝区域+DNA结构正常",51266,"12p13.2","NM_001099431.1"]
["12308A(99)v5",22,12,0.55,"12308A","CLMP","chr11:122944041-122944041","m.1622(E7):缺失C","非编码区","rs59525775",0.048,0.19,0.2,0.18,0.036,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"先天性短肠综合征 ",null,615237,3,2,4,1,"CLMP",1,130,"非编码区",2410,"0.48=12/25","位于基因组单拷贝区域+DNA结构正常",79827,"11q24.1","NM_024769.2"]
["12308A(99)v12636",17,17,1,"12308A","CLPTM1","chr19:45476422","c.264T>C(E3)","p.88,A>A","rs204481",0.9,0.93,0.92,0.95,0.89,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CLPTM1",0.96,53,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",1209,"19q13.3","NM_001294.2"]
["12308A(99)v9099",47,47,1,"12308A","CLTCL1","chr22:19197896","c.3189T>C(E20)","p.1063,A>A","rs698423",0.85,0.94,0.96,0.92,0.91,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CLTCL1",1,110,"同义",13203,"1.00=74/74","位于基因组单拷贝区域+DNA结构正常",8218,"22q11.21","NM_001835.3"]
["12308A(99)v27649",48,24,0.5,"12308A","CNPY2","chr12:56708576","m.812G>A(E3)","非编码区","rs59295315",0.032,0.026,0.024,0.029,null,0.033,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"CNPY2",1,160,"非编码区",14100,"0.50=34/68","位于基因组单拷贝区域+DNA结构正常",10330,"12q15","NM_001190991.1"]
["12308A(99)v23851",128,128,1,"12308A","CNTN6","chr3:1424718","c.2259G>A(E18)","p.753,V>V","rs2291101",0.48,0.62,0.62,0.62,0.6,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CNTN6",1,260,"同义",13203,"1.00=202/202","位于基因组单拷贝区域+DNA结构正常",27255,"3p26-p25","NM_014461.2"]
["12308A(99)v30269",148,147,0.99,"12308A","CNTRL","chr9:123860689","c.647C>T(E5)","p.216,P>L","rs10818504",0.43,0.57,0.53,0.61,0.6,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CNTRL",1,200,"错义",12210,"1.00=252/253","位于基因组单拷贝区域+DNA结构正常",11064,"9q33.2","NM_007018.4"]
["12308A(99)v20245",50,49,0.98,"12308A","COG6","chr13:40325310","m.2154C>T(E19)","非编码区","rs4245396",0.47,0.48,0.45,0.51,null,0.54,"纯合","无关","有rs号，MAF>=5%",null,"先天性糖基化病2L型","AR",614576,5,1,6,2,"COG6",0.99,270,"非编码区",14200,"0.98=62/63","位于基因组单拷贝区域+DNA结构正常",57511,"13q14.11","NM_020751.2"]
["12308A(99)v3477",199,98,0.49,"12308A","COL11A1","chr1:103354428","c.4395A>G(E59)","p.1465,G>G","rs1763347",0.62,0.75,0.75,0.75,0.74,0.73,"杂合","无关","有rs号，MAF>=5%",null,"纤维软骨增生症1型","AR",228520,5,3,6,4,"COL11A1",1,280,"同义",13203,"0.52=164/318","位于基因组单拷贝区域+DNA结构正常",1301,"1p21","NM_001190709.1"]
["12308A(99)v10212",17,17,1,"12308A","COL11A2","chr6:33141161","c.2379A>G(E34)","p.793,D>D","rs2229785",0.88,0.98,0.99,0.96,0.88,0.99,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传耳聋53型",null,609706,5,1,2,6,"COL11A2",0.66,26,"同义",13203,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",1302,"6p21.3","NM_080679.2"]
["12308A(99)v604",27,13,0.48,"12308A","COL18A1","chr21:46908355","c.2460T>C(E17)","p.820,L>L","rs11702425",0.32,0.26,0.25,0.28,0.22,0.24,"杂合","无关","有rs号，MAF>=5%",22450926,"Knobloch综合症1型/视网膜剥离和枕部脑膨出综合征","AR",267750,5,3,8,1,"COL18A1",0.88,16,"同义",13203,"0.50=23/46","位于基因组单拷贝区域+DNA结构正常",80781,"21q22.3","NM_030582.3"]
["12308A(99)v315",22,22,1,"12308A","COL1A1","chr17:48265495","c.3223T>C(E44)","p.1075,T>A","rs1800215",0.98,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%","15113403;15157284;18996919;19152976","骨质疏松症","AD",166710,5,1,5,8,"COL1A1",1,47,"错义",12230,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",1277,"17q21.33","NM_000088.3"]
["12308A(99)v19747",210,108,0.51,"12308A","COL1A2","chr7:94027699","c.87T>C(E3)","p.29,T>T","rs1801182",0.21,0.36,0.38,0.34,0.33,0.48,"杂合","无关","有rs号，MAF>=5%",21602843,"骨质疏松症","AD",166710,5,1,6,6,"COL1A2",1,200,"同义",13203,"0.51=199/391","位于基因组单拷贝区域+DNA结构正常",1278,"7q22.1","NM_000089.3"]
["12308A(99)v13616",172,83,0.48,"12308A","COL25A1","chr4:109745336","c.1848T>G(E33)","p.616,G>G","rs7689008",0.31,0.34,0.37,0.32,0.37,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"COL25A1",0.92,230,"同义",13203,"0.49=151/311","位于基因组单拷贝区域+DNA结构正常",84570,"4q25","NM_001256074.1"]
["12308A(99)v26820",157,72,0.46,"12308A","COL4A1","chr13:110859069","IVS14-7G>C","剪切位点","rs9588116",0.37,0.25,0.24,0.26,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",null,"脑小血管病伴出血/脑小血管病伴Axenfeld-Rieger异常","AD",607595,5,1,10,4,"COL4A1",0.98,150,"剪切位点",16202,"0.47=127/268","位于基因组单拷贝区域+DNA结构正常",1282,"13q34","NM_001845.4"]
["12308A(99)v26824",150,81,0.54,"12308A","COL4A1","chr13:110866265","IVS3+8G>A","非编码区","rs9521650",0.13,0.24,0.26,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",null,"脑出血、中风（易感）",null,614519,5,2,10,4,"COL4A1",0.98,150,"非编码区",16203,"0.54=140/259","位于基因组单拷贝区域+DNA结构正常",1282,"13q34","NM_001845.4"]
["12308A(99)v10112",17,6,0.35,"12308A","COL4A2","chr13:111130519","IVS30+8C>T","非编码区","rs2281974",0.47,0.5,0.46,0.54,0.48,0.51,"杂合","无关","有rs号，MAF>=5%",null,"家族性脑穿通2型","AD",614483,5,1,11,2,"COL4A2",1,95,"非编码区",16203,"0.37=10/27","位于基因组单拷贝区域+DNA结构正常",1284,"13q34","NM_001846.2"]
["12308A(99)v10101",52,52,1,"12308A","COL5A3","chr19:10071063","m.5348T>C(E67)","非编码区","rs10406152",0.83,0.88,0.82,0.93,null,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"COL5A3",0.96,78,"非编码区",14200,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",50509,"19p13.2","NM_015719.3"]
["12308A(99)v23342",16,8,0.5,"12308A","COL6A3","chr2:238280476","c.4184C>T(E9)","p.1395,R>Q","rs80272723",0.018,0.082,0.1,0.058,0.093,0.074,"杂合","较高","有疾病相关报道","15689448;","Bethlem肌病","AD,AR",158810,1,1,7,2,"COL6A3",1,97,"错义",11100,"0.48=10/21","位于基因组单拷贝区域+DNA结构正常",1293,"2q37","NM_004369.3"]
["12308A(99)v27265",4,1,0.25,"12308A","COL8A2","chr1:36564471","c.811G>T(E2)","p.271,P>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"后多形性角膜营养不良2型",null,609140,3,2,2,2,"COL8A2",0.87,7.3,"错义",12420,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",1296,"1p34.2","NM_005202.2"]
["12308A(99)v8366",15,9,0.6,"12308A","COL9A2","chr1:40770456","IVS22+10A>T","非编码区","rs117563156",0.02,0.014,0.019,0.0097,0.014,0.019,"杂合","未知","内含子突变可能影响调控",null,"椎间盘疾病（易感）",null,603932,4,2,4,3,"COL9A2",0.98,47,"非编码区",16103,"0.54=13/24","位于基因组单拷贝区域+DNA结构正常",1298,"1p33-p32","NM_001852.3"]
["12308A(99)v25889",4,1,0.25,"12308A","COPS6","chr7:99686627","c.14C>T(E1)","p.5,A>V",{"$nulls":5},0.0025,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"COPS6",1,130,"错义",12420,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",10980,"7q22.1","NM_006833.4"]
["12308A(99)v16063",165,165,1,"12308A","COX15","chr10:101473218","c.1120A>G(E9)","p.374,F>L","rs2231687",0.83,0.76,0.76,0.77,0.8,0.77,"纯合","无关","有rs号，MAF>=5%",null,"婴儿致死性细胞色素C氧化酶缺乏性心脑肌病2型","AR",615119,5,1,3,2,"COX15",1,170,"错义",12220,"1.00=284/284","位于基因组单拷贝区域+DNA结构正常",1355,"10q24","NM_004376.5"]
["12308A(99)v8383",16,16,1,"12308A","CPLX4","chr18:56963742","m.858C>T(E3)","非编码区","rs4940456",0.46,0.55,0.55,0.55,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CPLX4",1,240,"非编码区",14200,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",339302,"18q21.32","NM_181654.3"]
["12308A(99)v26984",59,27,0.46,"12308A","CPNE1","chr20:34218673","c.1040G>C(E12)","p.347,P>R","rs12481228",0.1,0.067,0.09,0.044,0.071,0.083,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CPNE1",1,110,"错义",12210,"0.46=42/91","位于基因组单拷贝区域+DNA结构正常",8904,"20q11.22","NM_001198863.1"]
["12308A(99)v2311",18,2,0.11,"12308A","CPXM1","chr20:2776960","c.1175A>G(E9)","p.392,L>P",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"CPXM1",1,49,"错义",12410,"0.20=5/25","位于基因组单拷贝区域+DNA结构正常",56265,"20p13","NM_001184699.1"]
["12308A(99)v9888",38,38,1,"12308A","CPZ","chr4:8616096","c.1374T>C(E9)","p.458,D>D","rs1131140",0.62,0.87,0.9,0.84,0.85,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"CPZ",0.88,38,"同义",13203,"1.00=58/58","位于基因组单拷贝区域+DNA结构正常",8532,"4p16.1","NM_001014447.2"]
["12308A(99)v28744",3,3,1,"12308A","CRB2","chr9:126133547","c.2126T>C(E8)","p.709,V>A","rs2488602",1,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CRB2",0.68,8.2,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",286204,"9q33.3","NM_173689.5"]
["12308A(99)v14701",32,11,0.34,"12308A","CRNN","chr1:152382062","m.1570C>T(E3)","非编码区","rs10888486",0.23,0.45,0.42,0.48,null,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CRNN",1,56,"非编码区",14200,"0.35=17/48","位于基因组单拷贝区域+DNA结构正常",49860,"1q21","NM_016190.2"]
["12308A(99)v23570",25,12,0.48,"12308A","CRYBB2","chr22:25627604","c.483G>A(E6)","p.161,G>G","rs8140949",0.33,0.44,0.47,0.42,0.4,0.43,"杂合","无关","有rs号，MAF>=5%",null,"先天性蓝色点状白内障2型",null,601547,5,2,2,1,"CRYBB2",1,69,"同义",13203,"0.40=17/42","位于基因组多拷贝区域+DNA结构正常",1415,"22q11.23","NM_000496.2"]
["12308A(99)v13568",122,51,0.42,"12308A","CSMD1","chr8:2823316","c.9261C>T(E59)","p.3087,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"CSMD1",1,180,"同义",13403,"0.38=71/186","位于基因组单拷贝区域+DNA结构正常",64478,"8p23.2","NM_033225.5"]
["12308A(99)v20010",31,31,1,"12308A","CSNK2A1P","chr11:11373587","c.1080A>G(E1)","p.360,T>T","rs7945066",0.95,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"CSNK2A1P",null,null,"同义",13203,"1.00=41/41","位于基因组多拷贝区域+DNA结构正常",283106,"11p15.3","NM_001256686.1"]
["12308A(99)v20466",7,7,1,"12308A","CSTF3","chr11:33183017","m.21A>G(E1)","非编码区","rs3736213",0.51,0.65,0.63,0.67,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CSTF3",1,290,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",1479,"11p13","NM_001033505.1"]
["12308A(99)v16163",11,8,0.73,"12308A","CTAGE5","chr14:39819734","m.2719T>G(E23)","非编码区","rs8177",0.49,0.63,0.68,0.57,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CTAGE5",1,290,"非编码区",14200,"0.77=10/13","位于基因组多拷贝区域+DNA结构正常",4253,"14q13.3","NM_001247988.1"]
["12308A(99)v13382",109,53,0.49,"12308A","CTH","chr1:70904800","c.1112G>T(E11)","p.371,S>I","rs1021737",0.21,0.22,0.2,0.23,0.19,0.21,"杂合","无关","有rs号，MAF>=5%","18701025;19048631","胱硫醚尿症","AR",219500,5,3,1,1,"CTH",1,240,"错义",12220,"0.45=98/220","位于基因组单拷贝区域+DNA结构正常",1491,"1p31.1","NM_001190463.1"]
["12308A(99)v23537",73,73,1,"12308A","CTSZ","chr20:57572675","c.621A>G(E4)","p.207,Y>Y","rs163785",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CTSZ",0.89,91,"同义",13203,"1.00=129/129","位于基因组单拷贝区域+DNA结构正常",1522,"20q13.32","NM_001336.3"]
["12308A(99)v30858",32,15,0.47,"12308A","CUL9","chr6:43153836","c.894G>A(E4)","p.298,R>R","rs141303988",0.003,0.017,0.019,0.015,0.013,0.01,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"CUL9",1,58,"同义",13103,"0.46=18/39","位于基因组单拷贝区域+DNA结构正常",23113,"6p21.1","NM_015089.2"]
["12308A(99)v19724",2,2,1,"12308A","CWF19L2","chr11:107197256","m.3095C>G(E18)","非编码区","rs1046094",0.26,0.28,0.28,0.28,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CWF19L2",1,240,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",143884,"11q22.3","NM_152434.2"]
["12308A(99)v13335",68,68,1,"12308A","CXorf40A","chrX:148628490","c.459A>T(E5)","p.153,P>P","rs12116111",null,1,1,1,0.97,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"CXorf40A",0.98,100,"同义",13303,"1.00=100/100","位于基因组多拷贝区域+DNA结构正常",91966,"Xq28","NM_001171907.1"]
["12308A(99)v11105",131,65,0.5,"12308A","CYB5R2","chr11:7687715","c.625T>C(E8)","p.209,N>D","rs12801394",0.79,0.79,0.81,0.76,0.76,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CYB5R2",1,160,"错义",12220,"0.49=121/248","位于基因组单拷贝区域+DNA结构正常",51700,"11p15.4","NM_016229.3"]
["12308A(99)v6829",53,24,0.45,"12308A","CYP11B1","chr8:143956693","c.1157G>A(E7)","p.386,A>V","rs4541",{"$nulls":4},0.39,0.4,"杂合","未知","蛋白结构预测结果为容忍或无害","15102677;24658007","糖皮质激素可治疗的醛固酮过多症","AD",103900,3,1,7,2,"CYP11B1",1,43,"错义",12320,"0.44=37/85","位于基因组多拷贝区域+DNA结构正常",1584,"8q21","NM_000497.3"]
["12308A(99)v4917",6,2,0.33,"12308A","CYP2A6","chr19:41349550","m.1657G>C(E9)","非编码区","rs8192733",0.45,0.52,0.56,0.48,null,null,"杂合","无关","有rs号，MAF>=5%",null,"华法林抵抗","AD",122700,5,1,4,3,"CYP2A6",1,130,"非编码区",14200,"0.30=3/10","位于基因组多拷贝区域+DNA结构正常",1548,"19q13.2","NM_000762.5"]
["12308A(99)v23382",91,36,0.4,"12308A","CYP2B6","chr19:41512841","c.516G>T(E4)","p.172,Q>H","rs3745274",0.32,0.16,0.16,0.16,0.15,0.19,"杂合","无关","有rs号，MAF>=5%","18728241;18784455;19076156;19154420;19239339;19371316;19659438;20459744;20723261;21172166;21694616;21715435;21790905;21854194;21860339;21886015;22951632;23080225;23133420;23249875;23524664;23775025;23982262;23996099;24080498;24885815","依法韦仑<非核苷逆转录酶抑制药>代谢不良",null,614546,5,2,2,1,"CYP2B6",1,120,"错义",12220,"0.39=60/153","位于基因组多拷贝区域+DNA结构正常",1555,"19q13.2","NM_000767.4"]
["12308A(99)v7698",25,11,0.44,"12308A","CYP4F11","chr19:16024538","m.1615A>G(E13)","非编码区","rs1060467",0.26,0.26,0.23,0.29,null,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CYP4F11",1,95,"非编码区",14200,"0.39=15/38","位于基因组单拷贝区域+DNA结构正常",57834,"19p13.1","NM_001128932.1"]
["12308A(99)v26035",19,1,0.05,"12308A","CYP4F22","chr19:15651354","c.765C>T(E8)","p.255,Y>Y",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"常染色体隐性遗传先天性鱼鳞病5型/板层性鱼鳞病3型","AR",604777,4,3,1,1,"CYP4F22",0.97,81,"同义",13403,"0.15=4/27","位于基因组单拷贝区域+DNA结构正常",126410,"19p13.12","NM_173483.3"]
["12308A(99)v17333",9,6,0.67,"12308A","DAGLB","chr7:6449496","c.1604T>C(E13)","p.535,Q>R","rs2303361",0.16,0.25,0.24,0.25,0.16,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DAGLB",1,83,"错义",12220,"0.67=8/12","位于基因组单拷贝区域+DNA结构正常",221955,"7p22.1","NM_001142936.1"]
["12308A(99)v22597",31,13,0.42,"12308A","DBC1","chr9:122001000","c.618G>A(E5)","p.206,S>S","rs2274157",0.44,0.7,0.7,0.71,0.61,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DBC1",1,85,"同义",13203,"0.43=20/46","位于基因组单拷贝区域+DNA结构正常",1620,"9q32-q33","NM_014618.2"]
["12308A(99)v2765",6,2,0.33,"12308A","DCAF13","chr8:104427359","c.141A>C(E1)","p.47,R>S","rs3134295",0.43,0.36,0.31,0.41,0.31,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DCAF13",1,220,"错义",12220,"0.27=3/11","位于基因组单拷贝区域+DNA结构正常",25879,"8q22.3","NM_015420.6"]
["12308A(99)v27694",9,9,1,"12308A","DCHS2","chr4:155243811","m.5059T>G(E8)","非编码区","rs1352713",0.87,0.86,0.85,0.86,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"DCHS2",0.98,120,"非编码区",14200,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",54798,"4q31.3","NM_001142552.1"]
["12308A(99)v12261",121,58,0.48,"12308A","DCK","chr4:71888240","c.364C>T(E3)","p.122,P>S","rs67437265",0.033,0.036,0.038,0.034,0.043,0.049,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"DCK",1,210,"错义",12110,"0.46=92/199","位于基因组单拷贝区域+DNA结构正常",1633,"4q13.3-q21.1","NM_000788.2"]
["12308A(99)v30058",23,12,0.52,"12308A","DDRGK1","chr20:3176009","IVS4-10T>C","剪切位点","rs2295552",0.43,0.35,0.33,0.37,null,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DDRGK1",0.99,33,"剪切位点",16202,"0.64=32/50","位于基因组单拷贝区域+DNA结构正常",65992,"20p13","NM_023935.1"]
["12308A(99)v688",2,2,1,"12308A","DDX18","chr2:118589808","m.3620C>T(E14)","非编码区","rs7369",0.89,0.79,0.8,0.79,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DDX18",1,220,"非编码区",14200,"1.00=8/8","位于基因组多拷贝区域+DNA结构正常",8886,"2q14.1","NM_006773.3"]
["12308A(99)v5278",123,123,1,"12308A","DDX52","chr17:35988672","c.792C>T(E6)","p.264,R>R","rs7224513",null,0.54,0.52,0.55,0.55,0.56,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"DDX52",1,260,"同义",13303,"1.00=226/226","位于基因组单拷贝区域+DNA结构正常",11056,"17q21.1","NM_007010.3"]
["12308A(99)v7137",173,173,1,"12308A","DDX60L","chr4:169369820","c.1107T>A(E9)","p.369,I>I","rs2712113",0.82,0.9,0.9,0.91,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"DDX60L",1,280,"同义",13203,"1.00=290/290","位于基因组单拷贝区域+DNA结构正常",91351,"4q32.3","NM_001012967.1"]
["12308A(99)v14450",68,25,0.37,"12308A","DENND3","chr8:142176280","IVS11-9G>A","剪切位点","rs2241735",0.21,0.19,0.2,0.17,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"DENND3",1,87,"剪切位点",16202,"0.38=41/109","位于基因组单拷贝区域+DNA结构正常",22898,"8q24.3","NM_014957.2"]
["12308A(99)v28807",29,12,0.41,"12308A","DES","chr2:220285666","c.1014G>C(E5)","p.338,L>L","rs12920",0.34,0.19,0.21,0.17,0.13,0.19,"杂合","无关","有rs号，MAF>=5%",null,"扩张性心肌病1I型",null,604765,5,2,5,4,"DES",0.97,34,"同义",13203,"0.40=19/47","位于基因组单拷贝区域+DNA结构正常",1674,"2q35","NM_001927.3"]
["12308A(99)v28808",28,12,0.43,"12308A","DES","chr2:220286142","c.1104G>A(E6)","p.368,A>A","rs1058284",0.33,0.19,0.21,0.17,0.16,0.19,"杂合","无关","有rs号，MAF>=5%",null,"Kaeser型肩胛腓骨肌神经病","AD",181400,5,1,5,4,"DES",0.97,34,"同义",13203,"0.43=23/53","位于基因组单拷贝区域+DNA结构正常",1674,"2q35","NM_001927.3"]
["12308A(99)v5339",2,2,1,"12308A","DGKB","chr7:14216156","m.2802A>G(E24)","非编码区","rs71538866",0.12,0.3,0.29,0.32,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DGKB",1,250,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",1607,"7p21.2","NM_145695.2"]
["12308A(99)v29052",70,70,1,"12308A","DHTKD1","chr10:12148259","c.1911A>C(E11)","p.637,P>P","rs1701472",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",null,"恰克-马利-杜斯氏症2Q型，轴索型","AD",615025,4,1,6,2,"DHTKD1",1,150,"同义",13303,"1.00=115/115","位于基因组单拷贝区域+DNA结构正常",55526,"10p14","NM_018706.5"]
["12308A(99)v21579",9,6,0.67,"12308A","DHX37","chr12:125437019","c.2793T>C(E21)","p.931,A>A","rs4429156",0.66,0.84,0.84,0.84,0.76,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"DHX37",0.99,36,"同义",13203,"0.56=9/16","位于基因组单拷贝区域+DNA结构正常",57647,"12q24.31","NM_032656.3"]
["12308A(99)v22040",128,128,1,"12308A","DHX9","chr1:182850727","c.2859T>C(E24)","p.953,T>T","rs6677840",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DHX9",1,190,"同义",13203,"1.00=232/232","位于基因组单拷贝区域+DNA结构正常",1660,"1q25","NM_001357.4"]
["12308A(99)v9076",70,35,0.5,"12308A","DISC1","chr1:232002392","m.2158A>G(E10)","非编码区","rs3082",0.34,0.43,0.44,0.42,null,null,"杂合","无关","有rs号，MAF>=5%",null,"精神分裂症9型",null,604906,5,2,9,2,"DISC1",0.9,85,"非编码区",14200,"0.52=55/106","位于基因组单拷贝区域+DNA结构正常",27185,"1q42.1","NM_001012959.1"]
["12308A(99)v7506",180,78,0.43,"12308A","DLAT","chr11:111916647","c.1351G>A(E10)","p.451,D>N","rs10891314",0.33,0.59,0.58,0.6,0.59,0.58,"杂合","无关","有rs号，MAF>=5%",null,"丙酮酸脱氢酶E2缺陷","AR",245348,5,3,5,1,"DLAT",1,210,"错义",12210,"0.45=151/333","位于基因组单拷贝区域+DNA结构正常",1737,"11q23.1","NM_001931.4"]
["12308A(99)v24255",10,5,0.5,"12308A","DLX2","chr2:172967302","m.177C>T(E1)","非编码区","rs743605",0.32,0.16,0.14,0.17,null,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DLX2",1,22,"非编码区",14200,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",1746,"2q32","NM_004405.3"]
["12308A(99)v30124",489,158,0.32,"12308A","DMBT1","chr10:124353100","c.2516C>T(E21)","p.839,P>L","rs117786926",0.041,0.17,0.19,0.16,0.15,0.15,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,25,0,"DMBT1",1,190,"错义",12120,"0.32=310/978","位于基因组多拷贝区域+DNA结构正常",1755,"10q26.13","NM_007329.2"]
["12308A(99)v6265",83,40,0.48,"12308A","DMKN","chr19:35998362","c.943T>G(E8)","p.315,R>R","rs4254439",0.38,0.46,0.52,0.4,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",20011102,{"$nulls":3},5,null,5,0,"DMKN",0.99,70,"剪切位点",13202,"0.50=69/138","位于基因组单拷贝区域+DNA结构正常",93099,"19q13.12","NM_001126056.2"]
["12308A(99)v25382",167,77,0.46,"12308A","DNA2","chr10:70227964","c.357C>T(E3)","p.119,L>L","rs10998205",0.14,0.16,0.18,0.14,0.17,0.15,"杂合","无关","有rs号，MAF>=5%",null,"进行性外眼肌麻痹6型 ","AD",615156,5,1,3,2,"DNA2",1,240,"同义",13203,"0.46=134/292","位于基因组单拷贝区域+DNA结构正常",1763,"10q21.3-q22.1","NM_001080449.2"]
["12308A(99)v8664",77,37,0.48,"12308A","DNAH12","chr3:57430988","c.4269G>A(E28)","p.1423,Y>Y","rs6768943",0.42,0.38,0.35,0.42,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"DNAH12",1,280,"同义",13203,"0.50=65/130","位于基因组单拷贝区域+DNA结构正常",201625,"3p14.3","NM_178504.4"]
["12308A(99)v16349",18,10,0.56,"12308A","DNAH17","chr17:76528591","c.3087C>T(E20)","p.1029,P>P","rs11868065",0.46,0.4,0.41,0.39,0.4,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,25,0,"DNAH17",1,70,"同义",13203,"0.62=18/29","位于基因组单拷贝区域+DNA结构正常",8632,"17q25.3","NM_173628.3"]
["12308A(99)v5944",84,83,0.99,"12308A","DNAH2","chr17:7681412","c.5265C>G(E33)","p.1755,V>V","rs7359662",0.76,0.84,0.85,0.83,0.82,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"DNAH2",1,94,"同义",13203,"0.99=129/130","位于基因组单拷贝区域+DNA结构正常",146754,"17p13.1","NM_020877.2"]
["12308A(99)v18181",138,57,0.41,"12308A","DNAH7","chr2:196866420","c.1152C>T(E11)","p.384,T>T","rs6434811",0.65,0.65,0.62,0.67,0.65,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"DNAH7",1,240,"同义",13203,"0.41=103/249","位于基因组单拷贝区域+DNA结构正常",56171,"2q32.3","NM_018897.2"]
["12308A(99)v27425",4,4,1,"12308A","DNAI2","chr17:72308319","c.1636G>A(E12)","p.546,A>T","rs1979370",0.74,0.83,0.81,0.85,0.79,0.85,"纯合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍9型（伴或不伴内脏异位）",null,612444,5,1,4,1,"DNAI2",1,84,"错义",12220,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",64446,"17q25","NM_001172810.1"]
["12308A(99)v828",53,53,1,"12308A","DNHD1","chr11:6549995","c.2081A>G(E11)","p.694,N>S","rs7480644",0.73,0.85,0.87,0.83,0.82,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"DNHD1",1,65,"错义",12220,"1.00=81/81","位于基因组单拷贝区域+DNA结构正常",144132,"11p15.4","NM_144666.2"]
["12308A(99)v27209",206,96,0.47,"12308A","DNM1L","chr12:32854366","c.120A>C(E2)","p.40,S>S","rs10844308",0.13,0.079,0.081,0.078,0.066,0.078,"杂合","无关","有rs号，MAF>=5%",null,"由于线粒体过氧化物酶体融合障碍导致的致死性脑病","AD",614388,5,1,6,1,"DNM1L",1,260,"同义",13203,"0.43=157/361","位于基因组单拷贝区域+DNA结构正常",10059,"12p11.21","NM_005690.3"]
["12308A(99)v25769",27,10,0.37,"12308A","DOCK6","chr19:11326125","c.4044C>T(E32)","p.1348,P>P","rs2304154",0.45,0.5,0.5,0.51,0.46,0.51,"杂合","无关","有rs号，MAF>=5%",null,"Adams-Oliver 综合征2型","AR",614219,5,3,8,1,"DOCK6",0.99,41,"同义",13203,"0.35=14/40","位于基因组单拷贝区域+DNA结构正常",57572,"19p13.2","NM_020812.3"]
["12308A(99)v14411",20,20,1,"12308A","DOK3","chr5:176930135","c.904G>A(E6)","p.302,R>C","rs28376231",0.99,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DOK3",0.92,18,"错义",12220,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",79930,"5q35.3","NM_001144875.1"]
["12308A(99)v21147",37,18,0.49,"12308A","DPCR1","chr6:30920957","m.4245G>A(E3)","非编码区","rs2240803",0.28,0.28,0.27,0.29,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DPCR1",1,120,"非编码区",14200,"0.45=24/53","位于基因组单拷贝区域+DNA结构正常",135656,"6p21.33","NM_080870.3"]
["12308A(99)v1802",7,4,0.57,"12308A","DPP6","chr7:154263725","otherT>A","非编码区","rs6959418",0.26,0.19,0.19,0.18,null,null,"杂合","无关","突变在基因上，但不属于任何转录变体",null,"家族性阵发性心室颤动2型",null,612956,5,2,36,1,"DPP6",0.27,130,"非编码区",17000,"0.62=5/8","位于基因组单拷贝区域+DNA结构正常",1804,"7q36.2","NM_001039350.1"]
["12308A(99)v24687",14,5,0.36,"12308A","DRAM2","chr1:111660540","m.1300T>C(E9)","非编码区","rs11002",0.33,0.27,0.24,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DRAM2",1,300,"非编码区",14200,"0.35=7/20","位于基因组单拷贝区域+DNA结构正常",128338,"1p13.3","NM_178454.4"]
["12308A(99)v20779",55,28,0.51,"12308A","DSC2","chr18:28649042","c.2326T>C(E15)","p.776,I>V","rs1893963",0.2,0.091,0.071,0.11,0.078,0.097,"杂合","无关","有rs号，MAF>=5%","17332845;18454203","致心律失常性右室发育不良11","AD,AR",610476,5,1,1,1,"DSC2",0.97,220,"错义",12220,"0.48=39/81","位于基因组多拷贝区域+DNA结构正常",1824,"18q12.1","NM_004949.3"]
["12308A(99)v4276",7,3,0.43,"12308A","DSCAML1","chr11:117309989","c.4317C>T(E23)","p.1439,L>L","rs11216386",0.25,0.58,0.6,0.56,0.56,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"DSCAML1",0.98,40,"同义",13203,"0.50=5/10","位于基因组单拷贝区域+DNA结构正常",57453,"11q23","NM_020693.2"]
["12308A(99)v4132",65,36,0.55,"12308A","DSP","chr6:7580958","c.4535A>G(E23)","p.1512,Y>C","rs2076299",0.2,0.3,0.3,0.31,0.25,0.3,"杂合","无关","有rs号，MAF>=5%",null,"扩张性心肌病，伴羊毛状发，皮肤角化病和牙不发育","AD",615821,5,1,7,6,"DSP",1,120,"错义",12220,"0.56=64/114","位于基因组单拷贝区域+DNA结构正常",1832,"6p24","NM_004415.2"]
["12308A(99)v22087",36,13,0.36,"12308A","DSPP","chr4:88537258","c.3444T>C(E5)","p.1148,S>S",{"$nulls":5},0.35,0.0039,"杂合","未知","预测范围之外的同义突变",null,"牙质形成不全，SHIELDS3型","AD",125500,4,1,30,4,"DSPP",1,150,"同义",13403,"0.33=18/54","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12308A(99)v22095",71,71,1,"12308A","DSPP","chr4:88536362","c.2548G>A(E5)","p.850,G>S","rs111205174",0.53,0.69,0.69,0.69,0.66,0.67,"纯合","无关","有rs号，MAF>=5%",null,"牙质形成不全1型","AD",125490,5,1,30,4,"DSPP",1,150,"错义",12220,"1.00=111/111","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12308A(99)v22102",36,15,0.42,"12308A","DSPP","chr4:88537261","c.3447A>T(E5)","p.1149,E>D","rs200612038",{"$nulls":4},0.4,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"牙质形成不全，SHIELDS3型","AD",125500,3,1,30,4,"DSPP",1,150,"错义",12320,"0.45=25/55","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12308A(99)v14806",78,39,0.5,"12308A","DST","chr6:56327849","c.15124C>T(E82)","p.5042,A>T","rs11758339",0.22,0.21,0.22,0.21,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",null,"遗传性感觉自主神经病6型","AR",614653,5,3,9,2,"DST",1,170,"错义",12220,"0.49=72/148","位于基因组单拷贝区域+DNA结构正常",667,"6p12.1","NM_015548.4"]
["12308A(99)v7116",76,76,1,"12308A","DTHD1","chr4:36292018","c.536T>A(E2)","p.179,V>D","rs1995319",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DTHD1",1,210,"错义",12220,"0.99=133/134","位于基因组单拷贝区域+DNA结构正常",401124,"4p14","NM_001170700.2"]
["12308A(99)v13876",16,7,0.44,"12308A","DUOX1","chr15:45442896","c.2885T>C(E23)","p.962,I>T","rs16939743",0.084,0.13,0.13,0.13,0.09,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"DUOX1",1,80,"错义",12220,"0.38=8/21","位于基因组单拷贝区域+DNA结构正常",53905,"15q15.3","NM_017434.3"]
["12308A(99)v1413",4,4,1,"12308A","DVL1","chr1:1277533","c.366T>C(E4)","p.122,P>P","rs307362",1,1,1,1,0.78,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DVL1",0.87,13,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",1855,"1p36","NM_004421.2"]
["12308A(99)v9086",45,43,0.96,"12308A","DZANK1","chr20:18446024","IVS1-3C>A","剪切位点","rs6111974",0.64,0.71,0.75,0.67,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"DZANK1",1,190,"剪切位点",16202,"0.97=66/68","位于基因组单拷贝区域+DNA结构正常",55184,"20p11.23","NM_001099407.1"]
["12308A(99)v21024",48,48,1,"12308A","EARS2","chr16:23563501","c.264C>T(E2)","p.88,A>A","rs7187920",0.67,0.67,0.67,0.67,0.65,0.69,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷12型","AR",614924,5,1,5,1,"EARS2",0.97,59,"同义",13203,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",124454,"16p12.2","NM_001083614.1"]
["12308A(99)v17536",8,3,0.38,"12308A","ECHDC3","chr10:11805339","c.708C>T(E5)","p.236,I>I","rs17850531",0.2,0.31,0.3,0.32,0.24,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ECHDC3",0.81,69,"同义",13203,"0.36=4/11","位于基因组单拷贝区域+DNA结构正常",79746,"10p14","NM_024693.4"]
["12308A(99)v5181",10,10,1,"12308A","EDNRB","chr13:78470350","m.3548A>G(E8)","非编码区","rs4885491",0.93,0.99,0.99,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Waardenburg综合征4A","AD,AR",277580,5,1,3,3,"EDNRB",0.94,170,"非编码区",14200,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",1910,"13q22","NM_000115.3"]
["12308A(99)v6060",12,12,1,"12308A","EEF2","chr19:3979408","c.1632A>G(E11)","p.544,H>H","rs36526",0.91,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"脊髓小脑性共济失调26型","AD",609306,5,1,4,1,"EEF2",1,34,"同义",13203,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",1938,"19p13.3","NM_001961.3"]
["12308A(99)v3469",78,78,1,"12308A","EFR3A","chr8:133023163","m.2691G>C(E23)","非编码区","rs4736529",0.9,0.93,0.95,0.9,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EFR3A",1,250,"非编码区",14200,"1.00=125/125","位于基因组单拷贝区域+DNA结构正常",23167,"8q24.22","NM_015137.4"]
["12308A(99)v2289",3,3,1,"12308A","EGFR","chr7:55238464","m.2591T>G(E16)","非编码区","rs10277413",0.38,0.48,0.49,0.48,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肺癌","AR",211980,5,1,6,2,"EGFR",0.98,120,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",1956,"7p12","NM_201284.1"]
["12308A(99)v30448",148,61,0.41,"12308A","EIF2A","chr3:150280445","c.290C>G(E4)","p.97,T>S","rs1132979",0.35,0.48,0.5,0.47,0.5,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EIF2A",1,260,"错义",12220,"0.40=101/253","位于基因组单拷贝区域+DNA结构正常",83939,"3q25.1","NM_032025.3"]
["12308A(99)v2048",4,4,1,"12308A","EIF4E","chr4:99850126","m.118A>G(E1)","非编码区","rs11723037",0.61,0.7,0.71,0.69,0.51,0.68,"纯合","无关","有rs号，MAF>=5%",null,"孤独症（易感）19型",null,615091,5,1,3,1,"EIF4E",0.99,230,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",1977,"4q21-q25","NM_001130678.1"]
["12308A(99)v21864",67,42,0.63,"12308A","EIF5AL1","chr10:81272814","c.409G>C(E1)","p.137,V>L","rs200388618",{"$nulls":4},0.28,0.28,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"EIF5AL1",1,140,"错义",12320,"0.62=68/109","位于基因组多拷贝区域+DNA结构正常",143244,"10q22.3","NM_001099692.1"]
["12308A(99)v2235",25,25,1,"12308A","ELP6","chr3:47555142","m.58C>A(E1)","非编码区","rs2291298",0.52,0.69,0.71,0.66,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ELP6",1,100,"非编码区",14200,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",54859,"3p21.31","NM_001031703.2"]
["12308A(99)v11206",40,17,0.42,"12308A","EMILIN2","chr18:2891478","c.1353T>C(E4)","p.451,N>N","rs3810067",0.076,0.18,0.17,0.18,0.16,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"EMILIN2",0.89,70,"同义",13203,"0.43=26/61","位于基因组单拷贝区域+DNA结构正常",84034,"18p11.3","NM_032048.2"]
["12308A(99)v24418",64,64,1,"12308A","ENOSF1","chr18:672792","m.1720C>T(E16)","非编码区","rs1059394",0.5,0.69,0.7,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ENOSF1",0.85,160,"非编码区",14200,"1.00=106/106","位于基因组单拷贝区域+DNA结构正常",55556,"18p11.32","NM_001126123.3"]
["12308A(99)v21395",5,5,1,"12308A","ENTHD2","chr17:79202956","c.1350T>C(E12)","p.450,P>P","rs2048057",0.46,0.71,0.72,0.7,0.57,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ENTHD2",0.96,11,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",146705,"17q25.3","NM_144679.2"]
["12308A(99)v15995",76,43,0.57,"12308A","EPB41L4B","chr9:111936732","m.3100G>A(E26)","非编码区","rs10733569",0.78,0.75,0.72,0.77,null,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EPB41L4B",0.89,180,"非编码区",14200,"0.51=64/126","位于基因组单拷贝区域+DNA结构正常",54566,"9q31-q32","NM_019114.3"]
["12308A(99)v25135",72,72,1,"12308A","EPHA7","chr6:93982124","c.1341A>G(E6)","p.447,S>S","rs345713",0.9,0.82,0.84,0.81,0.77,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"EPHA7",1,220,"同义",13203,"1.00=114/114","位于基因组单拷贝区域+DNA结构正常",2045,"6q16.1","NM_004440.3"]
["12308A(99)v28351",210,94,0.45,"12308A","ERAP1","chr5:96126308","c.1359A>G(E9)","p.453,S>S","rs27529",0.6,0.51,0.51,0.5,0.5,0.48,"杂合","无关","有rs号，MAF>=5%","19692350;21078719",{"$nulls":3},5,null,11,0,"ERAP1",1,200,"同义",13203,"0.46=170/371","位于基因组单拷贝区域+DNA结构正常",51752,"5q15","NM_001040458.1"]
["12308A(99)v2383",36,14,0.39,"12308A","ERBB2","chr17:37864776","c.338G>A(E6)","p.113,R>Q","rs185670819",0.0016,0.0096,0.0095,0.0097,0.014,0.0068,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"肺癌","AR",211980,3,3,2,4,"ERBB2",0.98,60,"错义",12120,"0.35=18/52","位于基因组单拷贝区域+DNA结构正常",2064,"17q12","NM_001005862.1"]
["12308A(99)v22944",139,139,1,"12308A","ERCC6","chr10:50701156","IVS8+7G>A","非编码区","rs4253132",0.88,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"Cockayne综合征B型/小头、纹状体小脑钙化和脑白质营养不良综合征","AR",133540,5,1,6,6,"ERCC6",1,160,"非编码区",16203,"1.00=198/198","位于基因组单拷贝区域+DNA结构正常",2074,"10q11.23","NM_000124.2"]
["12308A(99)v23397",11,11,1,"12308A","ERCC6L","chrX:71424718","m.3996G>A(E2)","非编码区","rs6625979",null,0.55,0.59,0.51,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ERCC6L",1,62,"非编码区",14300,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",54821,"Xq13.1","NM_017669.2"]
["12308A(99)v22615",31,15,0.48,"12308A","ERVFRD-1","chr6:11103888","m.2138T>C(E2)","非编码区","rs9393931",0.23,0.41,0.43,0.39,null,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ERVFRD-1",1,95,"非编码区",14200,"0.47=25/53","位于基因组多拷贝区域+DNA结构正常",405754,"6p24.1","NM_207582.2"]
["12308A(99)v27407",1,1,1,"12308A","ESR2","chr14:64805001","m.268A>G(E1)","非编码区","rs1256120",0.26,0.49,0.53,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ESR2",1,110,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",2100,"14q23.2","NM_001040276.1"]
["12308A(99)v6892",80,80,1,"12308A","ETAA1","chr2:67637196","m.2946G>A(E6)","非编码区","rs1569",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ETAA1",1,160,"非编码区",14200,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",54465,"2p14","NM_019002.3"]
["12308A(99)v12829",97,97,1,"12308A","EVI5","chr1:93160902","c.1006T>C(E7)","p.336,I>V","rs2391199",0.95,0.96,0.96,0.97,0.94,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EVI5",1,260,"错义",12220,"1.00=144/144","位于基因组单拷贝区域+DNA结构正常",7813,"1p22.1","NM_005665.4"]
["12308A(99)v2063",1,1,1,"12308A","EXOC3L4","chr14:103568981","c.921A>C(E2)","p.307,P>P","rs77071436",0.21,0.29,0.31,0.26,0.2,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"EXOC3L4",0.76,11,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",91828,"14q32.32","NM_001077594.1"]
["12308A(99)v4996",116,114,0.98,"12308A","EYA1","chr8:72129009","c.1278G>A(E14)","p.426,G>G","rs4738118",0.29,0.65,0.67,0.63,0.61,0.67,"纯合","无关","有rs号，MAF>=5%",null,"Otofaciocervical综合征","AD",166780,5,1,4,3,"EYA1",1,250,"同义",13203,"0.98=192/196","位于基因组单拷贝区域+DNA结构正常",2138,"8q13.3","NM_000503.4"]
["12308A(99)v30806",118,118,1,"12308A","EYS","chr6:66112409","c.1146A>G(E7)","p.382,N>N","rs974110",0.51,0.47,0.47,0.47,0.44,0.45,"纯合","无关","有rs号，MAF>=5%",17903301,"视网膜色素变性25型-AR",null,602772,5,1,11,1,"EYS",1,210,"同义",13203,"0.99=232/234","位于基因组单拷贝区域+DNA结构正常",346007,"6q12","NM_001142800.1"]
["12308A(99)v11314",100,99,0.99,"12308A","F5","chr1:169510139","c.4189G>A(E13)","p.1397,L>F","rs13306334",0.17,0.64,0.6,0.68,0.65,0.64,"纯合","无关","有rs号，MAF>=5%",null,"布加综合征","AR",600880,5,1,5,5,"F5",1,180,"错义",12220,"0.99=142/143","位于基因组多拷贝区域+DNA结构正常",2153,"1q23","NM_000130.4"]
["12308A(99)v6770",4,2,0.5,"12308A","FAH","chr15:80472561","c.1056C>T(E12)","p.352,S>S","rs1801374",0.06,0.12,0.1,0.14,0.099,0.093,"杂合","无关","有rs号，MAF>=5%",null,"酪氨酸血症1型","AR",276700,5,3,4,1,"FAH",1,110,"同义",13203,"0.33=3/9","位于基因组单拷贝区域+DNA结构正常",2184,"15q25.1","NM_000137.2"]
["12308A(99)v4089",8,8,1,"12308A","FAM115C","chr7:143417083","c.931T>C(E3)","p.311,C>R","rs62486261",{"$nulls":4},0.34,0.58,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"FAM115C",0.84,30,"错义",12310,"1.00=11/11","位于基因组多拷贝区域+DNA结构正常",285966,"7q35","NM_001130025.1"]
["12308A(99)v12717",46,14,0.3,"12308A","FAM135B","chr8:139190943-139190944","IVS9-10至IVS9-11:插入A","非编码区","rs66488273",0.23,0.19,0.18,0.21,0.032,0.22,"杂合","无关","内含子突变",{"$nulls":4},5,null,6,0,"FAM135B",1,150,"非编码区",2500,"0.34=17/50","位于基因组单拷贝区域+简单重复结构",51059,"8q24.23","NM_015912.3"]
["12308A(99)v2139",56,30,0.54,"12308A","FAM153B","chr5:175541155","m.1148G>C(E20)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"FAM153B",1,700,"非编码区",14400,"0.54=37/69","位于基因组多拷贝区域+DNA结构正常",202134,"5q35.2","NM_001265615.1"]
["12308A(99)v3250",4,4,1,"12308A","FAM178B","chr2:97638038","c.164A>G(E3)","p.55,V>A","rs1730120",0.6,0.46,0.42,0.5,0.37,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"FAM178B",0.93,33,"错义",12220,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",51252,"2q11.2","NM_001122646.2"]
["12308A(99)v27186",34,20,0.59,"12308A","FAM181A","chr14:94391699","c.82G>A(E2)","p.28,A>T","rs10141024",0.5,0.65,0.67,0.63,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAM181A",0.94,21,"错义",12220,"0.60=36/60","位于基因组单拷贝区域+DNA结构正常",90050,"14q32.12","NM_138344.4"]
["12308A(99)v7261",202,1,0,"12308A","FAM190A","chr4:91844529-91844529","c.2103(E9):缺失C","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"FAM190A",1,180,"缺失移码",2140,"0.01=3/226","位于基因组单拷贝区域+DNA结构正常",401145,"4q22.1","NM_001145065.1"]
["12308A(99)v2103",18,10,0.56,"12308A","FAM19A5","chr22:49103660","IVS3+4T>C","剪切位点","rs132234",0.69,0.65,0.64,0.66,null,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAM19A5",0.47,15,"剪切位点",16202,"0.47=14/30","位于基因组单拷贝区域+DNA结构正常",25817,"22q13.32","NM_001082967.1"]
["12308A(99)v3150",17,17,1,"12308A","FAM214B","chr9:35107858","c.414C>T(E3)","p.138,S>S","rs7039828",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FAM214B",0.95,65,"同义",13203,"1.00=30/30","位于基因组多拷贝区域+DNA结构正常",80256,"9p13.3","NM_025182.2"]
["12308A(99)v25615",171,171,1,"12308A","FAM228B","chr2:24369674","c.498C>T(E6)","p.166,N>N","rs11693860",0.85,0.9,0.89,0.91,0.85,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FAM228B",1,330,"同义",13203,"1.00=284/285","位于基因组单拷贝区域+DNA结构正常",375190,"2p23.3","NM_001145710.1"]
["12308A(99)v18770",28,17,0.61,"12308A","FAM58BP","chr1:200183460","m.805C>T(E1)","非编码区","rs10919848",0.52,0.66,0.68,0.65,null,0.72,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FAM58BP",1,81,"非编码区",14200,"0.60=32/53","位于基因组多拷贝区域+DNA结构正常",339521,"1q32.1","NM_001105517.1"]
["12308A(99)v15357",19,19,1,"12308A","FAM65C","chr20:49214156","c.1739A>G(E14)","p.580,L>P","rs6020624",0.7,0.69,0.7,0.68,0.67,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAM65C",0.88,33,"错义",12220,"1.00=33/33","位于基因组单拷贝区域+DNA结构正常",140876,"20q13.13","NM_080829.2"]
["12308A(99)v24875",44,21,0.48,"12308A","FAM71F1","chr7:128355458","m.16A>G(E1)","非编码区","rs3807127",0.11,0.24,0.2,0.29,null,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FAM71F1",1,140,"非编码区",14200,"0.53=34/64","位于基因组单拷贝区域+DNA结构正常",84691,"7q32.1","NM_032599.2"]
["12308A(99)v29576",5,2,0.4,"12308A","FAM86B2","chr8:12285250","c.808G>A(E7)","p.270,R>W","rs199873615",0.1,0.24,0.25,0.23,null,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FAM86B2",0.97,78,"错义",12210,"0.50=4/8","位于基因组多拷贝区域+DNA结构正常",653333,"8p23.1","NM_001137610.1"]
["12308A(99)v3912",99,26,0.26,"12308A","FANCD2","chr3:10089723","c.1401G>A(E16)","p.467,T>T","rs12330369",{"$nulls":4},0.29,0.42,"杂合","未知","预测范围之外的同义突变",null,"范可尼贫血,互补D2组","AR",227646,4,3,4,1,"FANCD2",1,220,"同义",13303,"0.28=46/164","位于基因组多拷贝区域+DNA结构正常",2177,"3p26","NM_001018115.1"]
["12308A(99)v19236",105,49,0.47,"12308A","FAT1","chr4:187629140","c.1842G>C(E2)","p.614,F>L","rs367863",0.69,0.49,0.45,0.53,0.48,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,28,0,"FAT1",1,130,"错义",12220,"0.49=89/181","位于基因组单拷贝区域+DNA结构正常",2195,"4q35","NM_005245.3"]
["12308A(99)v19257",126,126,1,"12308A","FAT1","chr4:187538942","c.8798T>G(E10)","p.2933,Q>P","rs1280098",null,0.66,0.68,0.65,0.64,0.64,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,28,0,"FAT1",1,130,"错义",12320,"1.00=215/216","位于基因组单拷贝区域+DNA结构正常",2195,"4q35","NM_005245.3"]
["12308A(99)v615",80,80,1,"12308A","FAXC","chr6:99771540","c.603T>C(E4)","p.201,T>T","rs221527",0.95,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAXC",1,160,"同义",13203,"1.00=125/125","位于基因组单拷贝区域+DNA结构正常",84553,"6q16.2","NM_032511.2"]
["12308A(99)v7979",64,64,1,"12308A","FBLN5","chr14:92347680","c.945A>G(E9)","p.315,I>I","rs2430347",0.78,0.83,0.79,0.87,0.84,0.84,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性皮肤松弛症2型",null,614434,5,1,1,3,"FBLN5",1,130,"同义",13203,"1.00=111/111","位于基因组单拷贝区域+DNA结构正常",10516,"14q32.1","NM_006329.3"]
["12308A(99)v12483",148,148,1,"12308A","FBN2","chr5:127622491","c.6931T>C(E55)","p.2311,M>V","rs32209",0.23,0.62,0.6,0.64,0.62,0.63,"纯合","无关","有rs号，MAF>=5%",null,"远端关节弯曲综合征9型","AD",121050,5,1,5,2,"FBN2",1,220,"错义",12220,"1.00=245/245","位于基因组单拷贝区域+DNA结构正常",2201,"5q23-q31","NM_001999.3"]
["12308A(99)v17612",140,64,0.46,"12308A","FBXL5","chr4:15640168","c.546C>T(E4)","p.182,K>K","rs3182730",0.096,0.019,0.024,0.015,0.015,0.03,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FBXL5",1,200,"同义",13203,"0.43=103/239","位于基因组单拷贝区域+DNA结构正常",26234,"4p15.32","NM_001193534.1"]
["12308A(99)v10449",89,89,1,"12308A","FBXW10","chr17:18647539","m.214G>A(E1)","非编码区","rs62073745",0.63,0.46,0.46,0.47,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FBXW10",1,260,"非编码区",14200,"1.00=125/125","位于基因组多拷贝区域+DNA结构正常",10517,"17p12","NM_001267585.1"]
["12308A(99)v8789",37,37,1,"12308A","FCGBP","chr19:40368498","c.12850A>C(E28)","p.4284,S>A","rs12610683",1,1,1,1,0.99,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,23,0,"FCGBP",0.98,60,"错义",12220,"1.00=55/55","位于基因组多拷贝区域+DNA结构正常",8857,"19q13.1","NM_003890.2"]
["12308A(99)v26515",52,51,0.98,"12308A","FCGR3B","chr1:161594246","m.883G>T(E6)","非编码区","rs61803009",0.9,0.78,0.74,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"FCGR3B",1,100,"非编码区",14200,"0.98=87/89","位于基因组多拷贝区域+DNA结构正常",2215,"1q23","NM_000570.4"]
["12308A(99)v9401",127,63,0.5,"12308A","FDFT1","chr8:11689119","c.972G>C(E7)","p.324,L>L","rs9205",0.31,0.71,0.69,0.73,0.7,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FDFT1",1,170,"同义",13203,"0.46=94/205","位于基因组单拷贝区域+DNA结构正常",2222,"8p23.1-p22","NM_004462.3"]
["12308A(99)v16682",26,15,0.58,"12308A","FERMT3","chr11:63990830","c.1858G>A(E15)","p.620,V>M",{"$nulls":6},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"白细胞黏附分子缺陷III型","AR",612840,3,3,4,1,"FERMT3",1,20,"错义",12420,"0.54=22/41","位于基因组单拷贝区域+DNA结构正常",83706,"11q13.1","NM_031471.5"]
["12308A(99)v6511",73,73,1,"12308A","FGF2","chr4:123814308","m.1692C>T(E3)","非编码区","rs1048201",0.23,0.45,0.48,0.41,0.42,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FGF2",0.58,110,"非编码区",14200,"1.00=124/124","位于基因组单拷贝区域+DNA结构正常",2247,"4q26","NM_002006.4"]
["12308A(99)v13158",9,9,1,"12308A","FGFR2","chr10:123241496","m.2650T>C(E17)","非编码区","rs1649167",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Beare-Stevenson皮肤旋纹综合征","AD",123790,5,1,3,11,"FGFR2",1,170,"非编码区",14200,"1.00=10/10","位于基因组多拷贝区域+DNA结构正常",2263,"10q26","NM_001144913.1"]
["12308A(99)v9753",158,157,0.99,"12308A","FHAD1","chr1:15723843","c.4173G>A(E31)","p.1391,L>L","rs2294490",0.31,0.47,0.45,0.5,0.44,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FHAD1",1,130,"同义",13203,"1.00=288/289","位于基因组单拷贝区域+DNA结构正常",114827,"1p36.21","NM_052929.1"]
["12308A(99)v25720",3,1,0.33,"12308A","FHOD3","chr18:33877713","m.12G>T(E1)","非编码区","rs141472663",0.12,0.15,0.16,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FHOD3",1,130,"非编码区",14200,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",80206,"18q12","NM_025135.2"]
["12308A(99)v31379",152,68,0.45,"12308A","FKBP9","chr7:33016120","IVS4+9G>T","非编码区","rs3750116",0.88,0.85,0.89,0.81,null,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FKBP9",0.93,190,"非编码区",16203,"0.45=113/251","位于基因组多拷贝区域+DNA结构正常",11328,"7p11.1","NM_007270.3"]
["12308A(99)v30973",109,49,0.45,"12308A","FLG","chr1:152280032","c.7330T>C(E3)","p.2444,K>E","rs71625200",0.34,0.6,0.62,0.58,0.56,0.58,"杂合","无关","有rs号，MAF>=5%",null,"寻常性鱼鳞病","AD",146700,5,1,54,2,"FLG",1,180,"错义",12220,"0.43=77/181","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016.1"]
["12308A(99)v30998",131,35,0.27,"12308A","FLG","chr1:152281534","c.5828A>T(E3)","p.1943,L>H","rs113544881",0.31,0.43,0.44,0.42,0.38,null,"杂合","无关","有rs号，MAF>=5%",null,"寻常性鱼鳞病","AD",146700,5,1,54,2,"FLG",1,180,"错义",12220,"0.23=54/232","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016.1"]
["12308A(99)v31009",139,64,0.46,"12308A","FLG","chr1:152285571","c.1791G>A(E3)","p.597,S>S","rs112462459",0.011,0.046,0.052,0.039,0.028,0.04,"杂合","未知","预测范围之外的同义突变",null,"寻常性鱼鳞病","AD",146700,4,1,54,2,"FLG",1,180,"同义",13103,"0.44=97/220","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016.1"]
["12308A(99)v10577",58,23,0.4,"12308A","FLG2","chr1:152323132","c.7130G>T(E3)","p.2377,S>X","rs12568784",0.32,0.5,0.48,0.51,0.44,0.46,"杂合","无关","理论上这种无义突变会导致蛋白翻译提前终止，高频MAF>=5%","21490620;24184149",{"$nulls":3},5,null,8,0,"FLG2",1,200,"截断",15200,"0.39=37/94","位于基因组单拷贝区域+DNA结构正常",388698,"1q21.3","NM_001014342.2"]
["12308A(99)v29063",73,73,1,"12308A","FLNB","chr3:58118555","c.4504G>A(E27)","p.1502,V>M","rs12632456",0.61,0.96,0.98,0.95,0.9,0.97,"纯合","无关","有rs号，MAF>=5%",null,"飞去来器样骨发育不良","AD",112310,5,1,9,5,"FLNB",1,110,"错义",12210,"1.00=114/114","位于基因组单拷贝区域+DNA结构正常",2317,"3p14.3","NM_001164317.1"]
["12308A(99)v12787",17,17,1,"12308A","FLNC","chr7:128487866","c.4404T>C(E25)","p.1468,D>D","rs2249128",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"肌原纤维肌病5型","AD",609524,5,1,10,2,"FLNC",0.99,37,"同义",13203,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",2318,"7q32-q35","NM_001127487.1"]
["12308A(99)v25949",6,5,0.83,"12308A","FLT1","chr13:28963702","m.2485G>A(E13)","非编码区","rs2296283",0.4,0.55,0.54,0.56,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FLT1",0.99,190,"非编码区",14200,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",2321,"13q12","NM_001159920.1"]
["12308A(99)v15555",112,112,1,"12308A","FMNL2","chr2:153378459","c.120T>C(E2)","p.40,N>N","rs4664114",0.69,0.76,0.78,0.75,0.73,0.74,"纯合","无关","有rs号，MAF>=5%",20403199,{"$nulls":3},5,null,4,0,"FMNL2",1,170,"剪切位点",13202,"1.00=193/193","位于基因组单拷贝区域+DNA结构正常",114793,"2q23.3","NM_052905.3"]
["12308A(99)v515",2,2,1,"12308A","FNDC1","chr6:159655326","c.3782T>C(E11)","p.1261,L>P","rs3003174",0.79,0.65,0.61,0.69,0.49,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"FNDC1",0.97,110,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",84624,"6q25","NM_032532.2"]
["12308A(99)v6468",61,26,0.43,"12308A","FOS","chr14:75747258","IVS2-5T>C","剪切位点","rs4645856",0.12,0.19,0.2,0.19,null,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FOS",1,32,"剪切位点",16201,"0.43=40/94","位于基因组单拷贝区域+DNA结构正常",2353,"14q24.3","NM_005252.3"]
["12308A(99)v18140",1,1,1,"12308A","FOXP2","chr7:113777021","otherG>A","非编码区","rs10464645",0.22,0.42,0.43,0.42,null,null,"纯合","无关","突变在基因上，但不属于任何转录变体",null,"言语语言障碍1型","AD",602081,5,1,11,1,"FOXP2",1,220,"非编码区",17000,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",93986,"7q31","NM_001172766.2"]
["12308A(99)v10818",5,1,0.2,"12308A","FOXS1","chr20:30432759","c.587G>A(E1)","p.196,S>F",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"FOXS1",0.99,11,"错义",12420,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",2307,"20q11.21","NM_004118.3"]
["12308A(99)v29459",84,84,1,"12308A","FREM2","chr13:39263714","c.2233T>C(E1)","p.745,S>P","rs2496423",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"Fraser综合征","AR",219000,5,1,6,1,"FREM2",1,130,"错义",12220,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",341640,"13q13.3","NM_207361.4"]
["12308A(99)v21982",1161,748,0.64,"12308A","FRG2C","chr3:75714298","c.278A>G(E3)","p.93,Q>R","rs74714110",{"$nulls":4},0.5,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,25,0,"FRG2C",1,940,"错义",12320,"0.64=1542/2399","位于基因组多拷贝区域+DNA结构正常",100288801,"3p12.3","NM_001124759.1"]
["12308A(99)v22334",8,2,0.25,"12308A","FRMD1","chr6:168479790","m.50C>T(E1)","非编码区","rs11750985",0.84,0.84,0.83,0.85,null,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FRMD1",0.96,22,"非编码区",14200,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",79981,"6q27","NM_024919.3"]
["12308A(99)v18901",128,128,1,"12308A","FSIP2","chr2:186671912","c.18146G>A(E17)","p.6049,R>H","rs1862066",0.54,0.45,0.45,0.46,0.45,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"FSIP2",0.3,40,"错义",12220,"1.00=223/223","位于基因组单拷贝区域+DNA结构正常",401024,"2q32.1","NM_173651.2"]
["12308A(99)v25170",69,35,0.51,"12308A","FTSJD1","chr16:71319539","c.285C>T(E3)","p.95,A>A","rs3826247",0.46,0.25,0.21,0.29,0.29,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FTSJD1",1,120,"同义",13203,"0.51=56/109","位于基因组单拷贝区域+DNA结构正常",55783,"16q22.2","NM_001099642.1"]
["12308A(99)v4377",96,95,0.99,"12308A","FYCO1","chr3:46021218","c.267G>T(E4)","p.89,R>R","rs4682801",0.76,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性白内障2型","AR",610019,5,1,6,1,"FYCO1",0.97,63,"同义",13203,"0.99=149/151","位于基因组单拷贝区域+DNA结构正常",79443,"3p21.31","NM_024513.3"]
["12308A(99)v19435",19,8,0.42,"12308A","G6PC","chr17:41063466","m.1177T>C(E5)","非编码区","rs2229611",0.64,0.48,0.46,0.5,0.37,0.45,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症 Ia型/von Gierke病","AR",232200,5,3,1,1,"G6PC",1,86,"非编码区",14200,"0.37=10/27","位于基因组单拷贝区域+DNA结构正常",2538,"17q21","NM_000151.3"]
["12308A(99)v11538",61,60,0.98,"12308A","GABBR2","chr9:101061639","IVS16-4C>G","剪切位点","rs970388",0.23,0.33,0.34,0.32,0.31,0.35,"纯合","无关","有rs号，MAF>=5%",null,"烟草成瘾易感",null,188890,5,1,4,2,"GABBR2",0.99,130,"剪切位点",16202,"0.98=95/97","位于基因组单拷贝区域+DNA结构正常",9568,"9q22.1-q22.3","NM_005458.7"]
["12308A(99)v4035",1,1,1,"12308A","GAL3ST3","chr11:65809875","m.1681C>A(E3)","非编码区","rs1125078",0.74,0.77,0.75,0.79,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GAL3ST3",0.88,4.8,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",89792,"11q13.1","NM_033036.2"]
["12308A(99)v30244",57,29,0.51,"12308A","GALNTL6","chr4:173734800","c.849C>T(E7)","p.283,F>F",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"GALNTL6",1,180,"同义",13403,"0.54=48/89","位于基因组单拷贝区域+DNA结构正常",442117,"4q34.1","NM_001034845.2"]
["12308A(99)v8065",53,53,1,"12308A","GAPDHS","chr19:36033460","c.609C>T(E6)","p.203,V>V","rs2239945",0.21,0.36,0.36,0.35,0.36,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GAPDHS",1,87,"同义",13203,"1.00=88/88","位于基因组单拷贝区域+DNA结构正常",26330,"19q13.12","NM_014364.4"]
["12308A(99)v7936",5,1,0.2,"12308A","GATA4","chr8:11614600","IVS6+8C>A","非编码区",{"$nulls":7},"杂合","未知","内含子突变可能影响调控",null,"房室间隔缺陷4型","AD",614430,4,1,1,5,"GATA4",0.65,36,"非编码区",16403,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",2626,"8p23.1-p22","NM_002052.3"]
["12308A(99)v30454",30,14,0.47,"12308A","GBP6","chr1:89847444","c.1063A>G(E7)","p.355,M>V","rs4658146",0.81,0.72,0.73,0.7,0.72,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"GBP6",1,190,"错义",12220,"0.48=20/42","位于基因组多拷贝区域+DNA结构正常",163351,"1p22.2","NM_198460.2"]
["12308A(99)v26571",44,44,1,"12308A","GCKR","chr2:27730940","c.1337T>C(E15)","p.446,L>P","rs1260326",0.71,0.45,0.5,0.41,0.44,0.51,"纯合","无关","有rs号，MAF>=5%","18439548;18439552;18454146;18556336;18678614;18853134;19060906;19060910;19073768;19148283;19299407;19474294;19526250;19533084;19651812;19656773;19802338;19847674;19913121;19936222;20081857;20139978;20160193;20339536;20352598;20383146;20570915;20628598;20657596;20661421;20686565;20802025;21071687;21300955;21423719;21647738;21943158;22001757;22105854;22139419;22286219;22517333;22558069;22916037;23022100;23092954;23118302;23263486;23275357;23505323;23586973;23800943;23832694;23903356;24097068;24386095;24535998;24829591;24830394;24918535;24922540;24931982;24932782;24966605;25024592;25176936","空腹血糖水平数量性状位点5",null,613463,5,1,1,1,"GCKR",1,110,"错义",12220,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",2646,"2p23","NM_001486.3"]
["12308A(99)v477",1,1,1,"12308A","GDF10","chr10:48439000","m.139C>T(E1)","非编码区","rs1540253",0.51,0.61,0.58,0.64,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GDF10",0.87,21,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",2662,"10q11.22","NM_004962.3"]
["12308A(99)v18144",110,60,0.55,"12308A","GDPD4","chr11:76979550","c.659T>C(E9)","p.220,K>R","rs2729772",0.21,0.26,0.27,0.26,0.23,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GDPD4",1,200,"错义",12210,"0.54=111/205","位于基因组单拷贝区域+DNA结构正常",220032,"11q13.5","NM_182833.1"]
["12308A(99)v10963",67,34,0.51,"12308A","GGCX","chr2:85780131","c.1218G>A(E9)","p.406,R>R","rs2592551",0.29,0.31,0.32,0.3,0.31,0.33,"杂合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤样障碍伴多凝血因子缺陷",null,610842,5,2,4,2,"GGCX",1,130,"同义",13203,"0.50=51/101","位于基因组单拷贝区域+DNA结构正常",2677,"2p12","NM_000821.5"]
["12308A(99)v1333",27,27,1,"12308A","GGTLC2","chr22:22988811","m.30A>G(E1)","非编码区","rs4820514",0.61,0.76,0.75,0.77,null,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GGTLC2",1,84,"非编码区",14200,"1.00=38/38","位于基因组多拷贝区域+DNA结构正常",91227,"22q11.22","NM_199127.2"]
["12308A(99)v6408",44,24,0.55,"12308A","GIMAP7","chr7:150217309","c.247C>T(E2)","p.83,R>C","rs3735080",0.17,0.16,0.16,0.16,0.14,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"GIMAP7",1,77,"错义",12210,"0.52=34/65","位于基因组单拷贝区域+DNA结构正常",168537,"7q36.1","NM_153236.3"]
["12308A(99)v14559",1,1,1,"12308A","GJB2","chr13:20761888","m.2048C>T(E2)","非编码区","rs7623",0.89,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"遗传性掌跖角皮病伴耳聋","AD",148350,5,1,3,7,"GJB2",1,80,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",2706,"13q11-q12","NM_004004.5"]
["12308A(99)v16728",117,117,1,"12308A","GLG1","chr16:74537591","c.579C>T(E3)","p.193,L>L","rs4887772",0.73,0.83,0.83,0.83,0.79,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GLG1",0.94,150,"同义",13203,"1.00=195/195","位于基因组单拷贝区域+DNA结构正常",2734,"16q22.3","NM_001145666.1"]
["12308A(99)v13606",93,50,0.54,"12308A","GLI3","chr7:42088222","c.547T>C(E5)","p.183,T>A","rs846266",0.6,0.58,0.59,0.56,0.59,0.56,"杂合","无关","有rs号，MAF>=5%","17029207;23028602;23549991","轴后多指畸形A1型",null,174200,5,2,2,5,"GLI3",0.94,69,"错义",12220,"0.51=77/150","位于基因组单拷贝区域+DNA结构正常",2737,"7p13","NM_000168.5"]
["12308A(99)v5894",184,95,0.52,"12308A","GLRA3","chr4:175688141","c.240G>A(E3)","p.80,S>S","rs12651268",0.34,0.5,0.53,0.47,0.47,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GLRA3",1,230,"同义",13203,"0.51=180/350","位于基因组单拷贝区域+DNA结构正常",8001,"4q34.1","NM_001042543.1"]
["12308A(99)v13107",18,1,0.06,"12308A","GMIP","chr19:19745480","c.1920G>T(E18)","p.640,Y>X","rs367883715",{"$nulls":6},"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,3,0,"GMIP",1,39,"截断",15300,"0.12=4/32","位于基因组单拷贝区域+DNA结构正常",51291,"19p13.11","NM_016573.2"]
["12308A(99)v8431",150,148,0.99,"12308A","GNAS","chr20:57478807","c.393C>T(E5)","p.131,I>I","rs7121",0.64,0.68,0.7,0.65,0.63,0.63,"纯合","无关","有rs号，MAF>=5%","15564881;16642433;18454203;18559376;18603647;18769151;18951142;19237173;19379518;19593725;20565774;21737952;22388798;23962387","假性假甲状旁腺功能减退症","AD",612463,5,1,1,8,"GNAS",0.94,48,"同义",13203,"0.99=231/233","位于基因组单拷贝区域+DNA结构正常",2778,"20q13.3","NM_000516.4"]
["12308A(99)v8454",6,1,0.17,"12308A","GOLGA3","chr12:133378405","c.1748G>T(E8)","p.583,A>D",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"GOLGA3",1,41,"错义",12410,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",2802,"12q24.33","NM_001172557.1"]
["12308A(99)v13136",1,1,1,"12308A","GOLGA8A","chr15:34696689","otherC>G","非编码区","rs200955223",{"$nulls":6},"纯合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,9,0,"GOLGA8A",1,140,"非编码区",17000,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",23015,"15q11.2","NM_181077.3"]
["12308A(99)v94",18,6,0.33,"12308A","GP1BA","chr17:4837171","c.1272G>A(E2)","p.424,P>P",{"$nulls":5},0.047,null,"杂合","未知","预测范围之外的同义突变",null,"常染色体显性巨大血小板综合征","AD",153670,4,1,6,4,"GP1BA",1,52,"同义",13403,"0.32=7/22","位于基因组单拷贝区域+DNA结构正常",2811,"17pter-p12","NM_000173.5"]
["12308A(99)v6125",82,82,1,"12308A","GPATCH1","chr19:33605300","c.2171A>G(E15)","p.724,H>R","rs10416265",0.59,0.86,0.88,0.85,0.82,0.85,"纯合","无关","有rs号，MAF>=5%",24430505,{"$nulls":3},5,null,2,0,"GPATCH1",1,160,"错义",12220,"1.00=140/140","位于基因组单拷贝区域+DNA结构正常",55094,"19q13.11","NM_018025.2"]
["12308A(99)v13185",3,3,1,"12308A","GPATCH4","chr1:156564922","m.1259C>T(E8)","非编码区","rs3795733",0.44,0.55,0.54,0.55,null,0.53,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPATCH4",1,130,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",54865,"1q22","NM_015590.3"]
["12308A(99)v21014",58,58,1,"12308A","GPR112","chrX:135428362","c.2497C>T(E6)","p.833,Q>X",{"$nulls":7},"纯合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,4,0,"GPR112",1,99,"截断",15400,"1.00=107/107","位于基因组单拷贝区域+DNA结构正常",139378,"Xq26.3","NM_153834.3"]
["12308A(99)v23365",40,21,0.53,"12308A","GPR125","chr4:22389797","c.3497A>C(E19)","p.1166,V>G","rs3814416",0.034,0.087,0.086,0.087,0.072,0.066,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"GPR125",0.95,180,"错义",12120,"0.48=31/64","位于基因组单拷贝区域+DNA结构正常",166647,"4p15.2","NM_145290.3"]
["12308A(99)v27867",10,10,1,"12308A","GPR162","chr12:6933787","c.723A>G(E2)","p.241,V>V","rs1051409",null,0.59,0.61,0.58,0.49,0.55,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"GPR162",1,29,"同义",13303,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",27239,"12p13","NM_019858.1"]
["12308A(99)v18258",5,5,1,"12308A","GPR20","chr8:142367559","c.465G>A(E2)","p.155,P>P","rs11785629",0.6,0.53,0.5,0.57,0.49,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GPR20",0.96,7.2,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",2843,"8q24.3","NM_005293.2"]
["12308A(99)v47",91,91,1,"12308A","GPR98","chr5:89988504","c.7034A>G(E32)","p.2345,N>S","rs2366926",0.32,0.41,0.4,0.42,0.43,0.41,"纯合","无关","有rs号，MAF>=5%",null,"家族性热性惊厥4型","AD",604352,5,1,17,2,"GPR98",1,200,"错义",12210,"1.00=146/146","位于基因组单拷贝区域+DNA结构正常",84059,"5q13","NM_032119.3"]
["12308A(99)v24738",3,3,1,"12308A","GPRC5C","chr17:72428167","m.501C>T(E1)","非编码区","rs141488344",0.0056,0.026,0.043,0.0097,null,0.035,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"GPRC5C",1,34,"非编码区",14100,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",55890,"17q25","NM_022036.2"]
["12308A(99)v31669",27,18,0.67,"12308A","GRAMD3","chr5:125695874","m.87C>G(E1)","非编码区","rs77944663",0.14,0.26,0.22,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GRAMD3",1,200,"非编码区",14200,"0.69=25/36","位于基因组单拷贝区域+DNA结构正常",65983,"5q23.2","NM_001146319.1"]
["12308A(99)v5454",108,64,0.59,"12308A","GRHL3","chr1:24658063","c.27C>G(E2)","p.9,D>E","rs2486668",0.18,0.19,0.16,0.22,0.22,0.19,"杂合","无关","有rs号，MAF>=5%",null,"VanDerWoude综合征2型","AD",606713,5,1,3,1,"GRHL3",0.91,96,"错义",12210,"0.57=114/201","位于基因组单拷贝区域+DNA结构正常",57822,"1p36.11","NM_001195010.1"]
["12308A(99)v20784",88,42,0.48,"12308A","GRIK4","chr11:120745874","c.1086C>T(E9)","p.362,H>H","rs2230297",0.23,0.46,0.47,0.44,0.48,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GRIK4",0.88,78,"同义",13203,"0.48=62/129","位于基因组单拷贝区域+DNA结构正常",2900,"11q22.3","NM_014619.2"]
["12308A(99)v7339",14,1,0.07,"12308A","GRM4","chr6:34003744","c.2143A>G(E9)","p.715,C>R",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"GRM4",0.83,23,"错义",12410,"0.17=4/23","位于基因组单拷贝区域+DNA结构正常",2914,"6p21.3","NM_000841.2"]
["12308A(99)v9173",6,2,0.33,"12308A","GRWD1","chr19:48949286","c.24G>T(E1)","p.8,R>R","rs1643487",0.72,0.64,0.67,0.61,0.54,0.65,"杂合","无关","有rs号，MAF>=5%",16251468,{"$nulls":3},5,null,2,0,"GRWD1",1,30,"同义",13203,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",83743,"19q13.33","NM_031485.3"]
["12308A(99)v5434",152,50,0.33,"12308A","GSTT2","chr22:24323131","IVS1-8C>T","剪切位点","rs35389228",0.15,0.37,0.38,0.36,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GSTT2",1,150,"剪切位点",16202,"0.36=97/271","位于基因组多拷贝区域+DNA结构正常",2953,"22q11.23","NM_000854.3"]
["12308A(99)v24519",18,9,0.5,"12308A","GUCA1B","chr6:42162575","m.120A>G(E1)","非编码区","rs1474867",0.88,0.92,0.93,0.91,0.92,0.92,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性48型-AD",null,613827,5,2,2,1,"GUCA1B",1,50,"非编码区",14200,"0.48=12/25","位于基因组单拷贝区域+DNA结构正常",2979,"6p21.1","NM_002098.5"]
["12308A(99)v30093",85,85,1,"12308A","GZMA","chr5:54403957","c.362T>C(E4)","p.121,M>T","rs3104233",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GZMA",1,230,"错义",12230,"0.98=118/121","位于基因组单拷贝区域+DNA结构正常",3001,"5q11-q12","NM_006144.3"]
["12308A(99)v26774",6,4,0.67,"12308A","H2AFV","chr7:44873800","m.842T>C(E5)","非编码区","rs12673630",0.19,0.3,0.29,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"H2AFV",0.99,220,"非编码区",14200,"0.67=4/6","位于基因组单拷贝区域+DNA结构正常",94239,"7p13","NM_012412.4"]
["12308A(99)v11841",1,1,1,"12308A","HAP1","chr17:39890876","c.11T>C(E1)","p.4,K>R","rs4796604",0.55,0.72,0.73,0.7,0.5,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HAP1",1,51,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",9001,"17q21.2-q21.3","NM_001079870.1"]
["12308A(99)v2843",29,12,0.41,"12308A","HBB","chr11:5246699","m.623A>T(E3)","非编码区","rs528009939",0.0006,0.0048,0.0095,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"β地中海贫血",null,613985,3,2,1,6,"HBB",1,150,"非编码区",14100,"0.42=13/31","位于基因组单拷贝区域+DNA结构正常",3043,"11p15.5","NM_000518.4"]
["12308A(99)v28525",1,1,1,"12308A","HDAC9","chr7:19036072","m.3738A>G(E26)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"HDAC9",0.98,170,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",9734,"7p21.1","NM_178423.1"]
["12308A(99)v26639",9,1,0.11,"12308A","HDGFRP2","chr19:4497964","c.1338G>T(E11)","p.446,K>N",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"HDGFRP2",0.8,33,"错义",12410,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",84717,"19p13.3","NM_001001520.1"]
["12308A(99)v16856",48,22,0.46,"12308A","HEATR5B","chr2:37292890","IVS9+8T>G","非编码区","rs11903252",0.28,0.36,0.43,0.29,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"HEATR5B",1,230,"非编码区",16203,"0.43=27/63","位于基因组单拷贝区域+DNA结构正常",54497,"2p22.2","NM_019024.1"]
["12308A(99)v28554",149,149,1,"12308A","HECTD4","chr12:112703732","c.2016A>C(E15)","p.672,A>A","rs2301757",0.17,0.58,0.61,0.55,0.61,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HECTD4",0.94,110,"同义",13203,"1.00=298/298","位于基因组单拷贝区域+DNA结构正常",283450,"12q24.13","NM_001109662.3"]
["12308A(99)v13743",42,20,0.48,"12308A","HEG1","chr3:124738107","c.1587C>T(E5)","p.529,S>S","rs59232004",0.49,0.48,0.44,0.51,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"HEG1",0.92,120,"剪切位点",13202,"0.47=32/68","位于基因组单拷贝区域+DNA结构正常",57493,"3q21.2","NM_020733.1"]
["12308A(99)v8305",108,108,1,"12308A","HERC2","chr15:28414665","c.10194T>C(E66)","p.3398,S>S","rs7494786",0.88,0.99,1,0.98,0.96,0.99,"纯合","无关","有rs号，MAF>=5%",null,"皮肤/头发/眼睛色素沉着1型","AR",227220,5,1,8,2,"HERC2",0.98,150,"同义",13203,"1.00=191/191","位于基因组多拷贝区域+DNA结构正常",8924,"15q13","NM_004667.5"]
["12308A(99)v8312",41,18,0.44,"12308A","HERC2","chr15:28517436","c.1008T>C(E9)","p.336,P>P","rs75181529",{"$nulls":4},0.44,0.5,"杂合","未知","预测范围之外的同义突变",null,"精神（智力）发育迟滞38型","AR",615516,4,3,8,2,"HERC2",0.98,150,"同义",13303,"0.42=28/67","位于基因组多拷贝区域+DNA结构正常",8924,"15q13","NM_004667.5"]
["12308A(99)v8702",178,178,1,"12308A","HHLA2","chr3:108072425","c.216C>T(E4)","p.72,H>H","rs2124741",0.15,0.5,0.45,0.55,0.46,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HHLA2",1,230,"同义",13203,"1.00=329/329","位于基因组单拷贝区域+DNA结构正常",11148,"3q13.13","NM_007072.2"]
["12308A(99)v18162",114,114,1,"12308A","HIGD1C","chr12:51354803","c.147C>T(E2)","p.49,Y>Y","rs12306808",0.26,0.47,0.48,0.47,0.5,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HIGD1C",1,290,"同义",13203,"1.00=212/212","位于基因组单拷贝区域+DNA结构正常",613227,"12q13.12","NM_001109619.1"]
["12308A(99)v7395",6,2,0.33,"12308A","HIST2H2BF","chr1:149783169","m.760G>T(E1)","非编码区","rs183937491",0.0044,0.019,0.019,0.019,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"HIST2H2BF",1,180,"非编码区",14100,"0.38=3/8","位于基因组多拷贝区域+DNA结构正常",440689,"1q21.2","NM_001024599.3"]
["12308A(99)v31236",1,1,1,"12308A","HIVEP3","chr1:41978566","c.6326T>G(E7)","p.2109,D>A","rs2991344",{"$nulls":4},0.79,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,15,0,"HIVEP3",0.99,43,"错义",12320,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",59269,"1p34","NM_001127714.2"]
["12308A(99)v11082",81,36,0.44,"12308A","HKR1","chr19:37853366","c.669G>C(E6)","p.223,R>R","rs34809375",0.021,0.065,0.062,0.068,0.048,0.061,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"HKR1",1,130,"同义",13103,"0.46=57/123","位于基因组单拷贝区域+DNA结构正常",284459,"19q13.12","NM_181786.2"]
["12308A(99)v23223",35,28,0.8,"12308A","HLA-B","chr6:31323233","c.756A>G(E4)","p.252,T>T","rs709052",0.47,0.42,0.41,0.43,0.38,0.41,"杂合","无关","有rs号，MAF>=5%",null,"严重皮肤副反应易感",null,608579,5,2,14,2,"HLA-B",0.89,33,"同义",13203,"0.82=49/60","位于基因组多拷贝区域+DNA结构正常",3106,"6p21.3","NM_005514.6"]
["12308A(99)v3512",11,7,0.64,"12308A","HLA-C","chr6:31239376","c.343C>T(E2)","p.115,G>R","rs1131122",0.036,0.062,0.071,0.053,0.09,0.065,"杂合","可能相关","蛋白结构预测结果为有害",null,"银屑病易感1型",null,177900,2,2,12,2,"HLA-C",0.93,28,"错义",12110,"0.60=9/15","位于基因组多拷贝区域+DNA结构正常",3107,"6p21.3","NM_002117.5"]
["12308A(99)v28481",69,68,0.99,"12308A","HLA-DQB1","chr6:32629904","c.501A>G(E3)","p.167,D>D","rs1049086",0.63,0.73,0.74,0.71,0.66,0.73,"纯合","无关","有rs号，MAF>=5%",null,"多发性硬化症（易感）",null,126200,5,1,18,3,"HLA-DQB1",0.97,60,"同义",13203,"0.98=101/103","位于基因组多拷贝区域+DNA结构正常",3119,"6p21.3","NM_001243961.1"]
["12308A(99)v7186",81,81,1,"12308A","HLA-DRB1","chr6:32557435","c.85A>C(E1)","p.29,S>A","rs9270299",0.85,0.87,0.86,0.87,0.67,0.85,"纯合","无关","有rs号，MAF>=5%",null,"多发性硬化症（易感）",null,126200,5,1,20,3,"HLA-DRB1",1,100,"错义",12220,"1.00=141/141","位于基因组多拷贝区域+DNA结构正常",3123,"6p21.3","NM_002124.3"]
["12308A(99)v7197",60,27,0.45,"12308A","HLA-DRB1","chr6:32557552","m.62A>G(E1)","非编码区","rs1059546",0.29,0.34,0.31,0.37,0.18,0.2,"杂合","无关","有rs号，MAF>=5%",null,"风湿性关节炎（易感）",null,180300,5,2,20,3,"HLA-DRB1",1,100,"非编码区",14200,"0.45=45/100","位于基因组多拷贝区域+DNA结构正常",3123,"6p21.3","NM_002124.3"]
["12308A(99)v7202",95,95,1,"12308A","HLA-DRB1","chr6:32557483","c.37T>C(E1)","p.13,T>A","rs9270303",0.78,0.82,0.81,0.83,0.72,0.83,"纯合","无关","有rs号，MAF>=5%",null,"风湿性关节炎（易感）",null,180300,5,1,20,3,"HLA-DRB1",1,100,"错义",12220,"1.00=182/182","位于基因组多拷贝区域+DNA结构正常",3123,"6p21.3","NM_002124.3"]
["12308A(99)v8680",58,58,1,"12308A","HMGN4","chr6:26545632","c.198G>A(E2)","p.66,G>G","rs4871",0.57,0.74,0.76,0.72,0.68,0.75,"纯合","无关","有rs号，MAF>=5%",18389087,{"$nulls":3},5,null,1,0,"HMGN4",1,82,"同义",13203,"0.99=94/95","位于基因组多拷贝区域+DNA结构正常",10473,"6p21.3","NM_006353.2"]
["12308A(99)v26905",33,33,1,"12308A","HNF1B","chr17:36047275","m.1995C>T(E9)","非编码区","rs1800929",0.78,0.82,0.81,0.83,null,0.84,"纯合","无关","有rs号，MAF>=5%",null,"年轻起病成人型糖尿病5型/肾囊肿和糖尿病综合征","AD",137920,5,1,3,3,"HNF1B",0.99,82,"非编码区",14200,"0.98=45/46","位于基因组单拷贝区域+DNA结构正常",6928,"17q12","NM_000458.2"]
["12308A(99)v7755",37,23,0.62,"12308A","HOXB2","chr17:46620402","m.1219G>A(E2)","非编码区","rs2229302",0.12,0.087,0.076,0.097,null,0.08,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"HOXB2",1,24,"非编码区",14200,"0.61=30/49","位于基因组单拷贝区域+DNA结构正常",3212,"17q21.32","NM_002145.3"]
["12308A(99)v30243",5,5,1,"12308A","HPCAL1","chr2:10567082","m.875A>G(E5)","非编码区","rs1042953",0.67,0.68,0.66,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HPCAL1",1,50,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",3241,"2p25.1","NM_001258357.1"]
["12308A(99)v24100",73,35,0.48,"12308A","HRG","chr3:186395436","c.1342C>T(E7)","p.448,R>C","rs1042445",0.27,0.28,0.27,0.29,0.28,0.31,"杂合","无关","有rs号，MAF>=5%",16251468,"富组氨酸糖蛋白缺乏性易栓症",null,613116,5,2,5,1,"HRG",1,180,"错义",12220,"0.46=50/108","位于基因组单拷贝区域+DNA结构正常",3273,"3q27","NM_000412.2"]
["12308A(99)v10004",103,34,0.33,"12308A","HRNR","chr1:152192163","c.1942G>T(E3)","p.648,R>S","rs61814943",{"$nulls":4},0.14,0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,37,0,"HRNR",1,250,"错义",12320,"0.32=63/199","位于基因组多拷贝区域+DNA结构正常",388697,"1q21.3","NM_001009931.1"]
["12308A(99)v10030",97,48,0.49,"12308A","HRNR","chr1:152193291","c.814G>T(E3)","p.272,R>R","rs6587652",0.56,0.39,0.37,0.41,0.47,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,37,0,"HRNR",1,250,"同义",13203,"0.49=77/158","位于基因组多拷贝区域+DNA结构正常",388697,"1q21.3","NM_001009931.1"]
["12308A(99)v14666",272,2,0.01,"12308A","HSP90B1","chr12:104332202-104332204","c.940(E7)至c.942(E7):缺失GAA","缺失非移码","rs546630977",{"$nulls":4},0,1.9E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"HSP90B1",1,210,"缺失非移码",2232,"0.01=2/341","位于基因组单拷贝区域+简单重复结构",7184,"12q24.2-q24.3","NM_003299.2"]
["12308A(99)v21301",12,4,0.33,"12308A","HSPA6","chr1:161495040","c.592C>T(E1)","p.198,L>F","rs63749092",0.12,0.25,0.26,0.24,0.18,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"HSPA6",1,31,"错义",12210,"0.37=7/19","位于基因组多拷贝区域+DNA结构正常",3310,"1q23","NM_002155.3"]
["12308A(99)v26769",22,8,0.36,"12308A","HTR1D","chr1:23520740","m.483C>G(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"HTR1D",1,100,"非编码区",14400,"0.30=9/30","位于基因组单拷贝区域+DNA结构正常",3352,"1p36.3-p34.3","NM_000864.4"]
["12308A(99)v9631",9,9,1,"12308A","HTR5A","chr7:154876385","m.1838A>T(E2)","非编码区","rs980443",0.78,0.85,0.84,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HTR5A",1,63,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",3361,"7q36.1","NM_024012.3"]
["12308A(99)v29329",116,61,0.53,"12308A","HYDIN","chr16:70934974","c.8981T>C(E53)","p.2994,E>G","rs12102425",{"$nulls":4},0.1,0.095,"杂合","可能相关","蛋白结构预测结果为有害",null,"原发性纤毛运动障碍5型","AR",608647,2,3,62,1,"HYDIN",1,320,"错义",12310,"0.50=86/171","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974.1"]
["12308A(99)v29344",58,24,0.41,"12308A","HYDIN","chr16:70954572","c.7707T>A(E46)","p.2569,L>L","rs8045289",{"$nulls":4},0.47,null,"杂合","未知","预测范围之外的同义突变",null,"原发性纤毛运动障碍5型","AR",608647,4,3,62,1,"HYDIN",1,320,"同义",13303,"0.44=43/97","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974.1"]
["12308A(99)v18331",23,9,0.39,"12308A","IAPP","chr12:21531437","m.499C>T(E3)","非编码区","rs5484",0.14,0.046,0.029,0.063,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"IAPP",1,270,"非编码区",14200,"0.42=10/24","位于基因组单拷贝区域+DNA结构正常",3375,"12p12.1","NM_000415.2"]
["12308A(99)v22337",23,14,0.61,"12308A","ICAM4","chr19:10398901","m.906A>G(E3)","非编码区","rs3745267",0.015,0.024,0.033,0.015,null,0.052,"杂合","未知","UTR突变可能影响蛋白翻译",null,"血型 系统, LANDSTEINER-WIENER;  LW",null,111250,3,2,1,1,"ICAM4",0.9,25,"非编码区",14100,"0.61=20/33","位于基因组多拷贝区域+DNA结构正常",3386,"19p13.2-cen","NM_001039132.2"]
["12308A(99)v30228",98,48,0.49,"12308A","IFIT5","chr10:91178000","c.1044C>T(E2)","p.348,Y>Y","rs304448",0.65,0.9,0.9,0.89,0.87,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"IFIT5",1,160,"同义",13203,"0.48=73/151","位于基因组单拷贝区域+DNA结构正常",24138,"10q23.31","NM_012420.2"]
["12308A(99)v30027",161,86,0.53,"12308A","IFNA17","chr9:21228040","c.133C>G(E1)","p.45,G>R","rs12552812",0.29,0.49,0.48,0.5,0.5,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"IFNA17",1,310,"错义",12220,"0.56=142/255","位于基因组多拷贝区域+DNA结构正常",3451,"9p22","NM_021268.2"]
["12308A(99)v7076",15,5,0.33,"12308A","IFNGR1","chr6:137519780","IVS6-4T>C","剪切位点","rs3799488",0.12,0.24,0.27,0.21,0.27,0.26,"杂合","无关","有rs号，MAF>=5%",null,"免疫缺陷27B",null,615978,5,2,3,5,"IFNGR1",1,180,"剪切位点",16202,"0.39=7/18","位于基因组单拷贝区域+DNA结构正常",3459,"6q23.3","NM_000416.2"]
["12308A(99)v24084",87,44,0.51,"12308A","IGF2BP3","chr7:23357321","c.1332C>T(E12)","p.444,A>A","rs156414",0.24,0.34,0.36,0.33,0.32,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"IGF2BP3",1,200,"同义",13203,"0.51=75/148","位于基因组单拷贝区域+DNA结构正常",10643,"7p11","NM_006547.2"]
["12308A(99)v9567",187,126,0.67,"12308A","IGFN1","chr1:201178926","c.4905G>A(E12)","p.1635,K>K","rs6702960",0.44,0.45,0.45,0.46,0.5,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,35,0,"IGFN1",1,100,"同义",13203,"0.64=202/318","位于基因组多拷贝区域+DNA结构正常",91156,"1q32.1","NM_001164586.1"]
["12308A(99)v18094",30,19,0.63,"12308A","IGHMBP2","chr11:68705674","c.2636C>A(E14)","p.879,T>K","rs17612126",0.2,0.26,0.21,0.32,0.25,0.25,"杂合","无关","有疾病相关报道，MAF>=5%","15797190;","远端脊髓肌萎缩症1型","AR",604320,5,3,4,2,"IGHMBP2",0.97,54,"错义",11200,"0.66=29/44","位于基因组单拷贝区域+DNA结构正常",3508,"11q13.3","NM_002180.2"]
["12308A(99)v16135",50,14,0.28,"12308A","IGSF3","chr1:117156418","c.801G>A(E4)","p.267,S>S","rs111880595",{"$nulls":4},0.16,0,"杂合","未知","预测范围之外的同义突变",null,"泪管缺陷","AR",149700,4,3,16,1,"IGSF3",1,70,"同义",13303,"0.27=23/86","位于基因组多拷贝区域+DNA结构正常",3321,"1p13","NM_001007237.1"]
["12308A(99)v25609",63,29,0.46,"12308A","IL13","chr5:131995964","c.431A>G(E4)","p.144,Q>R","rs20541",0.73,0.64,0.6,0.68,0.64,0.67,"杂合","无关","有rs号，MAF>=5%","15660293;15726497;16024651;16449530;16702372;16759385;16832637;17135570;17303794;17327408;17346294;17561245;17615386;17705862;18006935;18056382;18075513;18186920;18410415;18417506;18614543;18633131;18676870;18687755;18778477;18846228;19066394;19169254;19254294;19262574;19356949;19533685;19554022;19759553;19796199;19840389;19956101;19956102;19956106;19956109;20015396;20298583;20332709;20358028;20403202;20406895;20484924;20606885;20811626;20952689;20975284;21253569;21309855;21320344;21349879;21613309;21913997;22045834;22075330;22201026;22222605;22286212;22376040;22432974;22534877;22694930;23171465;23200760;23246181;23299779;23395224;23462527;23545317;23663310;23815671;23817569;23886662;23954258;23978640;24286397;24848505;24917882;24971308;24973272","哮喘，易感","AD",600807,5,1,1,2,"IL13",1,53,"错义",12220,"0.43=42/98","位于基因组单拷贝区域+DNA结构正常",3596,"5q31","NM_002188.2"]
["12308A(99)v14939",30,1,0.03,"12308A","IL16","chr15:81572054","c.1020G>C(E8)","p.340,S>S","rs545808485",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"IL16",1,98,"同义",13303,"0.10=6/59","位于基因组单拷贝区域+DNA结构正常",3603,"15q26.3","NM_001172128.1"]
["12308A(99)v20854",64,34,0.53,"12308A","IL1RL1","chr2:102968362","c.1652T>C(E11)","p.551,L>S","rs10206753",0.39,0.15,0.15,0.15,0.14,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"IL1RL1",1,220,"错义",12220,"0.57=53/93","位于基因组单拷贝区域+DNA结构正常",9173,"2q12","NM_016232.4"]
["12308A(99)v12892",73,37,0.51,"12308A","IL36B","chr2:113789316","m.75C>T(E2)","非编码区","rs2305150",0.64,0.7,0.73,0.68,0.65,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"IL36B",1,200,"非编码区",14200,"0.46=56/123","位于基因组单拷贝区域+DNA结构正常",27177,"2q14","NM_014438.3"]
["12308A(99)v11411",12,1,0.08,"12308A","IMPDH1","chr7:128040436","c.737C>T(E8)","p.246,R>Q","rs201071873",{"$nulls":4},1.8E-3,0,"杂合","可能相关","蛋白结构预测结果为有害",null,"视网膜色素变性10型-AD","AD,AR,XR",180105,2,1,3,2,"IMPDH1",1,48,"错义",12310,"0.12=2/17","位于基因组多拷贝区域+DNA结构正常",3614,"7q31.3-q32","NM_000883.3"]
["12308A(99)v2066",85,85,1,"12308A","IMPG2","chr3:100994497","IVS6+10C>T","非编码区","rs533852",0.36,0.36,0.37,0.35,0.3,0.35,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性56型-AR","AR",613581,5,1,3,2,"IMPG2",1,180,"非编码区",16203,"0.99=153/155","位于基因组单拷贝区域+DNA结构正常",50939,"3q12.2-q12.3","NM_016247.3"]
["12308A(99)v28741",2,2,1,"12308A","INF2","chr14:105177352-105177352","IVS14+8:缺失A","非编码区","rs3840006",0.69,0.91,0.94,0.89,0.54,0.91,"纯合","无关","内含子突变",null,"恰克-马利-杜斯氏症,显性中间E型","AD",614455,5,1,6,2,"INF2",0.97,15,"非编码区",2500,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",64423,"14q32.33","NM_001031714.3"]
["12308A(99)v13092",6,1,0.17,"12308A","INSL5","chr1:67263549","m.593C>A(E2)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"INSL5",1,130,"非编码区",14400,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",10022,"1p31.3","NM_005478.4"]
["12308A(99)v23123",105,2,0.02,"12308A","INSR","chr19:7166228-7166228","c.1798(E8):缺失A","缺失移码",{"$nulls":5},0,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"Rabson-Mendenhall 综合征","AR",262190,1,3,5,4,"INSR",0.98,95,"缺失移码",2140,"0.02=2/117","位于基因组单拷贝区域+DNA结构正常",3643,"19p13.3-p13.2","NM_000208.2"]
["12308A(99)v10439",24,24,1,"12308A","IQCE","chr7:2649673","IVS20-5T>C","剪切位点","rs3735108",0.44,0.5,0.46,0.55,null,0.51,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"IQCE",0.96,59,"剪切位点",16202,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",23288,"7p22.3","NM_001100390.1"]
["12308A(99)v25853",24,23,0.96,"12308A","IQGAP3","chr1:156496188","m.5061A>G(E38)","非编码区","rs6427315",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"IQGAP3",1,81,"非编码区",14200,"0.97=31/32","位于基因组单拷贝区域+DNA结构正常",128239,"1q21.3","NM_178229.4"]
["12308A(99)v5932",6,5,0.83,"12308A","ISG15","chr1:948846-948847","m.1(E1):插入A","非编码区",{"$nulls":5},0.096,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"免疫缺陷38","AR",616126,3,3,3,1,"ISG15",1,4,"非编码区",2440,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",9636,"1p36.33","NM_005101.3"]
["12308A(99)v20707",176,176,1,"12308A","ITGA1","chr5:52248291","m.3602T>C(E29)","非编码区","rs1054085",0.58,0.56,0.52,0.59,0.53,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ITGA1",0.98,280,"非编码区",14200,"1.00=312/312","位于基因组单拷贝区域+DNA结构正常",3672,"5q11.2","NM_181501.1"]
["12308A(99)v19581",24,7,0.29,"12308A","ITGAE","chr17:3649214","c.2163G>A(E18)","p.721,R>R","rs1183610",0.72,0.48,0.47,0.49,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ITGAE",0.96,95,"同义",13203,"0.31=11/36","位于基因组单拷贝区域+DNA结构正常",3682,"17p13","NM_002208.4"]
["12308A(99)v17627",20,20,1,"12308A","ITGB2","chr21:46314907","c.1062T>A(E9)","p.354,Q>H","rs235330",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"白细胞黏附分子缺陷I型","AR",116920,5,1,3,1,"ITGB2",0.99,30,"错义",12210,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",3689,"21q22.3","NM_000211.3"]
["12308A(99)v9657",3,3,1,"12308A","ITGB8","chr7:20371395","m.671T>C(E1)","非编码区","rs206197",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ITGB8",1,200,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",3696,"7p21.1","NM_002214.2"]
["12308A(99)v8108",22,10,0.45,"12308A","ITPK1","chr14:93404674","m.1388T>C(E11)","非编码区","rs6575304",0.48,0.73,0.75,0.7,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ITPK1",0.8,36,"非编码区",14200,"0.48=12/25","位于基因组单拷贝区域+DNA结构正常",3705,"14q31","NM_001142594.1"]
["12308A(99)v27380",23,14,0.61,"12308A","IVL","chr1:152883711","c.1438G>C(E2)","p.480,V>L","rs7545520",0.41,0.57,0.58,0.56,0.59,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"IVL",1,35,"错义",12220,"0.67=32/48","位于基因组单拷贝区域+DNA结构正常",3713,"1q21","NM_005547.2"]
["12308A(99)v23246",47,47,1,"12308A","JAK1","chr1:65321388","IVS10-7G>A","剪切位点","rs310229",0.4,0.28,0.28,0.28,0.33,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"JAK1",1,170,"剪切位点",16202,"1.00=69/69","位于基因组单拷贝区域+DNA结构正常",3716,"1p32.3-p31.3","NM_002227.2"]
["12308A(99)v19554",24,24,1,"12308A","JMJD7-PLA2G4B","chr15:42139038","IVS23+5G>A","剪切位点","rs890508",0.75,0.87,0.91,0.83,null,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"JMJD7-PLA2G4B",1,39,"剪切位点",16201,"0.98=40/41","位于基因组单拷贝区域+DNA结构正常",8681,"15q11.2-q21.3","NM_001198588.1"]
["12308A(99)v1317",90,43,0.48,"12308A","KALRN","chr3:124369650","IVS37-5T>C","剪切位点","rs2291988",0.26,0.45,0.41,0.49,0.35,0.43,"杂合","无关","有rs号，MAF>=5%",null,"冠状动脉心脏病易感5型",null,608901,5,2,10,1,"KALRN",1,120,"剪切位点",16202,"0.46=62/135","位于基因组单拷贝区域+DNA结构正常",8997,"3q21.2","NM_001024660.3"]
["12308A(99)v17692",12,12,1,"12308A","KANK4","chr1:62713224","c.2803C>G(E9)","p.935,V>L","rs2941679",0.99,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"KANK4",1,56,"错义",12220,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",163782,"1p31.3","NM_181712.4"]
["12308A(99)v24238",53,53,1,"12308A","KCNA1","chr12:5021984","c.1440T>A(E2)","p.480,T>T","rs4766309",0.82,0.96,0.97,0.95,0.93,0.96,"纯合","无关","有rs号，MAF>=5%",null,"间歇性共济失调1型","AD",160120,5,1,4,1,"KCNA1",1,62,"同义",13203,"0.99=87/88","位于基因组单拷贝区域+DNA结构正常",3736,"12p13.32","NM_000217.2"]
["12308A(99)v19808",1,1,1,"12308A","KCNE4","chr2:223919737","m.2343A>G(E2)","非编码区","rs10172380",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KCNE4",1,22,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",23704,"2q36.1","NM_080671.2"]
["12308A(99)v10730",28,9,0.32,"12308A","KCNJ12","chr17:21318782","c.128G>A(E3)","p.43,R>H","rs78117732",{"$nulls":4},0.41,0.49,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,21,0,"KCNJ12",1,46,"错义",12310,"0.30=17/56","位于基因组单拷贝区域+DNA结构正常",3768,"17p11.2","NM_021012.4"]
["12308A(99)v10745",89,16,0.18,"12308A","KCNJ12","chr17:21319651-21319653","c.997(E3)至c.999(E3):缺失GAG","缺失非移码",{"$nulls":5},0.044,0.49,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,21,0,"KCNJ12",1,46,"缺失非移码",2241,"0.19=18/97","位于基因组多拷贝区域+DNA结构正常",3768,"17p11.2","NM_021012.4"]
["12308A(99)v9523",15,5,0.33,"12308A","KCNN3","chr1:154744807","c.1092C>G(E3)","p.364,L>L","rs1051614",null,0.49,0.54,0.43,0.45,0.51,"杂合","未知","预测范围之外的同义突变",21266667,{"$nulls":3},4,null,5,0,"KCNN3",0.98,67,"同义",13303,"0.40=10/25","位于基因组单拷贝区域+DNA结构正常",3782,"1q21.3","NM_001204087.1"]
["12308A(99)v4198",14,9,0.64,"12308A","KCNT1","chr9:138662273","c.1749G>A(E17)","p.583,A>A","rs17038714",0.36,0.47,0.49,0.46,0.38,0.42,"杂合","无关","有rs号，MAF>=5%",null,"夜发性额叶癫痫5型","AD",615005,5,1,2,2,"KCNT1",0.82,28,"同义",13203,"0.57=12/21","位于基因组单拷贝区域+DNA结构正常",57582,"9q34.3","NM_020822.2"]
["12308A(99)v5819",162,75,0.46,"12308A","KCTD9","chr8:25287397","c.1146T>C(E12)","p.382,L>L","rs1812594",0.16,0.3,0.28,0.32,0.29,0.27,"杂合","无关","有rs号，MAF>=5%",19640273,{"$nulls":3},5,null,2,0,"KCTD9",1,280,"同义",13203,"0.44=146/329","位于基因组多拷贝区域+DNA结构正常",54793,"8p21.1","NM_017634.3"]
["12308A(99)v17486",2,2,1,"12308A","KDM6B","chr17:7750232","c.807T>C(E9)","p.269,A>A","rs11078709",0.43,0.8,0.8,0.81,0.75,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KDM6B",0.92,28,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23135,"17p13.1","NM_001080424.1"]
["12308A(99)v29805",47,47,1,"12308A","KDR","chr4:55946081","m.4400A>G(E30)","非编码区","rs4421048",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",null,"小儿毛细管血管瘤","AD",602089,5,1,2,1,"KDR",1,210,"非编码区",14200,"1.00=88/88","位于基因组单拷贝区域+DNA结构正常",3791,"4q11-q12","NM_002253.2"]
["12308A(99)v8927",189,86,0.46,"12308A","KIAA0586","chr14:58958923","c.4079A>G(E28)","p.1360,D>G","rs3783697",0.024,0.11,0.11,0.11,0.12,0.09,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"KIAA0586",0.93,240,"错义",12110,"0.42=144/342","位于基因组单拷贝区域+DNA结构正常",9786,"14q23.1","NM_001244189.1"]
["12308A(99)v11200",17,17,1,"12308A","KIAA1024","chr15:79750307","c.1818T>C(E2)","p.606,I>I","rs1004724",0.95,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KIAA1024",1,89,"同义",13203,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",23251,"15q25.1","NM_015206.2"]
["12308A(99)v13132",68,68,1,"12308A","KIAA1107","chr1:92646021","c.1467G>A(E8)","p.489,K>K","rs1483022",0.71,0.97,0.95,0.99,0.93,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KIAA1107",1,140,"同义",13203,"1.00=107/107","位于基因组单拷贝区域+DNA结构正常",23285,"1p22.1","NM_015237.2"]
["12308A(99)v18035",14,10,0.71,"12308A","KIAA1429","chr8:95523233-95523233","m.3641(E13):缺失G插入TT","非编码区",{"$nulls":5},0.011,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"KIAA1429",1,220,"非编码区",2440,"0.71=10/14","位于基因组单拷贝区域+DNA结构正常",25962,"8q22.1","NM_183009.2"]
["12308A(99)v16290",12,8,0.67,"12308A","KIAA1609","chr16:84513463","m.1534T>G(E8)","非编码区","rs899250",0.77,0.93,0.97,0.88,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KIAA1609",1,76,"非编码区",14200,"0.65=11/17","位于基因组单拷贝区域+DNA结构正常",57707,"16q24.1","NM_020947.3"]
["12308A(99)v6960",41,41,1,"12308A","KIAA1614","chr1:180913597","c.3232A>G(E8)","p.1078,N>D","rs2331995",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KIAA1614",0.89,29,"错义",12220,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",57710,"1q25.3","NM_020950.1"]
["12308A(99)v3813",15,9,0.6,"12308A","KIAA1751","chr1:1886385","m.3077T>C(E18)","非编码区","rs2803286",0.81,0.86,0.88,0.84,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KIAA1751",1,53,"非编码区",14200,"0.58=14/24","位于基因组单拷贝区域+DNA结构正常",85452,"1p36.33","NM_001080484.1"]
["12308A(99)v16846",1,1,1,"12308A","KIF14","chr1:200522351","m.5551A>T(E30)","非编码区","rs10800708",0.56,0.65,0.67,0.64,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KIF14",1,250,"非编码区",14200,"1.00=1/1","位于基因组多拷贝区域+DNA结构正常",9928,"1q32.1","NM_014875.2"]
["12308A(99)v943",15,9,0.6,"12308A","KIF19","chr17:72351406","c.2952C>T(E20)","p.984,H>H","rs2271536",0.35,0.39,0.4,0.38,0.37,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KIF19",0.81,31,"同义",13203,"0.55=16/29","位于基因组单拷贝区域+DNA结构正常",124602,"17q25.1","NM_153209.3"]
["12308A(99)v1684",6,1,0.17,"12308A","KIF5C","chr2:149633423","otherG>T","非编码区",{"$nulls":7},"杂合","无关","突变在基因上，但不属于任何转录变体",null,"复合型脑皮质发育不良伴其他脑发育畸形2型","AD",615282,5,1,5,1,"KIF5C",0.1,150,"非编码区",17000,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",3800,"2q23.1","NM_004522.2"]
["12308A(99)v17828",20,6,0.3,"12308A","KIR2DL1","chr19:55295596","m.1416A>C(E8)","非编码区","rs62123005",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"KIR2DL1",1,880,"非编码区",14300,"0.26=8/31","位于基因组多拷贝区域+DNA结构正常",3802,"19q13.4","NM_014218.2"]
["12308A(99)v10675",143,143,1,"12308A","KIRREL2","chr19:36355595","c.1771A>G(E14)","p.591,K>E","rs382789",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KIRREL2",0.96,59,"错义",12220,"1.00=297/298","位于基因组单拷贝区域+DNA结构正常",84063,"19q13.12","NM_032123.5"]
["12308A(99)v12272",66,66,1,"12308A","KLF11","chr2:10188649","c.1134A>T(E3)","p.378,V>V","rs11687357",0.84,0.83,0.86,0.8,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",null,"年轻起病成人型糖尿病7型",null,610508,5,1,1,1,"KLF11",0.97,88,"同义",13203,"0.99=108/109","位于基因组单拷贝区域+DNA结构正常",8462,"2p25","NM_001177716.1"]
["12308A(99)v12278",79,38,0.48,"12308A","KLHDC4","chr16:87788864","c.134G>A(E2)","p.45,T>I","rs2303771",0.41,0.37,0.37,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KLHDC4",0.99,81,"错义",12220,"0.52=68/131","位于基因组单拷贝区域+DNA结构正常",54758,"16q24.3","NM_001184854.1"]
["12308A(99)v6179",82,42,0.51,"12308A","KLHL33","chr14:20897676","c.1034T>C(E3)","p.345,E>G","rs1953225",0.26,0.27,0.31,0.23,0.24,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KLHL33",1,59,"错义",12220,"0.49=68/139","位于基因组单拷贝区域+DNA结构正常",123103,"14q11.2","NM_001109997.2"]
["12308A(99)v5850",26,16,0.62,"12308A","KLK15","chr19:51330932","c.183G>T(E2)","p.61,A>A","rs3745522",0.28,0.55,0.53,0.57,0.46,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KLK15",1,40,"同义",13203,"0.54=20/37","位于基因组单拷贝区域+DNA结构正常",55554,"19q13.41","NM_017509.2"]
["12308A(99)v22660",310,309,1,"12308A","KLRC3","chr12:10570965","c.464C>G(E4)","p.155,C>S","rs2682495",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"KLRC3",0.95,320,"错义",12220,"0.99=545/548","位于基因组多拷贝区域+DNA结构正常",3823,"12p13","NM_002261.2"]
["12308A(99)v31655",7,7,1,"12308A","KLRD1","chr12:10460442","m.26C>T(E1)","非编码区","rs3863336",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"KLRD1",1,240,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",3824,"12p13","NM_002262.3"]
["12308A(99)v12795",159,85,0.53,"12308A","KRAS","chr12:25362777","c.519A>G(E5)","p.173,D>D","rs1137282",0.18,0.091,0.09,0.092,0.095,0.1,"杂合","无关","有rs号，MAF>=5%","18805939;21688344","乳腺癌，浸润性导管","AD",114480,5,1,4,9,"KRAS",1,350,"同义",13203,"0.53=151/283","位于基因组单拷贝区域+DNA结构正常",3845,"12p12.1","NM_004985.3"]
["12308A(99)v3618",8,8,1,"12308A","KRBA1","chr7:149426305-149426306","c.1654(E13)至c.1655(E13):插入C","插入移码","rs398006750",1,1,1,1,0.13,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,2,0,"KRBA1",1,27,"插入移码",2120,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",84626,"7q36","NM_032534.2"]
["12308A(99)v22164",12,11,0.92,"12308A","KRT14","chr17:39742899","c.188C>T(E1)","p.63,C>Y","rs6503640",0.99,1,1,1,0.89,1,"纯合","无关","有rs号，MAF>=5%",null,"单纯性大疱性表皮松解症Dowling-Meara型","AD",131760,5,1,5,6,"KRT14",1,50,"错义",12230,"0.93=13/14","位于基因组多拷贝区域+DNA结构正常",3861,"17q12-q21","NM_000526.4"]
["12308A(99)v23916",7,4,0.57,"12308A","KRT23","chr17:39092868","m.577G>A(E2)","非编码区","rs2269858",0.32,0.43,0.43,0.42,null,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KRT23",1,110,"非编码区",14200,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",25984,"17q21.2","NM_015515.3"]
["12308A(99)v23802",58,30,0.52,"12308A","KRT40","chr17:39137387","c.704C>T(E6)","p.235,R>H","rs2010027",0.36,0.18,0.15,0.21,0.18,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"KRT40",1,99,"错义",12210,"0.48=43/89","位于基因组单拷贝区域+DNA结构正常",125115,"17q21.2","NM_182497.3"]
["12308A(99)v10538",80,34,0.42,"12308A","KRT6C","chr12:52863213","c.1441C>T(E8)","p.481,V>I","rs412533",0.25,0.5,0.48,0.51,0.47,0.51,"杂合","无关","有rs号，MAF>=5%",null,"点状或弥漫性非表皮松懈型掌跖角化病","AD",615735,5,1,12,1,"KRT6C",1,95,"错义",12220,"0.43=64/149","位于基因组多拷贝区域+DNA结构正常",286887,"12q13.13","NM_173086.4"]
["12308A(99)v9253",119,115,0.97,"12308A","KRT77","chr12:53096913","c.306G>A(E1)","p.102,T>T","rs1625862",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KRT77",0.84,83,"同义",13203,"0.94=188/199","位于基因组单拷贝区域+DNA结构正常",374454,"12q13.13","NM_175078.2"]
["12308A(99)v17920",77,77,1,"12308A","KRT86","chr12:52699548","c.1002T>C(E6)","p.334,A>A","rs2032360",0.46,0.49,0.46,0.52,0.48,0.47,"纯合","无关","有rs号，MAF>=5%",null,"念珠状发","AD",158000,5,1,2,1,"KRT86",1,77,"同义",13203,"1.00=132/132","位于基因组多拷贝区域+DNA结构正常",3892,"12q13","NM_002284.3"]
["12308A(99)v15258",10,5,0.5,"12308A","KRTAP10-10","chr21:46057393","c.59T>A(E1)","p.20,V>D","rs2838602",0.78,0.66,0.69,0.64,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KRTAP10-10",0.96,7.1,"错义",12220,"0.46=6/13","位于基因组多拷贝区域+DNA结构正常",353333,"21q22.3","NM_181688.1"]
["12308A(99)v25158",11,5,0.45,"12308A","KRTAP1-5","chr17:39183037","c.371C>T(E1)","p.124,R>H","rs148354281",6.6E-3,0.026,0.029,0.024,0.023,0.036,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"KRTAP1-5",1,25,"错义",12110,"0.57=8/14","位于基因组多拷贝区域+DNA结构正常",83895,"17q12-q21","NM_031957.1"]
["12308A(99)v20578",18,7,0.39,"12308A","KRTAP3-2","chr17:39156084","c.22T>C(E1)","p.8,S>G","rs9897046",0.3,0.25,0.25,0.25,0.23,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KRTAP3-2",1,46,"错义",12220,"0.48=16/33","位于基因组多拷贝区域+DNA结构正常",83897,"17q12-q21","NM_031959.2"]
["12308A(99)v11009",123,41,0.33,"12308A","KRTAP9-2","chr17:39383041","c.135C>T(E1)","p.45,S>S",{"$nulls":6},3.5E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"KRTAP9-2",1,190,"同义",13403,"0.31=49/158","位于基因组多拷贝区域+DNA结构正常",83899,"17q12-q21","NM_031961.2"]
["12308A(99)v2181",41,14,0.34,"12308A","KRTCAP3","chr2:27669342-27669342","m.950(E7):缺失T","非编码区","rs11333597",0.45,0.15,0.18,0.12,0.022,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"KRTCAP3",1,43,"非编码区",2420,"0.33=14/43","位于基因组单拷贝区域+DNA结构正常",200634,"2p23.3","NM_001168364.1"]
["12308A(99)v17790",125,125,1,"12308A","LAMA3","chr18:21511172","IVS28+7G>C","非编码区","rs1258107",null,1,1,1,0.96,1,"纯合","未知","内含子突变可能影响调控",null,"非赫利茨型交界型大疱性表皮松解症","AR",226650,4,1,4,3,"LAMA3",0.97,170,"非编码区",16303,"1.00=206/207","位于基因组单拷贝区域+DNA结构正常",3909,"18q11.2","NM_000227.3"]
["12308A(99)v29439",15,1,0.07,"12308A","LAMA5","chr20:60911426","c.2293G>T(E18)","p.765,L>M",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,20,0,"LAMA5",0.86,7.3,"错义",12420,"0.14=4/28","位于基因组单拷贝区域+DNA结构正常",3911,"20q13.2-q13.3","NM_005560.3"]
["12308A(99)v29509",70,70,1,"12308A","LAMC1","chr1:183093875","c.2511T>C(E14)","p.837,N>N","rs20557",null,0.59,0.63,0.55,0.57,0.63,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"LAMC1",0.97,140,"同义",13303,"0.99=113/114","位于基因组单拷贝区域+DNA结构正常",3915,"1q31","NM_002293.3"]
["12308A(99)v25335",29,29,1,"12308A","LAMC3","chr9:133963101","IVS26-4A>G","剪切位点","rs4740413",0.37,0.32,0.32,0.33,0.38,0.33,"纯合","无关","有rs号，MAF>=5%",null,"枕骨大脑皮质发育障碍","AR",614115,5,1,11,1,"LAMC3",0.91,28,"剪切位点",16202,"1.00=50/50","位于基因组单拷贝区域+DNA结构正常",10319,"9q31-q34","NM_006059.3"]
["12308A(99)v20613",125,64,0.51,"12308A","LARS","chr5:145539996","c.648T>G(E7)","p.216,S>S","rs11540214",{"$nulls":4},0.19,0.22,"杂合","未知","预测范围之外的同义突变",null,"小儿肝功能衰竭综合征1型 ","AR",615438,4,3,11,1,"LARS",1,290,"同义",13303,"0.51=110/217","位于基因组单拷贝区域+DNA结构正常",51520,"5q32","NM_020117.9"]
["12308A(99)v28210",195,195,1,"12308A","LBP","chr20:36989381","c.612G>A(E6)","p.204,S>S","rs2232596",0.65,0.86,0.91,0.81,0.85,0.88,"纯合","无关","有rs号，MAF>=5%","18056482;21349911",{"$nulls":3},5,null,4,0,"LBP",1,120,"同义",13203,"1.00=367/368","位于基因组单拷贝区域+DNA结构正常",3929,"20q11.23","NM_004139.3"]
["12308A(99)v25561",19,10,0.53,"12308A","LCMT2","chr15:43621947","c.741A>G(E1)","p.247,R>R","rs3742969",0.4,0.5,0.48,0.53,0.41,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LCMT2",0.94,56,"同义",13203,"0.54=15/28","位于基因组单拷贝区域+DNA结构正常",9836,"15q15.3","NM_014793.4"]
["12308A(99)v17029",4,4,1,"12308A","LDLRAD2","chr1:22149935","m.2233T>C(E5)","非编码区","rs897467",0.78,0.8,0.78,0.82,0.63,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LDLRAD2",0.75,27,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",401944,"1p36.12","NM_001013693.2"]
["12308A(99)v31353",40,24,0.6,"12308A","LGALS8","chr1:236715517","m.5517T>C(E12)","非编码区","rs3189",0.5,0.5,0.5,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,19,0,"LGALS8",1,210,"非编码区",14200,"0.63=29/46","位于基因组单拷贝区域+DNA结构正常",3964,"1q43","NM_006499.4"]
["12308A(99)v8754",5,3,0.6,"12308A","LGI4","chr19:35616316","c.1395C>T(E9)","p.465,Q>Q","rs12610234",0.36,0.25,0.29,0.22,0.23,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LGI4",0.89,25,"同义",13203,"0.60=3/5","位于基因组单拷贝区域+DNA结构正常",163175,"19q13.12|19q13.11","NM_139284.2"]
["12308A(99)v27759",26,11,0.42,"12308A","LGR6","chr1:202245609","c.604C>T(E5)","p.202,P>S","rs117583891",0.0036,0.0072,0.0048,0.0097,0.01,0.0073,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,8,0,"LGR6",0.93,60,"错义",12110,"0.34=16/47","位于基因组单拷贝区域+DNA结构正常",59352,"1q32.1","NM_001017403.1"]
["12308A(99)v28136",54,30,0.56,"12308A","LILRB4","chr19:55178162","c.1003A>G(E10)","p.335,N>D","rs11574576",0.45,0.61,0.58,0.65,0.58,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LILRB4",1,130,"错义",12220,"0.61=57/94","位于基因组多拷贝区域+DNA结构正常",11006,"19q13.4","NM_001081438.1"]
["12308A(99)v13847",33,19,0.58,"12308A","LIMK2","chr22:31673111","c.2046A>G(E15)","p.682,T>T","rs3747153",0.12,0.36,0.37,0.34,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LIMK2",1,92,"同义",13203,"0.48=24/50","位于基因组多拷贝区域+DNA结构正常",3985,"22q12.2","NM_001031801.1"]
["12308A(99)v21237",54,54,1,"12308A","LINS","chr15:101113862","c.1216C>T(E5)","p.406,V>M","rs12719734",0.9,0.61,0.63,0.58,0.59,0.61,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传性精神智力发育迟滞27型","AR",614340,5,1,11,1,"LINS",1,140,"错义",12230,"1.00=85/85","位于基因组单拷贝区域+DNA结构正常",55180,"15q26.3","NM_001040616.2"]
["12308A(99)v24396",2,2,1,"12308A","LLGL2","chr17:73560733","m.1335C>T(E10)","非编码区","rs12451129",0.067,0.13,0.12,0.15,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LLGL2",0.96,19,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",3993,"17q25.1","NM_001015002.1"]
["12308A(99)v7524",1,1,1,"12308A","LMNA","chr1:156064212","otherC>T","非编码区","rs1962065",0.41,0.74,0.71,0.77,null,null,"纯合","无关","突变在基因上，但不属于任何转录变体",null,"早年衰老综合症/Hutchinson-Gilford Progeria综合征","AD",176670,5,1,3,11,"LMNA",0.98,26,"非编码区",17000,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",4000,"1q22","NM_001257374.1"]
["12308A(99)v15332",1,1,1,"12308A","LMX1B","chr9:129460119","m.2617T>G(E8)","非编码区","rs13300385",0.16,0.36,0.4,0.32,null,null,"纯合","无关","有rs号，MAF>=5%",null,"甲-髌-肘综合征/指甲髌骨综合征","AD",161200,5,1,4,1,"LMX1B",1,22,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",4010,"9q33.3","NM_001174146.1"]
["12308A(99)v19160",477,146,0.31,"12308A","LOC100287399","chr15:21071192","IVS1+9C>T","非编码区",{"$nulls":6},0.42,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"LOC100287399",1,790,"非编码区",16403,"0.30=251/837","位于基因组多拷贝区域+DNA结构正常",100287399,"15q11.2","XM_002343312.5"]
["12308A(99)v1668",268,268,1,"12308A","LOC101060092","chr10:17891705","c.1186A>G(E7)","p.396,S>G","rs1926736",0.62,0.57,0.54,0.6,0.5,0.55,"纯合","无关","有rs号，MAF>=5%","16385451;19902202;22392581;24969847",{"$nulls":3},5,null,2,0,"LOC101060092",0.99,260,"错义",12230,"1.00=473/474","位于基因组多拷贝区域+DNA结构正常",null,null,"XM_003959927.1"]
["12308A(99)v20890",6,6,1,"12308A","LOH12CR1","chr12:12618715","m.962T>C(E4)","非编码区","rs967648",0.94,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LOH12CR1",1,120,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",118426,"12p12","NM_058169.3"]
["12308A(99)v18558",14,14,1,"12308A","LPIN2","chr18:2920288","m.2933G>A(E20)","非编码区","rs3745012",0.36,0.58,0.58,0.59,0.55,0.61,"纯合","无关","有rs号，MAF>=5%",null,"Majeed综合症",null,609628,5,1,1,1,"LPIN2",1,150,"非编码区",14200,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",9663,"18p11.31","NM_014646.2"]
["12308A(99)v19633",9,9,1,"12308A","LPPR5","chr1:99358358","m.1443G>T(E6)","非编码区","rs984271",0.57,0.73,0.73,0.73,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LPPR5",1,200,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",163404,"1p21.3","NM_001010861.2"]
["12308A(99)v1282",161,160,0.99,"12308A","LRP1B","chr2:141816621","c.1239A>G(E9)","p.413,V>V","rs1525579",0.95,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"LRP1B",1,250,"剪切位点",13202,"0.99=285/289","位于基因组单拷贝区域+DNA结构正常",53353,"2q21.2","NM_018557.2"]
["12308A(99)v31417",12,7,0.58,"12308A","LRP2BP","chr4:186299519","m.634A>C(E1)","非编码区","rs1288549",0.49,0.33,0.32,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LRP2BP",1,250,"非编码区",14200,"0.54=7/13","位于基因组单拷贝区域+DNA结构正常",55805,"4q35.1","NM_018409.3"]
["12308A(99)v9413",4,1,0.25,"12308A","LRP5","chr11:68192724","c.3391G>A(E15)","p.1131,A>T",{"$nulls":5},0.0007,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"骨质疏松-假性神经胶质瘤综合征","AR",259770,3,3,3,7,"LRP5",0.98,30,"错义",12420,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",4041,"11q13.4","NM_002335.2"]
["12308A(99)v2069",11,11,1,"12308A","LRRC32","chr11:76370792","c.1845A>G(E3)","p.615,P>P","rs4304809",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LRRC32",0.99,12,"同义",13203,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",2615,"11q13.5-q14","NM_001128922.1"]
["12308A(99)v16708",12,12,1,"12308A","LRRC48","chr17:17897739","IVS8+7T>C","非编码区","rs4924832",0.63,0.93,0.94,0.92,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LRRC48",1,110,"非编码区",16203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",83450,"17p11.2","NM_001130090.1"]
["12308A(99)v7519",22,22,1,"12308A","LRRIQ4","chr3:169540397","c.688T>C(E1)","p.230,L>L","rs1920119",0.6,0.76,0.75,0.78,0.65,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"LRRIQ4",1,140,"同义",13203,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",344657,"3q26.2","NM_001080460.1"]
["12308A(99)v9119",69,69,1,"12308A","LRTM1","chr3:54962013","m.60A>C(E1)","非编码区","rs56327704",0.49,0.73,0.72,0.73,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LRTM1",1,88,"非编码区",14200,"1.00=99/99","位于基因组单拷贝区域+DNA结构正常",57408,"3p14.3","NM_020678.2"]
["12308A(99)v372",2,1,0.5,"12308A","LTBP4","chr19:41111380","c.713A>G(E6)","p.238,E>G",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"皮肤症伴严重肺、胃肠及肾脏异常","AR",613177,2,3,2,1,"LTBP4",0.79,27,"错义",12410,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",8425,"19q13.1-q13.2","NM_001042544.1"]
["12308A(99)v21487",149,58,0.39,"12308A","LTN1","chr21:30318466","IVS20+8T>G","非编码区","rs2243552",0.41,0.74,0.77,0.71,null,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LTN1",1,230,"非编码区",16203,"0.34=89/262","位于基因组单拷贝区域+DNA结构正常",26046,"21q22.11","NM_015565.2"]
["12308A(99)v3149",2,2,1,"12308A","LYPD2","chr8:143833850","c.20G>A(E1)","p.7,A>V","rs11775636",0.25,0.42,0.4,0.44,0.33,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LYPD2",1,31,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",137797,"8q24.3","NM_205545.1"]
["12308A(99)v10940",106,106,1,"12308A","MACC1","chr7:20180717","c.2411C>G(E7)","p.804,R>T","rs3735615",0.6,0.83,0.84,0.83,0.86,0.85,"纯合","无关","有rs号，MAF>=5%",24910416,{"$nulls":3},5,null,4,0,"MACC1",1,150,"错义",12210,"1.00=175/175","位于基因组单拷贝区域+DNA结构正常",346389,"7p21.1","NM_182762.3"]
["12308A(99)v19291",37,36,0.97,"12308A","MAGEA12","chrX:151899818","m.1337C>T(E3)","非编码区","rs2233056",null,0.72,0.76,0.69,null,0.69,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"MAGEA12",1,86,"非编码区",14300,"0.98=50/51","位于基因组多拷贝区域+DNA结构正常",4111,"Xq28","NM_001166386.1"]
["12308A(99)v13163",8,8,1,"12308A","MAGIX","chrX:49021537","c.316G>C(E3)","p.106,V>L","rs5905720",null,1,1,1,0.88,1,"纯合","未知","未知",{"$nulls":4},3,null,3,0,"MAGIX",0.86,11,"错义",12330,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",79917,"Xp11.23","NM_001099680.1"]
["12308A(99)v17706",15,15,1,"12308A","MAN2C1","chr15:75653378","IVS12+9T>C","非编码区","rs7174408",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MAN2C1",0.96,40,"非编码区",16203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",4123,"15q11-q13","NM_001256494.1"]
["12308A(99)v6797",69,38,0.55,"12308A","MAP2","chr2:210559960","c.3066G>T(E7)","p.1022,V>V","rs2239672",0.13,0.18,0.16,0.2,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MAP2",1,150,"同义",13203,"0.58=65/112","位于基因组单拷贝区域+DNA结构正常",4133,"2q34-q35","NM_002374.3"]
["12308A(99)v19696",108,54,0.5,"12308A","MAP2K3","chr17:21217513","c.928G>A(E12)","p.310,V>M","rs2363198",{"$nulls":4},0.49,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,24,0,"MAP2K3",1,100,"错义",12320,"0.44=79/179","位于基因组单拷贝区域+DNA结构正常",5606,"17q11.2","NM_002756.4"]
["12308A(99)v28909",8,5,0.62,"12308A","MAP6D1","chr3:183534976","m.826G>A(E3)","非编码区","rs2255015",0.41,0.4,0.36,0.43,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MAP6D1",0.33,27,"非编码区",14200,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",79929,"3q27.1","NM_024871.2"]
["12308A(99)v24350",14,14,1,"12308A","MAPK12","chr22:50694297","c.633A>G(E8)","p.211,S>S","rs1129880",0.84,0.88,0.85,0.9,0.79,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MAPK12",0.85,25,"同义",13203,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",6300,"22q13.33","NM_002969.3"]
["12308A(99)v26970",6,3,0.5,"12308A","MARCH4","chr2:217148417","c.552C>A(E2)","p.184,S>S","rs876771",0.44,0.44,0.43,0.45,0.4,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MARCH4",1,41,"同义",13203,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",57574,"2q35","NM_020814.2"]
["12308A(99)v28731",2,2,1,"12308A","MARVELD1","chr10:99473666","c.33C>G(E1)","p.11,P>P","rs11189342",0.46,0.62,0.62,0.62,0.49,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MARVELD1",0.95,3.4,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",83742,"10q24.2","NM_031484.3"]
["12308A(99)v7091",43,25,0.58,"12308A","MATN2","chr8:98943446","c.408T>C(E3)","p.136,T>T","rs2290470",0.43,0.8,0.82,0.78,0.77,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"MATN2",1,140,"同义",13203,"0.60=39/65","位于基因组单拷贝区域+DNA结构正常",4147,"8q22","NM_002380.3"]
["12308A(99)v30109",24,24,1,"12308A","MB","chr22:36007075","c.174C>T(E2)","p.58,A>A","rs7293",0.53,0.74,0.72,0.75,0.71,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MB",1,38,"同义",13203,"1.00=35/35","位于基因组单拷贝区域+DNA结构正常",4151,"22q13.1","NM_005368.2"]
["12308A(99)v29122",18,10,0.56,"12308A","MC1R","chr16:89986608","c.942A>G(E1)","p.314,T>T","rs2228478",0.26,0.27,0.33,0.21,0.2,0.27,"杂合","无关","有rs号，MAF>=5%","15660291;17999355;18654799;20042077;21052032;23744330","眼皮肤白化病2型","AR",203200,5,3,4,4,"MC1R",1,20,"同义",13203,"0.41=15/37","位于基因组单拷贝区域+DNA结构正常",4157,"16q24.3","NM_002386.3"]
["12308A(99)v23611",109,109,1,"12308A","MCF2L2","chr3:182925404","c.2704T>C(E23)","p.902,T>A","rs6804951",0.91,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MCF2L2",1,210,"错义",12220,"1.00=188/188","位于基因组单拷贝区域+DNA结构正常",23101,"3q27.1","NM_015078.2"]
["12308A(99)v2021",47,26,0.55,"12308A","MDC1","chr6:30673113","c.3847G>T(E10)","p.1283,P>T","rs79216909",0.046,0.031,0.019,0.044,0.057,0.042,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,11,0,"MDC1",0.54,34,"错义",12110,"0.51=36/70","位于基因组多拷贝区域+DNA结构正常",9656,"6p21.3","NM_014641.2"]
["12308A(99)v7170",119,119,1,"12308A","MDN1","chr6:90448092","c.4676C>T(E33)","p.1559,S>N","rs4140446",0.88,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"MDN1",1,180,"错义",12220,"1.00=206/207","位于基因组单拷贝区域+DNA结构正常",23195,"6q15","NM_014611.1"]
["12308A(99)v11448",89,32,0.36,"12308A","MDP1","chr14:24683267-24683267","c.354(E5):缺失A","缺失移码","rs398102305",0.2,0.21,0.26,0.17,0.012,0.21,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,1,0,"MDP1",1,130,"缺失移码",2120,"0.35=35/101","位于基因组单拷贝区域+DNA结构正常",145553,"14q12","NM_001199821.1"]
["12308A(99)v27648",54,54,1,"12308A","MEF2D","chr1:156446903","c.756T>C(E7)","p.252,P>P","rs2274317",0.57,0.69,0.75,0.64,0.66,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MEF2D",0.96,52,"同义",13203,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",4209,"1q12-q23","NM_005920.2"]
["12308A(99)v30062",91,42,0.46,"12308A","MEIG1","chr10:15014698","m.473C>T(E3)","非编码区","rs4418687",0.64,0.46,0.46,0.47,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MEIG1",1,420,"非编码区",14200,"0.43=63/147","位于基因组单拷贝区域+DNA结构正常",644890,"10p13","NM_001080836.2"]
["12308A(99)v12899",149,60,0.4,"12308A","METTL15","chr11:28134974","c.93C>A(E3)","p.31,N>K","rs60970073",0.6,0.72,0.72,0.73,0.67,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"METTL15",1,170,"错义",12220,"0.36=80/225","位于基因组多拷贝区域+DNA结构正常",196074,"11p14.1","NM_001113528.1"]
["12308A(99)v8507",143,143,1,"12308A","METTL2B","chr7:128141865","c.1032T>C(E9)","p.344,N>N","rs1053124",0.78,0.72,0.78,0.66,0.72,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"METTL2B",1,260,"同义",13203,"1.00=275/276","位于基因组多拷贝区域+DNA结构正常",55798,"7q32.1","NM_018396.2"]
["12308A(99)v8560",21,21,1,"12308A","MFSD11","chr17:74734323","m.741G>A(E1)","非编码区","rs237054",0.89,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MFSD11",1,230,"非编码区",14200,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",79157,"17q25","NM_001242532.1"]
["12308A(99)v14348",14,14,1,"12308A","MGA","chr15:42059521","m.8795A>T(E23)","非编码区","rs2605570",0.81,0.89,0.92,0.85,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MGA",1,160,"非编码区",14200,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",23269,"15q14","NM_001080541.2"]
["12308A(99)v9814",37,36,0.97,"12308A","MIA","chr19:41283365","m.477C>G(E5)","非编码区","rs2233159",0.86,0.77,0.77,0.77,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MIA",1,72,"非编码区",14200,"0.95=59/62","位于基因组单拷贝区域+DNA结构正常",8190,"19q13.32-q13.33","NM_001202553.1"]
["12308A(99)v14571",21,12,0.57,"12308A","MICALCL","chr11:12315848","c.870C>T(E3)","p.290,G>G","rs1493952",{"$nulls":4},0.51,0.54,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"MICALCL",1,110,"同义",13303,"0.59=20/34","位于基因组单拷贝区域+DNA结构正常",84953,"11p15.3","NM_032867.2"]
["12308A(99)v11158",86,47,0.55,"12308A","MKI67","chr10:129905429","c.3595C>T(E12)","p.1199,V>M","rs7918199",0.1,0.13,0.15,0.12,0.13,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,24,0,"MKI67",1,120,"错义",12220,"0.54=82/153","位于基因组多拷贝区域+DNA结构正常",4288,"10q26.2","NM_001145966.1"]
["12308A(99)v15478",8,4,0.5,"12308A","MKL1","chr22:40816841","IVS10+10G>A","非编码区","rs2072857",0.098,0.24,0.25,0.23,0.3,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MKL1",1,37,"非编码区",16203,"0.56=5/9","位于基因组单拷贝区域+DNA结构正常",57591,"22q13","NM_020831.3"]
["12308A(99)v11463",10,10,1,"12308A","MLL2","chr12:49425978","c.12510T>C(E39)","p.4170,P>P","rs3741622",0.28,0.38,0.43,0.33,0.37,0.43,"纯合","无关","有rs号，MAF>=5%",null,"Kabuki综合征1型 ","AD",147920,5,1,7,1,"MLL2",0.99,47,"同义",13203,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",8085,"12q13.12","NM_003482.3"]
["12308A(99)v26056",14,8,0.57,"12308A","MMD2","chr7:4946983","m.1053G>C(E7)","非编码区","rs59635549",0.083,0.19,0.19,0.2,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MMD2",1,51,"非编码区",14200,"0.65=11/17","位于基因组单拷贝区域+DNA结构正常",100505381,"10p","NM_001100600.1"]
["12308A(99)v9903",155,77,0.5,"12308A","MMP12","chr11:102736642","c.1069T>C(E8)","p.357,I>V","rs652438",0.12,0.1,0.13,0.073,0.094,0.12,"杂合","无关","有rs号，MAF>=5%","16311244;19321798;20078883;20230842;21277817;21730350;22388798",{"$nulls":3},5,null,2,0,"MMP12",1,260,"错义",12230,"0.48=125/260","位于基因组单拷贝区域+DNA结构正常",4321,"11q22.3","NM_002426.4"]
["12308A(99)v4137",26,8,0.31,"12308A","MMRN2","chr10:88717154","c.145C>T(E1)","p.49,G>S","rs3750823",0.42,0.71,0.75,0.67,0.67,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MMRN2",0.91,30,"错义",12220,"0.31=12/39","位于基因组单拷贝区域+DNA结构正常",79812,"10q23.2","NM_024756.2"]
["12308A(99)v25759",21,21,1,"12308A","MOCS1","chr6:39895410","m.46T>C(E1)","非编码区","rs3008822",0.62,0.85,0.88,0.82,0.73,null,"纯合","无关","有rs号，MAF>=5%",null,"钼辅因子缺乏症A","AR",252150,5,1,2,1,"MOCS1",0.9,59,"非编码区",14200,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",4337,"6p21.3","NM_005943.5"]
["12308A(99)v25548",9,1,0.11,"12308A","MPDU1","chr17:7490240","c.412G>T(E5)","p.138,G>C",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"先天性糖基化病1F型",null,609180,3,2,1,1,"MPDU1",1,70,"错义",12420,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",9526,"17p13.1-p12","NM_004870.3"]
["12308A(99)v18580",12,12,1,"12308A","MPHOSPH6","chr16:82182104","m.764T>C(E5)","非编码区","rs1056629",0.2,0.31,0.3,0.33,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MPHOSPH6",0.89,230,"非编码区",14200,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",10200,"16q23.3","NM_005792.2"]
["12308A(99)v14661",84,84,1,"12308A","MPZL3","chr11:118107805","c.411A>G(E3)","p.137,H>H","rs1793140",0.8,0.71,0.71,0.71,0.7,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MPZL3",1,150,"同义",13203,"1.00=123/123","位于基因组单拷贝区域+DNA结构正常",196264,"11q23.3","NM_198275.1"]
["12308A(99)v2453",44,24,0.55,"12308A","MRPL14","chr6:44081718","c.300G>A(E3)","p.100,F>F","rs6883",0.67,0.8,0.78,0.83,0.79,0.81,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MRPL14",1,67,"同义",13203,"0.56=44/78","位于基因组单拷贝区域+DNA结构正常",64928,"6p21.3","NM_032111.2"]
["12308A(99)v30217",181,180,0.99,"12308A","MRPL39","chr21:26965148","c.897G>A(E8)","p.299,G>G","rs1135638",0.73,0.73,0.73,0.72,0.72,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"MRPL39",1,240,"同义",13203,"1.00=309/310","位于基因组单拷贝区域+DNA结构正常",54148,"21q21.3","NM_017446.3"]
["12308A(99)v22978",89,42,0.47,"12308A","MRS2","chr6:24418786","c.1087T>C(E9)","p.363,L>L","rs79527965",0.12,0.18,0.19,0.17,0.21,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MRS2",1,210,"同义",13203,"0.48=63/131","位于基因组单拷贝区域+DNA结构正常",57380,"6p22.3-p22.1","NM_020662.2"]
["12308A(99)v7952",50,50,1,"12308A","MS4A14","chr11:60163958","m.472G>A(E1)","非编码区","rs6591579",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MS4A14",1,170,"非编码区",14200,"1.00=71/71","位于基因组单拷贝区域+DNA结构正常",84689,"11q12.2","NM_001079692.2"]
["12308A(99)v11592",31,30,0.97,"12308A","MT1A","chr16:56673227","c.80C>A(E2)","p.27,T>N","rs11640851",0.47,0.47,0.44,0.51,0.49,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MT1A",1,89,"错义",12210,"0.98=49/50","位于基因组单拷贝区域+DNA结构正常",4489,"16q13","NM_005946.2"]
["12308A(99)v26472",189,91,0.48,"12308A","MTAP","chr9:21816758","c.166G>A(E3)","p.56,V>I","rs7023954",0.39,0.45,0.43,0.48,0.44,0.45,"杂合","无关","有rs号，MAF>=5%",18761660,"骨干髓质狭窄伴恶性纤维组织细胞瘤","AD",112250,5,1,3,1,"MTAP",1,160,"错义",12220,"0.49=158/321","位于基因组单拷贝区域+DNA结构正常",4507,"9p21","NM_002451.3"]
["12308A(99)v27214",75,33,0.44,"12308A","MTIF2","chr2:55490819","c.176G>T(E5)","p.59,T>N","rs1056445",0.63,0.67,0.64,0.7,0.68,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MTIF2",1,260,"错义",12220,"0.42=52/123","位于基因组单拷贝区域+DNA结构正常",4528,"2p16.1","NM_001005369.1"]
["12308A(99)v29867",9,9,1,"12308A","MTRNR2L2","chr5:79946776","m.79A>T(E1)","非编码区","rs77957942",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"MTRNR2L2",null,null,"非编码区",14300,"1.00=18/18","位于基因组多拷贝区域+DNA结构正常",100462981,"5q14.1","NM_001190470.1"]
["12308A(99)v28700",149,140,0.94,"12308A","MUC12","chr7:100638828","c.4984C>T(E2)","p.1662,P>S","rs56914801",0.14,0.17,0.19,0.15,0.18,0.16,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,34,0,"MUC12",1,350,"错义",12220,"0.94=233/249","位于基因组多拷贝区域+DNA结构正常",10071,"7q22","NM_001164462.1"]
["12308A(99)v11527",79,57,0.72,"12308A","MUC13","chr3:124646705-124646706","c.185(E2)至c.184(E2):插入AAG","插入非移码","rs10630030",0.99,1,1,1,0.2,1,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,2,0,"MUC13",1,150,"插入非移码",2223,"0.73=64/88","位于基因组单拷贝区域+DNA结构正常",56667,"3q21.2","NM_033049.3"]
["12308A(99)v20357",49,26,0.53,"12308A","MUC16","chr19:9077436","c.10010G>A(E3)","p.3337,S>L","rs1862462",0.25,0.24,0.23,0.25,0.29,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,91,0,"MUC16",1,120,"错义",12220,"0.48=31/64","位于基因组单拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690.2"]
["12308A(99)v20407",56,29,0.52,"12308A","MUC16","chr19:9058624","c.28822G>A(E3)","p.9608,P>S","rs11878666",0.19,0.33,0.32,0.33,0.33,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,91,0,"MUC16",1,120,"错义",12220,"0.50=44/88","位于基因组多拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690.2"]
["12308A(99)v1107",89,12,0.13,"12308A","MUC2","chr11:1093430","c.5246C>A(E31)","p.1749,T>N","rs199573018",0.38,0.38,0.37,0.39,0.12,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,34,0,"MUC2",0.98,66,"错义",12230,"0.16=22/138","位于基因组多拷贝区域+DNA结构正常",4583,"11p15.5","NM_002457.2"]
["12308A(99)v17589",190,148,0.78,"12308A","MUC20","chr3:195451881","c.302G>A(E1)","p.101,R>K","rs146888306",0.78,0.8,0.84,0.76,0.75,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"MUC20",1,150,"错义",12220,"0.75=258/344","位于基因组多拷贝区域+DNA结构正常",200958,"3q29","NM_001098516.1"]
["12308A(99)v5615",49,12,0.24,"12308A","MUC4","chr3:195513345","c.5106A>C(E2)","p.1702,V>V","rs71321841",{"$nulls":4},0.42,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,105,0,"MUC4",0.99,76,"同义",13303,"0.24=22/93","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12308A(99)v5665",28,5,0.18,"12308A","MUC4","chr3:195506917","c.11534A>C(E2)","p.3845,I>S","rs150128295",0.15,0.017,0.019,0.015,0.37,0.031,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,105,0,"MUC4",0.99,76,"错义",12220,"0.17=8/47","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12308A(99)v5679",52,8,0.15,"12308A","MUC4","chr3:195511877","c.6574G>A(E2)","p.2192,P>S","rs55824312",{"$nulls":4},0.39,0.14,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,105,0,"MUC4",0.99,76,"错义",12320,"0.15=13/88","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12308A(99)v26172",342,76,0.22,"12308A","MUC6","chr11:1017084","c.5717G>A(E31)","p.1906,P>L","rs34649796",{"$nulls":4},0.5,0.49,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,26,0,"MUC6",0.98,170,"错义",12320,"0.22=121/559","位于基因组多拷贝区域+DNA结构正常",4588,"11p15.5","NM_005961.2"]
["12308A(99)v26187",387,212,0.55,"12308A","MUC6","chr11:1017029","c.5772T>G(E31)","p.1924,S>S","rs35621365",{"$nulls":4},0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,26,0,"MUC6",0.98,170,"同义",13303,"0.54=318/592","位于基因组多拷贝区域+DNA结构正常",4588,"11p15.5","NM_005961.2"]
["12308A(99)v16736",13,6,0.46,"12308A","MUTYH","chr1:45797505","c.972C>G(E12)","p.324,Q>H","rs3219489",0.31,0.41,0.38,0.44,0.32,0.43,"杂合","无关","有rs号，MAF>=5%","16465622;18547414;18823566;19443904;19536092;19781088;20149637;21195504;22466227;22469746;22641385","胃癌",null,613659,5,2,1,3,"MUTYH",1,52,"错义",12220,"0.48=11/23","位于基因组单拷贝区域+DNA结构正常",4595,"1p34.1","NM_001048171.1"]
["12308A(99)v28587",62,20,0.32,"12308A","MYBPH","chr1:203137784-203137785","m.1496(E10)至m.1495(E10):插入CT","非编码区","rs35823777",0.72,0.42,0.44,0.39,0.09,0.48,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"MYBPH",1,51,"非编码区",2420,"0.30=21/71","位于基因组单拷贝区域+DNA结构正常",4608,"1q32.1","NM_004997.2"]
["12308A(99)v17091",99,49,0.49,"12308A","MYCBPAP","chr17:48595988","c.684G>C(E5)","p.228,E>D","rs8064455",0.26,0.041,0.033,0.049,0.059,0.05,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MYCBPAP",1,96,"错义",12220,"0.52=88/169","位于基因组单拷贝区域+DNA结构正常",84073,"17q21.33","NM_032133.4"]
["12308A(99)v5086",32,11,0.34,"12308A","MYH3","chr17:10536018","c.4731G>A(E34)","p.1577,I>I","rs2285479",0.47,0.38,0.38,0.39,0.31,0.36,"杂合","无关","有rs号，MAF>=5%",null,"远端关节弯曲综合征2A","AD",193700,5,1,9,2,"MYH3",1,140,"同义",13203,"0.30=13/44","位于基因组单拷贝区域+DNA结构正常",4621,"17p13.1","NM_002470.3"]
["12308A(99)v19387",30,30,1,"12308A","MYH4","chr17:10355371","c.3625C>T(E27)","p.1209,E>K","rs11651295",0.51,0.88,0.9,0.85,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MYH4",1,220,"错义",12210,"0.98=59/60","位于基因组多拷贝区域+DNA结构正常",4622,"17p13.1","NM_017533.2"]
["12308A(99)v15636",15,6,0.4,"12308A","MYH7B","chr20:33581955","c.2577G>A(E27)","p.859,A>A","rs2425012",0.4,0.55,0.51,0.58,0.51,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"MYH7B",0.99,33,"同义",13203,"0.43=10/23","位于基因组单拷贝区域+DNA结构正常",57644,"20q11.22","NM_020884.3"]
["12308A(99)v28206",24,23,0.96,"12308A","MYH9","chr22:36708084","IVS14+10C>T","非编码区","rs2413396",0.76,0.92,0.91,0.92,0.9,0.89,"纯合","无关","有rs号，MAF>=5%",null,"巨血小板减少症和渐进神经性耳聋","AD",600208,5,1,5,6,"MYH9",1,51,"非编码区",16203,"0.97=32/33","位于基因组单拷贝区域+DNA结构正常",4627,"22q13.1","NM_002473.4"]
["12308A(99)v20810",114,111,0.97,"12308A","MYO10","chr5:16769273","c.970G>A(E10)","p.324,R>W","rs11750538",0.48,0.56,0.58,0.54,0.52,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MYO10",1,130,"错义",12210,"0.98=191/195","位于基因组单拷贝区域+DNA结构正常",4651,"5p15.1-p14.3","NM_012334.2"]
["12308A(99)v7769",20,20,1,"12308A","MYO18B","chr22:26173661","c.1981T>C(E8)","p.661,W>R","rs5761170",0.93,0.85,0.87,0.83,0.84,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"MYO18B",1,68,"错义",12220,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",84700,"22q12.1","NM_032608.5"]
["12308A(99)v16668",16,1,0.06,"12308A","MYO5C","chr15:52497076","c.4806T>G(E38)","p.1602,K>N",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"MYO5C",0.99,180,"错义",12410,"0.12=4/33","位于基因组单拷贝区域+DNA结构正常",55930,"15q21","NM_018728.3"]
["12308A(99)v21805",4,4,1,"12308A","MYO7B","chr2:128394955","c.6314A>G(E47)","p.2105,Q>R","rs11686946",0.21,0.22,0.26,0.18,0.19,0.26,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"MYO7B",1,50,"错义",12210,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",4648,"2q21.1","NM_001080527.1"]
["12308A(99)v20189",87,36,0.41,"12308A","MYOM1","chr18:3176040","c.1022C>G(E6)","p.341,G>A","rs8099021",0.76,0.76,0.8,0.72,0.72,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MYOM1",1,190,"错义",12220,"0.46=70/152","位于基因组单拷贝区域+DNA结构正常",8736,"18p11.31","NM_003803.3"]
["12308A(99)v18541",16,16,1,"12308A","MYT1L","chr2:1926437","c.1104G>T(E10)","p.368,P>P","rs1529667",0.99,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MYT1L",1,120,"同义",13203,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",23040,"2p25.3","NM_015025.2"]
["12308A(99)v9526",89,89,1,"12308A","NACA","chr12:57114307","c.1007A>T(E3)","p.336,V>E","rs2958127",0.61,0.77,0.77,0.78,0.79,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NACA",1,120,"错义",12220,"1.00=137/137","位于基因组单拷贝区域+DNA结构正常",4666,"12q23-q24.1","NM_001113203.2"]
["12308A(99)v19062",17,12,0.71,"12308A","NADK","chr1:1684472","c.1212C>T(E12)","p.404,P>P","rs7407",0.34,0.31,0.29,0.33,0.29,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NADK",0.75,28,"同义",13203,"0.71=20/28","位于基因组单拷贝区域+DNA结构正常",65220,"1p36.33","NM_001198993.1"]
["12308A(99)v25107",80,51,0.64,"12308A","NAIP","chr5:70308251","c.492C>T(E4)","p.164,A>A","rs28409706",0.87,0.91,0.89,0.93,0.9,0.9,"杂合","无关","有rs号，MAF>=5%",19515250,{"$nulls":3},5,null,1,0,"NAIP",1,140,"同义",13203,"0.66=91/137","位于基因组单拷贝区域+DNA结构正常",4671,"5q13.2","NM_004536.2"]
["12308A(99)v9442",46,46,1,"12308A","NAV2","chr11:20124914","c.6339A>C(E33)","p.2113,G>G","rs2243411",0.92,0.94,0.96,0.93,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"NAV2",1,94,"同义",13203,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",89797,"11p15.1","NM_001111018.1"]
["12308A(99)v14080",25,13,0.52,"12308A","NBEAL2","chr3:47045739","c.6054C>G(E37)","p.2018,P>P","rs1079276",0.47,0.53,0.55,0.51,0.55,0.54,"杂合","无关","有rs号，MAF>=5%",null,"灰色血小板综合征/出血性疾病，血小板4型","AR",139090,5,3,3,1,"NBEAL2",0.95,29,"同义",13203,"0.50=17/34","位于基因组单拷贝区域+DNA结构正常",23218,"3p21.31","NM_015175.2"]
["12308A(99)v3518",368,86,0.23,"12308A","NBPF14","chr1:148017629","c.654C>T(E6)","p.218,Q>Q","rs79250984",{"$nulls":5},0.017,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"NBPF14",1,480,"同义",13303,"0.25=187/737","位于基因组多拷贝区域+DNA结构正常",25832,"1q21.1","NM_015383.1"]
["12308A(99)v15432",54,54,1,"12308A","NBPF9","chr1:144811836","c.94G>A(E1)","p.32,G>R","rs320820",0.91,0.99,0.99,0.99,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"NBPF9",1,200,"错义",12230,"1.00=61/61","位于基因组多拷贝区域+DNA结构正常",400818,"1q21.1","NM_001037675.2"]
["12308A(99)v9471",15,7,0.47,"12308A","NCKAP5L","chr12:50189602","c.2041A>G(E8)","p.681,S>P","rs3813526",0.28,0.52,0.51,0.52,0.48,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NCKAP5L",0.95,13,"错义",12220,"0.48=10/21","位于基因组单拷贝区域+DNA结构正常",57701,"12q13.12","NM_001037806.3"]
["12308A(99)v8937",70,34,0.49,"12308A","NDNF","chr4:121958091","c.1035T>G(E4)","p.345,L>L","rs3733558",0.43,0.66,0.66,0.67,0.64,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"NDNF",1,140,"同义",13203,"0.43=43/100","位于基因组单拷贝区域+DNA结构正常",79625,"4q27","NM_024574.3"]
["12308A(99)v8941",68,38,0.56,"12308A","NDNF","chr4:121958691","c.435T>C(E4)","p.145,L>L","rs3733559",0.23,0.24,0.25,0.22,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"NDNF",1,140,"同义",13203,"0.60=71/118","位于基因组单拷贝区域+DNA结构正常",79625,"4q27","NM_024574.3"]
["12308A(99)v589",210,208,0.99,"12308A","NDUFS4","chr5:52942197","c.312A>G(E3)","p.104,R>R","rs31303",0.8,0.79,0.81,0.76,0.75,0.76,"纯合","无关","有rs号，MAF>=5%","16436204;17601350","Leigh综合征","AR",256000,5,1,5,2,"NDUFS4",1,310,"同义",13203,"0.99=375/378","位于基因组单拷贝区域+DNA结构正常",4724,"5q11.1","NM_002495.2"]
["12308A(99)v21859",149,2,0.01,"12308A","NEB","chr2:152394756-152394759","c.20895(E139)至IVS138-1:缺失TAGC","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"2型杆状体肌病","AR",256030,1,3,23,1,"NEB",1,260,"缺失移码",2140,"0.01=2/170","位于基因组单拷贝区域+DNA结构正常",4703,"2q22","NM_001164507.1"]
["12308A(99)v21350",84,84,1,"12308A","NEK1","chr4:170315496","m.4604C>T(E36)","非编码区","rs4692721",0.91,0.81,0.81,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",null,"短肋多指(趾)畸形综合征II型","AR",263520,5,1,1,1,"NEK1",0.98,270,"非编码区",14200,"1.00=103/103","位于基因组单拷贝区域+DNA结构正常",4750,"4q33","NM_001199397.1"]
["12308A(99)v4346",66,40,0.61,"12308A","NEK4","chr3:52797634","c.406G>C(E4)","p.136,P>A","rs1029871",0.31,0.47,0.44,0.5,0.44,0.43,"杂合","无关","有rs号，MAF>=5%",19416921,{"$nulls":3},5,null,3,0,"NEK4",0.95,200,"错义",12210,"0.61=55/90","位于基因组单拷贝区域+DNA结构正常",6787,"3p21.1","NM_001193533.1"]
["12308A(99)v29537",27,9,0.33,"12308A","NFAM1","chr22:42781071","m.947G>A(E6)","非编码区","rs12484478",0.16,0.24,0.25,0.23,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NFAM1",1,41,"非编码区",14200,"0.37=11/30","位于基因组单拷贝区域+DNA结构正常",150372,"22q13.2","NM_145912.5"]
["12308A(99)v19512",22,9,0.41,"12308A","NFKBIA","chr14:35871093","m.1190C>T(E6)","非编码区","rs696",0.46,0.39,0.39,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",null,"常显性无汗性外胚层发育不良伴T细胞缺乏","AD",612132,5,1,3,1,"NFKBIA",0.97,66,"非编码区",14200,"0.36=9/25","位于基因组单拷贝区域+DNA结构正常",4792,"14q13","NM_020529.2"]
["12308A(99)v4209",57,57,1,"12308A","NGRN","chr15:90809633","IVS2+3G>A","剪切位点","rs9635390",0.92,0.83,0.86,0.81,0.82,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NGRN",1,55,"剪切位点",16202,"1.00=94/94","位于基因组单拷贝区域+DNA结构正常",51335,"15q26.1","NM_001033088.1"]
["12308A(99)v1652",47,28,0.6,"12308A","NIPA2","chr15:23006707","c.597C>A(E7)","p.199,L>L","rs3812922",0.063,0.22,0.24,0.2,0.22,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NIPA2",1,190,"同义",13203,"0.55=36/65","位于基因组多拷贝区域+DNA结构正常",81614,"15q11.2","NM_001008860.2"]
["12308A(99)v26138",10,1,0.1,"12308A","NKAIN4","chr20:61872804","m.762C>A(E7)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"NKAIN4",0.85,32,"非编码区",14400,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",128414,"20q13.33","NM_152864.3"]
["12308A(99)v20988",79,78,0.99,"12308A","NLRP13","chr19:56424443","c.740T>C(E5)","p.247,Q>R","rs303997",0.66,0.73,0.75,0.71,0.71,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"NLRP13",1,150,"错义",12220,"0.99=122/123","位于基因组单拷贝区域+DNA结构正常",126204,"19q13.43","NM_176810.2"]
["12308A(99)v30163",60,31,0.52,"12308A","NLRP2","chr19:55494881","c.1815C>G(E6)","p.605,L>L","rs11672113",0.27,0.23,0.23,0.23,0.25,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"NLRP2",1,110,"同义",13203,"0.44=39/89","位于基因组单拷贝区域+DNA结构正常",55655,"19q13.42","NM_001174081.1"]
["12308A(99)v19076",38,38,1,"12308A","NLRP8","chr19:56459614","c.346G>C(E1)","p.116,V>L","rs306506",0.73,0.81,0.78,0.83,0.82,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"NLRP8",1,130,"错义",12220,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",126205,"19q13.43","NM_176811.2"]
["12308A(99)v29071",21,21,1,"12308A","NOC2L","chr1:888659","c.898T>C(E9)","p.300,I>V","rs3748597",0.92,0.92,0.89,0.95,0.91,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NOC2L",1,49,"错义",12230,"1.00=33/33","位于基因组单拷贝区域+DNA结构正常",26155,"1p36.33","NM_015658.3"]
["12308A(99)v22320",35,35,1,"12308A","NOP56","chr20:2637071","c.1035T>C(E9)","p.345,T>T","rs8958",0.67,0.59,0.6,0.58,0.54,0.61,"纯合","无关","有rs号，MAF>=5%",null,"脊髓小脑性共济失调36型","AD",614153,5,1,3,1,"NOP56",1,100,"同义",13203,"1.00=60/60","位于基因组单拷贝区域+DNA结构正常",10528,"20p13","NM_006392.3"]
["12308A(99)v6814",10,10,1,"12308A","NOS3","chr7:150696111","c.894T>G(E8)","p.298,D>E","rs1799983",0.82,0.86,0.85,0.86,0.77,0.9,"纯合","无关","有rs号，MAF>=5%","15500681;15726497;16820586;17101543;17107626;17404185;17579350;17601350;17605790;17717598;17980690;18069999;18194558;18246059;18279468;18349107;18482449;18513389;18622260;18663495;18676870;18682580;18687083;18698212;18698231;18776599;18805939;18936436;19131662;19132956;19168583;19246226;19263529;19330901;19419976;19435423;19505917;19559392;19587357;19729601;19815736;19960019;20204503;20346360;20367485;20406163;20406466;20409549;20445800;20457799;20565774;20624112;20691505;20811626;21174581;21252862;21291465;21293869;21332392;21577011;21613201;21674837;21703358;21963893;22064666;22207178;22251423;22417945;22588838;22676277;22729570;22865486;22982457;23062210;23107763;23176758;23269619;23276910;23333443;23560644;23563728;23666990;23681449;23775455;24035903;24095258;24213141;24444339;24613192;24756758;24806096;24932102;24940036;24972130","子痫前期/子痫1型","AD",189800,5,1,5,4,"NOS3",0.94,21,"错义",12220,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",4846,"7q36","NM_000603.4"]
["12308A(99)v23742",2,2,1,"12308A","NOTCH1","chr9:139391636","c.6555G>A(E34)","p.2185,D>D","rs2229974",0.7,0.94,0.94,0.95,0.84,0.95,"纯合","无关","有rs号，MAF>=5%",null,"主动脉瓣疾病1型","AD",109730,5,1,12,2,"NOTCH1",0.82,8.3,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",4851,"9q34.3","NM_017617.3"]
["12308A(99)v7718",20,20,1,"12308A","NOTCH3","chr19:15295134","c.2538G>A(E16)","p.846,C>C","rs1043996",0.52,0.58,0.62,0.53,0.47,0.61,"纯合","无关","有rs号，MAF>=5%",null,"常显遗传脑动脉病及动脉硬化伴皮质下梗死及白质脑病","AD",125310,5,1,8,2,"NOTCH3",0.86,15,"同义",13203,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",4854,"19p13.2-p13.1","NM_000435.2"]
["12308A(99)v12942",8,6,0.75,"12308A","NPAP1","chr15:24921771","c.757G>C(E1)","p.253,G>R","rs1563102",0.27,0.5,0.48,0.52,0.38,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NPAP1",1,83,"错义",12210,"0.75=6/8","位于基因组单拷贝区域+DNA结构正常",23742,"15q11-q13","NM_018958.2"]
["12308A(99)v16678",132,75,0.57,"12308A","NPIPL2","chr16:74425358","c.718G>A(E10)","p.240,A>T","rs6564065",0.51,0.56,0.52,0.61,0.64,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NPIPL2",0.88,330,"错义",12230,"0.53=102/192","位于基因组多拷贝区域+DNA结构正常",440348,"16q23.1","XM_003118720.3"]
["12308A(99)v25840",120,120,1,"12308A","NR3C2","chr4:149356516","c.1497A>G(E2)","p.499,D>D","rs5525",0.89,0.85,0.86,0.85,0.83,0.86,"纯合","无关","有rs号，MAF>=5%","18227835;21112363","原发性高血压",null,605115,5,1,3,2,"NR3C2",1,140,"同义",13203,"1.00=179/179","位于基因组单拷贝区域+DNA结构正常",4306,"4q31.1","NM_000901.4"]
["12308A(99)v17349",21,11,0.52,"12308A","NRAP","chr10:115350597","c.4696G>A(E40)","p.1566,R>C","rs1885434",0.36,0.33,0.36,0.3,0.33,0.3,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,17,0,"NRAP",1,160,"错义",12210,"0.41=14/34","位于基因组单拷贝区域+DNA结构正常",4892,"10q24-q26","NM_001261463.1"]
["12308A(99)v15609",235,121,0.51,"12308A","NRG1","chr8:32453358","c.50G>A(E2)","p.17,R>Q","rs3924999",0.39,0.78,0.79,0.76,0.78,0.78,"杂合","无关","有rs号，MAF>=5%","12874607;16219117;17598910;17631867;18478032;19199244;19394386;19521112;19545856;20182055;20497232;21035784;21745728;22467496;23360725;23489597;24976857","精神分裂症6型",null,603013,5,2,1,1,"NRG1",0.9,130,"错义",12220,"0.53=207/393","位于基因组单拷贝区域+DNA结构正常",3084,"8p12","NM_001159995.1"]
["12308A(99)v2842",7,2,0.29,"12308A","NSFL1C","chr20:1424303","m.2078G>A(E10)","非编码区","rs6891",0.48,0.82,0.81,0.83,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NSFL1C",0.9,130,"非编码区",14200,"0.33=3/9","位于基因组多拷贝区域+DNA结构正常",55968,"20p13","NM_001206736.1"]
["12308A(99)v29742",276,4,0.01,"12308A","NSUN2","chr5:6610040-6610041","IVS10-5至IVS10-6:缺失AT","非编码区",{"$nulls":5},0.0048,0.00072,"杂合","无关","内含子突变",null,"常染色体隐性遗传智力迟滞5型","AR",611091,5,3,4,1,"NSUN2",1,180,"非编码区",2500,"0.01=4/314","位于基因组单拷贝区域+简单重复结构",54888,"5p15.31","NM_001193455.1"]
["12308A(99)v9102",6,1,0.17,"12308A","NUAK1","chr12:106532302","c.130G>T(E1)","p.44,R>R",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"NUAK1",1,60,"同义",13403,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",9891,"12q23.3","NM_014840.2"]
["12308A(99)v28458",12,12,1,"12308A","NUDT18","chr8:21965113","c.672T>C(E3)","p.224,L>L","rs3739435",0.55,0.6,0.58,0.63,0.54,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NUDT18",0.83,23,"同义",13203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",79873,"8p21.3","NM_024815.3"]
["12308A(99)v31444",34,34,1,"12308A","NUP43","chr6:150067675","m.14A>G(E1)","非编码区","rs10872646",0.54,0.82,0.84,0.8,null,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NUP43",1,220,"非编码区",14200,"1.00=52/52","位于基因组单拷贝区域+DNA结构正常",348995,"6q25.1","NM_198887.1"]
["12308A(99)v29855",119,67,0.56,"12308A","NUP98","chr11:3714489","c.4284C>T(E27)","p.1428,A>A","rs1875",0.28,0.3,0.32,0.28,0.25,0.31,"杂合","无关","有rs号，MAF>=5%",16839189,{"$nulls":3},5,null,1,0,"NUP98",1,190,"同义",13203,"0.56=106/189","位于基因组单拷贝区域+DNA结构正常",4928,"11p15.5","NM_016320.4"]
["12308A(99)v19868",85,85,1,"12308A","NYAP2","chr2:226491770","c.1756A>C(E5)","p.586,T>P","rs3748993",0.93,0.85,0.86,0.85,0.82,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NYAP2",1,77,"错义",12220,"1.00=155/155","位于基因组单拷贝区域+DNA结构正常",57624,"2q36.3","NM_020864.1"]
["12308A(99)v29140",9,4,0.44,"12308A","OBSCN","chr1:228505727","c.13984C>T(E53)","p.4662,R>C","rs3795800",0.086,0.35,0.37,0.33,0.28,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,37,0,"OBSCN",0.94,22,"错义",12210,"0.42=5/12","位于基因组单拷贝区域+DNA结构正常",84033,"1q42.13","NM_001098623.2"]
["12308A(99)v29166",46,26,0.57,"12308A","OBSCN","chr1:228480282","c.10662A>G(E40)","p.3554,T>T","rs1150908",0.7,0.71,0.74,0.67,0.64,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,37,0,"OBSCN",0.94,22,"同义",13203,"0.50=36/72","位于基因组多拷贝区域+DNA结构正常",84033,"1q42.13","NM_001098623.2"]
["12308A(99)v15667",2,2,1,"12308A","OGDHL","chr10:50943068","m.3210T>C(E22)","非编码区","rs13736",null,0.88,0.86,0.91,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"OGDHL",1,48,"非编码区",14300,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",55753,"10q11.23","NM_001143996.1"]
["12308A(99)v9047",134,64,0.48,"12308A","OPA1","chr3:193364872","c.1608A>C(E17)","p.536,A>A","rs78767626",0.027,0.026,0.038,0.015,0.027,0.027,"杂合","未知","预测范围之外的同义突变",null,"视神经萎缩1型,伴耳聋、眼肌瘫痪、肌病、运动失调和神经疾病","AD",125250,4,1,7,3,"OPA1",1,300,"同义",13103,"0.47=105/223","位于基因组单拷贝区域+DNA结构正常",4976,"3q28-q29","NM_015560.2"]
["12308A(99)v14899",81,81,1,"12308A","OPRM1","chr6:154428702","m.1504A>G(E4)","非编码区","rs650245",0.89,0.97,0.98,0.96,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OPRM1",1,130,"非编码区",14200,"1.00=130/130","位于基因组多拷贝区域+DNA结构正常",4988,"6q24-q25","NM_001145286.1"]
["12308A(99)v355",150,74,0.49,"12308A","OR10A2","chr11:6891113","c.128A>G(E1)","p.43,H>R","rs3930075",0.32,0.29,0.27,0.32,0.28,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR10A2",1,170,"错义",12210,"0.48=126/264","位于基因组多拷贝区域+DNA结构正常",341276,"11p15.4","NM_001004460.1"]
["12308A(99)v9736",37,15,0.41,"12308A","OR10H2","chr19:15839365","c.512C>T(E1)","p.171,S>F","rs1806931",0.2,0.56,0.6,0.51,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR10H2",1,85,"错义",12210,"0.43=23/54","位于基因组多拷贝区域+DNA结构正常",26538,"19p13.1","NM_013939.2"]
["12308A(99)v30673",122,39,0.32,"12308A","OR11G2","chr14:20666175-20666176","c.681(E1)至c.682(E1):插入A","插入移码","rs398102302",{"$nulls":4},0.085,0.51,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,3,0,"OR11G2",1,100,"插入移码",2130,"0.30=42/142","位于基因组多拷贝区域+简单重复结构",390439,"14q11.2","NM_001005503.1"]
["12308A(99)v26239",82,38,0.46,"12308A","OR14I1","chr1:248845411","c.195G>A(E1)","p.65,S>S","rs11485825",0.77,0.85,0.84,0.87,0.82,0.83,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"OR14I1",1,97,"同义",13203,"0.45=52/115","位于基因组单拷贝区域+DNA结构正常",401994,"1q44","NM_001004734.1"]
["12308A(99)v8867",49,49,1,"12308A","OR1I1","chr19:15198851","c.975A>T(E1)","p.325,P>P","rs16980313",0.18,0.2,0.27,0.13,0.19,0.28,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"OR1I1",1,110,"同义",13203,"1.00=78/78","位于基因组单拷贝区域+DNA结构正常",126370,"19p13.12","NM_001004713.1"]
["12308A(99)v19115",82,78,0.95,"12308A","OR2A1","chr7:144015434","c.217A>G(E1)","p.73,T>A","rs141871720",0.9,1,1,1,0.85,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR2A1",1,160,"错义",12220,"0.96=117/122","位于基因组多拷贝区域+DNA结构正常",346528,"7q35","NM_001005287.1"]
["12308A(99)v17999",72,37,0.51,"12308A","OR2AG1","chr11:6806496","c.228T>C(E1)","p.76,V>V","rs11041022",0.19,0.19,0.16,0.22,0.2,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR2AG1",1,140,"同义",13203,"0.57=58/102","位于基因组多拷贝区域+DNA结构正常",144125,"11p15.4","NM_001004489.2"]
["12308A(99)v13774",53,53,1,"12308A","OR2D2","chr11:6913127","c.605A>G(E1)","p.202,M>T","rs2741804",0.38,0.43,0.42,0.44,0.43,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR2D2",1,75,"错义",12210,"1.00=75/75","位于基因组单拷贝区域+DNA结构正常",120776,"11p15.4","NM_003700.1"]
["12308A(99)v13005",130,130,1,"12308A","OR2T27","chr1:248814080","c.106A>C(E1)","p.36,L>V","rs1782242",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"OR2T27",1,100,"错义",12220,"1.00=204/205","位于基因组多拷贝区域+DNA结构正常",403239,"1q44","NM_001001824.1"]
["12308A(99)v3966",133,38,0.29,"12308A","OR2T33","chr1:248436809","c.308G>A(E1)","p.103,P>L","rs61832700",{"$nulls":4},0.33,0.37,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"OR2T33",1,270,"错义",12320,"0.32=68/210","位于基因组多拷贝区域+DNA结构正常",391195,"1q44","NM_001004695.1"]
["12308A(99)v22888",35,15,0.43,"12308A","OR4C15","chr11:55322211","c.429A>G(E1)","p.143,K>K","rs9804659",0.25,0.38,0.36,0.4,0.33,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR4C15",1,120,"同义",13203,"0.46=24/52","位于基因组单拷贝区域+DNA结构正常",81309,"11q11","NM_001001920.1"]
["12308A(99)v2356",69,32,0.46,"12308A","OR4C3","chr11:48347419","c.927A>G(E1)","p.309,P>P","rs73465913",{"$nulls":4},0.45,0.48,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"OR4C3",1,150,"同义",13303,"0.46=44/96","位于基因组单拷贝区域+DNA结构正常",256144,"11p11.2","NM_001004702.1"]
["12308A(99)v26876",29,10,0.34,"12308A","OR51E2","chr11:4703420","c.522C>T(E2)","p.174,S>S","rs7939559",0.084,0.15,0.15,0.15,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"OR51E2",1,95,"同义",13203,"0.31=15/49","位于基因组单拷贝区域+DNA结构正常",81285,"11p15","NM_030774.3"]
["12308A(99)v4323",60,60,1,"12308A","OR51Q1","chr11:5443867","c.437C>T(E1)","p.146,T>I","rs10838092",0.45,0.73,0.75,0.7,0.71,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"OR51Q1",1,110,"错义",12220,"1.00=104/104","位于基因组单拷贝区域+DNA结构正常",390061,"11p15.4","NM_001004757.2"]
["12308A(99)v24781",98,49,0.5,"12308A","OR52E2","chr11:5080068","c.790G>A(E1)","p.264,R>C","rs2500052",0.51,0.27,0.22,0.33,0.29,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR52E2",1,140,"错义",12210,"0.53=85/160","位于基因组多拷贝区域+DNA结构正常",119678,"11p15.4","NM_001005164.2"]
["12308A(99)v19732",53,52,0.98,"12308A","OR52L1","chr11:6007680","c.481A>G(E1)","p.161,C>R","rs4436524",null,0.87,0.87,0.86,0.89,0.87,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"OR52L1",1,100,"错义",12320,"0.99=72/73","位于基因组多拷贝区域+DNA结构正常",338751,"11p15.4","NM_001005173.2"]
["12308A(99)v25624",81,37,0.46,"12308A","OR5H14","chr3:97868970","c.741T>A(E1)","p.247,S>S","rs12639519",0.59,0.51,0.53,0.5,0.5,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR5H14",1,220,"同义",13203,"0.42=53/126","位于基因组多拷贝区域+DNA结构正常",403273,"3q12.1","NM_001005514.1"]
["12308A(99)v11254",96,96,1,"12308A","OR5P2","chr11:7817856","c.634C>T(E1)","p.212,V>I","rs78460198",0.24,0.15,0.16,0.14,0.086,0.13,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"OR5P2",1,160,"错义",12220,"0.99=151/152","位于基因组多拷贝区域+DNA结构正常",120065,"11p15.4","NM_153444.1"]
["12308A(99)v25741",52,32,0.62,"12308A","OR5T2","chr11:55999950","c.712G>C(E1)","p.238,L>V","rs12221615",0.1,0.14,0.16,0.12,0.14,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR5T2",1,140,"错义",12220,"0.62=46/74","位于基因组多拷贝区域+DNA结构正常",219464,"11q12.1","NM_001004746.1"]
["12308A(99)v28538",62,62,1,"12308A","OR7A5","chr19:14938616","c.438T>C(E1)","p.146,L>L","rs2190686",0.56,0.7,0.71,0.68,0.7,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR7A5",1,110,"同义",13203,"1.00=107/107","位于基因组多拷贝区域+DNA结构正常",26659,"19p13.1","NM_017506.1"]
["12308A(99)v31505",129,120,0.93,"12308A","OR8B3","chr11:124266912","c.336A>G(E1)","p.112,C>C","rs28398895",0.87,0.86,0.87,0.85,0.84,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR8B3",1,200,"同义",13203,"0.94=179/191","位于基因组多拷贝区域+DNA结构正常",390271,"11q24.2","NM_001005467.1"]
["12308A(99)v19206",103,42,0.41,"12308A","OR8H2","chr11:55873334","c.816A>G(E1)","p.272,Q>Q","rs11227212",0.1,0.17,0.2,0.13,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR8H2",1,190,"同义",13203,"0.34=50/145","位于基因组多拷贝区域+DNA结构正常",390151,"11q12.1","NM_001005200.1"]
["12308A(99)v6684",17,8,0.47,"12308A","OR9Q1","chr11:57947867","m.1267A>G(E3)","非编码区","rs186796470",1.4E-3,0.0048,0.0095,0,null,0.011,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"OR9Q1",1,89,"非编码区",14100,"0.52=11/21","位于基因组单拷贝区域+DNA结构正常",219956,"11q12.1","NM_001005212.3"]
["12308A(99)v5536",24,24,1,"12308A","OSGEPL1","chr2:190611459","m.2243A>G(E9)","非编码区","rs2254167",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OSGEPL1",1,210,"非编码区",14200,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",64172,"2q32.2","NM_022353.2"]
["12308A(99)v9682",52,27,0.52,"12308A","OTOF","chr2:26688572","c.2466G>A(E21)","p.822,R>R","rs80356578",0.025,0.026,0.029,0.024,0.049,0.042,"杂合","未知","预测范围之外的同义突变",16371502,"常染色体隐性遗传耳聋9型","AR",601071,4,3,9,1,"OTOF",1,45,"同义",13103,"0.44=39/88","位于基因组单拷贝区域+DNA结构正常",9381,"2p23.1","NM_004802.3"]
["12308A(99)v8557",76,76,1,"12308A","OTUD4","chr4:146080578-146080578","m.547(E6):缺失T","非编码区","rs35205083",0.2,0.17,0.14,0.2,0.036,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"OTUD4",1,220,"非编码区",2420,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",54726,"4q31.21","NM_017493.6"]
["12308A(99)v30890",94,44,0.47,"12308A","OXNAD1","chr3:16327855","c.190T>G(E5)","p.64,S>A","rs842274",0.43,0.49,0.5,0.47,0.49,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OXNAD1",1,190,"错义",12220,"0.47=69/147","位于基因组单拷贝区域+DNA结构正常",92106,"3p25-p24","NM_138381.3"]
["12308A(99)v29005",268,2,0.01,"12308A","P2RY12","chr3:151055936-151055936","c.698(E3):缺失T","缺失移码",{"$nulls":5},0,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"P2RY12缺陷性出血性疾病/出血性疾病，血小板8型","AR",609821,1,3,3,1,"P2RY12",1,170,"缺失移码",2140,"0.01=2/287","位于基因组单拷贝区域+简单重复结构",64805,"3q24-q25","NM_022788.3"]
["12308A(99)v31053",6,2,0.33,"12308A","PADI6","chr1:17728072","m.2224G>A(E16)","非编码区","rs34167614",0.22,0.38,0.4,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PADI6",1,92,"非编码区",14200,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",353238,"1p36.13","NM_207421.3"]
["12308A(99)v11266",26,17,0.65,"12308A","PALD1","chr10:72289701","c.345G>A(E4)","p.115,V>V","rs2275059",0.22,0.49,0.52,0.45,0.42,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PALD1",0.99,32,"同义",13203,"0.70=23/33","位于基因组单拷贝区域+DNA结构正常",27143,"10q22.1","NM_014431.2"]
["12308A(99)v31451",38,24,0.63,"12308A","PARD3B","chr2:205912403","c.494T>C(E4)","p.165,L>P","rs1510765",0.54,0.49,0.53,0.45,0.49,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PARD3B",0.98,190,"错义",12220,"0.65=33/51","位于基因组单拷贝区域+DNA结构正常",117583,"2q33.3","NM_057177.6"]
["12308A(99)v13893",85,41,0.48,"12308A","PARP1","chr1:226580021","IVS2-6G>T","剪切位点","rs1805405",0.26,0.31,0.3,0.31,null,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PARP1",1,120,"剪切位点",16201,"0.46=63/136","位于基因组单拷贝区域+DNA结构正常",142,"1q41-q42","NM_001618.3"]
["12308A(99)v19786",24,14,0.58,"12308A","PASK","chr2:242062162","c.3057C>T(E12)","p.1019,K>K","rs2302050",0.29,0.44,0.4,0.48,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PASK",1,63,"同义",13203,"0.50=20/40","位于基因组单拷贝区域+DNA结构正常",23178,"2q37.3","NM_001252119.1"]
["12308A(99)v15318",6,6,1,"12308A","PAX3","chr2:223161889","c.129A>G(E2)","p.43,G>G","rs12623857",0.9,1,1,1,0.89,1,"纯合","无关","有rs号，MAF>=5%",null,"横纹肌肉瘤2型","AR",268220,5,1,3,4,"PAX3",0.99,120,"同义",13203,"1.00=11/11","位于基因组多拷贝区域+DNA结构正常",5077,"2q35","NM_000438.5"]
["12308A(99)v25341",121,50,0.41,"12308A","PCDH15","chr10:55955610","c.1153C>T(E12)","p.385,G>S","rs10825269",0.24,0.11,0.11,0.1,0.084,0.093,"杂合","无关","有rs号，MAF>=5%",19816713,"常染色体隐性遗传耳聋23型","AR",609533,5,3,8,3,"PCDH15",1,200,"错义",12220,"0.39=78/200","位于基因组单拷贝区域+DNA结构正常",65217,"10q21.1","NM_001142763.1"]
["12308A(99)v25346",94,60,0.64,"12308A","PCDH15","chr10:55955444","c.1319T>G(E12)","p.440,D>A","rs4935502",0.35,0.83,0.81,0.85,0.85,0.84,"杂合","无关","有rs号，MAF>=5%","16385451;19816713","尤塞氏综合症ID型","AR",601067,5,3,8,3,"PCDH15",1,200,"错义",12210,"0.63=100/159","位于基因组单拷贝区域+DNA结构正常",65217,"10q21.1","NM_001142763.1"]
["12308A(99)v22186",18,7,0.39,"12308A","PCDHA10","chr5:140236950","c.1317C>G(E1)","p.439,S>R","rs251362",0.47,0.41,0.36,0.46,0.42,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PCDHA10",1,82,"错义",12210,"0.50=14/28","位于基因组多拷贝区域+DNA结构正常",56139,"5q31","NM_018901.2"]
["12308A(99)v15903",5,5,1,"12308A","PCDHB15","chr5:140626767","c.1621C>T(E1)","p.541,L>L","rs3096081",0.22,0.075,0.081,0.068,0.1,0.088,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PCDHB15",1,64,"同义",13203,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",56121,"5q31","NM_018935.2"]
["12308A(99)v27243",3,3,1,"12308A","PCDHB5","chr5:140516795","c.1779C>T(E1)","p.593,G>G","rs246726",0.84,0.89,0.92,0.86,0.59,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PCDHB5",0.95,99,"同义",13203,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",26167,"5q31","NM_015669.2"]
["12308A(99)v20509",94,47,0.5,"12308A","PCDHGA7","chr5:140763888","c.1422G>A(E1)","p.474,V>V","rs6883770",0.071,0.038,0.043,0.034,0.046,0.042,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PCDHGA7",1,79,"同义",13203,"0.49=73/148","位于基因组多拷贝区域+DNA结构正常",56108,"5q31","NM_018920.2"]
["12308A(99)v17016",84,45,0.54,"12308A","PCDHGB4","chr5:140767902","c.451C>A(E1)","p.151,R>R","rs67622091",0.072,0.038,0.043,0.034,0.042,0.041,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PCDHGB4",1,84,"同义",13203,"0.56=79/142","位于基因组多拷贝区域+DNA结构正常",8641,"5q31","NM_003736.2"]
["12308A(99)v8045",33,33,1,"12308A","PCNXL3","chr11:65384727","c.348C>T(E3)","p.116,P>P","rs12790427",0.3,0.41,0.4,0.41,0.45,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PCNXL3",1,20,"同义",13203,"1.00=50/50","位于基因组单拷贝区域+DNA结构正常",399909,"11q13.1","NM_032223.2"]
["12308A(99)v30903",16,16,1,"12308A","PDCD11","chr10:105201577","IVS30-6C>T","剪切位点","rs2281860",0.42,0.33,0.34,0.31,null,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PDCD11",1,120,"剪切位点",16202,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",22984,"10q24.33","NM_014976.1"]
["12308A(99)v14129",2,2,1,"12308A","PDE2A","chr11:72288217","m.3100A>G(E30)","非编码区","rs392818",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"PDE2A",0.97,55,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",5138,"11q13.4","NM_001143839.3"]
["12308A(99)v18977",58,18,0.31,"12308A","PDE4DIP","chr1:144952078","m.943C>A(E4)","非编码区","rs71220421",{"$nulls":5},0.5,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,65,0,"PDE4DIP",0.98,210,"非编码区",14300,"0.35=26/75","位于基因组多拷贝区域+DNA结构正常",9659,"1q12","NM_001002810.3"]
["12308A(99)v19029",79,36,0.46,"12308A","PDE4DIP","chr1:144931392","c.317G>A(E1)","p.106,A>V","rs2798893",{"$nulls":4},0.49,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,65,0,"PDE4DIP",0.98,210,"错义",12320,"0.48=62/129","位于基因组单拷贝区域+DNA结构正常",9659,"1q12","NM_001002811.1"]
["12308A(99)v10935",95,95,1,"12308A","PDE6B","chr4:663908","m.2630A>G(E22)","非编码区","rs28675771",0.55,0.44,0.45,0.42,0.43,0.42,"纯合","无关","有rs号，MAF>=5%",null,"显性遗传先天性静止性夜盲症2型","AD",163500,5,1,3,2,"PDE6B",1,46,"非编码区",14200,"1.00=174/174","位于基因组单拷贝区域+DNA结构正常",5158,"4p16.3","NM_000283.3"]
["12308A(99)v8406",1,1,1,"12308A","PDIA3","chr15:44064515","m.2765C>G(E13)","非编码区","rs77470049",0.0058,0.029,0.043,0.015,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"PDIA3",0.98,200,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",2923,"15q15","NM_005313.4"]
["12308A(99)v12002",40,40,1,"12308A","PDLIM5","chr4:95539267","c.706G>A(E8)","p.236,A>T","rs966845",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PDLIM5",0.82,140,"错义",12230,"1.00=73/73","位于基因组单拷贝区域+DNA结构正常",10611,"4q22","NM_001011513.3"]
["12308A(99)v22600",59,58,0.98,"12308A","PDZD8","chr10:119042761","m.3682C>T(E5)","非编码区","rs363293",0.95,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PDZD8",0.98,130,"非编码区",14200,"0.99=104/105","位于基因组单拷贝区域+DNA结构正常",118987,"10q26.12","NM_173791.3"]
["12308A(99)v8144",58,28,0.48,"12308A","PEBP4","chr8:22571018","c.549A>G(E7)","p.183,R>R","rs1047398",0.29,0.31,0.33,0.3,0.31,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PEBP4",1,100,"同义",13203,"0.49=48/97","位于基因组单拷贝区域+DNA结构正常",157310,"8p21.3","NM_144962.2"]
["12308A(99)v21637",50,12,0.24,"12308A","PER3","chr1:7890055","c.3021T>A(E18)","p.1007,A>A","rs11121034",{"$nulls":4},0.17,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"PER3",1,140,"同义",13303,"0.28=23/83","位于基因组单拷贝区域+DNA结构正常",8863,"1p36.23","NM_016831.1"]
["12308A(99)v5549",74,74,1,"12308A","PFKM","chr12:48501161","c.5A>T(E2)","p.2,H>L","rs11609399",0.36,0.61,0.64,0.57,0.51,0.59,"纯合","无关","有rs号，MAF>=5%",null,"糖原累积症VII（果糖磷酸激酶缺陷）/Tarui病","AR",232800,5,1,1,1,"PFKM",1,160,"错义",12220,"1.00=131/131","位于基因组单拷贝区域+DNA结构正常",5213,"12q13.3","NM_001166686.1"]
["12308A(99)v15954",7,4,0.57,"12308A","PFKP","chr10:3172121","c.1770C>T(E19)","p.590,A>A","rs1052333",0.41,0.36,0.35,0.38,0.29,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PFKP",0.92,80,"同义",13203,"0.50=6/12","位于基因组单拷贝区域+DNA结构正常",5214,"10p15.3-p15.2","NM_001242339.1"]
["12308A(99)v19781",13,13,1,"12308A","PHF11","chr13:50102992","m.1524T>C(E10)","非编码区","rs3033",0.42,0.45,0.45,0.45,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IgE反应,遗传性过敏症","AD",147050,5,1,3,2,"PHF11",0.91,250,"非编码区",14200,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",51131,"13q14.2","NM_001040443.1"]
["12308A(99)v19783",98,98,1,"12308A","PHF11","chr13:50102810","m.1342G>A(E10)","非编码区","rs1046295",0.42,0.45,0.45,0.45,0.39,0.48,"纯合","无关","有rs号，MAF>=5%",null,"哮喘，易感","AD",600807,5,1,3,2,"PHF11",0.91,250,"非编码区",14200,"1.00=155/155","位于基因组单拷贝区域+DNA结构正常",51131,"13q14.2","NM_001040443.1"]
["12308A(99)v29713",19,10,0.53,"12308A","PHLDB1","chr11:118514625","c.2985C>T(E14)","p.995,S>S","rs11216938",0.22,0.26,0.28,0.24,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PHLDB1",0.98,47,"同义",13203,"0.50=13/26","位于基因组单拷贝区域+DNA结构正常",23187,"11q23.3","NM_001144758.2"]
["12308A(99)v4496",147,63,0.43,"12308A","PIBF1","chr13:73369642","c.499A>G(E4)","p.167,I>V","rs1372000",0.33,0.35,0.41,0.29,0.25,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PIBF1",1,300,"错义",12220,"0.45=113/249","位于基因组单拷贝区域+DNA结构正常",10464,"13q22.1","NM_006346.2"]
["12308A(99)v24941",170,2,0.01,"12308A","PIEZO2","chr18:10857068-10857069","c.634(E6)至c.633(E6):缺失TG","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"远端关节弯曲5型","AD",108145,1,1,9,3,"PIEZO2",1,180,"缺失移码",2140,"0.01=2/185","位于基因组单拷贝区域+DNA结构正常",63895,"18p11.22","NM_022068.2"]
["12308A(99)v9966",104,104,1,"12308A","PIGB","chr15:55632859","c.896G>T(E8)","p.299,W>L","rs678892",null,0.75,0.72,0.78,0.73,0.76,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"PIGB",1,220,"错义",12320,"1.00=172/172","位于基因组单拷贝区域+DNA结构正常",9488,"15q21.3","NM_004855.4"]
["12308A(99)v4622",22,22,1,"12308A","PIH1D1","chr19:49954807","c.25T>G(E1)","p.9,M>L","rs2293012",0.61,0.42,0.44,0.39,0.35,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PIH1D1",1,64,"错义",12220,"0.97=38/39","位于基因组单拷贝区域+DNA结构正常",55011,"19q13.33","NM_017916.2"]
["12308A(99)v9596",2,2,1,"12308A","PIM3","chr22:50356693","c.899T>C(E6)","p.300,V>A","rs4077129",0.73,0.81,0.82,0.8,0.57,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PIM3",0.59,3.6,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",415116,"22q13","NM_001001852.3"]
["12308A(99)v6413",76,76,1,"12308A","PION","chr7:76984572","c.1296G>A(E16)","p.432,C>C","rs2037753",0.53,0.46,0.48,0.43,0.47,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PION",0.96,260,"同义",13203,"1.00=113/113","位于基因组单拷贝区域+DNA结构正常",54103,"7q11.23","NM_017439.3"]
["12308A(99)v20714",73,73,1,"12308A","PIWIL1","chr12:130841638","c.1580G>A(E13)","p.527,R>K","rs1106042",0.088,0.11,0.095,0.12,0.098,0.13,"纯合","无关","有rs号，MAF>=5%","19047128;19138993",{"$nulls":3},5,null,2,0,"PIWIL1",1,230,"错义",12220,"1.00=116/116","位于基因组单拷贝区域+DNA结构正常",9271,"12q24.33","NM_001190971.1"]
["12308A(99)v4922",52,29,0.56,"12308A","PKD1L2","chr16:81193358","c.3765C>G(E23)","p.1255,L>F","rs59878884",0.069,0.07,0.052,0.087,0.046,0.067,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,43,0,"PKD1L2",1,78,"错义",12220,"0.54=45/83","位于基因组单拷贝区域+DNA结构正常",114780,"16q23.2","NM_052892.3"]
["12308A(99)v26726",53,23,0.43,"12308A","PKD1L3","chr16:71983772","c.3528G>C(E21)","p.1176,S>R","rs1035543",0.39,0.66,0.66,0.66,0.63,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"PKD1L3",1,170,"错义",12210,"0.41=32/78","位于基因组单拷贝区域+DNA结构正常",342372,"16q22.2","NM_181536.1"]
["12308A(99)v24657",93,93,1,"12308A","PKHD1","chr6:51924774","c.1185A>G(E15)","p.395,D>D","rs1896976",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性多囊性肾病(婴儿型)","AR",263200,5,1,12,1,"PKHD1",1,170,"同义",13203,"0.99=179/180","位于基因组单拷贝区域+DNA结构正常",5314,"6p12.2","NM_138694.3"]
["12308A(99)v18796",169,89,0.53,"12308A","PKHD1L1","chr8:110437384","c.2768A>G(E24)","p.923,H>R","rs4735133",0.61,0.43,0.45,0.41,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,19,0,"PKHD1L1",1,250,"错义",12220,"0.54=163/301","位于基因组单拷贝区域+DNA结构正常",93035,"8q23","NM_177531.4"]
["12308A(99)v5110",93,92,0.99,"12308A","PLA2G4A","chr1:186946912","c.1952G>A(E16)","p.651,R>K","rs2307198",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PLA2G4A",1,270,"错义",12230,"0.99=142/143","位于基因组单拷贝区域+DNA结构正常",5321,"1q25","NM_024420.2"]
["12308A(99)v26607",269,126,0.47,"12308A","PLA2G7","chr6:46684222","c.275C>T(E4)","p.92,R>H","rs1805017",0.32,0.2,0.22,0.17,0.18,0.19,"杂合","无关","有rs号，MAF>=5%","18204052;20442857;22003152;23404648;24732951","IgE反应,遗传性过敏症","AD",147050,5,1,2,3,"PLA2G7",1,320,"错义",12220,"0.45=218/482","位于基因组单拷贝区域+DNA结构正常",7941,"6p21.2-p12","NM_001168357.1"]
["12308A(99)v6185",35,16,0.46,"12308A","PLCG2","chr16:81971403","c.3093T>C(E28)","p.1031,N>N","rs1071644",0.31,0.38,0.4,0.36,0.38,0.36,"杂合","无关","有rs号，MAF>=5%",null,"（炎症？）和PLCG2相关抗体缺乏与免疫失调","AD",614878,5,1,6,2,"PLCG2",1,130,"同义",13203,"0.45=24/53","位于基因组单拷贝区域+DNA结构正常",5336,"16q24.1","NM_002661.3"]
["12308A(99)v16517",90,90,1,"12308A","PLCL2","chr3:17051328","c.165T>C(E1)","p.55,F>F","rs7653834",0.45,0.55,0.6,0.5,0.49,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PLCL2",1,130,"同义",13203,"1.00=144/144","位于基因组单拷贝区域+DNA结构正常",23228,"3p24.3","NM_001144382.1"]
["12308A(99)v5077",113,52,0.46,"12308A","PLEKHA3","chr2:179358665","c.399A>G(E4)","p.133,T>T","rs2303536",0.3,0.59,0.62,0.56,0.54,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PLEKHA3",1,250,"同义",13203,"0.43=83/192","位于基因组单拷贝区域+DNA结构正常",65977,"2q31.2","NM_019091.3"]
["12308A(99)v2589",15,6,0.4,"12308A","PLEKHH1","chr14:68041061","c.2029G>A(E14)","p.677,G>R","rs61534804",0.11,0.07,0.062,0.078,0.041,0.06,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PLEKHH1",1,77,"错义",12210,"0.41=9/22","位于基因组单拷贝区域+DNA结构正常",57475,"14q24.1","NM_020715.2"]
["12308A(99)v20170",42,23,0.55,"12308A","PLIN4","chr19:4511929","c.2001A>G(E3)","p.667,A>A","rs10424401",0.62,0.68,0.69,0.67,0.63,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,26,0,"PLIN4",0.98,54,"同义",13203,"0.48=30/63","位于基因组多拷贝区域+DNA结构正常",729359,"19p13.3","NM_001080400.1"]
["12308A(99)v28172",170,69,0.41,"12308A","PLSCR2","chr3:146167089","c.768T>A(E8)","p.256,R>S","rs118036548",0.012,0.029,0.019,0.039,0.057,0.043,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"PLSCR2",0.93,290,"错义",12110,"0.41=125/302","位于基因组多拷贝区域+DNA结构正常",57047,"3q24","NM_001199978.1"]
["12308A(99)v9938",2,2,1,"12308A","PLXND1","chr3:129293183","c.2681T>C(E12)","p.894,H>R","rs2625962",0.99,1,1,1,0.74,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PLXND1",0.79,29,"错义",12230,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23129,"3q22.1","NM_015103.2"]
["12308A(99)v27282",10,10,1,"12308A","PMP22","chr17:15134175","m.750T>G(E5)","非编码区","rs13422",0.6,0.6,0.54,0.66,null,0.61,"纯合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症和耳聋","AD",118300,5,1,1,6,"PMP22",1,89,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",5376,"17p12","NM_000304.2"]
["12308A(99)v8000",144,143,0.99,"12308A","PMS2","chr7:6036980","c.780G>C(E7)","p.260,S>S","rs1805319",0.83,0.9,0.88,0.93,0.88,0.92,"纯合","无关","有rs号，MAF>=5%","182681;8993976;15256438;16472587;19132747;20205264","遗传性非息肉性结直肠癌4型（Lynch综合征）",null,614337,5,1,7,2,"PMS2",0.95,180,"同义",13203,"0.98=257/261","位于基因组单拷贝区域+DNA结构正常",5395,"7p22.2","NM_000535.5"]
["12308A(99)v4745",272,131,0.48,"12308A","POC5","chr5:75001582","c.254A>G(E4)","p.85,I>T","rs17672542",0.19,0.35,0.34,0.35,0.4,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"POC5",1,220,"错义",12220,"0.46=231/499","位于基因组单拷贝区域+DNA结构正常",134359,"5q13.3","NM_001099271.1"]
["12308A(99)v31149",1,1,1,"12308A","POFUT1","chr20:30795819","c.75T>C(E1)","p.25,P>P","rs1923095",0.76,1,1,0.99,0.79,1,"纯合","无关","有rs号，MAF>=5%",null,"Dowling-Degos病2型","AD",615327,5,1,1,1,"POFUT1",0.97,83,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23509,"20q11","NM_015352.1"]
["12308A(99)v2236",16,9,0.56,"12308A","POLR1B","chr2:113333410","m.3924C>T(E14)","非编码区","rs10205187",0.2,0.31,0.3,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"POLR1B",1,170,"非编码区",14200,"0.59=13/22","位于基因组单拷贝区域+DNA结构正常",84172,"2q13","NM_001137604.1"]
["12308A(99)v11745",5,3,0.6,"12308A","POLR2E","chr19:1095336","m.56C>T(E1)","非编码区","rs1046041",0.64,0.63,0.57,0.69,0.55,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"POLR2E",1,22,"非编码区",14200,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",5434,"19p13.3","NM_002695.3"]
["12308A(99)v21436",99,99,1,"12308A","POMGNT1","chr1:46655158","c.1867T>C(E21)","p.623,M>V","rs6659553",0.94,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"Walker-Warburg综合征/肌肉-眼-大脑病/肌营养不良-抗肌萎缩相关糖蛋白病（先天性伴有脑发育异常和眼畸形）A型3","AR",253280,5,1,1,3,"POMGNT1",0.91,84,"错义",12230,"1.00=169/169","位于基因组单拷贝区域+DNA结构正常",55624,"1p34.1","NM_001243766.1"]
["12308A(99)v31222",22,22,1,"12308A","POMT2","chr14:77745193","c.1911A>C(E19)","p.637,L>L","rs3209079",0.85,0.96,0.97,0.95,0.92,0.96,"纯合","无关","有rs号，MAF>=5%",null,"肌营养不良-抗肌萎缩相关糖蛋白病（先天性肢带型）C型2","AR",613158,5,1,3,3,"POMT2",0.96,120,"同义",13203,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",29954,"14q24","NM_013382.5"]
["12308A(99)v10427",51,51,1,"12308A","POTEF","chr2:130877752","c.337T>C(E3)","p.113,S>G","rs77273091",{"$nulls":4},0.66,0.54,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,12,0,"POTEF",1,270,"错义",12320,"0.99=84/85","位于基因组多拷贝区域+DNA结构正常",728378,"2q21.1","NM_001099771.2"]
["12308A(99)v6273",58,58,1,"12308A","PPAN","chr19:10218524","c.336C>G(E4)","p.112,V>V","rs2305791",0.27,0.31,0.31,0.31,0.29,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PPAN",0.98,48,"同义",13203,"0.99=97/98","位于基因组单拷贝区域+DNA结构正常",56342,"19p13","NM_020230.5"]
["12308A(99)v7483",74,28,0.38,"12308A","PPFIA4","chr1:203040816","IVS14-4G>C","剪切位点","rs2270540",0.55,0.48,0.5,0.47,0.44,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PPFIA4",1,55,"剪切位点",16202,"0.38=52/136","位于基因组单拷贝区域+DNA结构正常",8497,"1q32.1","NM_015053.1"]
["12308A(99)v388",15,7,0.47,"12308A","PPIL1","chr6:36823502-36823503","m.840(E4)至m.839(E4):插入A","非编码区","rs3216837",0.35,0.44,0.46,0.42,0.033,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"PPIL1",1,110,"非编码区",2420,"0.47=8/17","位于基因组多拷贝区域+DNA结构正常",51645,"6p21.1","NM_016059.4"]
["12308A(99)v5557",6,5,0.83,"12308A","PPP1R26","chr9:138376649","c.293T>C(E4)","p.98,V>A","rs3748192",0.42,0.69,0.72,0.67,0.52,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PPP1R26",0.97,11,"错义",12220,"0.83=5/6","位于基因组多拷贝区域+DNA结构正常",9858,"9q34.3","NM_014811.3"]
["12308A(99)v5233",23,23,1,"12308A","PPP2R5C","chr14:102391577","c.1636G>C(E16)","p.546,A>P","rs3742424",0.18,0.32,0.33,0.32,0.26,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PPP2R5C",1,210,"错义",12220,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",5527,"14q32.31","NM_001161725.1"]
["12308A(99)v5594",97,49,0.51,"12308A","PPT1","chr1:40557075","IVS3-4C>T","剪切位点","rs117284255",0.0096,0.038,0.038,0.039,0.034,0.033,"杂合","未知","剪切位点预测结果为无害",null,"神经元蜡样脂褐质沉积症1型","AR",256730,4,3,3,1,"PPT1",1,180,"剪切位点",16102,"0.51=88/174","位于基因组单拷贝区域+DNA结构正常",5538,"1p32","NM_000310.3"]
["12308A(99)v14789",157,67,0.43,"12308A","PRAMEF18","chr1:13474974","c.1155G>A(E3)","p.385,H>H","rs201607561",0.079,0.29,0.29,0.3,0.25,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PRAMEF18",1,200,"同义",13203,"0.40=94/236","位于基因组多拷贝区域+DNA结构正常",391003,"1p36.21","NM_001099850.1"]
["12308A(99)v19545",42,17,0.4,"12308A","PRB4","chr12:11461292","c.418C>G(E4)","p.140,A>P","rs1052808",0.75,0.78,0.78,0.78,0.77,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PRB4",1,83,"错义",12220,"0.39=24/62","位于基因组多拷贝区域+DNA结构正常",5545,"12p13.2","NM_001261399.1"]
["12308A(99)v336",68,47,0.69,"12308A","PRDM2","chr1:14106394-14106395","c.1501(E3)至c.1502(E3):插入CTC","插入非移码","rs148293494",{"$nulls":4},0.079,0.6,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"PRDM2",1,110,"插入非移码",2232,"0.70=51/73","位于基因组单拷贝区域+DNA结构正常",7799,"1p36.21","NM_001007257.2"]
["12308A(99)v29204",6,6,1,"12308A","PRDX5","chr11:64085785","c.98A>G(E1)","p.33,Y>C","rs7938623",0.94,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRDX5",1,55,"错义",12230,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",25824,"11q13","NM_012094.4"]
["12308A(99)v21686",1,1,1,"12308A","PRKAG2","chr7:151253765","m.2574C>A(E16)","非编码区","rs1051956",0.55,0.73,0.73,0.73,null,null,"纯合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病6型","AD",600858,5,1,3,3,"PRKAG2",0.96,180,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",51422,"7q36.1","NM_001040633.1"]
["12308A(99)v27754",4,4,1,"12308A","PRKCDBP","chr11:6340525","c.654A>T(E2)","p.218,A>A","rs12570",0.65,0.78,0.8,0.75,0.65,0.76,"纯合","无关","有rs号，MAF>=5%",16436204,{"$nulls":3},5,null,2,0,"PRKCDBP",0.7,3,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",112464,"11p15.4","NM_145040.2"]
["12308A(99)v2729",10,6,0.6,"12308A","PRKRIP1","chr7:102065651","m.703C>T(E6)","非编码区","rs1047998",0.19,0.1,0.12,0.078,null,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PRKRIP1",0.85,120,"非编码区",14200,"0.46=6/13","位于基因组单拷贝区域+DNA结构正常",79706,"7q22.1","NM_024653.3"]
["12308A(99)v8179",7,7,1,"12308A","PROP1","chr5:177422908","c.27A>G(E1)","p.9,A>A","rs1135320",0.45,0.58,0.57,0.59,0.57,0.58,"纯合","无关","有rs号，MAF>=5%",null,"联合垂体激素缺陷2型","AR",262600,5,1,3,1,"PROP1",1,43,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",5626,"5q35.3","NM_006261.4"]
["12308A(99)v18291",13,13,1,"12308A","PRPH2","chr6:42666061","c.1013T>C(E3)","p.338,D>G","rs434102",null,0.86,0.87,0.85,0.77,0.86,"纯合","未知","蛋白结构预测结果为容忍或无害",22948568,"白点状视网膜变性","AD,AR",136880,3,1,6,5,"PRPH2",1,51,"错义",12320,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",5961,"6p21.2-p12.3","NM_000322.4"]
["12308A(99)v6228",58,32,0.55,"12308A","PRR21","chr2:240982219","c.181A>G(E1)","p.61,S>P","rs74006013",{"$nulls":4},0.39,4.3E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,9,0,"PRR21",0.93,50,"错义",12320,"0.54=59/109","位于基因组单拷贝区域+DNA结构正常",643905,"2q37.3","NM_001080835.1"]
["12308A(99)v5267",8,1,0.12,"12308A","PRR5-ARHGAP8","chr22:45221397","c.886C>A(E10)","p.296,R>R","rs369660678",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"PRR5-ARHGAP8",0.94,64,"同义",13303,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",553158,"22q13","NM_181334.4"]
["12308A(99)v5826",4,1,0.25,"12308A","PRRT3","chr3:9990815","c.985A>G(E2)","p.329,S>P",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"PRRT3",0.82,12,"错义",12420,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",285368,"3p25.3","NM_207351.3"]
["12308A(99)v21594",81,81,1,"12308A","PRUNE2","chr9:79322674","c.4516A>G(E8)","p.1506,C>R","rs680775",0.79,0.94,0.92,0.95,0.94,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"PRUNE2",1,120,"错义",12220,"1.00=136/136","位于基因组单拷贝区域+DNA结构正常",158471,"9q21.2","NM_015225.2"]
["12308A(99)v27317",155,155,1,"12308A","PSG11","chr19:43519442","c.424T>C(E3)","p.142,N>D","rs10414166",0.86,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PSG11",1,330,"错义",12220,"1.00=263/263","位于基因组多拷贝区域+DNA结构正常",5680,"19q13.2","NM_001113410.1"]
["12308A(99)v28986",20,20,1,"12308A","PSG5","chr19:43690678","m.11G>A(E1)","非编码区","rs12610809",0.21,0.4,0.36,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PSG5",1,340,"非编码区",14200,"1.00=23/23","位于基因组多拷贝区域+DNA结构正常",5673,"19q13.2","NM_001130014.1"]
["12308A(99)v1677",94,94,1,"12308A","PSRC1","chr1:109825360","IVS1-7C>T","剪切位点","rs643457",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PSRC1",0.88,67,"剪切位点",16201,"0.99=155/156","位于基因组单拷贝区域+DNA结构正常",84722,"1p13.3","NM_001005290.3"]
["12308A(99)v31708",12,9,0.75,"12308A","PTCH2","chr1:45293518","c.2055A>G(E14)","p.685,A>A","rs7525308",0.45,0.5,0.47,0.53,0.51,0.48,"杂合","无关","有rs号，MAF>=5%",null,"基底细胞痣综合征","AD",109400,5,1,3,3,"PTCH2",1,30,"同义",13203,"0.75=12/16","位于基因组单拷贝区域+DNA结构正常",8643,"1p34.1","NM_001166292.1"]
["12308A(99)v30595",36,11,0.31,"12308A","PTCHD4","chr6:47846009","m.2605A>G(E3)","非编码区","rs57120046",0.062,0.07,0.076,0.063,null,0.069,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PTCHD4",0.99,95,"非编码区",14200,"0.31=16/51","位于基因组单拷贝区域+DNA结构正常",442213,"6p12.3","NM_001013732.3"]
["12308A(99)v25416",238,123,0.52,"12308A","PTPN14","chr1:214571251","IVS8+5A>C","剪切位点","rs11580603",0.35,0.44,0.4,0.48,0.46,0.44,"杂合","无关","有rs号，MAF>=5%",null,"先天性鼻后孔闭锁伴淋巴水肿","AR",613611,5,3,4,1,"PTPN14",1,110,"剪切位点",16202,"0.51=218/424","位于基因组单拷贝区域+DNA结构正常",5784,"1q32.2","NM_005401.4"]
["12308A(99)v18857",14,14,1,"12308A","PTPN6","chr12:7065635","c.978T>C(E9)","p.326,G>G","rs2110072",null,1,1,1,0.97,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"PTPN6",1,40,"同义",13303,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",5777,"12p13","NM_002831.5"]
["12308A(99)v29753",70,31,0.44,"12308A","PTPRK","chr6:128411109","c.1191C>T(E8)","p.397,K>K","rs79802085",0.015,0.055,0.076,0.034,0.04,0.055,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"PTPRK",1,230,"同义",13103,"0.45=48/107","位于基因组单拷贝区域+DNA结构正常",5796,"6q22.2-q22.3","NM_001135648.1"]
["12308A(99)v16571",1,1,1,"12308A","PTRF","chr17:40554956","m.3145A>G(E2)","非编码区","rs7212299",0.86,0.98,0.99,0.98,null,null,"纯合","无关","有rs号，MAF>=5%",null,"家族全身性脂质营养不良4型","AR",613327,5,1,3,1,"PTRF",0.95,11,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",284119,"17q21.2","NM_012232.5"]
["12308A(99)v14422",143,71,0.5,"12308A","PXDNL","chr8:52396241","c.486T>C(E6)","p.162,P>P","rs7837348",0.23,0.058,0.071,0.044,0.08,0.044,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"PXDNL",0.95,150,"同义",13203,"0.47=116/245","位于基因组单拷贝区域+DNA结构正常",137902,"8q11.22-q11.23","NM_144651.4"]
["12308A(99)v26087",29,29,1,"12308A","PYGB","chr20:25264814","c.1695T>C(E14)","p.565,D>D","rs2227892",0.54,0.94,0.93,0.95,0.92,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PYGB",1,60,"同义",13203,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",5834,"20p11.2-p11.1","NM_002862.3"]
["12308A(99)v13076",84,83,0.99,"12308A","QPCTL","chr19:46205050","IVS4-6T>C","剪切位点","rs4803848",0.75,0.77,0.76,0.78,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"QPCTL",0.85,59,"剪切位点",16202,"0.99=151/152","位于基因组单拷贝区域+DNA结构正常",54814,"19q13.32","NM_001163377.1"]
["12308A(99)v24132",8,1,0.12,"12308A","RAB3IP","chr12:70133444","m.265G>T(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"RAB3IP",1,240,"非编码区",14400,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",117177,"12q14.3","NM_175623.2"]
["12308A(99)v2683",45,44,0.98,"12308A","RAD50","chr5:131892979","m.364G>A(E1)","非编码区","rs4526098",0.92,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"nijmegen断裂综合征样疾病",null,613078,5,1,2,1,"RAD50",1,250,"非编码区",14200,"0.96=79/82","位于基因组单拷贝区域+DNA结构正常",10111,"5q31","NM_005732.3"]
["12308A(99)v7579",93,40,0.43,"12308A","RAET1E","chr6:150211100","c.159T>C(E2)","p.53,E>E","rs3798763",0.22,0.32,0.33,0.32,0.32,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"RAET1E",0.98,110,"同义",13203,"0.45=67/150","位于基因组单拷贝区域+DNA结构正常",135250,"6q25.1","NM_001243325.1"]
["12308A(99)v31060",10,2,0.2,"12308A","RANGRF","chr17:8192319","c.123C>A(E2)","p.41,P>P","rs377717671",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RANGRF",1,61,"同义",13303,"0.23=3/13","位于基因组单拷贝区域+DNA结构正常",29098,"17p13.1","NM_001177801.1"]
["12308A(99)v9636",4,4,1,"12308A","RAPSN","chr11:47460306","c.1143A>G(E7)","p.381,P>P","rs7126210",0.62,0.64,0.66,0.63,0.52,0.62,"纯合","无关","有rs号，MAF>=5%",19060910,"胎儿运动不能畸形序列征(Pena-Shokeir综合征I型)","AR",208150,5,1,2,2,"RAPSN",1,14,"同义",13203,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",5913,"11p11.2","NM_005055.4"]
["12308A(99)v8514",27,13,0.48,"12308A","RASGRF1","chr15:79298523","c.2119G>A(E15)","p.707,L>L","rs894780",0.066,0.1,0.095,0.11,0.14,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RASGRF1",1,79,"同义",13203,"0.53=21/40","位于基因组单拷贝区域+DNA结构正常",5923,"15q24.2","NM_002891.4"]
["12308A(99)v13537",21,11,0.52,"12308A","RBM12B","chr8:94746698","c.1941G>T(E3)","p.647,P>P","rs3133974",0.27,0.35,0.36,0.34,0.33,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RBM12B",1,120,"同义",13203,"0.54=20/37","位于基因组单拷贝区域+DNA结构正常",389677,"8q22.1","NM_203390.2"]
["12308A(99)v20451",72,71,0.99,"12308A","RBM23","chr14:23374435","c.594G>A(E8)","p.198,I>I","rs2295680",0.52,0.77,0.8,0.74,0.77,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RBM23",1,130,"同义",13203,"0.98=106/108","位于基因组单拷贝区域+DNA结构正常",55147,"14q11.2","NM_001077351.1"]
["12308A(99)v26780",84,84,1,"12308A","RC3H2","chr9:125652757","c.417G>A(E4)","p.139,N>N","rs10818759",0.33,0.66,0.62,0.69,0.66,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RC3H2",1,190,"同义",13203,"1.00=141/141","位于基因组单拷贝区域+DNA结构正常",54542,"9q34","NM_001100588.1"]
["12308A(99)v3801",112,112,1,"12308A","RCN2","chr15:77241568","m.1180T>C(E7)","非编码区","rs1711018",null,0.97,0.98,0.97,null,1,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"RCN2",0.85,170,"非编码区",14300,"0.99=184/185","位于基因组单拷贝区域+DNA结构正常",5955,"15q23","NM_002902.2"]
["12308A(99)v17133",33,33,1,"12308A","RELL1","chr4:37636750","IVS4-5T>G","剪切位点","rs2276943",0.58,0.47,0.46,0.49,null,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RELL1",1,130,"剪切位点",16202,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",768211,"4p14","NM_001085399.1"]
["12308A(99)v20823",7,3,0.43,"12308A","RET","chr10:43622368","m.3575T>A(E19)","非编码区","rs2075913",0.66,0.41,0.42,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",null,"家族性甲状腺髓样癌","AD",155240,5,1,6,7,"RET",0.95,60,"非编码区",14200,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",5979,"10q11.2","NM_020630.4"]
["12308A(99)v13316",9,4,0.44,"12308A","REV1","chr2:100017515-100017518","m.4154(E23)至m.4151(E23):缺失TAAT","非编码区","rs3838583",0.077,0.15,0.13,0.17,null,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,5,0,"REV1",1,230,"非编码区",2420,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",51455,"2q11.1-q11.2","NM_001037872.1"]
["12308A(99)v6077",58,58,1,"12308A","RFWD3","chr16:74670458","c.1212C>T(E8)","p.404,T>T","rs4888262",0.66,0.79,0.79,0.79,0.72,0.76,"纯合","无关","有rs号，MAF>=5%",23666239,{"$nulls":3},5,null,5,0,"RFWD3",1,140,"同义",13203,"1.00=90/90","位于基因组单拷贝区域+DNA结构正常",55159,"16q23.1","NM_018124.3"]
["12308A(99)v16471",2,2,1,"12308A","RFX3","chr9:3247690","m.2622C>T(E16)","非编码区","rs675234",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RFX3",1,200,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",5991,"9p24.2","NM_002919.2"]
["12308A(99)v3040",116,48,0.41,"12308A","RGS12","chr4:3344680","c.1898G>A(E3)","p.633,R>Q","rs61748736",0.044,0.026,0.029,0.024,0.016,0.03,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"RGS12",1,61,"错义",12120,"0.41=82/201","位于基因组单拷贝区域+DNA结构正常",6002,"4p16.3","NM_002926.3"]
["12308A(99)v20239",10,10,1,"12308A","RGS3","chr9:116356373","c.174G>C(E1)","p.58,L>L","rs12350531",0.74,0.9,0.91,0.89,0.77,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"RGS3",0.99,67,"同义",13203,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",5998,"9q32","NM_144489.2"]
["12308A(99)v31115",145,145,1,"12308A","RHOBTB3","chr5:95084131","c.510G>A(E4)","p.170,A>A","rs34896",0.45,0.69,0.69,0.68,0.76,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RHOBTB3",1,230,"同义",13203,"0.99=274/277","位于基因组单拷贝区域+DNA结构正常",22836,"5q15","NM_014899.3"]
["12308A(99)v695",137,137,1,"12308A","RICTOR","chr5:38950776","c.3174G>A(E31)","p.1058,S>S","rs2115949",0.95,0.99,0.99,0.99,0.97,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RICTOR",1,300,"同义",13203,"1.00=245/245","位于基因组单拷贝区域+DNA结构正常",253260,"5p13.1","NM_152756.3"]
["12308A(99)v6872",48,48,1,"12308A","RIT1","chr1:155880573","c.31C>G(E2)","p.11,E>Q","rs493446",0.78,0.92,0.93,0.91,null,0.94,"纯合","无关","有rs号，MAF>=5%",null,"Noonan综合征8型","AD",615355,5,1,2,1,"RIT1",1,230,"错义",12220,"1.00=68/68","位于基因组单拷贝区域+DNA结构正常",6016,"1q22","NM_001256821.1"]
["12308A(99)v22701",84,84,1,"12308A","RNASEL","chr1:182551337","c.1623A>C(E4)","p.541,D>E","rs627928",0.48,0.71,0.7,0.73,0.7,0.72,"纯合","无关","有rs号，MAF>=5%","18575592;19567509","遗传性前列腺癌1型","AD",601518,5,1,2,1,"RNASEL",1,140,"错义",12220,"1.00=152/152","位于基因组单拷贝区域+DNA结构正常",6041,"1q25","NM_021133.3"]
["12308A(99)v15308",5,2,0.4,"12308A","RNF149","chr2:101893504","m.1527T>G(E7)","非编码区","rs181729936",0.0002,0.0024,0,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"RNF149",1,140,"非编码区",14100,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",284996,"2q11.2","NM_173647.3"]
["12308A(99)v20060",10,10,1,"12308A","RNF170","chr8:42705702","m.1082T>C(E6)","非编码区","rs6474422",0.79,0.74,0.72,0.77,null,null,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传感觉性共济失调1型","AD",608984,5,1,1,1,"RNF170",1,280,"非编码区",14200,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",81790,"8p11.21","NM_001160224.1"]
["12308A(99)v27152",74,74,1,"12308A","RNF8","chr6:37348920","IVS6-6C>T","剪切位点","rs2284923",0.6,0.78,0.76,0.8,null,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RNF8",1,160,"剪切位点",16202,"1.00=113/113","位于基因组单拷贝区域+DNA结构正常",9025,"6p21.3","NM_003958.3"]
["12308A(99)v10976",8,1,0.12,"12308A","ROBO3","chr11:124735481","c.8G>A(E1)","p.3,R>H",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"先天性水平注视麻痹合并脊柱侧凸","AR",607313,3,3,3,1,"ROBO3",0.89,52,"错义",12420,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",64221,"11q24.2","NM_022370.3"]
["12308A(99)v443",7,7,1,"12308A","ROR2","chr9:94485928","m.3047C>T(E9)","非编码区","rs2230578",0.76,0.91,0.94,0.88,null,0.93,"纯合","无关","有rs号，MAF>=5%",null,"短指症B1型","AD",113000,5,1,4,2,"ROR2",0.94,45,"非编码区",14200,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",4920,"9q22","NM_004560.3"]
["12308A(99)v23333",53,52,0.98,"12308A","RPGR","chrX:38144856","c.3396G>A(E15)","p.1132,N>N","rs12687163",null,0.59,0.56,0.62,0.57,0.59,"纯合","未知","预测范围之外的同义突变",null,"视网膜色素变性3型-XR/15型",null,300029,4,1,2,4,"RPGR",0.93,110,"同义",13303,"0.99=80/81","位于基因组单拷贝区域+DNA结构正常",6103,"Xp21.1","NM_001034853.1"]
["12308A(99)v3740",2,2,1,"12308A","RPL14","chr3:40498933","m.104A>G(E1)","非编码区","rs4973904",0.97,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RPL14",1,140,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",9045,"3p22-p21.2","NM_001034996.2"]
["12308A(99)v1843",179,179,1,"12308A","RPS6KA2","chr6:167271716","c.95T>C(E2)","p.32,E>G","rs9347162",0.61,0.89,0.92,0.86,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"RPS6KA2",1,120,"错义",12220,"1.00=323/323","位于基因组单拷贝区域+DNA结构正常",6196,"6q27","NM_001006932.1"]
["12308A(99)v10888",1,1,1,"12308A","RPS6KL1","chr14:75388803","m.343G>A(E1)","非编码区","rs7158047",0.66,0.77,0.74,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RPS6KL1",0.93,30,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",83694,"14q24.3","NM_031464.4"]
["12308A(99)v22961",8,8,1,"12308A","RRP12","chr10:99160965","c.24A>G(E1)","p.8,P>P","rs2275091",0.93,0.9,0.88,0.93,0.84,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RRP12",1,50,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",23223,"10q24.1","NM_001145114.1"]
["12308A(99)v16978",13,13,1,"12308A","RTEL1","chr20:62320968","c.1992T>C(E23)","p.664,D>D","rs6062302",0.72,0.27,0.27,0.27,0.24,0.29,"纯合","无关","有rs号，MAF>=5%",null,"先天性角化不良4型/5型","AR",615190,5,1,10,1,"RTEL1",1,32,"同义",13203,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",51750,"20q13.3","NM_016434.3"]
["12308A(99)v25588",1,1,1,"12308A","RUNDC1","chr17:41133071","c.478T>C(E1)","p.160,W>R","rs1708875",0.93,1,1,1,0.61,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RUNDC1",0.83,60,"错义",12230,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",146923,"17q21.31","NM_173079.2"]
["12308A(99)v24556",2,1,0.5,"12308A","RYR1","chr19:38985158","c.6441C>T(E39)","p.2147,S>S",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"恶性高热易感1","AD",145600,4,1,11,3,"RYR1",0.95,52,"同义",13403,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",6261,"19q13.1","NM_000540.2"]
["12308A(99)v14711",60,34,0.57,"12308A","RYR2","chr1:237996002","m.15079T>C(E105)","非编码区","rs192720264",0.0022,0.0048,0.0095,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"致心律失常性右室发育不良2","AD",600996,3,1,9,2,"RYR2",1,200,"非编码区",14100,"0.59=53/90","位于基因组单拷贝区域+DNA结构正常",6262,"1q43","NM_001035.2"]
["12308A(99)v6782",109,53,0.49,"12308A","S100A7L2","chr1:153410822","c.17C>A(E2)","p.6,G>V","rs10888561",0.61,0.55,0.55,0.55,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"S100A7L2",1,230,"错义",12220,"0.51=98/194","位于基因组多拷贝区域+DNA结构正常",645922,"1q21.3","NM_001045479.1"]
["12308A(99)v83",54,53,0.98,"12308A","SALL1","chr16:51171175","c.3532C>T(E3)","p.1178,V>I","rs4614723",0.99,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",18280297,"Townes-Brocks 综合征","AD",107480,5,1,2,1,"SALL1",1,62,"错义",12220,"0.97=95/98","位于基因组多拷贝区域+DNA结构正常",6299,"16q12.1","NM_001127892.1"]
["12308A(99)v10830",6,4,0.67,"12308A","SART1","chr11:65746653","m.2647A>G(E20)","非编码区","rs679581",0.41,0.5,0.5,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SART1",1,39,"非编码区",14200,"0.67=4/6","位于基因组单拷贝区域+DNA结构正常",9092,"11q13.1","NM_005146.4"]
["12308A(99)v15457",13,13,1,"12308A","SBK2","chr19:56047448","c.214A>G(E2)","p.72,C>R","rs310453",0.92,0.87,0.83,0.9,0.8,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SBK2",0.44,5.1,"错义",12220,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",646643,"19q13.42","NM_001101401.2"]
["12308A(99)v28871",11,11,1,"12308A","SCGN","chr6:25701691","m.1162C>G(E11)","非编码区","rs6928384",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SCGN",1,220,"非编码区",14200,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",10590,"6p22.3-p22.1","NM_006998.3"]
["12308A(99)v24847",1,1,1,"12308A","SCN1A","chr2:166847034","m.6769T>C(E26)","非编码区","rs4667859",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"癫痫伴热性惊厥附加症2型(伴热性惊厥的全面性癫痫2型)/家族性热性惊厥3A型","AD",604403,5,1,4,3,"SCN1A",1,250,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",6323,"2q24.3","NM_001165963.1"]
["12308A(99)v10761",42,41,0.98,"12308A","SCN1B","chr19:35524939","c.744C>A(E3)","p.248,S>R","rs67701503",0.13,0.16,0.17,0.15,0.19,0.2,"纯合","无关","有rs号，MAF>=5%",null,"癫痫伴热性惊厥附加症1型(伴热性惊厥的全面性癫痫1型)","AD",604233,5,1,5,3,"SCN1B",0.96,43,"错义",12220,"0.98=64/65","位于基因组单拷贝区域+DNA结构正常",6324,"19q13.1","NM_199037.3"]
["12308A(99)v15779",34,18,0.53,"12308A","SCN5A","chr3:38592406","c.5454A>G(E28)","p.1818,D>D","rs1805126",0.49,0.57,0.58,0.56,0.53,0.55,"杂合","无关","有rs号，MAF>=5%","17534376;18368697;23463857;24987407","扩张性心肌病1E型","AD",601154,5,1,3,8,"SCN5A",0.99,80,"同义",13203,"0.56=24/43","位于基因组单拷贝区域+DNA结构正常",6331,"3p21","NM_000335.4"]
["12308A(99)v7930",101,44,0.44,"12308A","SCN9A","chr2:167145142","c.1119A>G(E10)","p.373,A>A","rs13414203",0.35,0.24,0.22,0.26,0.25,0.32,"杂合","无关","有rs号，MAF>=5%",null,"癫痫伴热性惊厥附加症7型(伴热性惊厥的全面性癫痫7型)/家族性热性惊厥3B型","AD",613863,5,1,8,5,"SCN9A",1,250,"同义",13203,"0.40=59/146","位于基因组单拷贝区域+DNA结构正常",6335,"2q24","NM_002977.3"]
["12308A(99)v20959",10,5,0.5,"12308A","SCNN1D","chr1:1222267","c.1031G>C(E8)","p.344,R>P","rs11260579",0.3,0.58,0.62,0.54,0.45,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SCNN1D",0.78,6.6,"错义",12220,"0.50=7/14","位于基因组单拷贝区域+DNA结构正常",6339,"1p36.3-p36.2","NM_001130413.3"]
["12308A(99)v26855",18,18,1,"12308A","SCO2","chr22:50962208","c.633T>G(E2)","p.211,A>A","rs12148",0.66,0.7,0.67,0.74,0.75,0.7,"纯合","无关","有rs号，MAF>=5%",null,"近视6型","AD",608908,5,1,2,2,"SCO2",0.97,13,"同义",13203,"1.00=33/33","位于基因组单拷贝区域+DNA结构正常",9997,"22q13.33","NM_001169109.1"]
["12308A(99)v20112",11,10,0.91,"12308A","SDHB","chr1:17380497","c.18G>T(E1)","p.6,A>A","rs2746462",null,1,1,1,0.81,1,"纯合","未知","预测范围之外的同义突变",null,"Cowden综合征2型（多发性错构瘤综合征）",null,612359,4,1,1,5,"SDHB",1,130,"同义",13303,"0.94=16/17","位于基因组单拷贝区域+DNA结构正常",6390,"1p36.1-p35","NM_003000.2"]
["12308A(99)v575",31,10,0.32,"12308A","SEC14L1","chr17:75212488","m.4851G>T(E17)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,9,0,"SEC14L1",1,120,"非编码区",14400,"0.24=12/50","位于基因组多拷贝区域+DNA结构正常",6397,"17q25.2","NM_001143998.1"]
["12308A(99)v683",128,128,1,"12308A","SEC23IP","chr10:121679013","c.1930A>G(E11)","p.644,K>E","rs2475298",0.75,0.83,0.8,0.87,0.79,0.82,"纯合","无关","有rs号，MAF>=5%","16385451;16642439",{"$nulls":3},5,null,1,0,"SEC23IP",1,200,"错义",12220,"0.99=234/236","位于基因组单拷贝区域+DNA结构正常",11196,"10q25-q26","NM_007190.3"]
["12308A(99)v31746",11,11,1,"12308A","SELO","chr22:50655822","m.2092C>T(E9)","非编码区","rs2272853",0.039,0.19,0.18,0.2,null,0.2,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"SELO",0.69,15,"非编码区",14100,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",83642,"22q13.33","NM_031454.1"]
["12308A(99)v23552",88,43,0.49,"12308A","SEPHS2","chr16:30455945","c.1104A>C(E1)","p.368,A>A","rs146596728",0.005,0.019,0.0095,0.029,0.037,0.029,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"SEPHS2",0.87,75,"同义",13103,"0.48=62/130","位于基因组多拷贝区域+DNA结构正常",22928,"16p11.2","NM_012248.2"]
["12308A(99)v30866",80,79,0.99,"12308A","SEPT8","chr5:132098242","c.630A>G(E5)","p.210,N>N","rs30510",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SEPT8",0.98,65,"同义",13203,"0.99=127/128","位于基因组单拷贝区域+DNA结构正常",23176,"5q31","NM_001098811.1"]
["12308A(99)v26628",49,25,0.51,"12308A","SERPINA9","chr14:94929367","m.1232G>T(E6)","非编码区","rs2295652",0.19,0.3,0.27,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SERPINA9",1,120,"非编码区",14200,"0.54=41/76","位于基因组单拷贝区域+DNA结构正常",327657,"14q32.13","NM_001042518.1"]
["12308A(99)v238",68,25,0.37,"12308A","SERPINF1","chr17:1674429","c.390T>C(E4)","p.130,T>T","rs8074840",0.3,0.38,0.41,0.36,0.29,0.37,"杂合","无关","有rs号，MAF>=5%",19503741,"成骨不全6型",null,613982,5,2,3,1,"SERPINF1",1,94,"同义",13203,"0.36=42/117","位于基因组单拷贝区域+DNA结构正常",5176,"17p13.3","NM_002615.5"]
["12308A(99)v24815",70,23,0.33,"12308A","SETD8","chr12:123892235","c.1044G>A(E8)","p.348,P>P","rs61955128",0.0052,0.0048,0.0048,0.0049,0.4,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"SETD8",0.88,160,"同义",13103,"0.30=35/115","位于基因组多拷贝区域+DNA结构正常",387893,"12q24.31","NM_020382.3"]
["12308A(99)v11144",80,43,0.54,"12308A","SEZ6L","chr22:26702015","c.1419A>C(E6)","p.473,T>T","rs1210894",0.36,0.099,0.11,0.087,0.11,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SEZ6L",0.97,85,"同义",13203,"0.53=69/131","位于基因组单拷贝区域+DNA结构正常",23544,"22q12.1","NM_001184773.1"]
["12308A(99)v5461",12,1,0.08,"12308A","SFN","chr1:27190351","c.648C>T(E1)","p.216,S>S",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"SFN",1,24,"同义",13403,"0.11=2/19","位于基因组单拷贝区域+DNA结构正常",2810,"1p36.11","NM_006142.3"]
["12308A(99)v13079",173,82,0.47,"12308A","SGOL1","chr3:20212189","m.1746A>G(E8)","非编码区","rs1052930",0.82,0.97,0.97,0.98,null,0.96,"杂合","无关","有rs号，MAF>=5%",null,"慢性心房和肠道节律紊乱","AR",616201,5,3,1,1,"SGOL1",1,230,"非编码区",14200,"0.52=157/302","位于基因组单拷贝区域+DNA结构正常",151648,"3p24.3","NM_001012409.2"]
["12308A(99)v18602",7,7,1,"12308A","SGTA","chr19:2762585","c.555A>C(E7)","p.185,A>A","rs2302491",0.48,0.64,0.7,0.59,0.6,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SGTA",1,36,"同义",13203,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",6449,"19p13","NM_003021.3"]
["12308A(99)v2244",1,1,1,"12308A","SH3PXD2B","chr5:171764214","m.4066G>A(E13)","非编码区","rs7701410",0.14,0.087,0.062,0.11,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Frank-ter Haar综合征","AD",249420,5,1,4,1,"SH3PXD2B",0.97,57,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",285590,"5q35.1","NM_001017995.2"]
["12308A(99)v29278",5,5,1,"12308A","SH3TC1","chr4:8228894","c.1473T>C(E12)","p.491,D>D","rs1292647",0.97,1,1,1,0.85,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"SH3TC1",0.95,23,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",54436,"4p16.1","NM_018986.3"]
["12308A(99)v10064",3,1,0.33,"12308A","SHC2","chr19:419041","c.1636C>T(E12)","p.546,V>M",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"SHC2",0.72,11,"错义",12420,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",25759,"19p13.3","NM_012435.2"]
["12308A(99)v19797",77,77,1,"12308A","SI","chr3:164714532","c.4569C>T(E39)","p.1523,M>I","rs4855271",0.91,0.94,0.95,0.93,0.88,0.92,"纯合","无关","有rs号，MAF>=5%",null,"先天性蔗糖不耐受/先天性蔗糖-异麦芽糖酶缺乏症","AR",222900,5,1,7,1,"SI",1,320,"错义",12220,"1.00=121/121","位于基因组单拷贝区域+DNA结构正常",6476,"3q25.2-q26.2","NM_001041.3"]
["12308A(99)v6037",11,11,1,"12308A","SIGIRR","chr11:406473","c.945A>C(E9)","p.315,P>P","rs3087588",0.91,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SIGIRR",0.79,24,"同义",13203,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",59307,"11p15.5","NM_001135053.1"]
["12308A(99)v15330",9,1,0.11,"12308A","SIK3","chr11:116730024","c.2404G>T(E19)","p.802,P>T",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"SIK3",0.97,110,"错义",12410,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",23387,"11q23.3","NM_025164.3"]
["12308A(99)v1261",89,42,0.47,"12308A","SIRPG","chr20:1616892","c.690A>G(E3)","p.230,H>H","rs2277760",0.35,0.64,0.64,0.65,0.61,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"SIRPG",1,180,"同义",13203,"0.43=61/141","位于基因组多拷贝区域+DNA结构正常",55423,"20p13","NM_001039508.1"]
["12308A(99)v87",27,12,0.44,"12308A","SLC10A7","chr4:147177468","m.1452T>G(E12)","非编码区","rs11930848",0.35,0.29,0.25,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLC10A7",1,280,"非编码区",14200,"0.47=14/30","位于基因组单拷贝区域+DNA结构正常",84068,"4q31.22","NM_001029998.3"]
["12308A(99)v18216",18,18,1,"12308A","SLC12A3","chr16:56917953","IVS13-8T>C","剪切位点","rs2304483",0.57,0.62,0.62,0.61,0.59,0.59,"纯合","无关","有rs号，MAF>=5%",null,"巴特综合征变异型（Gitelman's综合征）","AR",263800,5,1,8,1,"SLC12A3",1,64,"剪切位点",16202,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",6559,"16q13","NM_000339.2"]
["12308A(99)v1660",46,46,1,"12308A","SLC14A2","chr18:43206985","c.394A>G(E5)","p.132,I>V","rs1484873",0.89,0.85,0.83,0.86,0.84,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SLC14A2",1,150,"错义",12220,"0.99=88/89","位于基因组单拷贝区域+DNA结构正常",8170,"18q12.1-q21.1","NM_001242692.1"]
["12308A(99)v28084",1,1,1,"12308A","SLC16A12","chr10:91190929","m.3744C>T(E8)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",null,"青少年型白内障合并小角膜、糖尿",null,612018,3,1,2,1,"SLC16A12",1,140,"非编码区",14400,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",387700,"10q23.31","NM_213606.3"]
["12308A(99)v21070",8,1,0.12,"12308A","SLC22A1","chr6:160543207","c.240G>T(E1)","p.80,A>A","rs199642943",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"SLC22A1",1,100,"同义",13303,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",6580,"6q25.3","NM_003057.2"]
["12308A(99)v8811",64,64,1,"12308A","SLC22A16","chr6:110778128","c.146T>C(E2)","p.49,H>R","rs714368",0.31,0.45,0.42,0.49,0.41,0.42,"纯合","无关","有rs号，MAF>=5%",24944790,{"$nulls":3},5,null,3,0,"SLC22A16",1,170,"错义",12220,"1.00=95/95","位于基因组单拷贝区域+DNA结构正常",85413,"6q22.1|6q21-q22.1","NM_033125.3"]
["12308A(99)v17788",10,1,0.1,"12308A","SLC23A3","chr2:220034612","c.95G>T(E1)","p.32,S>Y",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"SLC23A3",1,62,"错义",12410,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",151295,"2q35","NM_001144889.1"]
["12308A(99)v2673",69,30,0.43,"12308A","SLC24A4","chr14:92958522","c.1654A>C(E16)","p.552,K>Q","rs45587635",0.067,0.21,0.22,0.19,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",null,"皮肤/头发/眼睛色素沉着6型","AR",210750,5,3,7,2,"SLC24A4",0.98,110,"错义",12220,"0.44=56/128","位于基因组单拷贝区域+DNA结构正常",123041,"14q32.12","NM_153646.3"]
["12308A(99)v24444",10,2,0.2,"12308A","SLC25A35","chr17:8192319","m.1548C>A(E6)","非编码区","rs377717671",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"SLC25A35",1,53,"非编码区",14300,"0.23=3/13","位于基因组单拷贝区域+DNA结构正常",399512,"17p13.1","NM_201520.1"]
["12308A(99)v25927",31,14,0.45,"12308A","SLC27A6","chr5:128301824","m.612T>A(E1)","非编码区","rs2526246",0.19,0.06,0.057,0.063,null,0.066,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLC27A6",1,190,"非编码区",14200,"0.41=19/46","位于基因组单拷贝区域+DNA结构正常",28965,"5q23.3","NM_001017372.1"]
["12308A(99)v7084",5,2,0.4,"12308A","SLC29A2","chr11:66136063","c.495G>A(E5)","p.165,S>S","rs140044208",{"$nulls":5},0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"SLC29A2",0.99,43,"同义",13303,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",3177,"11q13","NM_001532.2"]
["12308A(99)v20970",3,1,0.33,"12308A","SLC32A1","chr20:37353634","c.267C>T(E1)","p.89,S>S",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"SLC32A1",0.97,8.9,"同义",13403,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",140679,"20q11.23","NM_080552.2"]
["12308A(99)v19077",1,1,1,"12308A","SLC35G2","chr3:136538380","m.520G>T(E1)","非编码区","rs6763369",0.7,0.84,0.82,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLC35G2",1,130,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",80723,"3q22.3","NM_025246.2"]
["12308A(99)v20071",51,31,0.61,"12308A","SLC37A3","chr7:140051063","IVS9+10C>T","非编码区","rs12703774",0.39,0.44,0.45,0.42,null,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC37A3",1,200,"非编码区",16203,"0.59=49/83","位于基因组单拷贝区域+DNA结构正常",84255,"7q34","NM_032295.2"]
["12308A(99)v17184",240,1,0,"12308A","SLC38A9","chr5:54993786-54993786","c.1(E3):缺失T","缺失移码",{"$nulls":7},"杂合","较高","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},1,null,1,0,"SLC38A9",0.98,260,"缺失移码",2740,"0.01=2/270","位于基因组单拷贝区域+简单重复结构",153129,"5q11.2","NM_173514.3"]
["12308A(99)v3931",20,9,0.45,"12308A","SLC44A4","chr6:31839309","c.433C>T(E7)","p.145,V>I","rs2242665",0.62,0.61,0.65,0.57,0.61,0.61,"杂合","无关","有rs号，MAF>=5%",24934404,{"$nulls":3},5,null,2,0,"SLC44A4",0.67,32,"错义",12220,"0.52=17/33","位于基因组单拷贝区域+DNA结构正常",80736,"6p21.3","NM_001178044.1"]
["12308A(99)v14735",3,3,1,"12308A","SLC45A4","chr8:142229891","c.315A>G(E3)","p.105,I>I","rs2304279",0.7,0.81,0.83,0.79,0.66,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"SLC45A4",1,25,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",57210,"8q24.3","NM_001080431.1"]
["12308A(99)v23987",10,1,0.1,"12308A","SLC4A1","chr17:42328587","c.2595G>T(E19)","p.865,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"Waldner血型",null,112010,4,2,4,9,"SLC4A1",1,55,"同义",13403,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",6521,"17q21.31","NM_000342.3"]
["12308A(99)v24130",60,60,1,"12308A","SLC4A8","chr12:51851126","IVS5-9G>A","剪切位点","rs4512904",0.52,0.46,0.48,0.45,null,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLC4A8",0.96,150,"剪切位点",16201,"0.99=102/103","位于基因组单拷贝区域+DNA结构正常",9498,"12q13.13","NM_001039960.2"]
["12308A(99)v27644",123,3,0.02,"12308A","SLC5A11","chr16:24921737-24921739","c.1656(E15)至c.1658(E15):缺失CAG","缺失非移码","rs140499762",{"$nulls":4},0,0.0046,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"SLC5A11",1,95,"缺失非移码",2232,"0.02=3/142","位于基因组单拷贝区域+简单重复结构",115584,"16p12.1","NM_001258411.1"]
["12308A(99)v22491",93,93,1,"12308A","SLC6A5","chr11:20639400","c.1230A>G(E7)","p.410,S>S","rs7925597",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性过度惊吓症3型","AD,AR",614618,5,1,7,1,"SLC6A5",0.99,130,"同义",13203,"1.00=165/165","位于基因组单拷贝区域+DNA结构正常",9152,"11p15.1","NM_004211.3"]
["12308A(99)v10136",142,67,0.47,"12308A","SLC7A13","chr8:87241847","c.660G>A(E1)","p.220,G>G","rs7814198",0.45,0.48,0.46,0.5,0.48,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC7A13",1,190,"同义",13203,"0.48=111/233","位于基因组单拷贝区域+DNA结构正常",157724,"8q21.3","NM_138817.2"]
["12308A(99)v4565",215,100,0.47,"12308A","SLC9C1","chr3:111996554","c.472T>C(E5)","p.158,I>V","rs9828502",0.31,0.3,0.29,0.3,0.32,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"SLC9C1",1,310,"错义",12220,"0.47=173/367","位于基因组单拷贝区域+DNA结构正常",285335,"3q13.2","NM_183061.1"]
["12308A(99)v18010",123,66,0.54,"12308A","SLCO1C1","chr12:20893108","IVS9-10C>T","剪切位点","rs2271656",0.44,0.61,0.6,0.61,null,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SLCO1C1",1,240,"剪切位点",16202,"0.54=102/189","位于基因组单拷贝区域+DNA结构正常",53919,"12p12.2","NM_001145944.1"]
["12308A(99)v23428",7,3,0.43,"12308A","SLFN5","chr17:33593024","m.2910T>C(E5)","非编码区","rs2291190",0.066,0.087,0.081,0.092,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLFN5",1,140,"非编码区",14200,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",162394,"17q12","NM_144975.3"]
["12308A(99)v2443",55,26,0.47,"12308A","SMARCA4","chr19:11105608","c.1524T>C(E10)","p.508,H>H","rs7935",0.31,0.28,0.28,0.28,0.25,0.24,"杂合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神智力发育迟滞16型",null,614609,5,2,2,2,"SMARCA4",0.99,45,"同义",13203,"0.46=42/92","位于基因组单拷贝区域+DNA结构正常",6597,"19p13.2","NM_001128844.1"]
["12308A(99)v25602",81,81,1,"12308A","SMG1","chr16:18823379","c.10692T>C(E61)","p.3564,Q>Q","rs2606556",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SMG1",0.95,170,"同义",13203,"1.00=124/124","位于基因组单拷贝区域+DNA结构正常",23049,"16p12.3","NM_015092.4"]
["12308A(99)v23118",296,2,0.01,"12308A","SMG6","chr17:2148023-2148023","IVS1-10:缺失A","非编码区",{"$nulls":7},"杂合","无关","内含子突变",{"$nulls":4},5,null,10,0,"SMG6",0.98,110,"非编码区",2500,"0.01=2/357","位于基因组单拷贝区域+简单重复结构",23293,"17p13.3","NM_001256827.1"]
["12308A(99)v15172",14,6,0.43,"12308A","SMPDL3B","chr1:28261593","m.90T>C(E1)","非编码区","rs3737809",0.36,0.17,0.14,0.2,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SMPDL3B",1,83,"非编码区",14200,"0.33=6/18","位于基因组单拷贝区域+DNA结构正常",27293,"1p35.3","NM_001009568.1"]
["12308A(99)v18975",12,1,0.08,"12308A","SNAPC2","chr19:7987426","c.782T>A(E5)","p.261,L>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"SNAPC2",0.91,26,"错义",12420,"0.11=2/19","位于基因组单拷贝区域+DNA结构正常",6618,"19p13","NM_003083.3"]
["12308A(99)v31410",80,33,0.41,"12308A","SNRNP40","chr1:31732892","m.1147G>A(E10)","非编码区","rs2292165",0.22,0.23,0.24,0.21,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SNRNP40",1,180,"非编码区",14200,"0.45=69/153","位于基因组多拷贝区域+DNA结构正常",9410,"1p35.2","NM_004814.2"]
["12308A(99)v15803",1,1,1,"12308A","SNX21","chr20:44471016","m.2268T>C(E4)","非编码区","rs197668",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SNX21",0.87,16,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",90203,"20q13.12","NM_001042632.1"]
["12308A(99)v2360",4,1,0.25,"12308A","SNX32","chr11:65621014","m.1547C>A(E13)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"SNX32",1,50,"非编码区",14400,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",254122,"11q13.1","NM_152760.2"]
["12308A(99)v9018",42,27,0.64,"12308A","SORCS2","chr4:7726885","c.2616C>G(E20)","p.872,P>P","rs74684435",1.8E-3,0.0048,0.0048,0.0049,0.014,0.0085,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"SORCS2",0.86,54,"同义",13103,"0.62=49/79","位于基因组单拷贝区域+DNA结构正常",57537,"4p16.1","NM_020777.2"]
["12308A(99)v225",175,174,0.99,"12308A","SORL1","chr11:121403229","c.1653T>C(E12)","p.551,A>A","rs636588",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,1,"SORL1",0.98,130,"同义",13203,"1.00=308/309","位于基因组单拷贝区域+DNA结构正常",6653,"11q23.2-q24.2","NM_003105.5"]
["12308A(99)v29387",136,55,0.4,"12308A","SPACA7","chr13:113052388","c.177A>G(E3)","p.59,L>L","rs2296895",0.67,0.59,0.56,0.61,0.61,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SPACA7",1,180,"同义",13203,"0.41=100/243","位于基因组多拷贝区域+DNA结构正常",122258,"13q34","NM_145248.4"]
["12308A(99)v2180",75,75,1,"12308A","SPANXN5","chrX:52825471","m.276A>G(E2)","非编码区","rs2806837",null,1,1,1,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"SPANXN5",1,200,"非编码区",14300,"1.00=130/130","位于基因组多拷贝区域+DNA结构正常",494197,"Xp11.22","NM_001009616.2"]
["12308A(99)v19430",6,6,1,"12308A","SPATA31D3","chr9:84564152","m.4070C>T(E4)","非编码区","rs641486",0.92,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SPATA31D3",1,320,"非编码区",14200,"1.00=9/9","位于基因组多拷贝区域+DNA结构正常",null,null,"NM_207416.2"]
["12308A(99)v15309",20,7,0.35,"12308A","SPCS2","chr11:74660292","m.1A>G(E1)","非编码区","rs643807",0.28,0.21,0.19,0.24,null,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SPCS2",1,200,"非编码区",14200,"0.32=9/28","位于基因组单拷贝区域+DNA结构正常",9789,"11q13.4","NM_014752.2"]
["12308A(99)v18057",20,20,1,"12308A","SPEG","chr2:220315970","c.2226G>A(E5)","p.742,K>K","rs10932806",0.43,0.69,0.69,0.69,0.64,0.67,"纯合","无关","有rs号，MAF>=5%",null,"中央核肌病5型","AR",615959,5,1,5,1,"SPEG",0.76,22,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",10290,"2q35","NM_005876.4"]
["12308A(99)v24150",6,1,0.17,"12308A","SPN","chr16:29676244","c.1195G>A(E2)","p.399,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"SPN",0.96,52,"错义",12420,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",6693,"16p11.2","NM_001030288.2"]
["12308A(99)v24405",229,100,0.44,"12308A","SPPL3","chr12:121221518","c.348C>T(E5)","p.116,P>P","rs60238091",0.12,0.11,0.11,0.1,0.099,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SPPL3",0.98,190,"同义",13203,"0.43=182/426","位于基因组单拷贝区域+DNA结构正常",121665,"12q24.31","NM_139015.4"]
["12308A(99)v16769",4,1,0.25,"12308A","SPRY2","chr13:80910681","m.1541T>C(E2)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"SPRY2",1,65,"非编码区",14400,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",10253,"13q31.1","NM_005842.2"]
["12308A(99)v10844",6,6,1,"12308A","SPTA1","chr1:158580759","m.7754G>A(E52)","非编码区","rs12601",0.5,0.61,0.62,0.61,null,null,"纯合","无关","有rs号，MAF>=5%",null,"球形细胞增多症3型","AR",270970,5,1,14,3,"SPTA1",1,160,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",6708,"1q21","NM_003126.2"]
["12308A(99)v24275",1,1,1,"12308A","SPTSSA","chr14:34902584","m.2094T>C(E2)","非编码区","rs74046054",0.073,0.26,0.23,0.29,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SPTSSA",1,150,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",171546,"14q13.1","NM_138288.3"]
["12308A(99)v25898",13,1,0.08,"12308A","SRCAP","chr16:30732234","c.3188C>A(E20)","p.1063,A>E",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"Floating-Harbor综合征(常染色体显性遗传，语言障碍，发育迟缓，身体矮，面畸形等)","AD",136140,2,1,4,1,"SRCAP",0.99,69,"错义",12410,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",10847,"16p11.2","NM_006662.2"]
["12308A(99)v16634",216,216,1,"12308A","SRP72","chr4:57356588","c.1227A>G(E12)","p.409,L>L","rs17086879",0.062,0.18,0.21,0.16,0.2,0.19,"纯合","无关","有rs号，MAF>=5%",null,"家族性骨髓衰竭综合征","AD",614675,5,1,1,1,"SRP72",1,260,"同义",13203,"1.00=368/368","位于基因组单拷贝区域+DNA结构正常",6731,"4q11","NM_001267722.1"]
["12308A(99)v16490",342,3,0.01,"12308A","SRSF11","chr1:70716118-70716120","c.1189(E12)至c.1191(E12):缺失AAG","缺失非移码",{"$nulls":5},0,0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"SRSF11",1,270,"缺失非移码",2241,"0.01=3/388","位于基因组单拷贝区域+DNA结构正常",9295,"1p31","NM_001190987.1"]
["12308A(99)v13938",1,1,1,"12308A","SSPO","chr7:149486382","c.4362C>G(E28)","p.1454,P>P","rs2074704",0.06,0.082,0.081,0.083,0.069,0.089,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,34,0,"SSPO",0.92,14,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23145,"7q36.1","NM_198455.2"]
["12308A(99)v23797",14,14,1,"12308A","SSTR4","chr20:23017082","c.962T>C(E1)","p.321,F>S","rs2567608",0.52,0.61,0.58,0.63,0.57,0.57,"纯合","无关","有rs号，MAF>=5%",20085586,{"$nulls":3},5,null,4,0,"SSTR4",1,13,"错义",12220,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",6754,"20p11.2","NM_001052.2"]
["12308A(99)v26621",6,1,0.17,"12308A","ST5","chr11:8737243","c.1752C>T(E9)","p.584,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ST5",1,71,"同义",13403,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",6764,"11p15","NM_005418.3"]
["12308A(99)v7288",144,143,0.99,"12308A","STARD9","chr15:42930891","IVS6-7A>T","剪切位点","rs1197550",{"$nulls":5},0.91,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"STARD9",1,100,"剪切位点",16302,"1.00=238/239","位于基因组单拷贝区域+DNA结构正常",57519,"15q15.2","NM_020759.2"]
["12308A(99)v12867",10,10,1,"12308A","STBD1","chr4:77231294","m.1962A>C(E2)","非编码区","rs3733248",0.87,0.82,0.84,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"STBD1",1,65,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",8987,"4q21.1","NM_003943.4"]
["12308A(99)v416",37,37,1,"12308A","STK17A","chr7:43664477","m.1432T>C(E7)","非编码区","rs15866",0.63,0.55,0.6,0.5,null,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"STK17A",1,210,"非编码区",14200,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",9263,"7p13","NM_004760.2"]
["12308A(99)v15965",70,35,0.5,"12308A","STOX1","chr10:70645697","c.2145C>T(E3)","p.715,N>N","rs10509306",0.088,0.048,0.048,0.049,0.098,0.077,"杂合","无关","有rs号，MAF>=5%",null,"先兆子痫/子痫惊厥4型",null,609404,5,2,3,1,"STOX1",0.9,140,"同义",13203,"0.50=45/90","位于基因组单拷贝区域+DNA结构正常",219736,"10q22.1","NM_001130161.2"]
["12308A(99)v26910",74,44,0.59,"12308A","SUCO","chr1:172558181","c.1940G>A(E18)","p.647,R>H",{"$nulls":6},0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"SUCO",1,220,"错义",12420,"0.60=74/123","位于基因组单拷贝区域+DNA结构正常",51430,"1q24","NM_014283.3"]
["12308A(99)v28798",11,11,1,"12308A","SUGT1","chr13:53262175","m.1528G>A(E14)","非编码区","rs2408657",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SUGT1",0.91,320,"非编码区",14200,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",10910,"13q14.3","NM_001130912.1"]
["12308A(99)v8276",31,6,0.19,"12308A","SUSD2","chr22:24579158","c.210A>C(E2)","p.70,G>G","rs201628954",{"$nulls":4},0.26,0.49,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"SUSD2",0.97,29,"同义",13303,"0.17=7/42","位于基因组多拷贝区域+DNA结构正常",56241,"22q11-q12","NM_019601.3"]
["12308A(99)v9195",118,58,0.49,"12308A","SVEP1","chr9:113275227","c.1282C>T(E5)","p.428,G>S","rs10980419",0.041,0.12,0.095,0.15,0.13,0.12,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"SVEP1",0.95,160,"错义",12110,"0.48=88/185","位于基因组单拷贝区域+DNA结构正常",79987,"9q32","NM_153366.3"]
["12308A(99)v1236",17,1,0.06,"12308A","SYDE2","chr1:85666074","c.606G>T(E1)","p.202,S>S",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"SYDE2",0.9,140,"同义",13403,"0.11=4/38","位于基因组单拷贝区域+DNA结构正常",84144,"1p22.3","NM_032184.1"]
["12308A(99)v2690",78,77,0.99,"12308A","SYNE1","chr6:152464839","c.24894A>G(E138)","p.8298,R>R","rs2256135",0.69,0.71,0.71,0.7,0.71,0.7,"纯合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良4型","AD",612998,5,1,19,2,"SYNE1",1,160,"同义",13203,"0.99=133/134","位于基因组单拷贝区域+DNA结构正常",23345,"6q25","NM_033071.3"]
["12308A(99)v24161",22,22,1,"12308A","SYNGAP1","chr6:33408542","c.1713G>A(E11)","p.571,S>S","rs411136",0.44,0.64,0.63,0.66,0.57,0.67,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神智力发育迟滞5型","AD",612621,5,1,1,1,"SYNGAP1",1,51,"同义",13203,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",8831,"6p21.3","NM_006772.2"]
["12308A(99)v12304",59,59,1,"12308A","SYNPO2","chr4:119951647","c.1717A>G(E4)","p.573,T>A","rs7698598",0.84,0.86,0.9,0.83,0.8,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SYNPO2",1,120,"错义",12220,"1.00=100/100","位于基因组单拷贝区域+DNA结构正常",171024,"4q26","NM_001128933.1"]
["12308A(99)v14043",221,111,0.5,"12308A","SYT1","chr12:79685913","IVS7+3C>A","剪切位点","rs2272500",0.41,0.56,0.54,0.58,null,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SYT1",1,250,"剪切位点",16202,"0.51=190/370","位于基因组单拷贝区域+DNA结构正常",6857,"12cen-q21","NM_001135805.1"]
["12308A(99)v8075",130,130,1,"12308A","TACC2","chr10:124013604","m.3449C>A(E17)","非编码区","rs3763763",0.26,0.28,0.28,0.28,null,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"TACC2",0.99,74,"非编码区",14200,"1.00=238/238","位于基因组单拷贝区域+DNA结构正常",10579,"10q26","NM_006997.2"]
["12308A(99)v28087",108,107,0.99,"12308A","TAF1B","chr2:10059844","c.1460C>T(E14)","p.487,T>M","rs16867245",0.14,0.2,0.21,0.19,0.19,0.23,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TAF1B",1,260,"错义",12220,"0.98=184/187","位于基因组单拷贝区域+DNA结构正常",9014,"2p25","NM_005680.2"]
["12308A(99)v14114",4,1,0.25,"12308A","TAF6","chr7:99705218","c.1796C>T(E15)","p.599,G>D",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"TAF6",1,57,"错义",12420,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",6878,"7q22.1","NM_001190415.1"]
["12308A(99)v17200",97,97,1,"12308A","TARSL2","chr15:102224341","c.1587G>A(E12)","p.529,S>S","rs12901450",0.4,0.71,0.69,0.73,0.67,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TARSL2",0.88,230,"同义",13203,"1.00=147/147","位于基因组单拷贝区域+DNA结构正常",123283,"15q26.3","NM_152334.2"]
["12308A(99)v2224",82,82,1,"12308A","TAS2R9","chr12:10962115","c.560A>G(E1)","p.187,V>A","rs3741845",0.53,0.7,0.73,0.67,0.68,0.72,"纯合","无关","有rs号，MAF>=5%","19092995;23133589",{"$nulls":3},5,null,1,0,"TAS2R9",1,120,"错义",12220,"0.99=130/131","位于基因组单拷贝区域+DNA结构正常",50835,"12p13","NM_023917.2"]
["12308A(99)v6479",37,17,0.46,"12308A","TBC1D1","chr4:37904082","c.366T>C(E2)","p.122,A>A","rs2279026",0.4,0.33,0.36,0.3,0.31,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"TBC1D1",0.93,130,"同义",13203,"0.44=27/61","位于基因组单拷贝区域+DNA结构正常",23216,"4p14","NM_001253912.1"]
["12308A(99)v28391",26,19,0.73,"12308A","TBC1D28","chr17:18542519","c.167T>G(E6)","p.56,E>A","rs74452761",{"$nulls":4},0.58,0.59,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"TBC1D28",1,180,"错义",12310,"0.75=33/44","位于基因组多拷贝区域+DNA结构正常",254272,"17p11.2","NM_001039397.2"]
["12308A(99)v13347",5,4,0.8,"12308A","TBX1","chr22:19753444","c.928G>A(E8)","p.310,G>S","rs41298838",0.009,0.041,0.052,0.029,0.043,0.1,"杂合","较高","有疾病相关报道","14585638;","心脏圆锥动脉干畸形","AR",217095,1,3,3,4,"TBX1",0.59,30,"错义",11100,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",6899,"22q11.21","NM_005992.1"]
["12308A(99)v10966",81,80,0.99,"12308A","TCEA1","chr8:54880468","m.1425A>C(E10)","非编码区","rs1050471",0.56,0.76,0.72,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TCEA1",1,270,"非编码区",14200,"0.99=90/91","位于基因组多拷贝区域+DNA结构正常",6917,"8q11.2","NM_006756.2"]
["12308A(99)v12438",20,12,0.6,"12308A","TCHH","chr1:152081921","c.3772G>C(E2)","p.1258,L>V","rs2496253",0.57,0.58,0.58,0.58,0.58,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TCHH",0.92,41,"错义",12220,"0.61=20/33","位于基因组单拷贝区域+DNA结构正常",7062,"1q21.3","NM_007113.2"]
["12308A(99)v11055",41,41,1,"12308A","TCTE1","chr6:44253749","c.798A>G(E3)","p.266,R>R","rs324143",0.88,0.98,0.98,0.98,0.97,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TCTE1",1,43,"同义",13203,"1.00=67/67","位于基因组单拷贝区域+DNA结构正常",202500,"6p21.1","NM_182539.3"]
["12308A(99)v18255",187,87,0.47,"12308A","TECTB","chr10:114053546","c.534C>G(E5)","p.178,S>S","rs726009",{"$nulls":4},0.75,0.74,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"TECTB",1,220,"同义",13303,"0.46=154/335","位于基因组单拷贝区域+DNA结构正常",6975,"10q25-q26","NM_058222.1"]
["12308A(99)v2094",4,4,1,"12308A","TELO2","chr16:1555589","c.2021A>G(E16)","p.674,Q>R","rs2248128",0.51,0.49,0.5,0.47,0.37,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TELO2",0.76,17,"错义",12220,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",9894,"16p13.3","NM_016111.3"]
["12308A(99)v7549",6,5,0.83,"12308A","TEPP","chr16:58019396","c.779G>A(E6)","p.260,S>N","rs9934227",0.78,0.55,0.57,0.53,0.45,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TEPP",0.99,46,"错义",12220,"0.90=9/10","位于基因组单拷贝区域+DNA结构正常",374739,"16q21","NM_199046.2"]
["12308A(99)v786",5,5,1,"12308A","TFAP2B","chr6:50811241","m.1685T>A(E7)","非编码区","rs2982621",0.86,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Char综合症","AD",169100,5,1,1,1,"TFAP2B",0.99,93,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",7021,"6p12","NM_003221.3"]
["12308A(99)v20000",9,9,1,"12308A","TGFB2","chr1:218614905","m.2898A>T(E8)","非编码区","rs900",0.42,0.75,0.77,0.72,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Loeys-Dietz综合征4型","AD",614816,5,1,1,1,"TGFB2",1,160,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",7042,"1q41","NM_001135599.2"]
["12308A(99)v11237",60,60,1,"12308A","TGFBR3","chr1:92185657","c.1203C>T(E9)","p.401,P>P","rs1805112",0.41,0.52,0.5,0.53,0.49,0.53,"纯合","无关","有rs号，MAF>=5%","19131638;22290546",{"$nulls":3},5,null,3,0,"TGFBR3",1,170,"同义",13203,"1.00=90/90","位于基因组单拷贝区域+DNA结构正常",7049,"1p33-p32","NM_001195683.1"]
["12308A(99)v6486",4,4,1,"12308A","TGM6","chr20:2375262","c.172A>G(E2)","p.58,M>V","rs2076405",0.88,0.69,0.7,0.68,0.55,0.68,"纯合","无关","有rs号，MAF>=5%",null,"脊髓小脑性共济失调35型","AD",613908,5,1,3,1,"TGM6",1,65,"错义",12220,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",343641,"20p13","NM_001254734.1"]
["12308A(99)v26077",40,40,1,"12308A","THEM5","chr1:151820298","c.616G>C(E5)","p.206,L>V","rs6587624",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"THEM5",1,110,"错义",12230,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",284486,"1q21.3","NM_182578.3"]
["12308A(99)v16579",68,32,0.47,"12308A","THRB","chr3:24184995","c.735G>A(E7)","p.245,F>F","rs3752874",0.16,0.067,0.052,0.083,0.057,0.046,"杂合","无关","有rs号，MAF>=5%",18844476,"常染色体隐性全身型甲状腺激素抵抗","AR",274300,5,3,2,3,"THRB",1,180,"同义",13203,"0.46=56/121","位于基因组单拷贝区域+DNA结构正常",7068,"3p24.2","NM_000461.4"]
["12308A(99)v5372",100,47,0.47,"12308A","TICRR","chr15:90167658","c.4117G>A(E20)","p.1373,V>I","rs79501973",0.032,0.082,0.086,0.078,0.1,0.096,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"TICRR",0.94,140,"错义",12120,"0.48=82/171","位于基因组单拷贝区域+DNA结构正常",90381,"15q26.1","NM_152259.3"]
["12308A(99)v26705",120,118,0.98,"12308A","TIMELESS","chr12:56827974","m.149C>T(E2)","非编码区","rs2638312",0.97,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"TIMELESS",1,110,"非编码区",14200,"0.99=194/196","位于基因组单拷贝区域+DNA结构正常",8914,"12q13.3","NM_003920.3"]
["12308A(99)v31182",59,59,1,"12308A","TJP2","chr9:71820008","m.82A>G(E1)","非编码区","rs2498440",0.88,0.93,0.92,0.94,null,null,"纯合","无关","有rs号，MAF>=5%",null,"家族性高胆烷血症",null,607748,5,1,8,2,"TJP2",1,150,"非编码区",14200,"1.00=83/83","位于基因组单拷贝区域+DNA结构正常",9414,"9q13-q21","NM_001170415.1"]
["12308A(99)v24070",24,16,0.67,"12308A","TLN1","chr9:35707338","IVS36+7G>A","非编码区","rs55810625",0.2,0.34,0.33,0.35,null,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TLN1",1,67,"非编码区",16203,"0.64=23/36","位于基因组单拷贝区域+DNA结构正常",7094,"9p13","NM_006289.3"]
["12308A(99)v24073",21,9,0.43,"12308A","TLN1","chr9:35712003","c.3680G>A(E28)","p.1227,S>L","rs2295795",0.2,0.34,0.33,0.35,0.29,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TLN1",1,67,"错义",12210,"0.45=15/33","位于基因组单拷贝区域+DNA结构正常",7094,"9p13","NM_006289.3"]
["12308A(99)v1256",43,43,1,"12308A","TM9SF4","chr20:30753270","m.2187T>C(E18)","非编码区","rs14316",0.76,1,1,0.99,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TM9SF4",1,110,"非编码区",14200,"1.00=66/66","位于基因组单拷贝区域+DNA结构正常",9777,"20q11.21","NM_014742.3"]
["12308A(99)v30564",41,1,0.02,"12308A","TMCO1","chr1:165738021-165738022","c.121(E1)至c.120(E1):插入G","插入移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"颅面畸形，骨骼畸形和智力发育迟滞","AR",213980,1,3,1,1,"TMCO1",1,170,"插入移码",2140,"0.05=2/44","位于基因组单拷贝区域+简单重复结构",54499,"1q22-q25","NM_001256164.1"]
["12308A(99)v5422",5,5,1,"12308A","TMED5","chr1:93646207","m.40T>C(E1)","非编码区","rs2297707",0.52,0.65,0.61,0.68,0.56,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMED5",1,200,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",50999,"1pter-q31.3","NM_001167830.1"]
["12308A(99)v3789",15,7,0.47,"12308A","TMEM110","chr3:52874446","m.1080C>T(E8)","非编码区","rs6769789",0.47,0.56,0.62,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM110",0.82,91,"非编码区",14200,"0.47=8/17","位于基因组单拷贝区域+DNA结构正常",375346,"3p21.1","NM_198563.2"]
["12308A(99)v9058",9,1,0.11,"12308A","TMEM140","chr7:134849661","c.468C>T(E2)","p.156,S>S",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"TMEM140",1,25,"同义",13403,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",55281,"7q33","NM_018295.3"]
["12308A(99)v14756",1,1,1,"12308A","TMEM170B","chr6:11582447","m.7052A>G(E3)","非编码区","rs2275398",0.081,0.14,0.15,0.14,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM170B",0.93,170,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",100113407,"6p24.2","NM_001100829.1"]
["12308A(99)v26683",3,1,0.33,"12308A","TMEM200B","chr1:29447743","c.598C>T(E2)","p.200,V>I",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"TMEM200B",0.43,3.1,"错义",12420,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",399474,"1p35","NM_001003682.3"]
["12308A(99)v28215",44,20,0.45,"12308A","TMEM233","chr12:120078577","m.787T>C(E3)","非编码区","rs2301655",0.71,0.62,0.63,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMEM233",1,120,"非编码区",14200,"0.52=39/75","位于基因组单拷贝区域+DNA结构正常",387890,"12q24.23","NM_001136534.1"]
["12308A(99)v19818",3,1,0.33,"12308A","TMEM37","chr2:120195182","m.773C>G(E2)","非编码区","rs2278565",0.87,0.89,0.88,0.9,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMEM37",0.96,40,"非编码区",14200,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",140738,"2q14.2","NM_183240.2"]
["12308A(99)v5968",163,85,0.52,"12308A","TMEM67","chr8:94794620","IVS11-3C>T","剪切位点","rs3097427",0.72,0.84,0.83,0.85,0.79,0.84,"杂合","无关","有rs号，MAF>=5%",null,"Joubert综合征6型","AR",610688,5,3,2,5,"TMEM67",1,280,"剪切位点",16202,"0.51=169/333","位于基因组单拷贝区域+DNA结构正常",91147,"8q22.1","NM_001142301.1"]
["12308A(99)v27598",154,68,0.44,"12308A","TMPRSS11A","chr4:68810246","c.243G>A(E3)","p.81,T>T","rs1370840",0.33,0.15,0.2,0.11,0.18,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMPRSS11A",1,250,"同义",13203,"0.46=133/287","位于基因组单拷贝区域+DNA结构正常",339967,"4q13.2","NM_001114387.1"]
["12308A(99)v12114",114,114,1,"12308A","TMPRSS11B","chr4:69094507","c.1042T>A(E9)","p.348,T>S","rs2319797",0.72,0.99,0.98,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMPRSS11B",1,220,"错义",12220,"0.99=197/198","位于基因组单拷贝区域+DNA结构正常",132724,"4q13.2","NM_182502.3"]
["12308A(99)v18708",70,70,1,"12308A","TMPRSS7","chr3:111760771","m.137A>G(E2)","非编码区","rs774774",0.82,0.75,0.74,0.76,null,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TMPRSS7",1,180,"非编码区",14200,"1.00=121/121","位于基因组单拷贝区域+DNA结构正常",344805,"3q13.2","NM_001042575.2"]
["12308A(99)v11149",3,3,1,"12308A","TNFRSF13B","chr17:16842688","m.1068C>T(E5)","非编码区","rs56153623",0.42,0.49,0.49,0.5,null,null,"纯合","无关","有rs号，MAF>=5%",null,"普通变异性免疫缺陷病2型","AD,AR",240500,5,1,3,2,"TNFRSF13B",1,41,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",23495,"17p11.2","NM_012452.2"]
["12308A(99)v17213",45,18,0.4,"12308A","TNFRSF1A","chr12:6440009","IVS6+10T>C","非编码区","rs1800693",0.3,0.11,0.1,0.11,0.12,0.15,"杂合","无关","有rs号，MAF>=5%",null,"多发性硬化症（易感）5型",null,614810,5,2,2,2,"TNFRSF1A",0.81,67,"非编码区",16203,"0.44=30/68","位于基因组单拷贝区域+DNA结构正常",7132,"12p13.2","NM_001065.3"]
["12308A(99)v10698",9,1,0.11,"12308A","TNKS1BP1","chr11:57076960","c.3225G>T(E6)","p.1075,D>E",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"TNKS1BP1",1,36,"错义",12420,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",85456,"11q12.1","NM_033396.2"]
["12308A(99)v7819",66,66,1,"12308A","TNR","chr1:175348723","c.1928C>T(E9)","p.643,R>K","rs859427",0.7,0.83,0.79,0.87,0.82,0.82,"纯合","无关","有rs号，MAF>=5%",19435634,{"$nulls":3},5,null,8,0,"TNR",1,110,"错义",12220,"1.00=107/107","位于基因组单拷贝区域+DNA结构正常",7143,"1q24","NM_003285.2"]
["12308A(99)v15372",4,4,1,"12308A","TOPAZ1","chr3:44283672","c.127T>C(E1)","p.43,C>R","rs9833423",null,0.85,0.86,0.84,0.54,0.86,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"TOPAZ1",0.99,200,"错义",12320,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_001145030.1"]
["12308A(99)v9155",79,79,1,"12308A","TOR1AIP1","chr1:179887125","c.1506G>A(E10)","p.502,A>A","rs627897",0.92,0.92,0.92,0.92,0.87,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TOR1AIP1",1,170,"同义",13203,"1.00=128/128","位于基因组单拷贝区域+DNA结构正常",26092,"1q24.2","NM_001267578.1"]
["12308A(99)v31678",145,136,0.94,"12308A","TP63","chr3:189507519-189507523","m.71(E1)至m.75(E1):缺失GGGGT插入AGAGGGGGTG","非编码区","rs62702062",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",null,"肢乳腺综合征","AD",603543,3,1,4,6,"TP63",1,180,"非编码区",2430,"0.95=155/164","位于基因组单拷贝区域+DNA结构正常",8626,"3q28","NM_001114980.1"]
["12308A(99)v11665",110,64,0.58,"12308A","TPH2","chr12:72416235","c.1125A>T(E9)","p.375,A>A","rs4290270",0.49,0.44,0.41,0.47,0.44,0.49,"杂合","无关","有rs号，MAF>=5%","17167340;17453063;18181017;18698231;19352219;19693267;19763617;20126463;20938755;21172166;21620479;21937687;22655589;23628433","注意力不足运动症,易感27型",null,613003,5,2,2,2,"TPH2",1,240,"同义",13203,"0.59=100/169","位于基因组单拷贝区域+DNA结构正常",121278,"12q21.1","NM_173353.3"]
["12308A(99)v29764",8,4,0.5,"12308A","TPSAB1","chr16:1291188","c.96C>T(E3)","p.32,V>V","rs17434400",{"$nulls":4},0.55,0.52,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"TPSAB1",1,54,"同义",13303,"0.71=10/14","位于基因组多拷贝区域+DNA结构正常",7177,"16p13.3","NM_003294.3"]
["12308A(99)v27043",20,5,0.25,"12308A","TRAK1","chr3:42265271-42265273","m.3120(E16)至m.3122(E16):缺失CTC","非编码区","rs3836498",0.24,0.36,0.4,0.32,0.027,0.34,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,7,0,"TRAK1",0.94,75,"非编码区",2420,"0.21=5/24","位于基因组单拷贝区域+DNA结构正常",22906,"3p22.1","NM_001042646.2"]
["12308A(99)v29948",19,9,0.47,"12308A","TRAPPC12","chr2:3483205","c.2181C>T(E12)","p.727,F>F","rs6767",0.49,0.49,0.44,0.54,0.46,0.49,"杂合","无关","有rs号，MAF>=5%","18252230;18647951",{"$nulls":3},5,null,4,0,"TRAPPC12",0.96,83,"同义",13203,"0.41=14/34","位于基因组单拷贝区域+DNA结构正常",51112,"2p25.3","NM_016030.5"]
["12308A(99)v9730",53,31,0.58,"12308A","TRIM14","chr9:100849465","m.1626G>A(E6)","非编码区","rs10984980",0.087,0.25,0.27,0.23,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TRIM14",0.74,49,"非编码区",14200,"0.59=50/85","位于基因组多拷贝区域+DNA结构正常",9830,"9q22.33","NM_014788.2"]
["12308A(99)v6702",176,87,0.49,"12308A","TRIM38","chr6:25969631","c.490C>T(E4)","p.164,R>X","rs76757832",0.014,0.055,0.038,0.073,0.058,0.036,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,2,0,"TRIM38",1,130,"截断",15100,"0.53=150/283","位于基因组单拷贝区域+DNA结构正常",10475,"6p21.3","NM_006355.3"]
["12308A(99)v17942",93,44,0.47,"12308A","TRIM6-TRIM34","chr11:5625847","c.591A>G(E3)","p.197,K>K","rs3751006",0.7,0.69,0.65,0.72,0.75,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TRIM6-TRIM34",1,120,"同义",13203,"0.55=90/165","位于基因组单拷贝区域+DNA结构正常",445372,"11p15","NM_001003819.3"]
["12308A(99)v19214",35,14,0.4,"12308A","TRIML2","chr4:189012458","m.1269C>A(E7)","非编码区","rs2279549",0.24,0.53,0.58,0.49,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TRIML2",1,160,"非编码区",14200,"0.42=18/43","位于基因组单拷贝区域+DNA结构正常",205860,"4q35.2","NM_173553.1"]
["12308A(99)v20085",26,25,0.96,"12308A","TRMT61B","chr2:29092850","c.294G>T(E1)","p.98,S>S","rs4666122",0.51,0.78,0.8,0.75,0.73,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TRMT61B",1,180,"同义",13203,"0.98=40/41","位于基因组单拷贝区域+DNA结构正常",55006,"2p23.2","NM_017910.3"]
["12308A(99)v5864",17,12,0.71,"12308A","TRPM5","chr11:2427291","c.3282A>C(E22)","p.1094,G>G","rs800342",null,0.5,0.5,0.5,0.54,0.55,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"TRPM5",0.95,20,"同义",13303,"0.74=23/31","位于基因组单拷贝区域+DNA结构正常",29850,"11p15.5","NM_014555.3"]
["12308A(99)v26433",29,29,1,"12308A","TRPV4","chr12:110240838","c.670T>G(E3)","p.224,R>R","rs3825394",0.75,0.97,0.96,0.97,0.87,0.95,"纯合","无关","有rs号，MAF>=5%",null,"Maroteaux型脊椎骨骺发育不良","AD",184095,5,1,1,10,"TRPV4",1,52,"同义",13203,"1.00=53/53","位于基因组单拷贝区域+DNA结构正常",59341,"12q24.1","NM_001177428.1"]
["12308A(99)v20881",75,75,1,"12308A","TSHZ2","chr20:51870849","c.843T>C(E2)","p.281,F>F","rs739870",0.83,0.79,0.75,0.84,0.74,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TSHZ2",0.99,80,"同义",13203,"1.00=125/125","位于基因组单拷贝区域+DNA结构正常",128553,"20q13.2","NM_001193421.1"]
["12308A(99)v11612",7,7,1,"12308A","TSPAN4","chr11:862652","c.166T>C(E4)","p.56,L>L","rs28505621",0.99,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TSPAN4",1,15,"同义",13203,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",7106,"11p15.5","NM_001025234.1"]
["12308A(99)v19497",102,101,0.99,"12308A","TSTD2","chr9:100388197","c.248C>T(E3)","p.83,R>Q","rs2773347",0.64,0.48,0.49,0.47,0.51,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TSTD2",1,180,"错义",12220,"0.99=155/156","位于基因组单拷贝区域+DNA结构正常",158427,"9q22.33","NM_139246.4"]
["12308A(99)v23850",5,4,0.8,"12308A","TTC16","chr9:130489743","c.1763A>G(E12)","p.588,E>G","rs13298768",0.34,0.25,0.23,0.28,0.19,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TTC16",0.94,31,"错义",12220,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",158248,"9q34.11","NM_144965.1"]
["12308A(99)v5573",15,1,0.07,"12308A","TTC7A","chr2:47202115","c.521T>C(E4)","p.174,L>P",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"多发性肠闭锁","AR",243150,2,3,1,1,"TTC7A",0.95,46,"错义",12410,"0.11=2/19","位于基因组单拷贝区域+DNA结构正常",57217,"2p21","NM_020458.2"]
["12308A(99)v30519",2,2,1,"12308A","TTI2","chr8:33370296","m.408A>T(E1)","非编码区","rs2581895",0.028,0.079,0.081,0.078,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"精神（智力）发育迟滞-39","AR",615541,3,1,3,1,"TTI2",1,140,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",80185,"8p12","NM_025115.3"]
["12308A(99)v15042",65,64,0.98,"12308A","TTN","chr2:179605180","c.11829C>A(E46)","p.3943,A>A","rs746578",null,0.22,0.23,0.22,0.21,0.21,"纯合","未知","预测范围之外的同义突变",null,"迟发性胫骨肌营养不良症","AD",600334,4,1,72,6,"TTN",0.99,150,"同义",13303,"0.99=101/102","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15046",81,81,1,"12308A","TTN","chr2:179604160","c.12849T>G(E46)","p.4283,L>F","rs1883085",0.076,0.22,0.23,0.22,0.2,0.21,"纯合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,72,6,"TTN",0.99,150,"错义",12220,"1.00=121/121","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15055",53,53,1,"12308A","TTN","chr2:179585393","IVS77-3A>G","剪切位点","rs2562830",0.46,0.67,0.7,0.63,0.57,0.67,"纯合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,1,72,6,"TTN",0.99,150,"剪切位点",16202,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15057",133,132,0.99,"12308A","TTN","chr2:179585266","c.22272C>T(E78)","p.7424,Q>Q","rs2562831",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,72,6,"TTN",0.99,150,"同义",13203,"1.00=205/206","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15062",47,46,0.98,"12308A","TTN","chr2:179582537","c.24113G>T(E85)","p.8038,A>E","rs2627043",0.44,0.66,0.7,0.63,0.62,0.67,"纯合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,1,72,6,"TTN",0.99,150,"错义",12220,"0.98=59/60","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15073",56,56,1,"12308A","TTN","chr2:179600648","c.13574C>T(E48)","p.4525,R>K","rs2742347",0.14,0.22,0.23,0.22,0.21,0.21,"纯合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病9型",null,613765,5,1,72,6,"TTN",0.99,150,"错义",12220,"1.00=84/84","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15074",47,47,1,"12308A","TTN","chr2:179605705","c.11304A>G(E46)","p.3768,I>I","rs2742357",0.076,0.22,0.23,0.22,0.21,0.21,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1G型",null,604145,5,1,72,6,"TTN",0.99,150,"同义",13203,"1.00=67/67","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15083",45,45,1,"12308A","TTN","chr2:179615994","c.11133T>C(E46)","p.3711,T>T","rs922986",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病9型",null,613765,5,1,72,6,"TTN",0.99,150,"同义",13203,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_133379.3"]
["12308A(99)v15090",84,47,0.56,"12308A","TTN","chr2:179406003","IVS300+6C>A","剪切位点","rs3731750",0.5,0.68,0.71,0.65,0.65,0.72,"杂合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,2,72,6,"TTN",0.99,150,"剪切位点",16202,"0.60=74/124","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15095",47,47,1,"12308A","TTN","chr2:179644035","c.3884G>A(E23)","p.1295,S>L","rs1552280",0.92,0.9,0.91,0.9,0.81,0.88,"纯合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,1,72,6,"TTN",0.99,150,"错义",12220,"1.00=81/81","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15098",109,55,0.5,"12308A","TTN","chr2:179451420","c.59285G>A(E258)","p.19762,T>I","rs2042996",0.51,0.69,0.73,0.66,0.63,0.7,"杂合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病9型",null,613765,5,2,72,6,"TTN",0.99,150,"错义",12220,"0.49=86/174","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15106",153,73,0.48,"12308A","TTN","chr2:179472292","c.48200T>A(E227)","p.16067,K>I","rs2303832",0.03,0.11,0.12,0.087,0.087,0.1,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"肢带型肌营养不良症2J型","AR",608807,3,3,72,6,"TTN",0.99,150,"错义",12120,"0.49=114/235","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15108",141,68,0.48,"12308A","TTN","chr2:179433221","c.72715T>C(E276)","p.24239,T>A","rs56018860",0.022,0.072,0.081,0.063,0.057,0.065,"杂合","可能相关","蛋白结构预测结果为有害",null,"肢带型肌营养不良症2J型","AR",608807,2,3,72,6,"TTN",0.99,150,"错义",12110,"0.44=98/223","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12308A(99)v15777",58,58,1,"12308A","TUBB1","chr20:57599016","c.534T>G(E4)","p.178,T>T","rs163777",null,1,1,1,0.97,1,"纯合","未知","预测范围之外的同义突变",null,"巨血小板减少症","AD",613112,4,1,2,1,"TUBB1",1,74,"同义",13303,"1.00=93/93","位于基因组多拷贝区域+DNA结构正常",81027,"20q13.32","NM_030773.3"]
["12308A(99)v4059",27,5,0.19,"12308A","TUBGCP3","chr13:113140349","c.2682A>G(E22)","p.894,R>R","rs41288614",0.066,0.048,0.052,0.044,0.025,0.034,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TUBGCP3",1,180,"同义",13203,"0.12=5/43","位于基因组多拷贝区域+DNA结构正常",10426,"13q34","NM_006322.4"]
["12308A(99)v26096",38,23,0.61,"12308A","TULP1","chr6:35477032","c.776A>G(E8)","p.259,I>T","rs2064317",0.39,0.49,0.49,0.49,0.45,0.49,"杂合","无关","有rs号，MAF>=5%",19339744,"Leber先天性黑蒙15型","AR",613843,5,3,4,2,"TULP1",1,41,"错义",12220,"0.55=36/65","位于基因组单拷贝区域+DNA结构正常",7287,"6p21.3","NM_003322.3"]
["12308A(99)v28654",6,1,0.17,"12308A","TXNRD2","chr22:19868218","c.1109A>G(E13)","p.370,I>T","rs1139793",0.72,0.62,0.6,0.65,0.54,0.6,"杂合","无关","有rs号，MAF>=5%","20003265;20018033;23597419",{"$nulls":3},5,null,3,0,"TXNRD2",0.93,57,"错义",12220,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",10587,"22q11.21","NM_006440.3"]
["12308A(99)v6968",69,68,0.99,"12308A","UBA2","chr19:34959979","c.1776A>G(E17)","p.592,S>S","rs7259160",0.79,0.85,0.84,0.85,0.8,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"UBA2",1,230,"同义",13203,"0.99=99/100","位于基因组多拷贝区域+DNA结构正常",10054,"19q12","NM_005499.2"]
["12308A(99)v20318",11,2,0.18,"12308A","UBE2I","chr16:1374899","m.740T>G(E7)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"UBE2I",1,87,"非编码区",14400,"0.25=4/16","位于基因组单拷贝区域+DNA结构正常",7329,"16p13.3","NM_003345.4"]
["12308A(99)v4709",93,93,1,"12308A","UBQLNL","chr11:5536537","c.1135A>C(E1)","p.379,W>G","rs393044",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"UBQLNL",1,94,"错义",12220,"1.00=146/146","位于基因组单拷贝区域+DNA结构正常",143630,"11p15.4","NM_145053.4"]
["12308A(99)v27744",128,128,1,"12308A","UGGT1","chr2:128878014","c.957G>A(E9)","p.319,K>K","rs4662594",0.83,0.83,0.84,0.82,0.84,0.84,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"UGGT1",1,240,"同义",13203,"1.00=211/212","位于基因组单拷贝区域+DNA结构正常",56886,"2q14.3","NM_020120.3"]
["12308A(99)v8261",1,1,1,"12308A","UGT1A1","chr2:234681645","m.2057G>C(E5)","非编码区","rs8330",0.75,0.87,0.86,0.89,null,null,"纯合","无关","有rs号，MAF>=5%",null,"血清胆红素水平",null,601816,5,1,3,5,"UGT1A1",1,130,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54658,"2q37","NM_000463.2"]
["12308A(99)v23831",110,49,0.45,"12308A","UGT1A5","chr2:234622420","c.783T>C(E1)","p.261,F>F","rs17862869",{"$nulls":4},0.17,0.19,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"UGT1A5",1,170,"同义",13303,"0.43=74/172","位于基因组多拷贝区域+DNA结构正常",54579,"2q37","NM_019078.1"]
["12308A(99)v3867",157,157,1,"12308A","UGT2B28","chr4:70146704","c.486G>A(E1)","p.162,A>A","rs7689398",0.37,0.33,0.3,0.35,0.33,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"UGT2B28",1,370,"同义",13203,"1.00=285/285","位于基因组多拷贝区域+DNA结构正常",54490,"4q13.2","NM_001207004.1"]
["12308A(99)v14326",49,49,1,"12308A","UMODL1","chr21:43547788","c.3537T>C(E20)","p.1179,P>P","rs220158",0.82,0.78,0.76,0.8,0.8,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"UMODL1",1,68,"同义",13203,"1.00=77/77","位于基因组单拷贝区域+DNA结构正常",89766,"21q22.3","NM_001004416.2"]
["12308A(99)v18725",73,73,1,"12308A","UNC13A","chr19:17746947","c.3101A>G(E26)","p.1034,L>P","rs4239634",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"UNC13A",0.98,70,"错义",12220,"1.00=113/113","位于基因组单拷贝区域+DNA结构正常",23025,"19p13.11","NM_001080421.2"]
["12308A(99)v26920",1,1,1,"12308A","UPRT","chrX:74523726","m.1506T>G(E7)","非编码区","rs112073726",null,0,0,0,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"UPRT",1,100,"非编码区",14300,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",139596,"Xq13.3","NM_145052.3"]
["12308A(99)v31627",4,1,0.25,"12308A","USH1C","chr11:17515661","m.2018T>A(E21)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"常染色体隐性遗传耳聋18型","AR",602092,3,3,3,2,"USH1C",1,68,"非编码区",14400,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",10083,"11p14.3","NM_005709.3"]
["12308A(99)v17318",74,74,1,"12308A","USH2A","chr1:215848641","c.12612T>C(E63)","p.4204,T>T","rs2797235",0.69,0.62,0.61,0.63,0.64,0.65,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性39型-AR",null,613809,5,1,8,2,"USH2A",1,190,"同义",13203,"1.00=117/117","位于基因组单拷贝区域+DNA结构正常",7399,"1q41","NM_206933.2"]
["12308A(99)v19940",1,1,1,"12308A","USP29","chr19:57643099","m.3412G>A(E4)","非编码区","rs8103793",0.67,0.8,0.76,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"USP29",1,110,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",57663,"19q13.43","NM_020903.2"]
["12308A(99)v9988",128,128,1,"12308A","USP40","chr2:234449316","c.1195G>A(E9)","p.399,L>L","rs2167884",0.82,0.85,0.82,0.87,0.89,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"USP40",1,260,"同义",13203,"1.00=222/223","位于基因组单拷贝区域+DNA结构正常",55230,"2q37.1","NM_018218.2"]
["12308A(99)v23975",85,46,0.54,"12308A","UTP20","chr12:101723197","c.3387C>T(E27)","p.1129,T>T","rs74363467",0.032,0.07,0.076,0.063,0.062,0.08,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"UTP20",1,230,"同义",13103,"0.54=81/149","位于基因组单拷贝区域+DNA结构正常",27340,"12q23","NM_014503.2"]
["12308A(99)v10776",11,7,0.64,"12308A","VAMP5","chr2:85820412","m.566C>T(E3)","非编码区","rs14242",0.14,0.29,0.3,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"VAMP5",0.99,130,"非编码区",14200,"0.71=10/14","位于基因组多拷贝区域+DNA结构正常",10791,"2p11.2","NM_006634.2"]
["12308A(99)v14954",53,30,0.57,"12308A","VCL","chr10:75871735","c.2814C>G(E19)","p.938,G>G","rs2131956",0.62,0.37,0.36,0.37,0.38,0.38,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1W型",null,611407,5,2,2,2,"VCL",0.99,130,"同义",13203,"0.58=57/98","位于基因组单拷贝区域+DNA结构正常",7414,"10q22.2","NM_014000.2"]
["12308A(99)v17637",24,14,0.58,"12308A","VEGFA","chr6:43752536","m.1974C>T(E8)","非编码区","rs3025039",0.13,0.2,0.21,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",null,"糖尿病微血管并发症易感1型",null,603933,5,2,1,1,"VEGFA",0.78,60,"非编码区",14200,"0.56=14/25","位于基因组单拷贝区域+DNA结构正常",7422,"6p12","NM_001025366.2"]
["12308A(99)v14385",99,51,0.52,"12308A","VNN1","chr6:133015271","c.392T>C(E3)","p.131,N>S","rs2272996",0.27,0.36,0.35,0.37,0.39,0.39,"杂合","无关","有rs号，MAF>=5%",18043751,{"$nulls":3},5,null,2,0,"VNN1",1,160,"错义",12210,"0.53=87/163","位于基因组多拷贝区域+DNA结构正常",8876,"6q23-q24","NM_004666.2"]
["12308A(99)v25545",9,4,0.44,"12308A","VPS53","chr17:435896","m.2331C>T(E18)","非编码区","rs11650424",0.26,0.3,0.34,0.25,null,null,"杂合","无关","有rs号，MAF>=5%",null,"桥脑小脑发育不全2E型","AR",615851,5,3,4,1,"VPS53",1,160,"非编码区",14200,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",55275,"17p13.3","NM_018289.3"]
["12308A(99)v17763",111,47,0.42,"12308A","VWA3A","chr16:22155629","c.2654A>G(E26)","p.885,N>S","rs9937453",0.37,0.62,0.6,0.64,0.55,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"VWA3A",1,130,"错义",12220,"0.45=90/202","位于基因组单拷贝区域+DNA结构正常",146177,"16p12.2","NM_173615.3"]
["12308A(99)v6151",114,61,0.54,"12308A","VWDE","chr7:12395813","c.3669T>C(E18)","p.1223,Q>Q","rs2119141",0.77,0.79,0.79,0.79,0.76,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,22,0,"VWDE",1,210,"同义",13203,"0.51=91/177","位于基因组单拷贝区域+DNA结构正常",221806,"7p21.3","NM_001135924.1"]
["12308A(99)v29024",6,3,0.5,"12308A","VWF","chr12:6167196","c.1548A>G(E14)","p.516,Y>Y","rs1800379",0.38,0.2,0.23,0.17,0.11,0.18,"杂合","无关","有rs号，MAF>=5%",null,"II型 von Willebrand病","AD,AR",613554,5,1,17,3,"VWF",0.97,76,"同义",13203,"0.47=7/15","位于基因组单拷贝区域+DNA结构正常",7450,"12p13.3","NM_000552.3"]
["12308A(99)v13144",38,21,0.55,"12308A","WARS","chr14:100808845","c.1003G>A(E9)","p.335,L>L","rs9453",0.69,0.79,0.78,0.8,0.79,0.79,"杂合","无关","有rs号，MAF>=5%",15939065,{"$nulls":3},5,null,2,0,"WARS",1,130,"同义",13203,"0.54=35/65","位于基因组单拷贝区域+DNA结构正常",7453,"14q32.31","NM_004184.3"]
["12308A(99)v501",312,2,0.01,"12308A","WBP4","chr13:41645703-41645703","c.480(E6):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"WBP4",1,260,"缺失移码",2140,"0.01=3/367","位于基因组单拷贝区域+简单重复结构",11193,"13q14.11","NM_007187.3"]
["12308A(99)v14344",32,31,0.97,"12308A","WDR25","chr14:100847707","c.446A>G(E2)","p.149,H>R","rs2273800",0.65,0.39,0.42,0.36,0.37,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"WDR25",1,69,"错义",12220,"0.98=55/56","位于基因组单拷贝区域+DNA结构正常",79446,"14q32.2","NM_001161476.1"]
["12308A(99)v9790",16,5,0.31,"12308A","WDR38","chr9:127620141","m.1233A>G(E9)","非编码区","rs876663",0.29,0.35,0.31,0.39,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"WDR38",1,37,"非编码区",14200,"0.23=6/26","位于基因组单拷贝区域+DNA结构正常",401551,"9q33.3","NM_001045476.1"]
["12308A(99)v24641",15,15,1,"12308A","WDR62","chr19:36590329","c.2549T>C(E22)","p.850,L>S","rs2285745",0.65,0.62,0.63,0.61,0.5,0.58,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性原发性小头畸形2型伴或不伴皮质发育畸形","AR",604317,5,1,4,1,"WDR62",0.95,52,"错义",12220,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",284403,"19q13.12","NM_001083961.1"]
["12308A(99)v14891",140,66,0.47,"12308A","WDR67","chr8:124138855","c.1812G>A(E13)","p.604,L>L","rs16898012",0.3,0.19,0.2,0.18,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"WDR67",1,250,"同义",13203,"0.47=123/261","位于基因组单拷贝区域+DNA结构正常",93594,"8q24.13","NM_001145088.1"]
["12308A(99)v11449",7,6,0.86,"12308A","WDR90","chr16:717523","c.5181G>T(E41)","p.1727,P>P","rs3752493",0.7,0.99,1,0.99,0.89,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"WDR90",0.87,12,"同义",13203,"0.90=9/10","位于基因组单拷贝区域+DNA结构正常",197335,"16p13.3","NM_145294.4"]
["12308A(99)v11672",104,56,0.54,"12308A","WDYHV1","chr8:124449466","c.400C>T(E5)","p.134,R>C","rs3824250",0.41,0.55,0.57,0.54,0.54,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"WDYHV1",0.99,200,"错义",12210,"0.55=91/166","位于基因组单拷贝区域+DNA结构正常",55093,"8q24.13","NM_018024.1"]
["12308A(99)v17990",2,1,0.5,"12308A","WFS1","chr4:6304188","c.2666C>A(E8)","p.889,A>E","rs147934586",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",null,"WOLFRAM 样综合征（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AD",614296,2,1,11,5,"WFS1",0.94,32,"错义",12310,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_001145853.1"]
["12308A(99)v7580",111,110,0.99,"12308A","WNK1","chr12:990912","c.3946A>C(E13)","p.1316,T>P","rs956868",0.85,0.81,0.81,0.8,0.77,0.8,"纯合","无关","有rs号，MAF>=5%","19347040;19584173","遗传性感觉自主神经病IIA型","AR",201300,5,1,6,2,"WNK1",0.92,150,"错义",12220,"0.99=190/192","位于基因组单拷贝区域+DNA结构正常",65125,"12p13.3","NM_001184985.1"]
["12308A(99)v7583",87,87,1,"12308A","WNK1","chr12:939302","c.1287A>G(E4)","p.429,A>A","rs10774466",0.69,0.88,0.88,0.87,0.88,0.87,"纯合","无关","有rs号，MAF>=5%",18809789,"遗传性感觉自主神经病IIA型","AR",201300,5,1,6,2,"WNK1",0.92,150,"同义",13203,"1.00=159/159","位于基因组单拷贝区域+DNA结构正常",65125,"12p13.3","NM_001184985.1"]
["12308A(99)v7447",92,92,1,"12308A","WWP2","chr16:69967897","c.1359T>C(E14)","p.453,H>H","rs2270841",0.85,0.96,0.97,0.95,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"WWP2",1,110,"同义",13203,"0.99=171/172","位于基因组单拷贝区域+DNA结构正常",11060,"16q22.1","NM_001270453.1"]
["12308A(99)v31503",115,48,0.42,"12308A","XIRP2","chr2:168104627","c.6059G>A(E7)","p.2020,R>Q","rs61750760",0.2,0.12,0.13,0.12,0.092,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"XIRP2",0.99,150,"错义",12220,"0.45=89/199","位于基因组单拷贝区域+DNA结构正常",129446,"2q24.3","NM_001199144.1"]
["12308A(99)v17639",68,68,1,"12308A","XRCC1","chr19:44047550","c.1896T>C(E17)","p.632,Q>Q","rs3547",0.71,0.89,0.87,0.91,0.87,0.89,"纯合","无关","有rs号，MAF>=5%","17425776;19029194",{"$nulls":3},5,null,6,0,"XRCC1",1,72,"同义",13203,"1.00=109/109","位于基因组单拷贝区域+DNA结构正常",7515,"19q13.2","NM_006297.2"]
["12308A(99)v9691",8,3,0.38,"12308A","XYLT2","chr17:48437456","c.2402C>G(E11)","p.801,T>R","rs6504649",0.25,0.072,0.071,0.073,0.083,0.084,"杂合","无关","有疾病相关报道，MAF>=5%","OMIM数据库,SWISS数据库","弹性纤维假黄瘤","AR",264800,5,3,1,1,"XYLT2",0.89,26,"错义",11200,"0.38=5/13","位于基因组单拷贝区域+DNA结构正常",64132,"17q21.33","NM_022167.2"]
["12308A(99)v31583",32,32,1,"12308A","YY2","chrX:21875365","c.763C>T(E1)","p.255,P>S",{"$nulls":7},"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"YY2",1,48,"错义",12420,"0.98=49/50","位于基因组单拷贝区域+DNA结构正常",404281,"Xp22.2-p22.1","NM_206923.3"]
["12308A(99)v23859",223,104,0.47,"12308A","ZAK","chr2:174103160","c.1263T>C(E15)","p.421,I>I","rs3739103",0.15,0.53,0.54,0.52,0.53,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZAK",1,190,"同义",13203,"0.48=189/396","位于基因组单拷贝区域+DNA结构正常",51776,"2q24.2","NM_016653.2"]
["12308A(99)v18919",30,30,1,"12308A","ZBED4","chr22:50278642","c.1332C>T(E2)","p.444,G>G","rs910800",0.6,0.81,0.79,0.84,0.85,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZBED4",1,44,"同义",13203,"1.00=51/51","位于基因组单拷贝区域+DNA结构正常",9889,"22q13.33","NM_014838.2"]
["12308A(99)v21459",5,1,0.2,"12308A","ZBTB7A","chr19:4054833","c.398G>A(E2)","p.133,A>V","rs77059506",{"$nulls":6},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ZBTB7A",0.73,5.4,"错义",12320,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",51341,"19p13.3","NM_015898.2"]
["12308A(99)v21936",43,43,1,"12308A","ZC3H18","chr16:88644005","c.474A>G(E2)","p.158,K>K","rs899728",0.86,0.97,0.98,0.97,0.92,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZC3H18",0.91,68,"同义",13203,"1.00=70/70","位于基因组单拷贝区域+DNA结构正常",124245,"16q24.2","NM_144604.3"]
["12308A(99)v2295",1,1,1,"12308A","ZDHHC3","chr3:44966107","m.3248C>A(E7)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZDHHC3",1,140,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",51304,"3p21.31","NM_001135179.1"]
["12308A(99)v21101",98,47,0.48,"12308A","ZFHX4","chr8:77764207","c.5050G>A(E10)","p.1684,A>T","rs28432935",0.15,0.38,0.37,0.39,0.44,0.38,"杂合","无关","有rs号，MAF>=5%",null,"先天性遗传性上睑下垂症1型","AD",178300,5,1,2,1,"ZFHX4",1,110,"错义",12220,"0.47=73/155","位于基因组单拷贝区域+DNA结构正常",79776,"8q21.11","NM_024721.4"]
["12308A(99)v15117",32,6,0.19,"12308A","ZFYVE21","chr14:104199491-104199492","m.993(E8)至m.994(E8):插入AAAC","非编码区","rs143367739",0.054,0.0024,0,0.0049,0.0044,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ZFYVE21",0.75,57,"非编码区",2420,"0.19=7/37","位于基因组单拷贝区域+DNA结构正常",79038,"14q32.33","NM_001198953.1"]
["12308A(99)v19377",45,45,1,"12308A","ZIM3","chr19:57646218","m.1873C>T(E5)","非编码区","rs17305549",0.13,0.44,0.44,0.43,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZIM3",1,130,"非编码区",14200,"1.00=57/57","位于基因组单拷贝区域+DNA结构正常",114026,"-","NM_052882.1"]
["12308A(99)v10519",42,17,0.4,"12308A","ZNF132","chr19:58946056","c.755G>A(E3)","p.252,P>L","rs1465789",0.5,0.34,0.36,0.33,0.29,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF132",1,120,"错义",12220,"0.45=26/58","位于基因组单拷贝区域+DNA结构正常",7691,"19q13.4","NM_003433.3"]
["12308A(99)v28509",19,19,1,"12308A","ZNF138","chr7:64292695","m.1388G>A(E5)","非编码区","rs6460195",0.24,0.16,0.17,0.14,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF138",1,200,"非编码区",14200,"1.00=33/33","位于基因组多拷贝区域+DNA结构正常",7697,"7q11.21","NM_001160183.1"]
["12308A(99)v26744",37,12,0.32,"12308A","ZNF169","chr9:97062981","c.1141C>T(E5)","p.381,R>C","rs12236219",0.17,0.37,0.41,0.32,0.33,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF169",1,93,"错义",12210,"0.34=18/53","位于基因组多拷贝区域+DNA结构正常",169841,"9q22.32","NM_194320.2"]
["12308A(99)v21624",5,5,1,"12308A","ZNF195","chr11:3400422","m.31C>T(E1)","非编码区","rs6578342",0.87,0.99,0.99,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF195",0.99,110,"非编码区",14200,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",7748,"11p15.5","NM_001130519.2"]
["12308A(99)v8227",68,68,1,"12308A","ZNF208","chr19:22154732","c.3104T>C(E4)","p.1035,D>G","rs8108957",0.57,0.75,0.72,0.79,0.67,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF208",1,110,"错义",12220,"1.00=108/108","位于基因组多拷贝区域+DNA结构正常",7757,"19p12","NM_007153.3"]
["12308A(99)v28682",2,1,0.5,"12308A","ZNF236","chr18:74682214","m.7655C>T(E31)","非编码区","rs1044088",0.36,0.26,0.29,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF236",1,150,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",7776,"18q22-q23","NM_007345.3"]
["12308A(99)v27410",107,41,0.38,"12308A","ZNF280A","chr22:22869742","c.213C>A(E2)","p.71,K>N","rs361959",0.47,0.43,0.41,0.45,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ZNF280A",1,130,"错义",12220,"0.40=67/169","位于基因组单拷贝区域+DNA结构正常",129025,"22q11.22","NM_080740.3"]
["12308A(99)v15464",166,72,0.43,"12308A","ZNF30","chr19:35420841","m.368A>G(E2)","非编码区","rs2546001",0.62,0.39,0.41,0.37,0.39,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF30",1,180,"非编码区",14200,"0.45=133/297","位于基因组单拷贝区域+DNA结构正常",90075,"19q13.11","NM_001099437.1"]
["12308A(99)v21889",23,23,1,"12308A","ZNF335","chr20:44578674","c.3522T>A(E23)","p.1174,P>P","rs16990951",0.23,0.37,0.33,0.41,0.36,0.37,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性原发性小头畸形10型","AR",615095,5,1,5,1,"ZNF335",0.95,33,"同义",13203,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",63925,"20q13.12","NM_022095.3"]
["12308A(99)v17220",3,3,1,"12308A","ZNF414","chr19:8576307","m.1106A>G(E6)","非编码区","rs2910443",0.63,0.7,0.65,0.75,null,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF414",0.41,8.5,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",84330,"19p13.2","NM_032370.2"]
["12308A(99)v31405",79,3,0.04,"12308A","ZNF436","chr1:23689187-23689187","c.688(E4):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,3,0,"ZNF436",1,140,"缺失移码",2140,"0.03=3/87","位于基因组多拷贝区域+简单重复结构",80818,"1p36","NM_001077195.1"]
["12308A(99)v26937",7,7,1,"12308A","ZNF469","chr16:88505734","c.11772C>T(E2)","p.3924,S>S","rs4782362",0.99,1,1,1,0.87,1,"纯合","无关","有rs号，MAF>=5%",null,"脆性角膜综合症1型","AR",229200,5,1,12,1,"ZNF469",0.81,11,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",84627,"16q24","NM_001127464.1"]
["12308A(99)v26417",140,140,1,"12308A","ZNF501","chr3:44775962","c.49A>G(E3)","p.17,M>V","rs4682752",0.7,0.9,0.91,0.89,0.87,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF501",1,210,"错义",12220,"1.00=240/240","位于基因组单拷贝区域+DNA结构正常",115560,"3p21.31","NM_001258280.1"]
["12308A(99)v25128",70,70,1,"12308A","ZNF518B","chr4:10446906","c.1047A>G(E3)","p.349,D>D","rs10016022",0.8,0.78,0.77,0.79,0.79,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF518B",1,110,"同义",13203,"1.00=98/98","位于基因组单拷贝区域+DNA结构正常",85460,"4p16.1","NM_053042.2"]
["12308A(99)v15617",42,42,1,"12308A","ZNF557","chr19:7083761","m.1772A>G(E8)","非编码区","rs8110740",0.45,0.5,0.48,0.53,null,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF557",1,190,"非编码区",14200,"1.00=57/57","位于基因组多拷贝区域+DNA结构正常",79230,"19p13.2","NM_001044387.1"]
["12308A(99)v20979",28,28,1,"12308A","ZNF595","chr4:86101-86102","c.706(E4)至c.707(E4):插入C","插入移码","rs397738066",null,1,1,1,0.028,1,"纯合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,7,0,"ZNF595",0.99,260,"插入移码",2130,"1.00=29/29","位于基因组多拷贝区域+DNA结构正常",152687,"4p16.3","NM_182524.2"]
["12308A(99)v16246",85,37,0.44,"12308A","ZNF623","chr8:144732450","c.288G>A(E2)","p.96,S>S","rs3750204",0.31,0.39,0.4,0.38,0.4,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF623",1,120,"同义",13203,"0.49=68/140","位于基因组单拷贝区域+DNA结构正常",9831,"8q24.3","NM_001082480.2"]
["12308A(99)v7002",12,12,1,"12308A","ZNF626","chr19:20806770-20806771","m.2063(E4)至m.2062(E4):插入CA","非编码区","rs34554673",0.78,0.82,0.83,0.82,0.083,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,11,0,"ZNF626",0.98,140,"非编码区",2420,"1.00=12/12","位于基因组多拷贝区域+DNA结构正常",199777,"19p12","NM_001076675.2"]
["12308A(99)v17565",60,60,1,"12308A","ZNF681","chr19:23926332","m.2162G>A(E4)","非编码区","rs10405811",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF681",1,130,"非编码区",14200,"1.00=103/103","位于基因组多拷贝区域+DNA结构正常",148213,"19p12","NM_138286.2"]
["12308A(99)v14071",77,31,0.4,"12308A","ZNF701","chr19:53085813","c.699T>C(E5)","p.233,A>A","rs3745101",0.29,0.36,0.33,0.38,0.41,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF701",0.96,180,"同义",13203,"0.42=52/123","位于基因组多拷贝区域+DNA结构正常",55762,"19q13.41","NM_001172655.1"]
["12308A(99)v10315",289,101,0.35,"12308A","ZNF717","chr3:75786623","c.2151G>T(E5)","p.717,I>I","rs112829115",{"$nulls":4},0.46,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,44,0,"ZNF717",1,470,"同义",13303,"0.36=161/451","位于基因组多拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223.1"]
["12308A(99)v10341",600,143,0.24,"12308A","ZNF717","chr3:75788152-75788152","c.622(E5):缺失T插入GC","复杂移码","rs201687061",{"$nulls":4},0.096,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,44,0,"ZNF717",1,470,"复杂移码",2130,"0.23=155/663","位于基因组单拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223.1"]
["12308A(99)v29557",26,8,0.31,"12308A","ZNF761","chr19:53960688-53960692","m.3386(E6)至m.3390(E6):缺失CTTCA","非编码区","rs149377914",0.052,0.16,0.17,0.14,0.005,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,7,0,"ZNF761",1,230,"非编码区",2420,"0.30=9/30","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12308A(99)v20859",105,47,0.45,"12308A","ZNF765","chr19:53911973","c.1165A>G(E4)","p.389,S>G","rs10425136",0.77,0.67,0.7,0.65,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"错义",12220,"0.47=77/164","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12308A(99)v20860",33,17,0.52,"12308A","ZNF765","chr19:53913555","m.2870C>G(E4)","非编码区","rs6509753",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"非编码区",14200,"0.52=30/58","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12308A(99)v20861",20,9,0.45,"12308A","ZNF765","chr19:53914108","m.3423C>T(E4)","非编码区","rs2068630",0.76,0.68,0.7,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"非编码区",14200,"0.48=14/29","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12308A(99)v20862",62,33,0.53,"12308A","ZNF765","chr19:53912770","m.2085G>A(E4)","非编码区","rs12461238",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"非编码区",14200,"0.54=53/99","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12308A(99)v20863",73,34,0.47,"12308A","ZNF765","chr19:53912548","m.1863T>C(E4)","非编码区","rs7246019",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"非编码区",14200,"0.48=55/115","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12308A(99)v20864",75,21,0.28,"12308A","ZNF765","chr19:53912805-53912806","m.2120(E4)至m.2121(E4):插入AC","非编码区","rs35942807",null,0.67,0.7,0.65,0.11,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"ZNF765",1,250,"非编码区",2430,"0.29=23/80","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12308A(99)v23400",154,81,0.53,"12308A","ZNF77","chr19:2936623","c.210C>T(E3)","p.70,E>E","rs4807371",0.84,0.56,0.55,0.57,0.5,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF77",1,120,"同义",13203,"0.56=146/260","位于基因组单拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12308A(99)v23401",78,46,0.59,"12308A","ZNF77","chr19:2934282","c.843T>C(E4)","p.281,S>S","rs3746073",0.84,0.56,0.55,0.57,0.51,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF77",1,120,"同义",13203,"0.56=77/137","位于基因组多拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12308A(99)v23402",51,21,0.41,"12308A","ZNF77","chr19:2933480","m.1776C>T(E4)","非编码区","rs3786948",0.67,0.56,0.55,0.57,null,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF77",1,120,"非编码区",14200,"0.41=25/61","位于基因组单拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12308A(99)v15470",35,17,0.49,"12308A","ZNF770","chr15:35273620","c.2016C>T(E3)","p.672,Q>Q","rs4923849",0.47,0.38,0.4,0.37,0.29,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF770",1,110,"同义",13203,"0.46=21/46","位于基因组多拷贝区域+DNA结构正常",54989,"15q14","NM_014106.3"]
["12308A(99)v11140",70,70,1,"12308A","ZNF772","chr19:57985460","c.652T>A(E5)","p.218,M>L","rs2074059",null,0.69,0.68,0.71,0.73,0.72,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ZNF772",1,160,"错义",12320,"1.00=108/108","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12308A(99)v11141",78,78,1,"12308A","ZNF772","chr19:57984918","c.1194A>G(E5)","p.398,S>S","rs2074058",0.41,0.63,0.6,0.66,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF772",1,160,"同义",13203,"1.00=118/118","位于基因组多拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12308A(99)v11142",110,110,1,"12308A","ZNF772","chr19:57985566","c.546G>C(E5)","p.182,C>W","rs2074060",0.68,0.69,0.68,0.71,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF772",1,160,"错义",12220,"1.00=172/172","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12308A(99)v11143",6,5,0.83,"12308A","ZNF772","chr19:57988666-57988667","c.12(E1)至c.11(E1):插入GCC","插入非移码","rs528587884",0.41,0.62,0.59,0.65,0.078,0.63,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,4,0,"ZNF772",1,160,"插入非移码",2222,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12308A(99)v6487",24,24,1,"12308A","ZNF773","chr19:58018848","m.1525A>G(E4)","非编码区","rs2066936",0.44,0.62,0.58,0.66,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF773",1,190,"非编码区",14200,"1.00=28/28","位于基因组多拷贝区域+DNA结构正常",374928,"19q13.43","NM_198542.1"]
["12308A(99)v20626",83,82,0.99,"12308A","ZNF774","chr15:90903311","c.248A>G(E4)","p.83,N>S","rs2589957",0.69,0.84,0.86,0.83,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",18817904,{"$nulls":3},5,null,1,0,"ZNF774",1,140,"错义",12220,"0.99=126/127","位于基因组单拷贝区域+DNA结构正常",342132,"15q26.1","NM_001004309.2"]
["12308A(99)v1986",2,2,1,"12308A","ZNF775","chr7:150093701","c.132A>C(E3)","p.44,I>I","rs940453",0.84,0.81,0.78,0.84,0.6,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF775",0.46,1.9,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",285971,"7q36.1","NM_173680.3"]
["12308A(99)v19790",5,5,1,"12308A","ZNF776","chr19:58266192","m.1957C>T(E3)","非编码区","rs12609667",0.3,0.45,0.47,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,200,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",284309,"19q13.43","NM_173632.3"]
["12308A(99)v19791",3,3,1,"12308A","ZNF776","chr19:58258466","IVS1+7G>T","非编码区","rs60751243",0.28,0.47,0.49,0.46,0.41,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,200,"非编码区",16203,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",284309,"19q13.43","NM_173632.3"]
["12308A(99)v22576",56,56,1,"12308A","ZNF777","chr7:149152906","c.208G>A(E2)","p.70,R>W","rs3735318",0.6,0.8,0.82,0.78,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF777",0.89,35,"错义",12220,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",27153,"7q36.1","NM_015694.2"]
["12308A(99)v22577",28,28,1,"12308A","ZNF777","chr7:149152770","c.344A>G(E2)","p.115,V>A","rs3735319",0.66,0.8,0.83,0.78,0.77,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF777",0.89,35,"错义",12220,"0.98=41/42","位于基因组单拷贝区域+DNA结构正常",27153,"7q36.1","NM_015694.2"]
["12308A(99)v4849",4,3,0.75,"12308A","ZNF778","chr16:89295046","m.2689T>C(E7)","非编码区","rs12927047",0.23,0.11,0.12,0.1,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF778",0.96,140,"非编码区",14200,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12308A(99)v4850",118,116,0.98,"12308A","ZNF778","chr16:89289624","c.177G>A(E4)","p.59,L>L","rs12920028",0.12,0.1,0.12,0.083,0.094,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF778",0.96,140,"同义",13203,"0.99=200/203","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12308A(99)v4851",23,23,1,"12308A","ZNF778","chr16:89287481","m.285C>A(E2)","非编码区","rs117976521",0.04,0.082,0.09,0.073,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF778",0.96,140,"非编码区",14100,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12308A(99)v4852",82,82,1,"12308A","ZNF778","chr16:89294798","c.2102A>G(E7)","p.701,Y>C","rs118093429",0.041,0.082,0.09,0.073,0.073,0.086,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ZNF778",0.96,140,"错义",12110,"1.00=139/139","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12308A(99)v4853",60,60,1,"12308A","ZNF778","chr16:89293291","c.595G>A(E7)","p.199,V>M","rs117690401",0.041,0.082,0.09,0.073,0.079,0.085,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ZNF778",0.96,140,"错义",12120,"1.00=94/94","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12308A(99)v12048",78,40,0.51,"12308A","ZNF780A","chr19:40582039","c.310T>A(E6)","p.104,I>L","rs74805553",0.024,0.12,0.12,0.13,0.16,0.15,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ZNF780A",1,250,"错义",12120,"0.54=67/124","位于基因组多拷贝区域+DNA结构正常",284323,"19q13.2","NM_001010880.2"]
["12308A(99)v12049",1,1,1,"12308A","ZNF780A","chr19:40575163","m.4146C>T(E9)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZNF780A",1,250,"非编码区",14400,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",284323,"19q13.2","NM_001142579.1"]
["12308A(99)v12050",1,1,1,"12308A","ZNF780A","chr19:40578253","m.1056A>T(E9)","非编码区","rs337783",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF780A",1,250,"非编码区",14200,"1.00=1/1","位于基因组多拷贝区域+DNA结构正常",284323,"19q13.2","NM_001142579.1"]
["12308A(99)v25540",1,1,1,"12308A","ZNF780B","chr19:40534336","m.8495T>A(E5)","非编码区","rs3754",0.65,0.73,0.76,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF780B",1,230,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",163131,"19q13.2","NM_001005851.2"]
["12308A(99)v9465",23,20,0.87,"12308A","ZNF781","chr19:38159530","m.2262C>T(E4)","非编码区","rs2927747",0.63,0.4,0.38,0.41,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF781",1,170,"非编码区",14200,"0.78=29/37","位于基因组多拷贝区域+DNA结构正常",163115,"19q13.12","NM_152605.3"]
["12308A(99)v26907",34,17,0.5,"12308A","ZNF782","chr9:99580199","m.2387A>G(E6)","非编码区","rs73654606",0.19,0.22,0.2,0.24,null,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,130,"非编码区",14200,"0.47=25/53","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12308A(99)v26908",70,39,0.56,"12308A","ZNF782","chr9:99581916","c.389C>G(E6)","p.130,R>P","rs7870376",0.22,0.32,0.29,0.35,0.35,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,130,"错义",12220,"0.56=61/108","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12308A(99)v26909",69,38,0.55,"12308A","ZNF782","chr9:99581811","c.494C>T(E6)","p.165,R>H","rs4645656",0.27,0.32,0.29,0.35,0.36,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,130,"错义",12220,"0.55=54/99","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12308A(99)v5580",1,1,1,"12308A","ZNF787","chr19:56599063","m.1597A>G(E3)","非编码区","rs1050730",0.44,0.29,0.25,0.33,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF787",0.39,2.9,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",126208,"19q13.43","NM_001002836.2"]
["12308A(99)v8814",149,2,0.01,"12308A","ZNF79","chr9:130198217-130198218","c.263(E4)至c.264(E4):缺失CC","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"ZNF79",1,120,"缺失移码",2140,"0.01=2/170","位于基因组单拷贝区域+DNA结构正常",7633,"9q34","NM_007135.2"]
["12308A(99)v8815",254,2,0.01,"12308A","ZNF79","chr9:130191194-130191194","c.100(E2):缺失C","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"ZNF79",1,120,"缺失移码",2140,"0.01=2/288","位于基因组单拷贝区域+DNA结构正常",7633,"9q34","NM_007135.2"]
["12308A(99)v9536",81,34,0.42,"12308A","ZNF790","chr19:37310344","c.902T>C(E5)","p.301,Q>R","rs3745775",0.29,0.24,0.21,0.26,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF790",1,160,"错义",12210,"0.37=47/126","位于基因组多拷贝区域+DNA结构正常",388536,"19q13.12","NM_001242800.1"]
["12308A(99)v31286",31,18,0.58,"12308A","ZNF791","chr19:12740103","m.1922A>T(E4)","非编码区","rs79706280",0.014,0.055,0.043,0.068,null,0.067,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF791",1,150,"非编码区",14100,"0.62=23/37","位于基因组单拷贝区域+DNA结构正常",163049,"19p13.2","NM_153358.2"]
["12308A(99)v13249",8,4,0.5,"12308A","ZNF792","chr19:35454604","m.350A>C(E1)","非编码区","rs2546028",0.64,0.65,0.67,0.63,null,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"非编码区",14200,"0.56=5/9","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12308A(99)v13250",66,38,0.58,"12308A","ZNF792","chr19:35449409","c.1350G>A(E4)","p.450,H>H","rs2651081",0.33,0.19,0.18,0.21,0.25,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"同义",13203,"0.57=63/111","位于基因组多拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12308A(99)v13251",8,4,0.5,"12308A","ZNF792","chr19:35454605","m.349A>G(E1)","非编码区","rs2546029",0.64,0.65,0.67,0.63,null,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"非编码区",14200,"0.56=5/9","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12308A(99)v13252",41,21,0.51,"12308A","ZNF792","chr19:35450229","c.530C>T(E4)","p.177,R>Q","rs2651079",0.63,0.64,0.66,0.62,0.63,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"错义",12220,"0.44=29/66","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12308A(99)v13253",26,17,0.65,"12308A","ZNF792","chr19:35448803","m.2343C>A(E4)","非编码区","rs1063235",0.65,0.64,0.67,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"非编码区",14200,"0.67=28/42","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12308A(99)v13254",37,21,0.57,"12308A","ZNF792","chr19:35449760","c.999G>C(E4)","p.333,T>T","rs2651080",0.32,0.19,0.18,0.21,0.24,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"同义",13203,"0.56=31/55","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12308A(99)v76",134,133,0.99,"12308A","ZNF799","chr19:12502457","c.755A>G(E4)","p.252,L>P","rs4804669",0.72,0.54,0.5,0.58,0.55,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF799",1,270,"错义",12220,"0.99=225/227","位于基因组多拷贝区域+DNA结构正常",90576,"19p13.2","NM_001080821.2"]
["12308A(99)v12991",69,26,0.38,"12308A","ZNF80","chr3:113955164","c.758T>G(E1)","p.253,D>A","rs3732782",0.69,0.56,0.6,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",19217756,{"$nulls":3},5,null,4,0,"ZNF80",1,96,"错义",12220,"0.36=43/118","位于基因组单拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136.3"]
["12308A(99)v12992",75,34,0.45,"12308A","ZNF80","chr3:113955320","c.602C>T(E1)","p.201,R>H","rs6438191",0.69,0.56,0.59,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,96,"错义",12220,"0.46=61/133","位于基因组多拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136.3"]
["12308A(99)v12993",77,32,0.42,"12308A","ZNF80","chr3:113955265","c.657G>A(E1)","p.219,C>C","rs6438190",0.69,0.56,0.59,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,96,"同义",13203,"0.39=45/116","位于基因组多拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136.3"]
["12308A(99)v12994",54,23,0.43,"12308A","ZNF80","chr3:113955820","c.102G>C(E1)","p.34,S>S","rs3732780",0.31,0.38,0.42,0.34,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,96,"同义",13203,"0.41=36/87","位于基因组单拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136.3"]
["12308A(99)v23254",65,1,0.02,"12308A","ZNF800","chr7:127013428-127013428","c.1962(E5):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,1,0,"ZNF800",1,140,"缺失移码",2140,"0.03=2/75","位于基因组单拷贝区域+DNA结构正常",168850,"7q31.33","NM_176814.3"]
["12308A(99)v3564",46,20,0.43,"12308A","ZNF804A","chr2:185803806","m.4277T>G(E4)","非编码区","rs77067231",0.012,0.065,0.052,0.078,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,9,0,"ZNF804A",1,130,"非编码区",14100,"0.49=38/78","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v3565",29,17,0.59,"12308A","ZNF804A","chr2:185803364","c.3241C>G(E4)","p.1081,L>V","rs3731834",0.15,0.21,0.2,0.21,0.23,0.21,"杂合","无关","有rs号，MAF>=5%","14681825;22871346;23155182",{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"错义",12220,"0.63=22/35","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v3566",53,53,1,"12308A","ZNF804A","chr2:185802363","c.2240A>G(E4)","p.747,H>R","rs12477430",0.7,0.88,0.9,0.85,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",19844207,{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"错义",12220,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v3567",110,110,1,"12308A","ZNF804A","chr2:185802243","c.2120C>A(E4)","p.707,T>K","rs1366842",0.49,0.86,0.89,0.83,0.8,0.85,"纯合","无关","有rs号，MAF>=5%","14681825;22871346",{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"错义",12220,"1.00=189/189","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v3568",41,40,0.98,"12308A","ZNF804A","chr2:185801755","c.1632A>G(E4)","p.544,T>T","rs4667002",0.79,0.89,0.91,0.87,0.86,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF804A",1,130,"同义",13203,"0.98=60/61","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v3569",41,41,1,"12308A","ZNF804A","chr2:185801747","c.1624G>A(E4)","p.542,E>K","rs4667001",0.49,0.86,0.89,0.83,0.79,0.85,"纯合","无关","有rs号，MAF>=5%","19844207;23155182",{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"错义",12220,"1.00=60/60","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v3570",67,67,1,"12308A","ZNF804A","chr2:185800905","c.782A>T(E4)","p.261,Q>L","rs12476147",0.62,0.85,0.88,0.81,0.8,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF804A",1,130,"错义",12220,"1.00=106/106","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v3571",34,11,0.32,"12308A","ZNF804A","chr2:185801917","c.1794A>G(E4)","p.598,K>K","rs728534",0.16,0.25,0.23,0.26,0.21,0.25,"杂合","无关","有rs号，MAF>=5%",14681825,{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"同义",13203,"0.28=13/47","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v3572",137,106,0.77,"12308A","ZNF804A","chr2:185802211-185802212","c.2088(E4)至c.2089(E4):插入ACA","插入非移码","rs5836928",0.49,0.86,0.89,0.83,0.12,0.85,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,9,0,"ZNF804A",1,130,"插入非移码",2221,"0.77=117/152","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12308A(99)v26708",135,69,0.51,"12308A","ZNF804B","chr7:88956699","c.291A>G(E3)","p.97,V>V","rs38971",0.31,0.69,0.67,0.7,0.67,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF804B",1,160,"同义",13203,"0.51=125/246","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12308A(99)v26709",133,133,1,"12308A","ZNF804B","chr7:88964196","c.1900T>A(E4)","p.634,F>I","rs801840",0.52,0.68,0.67,0.68,0.6,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF804B",1,160,"错义",12220,"1.00=227/227","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12308A(99)v26710",73,73,1,"12308A","ZNF804B","chr7:88964000","c.1704C>T(E4)","p.568,F>F","rs801839",0.51,0.68,0.67,0.68,0.59,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF804B",1,160,"同义",13203,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12308A(99)v26711",103,103,1,"12308A","ZNF804B","chr7:88963039","c.743G>A(E4)","p.248,C>Y","rs1916830",0.15,0.45,0.44,0.47,0.43,0.46,"纯合","无关","有rs号，MAF>=5%",20547088,{"$nulls":3},5,null,5,0,"ZNF804B",1,160,"错义",12210,"0.99=183/184","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12308A(99)v26712",169,4,0.02,"12308A","ZNF804B","chr7:88847461-88847461","IVS1-8:缺失T","非编码区",{"$nulls":7},"杂合","无关","内含子突变",{"$nulls":4},5,null,5,0,"ZNF804B",1,160,"非编码区",2500,"0.02=4/182","位于基因组单拷贝区域+简单重复结构",219578,"7q21.13","NM_181646.2"]
["12308A(99)v9038",77,48,0.62,"12308A","ZNF805","chr19:57760057","c.242G>A(E3)","p.81,G>D","rs3746231",0.37,0.17,0.16,0.18,0.19,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF805",1,190,"错义",12220,"0.64=91/143","位于基因组多拷贝区域+DNA结构正常",390980,"19q13.43","NM_001023563.3"]
["12308A(99)v9039",93,46,0.49,"12308A","ZNF805","chr19:57765432","c.1245A>G(E4)","p.415,K>K","rs8100154",0.37,0.18,0.18,0.19,0.22,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF805",1,190,"同义",13203,"0.50=85/170","位于基因组多拷贝区域+DNA结构正常",390980,"19q13.43","NM_001023563.3"]
["12308A(99)v9040",86,51,0.59,"12308A","ZNF805","chr19:57760018","c.203G>A(E3)","p.68,G>E","rs2014572",0.37,0.19,0.18,0.19,0.22,0.24,"杂合","无关","有rs号，MAF>=5%",18821565,{"$nulls":3},5,null,4,0,"ZNF805",1,190,"错义",12210,"0.63=105/167","位于基因组多拷贝区域+DNA结构正常",390980,"19q13.43","NM_001023563.3"]
["12308A(99)v9041",125,51,0.41,"12308A","ZNF805","chr19:57764770","c.583G>A(E4)","p.195,V>I","rs10421632",0.37,0.19,0.18,0.19,0.22,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF805",1,190,"错义",12220,"0.44=89/203","位于基因组多拷贝区域+DNA结构正常",390980,"19q13.43","NM_001023563.3"]
["12308A(99)v26167",31,24,0.77,"12308A","ZNF808","chr19:53059235","m.3243T>G(E5)","非编码区","rs9676916",0.3,0.5,0.48,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF808",1,220,"非编码区",14200,"0.77=34/44","位于基因组多拷贝区域+DNA结构正常",388558,"19q13.41","NM_001039886.3"]
["12308A(99)v13721",37,37,1,"12308A","ZNF813","chr19:53995750","m.2392C>T(E4)","非编码区","rs2708843",0.5,0.31,0.28,0.34,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"1.00=55/55","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13722",488,260,0.53,"12308A","ZNF813","chr19:53989975","c.105C>T(E3)","p.35,D>D","rs2708793",{"$nulls":4},0.19,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"同义",13303,"0.51=533/1048","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13723",39,21,0.54,"12308A","ZNF813","chr19:53995530","m.2172A>C(E4)","非编码区","rs10402859",0.093,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.47=31/66","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13724",11,4,0.36,"12308A","ZNF813","chr19:53996295","m.2937C>T(E4)","非编码区","rs10409961",0.091,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.55=11/20","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13725",455,116,0.25,"12308A","ZNF813","chr19:53990021","IVS3+9A>G","非编码区","rs201888467",{"$nulls":5},0.097,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"非编码区",16303,"0.26=246/944","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13726",107,107,1,"12308A","ZNF813","chr19:53993670","c.184G>A(E4)","p.62,A>T","rs2617667",0.3,0.24,0.2,0.28,0.21,0.23,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12220,"1.00=196/196","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13727",188,81,0.43,"12308A","ZNF813","chr19:53993988","c.502A>T(E4)","p.168,I>F","rs12460628",0.092,0.11,0.095,0.13,0.098,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12210,"0.43=126/293","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13728",146,72,0.49,"12308A","ZNF813","chr19:53994178","c.692G>A(E4)","p.231,R>K","rs10421308",0.092,0.11,0.095,0.13,0.097,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12220,"0.49=114/231","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13729",151,151,1,"12308A","ZNF813","chr19:53995004","c.1518G>A(E4)","p.506,R>R","rs2708845",0.78,0.64,0.65,0.64,0.6,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"同义",13203,"1.00=261/262","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13730",34,17,0.5,"12308A","ZNF813","chr19:53995691","m.2333A>T(E4)","非编码区","rs2708844",0.22,0.12,0.1,0.15,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.47=22/47","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13731",450,130,0.29,"12308A","ZNF813","chr19:53989945","c.75G>A(E3)","p.25,L>L","rs34008652",{"$nulls":4},0.15,0.16,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"同义",13303,"0.27=257/935","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v13732",33,21,0.64,"12308A","ZNF813","chr19:53996130-53996131","m.2772(E4)至m.2773(E4):插入AT","非编码区","rs58474905",0.31,0.24,0.2,0.28,0.034,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"非编码区",2420,"0.63=22/35","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12308A(99)v3410",187,66,0.35,"12308A","ZNF814","chr19:58385748","c.1010G>A(E3)","p.337,A>V","rs145250945",{"$nulls":4},0.49,0.39,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ZNF814",1,240,"错义",12320,"0.34=118/345","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12308A(99)v3411",180,61,0.34,"12308A","ZNF814","chr19:58385762","c.996C>G(E3)","p.332,S>S","rs199732634",{"$nulls":4},0.48,0.27,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ZNF814",1,240,"同义",13303,"0.34=108/319","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12308A(99)v3412",109,41,0.38,"12308A","ZNF814","chr19:58385954","c.804T>C(E3)","p.268,K>K","rs10412929",0.31,0.45,0.47,0.43,0.45,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF814",1,240,"同义",13203,"0.41=73/178","位于基因组单拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12308A(99)v3413",36,36,1,"12308A","ZNF814","chr19:58383921","m.3109C>T(E3)","非编码区","rs4801239",0.81,0.72,0.76,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF814",1,240,"非编码区",14200,"0.98=63/64","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12308A(99)v3414",201,62,0.31,"12308A","ZNF814","chr19:58384784-58384787","c.1974(E3)至c.1971(E3):缺失TCTT","缺失移码",{"$nulls":6},0.0011,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,5,0,"ZNF814",1,240,"缺失移码",2140,"0.32=69/219","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12308A(99)v7860",68,32,0.47,"12308A","ZNF816","chr19:53452965","m.2414C>T(E5)","非编码区","rs3745177",0.35,0.37,0.38,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.44=44/101","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12308A(99)v7861",63,27,0.43,"12308A","ZNF816","chr19:53452944","m.2435T>G(E5)","非编码区","rs1808106",0.45,0.32,0.33,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.40=36/89","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12308A(99)v7862",125,59,0.47,"12308A","ZNF816","chr19:53454543","c.485G>A(E5)","p.162,S>L","rs11084210",0.15,0.2,0.22,0.18,0.21,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"错义",12210,"0.45=87/195","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12308A(99)v7863",115,55,0.48,"12308A","ZNF816","chr19:53453777","c.1251C>T(E5)","p.417,K>K","rs8110062",{"$nulls":4},0.32,0.34,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"ZNF816",1,200,"同义",13303,"0.46=79/170","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12308A(99)v7864",117,57,0.49,"12308A","ZNF816","chr19:53454789","c.239A>T(E5)","p.80,I>N","rs12459008",0.46,0.31,0.33,0.3,0.32,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"错义",12220,"0.45=87/194","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12308A(99)v7865",42,20,0.48,"12308A","ZNF816","chr19:53452769","m.2610A>G(E5)","非编码区","rs1044467",0.45,0.32,0.33,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.48=30/62","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12308A(99)v7866",152,51,0.34,"12308A","ZNF816","chr19:53454475-53454476","c.553(E5)至c.552(E5):插入ACT","插入非移码","rs33949217",0.47,0.21,0.24,0.17,0.07,0.4,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,7,0,"ZNF816",1,200,"插入非移码",2222,"0.33=55/166","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12308A(99)v19518",11,6,0.55,"12308A","ZNF821","chr16:71894055","c.1105G>C(E8)","p.369,Q>E","rs200621442",0.0004,0.0048,0.0095,0,null,0.0032,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ZNF821",0.9,67,"错义",12120,"0.64=9/14","位于基因组单拷贝区域+DNA结构正常",55565,"16q22.2","NM_001201552.1"]
["12308A(99)v19532",6,2,0.33,"12308A","ZNF823","chr19:11832283","m.2192A>G(E4)","非编码区","rs5851",0.52,0.48,0.5,0.46,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF823",1,200,"非编码区",14200,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",55552,"19p13.2","NM_001080493.2"]
["12308A(99)v340",97,53,0.55,"12308A","ZNF83","chr19:53117218","c.600G>A(E6)","p.200,T>T","rs150432044",0.0026,0.0024,0.0048,0,null,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF83",1,140,"同义",13103,"0.53=90/171","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105549.1"]
["12308A(99)v341",101,54,0.53,"12308A","ZNF83","chr19:53117221","c.597A>G(E6)","p.199,H>H","rs183755365",0.0002,0.0024,0.0048,0,null,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF83",1,140,"同义",13103,"0.51=91/178","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105549.1"]
["12308A(99)v342",102,54,0.53,"12308A","ZNF83","chr19:53117224","c.594A>G(E6)","p.198,I>I","rs189613132",0.0002,0.0024,0.0048,0,null,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF83",1,140,"同义",13103,"0.51=91/179","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105549.1"]
["12308A(99)v3157",26,26,1,"12308A","ZNF830","chr17:33288882","c.297T>G(E1)","p.99,H>Q","rs931196",0.88,0.95,0.95,0.94,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF830",1,75,"错义",12220,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857.3"]
["12308A(99)v3158",4,4,1,"12308A","ZNF830","chr17:33289937","m.1389A>T(E1)","非编码区","rs8249",0.55,0.84,0.86,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF830",1,75,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857.3"]
["12308A(99)v22000",7,1,0.14,"12308A","ZNF831","chr20:57768613","c.2539C>T(E1)","p.847,P>S",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ZNF831",0.91,38,"错义",12410,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12308A(99)v22001",8,4,0.5,"12308A","ZNF831","chr20:57768594","c.2520C>T(E1)","p.840,S>S","rs144006329",0.0024,0.012,0.0095,0.015,0.039,0.023,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ZNF831",0.91,38,"同义",13103,"0.50=6/12","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12308A(99)v22002",45,27,0.6,"12308A","ZNF831","chr20:57829301","c.4537T>C(E5)","p.1513,S>P","rs259956",0.62,0.89,0.89,0.89,0.86,0.89,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF831",0.91,38,"错义",12220,"0.55=44/80","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12308A(99)v22003",44,15,0.34,"12308A","ZNF831","chr20:57829821-57829822","m.5057(E5)至m.5058(E5):插入TT","非编码区","rs528101238",0.62,0.89,0.89,0.89,0.095,0.89,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"ZNF831",0.91,38,"非编码区",2420,"0.30=16/53","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12308A(99)v10143",15,5,0.33,"12308A","ZNF835","chr19:57176198","c.369T>G(E2)","p.123,S>S","rs8108756",0.47,0.46,0.45,0.47,0.41,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF835",0.95,16,"同义",13203,"0.33=8/24","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12308A(99)v10144",1,1,1,"12308A","ZNF835","chr19:57175484","c.1083A>G(E2)","p.361,P>P","rs7250003",0.47,0.47,0.46,0.47,0.38,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF835",0.95,16,"同义",13203,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12308A(99)v10145",6,1,0.17,"12308A","ZNF835","chr19:57175343","c.1224G>T(E2)","p.408,H>Q",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ZNF835",0.95,16,"错义",12410,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12308A(99)v10146",25,13,0.52,"12308A","ZNF835","chr19:57176304","c.263T>G(E2)","p.88,E>A","rs12460400",0.4,0.46,0.46,0.47,0.44,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF835",0.95,16,"错义",12220,"0.47=23/49","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12308A(99)v10147",34,14,0.41,"12308A","ZNF835","chr19:57176482","c.85C>T(E2)","p.29,E>K","rs12462469",0.41,0.46,0.46,0.47,0.44,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF835",0.95,16,"错义",12220,"0.36=18/50","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12308A(99)v28235",76,75,0.99,"12308A","ZNF836","chr19:52659991","c.945A>G(E5)","p.315,Y>Y","rs1821278",0.5,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"同义",13203,"0.99=131/132","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12308A(99)v28236",88,40,0.45,"12308A","ZNF836","chr19:52658510","c.2426T>C(E5)","p.809,N>S","rs8113504",0.29,0.4,0.44,0.37,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"错义",12220,"0.42=54/128","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12308A(99)v28237",89,89,1,"12308A","ZNF836","chr19:52660279","c.657C>T(E5)","p.219,M>I","rs1366245",0.48,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"错义",12220,"0.99=149/150","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12308A(99)v28238",63,27,0.43,"12308A","ZNF836","chr19:52660783","c.153A>G(E5)","p.51,P>P","rs17696575",0.2,0.19,0.17,0.21,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"同义",13203,"0.46=48/104","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12308A(99)v1597",110,52,0.47,"12308A","ZNF839","chr14:102792386","c.5T>C(E2)","p.2,L>P","rs7158731",0.42,0.35,0.3,0.4,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF839",0.9,81,"错义",12220,"0.46=83/181","位于基因组多拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12308A(99)v1598",72,36,0.5,"12308A","ZNF839","chr14:102798055","c.940G>A(E3)","p.314,A>T","rs1543540",0.17,0.3,0.25,0.35,0.32,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF839",0.9,81,"错义",12220,"0.45=53/119","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12308A(99)v1599",51,31,0.61,"12308A","ZNF839","chr14:102792631","c.250G>A(E2)","p.84,D>N","rs7158139",0.42,0.35,0.3,0.4,0.35,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF839",0.9,81,"错义",12220,"0.59=40/68","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12308A(99)v1600",15,3,0.2,"12308A","ZNF839","chr14:102808556-102808562","m.2826(E8)至m.2832(E8):缺失TGGAGCC插入CG","非编码区","rs34220197,rs57469946,rs16414",{"$nulls":4},5.3E-3,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ZNF839",0.9,81,"非编码区",2430,"0.18=3/17","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12308A(99)v18124",132,131,0.99,"12308A","ZNF84","chr12:133634450","c.1149A>C(E5)","p.383,A>A","rs115172135",{"$nulls":4},1,null,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF84",1,310,"同义",13303,"1.00=206/207","位于基因组多拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12308A(99)v18125",26,26,1,"12308A","ZNF84","chr12:133635613","m.2663T>C(E5)","非编码区","rs114972238",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZNF84",1,310,"非编码区",14300,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12308A(99)v18126",56,34,0.61,"12308A","ZNF84","chr12:133633536","IVS4-4A>G","剪切位点","rs202097614",{"$nulls":6},"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"ZNF84",1,310,"剪切位点",16302,"0.61=44/72","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12308A(99)v14387",110,62,0.56,"12308A","ZNF844","chr19:12186611","c.676A>G(E4)","p.226,K>E","rs7259684",0.16,0.055,0.071,0.039,0.059,0.063,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"错义",12220,"0.54=96/178","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12308A(99)v14388",70,36,0.51,"12308A","ZNF844","chr19:12188317","m.2525G>A(E4)","非编码区","rs10424345",0.31,0.07,0.09,0.049,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"非编码区",14200,"0.56=66/118","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12308A(99)v14389",138,60,0.43,"12308A","ZNF844","chr19:12186148","c.213T>C(E4)","p.71,V>V","rs10424893",0.28,0.07,0.09,0.049,0.062,0.14,"杂合","无关","有rs号，MAF>=5%",19087964,{"$nulls":3},5,null,8,0,"ZNF844",1,210,"同义",13203,"0.45=111/245","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12308A(99)v14390",141,75,0.53,"12308A","ZNF844","chr19:12186761","c.826A>G(E4)","p.276,T>A","rs7259845",0.29,0.07,0.09,0.049,0.063,0.087,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"错义",12210,"0.53=111/209","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12308A(99)v14391",79,36,0.46,"12308A","ZNF844","chr19:12187861","c.1926T>G(E4)","p.642,I>M","rs10426017",0.29,0.07,0.09,0.049,0.064,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"错义",12220,"0.39=48/123","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12308A(99)v14392",98,50,0.51,"12308A","ZNF844","chr19:12187210","c.1275A>G(E4)","p.425,V>V","rs6511764",0.29,0.07,0.09,0.049,0.064,0.079,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"同义",13203,"0.52=80/154","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12308A(99)v14393",66,39,0.59,"12308A","ZNF844","chr19:12188266","m.2474A>G(E4)","非编码区","rs10426455",0.29,0.075,0.095,0.053,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"非编码区",14200,"0.64=72/113","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12308A(99)v14394",153,77,0.5,"12308A","ZNF844","chr19:12186857","c.922G>C(E4)","p.308,A>P","rs6511763",0.29,0.07,0.09,0.049,0.063,0.084,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"错义",12220,"0.49=121/247","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12308A(99)v31553",162,162,1,"12308A","ZNF845","chr19:53854397","c.469G>C(E4)","p.157,E>Q","rs10415799",0.34,0.45,0.48,0.43,0.49,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF845",1,220,"错义",12220,"1.00=252/253","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12308A(99)v31554",5,5,1,"12308A","ZNF845","chr19:53858080","m.4269T>C(E4)","非编码区","rs7256235",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF845",1,220,"非编码区",14200,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12308A(99)v10967",18,8,0.44,"12308A","ZNF853","chr7:6656897","c.89A>G(E2)","p.30,Q>R","rs1806552",0.77,0.76,0.76,0.77,0.74,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF853",0.74,15,"错义",12220,"0.56=19/34","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12308A(99)v10968",11,4,0.36,"12308A","ZNF853","chr7:6660790","c.168G>A(E3)","p.56,E>E","rs940873",0.41,0.55,0.54,0.55,0.49,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF853",0.74,15,"同义",13203,"0.47=8/17","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12308A(99)v10969",13,7,0.54,"12308A","ZNF853","chr7:6656830","c.22G>A(E2)","p.8,G>R","rs2243563",0.74,0.76,0.76,0.76,0.72,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF853",0.74,15,"错义",12220,"0.71=15/21","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12308A(99)v11653",137,74,0.54,"12308A","ZNF860","chr3:32031895","c.1324G>A(E2)","p.442,V>I","rs79295539",0.039,0.14,0.17,0.11,0.16,0.12,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,12,0,"ZNF860",1,200,"错义",12120,"0.52=127/245","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11654",132,131,0.99,"12308A","ZNF860","chr3:32031615","c.1044A>C(E2)","p.348,E>D","rs13064905",0.47,0.42,0.43,0.4,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12220,"0.99=213/215","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11655",134,134,1,"12308A","ZNF860","chr3:32031622","c.1051T>C(E2)","p.351,F>L","rs13087612",0.47,0.42,0.43,0.4,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12210,"1.00=215/215","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11656",7,3,0.43,"12308A","ZNF860","chr3:32032743","m.2721T>G(E2)","非编码区","rs13094125",0.43,0.28,0.27,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"非编码区",14200,"0.30=3/10","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11657",124,55,0.44,"12308A","ZNF860","chr3:32031852","c.1281G>A(E2)","p.427,K>K","rs138977513",0.0074,0.036,0.029,0.044,0.04,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF860",1,200,"同义",13103,"0.42=81/195","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11658",62,11,0.18,"12308A","ZNF860","chr3:32032029","c.1458G>A(E2)","p.486,E>E","rs4458400",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF860",1,200,"同义",13303,"0.23=22/97","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11659",137,137,1,"12308A","ZNF860","chr3:32031643","c.1072A>G(E2)","p.358,T>A","rs13065048",0.47,0.42,0.43,0.41,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12220,"1.00=221/221","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11660",138,138,1,"12308A","ZNF860","chr3:32031135","c.564A>G(E2)","p.188,S>S","rs6419811",0.47,0.42,0.43,0.4,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"同义",13203,"1.00=231/232","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11661",62,39,0.63,"12308A","ZNF860","chr3:32030544","m.522C>T(E2)","非编码区","rs11129475",0.39,0.28,0.27,0.29,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"非编码区",14200,"0.60=49/82","位于基因组单拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11662",68,28,0.41,"12308A","ZNF860","chr3:32032397","c.1826G>T(E2)","p.609,R>L","rs4955216",0.43,0.28,0.27,0.29,0.27,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12220,"0.38=39/104","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11663",123,66,0.54,"12308A","ZNF860","chr3:32031024","c.453C>T(E2)","p.151,I>I","rs4449357",0.43,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"同义",13203,"0.54=107/198","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v11664",94,94,1,"12308A","ZNF860","chr3:32031962","c.1391A>G(E2)","p.464,H>R","rs1808125",0.62,0.74,0.78,0.71,0.73,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12220,"1.00=153/153","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12308A(99)v9946",15,15,1,"12308A","ZNF862","chr7:149559273","c.3024C>T(E7)","p.1008,L>L","rs2074700",0.37,0.33,0.33,0.33,0.28,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,59,"同义",13203,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12308A(99)v9947",6,6,1,"12308A","ZNF862","chr7:149558409","c.2160G>C(E7)","p.720,L>L","rs2240361",0.38,0.33,0.33,0.33,0.24,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,59,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12308A(99)v9948",20,20,1,"12308A","ZNF862","chr7:149559465","c.3216C>T(E7)","p.1072,G>G","rs2074701",0.44,0.33,0.33,0.33,0.29,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,59,"同义",13203,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12308A(99)v9949",61,36,0.59,"12308A","ZNF862","chr7:149556518","c.1125C>T(E6)","p.375,A>A","rs4725833",0.53,0.37,0.34,0.4,0.33,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,59,"同义",13203,"0.62=71/114","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12308A(99)v2410",116,63,0.54,"12308A","ZNF878","chr19:12154799","c.1417G>C(E4)","p.473,H>D","rs67102109",0.07,0.043,0.057,0.029,0.053,0.047,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF878",1,190,"错义",12210,"0.49=99/200","位于基因组多拷贝区域+DNA结构正常",729747,"19p13.2","NM_001080404.2"]
["12308A(99)v12451",95,94,0.99,"12308A","ZNF879","chr5:178459283","c.334A>G(E5)","p.112,T>A","rs17078988",0.36,0.46,0.49,0.43,0.42,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF879",1,140,"错义",12220,"0.99=156/157","位于基因组单拷贝区域+DNA结构正常",345462,"5q35.3","NM_001136116.1"]
["12308A(99)v12452",98,97,0.99,"12308A","ZNF879","chr5:178459426","c.477A>C(E5)","p.159,E>D","rs17078991",0.36,0.46,0.49,0.43,0.43,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF879",1,140,"错义",12220,"0.99=149/150","位于基因组单拷贝区域+DNA结构正常",345462,"5q35.3","NM_001136116.1"]
["12308A(99)v11920",4,4,1,"12308A","ZNF883","chr9:115760610","m.1169T>A(E5)","非编码区","rs11971",0.44,0.4,0.39,0.42,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF883",1,160,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",169834,"9q32","NM_001101338.1"]
["12308A(99)v11921",6,6,1,"12308A","ZNF883","chr9:115760587","m.1192G>A(E5)","非编码区","rs7036363",0.28,0.4,0.39,0.42,null,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF883",1,160,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",169834,"9q32","NM_001101338.1"]
["12308A(99)v9894",31,31,1,"12308A","ZNF90","chr19:20230264","m.2040T>A(E4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF90",1,170,"非编码区",14200,"1.00=46/46","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138.1"]
["12308A(99)v9895",79,79,1,"12308A","ZNF90","chr19:20229486","c.1123G>A(E4)","p.375,G>S","rs1725935",0.23,0.5,0.45,0.56,0.55,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF90",1,170,"错义",12210,"1.00=127/127","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138.1"]
["12308A(99)v27271",7,3,0.43,"12308A","ZNF91","chr19:23541485","m.4409G>A(E4)","非编码区","rs3745111",0.023,0.017,0.0095,0.024,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF91",1,110,"非编码区",14100,"0.33=4/12","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430.2"]
["12308A(99)v28602",23,23,1,"12308A","ZNF92","chr7:64864894","m.1883C>T(E3)","非编码区","rs7796776",0.14,0.18,0.19,0.17,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF92",1,170,"非编码区",14200,"1.00=33/33","位于基因组多拷贝区域+DNA结构正常",168374,"7q11.21","NM_007139.2"]
["12308A(99)v15128",59,32,0.54,"12308A","ZNF93","chr19:20011811","m.90T>C(E1)","非编码区","rs7253941",0.24,0.18,0.18,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF93",1,180,"非编码区",14200,"0.57=56/99","位于基因组多拷贝区域+DNA结构正常",81931,"19p12","NM_031218.3"]
["12308A(99)v15129",5,1,0.2,"12308A","ZNF93","chr19:20045809","m.2221T>C(E4)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNF93",1,180,"非编码区",14400,"0.29=2/7","位于基因组多拷贝区域+DNA结构正常",81931,"19p12","NM_031218.3"]
["12308A(99)v23204",117,116,0.99,"12308A","ZNF98","chr19:22575488","c.549C>T(E4)","p.183,K>K","rs7247735",0.4,0.46,0.49,0.42,0.46,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"同义",13203,"0.99=177/178","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12308A(99)v23205",42,42,1,"12308A","ZNF98","chr19:22605103","m.46G>C(E1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"非编码区",14200,"1.00=62/62","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12308A(99)v23206",271,270,1,"12308A","ZNF98","chr19:22586192","c.153A>G(E2)","p.51,F>F","rs1368476",0.39,0.45,0.48,0.42,0.45,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"同义",13203,"0.99=456/459","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12308A(99)v23207",140,109,0.78,"12308A","ZNF98","chr19:22574818","c.1219T>C(E4)","p.407,K>E","rs201005223",0.34,0.44,0.47,0.41,0.36,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"错义",12210,"0.74=173/233","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12308A(99)v23208",30,30,1,"12308A","ZNF98","chr19:22605120","m.29G>T(E1)","非编码区","rs11669356",0.34,0.44,0.47,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"非编码区",14200,"1.00=37/37","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12308A(99)v2875",5,1,0.2,"12308A","ZNF99","chr19:22937508","m.5358G>A(E4)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF99",1,110,"非编码区",14400,"0.25=2/8","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409.2"]
["12308A(99)v15513",35,16,0.46,"12308A","ZNFX1","chr20:47865372","c.4189G>A(E14)","p.1397,L>L","rs238208",0.78,0.56,0.57,0.55,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNFX1",1,110,"同义",13203,"0.54=27/50","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035.2"]
["12308A(99)v15514",84,33,0.39,"12308A","ZNFX1","chr20:47886684","c.1665G>A(E3)","p.555,Y>Y","rs57950",0.78,0.56,0.57,0.55,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNFX1",1,110,"同义",13203,"0.39=50/127","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035.2"]
["12308A(99)v15515",116,52,0.45,"12308A","ZNFX1","chr20:47872377","c.2772C>G(E9)","p.924,Q>H","rs238221",0.57,0.43,0.43,0.43,0.45,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNFX1",1,110,"错义",12220,"0.45=104/231","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035.2"]
["12308A(99)v15516",51,21,0.41,"12308A","ZNFX1","chr20:47865509","c.4052G>A(E14)","p.1351,T>I","rs238209",0.6,0.47,0.47,0.48,0.5,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNFX1",1,110,"错义",12220,"0.46=37/80","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035.2"]
["12308A(99)v12655",13,1,0.08,"12308A","ZNHIT1","chr7:100867323","m.1041A>G(E5)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNHIT1",1,40,"非编码区",14400,"0.17=4/24","位于基因组单拷贝区域+DNA结构正常",10467,"7q22.1","NM_006349.2"]
["12308A(99)v12656",43,1,0.02,"12308A","ZNHIT1","chr7:100866969-100866969","c.289(E4):缺失G","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"ZNHIT1",1,40,"缺失移码",2140,"0.04=2/49","位于基因组多拷贝区域+DNA结构正常",10467,"7q22.1","NM_006349.2"]
["12308A(99)v692",15,15,1,"12308A","ZNHIT2","chr11:64884052","c.1074G>A(E1)","p.358,A>A","rs1546532",0.89,0.9,0.91,0.9,0.84,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT2",0.65,5.9,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",741,"11q13","NM_014205.2"]
["12308A(99)v15290",18,18,1,"12308A","ZNHIT3","chr17:34842521","m.49A>G(E1)","非编码区","rs4796224",0.51,0.46,0.49,0.44,null,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT3",1,150,"非编码区",14200,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",9326,"17q12","NM_004773.2"]
["12308A(99)v17116",2,2,1,"12308A","ZNRF4","chr19:5455978","c.476T>C(E1)","p.159,V>A","rs8107825",0.54,0.76,0.75,0.77,0.61,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12308A(99)v17117",2,2,1,"12308A","ZNRF4","chr19:5455971","c.469G>T(E1)","p.157,A>S","rs8103406",0.54,0.76,0.75,0.77,0.6,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12308A(99)v17118",44,21,0.48,"12308A","ZNRF4","chr19:5456450","c.948T>C(E1)","p.316,Y>Y","rs8111108",0.7,0.87,0.84,0.89,0.86,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"同义",13203,"0.51=34/67","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12308A(99)v17119",2,2,1,"12308A","ZNRF4","chr19:5455735","c.233G>A(E1)","p.78,R>Q","rs2240744",0.2,0.4,0.43,0.37,0.3,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12308A(99)v17120",3,3,1,"12308A","ZNRF4","chr19:5455796","c.294A>G(E1)","p.98,A>A","rs420325",0.73,0.87,0.85,0.88,0.68,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12308A(99)v17121",5,3,0.6,"12308A","ZNRF4","chr19:5455611","c.109C>T(E1)","p.37,P>S","rs2240743",0.53,0.76,0.76,0.76,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"错义",12220,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12308A(99)v28460",53,53,1,"12308A","ZP1","chr11:60638470","c.867A>G(E5)","p.289,V>V","rs566411",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,3,1,"ZP1",1,63,"同义",13203,"0.99=83/84","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12308A(99)v28461",8,8,1,"12308A","ZP1","chr11:60635091","c.57T>C(E1)","p.19,V>V","rs550479",0.96,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,3,1,"ZP1",1,63,"同义",13203,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12308A(99)v28462",53,53,1,"12308A","ZP1","chr11:60638461","c.858C>T(E5)","p.286,F>F","rs10897122",0.31,0.66,0.69,0.64,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,3,1,"ZP1",1,63,"同义",13203,"1.00=86/86","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12308A(99)v11867",163,74,0.45,"12308A","ZP2","chr16:21217061","c.519G>A(E6)","p.173,D>D","rs16971234",0.28,0.42,0.44,0.39,0.41,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZP2",1,170,"同义",13203,"0.45=125/280","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460.1"]
["12308A(99)v11868",108,107,0.99,"12308A","ZP2","chr16:21222672","c.107C>A(E2)","p.36,G>V","rs2075520",0.45,0.46,0.5,0.42,0.46,0.45,"纯合","无关","有rs号，MAF>=5%",17357082,{"$nulls":3},5,null,2,0,"ZP2",1,170,"错义",12220,"0.99=181/182","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460.1"]
["12308A(99)v21945",103,48,0.47,"12308A","ZP3","chr7:76069811","c.943T>C(E7)","p.315,S>P","rs2906999",0.59,0.57,0.54,0.61,0.59,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZP3",1,120,"错义",12220,"0.47=80/171","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_001110354.1"]
["12308A(99)v15794",66,66,1,"12308A","ZPBP","chr7:50023122","IVS6-7C>T","剪切位点","rs988392",0.78,0.88,0.88,0.89,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZPBP",0.91,290,"剪切位点",16202,"1.00=106/106","位于基因组单拷贝区域+DNA结构正常",11055,"7p14.3","NM_001159878.1"]
["12308A(99)v21827",107,39,0.36,"12308A","ZRANB2","chr1:71537943","IVS5-5A>G","剪切位点","rs11209745",0.36,0.75,0.72,0.79,null,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZRANB2",1,290,"剪切位点",16202,"0.34=53/154","位于基因组单拷贝区域+DNA结构正常",9406,"1p31","NM_005455.4"]
["12308A(99)v4349",80,37,0.46,"12308A","ZRANB3","chr2:135988235","c.1802C>T(E13)","p.601,R>Q","rs76333606",0.077,0.079,0.081,0.078,0.088,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"错义",12220,"0.41=54/133","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12308A(99)v4350",70,30,0.43,"12308A","ZRANB3","chr2:135988186","c.1851G>A(E13)","p.617,T>T","rs58917764",0.19,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"同义",13203,"0.41=44/108","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12308A(99)v4351",43,16,0.37,"12308A","ZRANB3","chr2:135988416","c.1621C>T(E13)","p.541,E>K","rs935615",0.27,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"错义",12220,"0.40=33/82","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12308A(99)v4352",72,33,0.46,"12308A","ZRANB3","chr2:135988127","c.1910T>A(E13)","p.637,E>V","rs59900519",0.28,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"错义",12220,"0.44=52/117","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12308A(99)v4353",61,31,0.51,"12308A","ZRANB3","chr2:135965376","c.2637T>C(E19)","p.879,P>P","rs7578111",0.27,0.19,0.22,0.17,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"同义",13203,"0.50=44/88","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12308A(99)v12800",103,103,1,"12308A","ZRSR2","chrX:15838366","c.864C>T(E10)","p.288,N>N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,120,"同义",13303,"0.99=197/198","位于基因组单拷贝区域+DNA结构正常",8233,"Xp22.1","NM_005089.3"]
["12308A(99)v21832",10,5,0.5,"12308A","ZSCAN1","chr19:58565431","m.1486C>T(E6)","非编码区","rs8104122",0.26,0.29,0.27,0.32,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN1",1,21,"非编码区",14200,"0.50=7/14","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572.3"]
["12308A(99)v1385",76,75,0.99,"12308A","ZSCAN12","chr6:28359170","c.897A>G(E4)","p.299,D>D","rs2859348",0.64,0.58,0.58,0.59,0.62,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZSCAN12",1,140,"同义",13203,"0.99=120/121","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12308A(99)v1386",87,39,0.45,"12308A","ZSCAN12","chr6:28359186","c.881C>T(E4)","p.294,R>K","rs2232430",0.11,0.26,0.32,0.19,0.27,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZSCAN12",1,140,"错义",12220,"0.37=49/132","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12308A(99)v1387",1,1,1,"12308A","ZSCAN12","chr6:28357966","m.2280A>T(E4)","非编码区","rs9468365",0.39,0.25,0.2,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZSCAN12",1,140,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12308A(99)v1388",137,63,0.46,"12308A","ZSCAN12","chr6:28358320","c.1747A>G(E4)","p.583,C>R","rs1361385",0.39,0.25,0.2,0.3,0.24,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZSCAN12",1,140,"错义",12210,"0.42=98/235","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12308A(99)v1389",132,57,0.43,"12308A","ZSCAN12","chr6:28358335","c.1732G>C(E4)","p.578,R>G","rs1416918",0.39,0.25,0.2,0.3,0.24,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZSCAN12",1,140,"错义",12220,"0.39=88/223","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12308A(99)v1390",36,17,0.47,"12308A","ZSCAN12","chr6:28358893","c.1174T>C(E4)","p.392,N>D","rs2232434",0.1,0.12,0.1,0.13,0.097,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZSCAN12",1,140,"错义",12220,"0.52=24/46","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12308A(99)v1391",20,8,0.4,"12308A","ZSCAN12","chr6:28358116-28358117","m.2130(E4)至m.2129(E4):插入A","非编码区","rs150686870",0.1,0.12,0.1,0.13,0.024,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,7,0,"ZSCAN12",1,140,"非编码区",2420,"0.36=8/22","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12308A(99)v6372",69,69,1,"12308A","ZSCAN2","chr15:85163998","c.572G>C(E3)","p.191,S>T","rs2044502",0.88,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,89,"错义",12220,"0.99=98/99","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_181877.3"]
["12308A(99)v6373",118,116,0.98,"12308A","ZSCAN2","chr15:85149771","c.418G>T(E3)","p.140,V>F","rs2271433",0.91,0.95,0.93,0.97,0.95,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,89,"错义",12220,"0.99=201/204","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_017894.5"]
["12308A(99)v3598",42,23,0.55,"12308A","ZSCAN20","chr1:33957130","c.1272C>A(E6)","p.424,A>A","rs3795419",0.19,0.38,0.37,0.39,0.41,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,100,"同义",13203,"0.51=34/67","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12308A(99)v3599",48,47,0.98,"12308A","ZSCAN20","chr1:33957152","c.1294T>G(E6)","p.432,Y>D","rs4403594",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,100,"错义",12230,"0.97=77/79","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12308A(99)v3600",12,12,1,"12308A","ZSCAN20","chr1:33961147","m.3370T>G(E8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,100,"非编码区",14200,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12308A(99)v3601",128,127,0.99,"12308A","ZSCAN20","chr1:33960062","c.2118A>G(E8)","p.706,A>A","rs9943259",0.75,0.75,0.76,0.75,0.79,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,100,"同义",13203,"0.99=209/211","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12308A(99)v31510",25,1,0.04,"12308A","ZSCAN22","chr19:58850121","c.905G>T(E3)","p.302,G>V",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ZSCAN22",1,42,"错义",12410,"0.11=4/37","位于基因组多拷贝区域+DNA结构正常",342945,"19q13.43","NM_181846.2"]
["12308A(99)v11203",37,23,0.62,"12308A","ZSCAN23","chr6:28403629","IVS2+7T>C","非编码区","rs57126418",0.11,0.12,0.1,0.14,null,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN23",1,85,"非编码区",16203,"0.67=39/58","位于基因组单拷贝区域+DNA结构正常",222696,"6p22.1","NM_001012455.1"]
["12308A(99)v11204",77,37,0.48,"12308A","ZSCAN23","chr6:28402260","c.1152T>C(E4)","p.384,P>P","rs17315648",0.11,0.12,0.1,0.14,0.11,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN23",1,85,"同义",13203,"0.47=59/125","位于基因组单拷贝区域+DNA结构正常",222696,"6p22.1","NM_001012455.1"]
["12308A(99)v5279",93,44,0.47,"12308A","ZSCAN29","chr15:43661802","c.310T>C(E1)","p.104,R>G","rs3809482",0.55,0.5,0.48,0.53,0.45,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN29",1,100,"错义",12220,"0.46=78/169","位于基因组单拷贝区域+DNA结构正常",146050,"15q15.3","NM_152455.3"]
["12308A(99)v5280",9,1,0.11,"12308A","ZSCAN29","chr15:43662179","m.80G>T(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZSCAN29",1,100,"非编码区",14400,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",146050,"15q15.3","NM_152455.3"]
["12308A(99)v20103",4,3,0.75,"12308A","ZSCAN5A","chr19:56736551-56736552","IVS1-9至IVS1-10:插入A","非编码区","rs79216979",0.3,0.51,0.54,0.48,0.031,null,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"ZSCAN5A",1,95,"非编码区",2500,"0.75=3/4","位于基因组多拷贝区域+DNA结构正常",79149,"19q13.43","NM_024303.1"]
["12308A(99)v2298",67,33,0.49,"12308A","ZSCAN5B","chr19:56704260","c.162C>T(E1)","p.54,E>E","rs61742908",0.084,0.28,0.28,0.28,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"同义",13203,"0.53=60/114","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12308A(99)v2299",42,20,0.48,"12308A","ZSCAN5B","chr19:56704101","c.321G>A(E1)","p.107,N>N","rs11084427",0.21,0.29,0.26,0.32,0.26,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"同义",13203,"0.48=28/58","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12308A(99)v2300",87,45,0.52,"12308A","ZSCAN5B","chr19:56702323","c.622C>T(E3)","p.208,V>I","rs4801296",0.48,0.41,0.45,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"错义",12220,"0.51=75/148","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12308A(99)v2301",30,15,0.5,"12308A","ZSCAN5B","chr19:56704399","c.23G>A(E1)","p.8,S>L","rs61745809",0.083,0.27,0.28,0.26,0.25,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"错义",12210,"0.58=25/43","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12308A(99)v2302",13,6,0.46,"12308A","ZSCAN5B","chr19:56703248","c.559G>A(E2)","p.187,P>S","rs527025",0.25,0.29,0.26,0.32,0.27,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"错义",12210,"0.37=7/19","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12308A(99)v14317",100,100,1,"12308A","ZSWIM2","chr2:187698751","c.750G>A(E6)","p.250,T>T","rs7559533",0.2,0.099,0.09,0.11,0.12,0.12,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM2",1,200,"同义",13203,"1.00=174/174","位于基因组单拷贝区域+DNA结构正常",151112,"2q32.1","NM_182521.2"]
["12308A(99)v3556",81,35,0.43,"12308A","ZSWIM3","chr20:44505830","c.633C>T(E2)","p.211,T>T","rs61733888",0.088,0.089,0.086,0.092,0.04,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"同义",13203,"0.45=60/134","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12308A(99)v3557",27,16,0.59,"12308A","ZSWIM3","chr20:44506418","c.1221G>A(E2)","p.407,R>R","rs1045493",0.48,0.46,0.46,0.47,0.47,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"同义",13203,"0.63=22/35","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12308A(99)v3558",25,11,0.44,"12308A","ZSWIM3","chr20:44507307","m.2355T>C(E2)","非编码区","rs17446511",0.088,0.089,0.086,0.092,null,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"非编码区",14200,"0.39=16/41","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12308A(99)v3559",25,13,0.52,"12308A","ZSWIM3","chr20:44506661","c.1464G>A(E2)","p.488,P>P","rs17446462",0.088,0.089,0.086,0.092,0.041,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"同义",13203,"0.58=21/36","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12308A(99)v3560",32,32,1,"12308A","ZSWIM3","chr20:44505973","c.776T>C(E2)","p.259,V>A","rs2903808",0.56,0.55,0.55,0.56,0.51,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"错义",12220,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12308A(99)v6965",92,38,0.41,"12308A","ZSWIM5","chr1:45504720","c.1782G>C(E8)","p.594,T>T","rs7551698",0.51,0.51,0.46,0.55,0.47,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSWIM5",0.92,84,"同义",13203,"0.37=63/170","位于基因组单拷贝区域+DNA结构正常",57643,"1p34.1","NM_020883.1"]
["12308A(99)v6966",52,1,0.02,"12308A","ZSWIM5","chr1:45499997-45499999","c.2436(E11)至c.2434(E11):缺失CAG","缺失非移码",{"$nulls":7},"杂合","未知","未知",{"$nulls":4},3,null,2,0,"ZSWIM5",0.92,84,"缺失非移码",2243,"0.03=2/59","位于基因组多拷贝区域+DNA结构正常",57643,"1p34.1","NM_020883.1"]
["12308A(99)v21537",64,64,1,"12308A","ZSWIM6","chr5:60839907","c.3411C>A(E14)","p.1137,P>P","rs16892374",0.075,0.13,0.14,0.13,0.14,0.13,"纯合","无关","有rs号，MAF>=5%",null,"肢端额鼻骨发育不良","AD",603671,5,1,1,1,"ZSWIM6",0.81,130,"同义",13203,"1.00=99/99","位于基因组单拷贝区域+DNA结构正常",57688,"5q12.1","NM_020928.1"]
["12308A(99)v11881",161,75,0.47,"12308A","ZUFSP","chr6:116973182","c.1135T>C(E6)","p.379,N>D","rs4946188",0.41,0.26,0.24,0.29,0.29,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZUFSP",1,250,"错义",12220,"0.46=127/279","位于基因组单拷贝区域+DNA结构正常",221302,"6q22.1","NM_145062.2"]
["12308A(99)v28539",144,70,0.49,"12308A","ZW10","chr11:113609079","c.1791T>C(E13)","p.597,K>K","rs77970040",1.8E-3,0.017,0.0048,0.029,0.0034,0.0088,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZW10",1,200,"同义",13103,"0.50=123/247","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724.3"]
["12308A(99)v28423",129,65,0.5,"12308A","ZWILCH","chr15:66832466","c.1605A>G(E17)","p.535,I>M","rs75532475",0.079,0.024,0.029,0.019,0.039,0.047,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZWILCH",1,280,"错义",12220,"0.51=125/243","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975.3"]
["12308A(99)v25504",24,1,0.04,"12308A","ZWINT","chr10:58119605","c.266G>A(E4)","p.89,A>V",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ZWINT",1,80,"错义",12410,"0.12=4/33","位于基因组单拷贝区域+DNA结构正常",11130,"10q21-q22","NM_001005413.1"]
["12308A(99)v25505",65,27,0.42,"12308A","ZWINT","chr10:58118630","c.559T>C(E6)","p.187,R>G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,2,0,"ZWINT",1,80,"错义",12210,"0.45=56/124","位于基因组单拷贝区域+DNA结构正常",11130,"10q21-q22","NM_007057.3"]
["12308A(99)v15526",41,41,1,"12308A","ZXDB","chrX:57619648","c.1167G>T(E1)","p.389,P>P","rs1057328",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZXDB",0.67,46,"同义",13303,"0.99=68/69","位于基因组多拷贝区域+DNA结构正常",158586,"Xp11.21","NM_007157.3"]
["12308A(99)v25526",13,1,0.08,"12308A","ZXDC","chr3:126160684","c.2318C>T(E8)","p.773,S>N",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZXDC",0.83,51,"错义",12420,"0.15=3/20","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_025112.4"]
["12308A(99)v25527",20,20,1,"12308A","ZXDC","chr3:126181071","IVS5-8A>C","剪切位点","rs6775965",0.22,0.34,0.34,0.33,null,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZXDC",0.83,51,"剪切位点",16202,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_001040653.2"]
["12308A(99)v12399",98,53,0.54,"12308A","ZYG11A","chr1:53333392","IVS7-7C>T","剪切位点","rs79762797",0.052,0.2,0.19,0.21,0.21,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZYG11A",1,160,"剪切位点",16202,"0.56=97/173","位于基因组单拷贝区域+DNA结构正常",440590,"1p32.3","NM_001004339.2"]
["12308A(99)v12400",84,41,0.49,"12308A","ZYG11A","chr1:53320274","c.228G>T(E2)","p.76,E>D","rs480299",0.59,0.25,0.23,0.28,0.28,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZYG11A",1,160,"错义",12220,"0.49=71/144","位于基因组单拷贝区域+DNA结构正常",440590,"1p32.3","NM_001004339.2"]
["12308A(99)v29904",65,65,1,"12308A","ZYG11B","chr1:53250650","c.1194G>A(E5)","p.398,G>G","rs6588443",0.71,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZYG11B",0.99,160,"同义",13203,"1.00=110/110","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646.2"]
["12308A(99)v29905",2,2,1,"12308A","ZYG11B","chr1:53192187","m.57C>T(E1)","非编码区","rs269298",0.85,0.62,0.59,0.66,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZYG11B",0.99,160,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646.2"]
["12308A(99)v29906",2,2,1,"12308A","ZYG11B","chr1:53192177","m.47C>T(E1)","非编码区","rs57287578",0.035,0.17,0.17,0.17,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZYG11B",0.99,160,"非编码区",14100,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646.2"]
["12308A(99)v24521",81,29,0.36,"12308A","ZZEF1","chr17:3953083","c.5934T>C(E37)","p.1978,P>P","rs781853",0.46,0.22,0.18,0.25,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"同义",13203,"0.34=49/145","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12308A(99)v24522",170,85,0.5,"12308A","ZZEF1","chr17:3947644","c.6040T>C(E38)","p.2014,I>V","rs781831",0.52,0.33,0.32,0.33,0.34,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"错义",12220,"0.50=153/305","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12308A(99)v24523",78,27,0.35,"12308A","ZZEF1","chr17:3953102","c.5915A>G(E37)","p.1972,L>P","rs781852",0.48,0.22,0.19,0.25,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",17134496,{"$nulls":3},5,null,8,0,"ZZEF1",0.96,130,"错义",12220,"0.32=45/141","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12308A(99)v24524",33,17,0.52,"12308A","ZZEF1","chr17:3910125","m.9009A>G(E55)","非编码区","rs62072392",0.14,0.082,0.071,0.092,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"非编码区",14200,"0.51=31/61","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12308A(99)v24525",203,93,0.46,"12308A","ZZEF1","chr17:3999199","c.1839C>T(E11)","p.613,A>A","rs12947597",0.15,0.15,0.12,0.18,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"同义",13203,"0.45=164/365","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12308A(99)v24526",50,18,0.36,"12308A","ZZEF1","chr17:4015997","c.972A>G(E5)","p.324,N>N","rs58625333",0.27,0.22,0.18,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"同义",13203,"0.34=26/76","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12308A(99)v24527",30,11,0.37,"12308A","ZZEF1","chr17:3979949","c.3216G>A(E21)","p.1072,P>P","rs7207986",0.17,0.15,0.12,0.18,0.15,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"同义",13203,"0.32=17/53","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12308A(99)v24528",101,54,0.53,"12308A","ZZEF1","chr17:3966064","c.4866A>G(E30)","p.1622,C>C","rs781825",0.47,0.22,0.19,0.25,0.26,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"同义",13203,"0.53=87/164","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]

{"sheet":"Result","index":1,"n_rows":31478,"n_cols":43,"rows_kept":2250,"cut":true,"bounds":{"rows_first":1000,"rows_last":250,"rows_between":1000,"halvings":1}}
["突变编号","总深度A(12308n1A_99)","突变深度A(12308n1A_99)","突变率A(12308n1A_99)","总深度B(NA_NA)","突变深度B(NA_NA)","突变率B(NA_NA)","AB比较情况","样品编号","基因","染色体位置","核酸改变","氨基酸改变","rs编号","次要基因型频率","千人基因组(中国)","千人基因组(中国南方)","千人基因组(中国北方)","德易东方MAF频率","ExAC数据库频率","杂合/纯合","与疾病相关性","相关性说明","PubMed文献号","疾病表型名称","遗传方式","基因所关联疾病表型","突变级别","遗传学意义评级","该基因致病突变数","基因关联疾病数","基因","覆盖度","平均深度","突变类型","生物学意义编号","原深度A(12308n1A_99)","原深度B(NA_NA)","基因ID","基因Location","mRNA变体名称(NM)","突变区域","疑似阳性/非阳性"]
["12308A(99)v6634",8,8,1,{"$nulls":3},"A有","12308A","A1BG","chr19:58858232-58858232","m.1706(E8):缺失C","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"A1BG",0.92,7.4,"非编码区",2420,"1.00=8/8",null,1,"19q13.4","NM_130786.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6632",9,9,1,{"$nulls":3},"A有","12308A","A1BG","chr19:58864479","c.155T>C(E3)","p.52,H>R","rs893184",0.85,0.92,0.94,0.89,0.82,0.91,"纯合","无关","有rs号，MAF>=5%",23690342,{"$nulls":3},5,null,2,0,"A1BG",0.92,7.4,"错义",12220,"1.00=14/14",null,1,"19q13.4","NM_130786.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16249",92,91,0.99,{"$nulls":3},"A有","12308A","A2M","chr12:9248233","c.1915T>C(E16)","p.639,N>D","rs226405",null,1,1,1,0.97,1,"纯合","未知","未知",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,1,2,"A2M",1,210,"错义",12330,"0.99=169/170",null,2,"12p13.31","NM_000014.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16249",92,91,0.99,{"$nulls":3},"A有","12308A","A2M","chr12:9248233","c.1915T>C(E16)","p.639,N>D","rs226405",null,1,1,1,0.97,1,"纯合","未知","未知",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,1,2,"A2M",1,210,"错义",12330,"0.99=169/170",null,2,"12p13.31","NM_000014.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24304",117,58,0.5,{"$nulls":3},"A有","12308A","A2ML1","chr12:8975901","c.186C>T(E2)","p.62,T>T","rs17792974",null,0.21,0.23,0.19,0.2,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"A2ML1",1,160,"同义",13303,"0.47=94/198",null,144568,"12p13.31","NM_144670.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24300",94,94,1,{"$nulls":3},"A有","12308A","A2ML1","chr12:9004512","c.2367G>A(E19)","p.789,P>P","rs1860927",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"A2ML1",1,160,"同义",13303,"0.98=179/182",null,144568,"12p13.31","NM_144670.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24303",86,86,1,{"$nulls":3},"A有","12308A","A2ML1","chr12:9004892","c.2550C>A(E20)","p.850,D>E","rs1860926",null,1,1,1,0.99,1,"纯合","未知","未知",{"$nulls":4},3,null,7,0,"A2ML1",1,160,"错义",12330,"1.00=147/147",null,144568,"12p13.31","NM_144670.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24306",149,149,1,{"$nulls":3},"A有","12308A","A2ML1","chr12:9013755","c.3364C>T(E28)","p.1122,R>W","rs1860967",null,0.83,0.83,0.83,0.77,0.78,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"A2ML1",1,160,"错义",12320,"1.00=250/250",null,144568,"12p13.31","NM_144670.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24302",50,50,1,{"$nulls":3},"A有","12308A","A2ML1","chr12:9016573","c.3686A>G(E29)","p.1229,H>R","rs10219561",null,1,1,1,0.96,1,"纯合","未知","未知",{"$nulls":4},3,null,7,0,"A2ML1",1,160,"错义",12330,"1.00=77/77",null,144568,"12p13.31","NM_144670.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24301",61,61,1,{"$nulls":3},"A有","12308A","A2ML1","chr12:9020489","c.3769A>G(E30)","p.1257,M>V","rs7308811",null,1,1,1,0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"A2ML1",1,160,"错义",12320,"1.00=104/104",null,144568,"12p13.31","NM_144670.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24305",103,52,0.5,{"$nulls":3},"A有","12308A","A2ML1","chr12:9020912","c.4020A>G(E31)","p.1340,Q>Q","rs1476910",null,0.48,0.48,0.48,0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"A2ML1",1,160,"同义",13303,"0.53=90/169",null,144568,"12p13.31","NM_144670.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16553",16,8,0.5,{"$nulls":3},"A有","12308A","A4GALT","chr22:43089055","c.903G>C(E3)","p.301,P>P","rs6002904",0.7,0.68,0.69,0.67,0.65,0.72,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,2,1,"A4GALT",1,17,"同义",13203,"0.60=18/30",null,53947,"22q13.2","NM_017436.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16552",7,3,0.43,{"$nulls":3},"A有","12308A","A4GALT","chr22:43089849","c.109T>C(E3)","p.37,M>V","rs11541159",0.35,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,2,1,"A4GALT",1,17,"错义",12220,"0.44=4/9",null,53947,"22q13.2","NM_017436.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29",3,3,1,{"$nulls":3},"A有","12308A","A4GNT","chr3:137843018","m.1313G>C(E3)","非编码区","rs1564496",null,0.69,0.68,0.71,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A4GNT",1,110,"非编码区",14300,"1.00=4/4",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v32",25,25,1,{"$nulls":3},"A有","12308A","A4GNT","chr3:137843106","c.1023T>C(E3)","p.341,X>X","rs2170309",0.65,0.69,0.68,0.71,0.67,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"1.00=48/48",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30",80,80,1,{"$nulls":3},"A有","12308A","A4GNT","chr3:137843476","c.653G>T(E3)","p.218,A>D","rs2246945",0.65,0.69,0.68,0.71,0.68,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"错义",12220,"1.00=129/129",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31",54,31,0.57,{"$nulls":3},"A有","12308A","A4GNT","chr3:137850003","c.96A>G(E2)","p.32,C>C","rs2724691",0.61,0.6,0.6,0.6,0.54,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"0.55=42/76",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18081",35,35,1,{"$nulls":3},"A有","12308A","AAAS","chr12:53703021","c.756G>A(E8)","p.252,F>F","rs1546808",0.92,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,1,1,"AAAS",1,85,"同义",13203,"1.00=51/51",null,8086,"12q13","NM_001173466.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6",6,6,1,{"$nulls":3},"A有","12308A","AACS","chr12:125621419","IVS17+9A>G","非编码区","rs41473449",0.37,0.55,0.57,0.53,null,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AACS",1,100,"非编码区",16203,"1.00=8/8",null,65985,"12q24.31","NM_023928.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6364",11,3,0.27,{"$nulls":3},"A有","12308A","AADACL3","chr1:12776134","m.17C>A(E1)","非编码区","rs3010874",0.71,0.66,0.69,0.63,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AADACL3",1,130,"非编码区",14200,"0.27=3/11",null,126767,"1p36.21","NM_001103169.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6362",28,9,0.32,{"$nulls":3},"A有","12308A","AADACL3","chr1:12776218","m.101A>C(E1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AADACL3",1,130,"非编码区",14200,"0.35=13/37",null,126767,"1p36.21","NM_001103169.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6361",76,31,0.41,{"$nulls":3},"A有","12308A","AADACL3","chr1:12776344","c.1A>T(E1)","p.1,M>L","rs3000859",0.66,0.66,0.69,0.63,0.63,0.64,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,4,0,"AADACL3",1,130,"错义",18220,"0.40=49/124",null,126767,"1p36.21","NM_001103169.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6363",105,52,0.5,{"$nulls":3},"A有","12308A","AADACL3","chr1:12785494","c.374G>T(E3)","p.125,C>F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AADACL3",1,130,"错义",12210,"0.49=78/159",null,126767,"1p36.21","NM_001103169.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29467",150,149,0.99,{"$nulls":3},"A有","12308A","AADAT","chr4:170987636","IVS9-7A>G","剪切位点","rs1480544",0.74,1,1,1,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AADAT",1,270,"剪切位点",16202,"0.99=260/262",null,51166,"4q33","NM_016228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29469",230,63,0.27,{"$nulls":3},"A有","12308A","AADAT","chr4:170991812-170991815","IVS5-9至IVS5-12:缺失GGTT","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"AADAT",1,270,"非编码区",2500,"0.28=77/274",null,51166,"4q33","NM_016228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30703",5,5,1,{"$nulls":3},"A有","12308A","AAGAB","chr15:67494823","m.1389G>C(E10)","非编码区","rs10518716",0.26,0.47,0.4,0.53,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,280,"非编码区",14200,"1.00=5/5",null,79719,"15q22.33-q23","NM_024666.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30702",8,8,1,{"$nulls":3},"A有","12308A","AAGAB","chr15:67494922","m.1290T>C(E10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,280,"非编码区",14200,"1.00=8/8",null,79719,"15q22.33-q23","NM_024666.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30701",185,185,1,{"$nulls":3},"A有","12308A","AAGAB","chr15:67528374","c.394T>G(E4)","p.132,I>L","rs7173826",0.36,0.63,0.63,0.64,0.62,0.66,"纯合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,280,"错义",12220,"1.00=342/343",null,79719,"15q22.33-q23","NM_024666.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19737",76,39,0.51,{"$nulls":3},"A有","12308A","AAK1","chr2:69692523","m.13869T>C(E22)","非编码区","rs77961083",0.084,0.21,0.2,0.23,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AAK1",1,170,"非编码区",14200,"0.48=56/117",null,22848,"2p14","NM_014911.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19740",55,55,1,{"$nulls":3},"A有","12308A","AAK1","chr2:69741854","c.1525T>G(E13)","p.509,K>Q","rs6715776",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AAK1",1,170,"错义",12230,"1.00=94/94",null,22848,"2p14","NM_014911.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19739",9,6,0.67,{"$nulls":3},"A有","12308A","AAK1","chr2:69746142","c.1441C>G(E12)","p.481,A>P","rs76509206",0.042,0.0024,0.0048,0,0.016,0.0062,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"AAK1",1,170,"错义",12120,"0.80=12/15",null,22848,"2p14","NM_014911.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30095",14,14,1,{"$nulls":3},"A有","12308A","AAMP","chr2:219129060","m.1585A>G(E11)","非编码区","rs2382816",0.96,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AAMP",1,64,"非编码区",14200,"1.00=16/16",null,14,"2q35","NM_001087.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8432",94,49,0.52,{"$nulls":3},"A有","12308A","AARD","chr8:117954810","c.338T>C(E2)","p.113,F>S","rs114091176",0.013,0.07,0.062,0.078,0.078,0.075,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AARD",1,54,"错义",12110,"0.54=96/178",null,441376,"8q24.11","NM_001025357.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23854",34,34,1,{"$nulls":3},"A有","12308A","AARS","chr16:70287177","c.2715A>G(E20)","p.905,V>V","rs4081753",0.88,0.96,0.97,0.95,0.94,0.97,"纯合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,130,"同义",13203,"0.98=61/62",null,16,"16q22","NM_001605.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23853",30,18,0.6,{"$nulls":3},"A有","12308A","AARS","chr16:70303580","c.903G>A(E7)","p.301,H>H","rs2070203",0.43,0.37,0.4,0.33,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,130,"同义",13203,"0.69=41/59",null,16,"16q22","NM_001605.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14072",2,2,1,{"$nulls":3},"A有","12308A","AARS2","chr6:44268135","m.3110C>T(E22)","非编码区","rs325009",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,3,2,"AARS2",1,51,"非编码区",14200,"1.00=2/2",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14072",2,2,1,{"$nulls":3},"A有","12308A","AARS2","chr6:44268135","m.3110C>T(E22)","非编码区","rs325009",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,3,2,"AARS2",1,51,"非编码区",14200,"1.00=2/2",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14074",11,11,1,{"$nulls":3},"A有","12308A","AARS2","chr6:44268371","c.2871T>C(E22)","p.957,S>S","rs325008",null,1,1,1,0.92,1,"纯合","未知","预测范围之外的同义突变",null,"联合氧化磷酸化缺陷8型","AR",614096,4,1,3,2,"AARS2",1,51,"同义",13303,"1.00=14/14",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14074",11,11,1,{"$nulls":3},"A有","12308A","AARS2","chr6:44268371","c.2871T>C(E22)","p.957,S>S","rs325008",null,1,1,1,0.92,1,"纯合","未知","预测范围之外的同义突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,4,1,3,2,"AARS2",1,51,"同义",13303,"1.00=14/14",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14073",14,14,1,{"$nulls":3},"A有","12308A","AARS2","chr6:44275011","c.1015T>C(E6)","p.339,I>V","rs324136",0.89,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,3,2,"AARS2",1,51,"错义",12230,"1.00=21/21",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14073",14,14,1,{"$nulls":3},"A有","12308A","AARS2","chr6:44275011","c.1015T>C(E6)","p.339,I>V","rs324136",0.89,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,3,2,"AARS2",1,51,"错义",12230,"1.00=21/21",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6255",50,50,1,{"$nulls":3},"A有","12308A","AARSD1","chr17:41116234","c.60G>A(E2)","p.20,S>S","rs690941",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AARSD1",1,140,"同义",13203,"1.00=70/70",null,80755,"17q21.31","NM_001261434.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12258",76,76,1,{"$nulls":3},"A有","12308A","AASDH","chr4:57221348","c.1103T>C(E6)","p.368,K>R","rs3796543",0.065,0.18,0.21,0.16,0.2,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AASDH",1,190,"错义",12220,"1.00=110/110",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12257",145,144,0.99,{"$nulls":3},"A有","12308A","AASDH","chr4:57248716","c.278G>C(E3)","p.93,P>R","rs34228795",0.065,0.18,0.21,0.16,0.21,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AASDH",1,190,"错义",12210,"1.00=263/264",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12256",131,131,1,{"$nulls":3},"A有","12308A","AASDH","chr4:57250285","c.181T>C(E2)","p.61,I>V","rs34543011",0.065,0.18,0.21,0.16,0.21,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AASDH",1,190,"错义",12220,"1.00=230/230",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21586",56,30,0.54,{"$nulls":3},"A有","12308A","AATF","chr17:35346641","c.1245T>C(E7)","p.415,S>S","rs1045056",0.16,0.017,0.0048,0.029,0.026,0.039,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AATF",1,220,"同义",13203,"0.55=42/76",null,26574,"17q12","NM_012138.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24121",2,2,1,{"$nulls":3},"A有","12308A","AATK","chr17:79095144","c.2592G>A(E11)","p.864,A>A","rs8073904",0.81,0.86,0.87,0.85,0.71,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AATK",0.74,4.1,"同义",13203,"1.00=3/3",null,9625,"17q25.3","NM_001080395.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30437",79,39,0.49,{"$nulls":3},"A有","12308A","ABAT","chr16:8839954","c.167A>G(E3)","p.56,Q>R","rs1731017",0.5,0.6,0.57,0.63,0.58,0.59,"杂合","无关","有rs号，MAF>=5%",15830322,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,130,"错义",12220,"0.50=67/133",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30436",152,71,0.47,{"$nulls":3},"A有","12308A","ABAT","chr16:8841960","IVS3-5T>C","剪切位点","rs1641010",0.47,0.59,0.57,0.62,0.57,0.59,"杂合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,130,"剪切位点",16202,"0.45=129/286",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30435",34,13,0.38,{"$nulls":3},"A有","12308A","ABAT","chr16:8868776","c.984C>A(E13)","p.328,V>V","rs1641022",0.32,0.44,0.42,0.47,0.41,0.4,"杂合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,130,"同义",13203,"0.40=19/48",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30434",44,18,0.41,{"$nulls":3},"A有","12308A","ABAT","chr16:8873456","IVS15+9T>C","非编码区","rs1079348",0.35,0.33,0.35,0.32,0.34,0.36,"杂合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,130,"非编码区",16203,"0.34=27/79",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28167",161,82,0.51,{"$nulls":3},"A有","12308A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"错义",12220,"0.49=135/278",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28167",161,82,0.51,{"$nulls":3},"A有","12308A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","丹吉尔病","AR",205400,5,3,7,3,"ABCA1",1,160,"错义",12220,"0.49=135/278",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28167",161,82,0.51,{"$nulls":3},"A有","12308A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","原发性α低脂蛋白血症",null,604091,5,2,7,3,"ABCA1",1,160,"错义",12220,"0.49=135/278",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28171",28,12,0.43,{"$nulls":3},"A有","12308A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"同义",13203,"0.46=21/46",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28171",28,12,0.43,{"$nulls":3},"A有","12308A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,3,7,3,"ABCA1",1,160,"同义",13203,"0.46=21/46",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28171",28,12,0.43,{"$nulls":3},"A有","12308A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"原发性α低脂蛋白血症",null,604091,5,2,7,3,"ABCA1",1,160,"同义",13203,"0.46=21/46",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28169",81,81,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107586753","c.2649T>C(E18)","p.883,I>M","rs2066714",0.36,0.74,0.74,0.74,0.68,0.72,"纯合","无关","有rs号，MAF>=5%","17430597;17855807;19041386;19406964;19606474;22668585;23111454;23262498;24942079","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"错义",12220,"1.00=129/129",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28169",81,81,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107586753","c.2649T>C(E18)","p.883,I>M","rs2066714",0.36,0.74,0.74,0.74,0.68,0.72,"纯合","无关","有rs号，MAF>=5%","17430597;17855807;19041386;19406964;19606474;22668585;23111454;23262498;24942079","丹吉尔病","AR",205400,5,1,7,3,"ABCA1",1,160,"错义",12220,"1.00=129/129",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28169",81,81,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107586753","c.2649T>C(E18)","p.883,I>M","rs2066714",0.36,0.74,0.74,0.74,0.68,0.72,"纯合","无关","有rs号，MAF>=5%","17430597;17855807;19041386;19406964;19606474;22668585;23111454;23262498;24942079","原发性α低脂蛋白血症",null,604091,5,1,7,3,"ABCA1",1,160,"错义",12220,"1.00=129/129",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28166",121,60,0.5,{"$nulls":3},"A有","12308A","ABCA1","chr9:107588033","c.2473C>T(E17)","p.825,V>I","rs2066715",0.11,0.42,0.43,0.41,0.36,0.42,"杂合","无关","有rs号，MAF>=5%","17430597;19041386;19606474;21247457;23355348","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"错义",12220,"0.49=102/209",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28166",121,60,0.5,{"$nulls":3},"A有","12308A","ABCA1","chr9:107588033","c.2473C>T(E17)","p.825,V>I","rs2066715",0.11,0.42,0.43,0.41,0.36,0.42,"杂合","无关","有rs号，MAF>=5%","17430597;19041386;19606474;21247457;23355348","丹吉尔病","AR",205400,5,3,7,3,"ABCA1",1,160,"错义",12220,"0.49=102/209",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28166",121,60,0.5,{"$nulls":3},"A有","12308A","ABCA1","chr9:107588033","c.2473C>T(E17)","p.825,V>I","rs2066715",0.11,0.42,0.43,0.41,0.36,0.42,"杂合","无关","有rs号，MAF>=5%","17430597;19041386;19606474;21247457;23355348","原发性α低脂蛋白血症",null,604091,5,2,7,3,"ABCA1",1,160,"错义",12220,"0.49=102/209",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28165",98,95,0.97,{"$nulls":3},"A有","12308A","ABCA1","chr9:107591272","c.2040G>T(E15)","p.680,I>I","rs2853579",0.34,0.74,0.73,0.74,0.69,0.71,"纯合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"同义",13203,"0.97=157/162",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28165",98,95,0.97,{"$nulls":3},"A有","12308A","ABCA1","chr9:107591272","c.2040G>T(E15)","p.680,I>I","rs2853579",0.34,0.74,0.73,0.74,0.69,0.71,"纯合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,1,7,3,"ABCA1",1,160,"同义",13203,"0.97=157/162",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28165",98,95,0.97,{"$nulls":3},"A有","12308A","ABCA1","chr9:107591272","c.2040G>T(E15)","p.680,I>I","rs2853579",0.34,0.74,0.73,0.74,0.69,0.71,"纯合","无关","有rs号，MAF>=5%",null,"原发性α低脂蛋白血症",null,604091,5,1,7,3,"ABCA1",1,160,"同义",13203,"0.97=157/162",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28168",107,107,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107620867","c.656C>T(E7)","p.219,R>K","rs2230806",0.44,0.44,0.42,0.47,0.44,0.45,"纯合","无关","有疾病相关报道，MAF>=5%","12600718;16725228;17324514;17430597;17553166;18974877;19041386;19606474;20170916;20185793;20797885;21310416;22668585;23021345;23111454;23372063;23533563;24854628;","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"错义",11200,"1.00=180/180",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28168",107,107,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107620867","c.656C>T(E7)","p.219,R>K","rs2230806",0.44,0.44,0.42,0.47,0.44,0.45,"纯合","无关","有疾病相关报道，MAF>=5%","12600718;16725228;17324514;17430597;17553166;18974877;19041386;19606474;20170916;20185793;20797885;21310416;22668585;23021345;23111454;23372063;23533563;24854628;","丹吉尔病","AR",205400,5,1,7,3,"ABCA1",1,160,"错义",11200,"1.00=180/180",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28168",107,107,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107620867","c.656C>T(E7)","p.219,R>K","rs2230806",0.44,0.44,0.42,0.47,0.44,0.45,"纯合","无关","有疾病相关报道，MAF>=5%","12600718;16725228;17324514;17430597;17553166;18974877;19041386;19606474;20170916;20185793;20797885;21310416;22668585;23021345;23111454;23372063;23533563;24854628;","原发性α低脂蛋白血症",null,604091,5,1,7,3,"ABCA1",1,160,"错义",11200,"1.00=180/180",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28170",128,128,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107624029","c.474C>T(E6)","p.158,L>L","rs2230805",0.37,0.41,0.4,0.43,0.4,0.42,"纯合","无关","有rs号，MAF>=5%","17553166;19606474;20167577","家族性高胆固醇血症","AD",143890,5,1,7,3,"ABCA1",1,160,"同义",13203,"1.00=212/213",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28170",128,128,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107624029","c.474C>T(E6)","p.158,L>L","rs2230805",0.37,0.41,0.4,0.43,0.4,0.42,"纯合","无关","有rs号，MAF>=5%","17553166;19606474;20167577","丹吉尔病","AR",205400,5,1,7,3,"ABCA1",1,160,"同义",13203,"1.00=212/213",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28170",128,128,1,{"$nulls":3},"A有","12308A","ABCA1","chr9:107624029","c.474C>T(E6)","p.158,L>L","rs2230805",0.37,0.41,0.4,0.43,0.4,0.42,"纯合","无关","有rs号，MAF>=5%","17553166;19606474;20167577","原发性α低脂蛋白血症",null,604091,5,1,7,3,"ABCA1",1,160,"同义",13203,"1.00=212/213",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26040",6,4,0.67,{"$nulls":3},"A有","12308A","ABCA10","chr17:67144684","m.5795T>A(E40)","非编码区","rs1974577",0.71,0.47,0.51,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"非编码区",14200,"0.40=4/10",null,10349,"17q24","NM_080282.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26039",108,57,0.53,{"$nulls":3},"A有","12308A","ABCA10","chr17:67144884","m.5595G>T(E40)","非编码区","rs1974578",0.49,0.32,0.38,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"非编码区",14200,"0.51=87/170",null,10349,"17q24","NM_080282.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26043",154,77,0.5,{"$nulls":3},"A有","12308A","ABCA10","chr17:67178316","c.2747A>G(E23)","p.916,M>T","rs4968849",0.71,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"错义",12220,"0.46=127/278",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26041",68,32,0.47,{"$nulls":3},"A有","12308A","ABCA10","chr17:67178954","IVS21-5C>T","剪切位点","rs4968851",0.69,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"剪切位点",16202,"0.49=47/96",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26044",82,38,0.46,{"$nulls":3},"A有","12308A","ABCA10","chr17:67210992","c.859T>C(E10)","p.287,I>V","rs11657804",0.26,0.25,0.29,0.21,0.18,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"错义",12220,"0.47=60/127",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26045",108,54,0.5,{"$nulls":3},"A有","12308A","ABCA10","chr17:67212031","c.783A>G(E9)","p.261,Y>Y","rs11077414",null,0.31,0.36,0.27,0.27,0.3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"ABCA10",1,270,"同义",13303,"0.52=90/174",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26042",133,65,0.49,{"$nulls":3},"A有","12308A","ABCA10","chr17:67212423","c.607G>A(E8)","p.203,P>S","rs9909216",0.58,0.31,0.36,0.27,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"错义",12220,"0.46=105/226",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26038",96,43,0.45,{"$nulls":3},"A有","12308A","ABCA10","chr17:67215712","c.504C>T(E7)","p.168,V>V","rs12941264",0.6,0.31,0.36,0.26,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCA10",1,270,"同义",13203,"0.42=65/156",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25579",108,58,0.54,{"$nulls":3},"A有","12308A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,4,2,"ABCA12",1,250,"同义",13203,"0.50=89/177",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25579",108,58,0.54,{"$nulls":3},"A有","12308A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,3,4,2,"ABCA12",1,250,"同义",13203,"0.50=89/177",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25580",63,63,1,{"$nulls":3},"A有","12308A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,1,4,2,"ABCA12",1,250,"错义",12220,"1.00=98/98",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25580",63,63,1,{"$nulls":3},"A有","12308A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,1,4,2,"ABCA12",1,250,"错义",12220,"1.00=98/98",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25581",240,117,0.49,{"$nulls":3},"A有","12308A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,4,2,"ABCA12",1,250,"同义",13203,"0.50=219/435",null,26154,"2q34","NM_173076.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25581",240,117,0.49,{"$nulls":3},"A有","12308A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,3,4,2,"ABCA12",1,250,"同义",13203,"0.50=219/435",null,26154,"2q34","NM_173076.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25582",33,7,0.21,{"$nulls":3},"A有","12308A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,4,2,"ABCA12",1,250,"非编码区",2600,"0.20=7/35",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25582",33,7,0.21,{"$nulls":3},"A有","12308A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,3,4,2,"ABCA12",1,250,"非编码区",2600,"0.20=7/35",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19884",136,60,0.44,{"$nulls":3},"A有","12308A","ABCA13","chr7:48237824","IVS2-10C>T","剪切位点","rs17060",0.22,0.31,0.31,0.3,null,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"剪切位点",16202,"0.41=93/227",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19893",133,62,0.47,{"$nulls":3},"A有","12308A","ABCA13","chr7:48311563","c.2300T>G(E17)","p.767,I>S","rs17712293",0.19,0.25,0.19,0.31,0.28,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12210,"0.45=97/216",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19891",73,31,0.42,{"$nulls":3},"A有","12308A","ABCA13","chr7:48313510","c.4247A>G(E17)","p.1416,H>R","rs17547830",0.19,0.014,0.0095,0.019,0.0069,0.012,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12210,"0.41=41/101",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19888",115,63,0.55,{"$nulls":3},"A有","12308A","ABCA13","chr7:48314279","c.5016G>A(E17)","p.1672,K>K","rs6955212",0.19,0.25,0.19,0.31,0.28,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"同义",13203,"0.53=92/172",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19887",43,24,0.56,{"$nulls":3},"A有","12308A","ABCA13","chr7:48314798","c.5535G>T(E17)","p.1845,G>G","rs13233225",0.22,0.012,0.0048,0.019,0.008,0.012,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"同义",13203,"0.58=40/69",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19883",165,94,0.57,{"$nulls":3},"A有","12308A","ABCA13","chr7:48315360","c.6097A>G(E17)","p.2033,N>D","rs17661364",0.046,0.05,0.048,0.053,0.07,0.064,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,16,0,"ABCA13",1,170,"错义",12110,"0.58=151/259",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19879",74,38,0.51,{"$nulls":3},"A有","12308A","ABCA13","chr7:48315796","c.6533C>A(E17)","p.2178,A>E","rs1880736",0.81,0.99,1,0.98,0.98,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"0.45=49/108",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19892",52,32,0.62,{"$nulls":3},"A有","12308A","ABCA13","chr7:48317683","IVS17-8A>T","剪切位点","rs10246853",0.21,0.012,0.0048,0.019,null,0.036,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"剪切位点",16202,"0.67=56/83",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19882",85,39,0.46,{"$nulls":3},"A有","12308A","ABCA13","chr7:48318811","c.8020C>T(E18)","p.2674,R>W","rs2222648",0.85,0.99,1,0.98,0.96,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"0.44=59/134",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19889",105,56,0.53,{"$nulls":3},"A有","12308A","ABCA13","chr7:48319299","c.8508A>G(E18)","p.2836,E>E",{"$nulls":6},0.00023,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,16,0,"ABCA13",1,170,"同义",13403,"0.48=78/163",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19885",207,86,0.42,{"$nulls":3},"A有","12308A","ABCA13","chr7:48336844","c.9135C>T(E22)","p.3045,L>L","rs6583546",0.77,0.99,1,0.98,0.99,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"同义",13203,"0.39=152/391",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19880",19,9,0.47,{"$nulls":3},"A有","12308A","ABCA13","chr7:48450157","c.12111T>C(E40)","p.4037,A>A","rs17548783",0.46,0.64,0.59,0.69,0.61,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"同义",13203,"0.55=18/33",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19890",59,30,0.51,{"$nulls":3},"A有","12308A","ABCA13","chr7:48467355","IVS41-8T>C","剪切位点","rs13233421",0.28,0.37,0.37,0.36,null,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"剪切位点",16202,"0.56=55/99",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19886",93,47,0.51,{"$nulls":3},"A有","12308A","ABCA13","chr7:48506566","c.12829A>G(E44)","p.4277,N>D","rs4917152",0.23,0.22,0.18,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"0.49=70/143",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19881",101,52,0.51,{"$nulls":3},"A有","12308A","ABCA13","chr7:48506642","c.12905A>G(E44)","p.4302,Q>R","rs4917153",0.23,0.22,0.18,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"0.52=87/167",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19894",74,74,1,{"$nulls":3},"A有","12308A","ABCA13","chr7:48545976","c.13336A>G(E49)","p.4446,K>E","rs6583448",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"ABCA13",1,170,"错义",12220,"1.00=114/114",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11338",14,14,1,{"$nulls":3},"A有","12308A","ABCA2","chr9:139904037","c.6690A>G(E44)","p.2230,L>L","rs7048567",0.72,0.83,0.83,0.84,0.81,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCA2",0.92,12,"同义",13203,"1.00=22/22",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11339",10,10,1,{"$nulls":3},"A有","12308A","ABCA2","chr9:139906359","c.5472G>A(E35)","p.1824,H>H","rs2271862",0.69,0.83,0.82,0.84,0.76,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCA2",0.92,12,"同义",13203,"1.00=13/13",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11341",3,2,0.67,{"$nulls":3},"A有","12308A","ABCA2","chr9:139907219","c.5026C>T(E31)","p.1676,G>S","rs184422644",2.8E-3,0.012,0.014,0.0097,0.011,0.0095,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ABCA2",0.92,12,"错义",12110,"0.67=2/3",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11337",13,13,1,{"$nulls":3},"A有","12308A","ABCA2","chr9:139912484","c.2037A>G(E15)","p.679,D>D","rs908832",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%","15649702;16752360",{"$nulls":3},5,null,5,0,"ABCA2",0.92,12,"同义",13203,"1.00=21/21",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11343",9,9,1,{"$nulls":3},"A有","12308A","ABCA2","chr9:139913239","c.1751T>G(E13)","p.584,H>P","rs908828",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCA2",0.92,12,"错义",12230,"1.00=16/16",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15898",30,30,1,{"$nulls":3},"A有","12308A","ABCA3","chr16:2331430","c.4116A>G(E27)","p.1372,S>S","rs149532",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",18317237,"肺泡蛋白沉着症3型","AR",610921,5,1,2,1,"ABCA3",1,43,"同义",13203,"1.00=54/54",null,21,"16p13.3","NM_001089.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15896",43,18,0.42,{"$nulls":3},"A有","12308A","ABCA3","chr16:2376117","c.213G>A(E5)","p.71,F>F","rs117515055",0.0056,0.026,0.024,0.029,0.025,0.032,"杂合","未知","预测范围之外的同义突变",null,"肺泡蛋白沉着症3型","AR",610921,4,3,2,1,"ABCA3",1,43,"同义",13103,"0.45=30/67",null,21,"16p13.3","NM_001089.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14886",138,137,0.99,{"$nulls":3},"A有","12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14886",138,137,0.99,{"$nulls":3},"A有","12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14886",138,137,0.99,{"$nulls":3},"A有","12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14886",138,137,0.99,{"$nulls":3},"A有","12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14886",138,137,0.99,{"$nulls":3},"A有","12308A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=249/250",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14887",173,73,0.42,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12308A(99)v14887",173,73,0.42,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"斯特格病变1型","AR",248200,5,3,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12308A(99)v14887",173,73,0.42,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"视网膜色素变性19型-AR",null,601718,5,2,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12308A(99)v14887",173,73,0.42,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12308A(99)v14887",173,73,0.42,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,5,5,"ABCA4",1,120,"非编码区",2500,"0.42=82/197",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12308A(99)v14884",163,64,0.39,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14884",163,64,0.39,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","斯特格病变1型","AR",248200,5,3,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14884",163,64,0.39,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","视网膜色素变性19型-AR",null,601718,5,2,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14884",163,64,0.39,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","视锥-视杆细胞营养不良3型",null,604116,5,2,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14884",163,64,0.39,{"$nulls":3},"A有","12308A","ABCA4","chr1:94544234","c.1268T>C(E10)","p.423,H>R","rs3112831",0.22,0.23,0.24,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%","18523590;19430638;21106043","青少年型视网膜色素变性-AR","AR",613341,5,3,5,5,"ABCA4",1,120,"错义",12220,"0.35=97/279",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14885",23,13,0.57,{"$nulls":3},"A有","12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14885",23,13,0.57,{"$nulls":3},"A有","12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14885",23,13,0.57,{"$nulls":3},"A有","12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14885",23,13,0.57,{"$nulls":3},"A有","12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14885",23,13,0.57,{"$nulls":3},"A有","12308A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,5,5,"ABCA4",1,120,"错义",12210,"0.60=21/35",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14883",127,127,1,{"$nulls":3},"A有","12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"年龄相关性黄斑变性2型","AD",153800,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14883",127,127,1,{"$nulls":3},"A有","12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"斯特格病变1型","AR",248200,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14883",127,127,1,{"$nulls":3},"A有","12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"视网膜色素变性19型-AR",null,601718,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14883",127,127,1,{"$nulls":3},"A有","12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"视锥-视杆细胞营养不良3型",null,604116,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14883",127,127,1,{"$nulls":3},"A有","12308A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"青少年型视网膜色素变性-AR","AR",613341,5,1,5,5,"ABCA4",1,120,"同义",13203,"1.00=198/198",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19597",192,84,0.44,{"$nulls":3},"A有","12308A","ABCA5","chr17:67260926","c.3265A>G(E23)","p.1089,L>L","rs12449649",0.38,0.39,0.42,0.35,0.29,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCA5",1,290,"同义",13203,"0.41=130/317",null,23461,"17q24.3","NM_018672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19598",144,74,0.51,{"$nulls":3},"A有","12308A","ABCA5","chr17:67267317","c.2878T>C(E20)","p.960,M>V","rs557491",0.5,0.62,0.59,0.65,0.68,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCA5",1,290,"错义",12220,"0.53=134/251",null,23461,"17q24.3","NM_018672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19599",134,134,1,{"$nulls":3},"A有","12308A","ABCA5","chr17:67273882","c.2494C>A(E18)","p.832,A>S","rs536009",0.8,0.95,0.95,0.96,0.89,0.95,"纯合","无关","有rs号，MAF>=5%",24957074,{"$nulls":3},5,null,3,0,"ABCA5",1,290,"错义",12220,"0.99=232/234",null,23461,"17q24.3","NM_018672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2282",171,91,0.53,{"$nulls":3},"A有","12308A","ABCA6","chr17:67075072","m.5071G>A(E39)","非编码区","rs2302290",0.61,0.27,0.32,0.21,null,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,270,"非编码区",14200,"0.51=147/286",null,23460,"17q24.3","NM_080284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2285",141,64,0.45,{"$nulls":3},"A有","12308A","ABCA6","chr17:67081830","c.3965T>C(E31)","p.1322,N>S","rs2302134",0.46,0.32,0.37,0.28,0.25,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,270,"错义",12210,"0.44=122/275",null,23460,"17q24.3","NM_080284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2284",265,265,1,{"$nulls":3},"A有","12308A","ABCA6","chr17:67101718","c.2625C>T(E20)","p.875,M>I","rs7212506",0.75,0.85,0.86,0.84,0.86,0.85,"纯合","无关","有rs号，MAF>=5%",17486107,{"$nulls":3},5,null,4,0,"ABCA6",1,270,"错义",12220,"1.00=484/484",null,23460,"17q24.3","NM_080284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2283",187,86,0.46,{"$nulls":3},"A有","12308A","ABCA6","chr17:67125840","c.844C>T(E7)","p.282,V>I","rs4968839",0.56,0.45,0.5,0.41,0.37,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,270,"错义",12220,"0.47=159/339",null,23460,"17q24.3","NM_080284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23305",5,2,0.4,{"$nulls":3},"A有","12308A","ABCA7","chr19:1041852","c.183G>T(E4)","p.61,L>L","rs3764644",0.081,0.087,0.081,0.092,0.086,0.096,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,25,"同义",13203,"0.57=4/7",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23310",20,9,0.45,{"$nulls":3},"A有","12308A","ABCA7","chr19:1042809","c.563A>G(E7)","p.188,E>G","rs3764645",0.4,0.51,0.51,0.51,0.47,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,25,"错义",12210,"0.34=12/35",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23315",31,12,0.39,{"$nulls":3},"A有","12308A","ABCA7","chr19:1043748","c.955A>G(E10)","p.319,T>A","rs3752232",0.11,0.087,0.081,0.092,0.083,0.085,"杂合","无关","有rs号，MAF>=5%",24530172,{"$nulls":3},5,null,12,0,"ABCA7",0.94,25,"错义",12220,"0.35=18/51",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23318",3,3,1,{"$nulls":3},"A有","12308A","ABCA7","chr19:1044753","IVS11+10T>C","非编码区","rs3764648",{"$nulls":5},0.69,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,12,0,"ABCA7",0.94,25,"非编码区",16303,"1.00=4/4",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23309",7,4,0.57,{"$nulls":3},"A有","12308A","ABCA7","chr19:1047161","c.1851A>G(E15)","p.617,G>G","rs3752237",0.7,0.84,0.84,0.83,0.74,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,25,"同义",13203,"0.75=12/16",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23308",66,26,0.39,{"$nulls":3},"A有","12308A","ABCA7","chr19:1049012","IVS17+8A>C","非编码区","rs4147912",0.82,0.83,0.83,0.83,null,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,25,"非编码区",16203,"0.38=43/114",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23313",7,7,1,{"$nulls":3},"A有","12308A","ABCA7","chr19:1053524","c.3417C>G(E24)","p.1139,L>L","rs3752241",0.18,0.16,0.15,0.17,0.13,0.28,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,25,"同义",13203,"1.00=8/8",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23319",10,5,0.5,{"$nulls":3},"A有","12308A","ABCA7","chr19:1054060","c.3528A>G(E26)","p.1176,L>L","rs3752243",0.54,0.42,0.42,0.41,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,25,"同义",13203,"0.47=8/17",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23306",11,5,0.45,{"$nulls":3},"A有","12308A","ABCA7","chr19:1056065","c.4239A>G(E32)","p.1413,R>R","rs881768",0.44,0.39,0.4,0.39,0.34,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,25,"剪切位点",13202,"0.42=5/12",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23317",28,27,0.96,{"$nulls":3},"A有","12308A","ABCA7","chr19:1056492","c.4580G>C(E33)","p.1527,G>A","rs3752246",0.83,0.7,0.69,0.72,0.66,0.66,"纯合","无关","有rs号，MAF>=5%","21460841;23669301;24643655",{"$nulls":3},5,null,12,0,"ABCA7",0.94,25,"错义",12220,"0.98=45/46",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23307",70,33,0.47,{"$nulls":3},"A有","12308A","ABCA7","chr19:1058176","c.5057A>G(E37)","p.1686,Q>R","rs4147918",0.057,0.15,0.14,0.17,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",20018063,{"$nulls":3},5,null,12,0,"ABCA7",0.94,25,"错义",12220,"0.46=49/107",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23314",20,5,0.25,{"$nulls":3},"A有","12308A","ABCA7","chr19:1061804","c.5487T>C(E41)","p.1829,N>N","rs78320196",0.06,0.022,0.014,0.029,0.026,0.03,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,25,"同义",13203,"0.24=8/33",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4966",90,90,1,{"$nulls":3},"A有","12308A","ABCA8","chr17:66872802","c.4122G>C(E32)","p.1374,P>P","rs1481",0.81,0.99,1,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCA8",1,260,"同义",13203,"0.99=159/160",null,10351,"17q24","NM_007168.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11083",190,190,1,{"$nulls":3},"A有","12308A","ABCA9","chr17:67031457","c.1058C>T(E8)","p.353,R>H","rs1860447",0.86,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCA9",1,250,"错义",12220,"0.99=305/308",null,10350,"17q24.2","NM_080283.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4823",77,43,0.56,{"$nulls":3},"A有","12308A","ABCB1","chr7:87138645","c.3435A>G(E27)","p.1145,I>I","rs1045642",null,0.66,0.7,0.62,0.55,0.62,"杂合","未知","预测范围之外的同义突变","15197162;15805193;16999857;17146660;17366837;17548681;17674045;17913323;18182569;18213362;18285546;18424454;18518969;18547414;18698231;18725235;18784455;18812236;18854777;18936436;19155191;19193698;19197249;19285141;19373654;19437139;19694740;19740399;19930591;20170205;20214406;20354687;20389299;20533057;20859246;21102498;21172166;21185600;21247447;21332314;21364332;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22135187;22136368;22176633;22306099;22311042;22396794;22434582;22569204;22630058;22672924;22859359;22875622;22910404;23107763;23133420;23133441;23188198;23279665;23443032;23504525;23647060;23733030;23810503;23829278;23894093;23896815;23926124;23996099;24127120;24240480;24434428;24444408;24469730;24499375;24732756;24756092;24797400;24810093;24883056;24892773;24915124;24918524;24933103;24944790;24950410;24991206;25007187;25051347;25122423","秋水仙碱抵抗",null,120080,4,2,3,2,"ABCB1",1,240,"同义",13303,"0.58=68/118",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4823",77,43,0.56,{"$nulls":3},"A有","12308A","ABCB1","chr7:87138645","c.3435A>G(E27)","p.1145,I>I","rs1045642",null,0.66,0.7,0.62,0.55,0.62,"杂合","未知","预测范围之外的同义突变","15197162;15805193;16999857;17146660;17366837;17548681;17674045;17913323;18182569;18213362;18285546;18424454;18518969;18547414;18698231;18725235;18784455;18812236;18854777;18936436;19155191;19193698;19197249;19285141;19373654;19437139;19694740;19740399;19930591;20170205;20214406;20354687;20389299;20533057;20859246;21102498;21172166;21185600;21247447;21332314;21364332;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22135187;22136368;22176633;22306099;22311042;22396794;22434582;22569204;22630058;22672924;22859359;22875622;22910404;23107763;23133420;23133441;23188198;23279665;23443032;23504525;23647060;23733030;23810503;23829278;23894093;23896815;23926124;23996099;24127120;24240480;24434428;24444408;24469730;24499375;24732756;24756092;24797400;24810093;24883056;24892773;24915124;24918524;24933103;24944790;24950410;24991206;25007187;25051347;25122423","炎性肠病13型",null,612244,4,2,3,2,"ABCB1",1,240,"同义",13303,"0.58=68/118",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4824",204,119,0.58,{"$nulls":3},"A有","12308A","ABCB1","chr7:87160618","c.2677A>C(E22)","p.893,S>A","rs2032582",null,0.48,0.53,0.44,0.4,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","秋水仙碱抵抗",null,120080,3,2,3,2,"ABCB1",1,240,"错义",12320,"0.58=216/371",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4824",204,119,0.58,{"$nulls":3},"A有","12308A","ABCB1","chr7:87160618","c.2677A>C(E22)","p.893,S>A","rs2032582",null,0.48,0.53,0.44,0.4,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","炎性肠病13型",null,612244,3,2,3,2,"ABCB1",1,240,"错义",12320,"0.58=216/371",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4822",112,112,1,{"$nulls":3},"A有","12308A","ABCB1","chr7:87229501","m.493T>C(E3)","非编码区","rs2214102",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"秋水仙碱抵抗",null,120080,5,1,3,2,"ABCB1",1,240,"非编码区",14200,"1.00=214/214",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4822",112,112,1,{"$nulls":3},"A有","12308A","ABCB1","chr7:87229501","m.493T>C(E3)","非编码区","rs2214102",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"炎性肠病13型",null,612244,5,1,3,2,"ABCB1",1,240,"非编码区",14200,"1.00=214/214",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22616",126,49,0.39,{"$nulls":3},"A有","12308A","ABCB10","chr1:229663065-229663069","IVS8-10至IVS8-14:缺失AGGAA","非编码区","rs113712941",1,1,1,1,0.11,1,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"ABCB10",0.77,140,"非编码区",2500,"0.39=62/159",null,23456,"1q42.13","NM_012089.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3260",2,2,1,{"$nulls":3},"A有","12308A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,5,2,"ABCB11",1,210,"非编码区",14300,"1.00=3/3",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3260",2,2,1,{"$nulls":3},"A有","12308A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"良性复发性肝内胆汁淤积2型","AR",605479,3,1,5,2,"ABCB11",1,210,"非编码区",14300,"1.00=3/3",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3259",51,21,0.41,{"$nulls":3},"A有","12308A","ABCB11","chr2:169789016","c.3084T>C(E24)","p.1028,A>A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.38=32/85",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3259",51,21,0.41,{"$nulls":3},"A有","12308A","ABCB11","chr2:169789016","c.3084T>C(E24)","p.1028,A>A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.38=32/85",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3257",64,64,1,{"$nulls":3},"A有","12308A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,5,2,"ABCB11",1,210,"错义",12320,"1.00=102/102",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3257",64,64,1,{"$nulls":3},"A有","12308A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","良性复发性肝内胆汁淤积2型","AR",605479,3,1,5,2,"ABCB11",1,210,"错义",12320,"1.00=102/102",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3258",159,92,0.58,{"$nulls":3},"A有","12308A","ABCB11","chr2:169847412","c.807A>G(E9)","p.269,Y>Y","rs2287616",0.065,0.31,0.27,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.59=181/309",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3258",159,92,0.58,{"$nulls":3},"A有","12308A","ABCB11","chr2:169847412","c.807A>G(E9)","p.269,Y>Y","rs2287616",0.065,0.31,0.27,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.59=181/309",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3256",240,133,0.55,{"$nulls":3},"A有","12308A","ABCB11","chr2:169870855","c.108A>G(E4)","p.36,D>D","rs3815675",0.063,0.3,0.26,0.34,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.56=226/403",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3256",240,133,0.55,{"$nulls":3},"A有","12308A","ABCB11","chr2:169870855","c.108A>G(E4)","p.36,D>D","rs3815675",0.063,0.3,0.26,0.34,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,210,"同义",13203,"0.56=226/403",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22781",93,40,0.43,{"$nulls":3},"A有","12308A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"I型胆囊疾病","AD,AR",600803,5,1,1,3,"ABCB4",1,260,"同义",13203,"0.38=58/154",null,5244,"7q21.1","NM_000443.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22781",93,40,0.43,{"$nulls":3},"A有","12308A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"进行性家族性肝内胆汁瘀积3型","AR",602347,5,3,1,3,"ABCB4",1,260,"同义",13203,"0.38=58/154",null,5244,"7q21.1","NM_000443.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22781",93,40,0.43,{"$nulls":3},"A有","12308A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,1,3,"ABCB4",1,260,"同义",13203,"0.38=58/154",null,5244,"7q21.1","NM_000443.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13424",124,56,0.45,{"$nulls":3},"A有","12308A","ABCB5","chr7:20685508","IVS8+5T>G","剪切位点","rs11983326",0.32,0.16,0.16,0.15,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCB5",1,220,"剪切位点",16202,"0.44=88/199",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13428",64,31,0.48,{"$nulls":3},"A有","12308A","ABCB5","chr7:20698270","c.1678A>G(E14)","p.560,K>E","rs2301641",0.36,0.16,0.17,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%","21298007;23770371",{"$nulls":3},5,null,4,0,"ABCB5",1,220,"错义",12220,"0.48=53/111",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13425",9,8,0.89,{"$nulls":3},"A有","12308A","ABCB5","chr7:20706645","m.1182G>T(E6)","非编码区","rs12535128",1,1,1,1,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCB5",1,220,"非编码区",14200,"0.89=8/9",null,340273,"7p21.1","NM_001163993.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13427",2,2,1,{"$nulls":3},"A有","12308A","ABCB5","chr7:20706751","m.1288T>C(E6)","非编码区","rs12537843",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCB5",1,220,"非编码区",14200,"1.00=2/2",null,340273,"7p21.1","NM_001163993.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11510",63,36,0.57,{"$nulls":3},"A有","12308A","ABCC1","chr16:16138322","c.825T>C(E8)","p.275,V>V","rs246221",0.42,0.46,0.45,0.47,0.44,0.44,"杂合","无关","有rs号，MAF>=5%","16684361;23396606",{"$nulls":3},5,null,6,0,"ABCC1",0.99,91,"同义",13203,"0.56=55/98",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11508",21,11,0.52,{"$nulls":3},"A有","12308A","ABCC1","chr16:16139714","c.1062T>C(E9)","p.354,N>N","rs35587",0.42,0.46,0.44,0.47,0.43,0.44,"杂合","无关","有rs号，MAF>=5%",16684361,{"$nulls":3},5,null,6,0,"ABCC1",0.99,91,"同义",13203,"0.50=15/30",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11506",22,13,0.59,{"$nulls":3},"A有","12308A","ABCC1","chr16:16139878","IVS9+8A>G","非编码区","rs35588",0.41,0.46,0.44,0.47,null,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCC1",0.99,91,"非编码区",16203,"0.50=19/38",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11507",42,42,1,{"$nulls":3},"A有","12308A","ABCC1","chr16:16162019","c.1684T>C(E13)","p.562,L>L","rs35605",0.79,0.79,0.84,0.75,0.77,0.79,"纯合","无关","有rs号，MAF>=5%","16684361;24944790",{"$nulls":3},5,null,6,0,"ABCC1",0.99,91,"同义",13203,"1.00=83/83",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11509",15,8,0.53,{"$nulls":3},"A有","12308A","ABCC1","chr16:16173227","c.2007C>T(E16)","p.669,P>P","rs2301666",0.0058,0.031,0.029,0.034,0.038,0.026,"杂合","未知","预测范围之外的同义突变",16684361,{"$nulls":3},4,null,6,0,"ABCC1",0.99,91,"同义",13103,"0.46=12/26",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11511",45,45,1,{"$nulls":3},"A有","12308A","ABCC1","chr16:16205449","IVS22+10G>A","非编码区","rs3851716",0.93,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCC1",0.99,91,"非编码区",16203,"1.00=59/59",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30329",46,46,1,{"$nulls":3},"A有","12308A","ABCC10","chr6:43399837","m.349A>G(E1)","非编码区","rs700008",0.88,0.95,0.95,0.95,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCC10",0.99,47,"非编码区",14200,"1.00=82/82",null,89845,"6p21.1","NM_033450.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30327",25,13,0.52,{"$nulls":3},"A有","12308A","ABCC10","chr6:43401105","IVS3+7G>A","非编码区","rs9394952",0.36,0.6,0.59,0.61,null,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCC10",0.99,47,"非编码区",16203,"0.52=23/44",null,89845,"6p21.1","NM_001198934.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30328",59,33,0.56,{"$nulls":3},"A有","12308A","ABCC10","chr6:43403994","IVS6+9G>T","非编码区",{"$nulls":6},3.5E-4,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"ABCC10",0.99,47,"非编码区",16403,"0.54=48/89",null,89845,"6p21.1","NM_001198934.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8898",63,35,0.56,{"$nulls":3},"A有","12308A","ABCC11","chr16:48234327","c.1942C>T(E15)","p.648,V>I","rs16945930",0.072,0.36,0.36,0.35,0.33,0.33,"杂合","无关","有rs号，MAF>=5%",null,"顶浆分泌腺变异","AD",117800,5,1,3,1,"ABCC11",1,130,"错义",12220,"0.57=47/82",null,85320,"16q12.1","NM_032583.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8900",62,36,0.58,{"$nulls":3},"A有","12308A","ABCC11","chr16:48234330","c.1939C>T(E15)","p.647,A>T","rs200323911",1E-3,0.0096,0,0.019,0.0051,0.0087,"杂合","可能相关","蛋白结构预测结果为有害",null,"顶浆分泌腺变异","AD",117800,2,1,3,1,"ABCC11",1,130,"错义",12110,"0.59=49/83",null,85320,"16q12.1","NM_032583.3","位于基因组多拷贝区域+DNA结构正常","疑似阳性"]
["12308A(99)v8899",43,42,0.98,{"$nulls":3},"A有","12308A","ABCC11","chr16:48258198","c.538C>T(E5)","p.180,G>R","rs17822931",0.3,0.91,0.84,0.97,0.87,0.88,"纯合","无关","有rs号，MAF>=5%","16255080;16444273;17394018;18037328;18817904;19650936;19737746;20937735;21423094;23325016;23760047;24019265","顶浆分泌腺变异","AD",117800,5,1,3,1,"ABCC11",1,130,"错义",12210,"0.98=64/65",null,85320,"16q12.1","NM_032583.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1175",122,61,0.5,{"$nulls":3},"A有","12308A","ABCC12","chr16:48119547","c.3785C>T(E27)","p.1262,R>H",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ABCC12",1,160,"错义",12410,"0.51=113/223",null,94160,"16q12.1","NM_033226.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1174",90,90,1,{"$nulls":3},"A有","12308A","ABCC12","chr16:48122582","c.3349G>A(E24)","p.1117,R>C","rs7193955",0.59,0.89,0.88,0.91,0.86,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCC12",1,160,"错义",12210,"1.00=141/141",null,94160,"16q12.1","NM_033226.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25097",117,117,1,{"$nulls":3},"A有","12308A","ABCC2","chr10:101544447","c.116A>T(E2)","p.39,Y>F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,1,1,"ABCC2",1,170,"错义",12230,"1.00=208/208",null,1244,"10q24","NM_000392.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5143",32,16,0.5,{"$nulls":3},"A有","12308A","ABCC3","chr17:48753423","c.3039C>T(E22)","p.1013,G>G","rs4148416",0.14,0.14,0.19,0.1,0.14,0.15,"杂合","无关","有rs号，MAF>=5%","17267408;24996541",{"$nulls":3},5,null,3,0,"ABCC3",1,73,"同义",13203,"0.44=23/52",null,8714,"17q22","NM_003786.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5142",20,9,0.45,{"$nulls":3},"A有","12308A","ABCC3","chr17:48761105","c.3942C>T(E27)","p.1314,H>H","rs2277624",0.29,0.23,0.26,0.2,0.28,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCC3",1,73,"同义",13203,"0.31=10/32",null,8714,"17q22","NM_003786.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5141",25,12,0.48,{"$nulls":3},"A有","12308A","ABCC3","chr17:48762173","c.4217C>T(E29)","p.1406,T>M","rs140060241",0.0006,0,0,0,0.008,0.006,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ABCC3",1,73,"错义",12120,"0.37=16/43",null,8714,"17q22","NM_003786.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20929",68,30,0.44,{"$nulls":3},"A有","12308A","ABCC4","chr13:95673791","m.4135A>C(E31)","非编码区","rs3742106",0.41,0.51,0.51,0.5,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABCC4",0.99,220,"非编码区",14200,"0.43=52/120",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20923",141,141,1,{"$nulls":3},"A有","12308A","ABCC4","chr13:95714976","c.3348C>T(E26)","p.1116,K>K","rs1751034",0.79,0.81,0.82,0.81,0.74,0.78,"纯合","无关","有rs号，MAF>=5%","18364470;24944790",{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.99=215/217",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20924",134,132,0.99,{"$nulls":3},"A有","12308A","ABCC4","chr13:95726541","c.2844A>G(E23)","p.948,F>F","rs1189466",0.9,0.82,0.84,0.81,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.99=248/251",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20928",75,75,1,{"$nulls":3},"A有","12308A","ABCC4","chr13:95727780","c.2712T>C(E22)","p.904,L>L","rs1678339",0.89,0.82,0.83,0.81,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"1.00=128/128",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20927",44,22,0.5,{"$nulls":3},"A有","12308A","ABCC4","chr13:95858978","c.969T>C(E8)","p.323,S>S","rs2274405",0.63,0.53,0.51,0.55,0.52,0.53,"杂合","无关","有rs号，MAF>=5%","18213362;18364470",{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.51=30/59",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20925",37,19,0.51,{"$nulls":3},"A有","12308A","ABCC4","chr13:95858996","c.951T>C(E8)","p.317,R>R","rs2274406",0.52,0.53,0.5,0.55,0.52,0.53,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.52=26/50",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20926",74,44,0.59,{"$nulls":3},"A有","12308A","ABCC4","chr13:95861804","c.669A>G(E6)","p.223,I>I","rs899494",0.81,0.78,0.8,0.77,0.76,0.78,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,220,"同义",13203,"0.58=71/123",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2603",106,57,0.54,{"$nulls":3},"A有","12308A","ABCC5","chr3:183660585","c.3624G>A(E25)","p.1208,L>L","rs3749442",0.25,0.44,0.47,0.41,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC5",1,130,"同义",13203,"0.55=94/172",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2604",145,145,1,{"$nulls":3},"A有","12308A","ABCC5","chr3:183685534","c.1782A>G(E12)","p.594,C>C","rs939336",0.69,0.85,0.87,0.82,0.83,0.86,"纯合","无关","有rs号，MAF>=5%","14507663;24924344",{"$nulls":3},5,null,4,0,"ABCC5",1,130,"同义",13203,"1.00=254/254",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2606",93,93,1,{"$nulls":3},"A有","12308A","ABCC5","chr3:183696402","c.1185A>G(E9)","p.395,A>A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",24924344,{"$nulls":3},5,null,4,0,"ABCC5",1,130,"同义",13203,"1.00=152/152",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2605",88,46,0.52,{"$nulls":3},"A有","12308A","ABCC5","chr3:183699516","c.1146T>C(E8)","p.382,Q>Q","rs7636910",0.33,0.39,0.39,0.39,0.39,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC5",1,130,"剪切位点",13202,"0.51=79/156",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15959",9,5,0.56,{"$nulls":3},"A有","12308A","ABCC6","chr16:16248624","c.4069G>A(E29)","p.1357,R>W","rs63750428",0.0002,0,0,0,0.00077,0.00063,"杂合","较高","有疾病相关报道","15645653;16086317;","早期弹性纤维假黄瘤","AD",177850,1,1,3,3,"ABCC6",0.99,62,"错义",11100,"0.45=5/11",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12308A(99)v15959",9,5,0.56,{"$nulls":3},"A有","12308A","ABCC6","chr16:16248624","c.4069G>A(E29)","p.1357,R>W","rs63750428",0.0002,0,0,0,0.00077,0.00063,"杂合","较高","有疾病相关报道","15645653;16086317;","弹性纤维假黄瘤","AR",264800,1,3,3,3,"ABCC6",0.99,62,"错义",11100,"0.45=5/11",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15959",9,5,0.56,{"$nulls":3},"A有","12308A","ABCC6","chr16:16248624","c.4069G>A(E29)","p.1357,R>W","rs63750428",0.0002,0,0,0,0.00077,0.00063,"杂合","较高","有疾病相关报道","15645653;16086317;","婴儿期广泛性动脉钙化2型","AR",614473,1,3,3,3,"ABCC6",0.99,62,"错义",11100,"0.45=5/11",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15958",63,63,1,{"$nulls":3},"A有","12308A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"早期弹性纤维假黄瘤","AD",177850,5,1,3,3,"ABCC6",0.99,62,"错义",12230,"1.00=103/103",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15958",63,63,1,{"$nulls":3},"A有","12308A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤","AR",264800,5,1,3,3,"ABCC6",0.99,62,"错义",12230,"1.00=103/103",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15958",63,63,1,{"$nulls":3},"A有","12308A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,3,3,"ABCC6",0.99,62,"错义",12230,"1.00=103/103",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15957",18,18,1,{"$nulls":3},"A有","12308A","ABCC6","chr16:16272670","c.2400T>C(E18)","p.800,G>G","rs7500834",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"早期弹性纤维假黄瘤","AD",177850,5,1,3,3,"ABCC6",0.99,62,"同义",13203,"1.00=25/25",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15957",18,18,1,{"$nulls":3},"A有","12308A","ABCC6","chr16:16272670","c.2400T>C(E18)","p.800,G>G","rs7500834",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤","AR",264800,5,1,3,3,"ABCC6",0.99,62,"同义",13203,"1.00=25/25",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15957",18,18,1,{"$nulls":3},"A有","12308A","ABCC6","chr16:16272670","c.2400T>C(E18)","p.800,G>G","rs7500834",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,3,3,"ABCC6",0.99,62,"同义",13203,"1.00=25/25",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19610",12,6,0.5,{"$nulls":3},"A有","12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19610",12,6,0.5,{"$nulls":3},"A有","12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19610",12,6,0.5,{"$nulls":3},"A有","12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19610",12,6,0.5,{"$nulls":3},"A有","12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19610",12,6,0.5,{"$nulls":3},"A有","12308A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,76,"错义",12220,"0.44=8/18",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19613",14,6,0.43,{"$nulls":3},"A有","12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19613",14,6,0.43,{"$nulls":3},"A有","12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19613",14,6,0.43,{"$nulls":3},"A有","12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19613",14,6,0.43,{"$nulls":3},"A有","12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19613",14,6,0.43,{"$nulls":3},"A有","12308A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,76,"同义",13203,"0.50=12/24",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19611",28,28,1,{"$nulls":3},"A有","12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19611",28,28,1,{"$nulls":3},"A有","12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19611",28,28,1,{"$nulls":3},"A有","12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19611",28,28,1,{"$nulls":3},"A有","12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19611",28,28,1,{"$nulls":3},"A有","12308A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"纯合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,1,4,5,"ABCC8",1,76,"剪切位点",16202,"1.00=36/36",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19612",31,19,0.61,{"$nulls":3},"A有","12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19612",31,19,0.61,{"$nulls":3},"A有","12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19612",31,19,0.61,{"$nulls":3},"A有","12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19612",31,19,0.61,{"$nulls":3},"A有","12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19612",31,19,0.61,{"$nulls":3},"A有","12308A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,76,"同义",13203,"0.61=30/49",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25784",109,109,1,{"$nulls":3},"A有","12308A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"多毛性骨软骨发育不良","AD",239850,5,1,2,3,"ABCC9",1,260,"同义",13203,"0.99=185/187",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25784",109,109,1,{"$nulls":3},"A有","12308A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1O型",null,608569,5,1,2,3,"ABCC9",1,260,"同义",13203,"0.99=185/187",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25784",109,109,1,{"$nulls":3},"A有","12308A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,260,"同义",13203,"0.99=185/187",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25783",36,13,0.36,{"$nulls":3},"A有","12308A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"多毛性骨软骨发育不良","AD",239850,5,1,2,3,"ABCC9",1,260,"剪切位点",16201,"0.38=19/50",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25783",36,13,0.36,{"$nulls":3},"A有","12308A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1O型",null,608569,5,2,2,3,"ABCC9",1,260,"剪切位点",16201,"0.38=19/50",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25783",36,13,0.36,{"$nulls":3},"A有","12308A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,260,"剪切位点",16201,"0.38=19/50",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18083",62,26,0.42,{"$nulls":3},"A有","12308A","ABCD3","chr1:94982785","m.2182A>T(E23)","非编码区","rs662813",0.28,0.35,0.39,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCD3",0.95,310,"非编码区",14200,"0.48=39/82",null,5825,"1p21.3","NM_002858.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v292",5,4,0.8,{"$nulls":3},"A有","12308A","ABCD4","chr14:74752984","m.2153C>T(E19)","非编码区","rs4148081",0.026,0.034,0.033,0.034,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"甲基丙二酸尿症和高胱氨酸尿 cblJ型","AR",614857,3,3,1,1,"ABCD4",1,79,"非编码区",14100,"0.67=4/6",null,5826,"14q24.3","NM_005050.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21251",96,95,0.99,{"$nulls":3},"A有","12308A","ABCE1","chr4:146046138","IVS16-4T>C","剪切位点","rs4835203",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCE1",1,270,"剪切位点",16202,"0.99=154/156",null,6059,"4q31","NM_001040876.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16699",61,61,1,{"$nulls":3},"A有","12308A","ABCF2","chr7:150916228","c.939G>A(E8)","p.313,Y>Y","rs6949587",0.42,0.69,0.76,0.63,0.67,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF2",1,94,"同义",13203,"1.00=99/99",null,10061,"7q36","NM_005692.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16698",78,78,1,{"$nulls":3},"A有","12308A","ABCF2","chr7:150921950","c.279A>G(E3)","p.93,L>L","rs6464133",0.74,0.9,0.91,0.88,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF2",1,94,"同义",13203,"1.00=123/123",null,10061,"7q36","NM_005692.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30479",17,6,0.35,{"$nulls":3},"A有","12308A","ABCF3","chr3:183903935-183903936","m.73(E1)至m.74(E1):插入G","非编码区","rs397755106",0.44,0.6,0.58,0.62,0.066,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ABCF3",1,84,"非编码区",2420,"0.33=6/18",null,55324,"3q27.1","NM_018358.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12308A(99)v30478",39,18,0.46,{"$nulls":3},"A有","12308A","ABCF3","chr3:183904049","c.54A>G(E1)","p.18,Q>Q","rs11539876",0.17,0.32,0.36,0.29,0.27,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF3",1,84,"同义",13203,"0.48=30/63",null,55324,"3q27.1","NM_018358.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4244",52,20,0.38,{"$nulls":3},"A有","12308A","ABCG1","chr21:43708018","c.993C>T(E9)","p.331,G>G","rs56140811",0.011,0,0,0,null,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ABCG1",0.98,81,"同义",13103,"0.35=32/91",null,9619,"21q22.3","NM_004915.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4245",81,24,0.3,{"$nulls":3},"A有","12308A","ABCG1","chr21:43708431-43708432","IVS10+9至IVS10+10:插入C","非编码区","rs2234720",{"$nulls":4},0.04,0.32,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"ABCG1",0.98,81,"非编码区",2500,"0.27=26/97",null,9619,"21q22.3","NM_004915.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4241",13,5,0.38,{"$nulls":3},"A有","12308A","ABCG1","chr21:43716647","m.2288C>T(E15)","非编码区","rs371391053",0.0004,0.0024,0.0048,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ABCG1",0.98,81,"非编码区",14100,"0.40=6/15",null,9619,"21q22.3","NM_004915.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22171",125,125,1,{"$nulls":3},"A有","12308A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"纯合","无关","有rs号，MAF>=5%","18547414;18834626;19474294;19503597;19506252;19842935;19890391;19930591;20053405;20130569;20162742;20162743;20389299;20421215;20470424;20714133;20837191;20858603;20959405;21918980;21983786;22015057;22112610;22229870;23100282;23263486;23280364;23438071;23712608;23778707;23827224;24499401;24513273;24532835;24598718;24637121;24777469;24827988;24883056;24944790;24991206;25128519","血浆尿酸浓度数量性状位点1","AD",138900,5,1,1,2,"ABCG2",1,240,"错义",12220,"1.00=192/192",null,9429,"4q22","NM_001257386.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22171",125,125,1,{"$nulls":3},"A有","12308A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"纯合","无关","有rs号，MAF>=5%","18547414;18834626;19474294;19503597;19506252;19842935;19890391;19930591;20053405;20130569;20162742;20162743;20389299;20421215;20470424;20714133;20837191;20858603;20959405;21918980;21983786;22015057;22112610;22229870;23100282;23263486;23280364;23438071;23712608;23778707;23827224;24499401;24513273;24532835;24598718;24637121;24777469;24827988;24883056;24944790;24991206;25128519","血型JUNIOR系统",null,614490,5,1,1,2,"ABCG2",1,240,"错义",12220,"1.00=192/192",null,9429,"4q22","NM_001257386.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13460",13,12,0.92,{"$nulls":3},"A有","12308A","ABCG4","chr11:119031841-119031842","m.2078(E15)至m.2079(E15):插入C","非编码区","rs397687210",1,1,1,1,0.15,1,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"ABCG4",1,63,"非编码区",2420,"0.93=13/14",null,64137,"11q23.3","NM_001142505.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1301",10,5,0.5,{"$nulls":3},"A有","12308A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"杂合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,3,6,2,"ABCG8",1,78,"非编码区",14200,"0.50=6/12",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1301",10,5,0.5,{"$nulls":3},"A有","12308A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"杂合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,2,6,2,"ABCG8",1,78,"非编码区",14200,"0.50=6/12",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1304",46,24,0.52,{"$nulls":3},"A有","12308A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"杂合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,3,6,2,"ABCG8",1,78,"剪切位点",16202,"0.52=39/75",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1304",46,24,0.52,{"$nulls":3},"A有","12308A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"杂合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,2,6,2,"ABCG8",1,78,"剪切位点",16202,"0.52=39/75",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1299",51,26,0.51,{"$nulls":3},"A有","12308A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"杂合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","谷甾醇血症","AR",210250,5,3,6,2,"ABCG8",1,78,"错义",12210,"0.51=41/81",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1299",51,26,0.51,{"$nulls":3},"A有","12308A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"杂合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","胆囊病4型",null,611465,5,2,6,2,"ABCG8",1,78,"错义",12210,"0.51=41/81",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1302",41,26,0.63,{"$nulls":3},"A有","12308A","ABCG8","chr2:44079913","c.870C>T(E6)","p.290,T>T","rs117221284",0.0012,0.0072,0,0.015,0.011,0.0029,"杂合","未知","预测范围之外的同义突变",null,"谷甾醇血症","AR",210250,4,3,6,2,"ABCG8",1,78,"同义",13103,"0.63=40/63",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1302",41,26,0.63,{"$nulls":3},"A有","12308A","ABCG8","chr2:44079913","c.870C>T(E6)","p.290,T>T","rs117221284",0.0012,0.0072,0,0.015,0.011,0.0029,"杂合","未知","预测范围之外的同义突变",null,"胆囊病4型",null,611465,4,2,6,2,"ABCG8",1,78,"同义",13103,"0.63=40/63",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1303",41,19,0.46,{"$nulls":3},"A有","12308A","ABCG8","chr2:44099433","c.1199C>A(E8)","p.400,T>K","rs4148217",0.22,0.1,0.1,0.1,0.12,0.11,"杂合","无关","有rs号，MAF>=5%","15996216;18778477;19005228;21062971;22548731","谷甾醇血症","AR",210250,5,3,6,2,"ABCG8",1,78,"错义",12220,"0.48=30/63",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1303",41,19,0.46,{"$nulls":3},"A有","12308A","ABCG8","chr2:44099433","c.1199C>A(E8)","p.400,T>K","rs4148217",0.22,0.1,0.1,0.1,0.12,0.11,"杂合","无关","有rs号，MAF>=5%","15996216;18778477;19005228;21062971;22548731","胆囊病4型",null,611465,5,2,6,2,"ABCG8",1,78,"错义",12220,"0.48=30/63",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1300",132,132,1,{"$nulls":3},"A有","12308A","ABCG8","chr2:44104925","c.1895T>C(E13)","p.632,V>A","rs6544718",null,1,1,1,0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害","15996216;16507104;20170916","谷甾醇血症","AR",210250,3,1,6,2,"ABCG8",1,78,"错义",12320,"1.00=226/227",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1300",132,132,1,{"$nulls":3},"A有","12308A","ABCG8","chr2:44104925","c.1895T>C(E13)","p.632,V>A","rs6544718",null,1,1,1,0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害","15996216;16507104;20170916","胆囊病4型",null,611465,3,1,6,2,"ABCG8",1,78,"错义",12320,"1.00=226/227",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12069",48,48,1,{"$nulls":3},"A有","12308A","ABHD1","chr2:27351948","c.411T>G(E3)","p.137,D>E","rs6715286",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD1",1,94,"错义",12230,"1.00=65/65",null,84696,"2p23.3","NM_032604.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30723",15,8,0.53,{"$nulls":3},"A有","12308A","ABHD11","chr7:73151644","c.540A>G(E4)","p.180,Y>Y","rs6460052",0.6,0.56,0.55,0.58,0.49,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD11",1,36,"同义",13203,"0.62=15/24",null,83451,"7q11.23","NM_148912.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16688",39,31,0.79,{"$nulls":3},"A有","12308A","ABHD12","chr20:25275554-25275559","m.1549(E13)至m.1544(E13):缺失TTAGTT","非编码区","rs16436",0.61,0.95,0.93,0.97,0.74,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,4,3,4,1,"ABHD12",0.85,120,"非编码区",2420,"0.79=31/39",null,26090,"20p11.21","NM_015600.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16686",7,7,1,{"$nulls":3},"A有","12308A","ABHD12","chr20:25281333","m.1624G>A(E13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,120,"非编码区",14200,"1.00=8/8",null,26090,"20p11.21","NM_001042472.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16685",17,17,1,{"$nulls":3},"A有","12308A","ABHD12","chr20:25281398","m.1559C>T(E13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,120,"非编码区",14200,"1.00=28/28",null,26090,"20p11.21","NM_001042472.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16687",24,24,1,{"$nulls":3},"A有","12308A","ABHD12","chr20:25282944","c.1068A>G(E12)","p.356,D>D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,120,"同义",13203,"1.00=39/39",null,26090,"20p11.21","NM_001042472.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22852",144,70,0.49,{"$nulls":3},"A有","12308A","ABHD12B","chr14:51370852","c.1003C>G(E12)","p.335,P>A","rs34800262",0.12,0.099,0.11,0.087,0.068,0.083,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD12B",0.79,180,"错义",12210,"0.44=108/245",null,145447,"14q22.1","NM_001206673.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28531",26,26,1,{"$nulls":3},"A有","12308A","ABHD15","chr17:27889578","m.1466T>C(E2)","非编码区","rs539307",0.74,0.95,0.94,0.95,0.9,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD15",0.51,16,"非编码区",14200,"1.00=41/41",null,116236,"17q11.2","NM_198147.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28532",11,11,1,{"$nulls":3},"A有","12308A","ABHD15","chr17:27889986","c.1000T>C(E2)","p.334,T>A","rs542939",0.77,0.89,0.88,0.9,0.8,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD15",0.51,16,"错义",12220,"1.00=17/17",null,116236,"17q11.2","NM_198147.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24461",15,15,1,{"$nulls":3},"A有","12308A","ABHD2","chr15:89744004","m.7546C>T(E15)","非编码区","rs7179900",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD2",1,130,"非编码区",14200,"0.94=30/32",null,11057,"15q26.1","NM_007011.7","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24460",86,86,1,{"$nulls":3},"A有","12308A","ABHD2","chr15:89744476","m.8018G>T(E15)","非编码区","rs6416547",0.91,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD2",1,130,"非编码区",14200,"1.00=136/136",null,11057,"15q26.1","NM_007011.7","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1754",6,6,1,{"$nulls":3},"A有","12308A","ABI3","chr17:47297297","c.608T>C(E5)","p.203,F>S","rs616338",1,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABI3",1,34,"错义",12230,"1.00=10/10",null,51225,"17q21.3","NM_001135186.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5364",84,42,0.5,{"$nulls":3},"A有","12308A","ABI3BP","chr3:100617680","c.408C>T(E4)","p.136,S>S","rs2245370",0.73,0.92,0.95,0.89,0.88,0.92,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3BP",1,260,"同义",13203,"0.52=70/134",null,25890,"3q12","NM_015429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5365",62,33,0.53,{"$nulls":3},"A有","12308A","ABI3BP","chr3:100712249","c.1T>C(E1)","p.1,M>V","rs3732895",0.24,0.44,0.41,0.48,0.49,0.45,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,2,0,"ABI3BP",1,260,"错义",18220,"0.55=60/110",null,25890,"3q12","NM_015429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2611",8,8,1,{"$nulls":3},"A有","12308A","ABL1","chr9:133710819-133710820","UTR:插入C","非编码区","rs67372388",1,1,1,1,0.8,1,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,2,0,"ABL1",1,66,"非编码区",2600,"1.00=8/8",null,25,"9q34.1","NM_005157.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2609",14,7,0.5,{"$nulls":3},"A有","12308A","ABL1","chr9:133761001","c.3324A>G(E11)","p.1108,P>P","rs1056171",0.65,0.61,0.61,0.61,0.54,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABL1",1,66,"同义",13203,"0.50=11/22",null,25,"9q34.1","NM_005157.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19857",27,11,0.41,{"$nulls":3},"A有","12308A","ABLIM1","chr10:116307504","c.525A>G(E5)","p.175,N>N","rs2247528",0.78,0.66,0.63,0.69,0.63,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABLIM1",1,160,"同义",13203,"0.39=16/41",null,3983,"10q25","NM_001003407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5718",46,19,0.41,{"$nulls":3},"A有","12308A","ABLIM2","chr4:8009759","m.1566G>A(E14)","非编码区","rs17180256",0.77,0.78,0.78,0.78,null,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",0.99,75,"非编码区",14200,"0.39=32/83",null,84448,"4p16.1","NM_001130088.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5717",32,15,0.47,{"$nulls":3},"A有","12308A","ABLIM2","chr4:8031471","c.1080A>G(E11)","p.360,C>C","rs2385904",0.73,0.78,0.79,0.77,0.73,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",0.99,75,"同义",13203,"0.45=30/67",null,84448,"4p16.1","NM_001130083.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5719",50,50,1,{"$nulls":3},"A有","12308A","ABLIM2","chr4:8062689","IVS7+5T>C","剪切位点","rs6811028",0.92,1,1,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",0.99,75,"剪切位点",16202,"1.00=90/90",null,84448,"4p16.1","NM_001130083.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5716",50,50,1,{"$nulls":3},"A有","12308A","ABLIM2","chr4:8062690","IVS7+4G>A","剪切位点","rs10938683",0.7,0.94,0.96,0.92,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",0.99,75,"剪切位点",16202,"1.00=90/90",null,84448,"4p16.1","NM_001130083.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5715",63,34,0.54,{"$nulls":3},"A有","12308A","ABLIM2","chr4:8108221","c.154C>T(E2)","p.52,A>T","rs374593252",{"$nulls":4},0.0034,0.0046,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ABLIM2",0.99,75,"错义",12310,"0.52=56/108",null,84448,"4p16.1","NM_001130086.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20617",4,4,1,{"$nulls":3},"A有","12308A","ABO","chr9:136131651","c.466G>A(E7)","p.156,R>W","rs1053878",0.13,0.18,0.2,0.15,0.17,0.19,"纯合","无关","有rs号，MAF>=5%",19169360,"ABO血型系统",null,616093,5,1,7,1,"ABO",0.97,42,"错义",12230,"1.00=7/7",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20622",34,18,0.53,{"$nulls":3},"A有","12308A","ABO","chr9:136132873","c.296T>C(E6)","p.99,H>R","rs8176720",0.45,0.45,0.44,0.46,0.46,0.45,"杂合","无关","有rs号，MAF>=5%","18940312;19169360;19729612;24094242","ABO血型系统",null,616093,5,2,7,1,"ABO",0.97,42,"错义",12230,"0.57=29/51",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20623",42,9,0.21,{"$nulls":3},"A有","12308A","ABO","chr9:136132908-136132909","c.261(E6)至c.260(E6):插入C","插入移码","rs72238104",0.34,0.41,0.42,0.39,0.32,0.38,"杂合","未知","有rs号，MAF>=5%的移码突变",null,"ABO血型系统",null,616093,4,2,7,1,"ABO",0.97,42,"插入移码",2120,"0.24=11/45",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20621",104,52,0.5,{"$nulls":3},"A有","12308A","ABO","chr9:136133506","c.220A>G(E5)","p.74,S>P","rs512770",0.73,0.75,0.74,0.77,0.73,0.73,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,7,1,"ABO",0.97,42,"错义",12230,"0.52=90/174",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20616",23,9,0.39,{"$nulls":3},"A有","12308A","ABO","chr9:136135237","c.189A>G(E4)","p.63,H>H","rs549443",0.73,0.75,0.74,0.77,0.68,0.73,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,7,1,"ABO",0.97,42,"同义",13203,"0.38=13/34",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20618",23,9,0.39,{"$nulls":3},"A有","12308A","ABO","chr9:136135238","c.188T>C(E4)","p.63,H>R","rs549446",0.71,0.75,0.74,0.77,0.68,0.73,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,7,1,"ABO",0.97,42,"错义",12230,"0.38=13/34",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20620",42,16,0.38,{"$nulls":3},"A有","12308A","ABO","chr9:136136770","c.106A>C(E3)","p.36,F>V","rs688976",0.72,0.75,0.74,0.77,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,7,1,"ABO",0.97,42,"错义",12230,"0.38=31/81",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30925",41,16,0.39,{"$nulls":3},"A有","12308A","ABP1","chr7:150554887","c.1329G>A(E2)","p.443,A>A","rs2071514",0.3,0.45,0.43,0.48,0.47,0.47,"杂合","无关","有rs号，MAF>=5%",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,46,"同义",13203,"0.40=28/70",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30923",30,15,0.5,{"$nulls":3},"A有","12308A","ABP1","chr7:150555915","c.1635A>G(E3)","p.545,P>P","rs10893",0.46,0.49,0.49,0.5,0.49,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,46,"同义",13203,"0.50=25/50",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30919",32,14,0.44,{"$nulls":3},"A有","12308A","ABP1","chr7:150556002","c.1722T>C(E3)","p.574,P>P","rs1049748",0.52,0.57,0.54,0.6,0.54,0.59,"杂合","无关","有rs号，MAF>=5%",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,46,"同义",13203,"0.38=18/48",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30921",19,19,1,{"$nulls":3},"A有","12308A","ABP1","chr7:150556055","c.1775C>G(E3)","p.592,T>R","rs6943147",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,46,"错义",12220,"1.00=34/34",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30922",19,19,1,{"$nulls":3},"A有","12308A","ABP1","chr7:150556056","c.1776G>C(E3)","p.592,T>T","rs6943420",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,46,"同义",13203,"1.00=34/34",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30920",49,31,0.63,{"$nulls":3},"A有","12308A","ABP1","chr7:150557622","c.1890G>A(E4)","p.630,S>S","rs12179",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,46,"同义",13203,"0.62=51/82",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30924",56,36,0.64,{"$nulls":3},"A有","12308A","ABP1","chr7:150557665","c.1933C>G(E4)","p.645,H>D","rs1049793",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%","19450133;19670078",{"$nulls":3},5,null,7,0,"ABP1",1,46,"错义",12220,"0.59=52/88",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v414",23,23,1,{"$nulls":3},"A有","12308A","ABR","chr17:970413","c.975C>T(E9)","p.325,E>E","rs2262150",0.9,0.97,0.97,0.97,0.92,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABR",0.95,59,"同义",13203,"1.00=38/38",null,29,"17p13.3","NM_001092.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23",38,18,0.47,{"$nulls":3},"A有","12308A","ABRA","chr8:107782065","c.354A>G(E1)","p.118,Y>Y","rs13259080",0.19,0.38,0.37,0.39,0.37,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABRA",1,71,"同义",13203,"0.44=24/54",null,137735,"8q23.1","NM_139166.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24",8,3,0.38,{"$nulls":3},"A有","12308A","ABRA","chr8:107782395","c.24G>A(E1)","p.8,S>S","rs11996466",0.44,0.52,0.52,0.53,0.43,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABRA",1,71,"同义",13203,"0.36=4/11",null,137735,"8q23.1","NM_139166.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25600",41,41,1,{"$nulls":3},"A有","12308A","ABT1","chr6:26597333","c.123A>G(E1)","p.41,K>K","rs3800302",0.71,0.76,0.82,0.71,0.75,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABT1",1,37,"同义",13203,"1.00=68/68",null,29777,"6p22.2","NM_013375.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25601",33,33,1,{"$nulls":3},"A有","12308A","ABT1","chr6:26598188","c.288A>G(E2)","p.96,G>G","rs3800303",0.52,0.67,0.72,0.61,0.59,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABT1",1,37,"同义",13203,"0.98=53/54",null,29777,"6p22.2","NM_013375.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21107",11,7,0.64,{"$nulls":3},"A有","12308A","ABTB2","chr11:34378381","c.750G>C(E1)","p.250,H>Q","rs1925368",0.18,0.38,0.41,0.34,0.34,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABTB2",0.84,28,"错义",12220,"0.61=11/18",null,25841,"11p13","NM_145804.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22744",65,33,0.51,{"$nulls":3},"A有","12308A","ACAA1","chr3:38170810","c.516C>G(E6)","p.172,E>D","rs156265",0.14,0.34,0.3,0.38,0.36,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACAA1",0.87,71,"错义",12220,"0.51=58/114",null,30,"3p22.2","NM_001607.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4247",103,102,0.99,{"$nulls":3},"A有","12308A","ACACA","chr17:35478362","c.6189T>C(E50)","p.2063,T>T","rs1470452",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"乙酰CoA羧化酶缺陷症","AR",613933,5,1,2,1,"ACACA",1,220,"同义",13203,"0.99=183/184",null,31,"17q21","NM_198834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4246",165,75,0.45,{"$nulls":3},"A有","12308A","ACACA","chr17:35609866","c.1923C>T(E15)","p.641,Q>Q","rs2229416",0.22,0.5,0.46,0.54,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",19846279,"乙酰CoA羧化酶缺陷症","AR",613933,5,3,2,1,"ACACA",1,220,"同义",13203,"0.51=153/301",null,31,"17q21","NM_198834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27036",20,11,0.55,{"$nulls":3},"A有","12308A","ACACB","chr12:109577735","c.525C>T(E1)","p.175,S>S","rs2878960",0.4,0.26,0.23,0.3,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACACB",1,100,"同义",13203,"0.44=12/27",null,32,"12q24.11","NM_001093.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27033",36,18,0.5,{"$nulls":3},"A有","12308A","ACACB","chr12:109617865","c.1791T>C(E10)","p.597,D>D","rs11065772",0.68,0.74,0.7,0.78,0.77,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACACB",1,100,"同义",13203,"0.53=30/57",null,32,"12q24.11","NM_001093.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27034",45,25,0.56,{"$nulls":3},"A有","12308A","ACACB","chr12:109644671","IVS19+10C>T","非编码区","rs17848815",0.032,0.091,0.067,0.12,null,0.099,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"ACACB",1,100,"非编码区",16103,"0.53=37/70",null,32,"12q24.11","NM_001093.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27035",61,33,0.54,{"$nulls":3},"A有","12308A","ACACB","chr12:109696838","c.6421G>A(E46)","p.2141,V>I","rs2075260",0.74,0.69,0.69,0.68,0.71,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACACB",1,100,"错义",12220,"0.52=63/122",null,32,"12q24.11","NM_001093.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22849",31,31,1,{"$nulls":3},"A有","12308A","ACAD10","chr12:112130708","IVS2+8A>G","非编码区","rs7132509",0.2,0.59,0.61,0.57,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,120,"非编码区",16203,"1.00=47/47",null,80724,"12q24.12","NM_001136538.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22850",4,4,1,{"$nulls":3},"A有","12308A","ACAD10","chr12:112191641","c.2976G>A(E20)","p.992,A>A","rs2074055",0.2,0.59,0.61,0.57,0.52,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,120,"同义",13203,"1.00=5/5",null,80724,"12q24.12","NM_001136538.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v914",16,7,0.44,{"$nulls":3},"A有","12308A","ACAD11","chr3:132277686","m.2852T>C(E20)","非编码区","rs76584571",0.042,0.094,0.1,0.083,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ACAD11",1,270,"非编码区",14100,"0.44=8/18",null,84129,"3q22.1","NM_032169.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v913",119,60,0.5,{"$nulls":3},"A有","12308A","ACAD11","chr3:132337477","IVS11+1C>A","剪切位点","rs41272317",0.042,0.099,0.1,0.092,0.066,0.067,"杂合","较高","突变在经典剪切位点上",{"$nulls":4},1,null,3,0,"ACAD11",1,270,"剪切位点",16104,"0.45=92/203",null,84129,"3q22.1","NM_032169.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v912",144,144,1,{"$nulls":3},"A有","12308A","ACAD11","chr3:132360883","c.470C>T(E4)","p.157,R>H","rs821572",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACAD11",1,270,"错义",12230,"1.00=258/258",null,84129,"3q22.1","NM_032169.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30001",57,23,0.4,{"$nulls":3},"A有","12308A","ACAD9","chr3:128614185","c.379A>C(E4)","p.127,R>R","rs1680778",0.54,0.65,0.67,0.64,0.58,0.66,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,3,1,"ACAD9",1,110,"同义",13203,"0.36=36/99",null,28976,"3q21.3","NM_014049.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30003",25,13,0.52,{"$nulls":3},"A有","12308A","ACAD9","chr3:128627021","IVS12-7A>G","剪切位点","rs1683787",0.52,0.64,0.66,0.62,0.6,0.65,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,3,1,"ACAD9",1,110,"剪切位点",16202,"0.53=20/38",null,28976,"3q21.3","NM_014049.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30004",13,9,0.69,{"$nulls":3},"A有","12308A","ACAD9","chr3:128627933","c.1476C>T(E14)","p.492,P>P","rs876755",0.31,0.58,0.61,0.54,0.5,0.58,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,3,1,"ACAD9",1,110,"同义",13203,"0.75=15/20",null,28976,"3q21.3","NM_014049.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13794",7,4,0.57,{"$nulls":3},"A有","12308A","ACADS","chr12:121174899","c.321T>C(E3)","p.107,R>R","rs3914",0.59,0.57,0.54,0.59,0.45,0.57,"杂合","无关","有rs号，MAF>=5%",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,5,3,3,1,"ACADS",0.95,27,"同义",13203,"0.62=10/16",null,35,"12q24.31","NM_000017.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13793",34,15,0.44,{"$nulls":3},"A有","12308A","ACADS","chr12:121175221","c.423G>A(E4)","p.141,T>T","rs2239686",0.021,0.079,0.067,0.092,0.089,0.1,"杂合","未知","预测范围之外的同义突变",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,4,3,3,1,"ACADS",0.95,27,"同义",13103,"0.47=31/66",null,35,"12q24.31","NM_000017.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13795",4,3,0.75,{"$nulls":3},"A有","12308A","ACADS","chr12:121176679","c.990C>T(E8)","p.330,R>R","rs3915",null,0.57,0.54,0.59,0.46,0.53,"杂合","未知","预测范围之外的同义突变",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,4,3,3,1,"ACADS",0.95,27,"同义",13303,"0.80=4/5",null,35,"12q24.31","NM_000017.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14213",124,64,0.52,{"$nulls":3},"A有","12308A","ACADSB","chr10:124800853","c.639C>T(E5)","p.213,H>H","rs1140591",0.23,0.12,0.11,0.12,0.15,0.15,"杂合","无关","有rs号，MAF>=5%",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,3,1,1,"ACADSB",0.97,220,"同义",13203,"0.51=106/207",null,36,"10q26.13","NM_001609.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17217",31,31,1,{"$nulls":3},"A有","12308A","ACADVL","chr17:7127718","IVS16+6T>C","剪切位点","rs17671352",0.52,0.47,0.46,0.48,0.52,0.48,"纯合","无关","有rs号，MAF>=5%",null,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,5,1,1,1,"ACADVL",0.95,54,"剪切位点",16201,"1.00=44/44",null,37,"17p13.1","NM_000018.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9742",49,25,0.51,{"$nulls":3},"A有","12308A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"同义",13203,"0.54=44/81",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9742",49,25,0.51,{"$nulls":3},"A有","12308A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"同义",13203,"0.54=44/81",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9742",49,25,0.51,{"$nulls":3},"A有","12308A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,11,3,"ACAN",1,74,"同义",13203,"0.54=44/81",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9746",8,8,1,{"$nulls":3},"A有","12308A","ACAN","chr15:89392745","c.1809T>C(E10)","p.603,A>A","rs1568116",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"同义",13203,"1.00=15/15",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9746",8,8,1,{"$nulls":3},"A有","12308A","ACAN","chr15:89392745","c.1809T>C(E10)","p.603,A>A","rs1568116",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"同义",13203,"1.00=15/15",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9746",8,8,1,{"$nulls":3},"A有","12308A","ACAN","chr15:89392745","c.1809T>C(E10)","p.603,A>A","rs1568116",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,11,3,"ACAN",1,74,"同义",13203,"1.00=15/15",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9738",83,42,0.51,{"$nulls":3},"A有","12308A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"杂合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,11,3,"ACAN",1,74,"同义",13303,"0.49=63/128",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9738",83,42,0.51,{"$nulls":3},"A有","12308A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"杂合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,11,3,"ACAN",1,74,"同义",13303,"0.49=63/128",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9738",83,42,0.51,{"$nulls":3},"A有","12308A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"杂合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,2,11,3,"ACAN",1,74,"同义",13303,"0.49=63/128",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9741",39,23,0.59,{"$nulls":3},"A有","12308A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"错义",12210,"0.58=28/48",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9741",39,23,0.59,{"$nulls":3},"A有","12308A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"错义",12210,"0.58=28/48",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9741",39,23,0.59,{"$nulls":3},"A有","12308A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,11,3,"ACAN",1,74,"错义",12210,"0.58=28/48",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9749",83,44,0.53,{"$nulls":3},"A有","12308A","ACAN","chr15:89400571","c.4755C>T(E12)","p.1585,D>D","rs78523879",0.01,0.012,0,0.024,0.021,0.024,"杂合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,11,3,"ACAN",1,74,"同义",13103,"0.55=75/136",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9749",83,44,0.53,{"$nulls":3},"A有","12308A","ACAN","chr15:89400571","c.4755C>T(E12)","p.1585,D>D","rs78523879",0.01,0.012,0,0.024,0.021,0.024,"杂合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,11,3,"ACAN",1,74,"同义",13103,"0.55=75/136",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9749",83,44,0.53,{"$nulls":3},"A有","12308A","ACAN","chr15:89400571","c.4755C>T(E12)","p.1585,D>D","rs78523879",0.01,0.012,0,0.024,0.021,0.024,"杂合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,2,11,3,"ACAN",1,74,"同义",13103,"0.55=75/136",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9740",43,23,0.53,{"$nulls":3},"A有","12308A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"错义",12220,"0.53=35/66",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9740",43,23,0.53,{"$nulls":3},"A有","12308A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"错义",12220,"0.53=35/66",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9740",43,23,0.53,{"$nulls":3},"A有","12308A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,11,3,"ACAN",1,74,"错义",12220,"0.53=35/66",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9748",40,20,0.5,{"$nulls":3},"A有","12308A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"同义",13203,"0.48=29/61",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9748",40,20,0.5,{"$nulls":3},"A有","12308A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"同义",13203,"0.48=29/61",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9748",40,20,0.5,{"$nulls":3},"A有","12308A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,11,3,"ACAN",1,74,"同义",13203,"0.48=29/61",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9739",43,21,0.49,{"$nulls":3},"A有","12308A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"错义",12220,"0.54=38/71",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9739",43,21,0.49,{"$nulls":3},"A有","12308A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"错义",12220,"0.54=38/71",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9739",43,21,0.49,{"$nulls":3},"A有","12308A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,11,3,"ACAN",1,74,"错义",12220,"0.54=38/71",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9745",25,17,0.68,{"$nulls":3},"A有","12308A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"杂合","无关","有rs号，MAF>=5%",19180518,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"同义",13203,"0.73=24/33",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9745",25,17,0.68,{"$nulls":3},"A有","12308A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"杂合","无关","有rs号，MAF>=5%",19180518,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"同义",13203,"0.73=24/33",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9745",25,17,0.68,{"$nulls":3},"A有","12308A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"杂合","无关","有rs号，MAF>=5%",19180518,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,11,3,"ACAN",1,74,"同义",13203,"0.73=24/33",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9743",16,5,0.31,{"$nulls":3},"A有","12308A","ACAN","chr15:89417238","c.7499A>G(E17)","p.2500,Q>R","rs1126823",0.41,0.26,0.27,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"错义",12220,"0.26=5/19",null,176,"15q26.1","NM_013227.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9743",16,5,0.31,{"$nulls":3},"A有","12308A","ACAN","chr15:89417238","c.7499A>G(E17)","p.2500,Q>R","rs1126823",0.41,0.26,0.27,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"错义",12220,"0.26=5/19",null,176,"15q26.1","NM_013227.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9743",16,5,0.31,{"$nulls":3},"A有","12308A","ACAN","chr15:89417238","c.7499A>G(E17)","p.2500,Q>R","rs1126823",0.41,0.26,0.27,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,11,3,"ACAN",1,74,"错义",12220,"0.26=5/19",null,176,"15q26.1","NM_013227.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9744",22,8,0.36,{"$nulls":3},"A有","12308A","ACAN","chr15:89417629","IVS15-7G>A","剪切位点","rs2280465",0.18,0.11,0.1,0.12,0.091,0.19,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,11,3,"ACAN",1,74,"剪切位点",16202,"0.38=11/29",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9744",22,8,0.36,{"$nulls":3},"A有","12308A","ACAN","chr15:89417629","IVS15-7G>A","剪切位点","rs2280465",0.18,0.11,0.1,0.12,0.091,0.19,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,11,3,"ACAN",1,74,"剪切位点",16202,"0.38=11/29",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9744",22,8,0.36,{"$nulls":3},"A有","12308A","ACAN","chr15:89417629","IVS15-7G>A","剪切位点","rs2280465",0.18,0.11,0.1,0.12,0.091,0.19,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,11,3,"ACAN",1,74,"剪切位点",16202,"0.38=11/29",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22039",49,24,0.49,{"$nulls":3},"A有","12308A","ACAP1","chr17:7254315","c.2119G>A(E21)","p.707,A>T","rs35985803",0.043,0.031,0.043,0.019,0.021,0.034,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ACAP1",1,59,"错义",12120,"0.47=44/94",null,9744,"17p13.1","NM_014716.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3077",44,44,1,{"$nulls":3},"A有","12308A","ACAP2","chr3:194999996","m.2639T>A(E23)","非编码区","rs7610022",0.82,0.96,0.96,0.96,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACAP2",1,280,"非编码区",14200,"1.00=57/57",null,23527,"3q29","NM_012287.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17188",12,6,0.5,{"$nulls":3},"A有","12308A","ACAP3","chr1:1231656","c.1342G>A(E16)","p.448,L>L","rs1749951",0.05,0.062,0.057,0.068,0.089,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAP3",0.8,14,"同义",13203,"0.65=15/23",null,116983,"-","NM_030649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17187",19,19,1,{"$nulls":3},"A有","12308A","ACAP3","chr1:1233941","IVS11+6T>C","剪切位点","rs1739855",0.5,0.75,0.8,0.7,null,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAP3",0.8,14,"剪切位点",16202,"1.00=22/22",null,116983,"-","NM_030649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30331",128,55,0.43,{"$nulls":3},"A有","12308A","ACAT2","chr6:160198359","c.783C>T(E7)","p.261,V>V","rs3464",0.26,0.43,0.42,0.43,0.42,0.39,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,3,1,"ACAT2",1,160,"同义",13203,"0.42=90/214",null,39,"6q25.3","NM_005891.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30334",103,43,0.42,{"$nulls":3},"A有","12308A","ACAT2","chr6:160199687","IVS8-4T>C","剪切位点","rs15982",0.68,0.57,0.57,0.56,null,0.58,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,3,1,"ACAT2",1,160,"剪切位点",16202,"0.43=69/161",null,39,"6q25.3","NM_005891.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30333",87,39,0.45,{"$nulls":3},"A有","12308A","ACAT2","chr6:160200026","m.1490A>C(E9)","非编码区","rs4832",0.26,0.43,0.42,0.43,null,0.4,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,3,1,"ACAT2",1,160,"非编码区",14200,"0.46=63/136",null,39,"6q25.3","NM_005891.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4451",148,86,0.58,{"$nulls":3},"A有","12308A","ACBD5","chr10:27508758","c.414T>C(E6)","p.138,P>P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACBD5",1,210,"同义",13203,"0.57=147/260",null,91452,"10p12.1","NM_001042473.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4454",13,12,0.92,{"$nulls":3},"A有","12308A","ACBD5","chr10:27529549","m.260C>A(E1)","非编码区","rs2797078",0.68,0.51,0.48,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACBD5",1,210,"非编码区",14200,"0.88=21/24",null,91452,"10p12.1","NM_001271512.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4453",15,15,1,{"$nulls":3},"A有","12308A","ACBD5","chr10:27529565","m.244T>C(E1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACBD5",1,210,"非编码区",14200,"1.00=26/26",null,91452,"10p12.1","NM_001271512.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4900",100,100,1,{"$nulls":3},"A有","12308A","ACCS","chr11:44096238","IVS5+7G>A","非编码区","rs178521",0.77,0.94,0.95,0.94,0.94,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACCS",1,78,"非编码区",16203,"1.00=184/184",null,84680,"11p11","NM_001127219.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4901",66,31,0.47,{"$nulls":3},"A有","12308A","ACCS","chr11:44101118","c.871C>T(E10)","p.291,L>L","rs7950395",0.11,0.089,0.12,0.058,0.076,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACCS",1,78,"同义",13203,"0.45=44/98",null,84680,"11p11","NM_001127219.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4899",35,18,0.51,{"$nulls":3},"A有","12308A","ACCS","chr11:44104981","c.1262C>T(E14)","p.421,P>L","rs3107275",0.4,0.53,0.54,0.51,0.49,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACCS",1,78,"错义",12210,"0.56=31/55",null,84680,"11p11","NM_001127219.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27509",31,17,0.55,{"$nulls":3},"A有","12308A","ACCSL","chr11:44069719","c.133G>A(E1)","p.45,V>M","rs11037840",0.014,0.031,0.033,0.029,0.035,0.031,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACCSL",1,120,"错义",12120,"0.53=23/43",null,390110,"11p11.2","NM_001031854.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27511",41,14,0.34,{"$nulls":3},"A有","12308A","ACCSL","chr11:44073200","IVS4-3C>T","剪切位点","rs11037843",0.013,0.026,0.019,0.034,0.033,0.034,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"ACCSL",1,120,"剪切位点",16102,"0.37=28/75",null,390110,"11p11.2","NM_001031854.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27510",60,28,0.47,{"$nulls":3},"A有","12308A","ACCSL","chr11:44074303","c.864G>A(E6)","p.288,E>E","rs77666758",0.016,0.029,0.019,0.039,0.033,0.035,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ACCSL",1,120,"同义",13103,"0.39=39/99",null,390110,"11p11.2","NM_001031854.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27508",65,65,1,{"$nulls":3},"A有","12308A","ACCSL","chr11:44080210","c.1585T>C(E13)","p.529,C>R","rs2074051",0.79,0.87,0.87,0.88,0.86,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACCSL",1,120,"错义",12220,"1.00=113/113",null,390110,"11p11.2","NM_001031854.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22071",36,35,0.97,{"$nulls":3},"A有","12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.98=63/64",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22071",36,35,0.97,{"$nulls":3},"A有","12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","肾小管发育不良","AR",267430,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.98=63/64",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22071",36,35,0.97,{"$nulls":3},"A有","12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","心肌梗塞,易感1型",null,608446,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.98=63/64",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22071",36,35,0.97,{"$nulls":3},"A有","12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","糖尿病微血管并发症,易感3型",null,612624,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.98=63/64",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22071",36,35,0.97,{"$nulls":3},"A有","12308A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","脑出血、中风（易感）",null,614519,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.98=63/64",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22070",13,13,1,{"$nulls":3},"A有","12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=19/19",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22070",13,13,1,{"$nulls":3},"A有","12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","肾小管发育不良","AR",267430,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=19/19",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22070",13,13,1,{"$nulls":3},"A有","12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","心肌梗塞,易感1型",null,608446,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=19/19",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22070",13,13,1,{"$nulls":3},"A有","12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","糖尿病微血管并发症,易感3型",null,612624,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=19/19",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22070",13,13,1,{"$nulls":3},"A有","12308A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","脑出血、中风（易感）",null,614519,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=19/19",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22068",20,20,1,{"$nulls":3},"A有","12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=26/26",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22068",20,20,1,{"$nulls":3},"A有","12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","肾小管发育不良","AR",267430,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=26/26",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22068",20,20,1,{"$nulls":3},"A有","12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","心肌梗塞,易感1型",null,608446,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=26/26",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22068",20,20,1,{"$nulls":3},"A有","12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","糖尿病微血管并发症,易感3型",null,612624,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=26/26",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22068",20,20,1,{"$nulls":3},"A有","12308A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","脑出血、中风（易感）",null,614519,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=26/26",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22069",67,66,0.99,{"$nulls":3},"A有","12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.99=103/104",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22069",67,66,0.99,{"$nulls":3},"A有","12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","肾小管发育不良","AR",267430,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.99=103/104",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22069",67,66,0.99,{"$nulls":3},"A有","12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","心肌梗塞,易感1型",null,608446,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.99=103/104",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22069",67,66,0.99,{"$nulls":3},"A有","12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","糖尿病微血管并发症,易感3型",null,612624,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.99=103/104",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22069",67,66,0.99,{"$nulls":3},"A有","12308A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","脑出血、中风（易感）",null,614519,5,1,6,5,"ACE",0.92,52,"同义",13203,"0.99=103/104",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22067",53,24,0.45,{"$nulls":3},"A有","12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,4,1,6,5,"ACE",0.92,52,"同义",13103,"0.46=38/83",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22067",53,24,0.45,{"$nulls":3},"A有","12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"肾小管发育不良","AR",267430,4,3,6,5,"ACE",0.92,52,"同义",13103,"0.46=38/83",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22067",53,24,0.45,{"$nulls":3},"A有","12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"心肌梗塞,易感1型",null,608446,4,2,6,5,"ACE",0.92,52,"同义",13103,"0.46=38/83",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22067",53,24,0.45,{"$nulls":3},"A有","12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"糖尿病微血管并发症,易感3型",null,612624,4,2,6,5,"ACE",0.92,52,"同义",13103,"0.46=38/83",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22067",53,24,0.45,{"$nulls":3},"A有","12308A","ACE","chr17:61571814","c.3363T>C(E22)","p.1121,S>S","rs200201337",0.0006,0.0072,0.0095,0.0049,0.0058,0.007,"杂合","未知","预测范围之外的同义突变",null,"脑出血、中风（易感）",null,614519,4,2,6,5,"ACE",0.92,52,"同义",13103,"0.46=38/83",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22065",16,16,1,{"$nulls":3},"A有","12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=29/29",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22065",16,16,1,{"$nulls":3},"A有","12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","肾小管发育不良","AR",267430,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=29/29",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22065",16,16,1,{"$nulls":3},"A有","12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","心肌梗塞,易感1型",null,608446,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=29/29",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22065",16,16,1,{"$nulls":3},"A有","12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","糖尿病微血管并发症,易感3型",null,612624,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=29/29",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22065",16,16,1,{"$nulls":3},"A有","12308A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","脑出血、中风（易感）",null,614519,5,1,6,5,"ACE",0.92,52,"同义",13203,"1.00=29/29",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25361",116,115,0.99,{"$nulls":3},"A有","12308A","ACE2","chrX:15610348","IVS4+4C>T","剪切位点","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ACE2",1,170,"剪切位点",16302,"1.00=203/204",null,59272,"Xp22","NM_021804.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27601",10,10,1,{"$nulls":3},"A有","12308A","ACER1","chr19:6312290","c.220T>C(E3)","p.74,M>V","rs72981971",0.16,0.37,0.36,0.39,0.33,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACER1",1,53,"错义",12220,"1.00=16/16",null,125981,"19p13.3","NM_133492.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27600",13,5,0.38,{"$nulls":3},"A有","12308A","ACER1","chr19:6333462","IVS1+8G>A","非编码区","rs76964030",0.053,0.017,0.014,0.019,null,0.042,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACER1",1,53,"非编码区",16203,"0.32=7/22",null,125981,"19p13.3","NM_133492.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1857",216,216,1,{"$nulls":3},"A有","12308A","ACER3","chr11:76637651","c.154G>A(E2)","p.52,V>I","rs4379869",0.63,0.6,0.57,0.63,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACER3",1,270,"错义",12220,"1.00=416/417",null,55331,"11q13.5","NM_018367.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1859",200,199,0.99,{"$nulls":3},"A有","12308A","ACER3","chr11:76637680","c.183G>A(E2)","p.61,K>K","rs4479014",0.5,0.6,0.57,0.63,0.63,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACER3",1,270,"同义",13203,"0.99=395/397",null,55331,"11q13.5","NM_018367.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1858",143,143,1,{"$nulls":3},"A有","12308A","ACER3","chr11:76701606","c.426G>A(E6)","p.142,P>P","rs3740767",0.53,0.66,0.64,0.67,0.67,0.67,"纯合","无关","有rs号，MAF>=5%",19586928,{"$nulls":3},5,null,3,0,"ACER3",1,270,"同义",13203,"1.00=233/233",null,55331,"11q13.5","NM_018367.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30763",32,18,0.56,{"$nulls":3},"A有","12308A","ACIN1","chr14:23530622","c.3444T>C(E17)","p.1148,S>S","rs60168438",0.25,0.26,0.27,0.26,0.3,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"同义",13203,"0.50=23/46",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30766",41,26,0.63,{"$nulls":3},"A有","12308A","ACIN1","chr14:23548783-23548784","c.1935(E6)至c.1934(E6):插入GAACGT","插入非移码","rs148403158",0.39,0.43,0.45,0.41,0.048,0.43,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ACIN1",1,98,"插入非移码",2222,"0.62=28/45",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30765",41,15,0.37,{"$nulls":3},"A有","12308A","ACIN1","chr14:23549285","c.1433G>A(E6)","p.478,S>F","rs3751501",0.052,0.13,0.13,0.12,0.099,0.12,"杂合","无关","有rs号，MAF>=5%",19139070,{"$nulls":3},5,null,8,0,"ACIN1",1,98,"错义",12220,"0.40=27/67",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30762",40,18,0.45,{"$nulls":3},"A有","12308A","ACIN1","chr14:23549319","c.1399A>G(E6)","p.467,S>P","rs1885097",0.43,0.39,0.4,0.38,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"错义",12220,"0.42=28/66",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30761",32,32,1,{"$nulls":3},"A有","12308A","ACIN1","chr14:23549379","c.1339C>G(E6)","p.447,A>P","rs941719",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"错义",12230,"1.00=48/48",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30764",33,18,0.55,{"$nulls":3},"A有","12308A","ACIN1","chr14:23549383","c.1335G>T(E6)","p.445,A>A","rs45510791",0.052,0.13,0.13,0.12,0.1,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"同义",13203,"0.51=25/49",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30760",135,135,1,{"$nulls":3},"A有","12308A","ACIN1","chr14:23549785","c.933T>C(E6)","p.311,I>M","rs3811182",0.5,0.46,0.49,0.44,0.45,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,98,"错义",12220,"1.00=233/233",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30767",109,45,0.41,{"$nulls":3},"A有","12308A","ACIN1","chr14:23549879-23549881","c.839(E6)至c.837(E6):缺失TCC","缺失非移码","rs3841035",0.11,0.2,0.21,0.18,0.0089,null,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ACIN1",1,98,"缺失非移码",2222,"0.39=48/122",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12308A(99)v17496",63,62,0.98,{"$nulls":3},"A有","12308A","ACLY","chr17:40024023","m.3509A>T(E29)","非编码区","rs7217218",0.92,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACLY",1,100,"非编码区",14200,"0.99=100/101",null,47,"17q21.2","NM_001096.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17497",55,55,1,{"$nulls":3},"A有","12308A","ACLY","chr17:40048613","c.1689A>G(E16)","p.563,H>H","rs8065502",0.9,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACLY",1,100,"同义",13203,"1.00=84/84",null,47,"17q21.2","NM_001096.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31042",8,5,0.62,{"$nulls":3},"A有","12308A","ACN9","chr7:96810729","m.1711G>A(E2)","非编码区","rs13475",0.56,0.52,0.51,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACN9",1,180,"非编码区",14200,"0.67=6/9",null,57001,"7q21.3","NM_020186.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13366",96,95,0.99,{"$nulls":3},"A有","12308A","ACO1","chr9:32425910","c.1263A>G(E11)","p.421,E>E","rs3780473",0.35,0.58,0.57,0.59,0.51,0.54,"纯合","无关","有rs号，MAF>=5%","18755042;20403199",{"$nulls":3},5,null,2,0,"ACO1",1,200,"同义",13203,"0.98=163/166",null,48,"9p21.1","NM_002197.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13365",22,22,1,{"$nulls":3},"A有","12308A","ACO1","chr9:32450187","m.2903T>C(E21)","非编码区","rs12985",0.4,0.54,0.53,0.54,null,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACO1",1,200,"非编码区",14200,"1.00=29/29",null,48,"9p21.1","NM_002197.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v906",12,6,0.5,{"$nulls":3},"A有","12308A","ACO2","chr22:41903813","c.192A>C(E3)","p.64,T>T","rs137831",0.42,0.6,0.62,0.57,0.46,0.55,"杂合","无关","有rs号，MAF>=5%",null,"婴儿大脑-视网膜退化症","AR",614559,5,3,1,1,"ACO2",1,67,"同义",13203,"0.40=8/20",null,50,"22q13.2","NM_001098.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2322",7,3,0.43,{"$nulls":3},"A有","12308A","ACOT11","chr1:55060224","IVS5-5G>A","剪切位点","rs1755591",0.2,0.16,0.16,0.16,null,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACOT11",0.98,46,"剪切位点",16202,"0.55=6/11",null,26027,"1p32.3","NM_015547.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2325",8,4,0.5,{"$nulls":3},"A有","12308A","ACOT11","chr1:55060251","c.494C>T(E6)","p.165,P>L","rs2304306",0.081,0.19,0.16,0.22,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACOT11",0.98,46,"错义",12210,"0.42=5/12",null,26027,"1p32.3","NM_015547.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2323",23,12,0.52,{"$nulls":3},"A有","12308A","ACOT11","chr1:55064980","c.776G>A(E8)","p.259,R>H","rs2304303",0.081,0.18,0.14,0.22,0.18,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACOT11",0.98,46,"错义",12220,"0.48=22/46",null,26027,"1p32.3","NM_015547.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2324",9,2,0.22,{"$nulls":3},"A有","12308A","ACOT11","chr1:55075062","m.2238C>T(E16)","非编码区","rs2289015",0.08,0.18,0.14,0.22,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACOT11",0.98,46,"非编码区",14200,"0.25=4/16",null,26027,"1p32.3","NM_147161.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2321",13,10,0.77,{"$nulls":3},"A有","12308A","ACOT11","chr1:55075993","m.3169G>A(E16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACOT11",0.98,46,"非编码区",14200,"0.77=10/13",null,26027,"1p32.3","NM_147161.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10270",8,7,0.88,{"$nulls":3},"A有","12308A","ACOT13","chr6:24667323","m.61C>T(E1)","非编码区","rs17243157",0.11,0.062,0.048,0.078,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,200,"非编码区",14200,"0.88=7/8",null,55856,"6p22.3","NM_001160094.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10271",81,80,0.99,{"$nulls":3},"A有","12308A","ACOT13","chr6:24687765","m.443A>G(E2)","非编码区","rs926529",0.8,0.87,0.88,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,200,"非编码区",14200,"0.98=108/110",null,55856,"6p22.3","NM_001160094.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v980",32,14,0.44,{"$nulls":3},"A有","12308A","ACOT2","chr14:74035960","c.16C>T(E1)","p.6,L>F","rs200541919",0.0004,0.0048,0.0048,0.0049,0.008,0.0037,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACOT2",0.85,91,"错义",12120,"0.41=21/51",null,10965,"14q24.3","NM_006821.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v982",7,5,0.71,{"$nulls":3},"A有","12308A","ACOT2","chr14:74036216","c.272A>G(E1)","p.91,E>G","rs56069624",0.036,0.034,0.043,0.024,0.031,0.037,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACOT2",0.85,91,"错义",12120,"0.62=5/8",null,10965,"14q24.3","NM_006821.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v983",27,26,0.96,{"$nulls":3},"A有","12308A","ACOT2","chr14:74041748","c.983A>G(E3)","p.328,H>R","rs149033118",{"$nulls":4},0.86,0.93,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ACOT2",0.85,91,"错义",12310,"0.93=26/28",null,10965,"14q24.3","NM_006821.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v981",129,37,0.29,{"$nulls":3},"A有","12308A","ACOT2","chr14:74042189","c.1424A>G(E3)","p.475,H>R","rs7494",{"$nulls":4},0.76,0.8,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACOT2",0.85,91,"错义",12320,"0.28=57/206",null,10965,"14q24.3","NM_006821.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23475",106,48,0.45,{"$nulls":3},"A有","12308A","ACOT4","chr14:74060487","c.539G>C(E2)","p.180,G>A","rs45522539",0.035,0.031,0.038,0.024,0.032,0.033,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ACOT4",0.9,86,"错义",12110,"0.45=82/183",null,122970,"14q24.3","NM_152331.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23474",69,69,1,{"$nulls":3},"A有","12308A","ACOT4","chr14:74061968","c.876T>C(E3)","p.292,I>I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT4",0.9,86,"同义",13203,"1.00=107/107",null,122970,"14q24.3","NM_152331.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10085",58,33,0.57,{"$nulls":3},"A有","12308A","ACOT6","chr14:74083846","m.299C>T(E1)","非编码区","rs12891009",0.46,0.65,0.64,0.66,0.64,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACOT6",1,150,"非编码区",14200,"0.55=48/87",null,641372,"14q24.3","NM_001037162.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12620",36,36,1,{"$nulls":3},"A有","12308A","ACOX1","chr17:73949540","c.822G>C(E7)","p.274,I>M","rs1135640",0.55,0.79,0.82,0.77,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,5,1,1,1,"ACOX1",1,150,"错义",12220,"1.00=46/46",null,51,"17q25.1","NM_001185039.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7687",20,13,0.65,{"$nulls":3},"A有","12308A","ACOX2","chr3:58512237","c.1302A>G(E10)","p.434,C>C","rs1127745",0.28,0.23,0.25,0.21,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,89,"同义",13203,"0.72=18/25",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7688",20,12,0.6,{"$nulls":3},"A有","12308A","ACOX2","chr3:58512375","c.1164T>C(E10)","p.388,A>A","rs1127743",0.16,0.24,0.26,0.22,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,89,"同义",13203,"0.61=20/33",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7686",32,32,1,{"$nulls":3},"A有","12308A","ACOX2","chr3:58520859","m.150A>G(E2)","非编码区","rs4681862",0.87,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,89,"非编码区",14200,"1.00=47/47",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17938",35,13,0.37,{"$nulls":3},"A有","12308A","ACOX3","chr4:8368604","m.2211C>T(E17)","非编码区","rs708244",0.27,0.31,0.31,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOX3",0.96,98,"非编码区",14200,"0.41=19/46",null,8310,"4p15.3","NM_001101667.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17939",27,17,0.63,{"$nulls":3},"A有","12308A","ACOX3","chr4:8375342","c.1842G>A(E16)","p.614,S>S","rs2280571",0.14,0.14,0.13,0.16,0.12,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOX3",0.96,98,"同义",13203,"0.64=27/42",null,8310,"4p15.3","NM_003501.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19145",123,60,0.49,{"$nulls":3},"A有","12308A","ACOXL","chr2:111598958","c.764C>T(E10)","p.255,T>M","rs1554005",0.18,0.15,0.17,0.13,0.14,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,140,"错义",12210,"0.48=102/212",null,55289,"2q13","NM_001142807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19147",8,5,0.62,{"$nulls":3},"A有","12308A","ACOXL","chr2:111691147","c.987G>A(E12)","p.329,A>A","rs3761711",0.066,0.19,0.18,0.2,0.15,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,140,"同义",13203,"0.61=11/18",null,55289,"2q13","NM_001142807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19146",136,67,0.49,{"$nulls":3},"A有","12308A","ACOXL","chr2:111850515","c.1514C>T(E17)","p.505,P>L","rs17041850",0.074,0.26,0.3,0.22,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,140,"错义",12210,"0.51=111/217",null,55289,"2q13","NM_001142807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3087",6,6,1,{"$nulls":3},"A有","12308A","ACP1","chr2:264895","m.27G>C(E1)","非编码区","rs4854300",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACP1",1,200,"非编码区",14200,"1.00=12/12",null,52,"2p25","NM_001040649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3089",65,32,0.49,{"$nulls":3},"A有","12308A","ACP1","chr2:272203","c.284C>T(E3)","p.95,T>I","rs11553746",0.24,0.24,0.24,0.24,0.25,0.23,"杂合","无关","有rs号，MAF>=5%",20011102,{"$nulls":3},5,null,3,0,"ACP1",1,200,"错义",12220,"0.44=41/93",null,52,"2p25","NM_001040649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3088",253,129,0.51,{"$nulls":3},"A有","12308A","ACP1","chr2:277003","c.317A>G(E5)","p.106,Q>R","rs79716074",0.26,0.24,0.24,0.24,0.25,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACP1",1,200,"错义",12210,"0.51=234/462",null,52,"2p25","NM_004300.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12776",21,11,0.52,{"$nulls":3},"A有","12308A","ACP2","chr11:47270255","c.86C>T(E1)","p.29,R>Q","rs2167079",0.52,0.75,0.79,0.71,0.66,0.76,"杂合","无关","有rs号，MAF>=5%","17357082;19060910","酸性磷酸酶缺乏症","AR",200950,5,3,1,1,"ACP2",1,63,"错义",12220,"0.50=15/30",null,53,"11p11.2|11p12-p11","NM_001131064.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11414",61,61,1,{"$nulls":3},"A有","12308A","ACP6","chr1:147121977","c.946C>T(E8)","p.316,V>M","rs6593795",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACP6",0.95,130,"错义",12220,"1.00=95/95",null,51205,"1q21","NM_016361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11415",36,36,1,{"$nulls":3},"A有","12308A","ACP6","chr1:147124310","c.823T>G(E7)","p.275,R>R","rs2153463",{"$nulls":4},0.7,0.71,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACP6",0.95,130,"同义",13303,"1.00=59/59",null,51205,"1q21","NM_016361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21615",8,8,1,{"$nulls":3},"A有","12308A","ACPP","chr3:132086825","m.1506G>A(E11)","非编码区","rs2198765",0.52,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACPP",1,200,"非编码区",14200,"1.00=8/8",null,55,"3q22.1","NM_001134194.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12778",27,27,1,{"$nulls":3},"A有","12308A","ACPT","chr19:51297825","c.973G>A(E9)","p.325,A>T","rs55716643",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPT",0.98,18,"错义",12220,"1.00=42/42",null,93650,"19q13.4","NM_033068.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12779",26,26,1,{"$nulls":3},"A有","12308A","ACPT","chr19:51297826","c.974C>A(E9)","p.325,A>D","rs55735528",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPT",0.98,18,"错义",12220,"1.00=42/42",null,93650,"19q13.4","NM_033068.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2201",37,18,0.49,{"$nulls":3},"A有","12308A","ACR","chr22:51182485","IVS3-4A>G","剪切位点","rs6009961",0.64,0.4,0.39,0.42,null,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,67,"剪切位点",16202,"0.50=39/78",null,49,"22q13.33","NM_001097.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2200",70,64,0.91,{"$nulls":3},"A有","12308A","ACR","chr22:51183255","c.886A>G(E5)","p.296,M>V","rs5771002",0.73,0.82,0.8,0.84,0.71,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,67,"错义",12220,"0.92=92/100",null,49,"22q13.33","NM_001097.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13184",4,4,1,{"$nulls":3},"A有","12308A","ACRBP","chr12:6747295","m.1833G>A(E10)","非编码区","rs1045553",0.64,0.59,0.59,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACRBP",1,86,"非编码区",14200,"1.00=7/7",null,84519,"12p13.31","NM_032489.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13183",33,33,1,{"$nulls":3},"A有","12308A","ACRBP","chr12:6747578","IVS9-8G>C","剪切位点","rs1882553",0.68,0.62,0.62,0.62,null,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACRBP",1,86,"剪切位点",16202,"1.00=52/52",null,84519,"12p13.31","NM_032489.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8362",66,26,0.39,{"$nulls":3},"A有","12308A","ACSBG2","chr19:6156483","c.428T>C(E5)","p.143,V>A","rs4807840",0.71,0.72,0.75,0.69,0.69,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSBG2",1,130,"错义",12220,"0.39=43/110",null,81616,"19p13.3","NM_030924.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24845",36,19,0.53,{"$nulls":3},"A有","12308A","ACSF2","chr17:48539035","c.495T>C(E4)","p.165,Y>Y","rs9674937",0.34,0.089,0.076,0.1,0.1,0.098,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSF2",1,68,"同义",13203,"0.56=33/59",null,80221,"17q21.33","NM_025149.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24846",21,9,0.43,{"$nulls":3},"A有","12308A","ACSF2","chr17:48549791","c.1326C>G(E12)","p.442,A>A","rs2305998",0.19,0.13,0.13,0.13,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSF2",1,68,"剪切位点",13202,"0.41=14/34",null,80221,"17q21.33","NM_025149.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2601",20,10,0.5,{"$nulls":3},"A有","12308A","ACSL1","chr4:185678110","m.2444A>G(E21)","非编码区","rs2292899",0.4,0.65,0.66,0.64,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,200,"非编码区",14200,"0.42=10/24",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2602",22,22,1,{"$nulls":3},"A有","12308A","ACSL1","chr4:185678118","m.2436C>G(E21)","非编码区","rs4862413",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,200,"非编码区",14200,"1.00=26/26",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2599",76,76,1,{"$nulls":3},"A有","12308A","ACSL1","chr4:185686032","c.1407C>T(E15)","p.469,L>L","rs2292898",0.83,0.93,0.94,0.92,0.9,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,200,"同义",13203,"0.99=138/139",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2600",45,19,0.42,{"$nulls":3},"A有","12308A","ACSL1","chr4:185687863","c.1176A>G(E13)","p.392,F>F","rs11727009",0.21,0.24,0.23,0.25,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,200,"同义",13203,"0.43=34/79",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24194",86,85,0.99,{"$nulls":3},"A有","12308A","ACSL3","chr2:223787559","IVS9+10G>A","非编码区","rs11891410",0.9,0.96,0.96,0.96,null,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSL3",1,290,"非编码区",16203,"0.98=145/148",null,2181,"2q34-q35","NM_004457.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21588",89,89,1,{"$nulls":3},"A有","12308A","ACSL5","chr10:114186624","IVS20+7G>A","非编码区","rs2256368",0.96,0.99,0.99,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSL5",1,180,"非编码区",16203,"1.00=139/139",null,51703,"10q25.1-q25.2","NM_016234.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22530",70,69,0.99,{"$nulls":3},"A有","12308A","ACSM1","chr16:20635418","c.1647C>T(E12)","p.549,K>K","rs3743690",0.18,0.5,0.46,0.53,0.46,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,150,"剪切位点",13201,"0.99=113/114",null,116285,"16p12.3","NM_052956.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22531",22,22,1,{"$nulls":3},"A有","12308A","ACSM1","chr16:20636814","c.1458G>A(E11)","p.486,S>S","rs2301672",0.18,0.5,0.46,0.53,0.4,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,150,"同义",13203,"1.00=37/37",null,116285,"16p12.3","NM_052956.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22529",132,132,1,{"$nulls":3},"A有","12308A","ACSM1","chr16:20638576","c.1362A>T(E10)","p.454,G>G","rs1692729",0.61,0.86,0.83,0.9,0.84,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,150,"同义",13203,"1.00=240/241",null,116285,"16p12.3","NM_052956.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6434",97,76,0.78,{"$nulls":3},"A有","12308A","ACSM2A","chr16:20476852","c.191T>C(E4)","p.64,L>P","rs7187246",0.51,0.73,0.68,0.78,0.65,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM2A",1,250,"错义",12220,"0.77=132/171",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6433",203,159,0.78,{"$nulls":3},"A有","12308A","ACSM2A","chr16:20488696","c.1104A>G(E10)","p.368,L>L","rs1700805",0.48,0.74,0.68,0.81,0.63,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM2A",1,250,"同义",13203,"0.74=270/364",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6435",152,152,1,{"$nulls":3},"A有","12308A","ACSM2A","chr16:20492000","c.1387A>G(E12)","p.463,N>D","rs146233716",0.83,0.77,0.71,0.83,0.87,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM2A",1,250,"错义",12230,"1.00=206/206",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6436",81,44,0.54,{"$nulls":3},"A有","12308A","ACSM2A","chr16:20498079","m.2052T>G(E15)","非编码区","rs2072080",0.79,0.6,0.63,0.57,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM2A",1,250,"非编码区",14200,"0.52=60/116",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23866",115,48,0.42,{"$nulls":3},"A有","12308A","ACSM2B","chr16:20551976","c.1629C>G(E13)","p.543,K>N","rs200472857",0.0008,0.0048,0,0.0097,null,3.8E-3,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ACSM2B",1,290,"错义",12110,"0.37=74/198",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23865",71,71,1,{"$nulls":3},"A有","12308A","ACSM2B","chr16:20570661","c.286T>C(E3)","p.96,I>V","rs8056693",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM2B",1,290,"错义",12220,"1.00=99/99",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23864",219,207,0.95,{"$nulls":3},"A有","12308A","ACSM2B","chr16:20576048","c.120C>A(E2)","p.40,V>V","rs112352583",0.27,0.69,0.7,0.69,0.65,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM2B",1,290,"同义",13203,"0.94=359/382",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16238",89,40,0.45,{"$nulls":3},"A有","12308A","ACSM3","chr16:20792188","IVS5+9T>C","非编码区","rs5715",0.63,0.43,0.46,0.4,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSM3",1,300,"非编码区",16203,"0.44=61/138",null,6296,"16p13.11","NM_005622.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6458",58,28,0.48,{"$nulls":3},"A有","12308A","ACSM4","chr12:7463241","c.519A>T(E3)","p.173,P>P","rs7968241",null,0.39,0.38,0.4,0.41,0.38,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACSM4",1,180,"同义",13303,"0.51=46/90",null,341392,"12p13.31","NM_001080454.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13883",64,33,0.52,{"$nulls":3},"A有","12308A","ACSM5","chr16:20439199","IVS7+10G>A","非编码区","rs11859961",0.11,0.17,0.17,0.17,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"非编码区",16203,"0.50=55/109",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13890",35,23,0.66,{"$nulls":3},"A有","12308A","ACSM5","chr16:20441020","c.1022G>A(E8)","p.341,R>K","rs12932087",0.11,0.17,0.17,0.17,0.18,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"错义",12220,"0.62=32/52",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13886",36,11,0.31,{"$nulls":3},"A有","12308A","ACSM5","chr16:20441053","c.1055C>G(E8)","p.352,P>R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"错义",12210,"0.34=18/53",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13885",34,25,0.74,{"$nulls":3},"A有","12308A","ACSM5","chr16:20441077","c.1079A>G(E8)","p.360,H>R","rs12931877",0.091,0.15,0.15,0.16,0.15,0.02,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"错义",12220,"0.69=34/49",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13889",34,34,1,{"$nulls":3},"A有","12308A","ACSM5","chr16:20441084","c.1086T>C(E8)","p.362,T>T","rs8063682",0.54,0.72,0.67,0.78,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"同义",13203,"1.00=48/48",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13887",98,25,0.26,{"$nulls":3},"A有","12308A","ACSM5","chr16:20442608","c.1273C>A(E10)","p.425,P>T","rs79364355",{"$nulls":4},0.37,0.46,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"ACSM5",1,130,"错义",12310,"0.32=55/171",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13884",97,25,0.26,{"$nulls":3},"A有","12308A","ACSM5","chr16:20442613","c.1278T>C(E10)","p.426,T>T","rs77351186",{"$nulls":4},0.37,0.46,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ACSM5",1,130,"同义",13303,"0.33=56/169",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13888",72,26,0.36,{"$nulls":3},"A有","12308A","ACSM5","chr16:20442653","IVS10+10G>A","非编码区","rs34985819",0.1,0.14,0.15,0.14,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"非编码区",16203,"0.34=45/131",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13882",2,2,1,{"$nulls":3},"A有","12308A","ACSM5","chr16:20452097","m.2235T>C(E14)","非编码区","rs12599141",0.5,0.73,0.69,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ACSM5",1,130,"非编码区",14200,"1.00=2/2",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6048",13,13,1,{"$nulls":3},"A有","12308A","ACSS1","chr20:25038484","c.255G>T(E1)","p.85,T>T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSS1",0.95,70,"同义",13203,"1.00=23/23",null,84532,"20p11.23-p11.21","NM_001252675.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29689",181,86,0.48,{"$nulls":3},"A有","12308A","ACSS2","chr20:33470694","c.276C>T(E2)","p.92,F>F","rs4911163",0.51,0.44,0.47,0.41,0.43,0.48,"杂合","无关","有rs号，MAF>=5%",20403199,{"$nulls":3},5,null,3,0,"ACSS2",0.96,140,"同义",13203,"0.47=153/325",null,55902,"20q11.22","NM_001076552.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29688",66,30,0.45,{"$nulls":3},"A有","12308A","ACSS2","chr20:33509275","IVS12+10G>A","非编码区","rs3818273",0.51,0.44,0.47,0.41,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSS2",0.96,140,"非编码区",16203,"0.46=48/105",null,55902,"20q11.22","NM_001076552.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29690",101,35,0.35,{"$nulls":3},"A有","12308A","ACSS2","chr20:33513579-33513580","IVS16+10至IVS16+11:插入G","非编码区","rs149619032",0.013,0.034,0.024,0.044,0.0079,0.061,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"ACSS2",0.96,140,"非编码区",2500,"0.35=37/107",null,55902,"20q11.22","NM_001076552.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11531",4,2,0.5,{"$nulls":3},"A有","12308A","ACTA1","chr1:229568184","IVS3-6C>T","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"3型杆状体肌病","AD,AR",161800,4,1,1,2,"ACTA1",1,25,"剪切位点",16402,"0.60=3/5",null,58,"1q42.13","NM_001100.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11531",4,2,0.5,{"$nulls":3},"A有","12308A","ACTA1","chr1:229568184","IVS3-6C>T","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"先天肌纤维不对称性肌病/先天性肌病伴肌型比例失调","AD",255310,4,1,1,2,"ACTA1",1,25,"剪切位点",16402,"0.60=3/5",null,58,"1q42.13","NM_001100.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11848",34,33,0.97,{"$nulls":3},"A有","12308A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性耳聋20型","AD",604717,5,1,1,2,"ACTG1",1,36,"同义",13203,"0.96=51/53",null,71,"17q25","NM_001199954.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11848",34,33,0.97,{"$nulls":3},"A有","12308A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Baraitser-Winter综合征2",null,614583,5,1,1,2,"ACTG1",1,36,"同义",13203,"0.96=51/53",null,71,"17q25","NM_001199954.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14992",10,4,0.4,{"$nulls":3},"A有","12308A","ACTG2","chr2:74128433","m.117C>T(E2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,null,0.56,"杂合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"非编码区",14200,"0.41=7/17",null,72,"2p13.1","NM_001199893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14991",93,50,0.54,{"$nulls":3},"A有","12308A","ACTG2","chr2:74135797","IVS2-3T>C","剪切位点","rs702461",0.58,0.59,0.61,0.57,null,0.49,"杂合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"剪切位点",16202,"0.54=83/154",null,72,"2p13.1","NM_001199893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14993",101,51,0.5,{"$nulls":3},"A有","12308A","ACTG2","chr2:74135898","c.225A>G(E3)","p.75,E>E","rs756128",0.57,0.59,0.61,0.57,0.52,0.49,"杂合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"同义",13203,"0.52=89/172",null,72,"2p13.1","NM_001199893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27934",150,150,1,{"$nulls":3},"A有","12308A","ACTL6A","chr3:179298999","c.1017C>T(E11)","p.339,D>D","rs1132429",null,0.91,0.93,0.89,0.9,0.89,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACTL6A",1,330,"同义",13303,"1.00=248/248",null,86,"3q26.33","NM_004301.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14169",12,7,0.58,{"$nulls":3},"A有","12308A","ACTL6B","chr7:100240771","m.1486A>T(E14)","非编码区","rs1052897",0.89,0.91,0.9,0.91,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTL6B",0.98,40,"非编码区",14200,"0.53=8/15",null,51412,"7q22","NM_016188.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14170",31,12,0.39,{"$nulls":3},"A有","12308A","ACTL6B","chr7:100247663","c.465G>A(E5)","p.155,T>T","rs372762306",0.0002,0,0,0,null,0.00093,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,2,0,"ACTL6B",0.98,40,"剪切位点",13101,"0.35=18/52",null,51412,"7q22","NM_016188.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26490",12,12,1,{"$nulls":3},"A有","12308A","ACTL7A","chr9:111625913","m.1311A>G(E1)","非编码区","rs4978370",0.88,0.84,0.82,0.86,null,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL7A",1,68,"非编码区",14200,"1.00=17/17",null,10881,"9q31","NM_006687.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22152",28,9,0.32,{"$nulls":3},"A有","12308A","ACTL8","chr1:18149566","c.63C>A(E2)","p.21,G>G","rs2296035",0.48,0.68,0.7,0.67,0.62,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTL8",1,30,"同义",13203,"0.31=16/51",null,81569,"1p36.2-p35","NM_030812.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22154",12,7,0.58,{"$nulls":3},"A有","12308A","ACTL8","chr1:18152646","c.733C>T(E3)","p.245,R>C","rs3795322",0.0046,0.026,0.019,0.034,0.023,0.029,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACTL8",1,30,"错义",12120,"0.63=12/19",null,81569,"1p36.2-p35","NM_030812.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4679",2,2,1,{"$nulls":3},"A有","12308A","ACTL9","chr19:8808373","c.679G>T(E1)","p.227,H>N","rs4804079",0.6,0.68,0.66,0.7,0.54,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL9",0.76,2.8,"错义",12220,"1.00=3/3",null,284382,"19p13.2","NM_178525.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4678",6,6,1,{"$nulls":3},"A有","12308A","ACTL9","chr19:8808900","c.152A>G(E1)","p.51,V>A","rs10410943",null,0.85,0.86,0.84,0.8,0.86,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ACTL9",0.76,2.8,"错义",12320,"1.00=9/9",null,284382,"19p13.2","NM_178525.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4680",5,5,1,{"$nulls":3},"A有","12308A","ACTL9","chr19:8808942","c.110A>G(E1)","p.37,F>S","rs2340550",0.79,0.85,0.86,0.84,0.79,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL9",0.76,2.8,"错义",12220,"1.00=9/9",null,284382,"19p13.2","NM_178525.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19561",98,49,0.5,{"$nulls":3},"A有","12308A","ACTN1","chr14:69378863","IVS4+10A>G","非编码区","rs2070280",0.32,0.63,0.66,0.61,0.66,0.63,"杂合","无关","有rs号，MAF>=5%",null,"血小板型出血性疾病","AD",615193,5,1,1,1,"ACTN1",1,68,"非编码区",16203,"0.55=94/172",null,87,"14q24|14q22-q24","NM_001102.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5833",7,4,0.57,{"$nulls":3},"A有","12308A","ACTN2","chr1:236849979","c.6C>A(E1)","p.2,N>K",{"$nulls":6},1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"扩张型心肌病1AA型",null,612158,3,2,5,1,"ACTN2",1,120,"错义",12420,"0.64=9/14",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5830",105,105,1,{"$nulls":3},"A有","12308A","ACTN2","chr1:236882303","c.351T>C(E3)","p.117,I>I","rs1341864",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,120,"同义",13203,"1.00=182/182",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5828",141,141,1,{"$nulls":3},"A有","12308A","ACTN2","chr1:236883421","c.378C>T(E4)","p.126,N>N","rs1341863",0.92,0.98,0.99,0.97,0.94,0.98,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,120,"同义",13203,"1.00=255/255",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5829",33,33,1,{"$nulls":3},"A有","12308A","ACTN2","chr1:236902594","IVS9-8C>G","剪切位点","rs2288601",0.77,0.77,0.77,0.77,0.81,0.8,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,120,"剪切位点",16201,"0.98=63/64",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5831",4,4,1,{"$nulls":3},"A有","12308A","ACTN2","chr1:236926030","m.3000A>G(E21)","非编码区","rs1051251",0.35,0.37,0.35,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,120,"非编码区",14200,"1.00=5/5",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8041",80,30,0.38,{"$nulls":3},"A有","12308A","ACTN4","chr19:39196745","c.546C>T(E5)","p.182,N>N","rs3745859",0.34,0.39,0.41,0.37,0.37,0.44,"杂合","无关","有rs号，MAF>=5%",null,"局灶性节段性肾小球硬化症1型",null,603278,5,2,1,1,"ACTN4",0.98,45,"同义",13203,"0.37=52/140",null,81,"19q13","NM_004924.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30368",34,15,0.44,{"$nulls":3},"A有","12308A","ACTR1B","chr2:98273290","m.1370C>T(E11)","非编码区","rs11547232",0.3,0.31,0.26,0.35,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR1B",0.96,50,"非编码区",14200,"0.44=27/61",null,10120,"2q11.1-q11.2","NM_005735.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30367",29,29,1,{"$nulls":3},"A有","12308A","ACTR1B","chr2:98273661","IVS9-6A>G","剪切位点","rs2290124",0.53,0.38,0.33,0.43,0.39,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR1B",0.96,50,"剪切位点",16202,"1.00=43/43",null,10120,"2q11.1-q11.2","NM_005735.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30369",21,21,1,{"$nulls":3},"A有","12308A","ACTR1B","chr2:98274527","c.804G>C(E8)","p.268,V>V","rs1042705",0.53,0.38,0.33,0.43,0.36,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR1B",0.96,50,"同义",13203,"1.00=29/29",null,10120,"2q11.1-q11.2","NM_005735.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30366",16,8,0.5,{"$nulls":3},"A有","12308A","ACTR1B","chr2:98277090","c.133T>C(E3)","p.45,M>V","rs79616802",0.13,0.026,0.019,0.034,0.029,0.026,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR1B",0.96,50,"错义",12220,"0.50=14/28",null,10120,"2q11.1-q11.2","NM_005735.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19913",96,95,0.99,{"$nulls":3},"A有","12308A","ACTR2","chr2:65481008","IVS6+10A>C","非编码区","rs268871",0.79,0.81,0.8,0.82,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",0.96,250,"非编码区",16203,"0.99=173/174",null,10097,"2p14","NM_001005386.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19912",99,99,1,{"$nulls":3},"A有","12308A","ACTR2","chr2:65495887","m.1434G>A(E10)","非编码区","rs268875",0.81,0.73,0.72,0.73,null,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=139/139",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19909",21,21,1,{"$nulls":3},"A有","12308A","ACTR2","chr2:65496018","m.1565C>G(E10)","非编码区","rs11424",0.4,0.74,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=23/23",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19911",3,3,1,{"$nulls":3},"A有","12308A","ACTR2","chr2:65496144","m.1691A>G(E10)","非编码区","rs190577",0.81,0.8,0.79,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=4/4",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19908",2,2,1,{"$nulls":3},"A有","12308A","ACTR2","chr2:65496251","m.1798G>T(E10)","非编码区","rs4513276",0.4,0.74,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",0.96,250,"非编码区",14200,"1.00=2/2",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16849",131,57,0.44,{"$nulls":3},"A有","12308A","ACTR5","chr20:37396120","c.1447A>G(E8)","p.483,I>V","rs2245231",0.43,0.42,0.41,0.42,0.38,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,100,"错义",12220,"0.43=100/235",null,79913,"20q11.23","NM_024855.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16850",7,6,0.86,{"$nulls":3},"A有","12308A","ACTR5","chr20:37400490","m.1880G>A(E9)","非编码区","rs6128952",0.16,0.14,0.14,0.15,null,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,100,"非编码区",14200,"0.86=6/7",null,79913,"20q11.23","NM_024855.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16851",7,6,0.86,{"$nulls":3},"A有","12308A","ACTR5","chr20:37400515","m.1905T>A(E9)","非编码区","rs6128953",0.032,0.05,0.043,0.058,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ACTR5",0.79,100,"非编码区",14100,"0.86=6/7",null,79913,"20q11.23","NM_024855.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16184",69,67,0.97,{"$nulls":3},"A有","12308A","ACTR8","chr3:53905308","c.1518T>C(E11)","p.506,G>G","rs1046677",0.69,0.94,0.93,0.96,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,210,"同义",13203,"0.98=109/111",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16186",121,121,1,{"$nulls":3},"A有","12308A","ACTR8","chr3:53906513","c.1200G>A(E10)","p.400,I>I","rs4687757",0.69,0.94,0.93,0.96,0.92,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,210,"同义",13203,"1.00=205/206",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16187",188,83,0.44,{"$nulls":3},"A有","12308A","ACTR8","chr3:53910019","c.867T>C(E7)","p.289,T>T",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ACTR8",1,210,"同义",13403,"0.43=159/371",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16185",86,86,1,{"$nulls":3},"A有","12308A","ACTR8","chr3:53911783","IVS3-5A>G","剪切位点","rs2276842",0.14,0.21,0.21,0.21,null,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,210,"剪切位点",16202,"1.00=137/137",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16183",105,105,1,{"$nulls":3},"A有","12308A","ACTR8","chr3:53914093","c.167G>A(E2)","p.56,T>I","rs3733082",0.11,0.094,0.1,0.087,0.12,0.13,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,210,"错义",12220,"0.99=172/173",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26307",27,27,1,{"$nulls":3},"A有","12308A","ACTRT2","chr1:2938265","c.15C>T(E1)","p.5,H>H","rs4576609",0.2,0.45,0.43,0.48,0.45,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTRT2",1,26,"同义",13203,"1.00=48/48",null,140625,"1p36.32","NM_080431.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26306",20,20,1,{"$nulls":3},"A有","12308A","ACTRT2","chr1:2938697","c.447T>G(E1)","p.149,S>S","rs3795262",0.21,0.45,0.43,0.48,0.39,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTRT2",1,26,"同义",13203,"1.00=32/32",null,140625,"1p36.32","NM_080431.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26305",21,21,1,{"$nulls":3},"A有","12308A","ACTRT2","chr1:2939409","m.1364G>T(E1)","非编码区","rs12564513",0.078,0.22,0.23,0.21,null,0.19,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTRT2",1,26,"非编码区",14200,"1.00=33/33",null,140625,"1p36.32","NM_080431.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1563",46,46,1,{"$nulls":3},"A有","12308A","ACTRT3","chr3:169486144","IVS1-6A>G","剪切位点","rs9822885",0.43,0.7,0.68,0.72,null,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,140,"剪切位点",16202,"1.00=76/76",null,84517,"3q26.2","NM_032487.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1562",3,3,1,{"$nulls":3},"A有","12308A","ACTRT3","chr3:169487437","m.247G>A(E1)","非编码区","rs12637184",0.27,0.56,0.53,0.59,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,140,"非编码区",14200,"1.00=4/4",null,84517,"3q26.2","NM_032487.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10757",118,118,1,{"$nulls":3},"A有","12308A","ACVR1","chr2:158626980","c.690C>T(E7)","p.230,E>E","rs1146031",0.91,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%","18781190;19299629;23644028","进行性骨化性纤维发育不良","AD",135100,5,1,4,1,"ACVR1",1,210,"同义",13203,"1.00=191/191",null,90,"2q23-q24","NM_001105.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10760",119,52,0.44,{"$nulls":3},"A有","12308A","ACVR1","chr2:158634774","c.412A>G(E5)","p.138,L>L","rs529295345",0.0006,0,0,0,null,2E-3,"杂合","未知","预测范围之外的同义突变",null,"进行性骨化性纤维发育不良","AD",135100,4,1,4,1,"ACVR1",1,210,"同义",13103,"0.42=88/209",null,90,"2q23-q24","NM_001105.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10759",114,55,0.48,{"$nulls":3},"A有","12308A","ACVR1","chr2:158634834","c.352G>C(E5)","p.118,Q>E",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"进行性骨化性纤维发育不良","AD",135100,3,1,4,1,"ACVR1",1,210,"错义",12420,"0.50=107/213",null,90,"2q23-q24","NM_001105.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10758",36,36,1,{"$nulls":3},"A有","12308A","ACVR1","chr2:158636910","c.270G>A(E4)","p.90,A>A","rs2227861",0.65,0.91,0.91,0.91,0.9,0.93,"纯合","无关","有rs号，MAF>=5%","18781190;19299629","进行性骨化性纤维发育不良","AD",135100,5,1,4,1,"ACVR1",1,210,"同义",13203,"1.00=53/53",null,90,"2q23-q24","NM_001105.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21429",216,216,1,{"$nulls":3},"A有","12308A","ACVR1C","chr2:158395079","IVS8+6C>G","剪切位点","rs7576514",0.84,0.92,0.95,0.9,null,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACVR1C",0.95,230,"剪切位点",16202,"1.00=365/366",null,130399,"2q24.1","NM_001111031.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21428",98,98,1,{"$nulls":3},"A有","12308A","ACVR1C","chr2:158443889","c.114G>A(E2)","p.38,F>F","rs4556933",0.44,0.32,0.34,0.31,0.31,0.31,"纯合","无关","有rs号，MAF>=5%",18781190,{"$nulls":3},5,null,2,0,"ACVR1C",0.95,230,"同义",13203,"0.99=163/164",null,130399,"2q24.1","NM_001111032.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9024",165,76,0.46,{"$nulls":3},"A有","12308A","ACVR2A","chr2:148657117","c.354G>A(E3)","p.118,P>P","rs1128919",0.35,0.48,0.52,0.44,0.51,0.52,"杂合","无关","有rs号，MAF>=5%",19126782,{"$nulls":3},5,null,1,0,"ACVR2A",1,240,"同义",13203,"0.45=145/321",null,92,"2q22.3","NM_001616.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19902",21,11,0.52,{"$nulls":3},"A有","12308A","ACY3","chr11:67412771","c.513G>C(E5)","p.171,A>A","rs17148450",0.059,0.15,0.17,0.13,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACY3",0.85,32,"同义",13203,"0.50=16/32",null,91703,"11q13.2","NM_080658.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13989",76,76,1,{"$nulls":3},"A有","12308A","ACYP1","chr14:75520065","m.470T>C(E3)","非编码区","rs7303",0.5,0.83,0.82,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACYP1",1,180,"非编码区",14200,"0.99=114/115",null,97,"14q24.3","NM_001107.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13780",82,82,1,{"$nulls":3},"A有","12308A","ADA","chr20:43264927","c.36C>T(E2)","p.12,V>V","rs394105",0.98,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"由于腺苷脱氨酶缺陷症导致的常染色体隐性遗传重症联合免疫缺陷（T细胞B细胞NK细胞抑制型）","AR",102700,5,1,1,1,"ADA",1,98,"剪切位点",13202,"1.00=136/136",null,100,"20q13.12","NM_000022.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7240",52,29,0.56,{"$nulls":3},"A有","12308A","ADAD2","chr16:84227713","c.520C>T(E2)","p.174,R>C","rs78344060",0.038,0.075,0.071,0.078,0.067,0.078,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ADAD2",0.85,13,"错义",12120,"0.53=45/85",null,161931,"16q24.1","NM_139174.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7236",3,2,0.67,{"$nulls":3},"A有","12308A","ADAD2","chr16:84229309","IVS6+6C>G","剪切位点","rs191155110",0.008,0.048,0.033,0.063,null,0.041,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,5,0,"ADAD2",0.85,13,"剪切位点",16101,"0.43=3/7",null,161931,"16q24.1","NM_001145400.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7239",4,2,0.5,{"$nulls":3},"A有","12308A","ADAD2","chr16:84229543","c.1175G>A(E7)","p.392,G>D",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ADAD2",0.85,13,"错义",12410,"0.67=6/9",null,161931,"16q24.1","NM_001145400.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7237",4,4,1,{"$nulls":3},"A有","12308A","ADAD2","chr16:84229559","c.1191T>C(E7)","p.397,S>S","rs2303238",0.81,0.71,0.69,0.73,0.58,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.85,13,"同义",13203,"1.00=9/9",null,161931,"16q24.1","NM_001145400.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7238",5,2,0.4,{"$nulls":3},"A有","12308A","ADAD2","chr16:84229634","c.1266C>A(E7)","p.422,S>R",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ADAD2",0.85,13,"错义",12420,"0.55=6/11",null,161931,"16q24.1","NM_001145400.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28898",132,71,0.54,{"$nulls":3},"A有","12308A","ADAL","chr15:43632549","c.342T>C(E6)","p.114,T>T","rs2278857",0.54,0.5,0.48,0.53,0.44,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAL",1,240,"剪切位点",13202,"0.52=118/228",null,161823,"15q15.3","NM_001012969.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11805",13,13,1,{"$nulls":3},"A有","12308A","ADAM11","chr17:42852604","c.1245G>T(E15)","p.415,S>S","rs1558083",0.65,0.77,0.76,0.79,0.77,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM11",0.94,29,"同义",13203,"1.00=22/22",null,4185,"17q21.3","NM_002390.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11804",13,13,1,{"$nulls":3},"A有","12308A","ADAM11","chr17:42852610","c.1251T>C(E15)","p.417,C>C","rs1558084",0.9,0.87,0.87,0.87,0.83,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM11",0.94,29,"同义",13203,"1.00=22/22",null,4185,"17q21.3","NM_002390.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11806",4,4,1,{"$nulls":3},"A有","12308A","ADAM11","chr17:42854610","c.1758T>C(E21)","p.586,S>S","rs8075210",0.65,0.77,0.76,0.79,0.74,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM11",0.94,29,"同义",13203,"1.00=6/6",null,4185,"17q21.3","NM_002390.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11807",34,34,1,{"$nulls":3},"A有","12308A","ADAM11","chr17:42855554","c.2220T>C(E25)","p.740,I>I","rs2070605",0.65,0.77,0.76,0.79,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM11",0.94,29,"同义",13203,"1.00=55/55",null,4185,"17q21.3","NM_002390.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24020",2,2,1,{"$nulls":3},"A有","12308A","ADAM12","chr10:127705367","m.3624T>C(E23)","非编码区","rs7916918",0.64,0.79,0.81,0.77,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM12",0.97,140,"非编码区",14200,"1.00=2/2",null,8038,"10q26.3","NM_003474.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24021",2,2,1,{"$nulls":3},"A有","12308A","ADAM12","chr10:127705404","m.3587A>G(E23)","非编码区","rs7913591",0.63,0.79,0.81,0.77,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM12",0.97,140,"非编码区",14200,"1.00=2/2",null,8038,"10q26.3","NM_003474.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24018",45,18,0.4,{"$nulls":3},"A有","12308A","ADAM12","chr10:127724778","c.2475A>G(E21)","p.825,A>A","rs1044122",0.27,0.45,0.47,0.44,0.38,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM12",0.97,140,"同义",13203,"0.36=29/81",null,8038,"10q26.3","NM_003474.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24019",46,21,0.46,{"$nulls":3},"A有","12308A","ADAM12","chr10:127737918","c.1830T>A(E16)","p.610,G>G","rs184387932",0.0004,0.0048,0.0095,0,0.0057,0.0065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ADAM12",0.97,140,"同义",13103,"0.44=30/68",null,8038,"10q26.3","NM_003474.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31541",22,22,1,{"$nulls":3},"A有","12308A","ADAM15","chr1:155026942","c.602A>C(E6)","p.201,K>T","rs6427128",0.9,1,1,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM15",1,47,"错义",12220,"1.00=35/35",null,8751,"1q21.3","NM_001261464.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31542",11,8,0.73,{"$nulls":3},"A有","12308A","ADAM15","chr1:155033317","IVS19+9T>C","非编码区","rs11264304",0.7,0.94,0.94,0.94,0.87,0.91,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM15",1,47,"非编码区",16203,"0.80=12/15",null,8751,"1q21.3","NM_001261464.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24486",85,35,0.41,{"$nulls":3},"A有","12308A","ADAM19","chr5:156916167","c.2268G>A(E20)","p.756,S>S",{"$nulls":6},1E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ADAM19",1,100,"同义",13403,"0.39=59/151",null,8728,"5q33.3","NM_033274.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15454",13,13,1,{"$nulls":3},"A有","12308A","ADAM20","chr14:70991650","m.220A>C(E2)","非编码区","rs74062730",0.19,0.51,0.46,0.57,null,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM20",1,150,"非编码区",14200,"1.00=17/17",null,8748,"14q24.1","NM_003814.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5807",17,17,1,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924072","m.114A>G(E2)","非编码区","rs4143920",0.31,0.54,0.54,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"非编码区",14200,"1.00=21/21",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5802",41,41,1,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924249","c.33A>G(E2)","p.11,R>R","rs3751521",0.65,0.89,0.9,0.88,0.86,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"1.00=59/59",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5801",111,31,0.28,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924450","c.234C>T(E2)","p.78,V>V","rs58247196",{"$nulls":4},0.28,0.36,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,93,"同义",13303,"0.33=67/201",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5803",105,29,0.28,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924462","c.246A>G(E2)","p.82,L>L","rs3751523",{"$nulls":4},0.51,0.54,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,93,"同义",13303,"0.32=58/179",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5806",87,61,0.7,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924501","c.285C>G(E2)","p.95,D>E","rs8010994",{"$nulls":4},0.8,0.61,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,13,0,"ADAM21",1,93,"错义",12320,"0.64=83/130",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5810",56,56,1,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924566","c.350C>G(E2)","p.117,A>G","rs3829452",0.37,0.6,0.59,0.61,0.61,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"错义",12220,"1.00=79/79",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5798",56,55,0.98,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924567","c.351A>T(E2)","p.117,A>A","rs3829453",0.37,0.6,0.59,0.61,0.61,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"0.99=78/79",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5809",40,39,0.97,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924693","c.477T>C(E2)","p.159,Y>Y","rs45480894",0.26,0.52,0.52,0.52,0.41,0.26,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"0.98=56/57",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5800",39,39,1,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924696","c.480G>A(E2)","p.160,K>K","rs77892318",0.25,0.52,0.51,0.52,0.42,0.19,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"1.00=56/56",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5805",39,39,1,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924697","c.481A>G(E2)","p.161,I>V","rs45545935",0.25,0.52,0.51,0.52,0.43,0.18,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"错义",12220,"1.00=56/56",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5799",59,59,1,{"$nulls":3},"A有","12308A","ADAM21","chr14:70924955","c.739A>C(E2)","p.247,K>Q","rs114864695",0.28,0.54,0.54,0.54,0.5,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"错义",12220,"1.00=87/87",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5808",53,53,1,{"$nulls":3},"A有","12308A","ADAM21","chr14:70925257","c.1041A>G(E2)","p.347,L>L","rs12436346",{"$nulls":4},0.99,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,93,"同义",13303,"1.00=68/68",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5804",27,27,1,{"$nulls":3},"A有","12308A","ADAM21","chr14:70925818","c.1602T>C(E2)","p.534,N>N","rs2022624",0.74,0.9,0.9,0.89,0.8,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ADAM21",1,93,"同义",13203,"1.00=27/27",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23522",7,2,0.29,{"$nulls":3},"A有","12308A","ADAM22","chr7:87564497","c.242C>G(E2)","p.81,P>R","rs2279542",0.63,0.52,0.57,0.47,0.42,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM22",1,250,"错义",12220,"0.22=2/9",null,53616,"7q21","NM_004194.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v691",73,70,0.96,{"$nulls":3},"A有","12308A","ADAM23","chr2:207459467","c.2085C>T(E23)","p.695,A>A","rs3732079",0.18,0.17,0.15,0.19,0.2,0.17,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM23",0.91,210,"同义",13203,"0.98=120/123",null,8745,"2q33","NM_003812.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26199",205,107,0.52,{"$nulls":3},"A有","12308A","ADAM28","chr8:24171051","c.534C>T(E6)","p.178,H>H","rs6996616",0.19,0.39,0.38,0.41,0.35,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"同义",13203,"0.57=207/366",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26201",94,47,0.5,{"$nulls":3},"A有","12308A","ADAM28","chr8:24188844","IVS12+4T>C","剪切位点","rs2278467",0.22,0.4,0.39,0.42,null,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"剪切位点",16202,"0.50=75/151",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26202",31,31,1,{"$nulls":3},"A有","12308A","ADAM28","chr8:24193264","m.1760T>C(E14)","非编码区","rs4872222",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"非编码区",14200,"1.00=46/46",null,10863,"8p21.2","NM_021777.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26200",113,50,0.44,{"$nulls":3},"A有","12308A","ADAM28","chr8:24197017","c.1606G>A(E15)","p.536,E>K","rs200784274",0.0008,0.0048,0.0048,0.0049,0.0046,2.8E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,10,0,"ADAM28",1,240,"错义",12120,"0.42=79/187",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26204",130,67,0.52,{"$nulls":3},"A有","12308A","ADAM28","chr8:24201069","c.1962C>T(E18)","p.654,P>P",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ADAM28",1,240,"同义",13403,"0.50=105/210",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26198",162,73,0.45,{"$nulls":3},"A有","12308A","ADAM28","chr8:24207399","c.2013G>C(E19)","p.671,V>V","rs7829944",0.072,0.091,0.062,0.12,0.11,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"同义",13203,"0.45=124/275",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26203",153,69,0.45,{"$nulls":3},"A有","12308A","ADAM28","chr8:24207438","c.2052G>A(E19)","p.684,M>I","rs7829965",0.08,0.091,0.062,0.12,0.12,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"错义",12220,"0.47=121/259",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26197",198,198,1,{"$nulls":3},"A有","12308A","ADAM28","chr8:24211278","IVS21-5C>T","剪切位点","rs7815643",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"剪切位点",16202,"1.00=384/384",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26205",192,192,1,{"$nulls":3},"A有","12308A","ADAM28","chr8:24211331","c.2293G>A(E22)","p.765,V>M","rs7814768",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM28",1,240,"错义",12220,"1.00=358/358",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26206",107,76,0.71,{"$nulls":3},"A有","12308A","ADAM28","chr8:24211994-24211997","m.2488(E23)至m.2491(E23):缺失CTAT","非编码区","rs10610134",0.97,1,1,1,0.14,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,10,0,"ADAM28",1,240,"非编码区",2420,"0.60=86/143",null,10863,"8p21.2","NM_014265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16565",151,151,1,{"$nulls":3},"A有","12308A","ADAM32","chr8:39080632","c.1400C>G(E14)","p.467,T>S","rs7845771",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM32",1,300,"错义",12230,"1.00=271/271",null,203102,"8p11.22","NM_145004.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6266",5,2,0.4,{"$nulls":3},"A有","12308A","ADAM33","chr20:3651742","c.2151C>G(E19)","p.717,G>G","rs528557",0.39,0.23,0.25,0.2,0.17,0.33,"杂合","无关","有rs号，MAF>=5%","16784537;19146844;19236319;19284602;19317339;21179102;22269827;22583515;23380143;24141861;24562625;24751681;24944803;25068505",{"$nulls":3},5,null,2,0,"ADAM33",0.76,20,"同义",13203,"0.29=2/7",null,80332,"20p13","NM_025220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6267",5,2,0.4,{"$nulls":3},"A有","12308A","ADAM33","chr20:3651765","c.2128C>T(E19)","p.710,V>I","rs3918396",0.048,0.019,0.019,0.019,0.012,0.025,"杂合","未知","蛋白结构预测结果为容忍或无害","12695330;16784537;17878941;18778489;19236319;19284602;22871616;23380143;25068505",{"$nulls":3},3,null,2,0,"ADAM33",0.76,20,"错义",12120,"0.29=2/7",null,80332,"20p13","NM_025220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16098",224,111,0.5,{"$nulls":3},"A有","12308A","ADAM7","chr8:24339679","c.730G>A(E9)","p.244,V>M","rs13255694",0.26,0.17,0.14,0.19,0.19,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM7",1,300,"错义",12210,"0.47=183/389",null,8756,"8p21.2","NM_003817.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16096",249,128,0.51,{"$nulls":3},"A有","12308A","ADAM7","chr8:24356818","c.1912A>C(E17)","p.638,N>H","rs13259668",0.33,0.18,0.15,0.21,0.19,0.18,"杂合","无关","有rs号，MAF>=5%",19435634,{"$nulls":3},5,null,3,0,"ADAM7",1,300,"错义",12210,"0.52=231/442",null,8756,"8p21.2","NM_003817.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16097",152,74,0.49,{"$nulls":3},"A有","12308A","ADAM7","chr8:24359068","c.2187G>A(E20)","p.729,L>L","rs13277171",0.26,0.18,0.15,0.2,0.19,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM7",1,300,"同义",13203,"0.52=135/262",null,8756,"8p21.2","NM_003817.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3028",13,13,1,{"$nulls":3},"A有","12308A","ADAM8","chr10:135076523","m.2698C>A(E23)","非编码区","rs2995300",0.83,0.94,0.93,0.94,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAM8",0.95,11,"非编码区",14200,"1.00=18/18",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3030",22,22,1,{"$nulls":3},"A有","12308A","ADAM8","chr10:135076596","m.2625T>C(E23)","非编码区","rs2230576",0.74,0.93,0.91,0.94,0.9,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAM8",0.95,11,"非编码区",14200,"1.00=34/34",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3027",13,13,1,{"$nulls":3},"A有","12308A","ADAM8","chr10:135082346","c.1969A>G(E19)","p.657,F>L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,8,0,"ADAM8",0.95,11,"错义",12220,"1.00=21/21",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3034",4,4,1,{"$nulls":3},"A有","12308A","ADAM8","chr10:135085321","c.1095C>T(E11)","p.365,A>A","rs1131720",0.85,0.94,0.93,0.94,0.73,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAM8",0.95,11,"同义",13203,"1.00=4/4",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3031",5,5,1,{"$nulls":3},"A有","12308A","ADAM8","chr10:135085754","c.900G>A(E10)","p.300,T>T","rs1131718",0.88,0.95,0.96,0.95,0.83,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAM8",0.95,11,"同义",13203,"1.00=14/14",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3032",13,13,1,{"$nulls":3},"A有","12308A","ADAM8","chr10:135086380","IVS7-10C>T","剪切位点","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAM8",0.95,11,"剪切位点",16202,"1.00=17/17",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3029",5,5,1,{"$nulls":3},"A有","12308A","ADAM8","chr10:135087521","c.136G>A(E3)","p.46,L>F","rs3008326",0.72,0.94,0.93,0.94,0.87,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAM8",0.95,11,"错义",12220,"1.00=7/7",null,101,"10q26.3","NM_001164490.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3026",3,3,1,{"$nulls":3},"A有","12308A","ADAM8","chr10:135089035","c.103A>G(E2)","p.35,W>R","rs2275725",0.9,0.95,0.96,0.95,0.81,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAM8",0.95,11,"错义",12220,"1.00=3/3",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12462",33,19,0.58,{"$nulls":3},"A有","12308A","ADAMDEC1","chr8:24241904","m.107T>C(E1)","非编码区","rs12334642",0.05,0.048,0.062,0.034,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAMDEC1",1,290,"非编码区",14200,"0.55=23/42",null,27299,"8p21.2","NM_001145271.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12464",156,85,0.54,{"$nulls":3},"A有","12308A","ADAMDEC1","chr8:24256052","c.513C>T(E9)","p.171,N>N","rs2291576",0.066,0.11,0.09,0.13,0.068,0.078,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAMDEC1",1,290,"同义",13203,"0.50=144/286",null,27299,"8p21.2","NM_001145271.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12461",106,46,0.43,{"$nulls":3},"A有","12308A","ADAMDEC1","chr8:24256470","c.609C>T(E10)","p.203,S>S","rs2291577",0.29,0.19,0.17,0.22,0.2,0.19,"杂合","无关","有rs号，MAF>=5%",18449420,{"$nulls":3},5,null,4,0,"ADAMDEC1",1,290,"同义",13203,"0.39=73/185",null,27299,"8p21.2","NM_001145271.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12463",211,99,0.47,{"$nulls":3},"A有","12308A","ADAMDEC1","chr8:24261526","c.1094A>G(E14)","p.365,N>S","rs3765124",0.29,0.2,0.17,0.22,0.2,0.19,"杂合","无关","有rs号，MAF>=5%",18449420,{"$nulls":3},5,null,4,0,"ADAMDEC1",1,290,"错义",12210,"0.47=169/362",null,27299,"8p21.2","NM_001145271.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15396",21,20,0.95,{"$nulls":3},"A有","12308A","ADAMTS10","chr19:8645786","c.3303A>C(E26)","p.1101,H>Q","rs7252299",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,1,1,"ADAMTS10",0.87,29,"错义",12230,"0.96=26/27",null,81794,"19p13.2","NM_030957.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17970",38,38,1,{"$nulls":3},"A有","12308A","ADAMTS12","chr5:33535060","c.4484G>A(E23)","p.1495,T>I","rs25754",0.6,0.78,0.79,0.77,0.76,0.78,"纯合","无关","有rs号，MAF>=5%","22505177;24876675",{"$nulls":3},5,null,2,0,"ADAMTS12",1,130,"错义",12210,"1.00=68/68",null,81792,"5q35","NM_030955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17969",36,13,0.36,{"$nulls":3},"A有","12308A","ADAMTS12","chr5:33649807","IVS7-5C>A","剪切位点","rs4504387",0.54,0.73,0.72,0.73,null,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS12",1,130,"剪切位点",16202,"0.38=19/50",null,81792,"5q35","NM_030955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7005",22,22,1,{"$nulls":3},"A有","12308A","ADAMTS13","chr9:136291063","c.420C>T(E5)","p.140,A>A","rs3118667",0.58,0.84,0.85,0.83,0.8,0.84,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,2,1,"ADAMTS13",0.97,25,"同义",13203,"0.97=33/34",null,11093,"9q34","NM_139025.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7007",78,78,1,{"$nulls":3},"A有","12308A","ADAMTS13","chr9:136304497","c.1716A>G(E15)","p.572,T>T","rs3124768",0.52,0.82,0.82,0.82,0.83,0.82,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,2,1,"ADAMTS13",0.97,25,"同义",13203,"1.00=139/139",null,11093,"9q34","NM_139025.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21295",24,24,1,{"$nulls":3},"A有","12308A","ADAMTS14","chr10:72500763","c.1769T>C(E12)","p.590,L>P","rs10823607",0.8,0.91,0.9,0.93,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",23728906,{"$nulls":3},5,null,5,0,"ADAMTS14",0.98,35,"错义",12220,"1.00=46/46",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21297",17,17,1,{"$nulls":3},"A有","12308A","ADAMTS14","chr10:72500863","c.1869C>G(E12)","p.623,S>S","rs10999500",0.67,0.85,0.83,0.86,0.81,0.87,"纯合","无关","有rs号，MAF>=5%",21283782,{"$nulls":3},5,null,5,0,"ADAMTS14",0.98,35,"同义",13203,"1.00=27/27",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21298",20,12,0.6,{"$nulls":3},"A有","12308A","ADAMTS14","chr10:72503344","c.1965G>A(E13)","p.655,T>T","rs10999502",0.31,0.49,0.48,0.5,0.46,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTS14",0.98,35,"同义",13203,"0.58=22/38",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21299",27,14,0.52,{"$nulls":3},"A有","12308A","ADAMTS14","chr10:72520259","c.3322C>T(E22)","p.1108,P>S","rs61573157",0.066,0.12,0.09,0.16,0.11,0.094,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTS14",0.98,35,"错义",12220,"0.51=20/39",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21296",28,14,0.5,{"$nulls":3},"A有","12308A","ADAMTS14","chr10:72520330","c.3393A>G(E22)","p.1131,A>A","rs10823615",0.39,0.28,0.28,0.28,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTS14",0.98,35,"同义",13203,"0.44=17/39",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10480",7,7,1,{"$nulls":3},"A有","12308A","ADAMTS15","chr11:130339312","c.1698T>C(E5)","p.566,N>N","rs731446",0.57,0.35,0.34,0.36,0.32,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS15",1,25,"同义",13203,"1.00=11/11",null,170689,"11q25","NM_139055.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10481",14,10,0.71,{"$nulls":3},"A有","12308A","ADAMTS15","chr11:130340962","c.1868A>G(E6)","p.623,N>S","rs11222114",0.07,0.26,0.26,0.25,0.27,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS15",1,25,"错义",12210,"0.78=18/23",null,170689,"11q25","NM_139055.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24506",40,17,0.42,{"$nulls":3},"A有","12308A","ADAMTS16","chr5:5146335","c.268C>G(E3)","p.90,P>A","rs2086310",0.7,0.49,0.49,0.48,0.5,0.51,"杂合","无关","有rs号，MAF>=5%",19423552,{"$nulls":3},5,null,7,0,"ADAMTS16",0.96,100,"错义",12220,"0.38=20/53",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24504",48,19,0.4,{"$nulls":3},"A有","12308A","ADAMTS16","chr5:5146377","c.310T>C(E3)","p.104,S>P","rs1019747",0.49,0.52,0.56,0.49,0.48,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"错义",12220,"0.37=28/76",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24501",47,28,0.6,{"$nulls":3},"A有","12308A","ADAMTS16","chr5:5146395","c.328A>G(E3)","p.110,M>V","rs1863968",0.48,0.39,0.35,0.43,0.36,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"错义",12220,"0.60=49/81",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24505",119,119,1,{"$nulls":3},"A有","12308A","ADAMTS16","chr5:5200281","c.1350C>T(E9)","p.450,C>C","rs6555335",0.73,0.83,0.82,0.84,0.83,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"同义",13203,"0.99=232/234",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24502",34,15,0.44,{"$nulls":3},"A有","12308A","ADAMTS16","chr5:5242218","c.2576G>T(E17)","p.859,R>L","rs16875122",0.073,0.19,0.18,0.21,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"错义",12210,"0.39=25/64",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24500",32,14,0.44,{"$nulls":3},"A有","12308A","ADAMTS16","chr5:5242228","c.2586C>T(E17)","p.862,T>T","rs77812048",0.073,0.19,0.18,0.21,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"同义",13203,"0.42=23/55",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24503",4,4,1,{"$nulls":3},"A有","12308A","ADAMTS16","chr5:5319407","m.3969T>G(E23)","非编码区","rs16875319",0.37,0.54,0.54,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.96,100,"非编码区",14200,"1.00=6/6",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17843",10,10,1,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100514494","m.3480T>C(E22)","非编码区","rs2581341",0.59,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,11,1,"ADAMTS17",0.86,67,"非编码区",14200,"1.00=10/10",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17842",13,13,1,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100514525","m.3449C>T(E22)","非编码区","rs3825894",0.34,0.4,0.41,0.39,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,11,1,"ADAMTS17",0.86,67,"非编码区",14200,"1.00=13/13",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17848",14,14,1,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100514561","m.3413G>C(E22)","非编码区","rs2581340",{"$nulls":5},0.53,"纯合","未知","UTR突变可能影响蛋白翻译",null,"Weill-Marchesani样综合症","AR",613195,3,1,11,1,"ADAMTS17",0.86,67,"非编码区",14300,"1.00=17/17",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17844",18,18,1,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100514614","c.3281T>C(E22)","p.1094,N>S","rs2573652",0.68,0.56,0.58,0.53,0.47,0.56,"纯合","无关","有rs号，MAF>=5%",19330903,"Weill-Marchesani样综合症","AR",613195,5,1,11,1,"ADAMTS17",0.86,67,"错义",12220,"1.00=24/24",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17846",22,22,1,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100672237","c.1696T>G(E12)","p.566,R>R","rs12907333",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,11,1,"ADAMTS17",0.86,67,"同义",13203,"0.97=38/39",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17845",16,8,0.5,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100692845","c.1445A>G(E10)","p.482,M>T","rs28567966",0.15,0.065,0.062,0.068,0.052,0.053,"杂合","无关","有rs号，MAF>=5%",19330903,"Weill-Marchesani样综合症","AR",613195,5,3,11,1,"ADAMTS17",0.86,67,"错义",12220,"0.45=10/22",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17852",234,234,1,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100794363","c.1053C>T(E7)","p.351,K>K","rs4369638",0.82,0.86,0.84,0.88,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,11,1,"ADAMTS17",0.86,67,"同义",13203,"1.00=408/408",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17841",72,72,1,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100801698","c.1017G>A(E6)","p.339,A>A","rs4965613",0.69,0.61,0.59,0.62,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,11,1,"ADAMTS17",0.86,67,"同义",13203,"1.00=112/112",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17851",10,6,0.6,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100821426","IVS4+8G>A","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.28,0.3,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,11,1,"ADAMTS17",0.86,67,"非编码区",16203,"0.50=8/16",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17853",9,5,0.56,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100821467","c.756G>A(E4)","p.252,A>A","rs7496640",null,0.49,0.5,0.49,0.46,0.54,"杂合","未知","预测范围之外的同义突变",null,"Weill-Marchesani样综合症","AR",613195,4,3,11,1,"ADAMTS17",0.86,67,"同义",13303,"0.53=8/15",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17840",6,4,0.67,{"$nulls":3},"A有","12308A","ADAMTS17","chr15:100821576","c.647G>A(E4)","p.216,S>L","rs7496668",0.48,0.49,0.5,0.49,0.4,0.54,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,11,1,"ADAMTS17",0.86,67,"错义",12210,"0.67=6/9",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27684",3,3,1,{"$nulls":3},"A有","12308A","ADAMTS18","chr16:77317591","m.4347T>C(E23)","非编码区","rs889706",0.18,0.19,0.23,0.14,null,null,"纯合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"非编码区",14200,"1.00=3/3",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27682",26,26,1,{"$nulls":3},"A有","12308A","ADAMTS18","chr16:77317756","m.4182G>A(E23)","非编码区","rs889707",0.17,0.18,0.22,0.14,null,null,"纯合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"非编码区",14200,"1.00=37/37",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27687",63,62,0.98,{"$nulls":3},"A有","12308A","ADAMTS18","chr16:77323235","c.3476C>G(E22)","p.1159,S>T","rs3743749",0.18,0.2,0.24,0.16,0.19,0.22,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"错义",12220,"0.99=106/107",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27683",34,34,1,{"$nulls":3},"A有","12308A","ADAMTS18","chr16:77353973","c.2305G>T(E16)","p.769,L>I","rs9930984",0.63,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"错义",12220,"1.00=52/52",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27681",155,154,0.99,{"$nulls":3},"A有","12308A","ADAMTS18","chr16:77359919","c.1876A>T(E13)","p.626,L>I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,150,"错义",12220,"0.99=246/248",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27686",120,53,0.44,{"$nulls":3},"A有","12308A","ADAMTS18","chr16:77389956","c.1341A>G(E9)","p.447,D>D","rs8059275",0.88,0.88,0.87,0.9,0.91,0.91,"杂合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,7,1,"ADAMTS18",1,150,"同义",13203,"0.45=88/195",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27685",71,30,0.42,{"$nulls":3},"A有","12308A","ADAMTS18","chr16:77401545","c.571A>G(E4)","p.191,Y>H","rs11643211",0.37,0.56,0.57,0.55,0.58,0.57,"杂合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,7,1,"ADAMTS18",1,150,"错义",12220,"0.45=50/111",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21102",146,146,1,{"$nulls":3},"A有","12308A","ADAMTS19","chr5:128863471","c.1099A>G(E5)","p.367,S>G","rs6595908",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS19",0.88,190,"错义",12220,"1.00=270/270",null,171019,"5q23.3","NM_133638.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21104",88,47,0.53,{"$nulls":3},"A有","12308A","ADAMTS19","chr5:129015452","IVS16-5T>C","剪切位点","rs30645",0.32,0.2,0.22,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS19",0.88,190,"剪切位点",16202,"0.52=73/140",null,171019,"5q23.3","NM_133638.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21103",57,57,1,{"$nulls":3},"A有","12308A","ADAMTS19","chr5:129072943","m.3656G>T(E23)","非编码区","rs1465686",0.95,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS19",0.88,190,"非编码区",14200,"1.00=89/89",null,171019,"5q23.3","NM_133638.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24693",3,3,1,{"$nulls":3},"A有","12308A","ADAMTS2","chr5:178540656","m.3950T>G(E22)","非编码区","rs10479525",0.52,0.62,0.61,0.63,null,null,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,3,1,"ADAMTS2",0.85,33,"非编码区",14200,"1.00=5/5",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24692",5,5,1,{"$nulls":3},"A有","12308A","ADAMTS2","chr5:178634619","c.786C>T(E4)","p.262,A>A","rs423552",0.92,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,3,1,"ADAMTS2",0.85,33,"同义",13203,"1.00=6/6",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24691",2,2,1,{"$nulls":3},"A有","12308A","ADAMTS2","chr5:178634672","c.733C>T(E4)","p.245,V>I","rs398829",0.43,0.63,0.68,0.59,0.53,0.66,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,3,1,"ADAMTS2",0.85,33,"错义",12220,"1.00=3/3",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5417",251,114,0.45,{"$nulls":3},"A有","12308A","ADAMTS20","chr12:43860526","c.1296A>G(E9)","p.432,P>P","rs11182088",0.43,0.79,0.82,0.77,0.74,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS20",1,250,"同义",13203,"0.44=214/486",null,80070,"12q12","NM_025003.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11145",117,116,0.99,{"$nulls":3},"A有","12308A","ADAMTS3","chr4:73414286","c.413C>T(E3)","p.138,R>K","rs788908",0.64,0.66,0.65,0.68,0.67,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS3",1,200,"错义",12220,"0.99=197/199",null,9508,"4q13.3","NM_014243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11146",144,134,0.93,{"$nulls":3},"A有","12308A","ADAMTS3","chr4:73433123-73433123","IVS1-5:缺失A","非编码区","rs33925079",0.42,0.45,0.4,0.51,0.075,0.45,"纯合","无关","内含子突变",{"$nulls":4},5,null,3,0,"ADAMTS3",1,200,"非编码区",2500,"0.94=149/159",null,9508,"4q13.3","NM_014243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11147",143,134,0.94,{"$nulls":3},"A有","12308A","ADAMTS3","chr4:73433123-73433124","IVS1-5至IVS1-6:缺失AA插入G","非编码区","rs33925079,rs398092497",{"$nulls":6},"纯合","无关","内含子突变",{"$nulls":4},5,null,3,0,"ADAMTS3",1,200,"非编码区",2500,"0.94=149/158",null,9508,"4q13.3","NM_014243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21265",15,15,1,{"$nulls":3},"A有","12308A","ADAMTS4","chr1:161163037","c.1877T>C(E7)","p.626,Q>R","rs4233367",0.71,0.88,0.89,0.88,0.83,0.9,"纯合","无关","有rs号，MAF>=5%",19064571,{"$nulls":3},5,null,2,0,"ADAMTS4",0.99,34,"错义",12220,"1.00=22/22",null,9507,"1q21-q23","NM_005099.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21264",7,6,0.86,{"$nulls":3},"A有","12308A","ADAMTS4","chr1:161168004","c.414C>T(E1)","p.138,S>S","rs33941127",0.37,0.47,0.46,0.47,0.49,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS4",0.99,34,"同义",13203,"0.86=12/14",null,9507,"1q21-q23","NM_005099.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7726",27,14,0.52,{"$nulls":3},"A有","12308A","ADAMTS5","chr21:28296324","m.3570A>G(E8)","非编码区","rs151065",0.78,0.48,0.49,0.47,null,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS5",0.86,110,"非编码区",14200,"0.46=18/39",null,11096,"21q21.3","NM_007038.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7725",101,35,0.35,{"$nulls":3},"A有","12308A","ADAMTS5","chr21:28302355","c.2075A>G(E7)","p.692,L>P","rs226794",0.81,0.48,0.49,0.47,0.42,0.47,"杂合","无关","有rs号，MAF>=5%","18240210;23491141",{"$nulls":3},5,null,2,0,"ADAMTS5",0.86,110,"错义",12220,"0.33=51/154",null,11096,"21q21.3","NM_007038.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17912",101,50,0.5,{"$nulls":3},"A有","12308A","ADAMTS6","chr5:64447777","IVS24-5C>T","剪切位点","rs17206779",0.38,0.4,0.4,0.39,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS6",1,240,"剪切位点",16202,"0.47=84/178",null,11174,"5q12","NM_197941.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3846",5,3,0.6,{"$nulls":3},"A有","12308A","ADAMTS7","chr15:79054900","c.4748C>G(E23)","p.1583,G>A","rs7495616",0.67,0.59,0.6,0.57,0.49,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.87,17,"错义",12220,"0.62=5/8",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3843",5,5,1,{"$nulls":3},"A有","12308A","ADAMTS7","chr15:79058572","c.3681T>G(E19)","p.1227,R>R","rs1809421",null,0.98,0.99,0.98,0.88,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"ADAMTS7",0.87,17,"同义",13303,"1.00=7/7",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3845",2,2,1,{"$nulls":3},"A有","12308A","ADAMTS7","chr15:79058923","c.3330G>A(E19)","p.1110,P>P","rs1809422",0.95,0.92,0.91,0.93,0.77,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.87,17,"同义",13203,"1.00=3/3",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3847",10,7,0.7,{"$nulls":3},"A有","12308A","ADAMTS7","chr15:79066581","c.1938G>A(E13)","p.646,D>D","rs74405922",0.1,0.36,0.36,0.37,0.35,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.87,17,"同义",13203,"0.53=10/19",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3842",26,10,0.38,{"$nulls":3},"A有","12308A","ADAMTS7","chr15:79083120","c.920G>A(E6)","p.307,T>M","rs2127898",{"$nulls":4},0.35,0.32,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"ADAMTS7",0.87,17,"错义",12310,"0.37=17/46",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3844",21,21,1,{"$nulls":3},"A有","12308A","ADAMTS7","chr15:79089007","c.744T>C(E4)","p.248,V>V","rs3743057",0.79,0.88,0.87,0.88,0.85,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.87,17,"同义",13203,"1.00=40/40",null,11173,"15q24.2","NM_014272.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18510",32,32,1,{"$nulls":3},"A有","12308A","ADAMTS8","chr11:130281488","c.1574G>A(E6)","p.525,A>V","rs2131535",0.74,0.83,0.83,0.83,0.77,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS8",0.82,26,"错义",12220,"0.98=52/53",null,11095,"11q25","NM_007037.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28249",72,72,1,{"$nulls":3},"A有","12308A","ADAMTS9","chr3:64532476","c.5022G>C(E32)","p.1674,D>E","rs6787633",0.13,0.23,0.23,0.22,0.22,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS9",1,170,"错义",12220,"1.00=113/113",null,56999,"3p14.1","NM_182920.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19715",18,18,1,{"$nulls":3},"A有","12308A","ADAMTSL1","chr9:18504916","c.153T>A(E2)","p.51,G>G","rs2277160",0.57,0.44,0.4,0.48,0.41,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTSL1",0.99,89,"同义",13203,"0.97=33/34",null,92949,"9p21.3","NM_001040272.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19713",109,108,0.99,{"$nulls":3},"A有","12308A","ADAMTSL1","chr9:18681821","c.1353A>G(E12)","p.451,T>T","rs13293151",0.28,0.27,0.31,0.22,0.29,0.28,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTSL1",0.99,89,"同义",13203,"0.99=151/152",null,92949,"9p21.3","NM_001040272.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19714",133,61,0.46,{"$nulls":3},"A有","12308A","ADAMTSL1","chr9:18775810","c.2467C>A(E18)","p.823,L>I","rs934472",0.44,0.47,0.48,0.47,0.46,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTSL1",0.99,89,"错义",12220,"0.41=99/242",null,92949,"9p21.3","NM_001040272.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19712",2,2,1,{"$nulls":3},"A有","12308A","ADAMTSL1","chr9:18776840","c.2613A>C(E19)","p.871,I>I","rs1549986",0.97,1,1,1,0.8,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTSL1",0.99,89,"同义",13203,"1.00=3/3",null,92949,"9p21.3","NM_001040272.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19716",67,36,0.54,{"$nulls":3},"A有","12308A","ADAMTSL1","chr9:18887908","c.4329G>C(E24)","p.1443,L>L","rs75551645",0.049,0.14,0.16,0.12,0.12,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ADAMTSL1",0.99,89,"同义",13103,"0.57=69/121",null,92949,"9p21.3","NM_001040272.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23670",66,66,1,{"$nulls":3},"A有","12308A","ADAMTSL3","chr15:84488636","c.437A>G(E6)","p.146,H>R","rs4483821",0.68,0.8,0.79,0.81,0.8,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"错义",12220,"1.00=98/98",null,57188,"15q25.2","NM_207517.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23667",290,289,1,{"$nulls":3},"A有","12308A","ADAMTSL3","chr15:84539619","c.868C>G(E9)","p.290,L>V","rs4144691",0.81,0.72,0.7,0.75,0.76,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"错义",12220,"0.99=503/506",null,57188,"15q25.2","NM_207517.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23666",19,19,1,{"$nulls":3},"A有","12308A","ADAMTSL3","chr15:84581889","c.1746G>A(E16)","p.582,P>P","rs12439867",0.39,0.34,0.31,0.37,0.34,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"同义",13203,"1.00=22/22",null,57188,"15q25.2","NM_207517.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23668",21,21,1,{"$nulls":3},"A有","12308A","ADAMTSL3","chr15:84581904","c.1761T>C(E16)","p.587,R>R","rs4842923",0.69,0.72,0.69,0.74,0.72,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"同义",13203,"1.00=27/27",null,57188,"15q25.2","NM_207517.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23669",27,27,1,{"$nulls":3},"A有","12308A","ADAMTSL3","chr15:84582124","c.1981G>T(E16)","p.661,V>L","rs4842838",0.69,0.72,0.69,0.74,0.73,0.74,"纯合","无关","有rs号，MAF>=5%","19343178;20189936",{"$nulls":3},5,null,6,0,"ADAMTSL3",1,160,"错义",12220,"1.00=43/43",null,57188,"15q25.2","NM_207517.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23671",42,42,1,{"$nulls":3},"A有","12308A","ADAMTSL3","chr15:84651290","c.2910T>C(E21)","p.970,H>H","rs7176737",0.87,0.95,0.93,0.98,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTSL3",1,160,"同义",13203,"1.00=53/53",null,57188,"15q25.2","NM_207517.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9409",46,22,0.48,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",1,32,"错义",12220,"0.48=34/71",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9409",46,22,0.48,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",1,32,"错义",12220,"0.48=34/71",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9410",3,2,0.67,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",1,32,"同义",13203,"0.60=3/5",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9410",3,2,0.67,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",1,32,"同义",13203,"0.60=3/5",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9407",7,2,0.29,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",1,32,"同义",13203,"0.38=3/8",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9407",7,2,0.29,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",1,32,"同义",13203,"0.38=3/8",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9408",8,8,1,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150531050","c.2484G>A(E15)","p.828,P>P","rs10749657",0.88,0.98,0.99,0.98,0.93,0.97,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",1,32,"同义",13203,"1.00=12/12",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9408",8,8,1,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150531050","c.2484G>A(E15)","p.828,P>P","rs10749657",0.88,0.98,0.99,0.98,0.93,0.97,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",1,32,"同义",13203,"1.00=12/12",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9406",16,16,1,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150531170","c.2604C>T(E15)","p.868,H>H","rs10749658",0.92,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",1,32,"同义",13203,"1.00=27/27",null,54507,"1q21.3","NM_025008.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9406",16,16,1,{"$nulls":3},"A有","12308A","ADAMTSL4","chr1:150531170","c.2604C>T(E15)","p.868,H>H","rs10749658",0.92,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",1,32,"同义",13203,"1.00=27/27",null,54507,"1q21.3","NM_025008.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26948",6,4,0.67,{"$nulls":3},"A有","12308A","ADAMTSL5","chr19:1506771","c.1009C>G(E10)","p.337,V>L",{"$nulls":5},0.0012,0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ADAMTSL5",0.9,11,"错义",12420,"0.71=5/7",null,339366,"19p13.3","NM_213604.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30586",5,4,0.8,{"$nulls":3},"A有","12308A","ADAP1","chr7:940181","c.721C>T(E7)","p.241,G>S","rs10256887",0.87,0.88,0.89,0.88,0.79,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAP1",0.93,21,"错义",12230,"0.83=5/6",null,11033,"7p22.3","NM_006869.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30585",8,6,0.75,{"$nulls":3},"A有","12308A","ADAP1","chr7:959692","IVS3-5G>A","剪切位点","rs6962883",0.12,0.25,0.25,0.26,0.22,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAP1",0.93,21,"剪切位点",16202,"0.80=12/15",null,11033,"7p22.3","NM_006869.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2821",77,44,0.57,{"$nulls":3},"A有","12308A","ADAR","chr1:154557685","IVS14+8C>T","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.56,0.54,"杂合","无关","有rs号，MAF>=5%",null,"遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,100,"非编码区",16203,"0.54=65/120",null,103,"1q21.3","NM_001025107.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2821",77,44,0.57,{"$nulls":3},"A有","12308A","ADAR","chr1:154557685","IVS14+8C>T","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.56,0.54,"杂合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,4,2,"ADAR",1,100,"非编码区",16203,"0.54=65/120",null,103,"1q21.3","NM_001025107.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2819",42,42,1,{"$nulls":3},"A有","12308A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"纯合","无关","有rs号，MAF>=5%","19434718;21939710","遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,100,"错义",12220,"1.00=59/59",null,103,"1q21.3","NM_001025107.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2819",42,42,1,{"$nulls":3},"A有","12308A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"纯合","无关","有rs号，MAF>=5%","19434718;21939710","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,100,"错义",12220,"1.00=59/59",null,103,"1q21.3","NM_001025107.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2822",52,51,0.98,{"$nulls":3},"A有","12308A","ADAR","chr1:154574820","c.298T>C(E2)","p.100,R>G","rs1466731",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,100,"错义",12230,"0.99=92/93",null,103,"1q21.3","NM_001111.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2822",52,51,0.98,{"$nulls":3},"A有","12308A","ADAR","chr1:154574820","c.298T>C(E2)","p.100,R>G","rs1466731",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,100,"错义",12230,"0.99=92/93",null,103,"1q21.3","NM_001111.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2820",18,18,1,{"$nulls":3},"A有","12308A","ADAR","chr1:154575040","c.78C>T(E2)","p.26,R>R","rs1802645",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,100,"同义",13203,"1.00=21/21",null,103,"1q21.3","NM_001111.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2820",18,18,1,{"$nulls":3},"A有","12308A","ADAR","chr1:154575040","c.78C>T(E2)","p.26,R>R","rs1802645",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,100,"同义",13203,"1.00=21/21",null,103,"1q21.3","NM_001111.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27483",4,4,1,{"$nulls":3},"A有","12308A","ADARB2","chr10:1229009","m.2670G>A(E10)","非编码区","rs904960",0.65,0.7,0.72,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADARB2",0.83,27,"非编码区",14200,"1.00=4/4",null,105,"10p15.3","NM_018702.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27484",6,6,1,{"$nulls":3},"A有","12308A","ADARB2","chr10:1230968","c.1876C>T(E9)","p.626,A>T","rs2271275",0.54,0.65,0.65,0.66,0.58,0.68,"纯合","无关","有rs号，MAF>=5%",17544380,{"$nulls":3},5,null,2,0,"ADARB2",0.83,27,"错义",12220,"1.00=9/9",null,105,"10p15.3","NM_018702.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19315",84,49,0.58,{"$nulls":3},"A有","12308A","ADAT1","chr16:75634192","c.1431C>T(E11)","p.477,Q>Q","rs75248264",0.0024,0.014,0.0095,0.019,0.019,0.016,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAT1",1,140,"同义",13103,"0.59=78/133",null,23536,"16q23.1","NM_012091.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19314",81,81,1,{"$nulls":3},"A有","12308A","ADAT1","chr16:75646576","c.608G>T(E7)","p.203,T>N","rs3743599",0.27,0.74,0.73,0.75,0.72,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAT1",1,140,"错义",12220,"0.99=144/146",null,23536,"16q23.1","NM_012091.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19313",22,22,1,{"$nulls":3},"A有","12308A","ADAT1","chr16:75646685","c.499G>T(E7)","p.167,H>N","rs3743598",0.57,0.81,0.82,0.81,0.78,0.83,"纯合","无关","有rs号，MAF>=5%",16251468,{"$nulls":3},5,null,3,0,"ADAT1",1,140,"错义",12220,"1.00=28/28",null,23536,"16q23.1","NM_012091.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12552",4,2,0.5,{"$nulls":3},"A有","12308A","ADAT2","chr6:143749295","m.927G>T(E6)","非编码区","rs1065355",0.2,0.17,0.17,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAT2",1,210,"非编码区",14200,"0.22=2/9",null,134637,"6q24.2","NM_182503.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8180",49,16,0.33,{"$nulls":3},"A有","12308A","ADCK1","chr14:78285462-78285462","IVS2+6:缺失T","非编码区","rs3214433",0.56,0.49,0.45,0.52,0.093,0.51,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"ADCK1",1,63,"非编码区",2500,"0.31=18/59",null,57143,"14q24.3","NM_001142545.1","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12308A(99)v31169",24,11,0.46,{"$nulls":3},"A有","12308A","ADCK3","chr1:227152761","c.238C>T(E3)","p.80,H>Y","rs76249490",0.016,0.065,0.057,0.073,0.047,0.05,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,3,3,6,1,"ADCK3",0.98,42,"错义",12120,"0.49=18/37",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31166",22,11,0.5,{"$nulls":3},"A有","12308A","ADCK3","chr1:227152778","c.255T>G(E3)","p.85,H>Q","rs2297411",0.058,0.065,0.057,0.073,0.046,0.05,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,6,1,"ADCK3",0.98,42,"错义",12220,"0.51=19/37",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31170",55,19,0.35,{"$nulls":3},"A有","12308A","ADCK3","chr1:227172290","c.1440C>T(E12)","p.480,F>F","rs12593",0.24,0.2,0.23,0.17,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,6,1,"ADCK3",0.98,42,"同义",13203,"0.36=33/92",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31168",43,43,1,{"$nulls":3},"A有","12308A","ADCK3","chr1:227174145","IVS14-9T>C","剪切位点","rs7552783",0.35,0.24,0.25,0.24,0.22,0.22,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,1,6,1,"ADCK3",0.98,42,"剪切位点",16202,"1.00=64/64",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31172",50,50,1,{"$nulls":3},"A有","12308A","ADCK3","chr1:227174210","c.1716T>C(E15)","p.572,S>S","rs3738725",0.31,0.24,0.25,0.24,0.21,0.23,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,1,6,1,"ADCK3",0.98,42,"同义",13203,"0.98=81/83",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31171",38,22,0.58,{"$nulls":3},"A有","12308A","ADCK3","chr1:227174408","c.1914C>T(E15)","p.638,S>S","rs56043893",0.016,0.065,0.057,0.073,0.048,0.052,"杂合","未知","预测范围之外的同义突变",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,4,3,6,1,"ADCK3",0.98,42,"同义",13103,"0.58=26/45",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8679",12,12,1,{"$nulls":3},"A有","12308A","ADCK4","chr19:41211056","c.398T>C(E6)","p.133,H>R","rs3865452",0.48,0.45,0.41,0.49,0.36,0.47,"纯合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,1,1,1,"ADCK4",1,56,"错义",12220,"1.00=17/17",null,79934,"19q13.2","NM_001142555.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3749",24,11,0.46,{"$nulls":3},"A有","12308A","ADCK5","chr8:145603114","c.51A>C(E2)","p.17,R>S","rs6599528",0.63,0.66,0.7,0.62,0.59,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCK5",0.92,16,"错义",12220,"0.50=24/48",null,203054,"8q24.3","NM_174922.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21829",21,10,0.48,{"$nulls":3},"A有","12308A","ADCY10","chr1:167778843","m.4748G>A(E30)","非编码区","rs3213588",0.47,0.16,0.15,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,4,1,"ADCY10",1,180,"非编码区",14200,"0.47=15/32",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21831",76,37,0.49,{"$nulls":3},"A有","12308A","ADCY10","chr1:167815030","c.2319A>G(E18)","p.773,I>I","rs12048517",0.088,0.24,0.23,0.25,0.22,0.25,"杂合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,4,1,"ADCY10",1,180,"同义",13203,"0.43=56/129",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21828",89,87,0.98,{"$nulls":3},"A有","12308A","ADCY10","chr1:167817639","c.1938A>G(E16)","p.646,G>G","rs203795",0.82,0.85,0.82,0.87,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,4,1,"ADCY10",1,180,"同义",13203,"0.99=145/147",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21830",93,93,1,{"$nulls":3},"A有","12308A","ADCY10","chr1:167825485","c.1630T>C(E14)","p.544,I>V","rs2071921",0.5,0.7,0.68,0.71,0.65,0.71,"纯合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,4,1,"ADCY10",1,180,"错义",12220,"1.00=164/164",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3238",77,37,0.48,{"$nulls":3},"A有","12308A","ADCY2","chr5:7743787","c.1878C>T(E15)","p.626,S>S","rs62342477",0.32,0.053,0.057,0.049,0.065,0.061,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY2",0.94,150,"同义",13203,"0.54=70/130",null,108,"5p15.3","NM_020546.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17063",3,3,1,{"$nulls":3},"A有","12308A","ADCY3","chr2:25042625","m.3810C>G(E21)","非编码区","rs1044040",0.82,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"非编码区",14200,"1.00=4/4",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17067",33,33,1,{"$nulls":3},"A有","12308A","ADCY3","chr2:25046090","c.2871T>C(E17)","p.957,S>S","rs1127568",0.69,0.85,0.84,0.86,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"同义",13203,"1.00=56/56",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17066",51,29,0.57,{"$nulls":3},"A有","12308A","ADCY3","chr2:25047408","IVS15-3A>G","剪切位点","rs7604576",0.52,0.64,0.61,0.67,null,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"剪切位点",16202,"0.59=41/70",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17062",15,15,1,{"$nulls":3},"A有","12308A","ADCY3","chr2:25050977","c.2226T>C(E13)","p.742,E>E","rs7566416",0.66,0.85,0.84,0.86,0.79,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"同义",13203,"1.00=23/23",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17064",19,19,1,{"$nulls":3},"A有","12308A","ADCY3","chr2:25064193","c.1131G>A(E5)","p.377,P>P","rs2241759",0.51,0.74,0.72,0.75,0.71,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY3",1,60,"同义",13203,"1.00=32/32",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17065",47,22,0.47,{"$nulls":3},"A有","12308A","ADCY3","chr2:25141538","c.319A>G(E1)","p.107,S>P","rs11676272",0.57,0.42,0.42,0.42,0.39,0.43,"杂合","无关","有rs号，MAF>=5%",25044758,{"$nulls":3},5,null,6,0,"ADCY3",1,60,"错义",12220,"0.49=41/84",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3202",38,38,1,{"$nulls":3},"A有","12308A","ADCY4","chr14:24793600","IVS14-3G>A","剪切位点","rs1884366",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY4",0.95,54,"剪切位点",16202,"1.00=61/61",null,196883,"14q12","NM_001198568.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3201",39,38,0.97,{"$nulls":3},"A有","12308A","ADCY4","chr14:24795495","IVS11+10G>A","非编码区","rs17256902",0.3,0.55,0.54,0.55,0.48,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY4",0.95,54,"非编码区",16203,"0.96=51/53",null,196883,"14q12","NM_001198568.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28277",3,3,1,{"$nulls":3},"A有","12308A","ADCY5","chr3:123018963","IVS15+4A>G","剪切位点","rs4482616",0.81,0.89,0.9,0.89,0.85,0.88,"纯合","无关","有rs号，MAF>=5%",null,"家族性运动障碍性面部肌纤维颤搐症","AD",606703,5,1,2,1,"ADCY5",0.8,40,"剪切位点",16202,"1.00=4/4",null,111,"3q21.1","NM_001199642.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28276",12,6,0.5,{"$nulls":3},"A有","12308A","ADCY5","chr3:123051444","c.435G>A(E4)","p.145,N>N",{"$nulls":5},0.00075,0,"杂合","未知","预测范围之外的同义突变",null,"家族性运动障碍性面部肌纤维颤搐症","AD",606703,4,1,2,1,"ADCY5",0.8,40,"同义",13403,"0.57=12/21",null,111,"3q21.1","NM_001199642.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24037",24,24,1,{"$nulls":3},"A有","12308A","ADCY7","chr16:50326661","c.612A>G(E4)","p.204,A>A","rs8051594",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY7",1,42,"同义",13203,"1.00=40/40",null,113,"16q12.1","NM_001114.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21649",97,41,0.42,{"$nulls":3},"A有","12308A","ADCY8","chr8:131921956","c.1638A>G(E6)","p.546,P>P","rs12547243",0.54,0.65,0.7,0.59,0.64,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY8",0.92,110,"剪切位点",13202,"0.38=60/159",null,114,"8q24","NM_001115.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7839",28,16,0.57,{"$nulls":3},"A有","12308A","ADCY9","chr16:4015729","m.4648C>T(E11)","非编码区","rs879620",0.34,0.29,0.28,0.3,null,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,63,"非编码区",14200,"0.61=27/44",null,115,"16p13.3","NM_001116.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7838",22,22,1,{"$nulls":3},"A有","12308A","ADCY9","chr16:4016676","c.3162A>G(E11)","p.1054,H>H","rs2230742",0.73,0.85,0.85,0.85,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,63,"同义",13203,"1.00=41/41",null,115,"16p13.3","NM_001116.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7836",15,15,1,{"$nulls":3},"A有","12308A","ADCY9","chr16:4027605","c.2706C>T(E9)","p.902,A>A","rs2240735",0.47,0.54,0.54,0.53,0.47,0.53,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,63,"同义",13203,"1.00=26/26",null,115,"16p13.3","NM_001116.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7837",42,42,1,{"$nulls":3},"A有","12308A","ADCY9","chr16:4033436","c.2316T>C(E7)","p.772,I>M","rs2230739",0.26,0.4,0.4,0.39,0.41,0.49,"纯合","无关","有rs号，MAF>=5%","20386734;20459687;24934404",{"$nulls":3},5,null,5,0,"ADCY9",1,63,"错义",12220,"1.00=75/75",null,115,"16p13.3","NM_001116.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7835",48,48,1,{"$nulls":3},"A有","12308A","ADCY9","chr16:4164364","c.1080C>T(E2)","p.360,R>R","rs2230738",0.32,0.62,0.59,0.66,0.63,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,63,"同义",13203,"1.00=79/79",null,115,"16p13.3","NM_001116.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17481",82,47,0.57,{"$nulls":3},"A有","12308A","ADD1","chr4:2906707","c.1378G>T(E10)","p.460,G>W","rs4961",0.21,0.5,0.46,0.54,0.5,0.48,"杂合","无关","有rs号，MAF>=5%","18279468;18398333;18513389;18660489;18787518;19131662;19199261;19263529;19330901;19379518;19559392;19574959;19838659;19927152;19960031;20145305;20565774;21194526;21291465;21339657;22198647;22810272","原发性高血压",null,145500,5,2,2,1,"ADD1",1,130,"错义",12210,"0.52=70/135",null,118,"4p16.3","NM_001119.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17480",51,26,0.51,{"$nulls":3},"A有","12308A","ADD1","chr4:2916762","c.1757C>G(E13)","p.586,S>C","rs4963",0.24,0.5,0.46,0.54,0.48,0.48,"杂合","无关","有rs号，MAF>=5%",19574959,"原发性高血压",null,145500,5,2,2,1,"ADD1",1,130,"错义",12220,"0.51=46/90",null,118,"4p16.3","NM_001119.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10176",153,86,0.56,{"$nulls":3},"A有","12308A","ADGB","chr6:147049868","c.2511G>A(E20)","p.837,Q>Q","rs3747756",0.3,0.42,0.44,0.41,0.38,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADGB",1,260,"同义",13203,"0.53=131/248",null,79747,"6q24.3","NM_024694.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10177",91,91,1,{"$nulls":3},"A有","12308A","ADGB","chr6:147106841","c.4308A>G(E32)","p.1436,K>K","rs259391",0.55,0.4,0.38,0.42,0.45,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADGB",1,260,"同义",13203,"1.00=154/154",null,79747,"6q24.3","NM_024694.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31041",179,78,0.44,{"$nulls":3},"A有","12308A","ADH1B","chr4:100228945","m.1264T>C(E9)","非编码区","rs17033",0.11,0.1,0.071,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",null,"酒精依赖症",null,103780,5,2,3,1,"ADH1B",1,340,"非编码区",14200,"0.44=140/319",null,125,"4q23","NM_000668.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31040",241,237,0.98,{"$nulls":3},"A有","12308A","ADH1B","chr4:100235053","c.753A>G(E6)","p.251,I>I","rs1789882",0.83,0.95,0.96,0.94,0.88,0.91,"纯合","无关","有rs号，MAF>=5%",19193628,"酒精依赖症",null,103780,5,1,3,1,"ADH1B",1,340,"同义",13203,"0.97=392/403",null,125,"4q23","NM_000668.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31039",161,88,0.55,{"$nulls":3},"A有","12308A","ADH1B","chr4:100239319","c.143T>C(E3)","p.48,H>R","rs1229984",0.84,0.27,0.24,0.29,0.32,0.27,"杂合","无关","有rs号，MAF>=5%","12050823;16255080;16685648;17185388;17273965;18331377;18382665;18500343;18518925;18936436;18996923;19193628;19262484;19298322;19486361;19526455;19687126;19698717;19737746;19861527;20089146;20158305;20205700;20219057;20700531;20833657;21303386;21351086;21372407;21378355;21437268;21497796;21576033;21895720;21900886;21917409;21926110;21940907;21968928;22144473;22150722;22325912;22560290;22674868;22690706;22930414;23088731;23149980;23414439;23430454;23456092;23743675;23806636;23895337;23969552;24018899;24065783;24093763;24114820;24282520;24553426;24633362;24716453;24735490;25047496;25133033;25192829","酒精依赖症",null,103780,5,2,3,1,"ADH1B",1,340,"错义",12220,"0.55=153/277",null,125,"4q23","NM_000668.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9454",73,35,0.48,{"$nulls":3},"A有","12308A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"杂合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","酒精依赖症",null,103780,5,2,2,2,"ADH1C",1,320,"同义",13203,"0.49=54/111",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9454",73,35,0.48,{"$nulls":3},"A有","12308A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"杂合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","迟发型帕金森病（易感）",null,168600,5,2,2,2,"ADH1C",1,320,"同义",13203,"0.49=54/111",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9455",137,137,1,{"$nulls":3},"A有","12308A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","酒精依赖症",null,103780,5,1,2,2,"ADH1C",1,320,"加长",15200,"1.00=217/218",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9455",137,137,1,{"$nulls":3},"A有","12308A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","迟发型帕金森病（易感）",null,168600,5,1,2,2,"ADH1C",1,320,"加长",15200,"1.00=217/218",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2737",90,90,1,{"$nulls":3},"A有","12308A","ADH4","chr4:100045500","m.1312T>G(E9)","非编码区","rs1042365",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADH4",1,210,"非编码区",14200,"0.99=153/155",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2736",142,142,1,{"$nulls":3},"A有","12308A","ADH4","chr4:100045574","m.1238T>C(E9)","非编码区","rs1042364",0.88,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADH4",1,210,"非编码区",14200,"1.00=235/236",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2733",147,71,0.48,{"$nulls":3},"A有","12308A","ADH4","chr4:100045615","c.1121A>C(E9)","p.374,V>G","rs56251804",2E-3,0.0048,0.0095,0,0.0011,0.009,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"ADH4",1,210,"错义",12110,"0.47=115/244",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2731",147,147,1,{"$nulls":3},"A有","12308A","ADH4","chr4:100045616","c.1120C>T(E9)","p.374,V>I","rs1126673",0.85,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,7,0,"ADH4",1,210,"错义",12220,"1.00=244/244",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2735",143,143,1,{"$nulls":3},"A有","12308A","ADH4","chr4:100048414","c.925T>C(E7)","p.309,I>V","rs1126671",0.85,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","16220108;16685648;17069770;17185388;17273965;18331377;19193628;19298322;19925625",{"$nulls":3},5,null,7,0,"ADH4",1,210,"错义",12220,"1.00=225/225",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2734",192,191,0.99,{"$nulls":3},"A有","12308A","ADH4","chr4:100052733","c.765C>A(E6)","p.255,P>P","rs1126670",0.85,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","16685648;17069770;17185388;19193628;19298322",{"$nulls":3},5,null,7,0,"ADH4",1,210,"同义",13203,"0.99=319/321",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2732",107,107,1,{"$nulls":3},"A有","12308A","ADH4","chr4:100062819","c.135A>G(E3)","p.45,S>S","rs2032349",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,7,0,"ADH4",1,210,"同义",13203,"1.00=175/175",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31291",127,127,1,{"$nulls":3},"A有","12308A","ADH6","chr4:100140306","c.4A>T(E1)","p.2,C>S","rs4699735",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADH6",1,210,"错义",12230,"1.00=206/207",null,130,"4q23","NM_000672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13087",5,3,0.6,{"$nulls":3},"A有","12308A","ADH7","chr4:100333977","m.1730T>A(E9)","非编码区","rs284786",0.44,0.59,0.57,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADH7",1,230,"非编码区",14200,"0.78=7/9",null,131,"4q23-q24","NM_000673.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18359",179,102,0.57,{"$nulls":3},"A有","12308A","ADHFE1","chr8:67380528","c.1345T>C(E14)","p.449,C>R","rs1060242",0.58,0.36,0.36,0.36,0.39,0.41,"杂合","无关","有rs号，MAF>=5%",17708757,{"$nulls":3},5,null,2,0,"ADHFE1",1,250,"错义",12220,"0.60=189/316",null,137872,"8q13.1","NM_144650.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18358",49,25,0.51,{"$nulls":3},"A有","12308A","ADHFE1","chr8:67380677","m.1528C>T(E14)","非编码区","rs13682",0.58,0.36,0.36,0.36,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADHFE1",1,250,"非编码区",14200,"0.54=37/69",null,137872,"8q13.1","NM_144650.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8582",19,6,0.32,{"$nulls":3},"A有","12308A","ADI1","chr2:3502625","m.741T>C(E4)","非编码区","rs1130127",0.34,0.17,0.14,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADI1",0.78,100,"非编码区",14200,"0.35=8/23",null,55256,"2p25.3","NM_018269.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8581",35,18,0.51,{"$nulls":3},"A有","12308A","ADI1","chr2:3502709","m.657A>G(E4)","非编码区","rs10208494",0.34,0.17,0.15,0.19,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADI1",0.78,100,"非编码区",14200,"0.56=30/54",null,55256,"2p25.3","NM_018269.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8583",94,38,0.4,{"$nulls":3},"A有","12308A","ADI1","chr2:3504687","c.318A>G(E3)","p.106,D>D","rs9950",0.53,0.45,0.45,0.46,0.41,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADI1",0.78,100,"同义",13203,"0.40=68/168",null,55256,"2p25.3","NM_018269.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11065",30,30,1,{"$nulls":3},"A有","12308A","ADIPOR1","chr1:202920300","IVS1-8A>C","剪切位点","rs2275737",0.64,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADIPOR1",1,160,"剪切位点",16202,"1.00=45/45",null,51094,"1q32.1","NM_015999.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7269",73,32,0.44,{"$nulls":3},"A有","12308A","ADIPOR2","chr12:1893170","c.963C>T(E7)","p.321,Y>Y","rs9805042",0.24,0.11,0.13,0.083,0.064,0.091,"杂合","无关","有rs号，MAF>=5%","17216283;20178558",{"$nulls":3},5,null,2,0,"ADIPOR2",1,140,"同义",13203,"0.41=47/114",null,79602,"12p13.31","NM_024551.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7268",27,27,1,{"$nulls":3},"A有","12308A","ADIPOR2","chr12:1895373","m.1493T>G(E8)","非编码区","rs758169",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADIPOR2",1,140,"非编码区",14200,"1.00=28/28",null,79602,"12p13.31","NM_024551.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3385",18,18,1,{"$nulls":3},"A有","12308A","ADNP","chr20:49507892","m.3704T>G(E5)","非编码区","rs761240",0.97,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神智力发育迟滞28型","AD",615873,5,1,1,1,"ADNP",1,140,"非编码区",14200,"1.00=20/20",null,23394,"20q13.13","NM_015339.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11736",27,15,0.56,{"$nulls":3},"A有","12308A","ADNP2","chr18:77894844","c.1548G>A(E4)","p.516,P>P","rs3744877",0.42,0.54,0.6,0.48,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,94,"同义",13203,"0.56=23/41",null,22850,"18q23","NM_014913.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11735",26,14,0.54,{"$nulls":3},"A有","12308A","ADNP2","chr18:77896242","c.2946C>T(E4)","p.982,D>D","rs3826595",0.29,0.46,0.51,0.41,0.41,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,94,"同义",13203,"0.53=16/30",null,22850,"18q23","NM_014913.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30191",29,12,0.41,{"$nulls":3},"A有","12308A","ADORA1","chr1:203098275","c.306T>G(E3)","p.102,A>A","rs2228079",0.23,0.16,0.16,0.16,0.17,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADORA1",1,70,"同义",13203,"0.41=23/56",null,134,"1q32.1","NM_000674.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12687",12,12,1,{"$nulls":3},"A有","12308A","ADORA2A","chr22:24837301","c.1083T>C(E3)","p.361,Y>Y","rs5751876",0.44,0.5,0.47,0.52,0.44,0.51,"纯合","无关","有rs号，MAF>=5%","18305461;18759349;19565319;19591938;19902562;20334879;20386734;20396431;20520601;22012471;22336631;22940476;23018769;23332182;23535492",{"$nulls":3},5,null,1,0,"ADORA2A",1,28,"同义",13203,"1.00=18/18",null,135,"22q11.23","NM_000675.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26475",6,2,0.33,{"$nulls":3},"A有","12308A","ADORA3","chr1:112042383","m.1913G>A(E2)","非编码区","rs923",0.77,0.76,0.76,0.76,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADORA3",1,120,"非编码区",14200,"0.33=2/6",null,140,"1p13.2","NM_000677.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26473",47,25,0.53,{"$nulls":3},"A有","12308A","ADORA3","chr1:112042632","c.897A>G(E2)","p.299,A>A","rs2229155",0.77,0.76,0.76,0.76,0.75,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADORA3",1,120,"同义",13203,"0.55=37/67",null,140,"1p13.2","NM_000677.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27167",134,134,1,{"$nulls":3},"A有","12308A","ADPGK","chr15:73067234","c.438T>C(E2)","p.146,A>A","rs11634630",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADPGK",0.84,110,"同义",13203,"1.00=259/259",null,83440,"15q24.1","NM_031284.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14249",27,16,0.59,{"$nulls":3},"A有","12308A","ADPRH","chr3:119305169","c.336G>A(E4)","p.112,P>P","rs20569",0.2,0.26,0.25,0.27,0.29,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADPRH",1,74,"同义",13203,"0.60=24/40",null,141,"3q13.31-q13.33","NM_001125.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7230",74,74,1,{"$nulls":3},"A有","12308A","ADPRM","chr17:10614442","c.1010A>G(E4)","p.337,E>G","rs406446",0.49,0.4,0.41,0.38,0.37,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,170,"错义",12220,"1.00=119/119",null,56985,"17p13.1","NM_020233.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7231",4,4,1,{"$nulls":3},"A有","12308A","ADPRM","chr17:10614673","m.1316G>A(E4)","非编码区","rs445928",0.49,0.4,0.41,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,170,"非编码区",14200,"1.00=5/5",null,56985,"17p13.1","NM_020233.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28799",50,22,0.44,{"$nulls":3},"A有","12308A","ADRA1B","chr5:159344461","c.549G>A(E1)","p.183,G>G","rs3729604",0.2,0.33,0.3,0.35,0.32,0.37,"杂合","无关","有rs号，MAF>=5%",20008943,{"$nulls":3},5,null,1,0,"ADRA1B",0.69,32,"同义",13203,"0.37=31/83",null,147,"5q33.3","NM_000679.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25558",7,7,1,{"$nulls":3},"A有","12308A","ADRA1D","chr20:4202041","m.1903T>A(E2)","非编码区","rs2236554",0.34,0.33,0.36,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADRA1D",0.87,6.7,"非编码区",14200,"1.00=8/8",null,146,"20p13","NM_000678.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13546",7,4,0.57,{"$nulls":3},"A有","12308A","ADRB2","chr5:148206440","c.46G>A(E1)","p.16,G>R","rs1042713",0.48,0.58,0.61,0.55,0.49,0.55,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16741943;16935688;17143563;17150099;17199132;17512307;18191955;18304332;18482449;18513389;18534365;18599530;18603647;18615004;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19553224;19559392;19565482;19576569;19619703;19717003;19745160;19779622;20044476;20049212;20078877;20167428;20230274;20401335;20523301;20592916;21233812;21613201;21883537;22864926;22900502;22985077;23229623;23229733;23463918;23786226;24012958;24201779;24838642;24879436;24944790;24960039;25050782;25111792","哮喘，易感","AD",600807,5,1,3,2,"ADRB2",1,77,"错义",12230,"0.62=5/8",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13546",7,4,0.57,{"$nulls":3},"A有","12308A","ADRB2","chr5:148206440","c.46G>A(E1)","p.16,G>R","rs1042713",0.48,0.58,0.61,0.55,0.49,0.55,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16741943;16935688;17143563;17150099;17199132;17512307;18191955;18304332;18482449;18513389;18534365;18599530;18603647;18615004;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19553224;19559392;19565482;19576569;19619703;19717003;19745160;19779622;20044476;20049212;20078877;20167428;20230274;20401335;20523301;20592916;21233812;21613201;21883537;22864926;22900502;22985077;23229623;23229733;23463918;23786226;24012958;24201779;24838642;24879436;24944790;24960039;25050782;25111792","体重指数数量性状位点10",null,607514,5,2,3,2,"ADRB2",1,77,"错义",12230,"0.62=5/8",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13548",11,4,0.36,{"$nulls":3},"A有","12308A","ADRB2","chr5:148206473","c.79G>C(E1)","p.27,E>Q","rs1042714",0.8,0.92,0.95,0.89,0.82,0.91,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16600026;16642433;16741943;16935688;17143563;17150099;17199132;17512307;18279468;18304332;18513389;18534365;18599530;18603647;18611262;18615004;18625943;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19379518;19553224;19559392;19565482;19576569;19619703;19717003;19730237;19779622;20049212;20230274;20401335;20523301;20565774;20592916;21059181;21233812;21291465;21395649;21613201;21883537;22199155;22864926;22900502;22985077;23229623;23229733;23463918;23786226;23911093;24012958;24322328;24714117;24960039;25050782;25111792","哮喘，易感","AD",600807,5,1,3,2,"ADRB2",1,77,"错义",12230,"0.38=5/13",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13548",11,4,0.36,{"$nulls":3},"A有","12308A","ADRB2","chr5:148206473","c.79G>C(E1)","p.27,E>Q","rs1042714",0.8,0.92,0.95,0.89,0.82,0.91,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16600026;16642433;16741943;16935688;17143563;17150099;17199132;17512307;18279468;18304332;18513389;18534365;18599530;18603647;18611262;18615004;18625943;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19379518;19553224;19559392;19565482;19576569;19619703;19717003;19730237;19779622;20049212;20230274;20401335;20523301;20565774;20592916;21059181;21233812;21291465;21395649;21613201;21883537;22199155;22864926;22900502;22985077;23229623;23229733;23463918;23786226;23911093;24012958;24322328;24714117;24960039;25050782;25111792","体重指数数量性状位点10",null,607514,5,2,3,2,"ADRB2",1,77,"错义",12230,"0.38=5/13",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13547",62,26,0.42,{"$nulls":3},"A有","12308A","ADRB2","chr5:148207633","c.1239G>A(E1)","p.413,L>L","rs1042720",0.51,0.65,0.67,0.63,0.57,0.62,"杂合","无关","有rs号，MAF>=5%",19284637,"哮喘，易感","AD",600807,5,1,3,2,"ADRB2",1,77,"同义",13203,"0.38=38/99",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13547",62,26,0.42,{"$nulls":3},"A有","12308A","ADRB2","chr5:148207633","c.1239G>A(E1)","p.413,L>L","rs1042720",0.51,0.65,0.67,0.63,0.57,0.62,"杂合","无关","有rs号，MAF>=5%",19284637,"体重指数数量性状位点10",null,607514,5,2,3,2,"ADRB2",1,77,"同义",13203,"0.38=38/99",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18119",7,7,1,{"$nulls":3},"A有","12308A","ADRBK1","chr11:67050292","IVS14+3G>A","剪切位点","rs2071007",0.65,0.73,0.69,0.78,0.61,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADRBK1",0.97,32,"剪切位点",16202,"1.00=9/9",null,156,"11q13.1","NM_001619.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29393",23,23,1,{"$nulls":3},"A有","12308A","ADRM1","chr20:60881330","c.408G>A(E4)","p.136,A>A","rs2427273",0.82,0.97,0.98,0.97,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRM1",0.89,28,"同义",13203,"0.98=40/41",null,11047,"20q13.33","NM_007002.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29392",5,5,1,{"$nulls":3},"A有","12308A","ADRM1","chr20:60881780","c.531T>C(E5)","p.177,L>L","rs2427275",0.96,0.98,1,0.97,0.81,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRM1",0.89,28,"同义",13203,"1.00=8/8",null,11047,"20q13.33","NM_007002.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29390",3,3,1,{"$nulls":3},"A有","12308A","ADRM1","chr20:60882888","IVS7+4A>G","剪切位点","rs2427278",0.95,0.98,1,0.97,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRM1",0.89,28,"剪切位点",16201,"1.00=4/4",null,11047,"20q13.33","NM_007002.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13602",7,3,0.43,{"$nulls":3},"A有","12308A","ADSSL1","chr14:105196365","c.136T>C(E1)","p.46,L>L","rs33958252",0.61,0.63,0.62,0.64,0.52,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADSSL1",0.88,57,"同义",13203,"0.29=5/17",null,122622,"14q32.33","NM_199165.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13603",85,38,0.45,{"$nulls":3},"A有","12308A","ADSSL1","chr14:105211221","c.1146C>T(E11)","p.382,N>N","rs12432802",0.2,0.56,0.57,0.54,0.52,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADSSL1",0.88,57,"同义",13203,"0.46=71/153",null,122622,"14q32.33","NM_152328.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13604",66,30,0.45,{"$nulls":3},"A有","12308A","ADSSL1","chr14:105213343","m.1451A>G(E13)","非编码区","rs6644",0.69,0.65,0.65,0.66,0.62,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADSSL1",0.88,57,"非编码区",14200,"0.53=60/113",null,122622,"14q32.33","NM_152328.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11027",91,49,0.54,{"$nulls":3},"A有","12308A","ADTRP","chr6:11723636","c.658C>T(E6)","p.220,V>I","rs2076185",0.16,0.5,0.49,0.5,0.45,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADTRP",1,230,"错义",12220,"0.56=93/166",null,84830,"6p24.1","NM_001143948.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11026",19,9,0.47,{"$nulls":3},"A有","12308A","ADTRP","chr6:11779088","m.193C>T(E1)","非编码区","rs2076189",0.35,0.24,0.23,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADTRP",1,230,"非编码区",14200,"0.48=11/23",null,84830,"6p24.1","NM_001143948.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6670",7,4,0.57,{"$nulls":3},"A有","12308A","AEBP1","chr7:44147485","c.817C>A(E5)","p.273,P>T","rs2537188",0.36,0.27,0.27,0.27,0.21,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEBP1",0.99,49,"错义",12220,"0.64=7/11",null,165,"7p13","NM_001129.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6669",34,34,1,{"$nulls":3},"A有","12308A","AEBP1","chr7:44148553","c.996A>G(E7)","p.332,T>T","rs2595701",0.79,0.9,0.91,0.88,0.86,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEBP1",0.99,49,"同义",13203,"1.00=50/50",null,165,"7p13","NM_001129.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20749",103,56,0.54,{"$nulls":3},"A有","12308A","AEBP2","chr12:19615478","c.706A>G(E2)","p.236,I>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"AEBP2",0.78,180,"错义",12420,"0.50=82/163",null,121536,"12p12.3","NM_001114176.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20751",198,75,0.38,{"$nulls":3},"A有","12308A","AEBP2","chr12:19626205","c.903T>C(E3)","p.301,G>G","rs56666201",0.093,0.18,0.21,0.14,0.17,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AEBP2",0.78,180,"同义",13203,"0.35=137/389",null,121536,"12p12.3","NM_001114176.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20750",42,21,0.5,{"$nulls":3},"A有","12308A","AEBP2","chr12:19671083","m.1570C>T(E8)","非编码区","rs371899888",{"$nulls":5},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AEBP2",0.78,180,"非编码区",14300,"0.53=31/59",null,121536,"12p12.3","NM_153207.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v71",4,4,1,{"$nulls":3},"A有","12308A","AEN","chr15:89169858","c.418A>G(E2)","p.140,N>D","rs8027765",0.76,0.77,0.79,0.76,0.72,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AEN",1,14,"错义",12220,"1.00=7/7",null,64782,"15q26.1","NM_022767.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v73",16,16,1,{"$nulls":3},"A有","12308A","AEN","chr15:89172558","c.642G>C(E3)","p.214,T>T","rs3743475",0.75,0.77,0.79,0.76,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AEN",1,14,"同义",13203,"1.00=31/31",null,64782,"15q26.1","NM_022767.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v74",2,2,1,{"$nulls":3},"A有","12308A","AEN","chr15:89173657","m.1261A>T(E4)","非编码区","rs3826038",null,0.78,0.79,0.76,null,0.74,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"AEN",1,14,"非编码区",14300,"1.00=2/2",null,64782,"15q26.1","NM_022767.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v72",2,2,1,{"$nulls":3},"A有","12308A","AEN","chr15:89173732","m.1336T>C(E4)","非编码区","rs3743474",0.98,0.96,0.95,0.97,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AEN",1,14,"非编码区",14200,"1.00=2/2",null,64782,"15q26.1","NM_022767.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2336",5,5,1,{"$nulls":3},"A有","12308A","AFAP1","chr4:7765193","m.3017A>G(E18)","非编码区","rs2240054",0.27,0.41,0.41,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"非编码区",14200,"1.00=5/5",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2340",127,127,1,{"$nulls":3},"A有","12308A","AFAP1","chr4:7765495","c.2442G>T(E18)","p.814,T>T","rs2240053",0.24,0.4,0.4,0.4,0.42,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=209/209",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2337",57,57,1,{"$nulls":3},"A有","12308A","AFAP1","chr4:7770723","c.2266G>T(E17)","p.756,R>R","rs2285761",0.37,0.65,0.67,0.63,0.67,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=112/112",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2339",7,7,1,{"$nulls":3},"A有","12308A","AFAP1","chr4:7774610","c.2190C>T(E16)","p.730,A>A","rs2276967",0.18,0.44,0.44,0.45,0.36,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=7/7",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2338",77,77,1,{"$nulls":3},"A有","12308A","AFAP1","chr4:7783163","c.1722G>A(E13)","p.574,S>S","rs28542374",0.63,0.82,0.86,0.79,0.81,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=129/129",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2335",78,78,1,{"$nulls":3},"A有","12308A","AFAP1","chr4:7783286","c.1599G>A(E13)","p.533,N>N","rs10516189",0.21,0.49,0.48,0.5,0.46,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AFAP1",1,130,"同义",13203,"1.00=137/137",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30000",23,19,0.83,{"$nulls":3},"A有","12308A","AFAP1L2","chr10:116060194-116060195","IVS14+10至IVS14+9:插入G","非编码区","rs3214266",0.94,1,1,1,0.17,0.99,"杂合","无关","内含子突变",{"$nulls":4},5,null,4,0,"AFAP1L2",0.99,75,"非编码区",2500,"0.83=20/24",null,84632,"10q25.3","NM_001001936.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29999",33,32,0.97,{"$nulls":3},"A有","12308A","AFAP1L2","chr10:116060387","c.1605T>C(E14)","p.535,R>R","rs2286396",null,0.72,0.72,0.71,0.68,0.73,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"AFAP1L2",0.99,75,"同义",13303,"0.98=52/53",null,84632,"10q25.3","NM_001001936.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29998",38,37,0.97,{"$nulls":3},"A有","12308A","AFAP1L2","chr10:116073696","c.726C>T(E7)","p.242,T>T","rs3813722",0.58,0.9,0.88,0.91,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AFAP1L2",0.99,75,"同义",13203,"0.98=56/57",null,84632,"10q25.3","NM_001001936.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29997",28,28,1,{"$nulls":3},"A有","12308A","AFAP1L2","chr10:116091555","IVS4+7T>C","非编码区","rs10787524",0.74,0.97,0.97,0.98,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AFAP1L2",0.99,75,"非编码区",16203,"1.00=41/41",null,84632,"10q25.3","NM_001001936.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27709",39,39,1,{"$nulls":3},"A有","12308A","AFF1","chr4:88056925","m.4004A>G(E21)","非编码区","rs342464",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AFF1",1,150,"非编码区",14200,"1.00=58/58",null,4299,"4q21","NM_001166693.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14159",82,81,0.99,{"$nulls":3},"A有","12308A","AFF2","chrX:148055144","IVS15+7A>G","非编码区","rs5980615",null,1,1,1,0.99,1,"纯合","未知","内含子突变可能影响调控",null,"X连锁智力低下,脆性X-F相关","XR",309548,4,1,1,1,"AFF2",1,110,"非编码区",16303,"0.99=131/132",null,2334,"Xq28","NM_001169122.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3926",169,168,0.99,{"$nulls":3},"A有","12308A","AFF3","chr2:100343557","c.1148C>T(E10)","p.383,S>N","rs4851223",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AFF3",0.98,94,"错义",12230,"0.99=297/299",null,3899,"2q11.2-q12","NM_001025108.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28132",66,27,0.41,{"$nulls":3},"A有","12308A","AFG3L2","chr18:12329536","m.2616C>G(E17)","非编码区","rs1129115",0.34,0.35,0.37,0.33,null,0.38,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,220,"非编码区",14200,"0.42=36/85",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28132",66,27,0.41,{"$nulls":3},"A有","12308A","AFG3L2","chr18:12329536","m.2616C>G(E17)","非编码区","rs1129115",0.34,0.35,0.37,0.33,null,0.38,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,220,"非编码区",14200,"0.42=36/85",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28133",120,69,0.57,{"$nulls":3},"A有","12308A","AFG3L2","chr18:12348285","c.1650T>C(E13)","p.550,E>E","rs11553521",0.71,0.63,0.62,0.65,0.6,0.61,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,220,"同义",13203,"0.54=103/191",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28133",120,69,0.57,{"$nulls":3},"A有","12308A","AFG3L2","chr18:12348285","c.1650T>C(E13)","p.550,E>E","rs11553521",0.71,0.63,0.62,0.65,0.6,0.61,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,220,"同义",13203,"0.54=103/191",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28131",138,76,0.55,{"$nulls":3},"A有","12308A","AFG3L2","chr18:12351342","c.1389C>T(E11)","p.463,L>L","rs11080572",0.62,0.62,0.62,0.63,0.6,0.6,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,220,"同义",13203,"0.54=137/254",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28131",138,76,0.55,{"$nulls":3},"A有","12308A","AFG3L2","chr18:12351342","c.1389C>T(E11)","p.463,L>L","rs11080572",0.62,0.62,0.62,0.63,0.6,0.6,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,220,"同义",13203,"0.54=137/254",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28130",146,77,0.53,{"$nulls":3},"A有","12308A","AFG3L2","chr18:12359920","IVS7+6G>A","剪切位点","rs8097342",0.62,0.62,0.61,0.63,0.63,0.6,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,220,"剪切位点",16202,"0.52=133/256",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28130",146,77,0.53,{"$nulls":3},"A有","12308A","AFG3L2","chr18:12359920","IVS7+6G>A","剪切位点","rs8097342",0.62,0.62,0.61,0.63,0.63,0.6,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,220,"剪切位点",16202,"0.52=133/256",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28536",160,71,0.44,{"$nulls":3},"A有","12308A","AFP","chr4:74302071","IVS1+7T>A","非编码区","rs3796678",0.5,0.56,0.6,0.52,0.53,0.59,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,210,"非编码区",16203,"0.45=134/301",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28536",160,71,0.44,{"$nulls":3},"A有","12308A","AFP","chr4:74302071","IVS1+7T>A","非编码区","rs3796678",0.5,0.56,0.6,0.52,0.53,0.59,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,210,"非编码区",16203,"0.45=134/301",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28534",137,60,0.44,{"$nulls":3},"A有","12308A","AFP","chr4:74302870","IVS1-7T>C","剪切位点","rs16849384",0.42,0.44,0.4,0.48,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,210,"剪切位点",16202,"0.44=116/261",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28534",137,60,0.44,{"$nulls":3},"A有","12308A","AFP","chr4:74302870","IVS1-7T>C","剪切位点","rs16849384",0.42,0.44,0.4,0.48,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,210,"剪切位点",16202,"0.44=116/261",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28533",133,71,0.53,{"$nulls":3},"A有","12308A","AFP","chr4:74310844","IVS7+5A>G","剪切位点","rs2298839",0.51,0.65,0.68,0.62,0.64,0.69,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,210,"剪切位点",16202,"0.50=99/197",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28533",133,71,0.53,{"$nulls":3},"A有","12308A","AFP","chr4:74310844","IVS7+5A>G","剪切位点","rs2298839",0.51,0.65,0.68,0.62,0.64,0.69,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,210,"剪切位点",16202,"0.50=99/197",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28537",33,33,1,{"$nulls":3},"A有","12308A","AFP","chr4:74313169","IVS7-10T>C","剪切位点","rs7667494",1,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,1,5,2,"AFP",1,210,"剪切位点",16202,"1.00=37/37",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28537",33,33,1,{"$nulls":3},"A有","12308A","AFP","chr4:74313169","IVS7-10T>C","剪切位点","rs7667494",1,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,1,5,2,"AFP",1,210,"剪切位点",16202,"1.00=37/37",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28535",64,63,0.98,{"$nulls":3},"A有","12308A","AFP","chr4:74318330","c.1641A>G(E12)","p.547,T>T","rs4235117",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,1,5,2,"AFP",1,210,"同义",13203,"0.98=102/104",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28535",64,63,0.98,{"$nulls":3},"A有","12308A","AFP","chr4:74318330","c.1641A>G(E12)","p.547,T>T","rs4235117",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,1,5,2,"AFP",1,210,"同义",13203,"0.98=102/104",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11572",89,49,0.55,{"$nulls":3},"A有","12308A","AFTPH","chr2:64779509","c.901G>A(E2)","p.301,E>K","rs3770740",0.18,0.26,0.22,0.31,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFTPH",1,150,"错义",12220,"0.54=82/152",null,54812,"2p14","NM_001002243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11573",168,72,0.43,{"$nulls":3},"A有","12308A","AFTPH","chr2:64796817","IVS5+4A>C","剪切位点","rs2287531",0.052,0.17,0.16,0.17,0.13,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFTPH",1,150,"剪切位点",16201,"0.40=121/304",null,54812,"2p14","NM_001002243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11571",5,4,0.8,{"$nulls":3},"A有","12308A","AFTPH","chr2:64819380","m.3278G>A(E9)","非编码区","rs12987864",0.13,0.082,0.076,0.087,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFTPH",1,150,"非编码区",14200,"0.86=6/7",null,54812,"2p14","NM_001002243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9866",32,19,0.59,{"$nulls":3},"A有","12308A","AGA","chr4:178352679","m.1352T>G(E9)","非编码区","rs1061814",0.46,0.51,0.57,0.46,null,0.55,"杂合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,3,2,1,"AGA",1,210,"非编码区",14200,"0.57=20/35",null,175,"4q34.3","NM_000027.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9865",116,116,1,{"$nulls":3},"A有","12308A","AGA","chr4:178359960","c.446G>C(E4)","p.149,T>S","rs2228119",0.92,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,1,2,1,"AGA",1,210,"错义",12220,"1.00=210/210",null,175,"4q34.3","NM_000027.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15474",49,48,0.98,{"$nulls":3},"A有","12308A","AGAP1","chr2:236957822","c.2011G>A(E16)","p.671,V>I","rs2034648",0.69,0.73,0.72,0.73,0.73,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGAP1",0.94,79,"错义",12220,"0.99=70/71",null,116987,"2q37","NM_001037131.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20183",47,21,0.45,{"$nulls":3},"A有","12308A","AGAP11","chr10:88752206","m.567G>A(E4)","非编码区","rs1745903",0.39,0.24,0.21,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,150,"非编码区",14200,"0.48=43/89",null,119385,"10q23.2","NM_133447.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20185",134,134,1,{"$nulls":3},"A有","12308A","AGAP11","chr10:88768253","c.244A>G(E12)","p.82,I>V","rs2641563",0.79,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,150,"错义",12220,"1.00=214/214",null,119385,"10q23.2","NM_133447.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20184",54,34,0.63,{"$nulls":3},"A有","12308A","AGAP11","chr10:88768423","c.414A>G(E12)","p.138,T>T","rs2641562",0.4,0.69,0.73,0.65,0.68,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,150,"同义",13203,"0.62=46/74",null,119385,"10q23.2","NM_133447.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20186",86,85,0.99,{"$nulls":3},"A有","12308A","AGAP11","chr10:88768657","c.648C>T(E12)","p.216,D>D","rs1745901",0.78,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,150,"同义",13203,"0.99=142/144",null,119385,"10q23.2","NM_133447.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29502",12,7,0.58,{"$nulls":3},"A有","12308A","AGAP2","chr12:58126234","c.1746C>A(E7)","p.582,L>L","rs17852479",0.22,0.091,0.1,0.083,0.084,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGAP2",0.74,38,"同义",13203,"0.61=11/18",null,116986,"12q14.1","NM_001122772.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25302",36,24,0.67,{"$nulls":3},"A有","12308A","AGAP4","chr10:46321904","c.1451C>T(E7)","p.484,R>H","rs202104169",{"$nulls":4},0.41,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AGAP4",1,83,"错义",12310,"0.61=41/67",null,119016,"10q11.22","NM_133446.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20104",136,51,0.38,{"$nulls":3},"A有","12308A","AGAP5","chr10:75442543","c.406C>T(E5)","p.136,E>K","rs200625436",{"$nulls":5},0.29,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"AGAP5",1,160,"错义",12320,"0.40=95/237",null,729092,"10q22.2","NM_001144000.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26304",7,2,0.29,{"$nulls":3},"A有","12308A","AGAP6","chr10:51748266-51748267","m.189(E1)至m.190(E1):缺失AG","非编码区",null,null,0.16,0.15,0.17,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"AGAP6",1,150,"非编码区",2440,"0.29=2/7",null,414189,"10q11.23","NM_001077665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26303",142,131,0.92,{"$nulls":3},"A有","12308A","AGAP6","chr10:51748684","c.209G>A(E1)","p.70,R>Q","rs61848260",0.5,0.35,0.31,0.39,null,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP6",1,150,"错义",12220,"0.93=251/269",null,414189,"10q11.23","NM_001077665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16427",19,9,0.47,{"$nulls":3},"A有","12308A","AGAP7","chr10:51464656","c.1800G>C(E7)","p.600,D>E","rs61850063",0.4,0.54,0.52,0.56,0.3,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP7",1,140,"错义",12210,"0.41=9/22",null,653268,"10q11.23","NM_001077685.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16429",73,73,1,{"$nulls":3},"A有","12308A","AGAP7","chr10:51465552","c.904A>T(E7)","p.302,Y>N","rs61850064",{"$nulls":4},0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"AGAP7",1,140,"错义",12320,"1.00=112/112",null,653268,"10q11.23","NM_001077685.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16428",54,18,0.33,{"$nulls":3},"A有","12308A","AGAP7","chr10:51465650","c.806C>T(E7)","p.269,R>Q","rs199898426",0.38,0.48,0.45,0.51,0.3,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP7",1,140,"错义",12210,"0.30=26/88",null,653268,"10q11.23","NM_001077685.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16426",3,3,1,{"$nulls":3},"A有","12308A","AGAP7","chr10:51486325","m.3T>C(E1)","非编码区","rs113081690",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"AGAP7",1,140,"非编码区",14300,"1.00=3/3",null,653268,"10q11.23","NM_001077685.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6191",40,32,0.8,{"$nulls":3},"A有","12308A","AGAP8","chr10:51225623","c.1359A>G(E7)","p.453,N>N","rs200187422",0.82,0.88,0.9,0.85,0.49,0,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP8",1,92,"同义",13203,"0.78=45/58",null,728404,"10q11.23","NM_001077686.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6192",35,25,0.71,{"$nulls":3},"A有","12308A","AGAP8","chr10:51225872","c.1110G>T(E7)","p.370,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"AGAP8",1,92,"同义",13403,"0.74=39/53",null,728404,"10q11.23","NM_001077686.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17748",58,26,0.45,{"$nulls":3},"A有","12308A","AGBL1","chr15:86807761","c.1221A>G(E10)","p.407,E>E","rs10520618",0.51,0.37,0.4,0.33,0.35,0.36,"杂合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"同义",13203,"0.43=36/83",null,123624,"15q25.3","NM_152336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17747",144,69,0.48,{"$nulls":3},"A有","12308A","AGBL1","chr15:86814866","c.1866A>G(E14)","p.622,L>L","rs11858435",0.68,0.4,0.43,0.37,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"同义",13203,"0.49=120/245",null,123624,"15q25.3","NM_152336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17746",114,114,1,{"$nulls":3},"A有","12308A","AGBL1","chr15:86940622","c.2262T>C(E17)","p.754,T>T","rs4362360",0.74,0.87,0.87,0.87,0.88,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"同义",13203,"1.00=197/197",null,123624,"15q25.3","NM_152336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17744",45,45,1,{"$nulls":3},"A有","12308A","AGBL1","chr15:87217613","c.3029A>G(E22)","p.1010,Q>R","rs8028043",0.89,0.92,0.94,0.89,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"错义",12220,"1.00=65/65",null,123624,"15q25.3","NM_152336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17745",185,185,1,{"$nulls":3},"A有","12308A","AGBL1","chr15:87531281","c.3147A>C(E23)","p.1049,T>T","rs1006030",0.82,0.9,0.91,0.89,0.88,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,160,"同义",13203,"1.00=317/317",null,123624,"15q25.3","NM_152336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3460",68,27,0.4,{"$nulls":3},"A有","12308A","AGBL2","chr11:47701528","c.2013C>A(E13)","p.671,M>I","rs12286721",0.58,0.62,0.61,0.63,0.64,0.62,"杂合","无关","有rs号，MAF>=5%",19060910,{"$nulls":3},5,null,1,0,"AGBL2",1,210,"错义",12220,"0.45=48/106",null,79841,"11p11.2","NM_024783.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14152",110,54,0.49,{"$nulls":3},"A有","12308A","AGBL3","chr7:134678253","c.134T>A(E4)","p.45,F>Y","rs2348049",0.23,0.19,0.21,0.16,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,250,"错义",12220,"0.47=82/175",null,340351,"7q33","NM_178563.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14154",250,250,1,{"$nulls":3},"A有","12308A","AGBL3","chr7:134701856","c.364G>C(E5)","p.122,E>Q","rs4236655",0.91,1,1,1,1,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,250,"错义",12220,"0.99=471/474",null,340351,"7q33","NM_178563.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14153",114,114,1,{"$nulls":3},"A有","12308A","AGBL3","chr7:134719551","c.1209C>G(E7)","p.403,L>L","rs9656447",0.91,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,250,"同义",13203,"0.99=195/196",null,340351,"7q33","NM_178563.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24220",88,42,0.48,{"$nulls":3},"A有","12308A","AGBL4","chr1:49511424","c.426A>G(E5)","p.142,H>H","rs3934240",0.23,0.38,0.42,0.34,0.38,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGBL4",1,200,"同义",13203,"0.43=70/163",null,84871,"1p33","NM_032785.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11578",96,94,0.98,{"$nulls":3},"A有","12308A","AGBL5","chr2:27293150","m.2897G>T(E15)","非编码区","rs1053609",0.55,0.71,0.78,0.65,null,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGBL5",1,99,"非编码区",14200,"0.99=168/170",null,60509,"2p23.3","NM_021831.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12217",167,76,0.46,{"$nulls":3},"A有","12308A","AGFG1","chr2:228396888","c.849T>C(E7)","p.283,G>G",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"AGFG1",1,210,"同义",13403,"0.46=153/330",null,3267,"2q36.3","NM_001135187.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12216",83,43,0.52,{"$nulls":3},"A有","12308A","AGFG1","chr2:228398422","c.1044A>G(E8)","p.348,A>A","rs13015491",0.069,0.13,0.15,0.11,0.1,0.096,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGFG1",1,210,"同义",13203,"0.51=74/145",null,3267,"2q36.3","NM_001135187.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12218",65,38,0.58,{"$nulls":3},"A有","12308A","AGFG1","chr2:228416712","c.1488A>G(E12)","p.496,T>T","rs13426457",0.77,0.68,0.64,0.71,0.67,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGFG1",1,210,"同义",13203,"0.59=63/106",null,3267,"2q36.3","NM_001135187.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8873",149,71,0.48,{"$nulls":3},"A有","12308A","AGGF1","chr5:76359024","c.2092C>A(E14)","p.698,P>T","rs34400049",0.21,0.24,0.25,0.23,0.26,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGGF1",1,250,"错义",12220,"0.46=113/248",null,55109,"5q13.3","NM_018046.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2458",79,38,0.48,{"$nulls":3},"A有","12308A","AGL","chr1:100346741","IVS15+8T>C","非编码区","rs3736296",0.56,0.69,0.64,0.73,null,0.66,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,3,3,1,"AGL",1,270,"非编码区",16203,"0.52=65/126",null,178,"1p21","NM_000028.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2457",143,68,0.48,{"$nulls":3},"A有","12308A","AGL","chr1:100361925","c.3343G>A(E25)","p.1115,G>R","rs2230307",0.088,0.19,0.14,0.23,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,3,3,1,"AGL",1,270,"错义",12210,"0.46=114/248",null,178,"1p21","NM_000028.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2459",3,3,1,{"$nulls":3},"A有","12308A","AGL","chr1:100387479","m.5349G>T(E34)","非编码区","rs1804808",0.33,0.57,0.52,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,1,3,1,"AGL",1,270,"非编码区",14200,"1.00=3/3",null,178,"1p21","NM_000028.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23644",55,32,0.58,{"$nulls":3},"A有","12308A","AGMAT","chr1:15909850","c.313C>G(E2)","p.105,G>R","rs6429757",0.63,0.6,0.59,0.61,0.6,0.63,"杂合","无关","有rs号，MAF>=5%",20808825,{"$nulls":3},5,null,2,0,"AGMAT",0.88,82,"错义",12220,"0.56=48/85",null,79814,"1p36.21","NM_024758.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23645",35,22,0.63,{"$nulls":3},"A有","12308A","AGMAT","chr1:15909895","IVS1-5A>G","剪切位点","rs6429758",0.61,0.6,0.59,0.61,null,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGMAT",0.88,82,"剪切位点",16202,"0.67=32/48",null,79814,"1p36.21","NM_024758.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19329",152,74,0.49,{"$nulls":3},"A有","12308A","AGMO","chr7:15427137","c.851G>A(E9)","p.284,T>I","rs191099541",0.0008,0.0048,0,0.0097,0.011,0.0081,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AGMO",1,320,"错义",12110,"0.47=125/264",null,392636,"7p21.2","NM_001004320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19896",50,26,0.52,{"$nulls":3},"A有","12308A","AGR2","chr7:16832382","m.865T>A(E8)","非编码区","rs8071",0.13,0.28,0.27,0.29,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGR2",1,300,"非编码区",14200,"0.55=36/65",null,10551,"7p21.3","NM_006408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19895",96,95,0.99,{"$nulls":3},"A有","12308A","AGR2","chr7:16834551","IVS7+9C>A","非编码区","rs4719480",0.92,0.97,0.98,0.97,0.95,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGR2",1,300,"非编码区",16203,"0.99=152/154",null,10551,"7p21.3","NM_006408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12295",128,51,0.4,{"$nulls":3},"A有","12308A","AGR3","chr7:16899197","m.583C>T(E8)","非编码区","rs11798",0.62,0.77,0.77,0.77,0.71,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGR3",1,290,"非编码区",14200,"0.40=85/215",null,155465,"7p21.1","NM_176813.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12296",219,218,1,{"$nulls":3},"A有","12308A","AGR3","chr7:16913394","IVS3+10A>G","非编码区","rs10249749",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGR3",1,290,"非编码区",16203,"0.99=375/378",null,155465,"7p21.1","NM_176813.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18283",3,3,1,{"$nulls":3},"A有","12308A","AGRN","chr1:981931","c.3066A>G(E18)","p.1022,S>S","rs2465128",0.8,0.97,0.95,0.98,0.8,0.96,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.78,8.7,"同义",13203,"1.00=4/4",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18281",15,15,1,{"$nulls":3},"A有","12308A","AGRN","chr1:982994","c.3558T>C(E21)","p.1186,F>F","rs10267",0.84,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.78,8.7,"同义",13203,"1.00=23/23",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18280",2,2,1,{"$nulls":3},"A有","12308A","AGRN","chr1:984302","c.4161T>C(E24)","p.1387,T>T","rs9442391",0.55,0.81,0.82,0.8,0.6,0.84,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.78,8.7,"同义",13203,"1.00=3/3",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18282",19,19,1,{"$nulls":3},"A有","12308A","AGRN","chr1:987200","IVS33+5C>T","剪切位点","rs9803031",0.79,1,0.99,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.78,8.7,"剪切位点",16202,"1.00=26/26",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18279",3,3,1,{"$nulls":3},"A有","12308A","AGRN","chr1:990280","c.6057C>T(E36)","p.2019,D>D","rs4275402",0.59,0.8,0.82,0.78,0.59,0.82,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.78,8.7,"同义",13203,"1.00=3/3",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16680",12,12,1,{"$nulls":3},"A有","12308A","AGT","chr1:230841687","c.1116T>C(E3)","p.372,L>L","rs7080",null,1,1,1,0.95,1,"纯合","未知","预测范围之外的同义突变",null,"原发性高血压",null,145500,4,1,2,3,"AGT",0.98,39,"同义",13303,"1.00=19/19",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16680",12,12,1,{"$nulls":3},"A有","12308A","AGT","chr1:230841687","c.1116T>C(E3)","p.372,L>L","rs7080",null,1,1,1,0.95,1,"纯合","未知","预测范围之外的同义突变",null,"子痫前期/子痫1型","AD",189800,4,1,2,3,"AGT",0.98,39,"同义",13303,"1.00=19/19",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16680",12,12,1,{"$nulls":3},"A有","12308A","AGT","chr1:230841687","c.1116T>C(E3)","p.372,L>L","rs7080",null,1,1,1,0.95,1,"纯合","未知","预测范围之外的同义突变",null,"肾小管发育不良","AR",267430,4,1,2,3,"AGT",0.98,39,"同义",13303,"1.00=19/19",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16679",27,27,1,{"$nulls":3},"A有","12308A","AGT","chr1:230845794","c.803A>G(E2)","p.268,M>T","rs699",0.71,0.83,0.87,0.79,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","18069999;18248681;18279468;18513389;18603647;18637188;18653189;18698212;18953568;19108684;19131662;19263529;19330901;19559392;19932491;20029521;20061926;20185782;20486282;20570668;20592051;21261619;21304999;21306748;21438754;21988197;22531885;22569109;22858200;23021345;23132613;23251296;23287839;23333443;23354977;23681449;23716723;24622918;24722536;24737640;25020710","原发性高血压",null,145500,5,1,2,3,"AGT",0.98,39,"错义",12220,"1.00=41/41",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16679",27,27,1,{"$nulls":3},"A有","12308A","AGT","chr1:230845794","c.803A>G(E2)","p.268,M>T","rs699",0.71,0.83,0.87,0.79,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","18069999;18248681;18279468;18513389;18603647;18637188;18653189;18698212;18953568;19108684;19131662;19263529;19330901;19559392;19932491;20029521;20061926;20185782;20486282;20570668;20592051;21261619;21304999;21306748;21438754;21988197;22531885;22569109;22858200;23021345;23132613;23251296;23287839;23333443;23354977;23681449;23716723;24622918;24722536;24737640;25020710","子痫前期/子痫1型","AD",189800,5,1,2,3,"AGT",0.98,39,"错义",12220,"1.00=41/41",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16679",27,27,1,{"$nulls":3},"A有","12308A","AGT","chr1:230845794","c.803A>G(E2)","p.268,M>T","rs699",0.71,0.83,0.87,0.79,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","18069999;18248681;18279468;18513389;18603647;18637188;18653189;18698212;18953568;19108684;19131662;19263529;19330901;19559392;19932491;20029521;20061926;20185782;20486282;20570668;20592051;21261619;21304999;21306748;21438754;21988197;22531885;22569109;22858200;23021345;23132613;23251296;23287839;23333443;23354977;23681449;23716723;24622918;24722536;24737640;25020710","肾小管发育不良","AR",267430,5,1,2,3,"AGT",0.98,39,"错义",12220,"1.00=41/41",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27408",2,2,1,{"$nulls":3},"A有","12308A","AGTR2","chrX:115304830","m.1504A>G(E3)","非编码区","rs5194",null,0.6,0.59,0.61,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"AGTR2",1,69,"非编码区",14300,"1.00=2/2",null,186,"Xq22-q23","NM_000686.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21693",116,48,0.41,{"$nulls":3},"A有","12308A","AGXT2","chr5:34998778","m.1834C>A(E14)","非编码区","rs16899972",0.48,0.55,0.59,0.5,null,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AGXT2",1,190,"非编码区",14200,"0.37=71/193",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21694",190,76,0.4,{"$nulls":3},"A有","12308A","AGXT2","chr5:34998877","c.1492C>A(E14)","p.498,V>L","rs16899974",0.24,0.4,0.43,0.36,0.37,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AGXT2",1,190,"错义",12220,"0.37=136/366",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21690",117,53,0.45,{"$nulls":3},"A有","12308A","AGXT2","chr5:35010138","c.1305A>G(E12)","p.435,G>G","rs466067",0.89,0.79,0.81,0.77,0.77,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AGXT2",1,190,"同义",13203,"0.45=90/202",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21691",105,47,0.45,{"$nulls":3},"A有","12308A","AGXT2","chr5:35033605","c.635G>A(E6)","p.212,T>I","rs180749",0.88,0.79,0.81,0.76,0.75,0.79,"杂合","无关","有rs号，MAF>=5%",24727203,{"$nulls":3},5,null,7,0,"AGXT2",1,190,"错义",12210,"0.48=90/186",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21692",58,32,0.55,{"$nulls":3},"A有","12308A","AGXT2","chr5:35037115","c.418C>T(E4)","p.140,V>I","rs37369",0.39,0.56,0.53,0.58,0.55,0.58,"杂合","无关","有rs号，MAF>=5%","21572414;21931564;23023372;24159190;24727203;24834905",{"$nulls":3},5,null,7,0,"AGXT2",1,190,"错义",12220,"0.54=51/95",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21689",105,44,0.42,{"$nulls":3},"A有","12308A","AGXT2","chr5:35039437","c.354A>G(E3)","p.118,H>H","rs2279651",0.4,0.23,0.23,0.24,0.27,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AGXT2",1,190,"同义",13203,"0.42=70/168",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21688",120,118,0.98,{"$nulls":3},"A有","12308A","AGXT2","chr5:35039486","c.305C>T(E3)","p.102,S>N","rs37370",null,0.52,0.52,0.53,0.57,0.53,"纯合","未知","蛋白结构预测结果为容忍或无害","18207134;24159190;24727203",{"$nulls":3},3,null,7,0,"AGXT2",1,190,"错义",12320,"0.99=202/204",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1557",157,65,0.41,{"$nulls":3},"A有","12308A","AHCTF1","chr1:247048834","c.2648T>C(E21)","p.883,N>S","rs2642990",0.68,0.6,0.58,0.62,0.57,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AHCTF1",1,240,"错义",12220,"0.41=95/231",null,25909,"1q44","NM_015446.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4785",5,5,1,{"$nulls":3},"A有","12308A","AHCY","chr20:32891200","m.16G>T(E1)","非编码区","rs819146",0.68,0.78,0.8,0.76,null,null,"纯合","无关","有rs号，MAF>=5%",null,"高蛋氨酸血症（S-腺苷高半胱氨酸水解酶缺乏）","AR",613752,5,1,1,1,"AHCY",1,56,"非编码区",14200,"1.00=10/10",null,191,"20q11.22","NM_000687.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v764",28,28,1,{"$nulls":3},"A有","12308A","AHCYL2","chr7:129067053","m.2063T>C(E17)","非编码区","rs4728164",0.33,0.61,0.6,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AHCYL2",0.79,140,"非编码区",14200,"1.00=31/31",null,23382,"7q32.1","NM_001130720.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24012",4,4,1,{"$nulls":3},"A有","12308A","AHDC1","chr1:27875824","c.2803C>T(E6)","p.935,A>T","rs4908364",1,1,1,1,0.84,1,"纯合","无关","有rs号，MAF>=5%",null,"XIA-GIBBS综合征","AD",615829,5,1,2,1,"AHDC1",0.81,6.9,"错义",12220,"1.00=5/5",null,27245,"1p36.13","NM_001029882.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24013",4,3,0.75,{"$nulls":3},"A有","12308A","AHDC1","chr1:27876482","c.2145C>A(E6)","p.715,P>P","rs2076457",0.79,0.81,0.8,0.83,0.66,0.79,"杂合","无关","有rs号，MAF>=5%",null,"XIA-GIBBS综合征","AD",615829,5,1,2,1,"AHDC1",0.81,6.9,"同义",13203,"0.75=6/8",null,27245,"1p36.13","NM_001029882.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16838",150,77,0.51,{"$nulls":3},"A有","12308A","AHNAK","chr11:62284468","c.17421A>C(E5)","p.5807,S>S","rs11555629",0.045,0.012,0.024,0,0.011,0.013,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"AHNAK",1,180,"同义",13103,"0.53=139/262",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16834",43,21,0.49,{"$nulls":3},"A有","12308A","AHNAK","chr11:62285441","c.16448A>G(E5)","p.5483,I>T","rs61312994",0.033,0.012,0.024,0,0.008,0.013,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,14,0,"AHNAK",1,180,"错义",12110,"0.48=31/64",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16841",37,19,0.51,{"$nulls":3},"A有","12308A","AHNAK","chr11:62285665","c.16224C>T(E5)","p.5408,L>L","rs61625484",0.044,0.012,0.024,0,0.01,0.013,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"AHNAK",1,180,"同义",13103,"0.52=27/52",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16837",129,60,0.47,{"$nulls":3},"A有","12308A","AHNAK","chr11:62287828","c.14061T>C(E5)","p.4687,K>K","rs12292433",0.045,0.012,0.024,0,0.011,0.013,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"AHNAK",1,180,"同义",13103,"0.43=97/223",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16842",89,42,0.47,{"$nulls":3},"A有","12308A","AHNAK","chr11:62290719","c.11170A>G(E5)","p.3724,S>P","rs11231128",0.045,0.012,0.024,0,0.013,0.013,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,14,0,"AHNAK",1,180,"错义",12120,"0.49=65/132",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16836",115,114,0.99,{"$nulls":3},"A有","12308A","AHNAK","chr11:62292882","c.9007G>T(E5)","p.3003,Q>K","rs566144",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"AHNAK",1,180,"错义",12220,"0.99=171/172",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16839",175,84,0.48,{"$nulls":3},"A有","12308A","AHNAK","chr11:62293822","c.8067C>T(E5)","p.2689,K>K","rs12366127",0.082,0.21,0.22,0.2,0.24,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"AHNAK",1,180,"同义",13203,"0.45=134/300",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16832",185,94,0.51,{"$nulls":3},"A有","12308A","AHNAK","chr11:62295361","c.6528C>A(E5)","p.2176,E>D","rs145871196",0.026,0.012,0.024,0,0.011,0.013,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,14,0,"AHNAK",1,180,"错义",12120,"0.52=166/321",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16831",105,46,0.44,{"$nulls":3},"A有","12308A","AHNAK","chr11:62296535","c.5354T>C(E5)","p.1785,D>G","rs77055528",0.04,0.012,0.024,0,0.014,0.013,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,14,0,"AHNAK",1,180,"错义",12110,"0.47=66/140",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16840",105,49,0.47,{"$nulls":3},"A有","12308A","AHNAK","chr11:62296601","c.5288T>C(E5)","p.1763,K>R","rs74853209",0.044,0.012,0.024,0,0.011,0.013,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,14,0,"AHNAK",1,180,"错义",12120,"0.47=76/162",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16843",103,49,0.48,{"$nulls":3},"A有","12308A","AHNAK","chr11:62297162","c.4727G>A(E5)","p.1576,T>M","rs75855515",0.027,0.012,0.024,0,0.015,0.013,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,14,0,"AHNAK",1,180,"错义",12110,"0.46=73/158",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16833",140,75,0.54,{"$nulls":3},"A有","12308A","AHNAK","chr11:62297447","c.4442T>C(E5)","p.1481,K>R","rs75436331",0.033,0.012,0.024,0,0.013,0.013,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,14,0,"AHNAK",1,180,"错义",12110,"0.50=122/242",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16835",70,29,0.41,{"$nulls":3},"A有","12308A","AHNAK","chr11:62299945","c.1944A>C(E5)","p.648,V>V","rs11231130",0.084,0.012,0.024,0,0.011,0.013,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"AHNAK",1,180,"同义",13203,"0.43=43/100",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16844",25,10,0.4,{"$nulls":3},"A有","12308A","AHNAK","chr11:62303555-62303556","c.16(E3)至c.15(E3):插入CTC","插入非移码","rs145590149",0.086,0.012,0.024,0,null,0.013,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,14,0,"AHNAK",1,180,"插入非移码",2223,"0.40=10/25",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7642",31,18,0.58,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105404384","m.17524T>C(E7)","非编码区","rs1048257",0.55,0.4,0.44,0.35,null,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"非编码区",14200,"0.53=24/45",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7622",72,32,0.44,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105405599","c.16189G>C(E7)","p.5397,P>A","rs3742935",0.56,0.4,0.44,0.35,0.4,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12210,"0.49=65/134",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7645",45,22,0.49,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105405942","c.15846G>A(E7)","p.5282,L>L","rs28454709",0.55,0.4,0.44,0.35,0.39,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.52=38/73",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7619",46,16,0.35,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105406238","c.15550A>C(E7)","p.5184,Y>D","rs2819419",0.59,0.4,0.44,0.35,0.39,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.35=21/60",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7655",32,16,0.5,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105407031","c.14757A>G(E7)","p.4919,S>S","rs11623422",0.55,0.4,0.44,0.35,0.38,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.45=17/38",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7595",59,32,0.54,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105407208","c.14580T>C(E7)","p.4860,V>V","rs11851053",0.55,0.4,0.44,0.35,0.4,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.55=56/102",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7606",54,31,0.57,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105407798","c.13990T>C(E7)","p.4664,T>A","rs4465542",0.56,0.4,0.44,0.35,0.4,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.58=44/76",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7591",22,9,0.41,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105408030","c.13758A>G(E7)","p.4586,D>D","rs9671643",0.56,0.4,0.44,0.35,0.41,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.36=16/44",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7635",30,13,0.43,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105408182","c.13606T>G(E7)","p.4536,M>L","rs9672139",0.53,0.38,0.42,0.33,0.38,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.47=22/47",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7627",44,15,0.34,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105408315","c.13473T>C(E7)","p.4491,P>P","rs28600075",0.56,0.4,0.44,0.35,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.29=22/77",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7641",57,23,0.4,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105408811","c.12977A>G(E7)","p.4326,L>P","rs2819421",0.56,0.36,0.4,0.31,0.37,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.38=34/90",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7594",57,25,0.44,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105408827","c.12961A>C(E7)","p.4321,L>V","rs11850949",0.53,0.36,0.4,0.31,0.37,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.41=37/90",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7589",59,27,0.46,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105408855","c.12933A>C(E7)","p.4311,S>S","rs371380674",3.8E-3,0,0,0,0.0057,0.0034,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.44=42/95",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7617",39,22,0.56,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105408955","c.12833A>G(E7)","p.4278,V>A","rs2819422",0.58,0.4,0.44,0.35,0.41,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.62=40/65",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7601",41,13,0.32,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105409800","c.11988T>C(E7)","p.3996,P>P","rs373289625",0.0054,0,0,0,0.0046,0.01,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.31=22/71",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7638",41,13,0.32,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105409806","c.11982G>A(E7)","p.3994,T>T","rs140129247",0.0056,0,0,0,0.0057,0.01,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.29=21/72",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7618",43,14,0.33,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105409808","c.11980T>A(E7)","p.3994,T>S","rs200747295",0.0054,0,0,0,0.0046,0.01,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12120,"0.31=23/75",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7609",50,25,0.5,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105409959","c.11829G>T(E7)","p.3943,A>A","rs10152073",0.55,0.4,0.44,0.35,0.41,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.57=53/93",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7631",39,19,0.49,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105410183","c.11605T>C(E7)","p.3869,M>V","rs10438246",0.56,0.4,0.44,0.35,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.51=29/57",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7603",57,22,0.39,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105410411","c.11377C>T(E7)","p.3793,D>N","rs11160825",0.55,0.39,0.44,0.34,0.39,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12210,"0.36=35/96",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7632",41,23,0.56,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105410775","c.11013A>G(E7)","p.3671,D>D","rs2819424",0.59,0.4,0.44,0.35,0.41,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.50=32/64",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7593",47,27,0.57,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105410827","c.10961C>T(E7)","p.3654,G>E","rs28380382",0.55,0.4,0.44,0.35,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12210,"0.54=43/79",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7592",21,9,0.43,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105411700","c.10088A>G(E7)","p.3363,V>A","rs4264326",0.56,0.4,0.45,0.35,0.41,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.40=10/25",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7652",28,10,0.36,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105411781","c.10007G>A(E7)","p.3336,P>L","rs10438247",0.54,0.4,0.45,0.35,0.41,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12210,"0.35=15/43",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7646",43,21,0.49,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105412259","c.9529G>C(E7)","p.3177,L>V","rs2819426",0.43,0.36,0.39,0.32,0.35,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.49=29/59",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7636",42,21,0.5,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105412260","c.9528G>C(E7)","p.3176,D>E","rs11160826",{"$nulls":4},0.35,0.37,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12320,"0.48=29/60",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7624",38,13,0.34,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105412541","c.9247C>T(E7)","p.3083,V>I","rs12433837",0.52,0.38,0.41,0.34,0.37,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.33=17/51",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7612",37,13,0.35,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105412542","c.9246A>G(E7)","p.3082,D>D","rs12433815",0.52,0.38,0.41,0.34,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.34=17/50",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7596",37,14,0.38,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105412554","c.9234T>G(E7)","p.3078,G>G","rs12436986",0.51,0.38,0.4,0.34,0.36,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.34=18/53",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7628",35,13,0.37,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105412561","c.9227C>T(E7)","p.3076,R>H","rs3000771",{"$nulls":4},0.36,0.39,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12320,"0.34=17/50",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7633",52,29,0.56,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105413204","c.8584G>T(E7)","p.2862,R>S","rs2582514",0.57,0.38,0.41,0.34,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.58=46/79",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7614",60,31,0.52,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105413223","c.8565A>G(E7)","p.2855,D>D","rs55797226",0.53,0.42,0.44,0.39,0.44,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.52=50/96",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7625",38,23,0.61,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105413575","c.8213C>T(E7)","p.2738,S>N",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12420,"0.53=30/57",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7664",39,22,0.56,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105414238","c.7550C>A(E7)","p.2517,G>V","rs60754080",0.48,0.31,0.34,0.29,0.35,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.61=38/62",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7611",43,22,0.51,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105414252","c.7536C>T(E7)","p.2512,K>K","rs60106058",0.45,0.31,0.33,0.28,0.34,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.56=39/70",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7621",45,43,0.96,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105414280","c.7508T>G(E7)","p.2503,E>A","rs2819429",0.84,0.62,0.64,0.59,0.63,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12210,"0.95=70/74",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7637",23,16,0.7,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105414629","c.7159G>A(E7)","p.2387,P>S","rs72702027",0.53,0.39,0.43,0.34,0.41,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12210,"0.69=20/29",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7658",71,31,0.44,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105414790","c.6998A>G(E7)","p.2333,L>P","rs2582513",0.56,0.42,0.45,0.38,0.45,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.38=46/120",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7629",73,44,0.6,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105414804","c.6984A>G(E7)","p.2328,F>F","rs117064989",0.042,0.19,0.2,0.18,0.18,0.17,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.64=77/120",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7668",73,29,0.4,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105414810","c.6978C>G(E7)","p.2326,L>L","rs10145032",0.53,0.42,0.45,0.38,0.45,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.34=42/124",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7653",39,39,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105415352","c.6436G>C(E7)","p.2146,L>V","rs12890949",null,0,0,0,0.51,null,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12320,"1.00=55/55",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7616",44,16,0.36,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105415469","c.6319T>C(E7)","p.2107,M>V","rs11846918",0.45,0.36,0.4,0.33,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.34=26/76",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7651",41,17,0.41,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105415497","c.6291T>C(E7)","p.2097,K>K","rs201263008",{"$nulls":4},0.27,0.27,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13303,"0.40=28/70",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7610",29,11,0.38,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105415577","c.6211G>A(E7)","p.2071,L>L","rs375265904",{"$nulls":4},0.16,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13303,"0.38=16/42",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7654",19,17,0.89,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105415607","c.6181C>T(E7)","p.2061,V>M","rs112699389",0.0072,0.038,0.019,0.058,0.041,0.043,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12120,"0.93=25/27",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7647",18,18,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105415638","c.6150G>T(E7)","p.2050,G>G","rs117631059",0.0072,0.038,0.019,0.058,0.041,0.043,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"1.00=25/25",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7623",34,33,0.97,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416220","c.5568T>A(E7)","p.1856,E>D","rs2819435",null,0.57,0.6,0.54,0.58,0.6,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12320,"0.97=60/62",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7607",27,4,0.15,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416343","c.5445A>G(E7)","p.1815,D>D","rs140200392",0.013,0.0096,0,0.019,0.026,0.0048,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.13=7/54",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7588",14,14,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416685","c.5103C>G(E7)","p.1701,L>L","rs2582506",0.0022,0.0024,0.0048,0,0.44,0.42,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"1.00=21/21",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7667",17,17,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416715","c.5073A>G(E7)","p.1691,D>D","rs202059234",0.028,0.024,0.029,0.019,null,0.02,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"1.00=26/26",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7620",19,19,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416731","c.5057G>A(E7)","p.1686,P>L","rs200117851",6.6E-3,0.014,0.0095,0.019,null,2E-3,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,80,0,"AHNAK2",1,66,"错义",12110,"1.00=29/29",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7663",22,22,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416784","c.5004A>G(E7)","p.1668,F>F","rs59373922",0.26,0.33,0.37,0.29,0.34,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.97=32/33",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7643",19,19,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416823","c.4965G>A(E7)","p.1655,D>D","rs2582504",0.16,0.26,0.28,0.25,0.29,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"1.00=25/25",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7597",24,24,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416875","c.4913G>A(E7)","p.1638,A>V","rs185154010",0.018,0.041,0.043,0.039,0.024,null,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12120,"1.00=32/32",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7661",23,23,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416936","c.4852T>C(E7)","p.1618,K>E","rs540496124",0.0046,0.0024,0,0.0049,null,0.00094,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12120,"1.00=36/36",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7615",22,22,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105416959","c.4829A>G(E7)","p.1610,V>A","rs2013462",0.57,0.33,0.37,0.3,0.36,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"1.00=39/39",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7599",16,16,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417102","c.4686T>C(E7)","p.1562,P>P","rs2248966",0.56,0.35,0.38,0.33,0.38,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"1.00=25/25",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7648",15,15,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417147","c.4641A>G(E7)","p.1547,S>S","rs2013445",0.43,0.33,0.36,0.3,0.36,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"1.00=21/21",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7613",22,20,0.91,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417210","c.4578G>A(E7)","p.1526,D>D","rs148032399",0.014,0.0072,0,0.015,0.013,0.02,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.91=29/32",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7660",28,27,0.96,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417270","c.4518A>C(E7)","p.1506,S>S","rs2819437",0.04,0.0096,0.019,0,0.024,0.014,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.96=45/47",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7608",22,5,0.23,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417738","c.4050G>C(E7)","p.1350,S>S","rs536679222",0.074,0.014,0.014,0.015,null,4.3E-3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.12=5/40",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7587",23,7,0.3,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417747","c.4041A>G(E7)","p.1347,I>I","rs373120351",{"$nulls":4},0.024,0.0054,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13303,"0.29=12/42",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7644",21,14,0.67,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417765","c.4023A>C(E7)","p.1341,S>S","rs2894636",{"$nulls":4},0.3,0.3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13303,"0.67=26/39",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7590",21,14,0.67,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417766","c.4022G>A(E7)","p.1341,S>F","rs2396457",0.31,0.28,0.29,0.28,0.3,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12210,"0.67=26/39",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7659",22,15,0.68,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417768","c.4020C>A(E7)","p.1340,V>V","rs2396458",0.016,0,0,0,0.3,0.29,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.68=27/40",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7598",24,16,0.67,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417774","c.4014G>A(E7)","p.1338,F>F","rs2013228",0.39,0.29,0.29,0.29,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.64=29/45",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7602",35,18,0.51,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417837","c.3951A>G(E7)","p.1317,A>A","rs76231332",0.26,0.28,0.3,0.27,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"同义",13203,"0.46=31/67",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7666",33,33,1,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105417894","c.3894C>G(E7)","p.1298,M>I","rs2819440",0.78,0.59,0.6,0.57,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.98=55/56",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7626",60,44,0.73,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105418275","c.3513T>C(E7)","p.1171,P>P","rs2819441",0.023,0.062,0.09,0.034,0.24,0.24,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,80,0,"AHNAK2",1,66,"同义",13103,"0.73=66/90",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7657",44,23,0.52,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105418344","c.3444T>G(E7)","p.1148,E>D","rs55791176",1.8E-3,0,0,0,0.38,0.38,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12120,"0.48=31/64",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7605",44,17,0.39,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105418391","c.3397C>T(E7)","p.1133,V>I","rs11625007",{"$nulls":4},0.36,0.32,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,80,0,"AHNAK2",1,66,"错义",12320,"0.40=25/63",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7630",24,8,0.33,{"$nulls":3},"A有","12308A","AHNAK2","chr14:105418502","c.3286G>T(E7)","p.1096,L>I","rs201268922",0.13,0.22,0.2,0.23,0.25,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,80,0,"AHNAK2",1,66,"错义",12220,"0.40=14/35",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21766",21,11,0.52,{"$nulls":3},"A有","12308A","AIF1","chr6:31583312","c.40G>A(E2)","p.14,G>R","rs2736182",0.12,0.13,0.13,0.13,0.11,0.14,"杂合","无关","有rs号，MAF>=5%",22106834,{"$nulls":3},5,null,1,0,"AIF1",0.78,43,"错义",12210,"0.52=17/33",null,199,"6p21.3","NM_001623.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1941",13,13,1,{"$nulls":3},"A有","12308A","AK1","chr9:130630639","c.477A>G(E6)","p.159,P>P","rs913986",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"溶血性贫血性腺苷酸激酶缺乏症","AR",612631,5,1,2,1,"AK1",1,36,"同义",13203,"1.00=19/19",null,203,"9q34.1","NM_000476.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10660",56,56,1,{"$nulls":3},"A有","12308A","AKAP12","chr6:151669875","c.349A>G(E4)","p.117,K>E","rs10872670",0.69,0.59,0.61,0.57,0.56,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"AKAP12",0.99,80,"错义",12220,"1.00=77/77",null,9590,"6q24-q25","NM_005100.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2504",25,25,1,{"$nulls":3},"A有","12308A","AKAP3","chr12:4736495","c.1573C>T(E4)","p.525,E>K","rs1990312",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"AKAP3",1,83,"错义",12220,"1.00=38/38",null,10566,"12p13.3","NM_006422.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23503",171,80,0.47,{"$nulls":3},"A有","12308A","AKR1C3","chr10:5136651","c.15C>G(E1)","p.5,H>Q","rs12529",0.58,0.86,0.89,0.83,0.85,0.87,"杂合","无关","有rs号，MAF>=5%","17940109;18339682;18632753;21323680",{"$nulls":3},5,null,4,0,"AKR1C3",1,260,"错义",12220,"0.50=158/317",null,8644,"10p15-p14","NM_001253909.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26852",57,30,0.53,{"$nulls":3},"A有","12308A","ALDH1A3","chr15:101445900","IVS10+8G>A","非编码区","rs3825924",0.21,0.52,0.52,0.51,0.5,0.53,"杂合","无关","有rs号，MAF>=5%",null,"孤立型小眼畸形8型","AR",615113,5,3,1,1,"ALDH1A3",0.94,140,"非编码区",16203,"0.48=46/95",null,220,"15q26.3","NM_000693.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31380",85,39,0.46,{"$nulls":3},"A有","12308A","ALDOB","chr9:104192029","IVS3+8G>C","非编码区","rs118168553",0.0052,0.036,0.029,0.044,0.039,0.036,"杂合","未知","内含子突变可能影响调控",null,"遗传性果糖不耐症/果糖血症","AR",229600,4,3,1,1,"ALDOB",1,130,"非编码区",16103,"0.47=67/142",null,229,"9q21.3-q22.2","NM_000035.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10165",15,8,0.53,{"$nulls":3},"A有","12308A","ALOXE3","chr17:8022065","c.32G>A(E1)","p.11,P>L","rs3027232",0.37,0.51,0.56,0.47,0.36,0.45,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病3型","AR",606545,5,3,3,1,"ALOXE3",0.93,64,"错义",12220,"0.44=11/25",null,59344,"17p13.1","NM_001165960.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12325",5,5,1,{"$nulls":3},"A有","12308A","ALPK3","chr15:85401259","c.3896C>T(E6)","p.1299,P>L","rs306197",0.8,0.85,0.88,0.82,0.71,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ALPK3",0.92,35,"错义",12220,"1.00=6/6",null,57538,"15q25.2","NM_020778.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19849",8,8,1,{"$nulls":3},"A有","12308A","ALPL","chr1:21889635","c.330T>C(E5)","p.110,S>S","rs1780316",0.93,0.99,0.99,0.99,0.84,0.99,"纯合","无关","有rs号，MAF>=5%",null,"婴儿型低磷酸酯酶症","AR",241500,5,1,4,3,"ALPL",0.95,49,"同义",13203,"1.00=11/11",null,249,"1p36.12","NM_000478.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20848",4,4,1,{"$nulls":3},"A有","12308A","ALX3","chr1:110603286","m.1189A>G(E4)","非编码区","rs4520416",1.4E-3,0.0024,0.0048,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"额鼻发育不良1型","AR",136760,3,3,1,1,"ALX3",0.8,24,"非编码区",14100,"0.83=5/6",null,257,"1p13.3","NM_006492.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23183",13,5,0.38,{"$nulls":3},"A有","12308A","AMOTL1","chr11:94602414","c.2540C>T(E12)","p.847,P>L","rs11020968",0.092,0.16,0.13,0.19,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AMOTL1",1,75,"错义",12210,"0.39=7/18",null,154810,"11q14.3","NM_130847.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25411",148,40,0.27,{"$nulls":3},"A有","12308A","ANAPC1","chr2:112614429","c.1393G>A(E12)","p.465,Q>X","rs72936240",{"$nulls":4},0.31,0.41,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,4,0,"ANAPC1",1,300,"截断",15300,"0.32=82/259",null,64682,"2q12.1","NM_022662.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11730",13,9,0.69,{"$nulls":3},"A有","12308A","ANKMY2","chr7:16640197","m.1759T>C(E10)","非编码区","rs3735246",0.33,0.53,0.53,0.53,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ANKMY2",1,230,"非编码区",14200,"0.69=9/13",null,57037,"7p21","NM_020319.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3289",3,2,0.67,{"$nulls":3},"A有","12308A","ANKRD20A4","chr9:69424747","m.3155T>C(E15)","非编码区","rs201296600",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ANKRD20A4",0.93,290,"非编码区",14300,"0.75=3/4",null,728747,"9q21.11","NM_001098805.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23403",95,95,1,{"$nulls":3},"A有","12308A","ANKRD27","chr19:33106621","c.2118C>T(E22)","p.706,A>A","rs405858",0.48,0.34,0.36,0.32,0.34,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ANKRD27",0.99,130,"同义",13203,"0.99=186/187",null,84079,"19q13.11","NM_032139.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3993",65,65,1,{"$nulls":3},"A有","12308A","ANKRD34B","chr5:79855372","c.467A>G(E5)","p.156,L>S","rs32857",0.94,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ANKRD34B",1,92,"错义",12220,"1.00=115/115",null,340120,"5q14.1","NM_001004441.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1444",51,29,0.57,{"$nulls":3},"A有","12308A","ANKRD40","chr17:48774319","c.942G>A(E4)","p.314,P>P","rs3815378",0.043,0.038,0.029,0.049,0.046,0.05,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ANKRD40",1,130,"同义",13103,"0.58=46/79",null,91369,"17q21.33","NM_052855.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18029",3,2,0.67,{"$nulls":3},"A有","12308A","ANKRD65","chr1:1354515","c.1165C>G(E4)","p.389,E>Q","rs904589",0.32,0.089,0.086,0.092,0.07,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ANKRD65",0.49,2.1,"错义",12220,"0.67=2/3",null,441869,"1p36.33","NM_001145210.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29254",10,10,1,{"$nulls":3},"A有","12308A","ANO7","chr2:242129515","c.199G>A(E2)","p.67,V>I","rs2302054",0.16,0.48,0.46,0.5,0.4,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ANO7",0.9,30,"错义",12220,"1.00=16/16",null,50636,"2q37.3","NM_001001666.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3738",7,7,1,{"$nulls":3},"A有","12308A","AOX1","chr2:201535646","m.4362C>T(E35)","非编码区","rs2540065",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AOX1",1,210,"非编码区",14200,"1.00=7/7",null,316,"2q33","NM_001159.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6555",118,56,0.47,{"$nulls":3},"A有","12308A","AP3M1","chr10:75884157","c.1137G>T(E8)","p.379,I>I","rs16931199",0.027,0.091,0.1,0.078,0.089,0.098,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"AP3M1",1,250,"同义",13103,"0.50=95/191",null,26985,"10q22.2","NM_012095.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27287",186,185,0.99,{"$nulls":3},"A有","12308A","APC","chr5:112164561","c.1635G>A(E14)","p.545,A>A","rs351771",0.67,0.8,0.78,0.81,0.8,0.82,"纯合","无关","有rs号，MAF>=5%","16569251;18849522;20333795;24078348","结肠癌","AD",114500,5,1,8,5,"APC",0.98,160,"同义",13203,"1.00=329/330",null,324,"5q21-q22","NM_000038.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6574",8,5,0.62,{"$nulls":3},"A有","12308A","APITD1-CORT","chr1:10490522","m.364C>T(E1)","非编码区","rs116395144",0.033,0.077,0.081,0.073,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"APITD1-CORT",0.85,86,"非编码区",14100,"0.54=7/13",null,100526739,"1p","NM_001270517.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24706",19,19,1,{"$nulls":3},"A有","12308A","APOBEC3B","chr22:39382079","c.437C>A(E3)","p.146,T>K","rs5995649",0.95,0.97,0.97,0.97,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"APOBEC3B",1,80,"错义",12230,"1.00=24/24",null,9582,"22q13.1-q13.2","NM_001270411.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12212",66,29,0.44,{"$nulls":3},"A有","12308A","APOBEC4","chr1:183617105","c.812A>G(E2)","p.271,F>S","rs1174658",0.37,0.21,0.25,0.18,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"APOBEC4",1,110,"错义",12220,"0.46=47/102",null,403314,"1q25.3","NM_203454.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1541",41,20,0.49,{"$nulls":3},"A有","12308A","APOL1","chr22:36661842","c.960G>A(E6)","p.320,R>R","rs136177",0.85,0.8,0.78,0.83,0.83,0.83,"杂合","无关","有rs号，MAF>=5%",null,"局灶性节段性肾小球硬化症4型",null,612551,5,2,5,1,"APOL1",1,130,"同义",13203,"0.51=29/57",null,8542,"22q13.1","NM_001136540.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13643",11,5,0.45,{"$nulls":3},"A有","12308A","ARAP3","chr5:141059868","c.186T>C(E2)","p.62,L>L","rs11167756",0.47,0.49,0.48,0.5,0.44,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ARAP3",1,55,"同义",13203,"0.50=9/18",null,64411,"5q31.3","NM_022481.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9514",175,79,0.45,{"$nulls":3},"A有","12308A","ARHGAP12","chr10:32141460","c.1155T>C(E6)","p.385,E>E","rs2799021",0.23,0.41,0.38,0.44,0.37,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ARHGAP12",1,260,"同义",13203,"0.45=137/306",null,94134,"10p11.22","NM_001270695.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28597",248,111,0.45,{"$nulls":3},"A有","12308A","ARHGAP28","chr18:6912143","c.1703A>C(E17)","p.568,Q>P","rs1056408",0.73,0.7,0.68,0.72,0.72,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ARHGAP28",1,240,"错义",12220,"0.45=192/428",null,79822,"18p11.31","NM_001010000.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6031",9,4,0.44,{"$nulls":3},"A有","12308A","ARHGEF11","chr1:156907031","IVS38+10C>T","非编码区","rs4570419",0.22,{"$nulls":4},0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ARHGEF11",1,89,"非编码区",16203,"0.45=5/11",null,9826,"1q21","NM_014784.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19607",8,2,0.25,{"$nulls":3},"A有","12308A","ARHGEF19","chr1:16534646","c.487C>G(E3)","p.163,G>R","rs221058",0.24,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ARHGEF19",0.9,23,"错义",12210,"0.19=3/16",null,128272,"1p36.13","NM_153213.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21938",2,2,1,{"$nulls":3},"A有","12308A","ARHGEF40","chr14:21542753","c.864G>A(E3)","p.288,A>A","rs1243472",0.24,0.47,0.45,0.5,0.37,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ARHGEF40",0.94,44,"同义",13203,"1.00=2/2",null,55701,"14q11.2","NM_018071.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4410",28,27,0.96,{"$nulls":3},"A有","12308A","ARMC1","chr8:66516490","m.1243C>T(E7)","非编码区","rs3750184",0.72,0.49,0.47,0.5,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ARMC1",1,270,"非编码区",14200,"0.97=36/37",null,55156,"8q13.1","NM_018120.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8004",7,7,1,{"$nulls":3},"A有","12308A","ARNT2","chr15:80886191","m.2472T>C(E19)","非编码区","rs8033706",0.8,0.95,0.94,0.96,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Webb-Dattani综合征","AR",615926,5,1,2,1,"ARNT2",0.99,120,"非编码区",14200,"1.00=7/7",null,9915,"15q24","NM_014862.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27573",48,48,1,{"$nulls":3},"A有","12308A","ART5","chr11:3661140","c.519T>C(E3)","p.173,G>G","rs4910876",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ART5",1,57,"同义",13203,"1.00=73/73",null,116969,"11p15.4","NM_001079536.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4316",3,3,1,{"$nulls":3},"A有","12308A","ASB8","chr12:48542993","m.1192G>A(E4)","非编码区","rs78730237",0.17,0.39,0.38,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ASB8",1,100,"非编码区",14200,"1.00=3/3",null,140461,"12q13.11","NM_024095.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11812",2,2,1,{"$nulls":3},"A有","12308A","ASB9","chrX:15262372","m.1438T>A(E7)","非编码区","rs9560",null,1,1,1,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ASB9",1,87,"非编码区",14300,"1.00=2/2",null,140462,"-","NM_001031739.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18027",241,241,1,{"$nulls":3},"A有","12308A","ASPN","chr9:95219597","c.1116G>A(E8)","p.372,S>S","rs4744132",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"椎间盘疾病（易感）",null,603932,5,1,1,2,"ASPN",1,280,"同义",13203,"1.00=450/450",null,54829,"9q22","NM_017680.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11436",4,4,1,{"$nulls":3},"A有","12308A","ASXL1","chr20:31025231","m.5148T>C(E13)","非编码区","rs2295763",0.4,0.76,0.79,0.73,null,null,"纯合","无关","有rs号，MAF>=5%",null,"骨髓增生异常综合征",null,614286,5,1,4,2,"ASXL1",0.97,96,"非编码区",14200,"1.00=4/4",null,171023,"20q11","NM_015338.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6443",16,5,0.31,{"$nulls":3},"A有","12308A","ATAD3C","chr1:1403972-1403973","m.2293(E12)至m.2294(E12):插入G","非编码区","rs111566296",0.41,0.63,0.68,0.58,0.055,0.00044,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,7,0,"ATAD3C",1,46,"非编码区",2420,"0.37=7/19",null,219293,"1p36.33","NM_001039211.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1908",180,179,0.99,{"$nulls":3},"A有","12308A","ATL1","chr14:51057727","c.351G>A(E4)","p.117,E>E","rs1060197",0.82,0.84,0.86,0.81,0.83,0.82,"纯合","无关","有rs号，MAF>=5%",null,"遗传性痉挛性截瘫3A型","AD",182600,5,1,1,2,"ATL1",1,260,"同义",13203,"1.00=313/314",null,51062,"14q22.1","NM_001127713.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20340",21,21,1,{"$nulls":3},"A有","12308A","ATP11A","chr13:113536132","c.3330T>C(E29)","p.1110,N>N","rs1290177",0.56,0.59,0.61,0.57,0.5,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ATP11A",1,120,"剪切位点",13202,"1.00=29/29",null,23250,"13q34","NM_032189.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7029",61,61,1,{"$nulls":3},"A有","12308A","ATP13A5","chr3:193036794","c.2019G>C(E17)","p.673,V>V","rs6788770",0.9,0.98,0.99,0.97,0.97,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ATP13A5",1,240,"同义",13203,"0.99=104/105",null,344905,"3q29","NM_198505.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2090",31,13,0.42,{"$nulls":3},"A有","12308A","ATP2C2","chr16:84476200","c.1396A>T(E15)","p.466,M>L","rs247897",0.41,0.45,0.45,0.46,0.46,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ATP2C2",1,100,"错义",12220,"0.32=18/56",null,9914,"16q24.1","NM_014861.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23737",9,2,0.22,{"$nulls":3},"A有","12308A","ATP6V1B1","chr2:71163051","m.54C>T(E1)","非编码区","rs79652147",0.17,0.22,0.25,0.18,0.14,0.24,"杂合","无关","有rs号，MAF>=5%",null,"远端肾小管酸中毒伴神经性耳聋","AR",267300,5,3,5,1,"ATP6V1B1",1,61,"非编码区",14200,"0.33=5/15",null,525,"2p13.1","NM_001692.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25559",27,18,0.67,{"$nulls":3},"A有","12308A","ATP6V1E1","chr22:18075263","m.979T>C(E8)","非编码区","rs3532",0.07,0.058,0.057,0.058,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ATP6V1E1",1,240,"非编码区",14200,"0.68=23/34",null,529,"22q11.1","NM_001039366.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3615",197,87,0.44,{"$nulls":3},"A有","12308A","ATPBD4","chr15:35664298","m.919C>G(E9)","非编码区","rs3759846",0.31,0.27,0.29,0.26,null,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ATPBD4",0.98,260,"非编码区",14200,"0.44=158/359",null,89978,"15q14","NM_080650.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30102",6,6,1,{"$nulls":3},"A有","12308A","ATRAID","chr2:27435250","c.14A>G(E1)","p.5,D>G","rs1275533",0.9,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ATRAID",1,120,"错义",12220,"1.00=7/7",null,51374,"2p23.3","NM_001170795.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20030",28,28,1,{"$nulls":3},"A有","12308A","AXIN1","chr16:396264","c.762A>G(E2)","p.254,D>D","rs1805105",0.64,0.28,0.27,0.29,0.32,0.3,"纯合","无关","有rs号，MAF>=5%",null,"肝癌","AD",114550,5,1,1,2,"AXIN1",0.91,37,"同义",13203,"0.98=42/43",null,8312,"16p13.3","NM_003502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6126",3,2,0.67,{"$nulls":3},"A有","12308A","B3GNT8","chr19:41932275","c.409T>C(E3)","p.137,S>G","rs284662",0.62,0.44,0.41,0.48,0.4,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"B3GNT8",1,6.5,"错义",12220,"0.67=2/3",null,374907,"19q13.2","NM_198540.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5197",220,83,0.38,{"$nulls":3},"A有","12308A","BAGE2","chr21:11038909","m.1295G>T(E6)","非编码区","rs28473122",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,22,0,"BAGE2",0.98,530,"非编码区",14300,"0.38=113/298",null,85319,"21p","NM_182482.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14739",12,12,1,{"$nulls":3},"A有","12308A","BANP","chr16:88052161","c.783C>A(E7)","p.261,L>L","rs7499814",0.58,0.48,0.44,0.51,0.44,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"BANP",0.93,54,"同义",13203,"1.00=17/17",null,54971,"16q24","NM_001173539.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v284",78,78,1,{"$nulls":3},"A有","12308A","BAZ1B","chr7:72891754","c.2037C>T(E7)","p.679,S>S","rs2074754",0.35,0.45,0.45,0.46,0.48,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"BAZ1B",0.98,160,"同义",13203,"1.00=125/125",null,9031,"7q11.23","NM_032408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25716",136,71,0.52,{"$nulls":3},"A有","12308A","BCL2A1","chr15:80263217","c.245C>T(E1)","p.82,G>D","rs3826007",0.2,0.21,0.21,0.21,0.26,0.24,"杂合","无关","有rs号，MAF>=5%",19001137,{"$nulls":3},5,null,4,0,"BCL2A1",1,250,"错义",12210,"0.53=116/217",null,597,"15q24.3","NM_001114735.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22265",65,32,0.49,{"$nulls":3},"A有","12308A","BCMO1","chr16:81279120","c.105T>C(E2)","p.35,N>N","rs28370522",0.38,0.29,0.3,0.28,0.34,0.36,"杂合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传高胡萝卜素血症和维生素A缺陷症","AD",115300,5,1,1,1,"BCMO1",1,160,"同义",13203,"0.47=56/118",null,53630,"16q23.2","NM_017429.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18459",3,3,1,{"$nulls":3},"A有","12308A","BCR","chr22:23657874","m.4577A>G(E23)","非编码区","rs392389",0.47,0.62,0.61,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",null,"急性淋巴细胞白血病（易感）",null,613065,5,1,10,2,"BCR",0.94,48,"非编码区",14200,"1.00=3/3",null,613,"22q11.23","NM_004327.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28831",29,13,0.45,{"$nulls":3},"A有","12308A","BEST1","chr11:61719387","c.109T>C(E2)","p.37,L>L","rs1800007",0.68,0.91,0.9,0.93,0.9,0.91,"杂合","无关","有rs号，MAF>=5%",null,"卵黄状黄斑营养不良","AD",153700,5,1,3,4,"BEST1",1,82,"同义",13203,"0.45=20/44",null,7439,"11q13","NM_004183.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18634",84,40,0.48,{"$nulls":3},"A有","12308A","BIN2","chr12:51675208","m.1825C>T(E13)","非编码区","rs3759175",0.16,0.33,0.32,0.34,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"BIN2",1,110,"非编码区",14200,"0.50=66/131",null,51411,"12q13","NM_016293.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24093",8,4,0.5,{"$nulls":3},"A有","12308A","BIVM-ERCC5","chr13:103528337","m.5129G>A(E23)","非编码区","rs873601",0.55,0.51,0.5,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"BIVM-ERCC5",1,220,"非编码区",14200,"0.50=4/8",null,100533467,"13q","NM_001204425.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27080",11,9,0.82,{"$nulls":3},"A有","12308A","BOC","chr3:112993367","c.1380G>A(E9)","p.460,P>P","rs13094203",0.13,0.15,0.16,0.15,0.11,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"BOC",0.99,61,"同义",13203,"0.83=15/18",null,91653,"3q13.2","NM_033254.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10044",18,18,1,{"$nulls":3},"A有","12308A","BPIFB4","chr20:31673846","c.802A>G(E5)","p.268,I>V","rs2070325",0.47,0.75,0.77,0.74,0.78,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"BPIFB4",1,71,"错义",12220,"1.00=29/29",null,149954,"20q11.21","NM_182519.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18195",58,58,1,{"$nulls":3},"A有","12308A","BRCA2","chr13:32911888","c.3396A>G(E11)","p.1132,K>K","rs1801406",0.27,0.36,0.36,0.35,0.35,0.38,"纯合","无关","有rs号，MAF>=5%","16857995;19276285;19644020;19902366;21346221","范可尼贫血,互补D1组",null,605724,5,1,6,8,"BRCA2",1,180,"同义",13203,"1.00=90/90",null,675,"13q12.3","NM_000059.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18198",79,79,1,{"$nulls":3},"A有","12308A","BRCA2","chr13:32929387","c.7397T>C(E14)","p.2466,V>A","rs169547",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"Wilms瘤1型","AD",194070,5,1,6,8,"BRCA2",1,180,"错义",12230,"0.99=136/137",null,675,"13q12.3","NM_000059.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1432",155,155,1,{"$nulls":3},"A有","12308A","BTBD10","chr11:13441126","c.465A>G(E4)","p.155,N>N","rs7114113",0.15,0.18,0.18,0.18,0.17,0.16,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BTBD10",1,220,"同义",13203,"1.00=236/236",null,84280,"11p15.2","NM_032320.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13165",7,7,1,{"$nulls":3},"A有","12308A","BTBD2","chr19:1986455","m.1610A>G(E9)","非编码区","rs7254820",0.42,0.56,0.57,0.54,null,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"BTBD2",0.74,20,"非编码区",14200,"1.00=9/9",null,55643,"19p13.3","NM_017797.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24308",184,100,0.54,{"$nulls":3},"A有","12308A","C10orf120","chr10:124457452","c.805C>T(E3)","p.269,A>T","rs2947594",0.81,0.76,0.8,0.73,0.8,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C10orf120",1,140,"错义",12220,"0.54=175/323",null,399814,"10q26.13","NM_001010912.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27625",54,54,1,{"$nulls":3},"A有","12308A","C11orf16","chr11:8942999","c.1268G>A(E6)","p.423,A>V","rs2568023",0.92,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"C11orf16",1,64,"错义",12220,"1.00=83/83",null,56673,"11p15.3","NM_020643.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22346",167,137,0.82,{"$nulls":3},"A有","12308A","C11orf40","chr11:4592708-4592709","c.599(E4)至c.598(E4):插入AG","插入移码","rs3064108",{"$nulls":4},0.096,0.46,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"C11orf40",1,180,"插入移码",2130,"0.82=156/191",null,143501,"11p15.5","NM_144663.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28546",9,5,0.56,{"$nulls":3},"A有","12308A","C12orf29","chr12:88429324","m.57G>A(E1)","非编码区","rs117660425",0.035,0.21,0.24,0.18,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"C12orf29",1,250,"非编码区",14100,"0.55=6/11",null,91298,"12q21.32","NM_001009894.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12870",8,8,1,{"$nulls":3},"A有","12308A","C14orf169","chr14:73957772","c.50A>G(E1)","p.17,K>R","rs10144469",{"$nulls":4},0.75,0.86,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"C14orf169",0.8,30,"错义",12320,"1.00=13/13",null,79697,"14q24.3","NM_024644.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14461",83,41,0.49,{"$nulls":3},"A有","12308A","C15orf55","chr15:34638198","m.133A>G(E1)","非编码区","rs12595504",0.2,0.35,0.36,0.34,0.33,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"C15orf55",1,76,"非编码区",14200,"0.54=74/137",null,256646,"15q14","NM_175741.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19453",9,5,0.56,{"$nulls":3},"A有","12308A","C16orf3","chr16:90095597","c.154T>C(E1)","p.52,I>V","rs61118444",0.46,0.69,0.69,0.69,0.29,0.00014,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C16orf3",1,21,"错义",12220,"0.64=9/14",null,750,"16q24.3","NM_001214.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24946",53,30,0.57,{"$nulls":3},"A有","12308A","C17orf66","chr17:34192406","IVS2-6G>A","剪切位点","rs56221144",0.025,0.091,0.09,0.092,null,0.13,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,4,0,"C17orf66",1,120,"剪切位点",16101,"0.53=45/85",null,256957,"17q12","NM_152781.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27522",7,4,0.57,{"$nulls":3},"A有","12308A","C18orf21","chr18:33552598","m.11C>T(E1)","非编码区","rs2298716",0.25,0.27,0.24,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C18orf21",1,220,"非编码区",14200,"0.67=6/9",null,83608,"18q12.2","NM_001201474.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19755",6,3,0.5,{"$nulls":3},"A有","12308A","C19orf21","chr19:757399","c.453A>C(E2)","p.151,A>A","rs3746172",0.24,0.34,0.38,0.3,0.27,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C19orf21",0.96,21,"同义",13203,"0.57=4/7",null,126353,"19p13.3","NM_173481.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22853",8,8,1,{"$nulls":3},"A有","12308A","C1QB","chr1:22987958","m.973A>G(E3)","非编码区","rs10580",0.99,1,1,1,0.99,null,"纯合","无关","有rs号，MAF>=5%",null,"补体成分C1q缺陷症","AR",613652,5,1,1,1,"C1QB",1,49,"非编码区",14200,"1.00=11/11",null,713,"1p36.12","NM_000491.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10637",19,5,0.26,{"$nulls":3},"A有","12308A","C1QTNF6","chr22:37578579","c.486C>T(E3)","p.162,T>T","rs229519",0.46,0.59,0.57,0.61,0.53,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C1QTNF6",1,24,"同义",13203,"0.36=12/33",null,114904,"22q13.1","NM_031910.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2437",4,3,0.75,{"$nulls":3},"A有","12308A","C1orf177","chr1:55271845","c.56C>T(E1)","p.19,T>M","rs72895754",0.045,0.12,0.15,0.097,0.064,0.21,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"C1orf177",1,110,"错义",12120,"0.60=3/5",null,163747,"1p32.3","NM_001110533.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3183",34,21,0.62,{"$nulls":3},"A有","12308A","C20orf194","chr20:3233142","m.3715C>G(E37)","非编码区","rs6037516",0.24,0.18,0.19,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C20orf194",0.98,190,"非编码区",14200,"0.68=44/65",null,25943,"20p13","NM_001009984.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19530",107,52,0.49,{"$nulls":3},"A有","12308A","C20orf72","chr20:17968923","c.846T>C(E4)","p.282,D>D","rs28455091",0.31,0.47,0.49,0.46,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",null,"线粒体DNA缺失综合征11型","AR",615084,5,3,1,1,"C20orf72",1,150,"同义",13203,"0.51=98/192",null,92667,"20p11.23","NM_052865.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23076",19,19,1,{"$nulls":3},"A有","12308A","C2orf70","chr2:26802392","m.692A>T(E4)","非编码区","rs2272467",0.36,0.67,0.65,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C2orf70",0.93,69,"非编码区",14200,"1.00=25/25",null,339778,"2p23.3","NM_001105519.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8519",46,46,1,{"$nulls":3},"A有","12308A","C3","chr19:6702598","IVS17-8G>A","剪切位点","rs406514",0.81,0.92,0.91,0.94,null,0.91,"纯合","无关","有rs号，MAF>=5%",null,"补体成分3缺乏症","AR",613779,5,1,9,3,"C3",1,63,"剪切位点",16202,"1.00=75/75",null,718,"19p13.3-p13.2","NM_000064.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4766",122,120,0.98,{"$nulls":3},"A有","12308A","C3orf33","chr3:155485302","c.350C>T(E5)","p.117,S>N","rs358733",0.84,0.92,0.92,0.91,0.9,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C3orf33",1,190,"错义",12220,"0.99=202/204",null,285315,"3q25.31","NM_173657.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21607",126,126,1,{"$nulls":3},"A有","12308A","C4orf33","chr4:130030652","c.319A>G(E5)","p.107,M>V","rs337277",0.7,0.8,0.78,0.82,0.78,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C4orf33",1,260,"错义",12220,"1.00=195/195",null,132321,"4q28.2","NM_001099783.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30674",21,8,0.38,{"$nulls":3},"A有","12308A","C6orf165","chr6:88174102","m.2126C>G(E13)","非编码区","rs7707",0.3,0.31,0.3,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C6orf165",1,260,"非编码区",14200,"0.41=9/22",null,154313,"6q15","NM_001031743.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30865",186,185,0.99,{"$nulls":3},"A有","12308A","C6orf201","chr6:4122249","c.351C>A(E4)","p.117,N>K","rs643232",0.32,0.38,0.41,0.34,0.37,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C6orf201",1,320,"错义",12220,"0.99=354/356",null,404220,"6p25.2","NM_001085401.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27976",31,15,0.48,{"$nulls":3},"A有","12308A","C7orf69","chr7:47859239","m.458C>A(E3)","非编码区","rs3757379",0.43,0.64,0.68,0.6,null,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C7orf69",0.71,140,"非编码区",14200,"0.43=16/37",null,80099,"7p12.3","NM_025031.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14676",54,54,1,{"$nulls":3},"A有","12308A","C9orf131","chr9:35043291","c.560G>T(E2)","p.187,W>L","rs615474",0.65,0.45,0.48,0.42,0.47,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C9orf131",1,100,"错义",12220,"1.00=73/73",null,138724,"9p13.3","NM_001040410.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14322",63,26,0.41,{"$nulls":3},"A有","12308A","C9orf174","chr9:100133973","c.4717G>A(E34)","p.1573,D>N","rs2306093",0.03,0.087,0.062,0.11,0.099,0.1,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"C9orf174",0.9,98,"错义",12110,"0.38=40/105",null,100499483,"9q22.33","NM_020893.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v320",25,6,0.24,{"$nulls":3},"A有","12308A","CA11","chr19:49141407-49141410","IVS8-6至IVS8-9:缺失AGAC","非编码区","rs137896889",0.42,0.35,0.32,0.37,0.033,0.3,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"CA11",1,48,"非编码区",2500,"0.24=7/29",null,770,"19q13.3","NM_001217.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1980",57,25,0.44,{"$nulls":3},"A有","12308A","CACNA1C","chr12:2694638","c.2436C>T(E17)","p.812,D>D","rs215976",0.15,0.31,0.29,0.32,0.27,0.34,"杂合","无关","有rs号，MAF>=5%","16642433;20031608","Brugada综合征3型",null,611875,5,2,8,2,"CACNA1C",1,88,"同义",13203,"0.40=38/95",null,775,"12p13.3","NM_000719.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6691",70,70,1,{"$nulls":3},"A有","12308A","CACNA1S","chr1:201044748","IVS12-5A>G","剪切位点","rs1998721",0.76,0.95,0.95,0.95,0.95,0.96,"纯合","无关","有rs号，MAF>=5%",null,"恶性高热易感5型",null,601887,5,1,6,3,"CACNA1S",1,78,"剪切位点",16202,"1.00=120/120",null,779,"1q32","NM_000069.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6693",49,18,0.37,{"$nulls":3},"A有","12308A","CACNA1S","chr1:201052283","IVS10+7G>A","非编码区","rs3767512",0.055,0.2,0.18,0.22,0.16,0.17,"杂合","无关","有rs号，MAF>=5%",null,"低血钾性周期性麻痹1型","AD",170400,5,1,6,3,"CACNA1S",1,78,"非编码区",16203,"0.30=24/81",null,779,"1q32","NM_000069.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18398",3,3,1,{"$nulls":3},"A有","12308A","CALHM1","chr10:105218252","c.257A>G(E1)","p.86,L>P","rs2986017",0.87,0.89,0.88,0.91,0.77,0.89,"纯合","无关","有rs号，MAF>=5%","18585350;19070563;19191331;19191332;19472444;19749425;20061624;20164573;20164592;20574532;21378601;21439911;22874670;24326043;24630757;24851016",{"$nulls":3},5,null,3,0,"CALHM1",1,14,"错义",12220,"1.00=3/3",null,255022,"10q24.33","NM_001001412.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18972",21,7,0.33,{"$nulls":3},"A有","12308A","CAMTA2","chr17:4875566","c.2775T>C(E15)","p.925,P>P","rs238230",0.58,0.39,0.39,0.4,0.33,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CAMTA2",1,64,"同义",13203,"0.42=15/36",null,23125,"17p13.2","NM_001171166.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16718",3,3,1,{"$nulls":3},"A有","12308A","CAPN12","chr19:39221295","m.2666A>G(E21)","非编码区","rs1060186",0.68,0.59,0.59,0.59,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CAPN12",0.98,32,"非编码区",14200,"1.00=3/3",null,147968,"19q13.2","NM_144691.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18464",68,33,0.49,{"$nulls":3},"A有","12308A","CAPN2","chr1:223934720","c.348G>A(E5)","p.116,A>A","rs17600",null,0.73,0.75,0.7,0.68,0.68,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"CAPN2",0.98,100,"同义",13303,"0.45=59/130",null,824,"1q41-q42","NM_001146068.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8903",21,11,0.52,{"$nulls":3},"A有","12308A","CARS","chr11:3028140","c.2118G>A(E19)","p.706,P>P","rs729662",0.35,0.63,0.64,0.63,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CARS",1,110,"同义",13203,"0.50=18/36",null,833,"11p15.5","NM_001014437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19177",11,9,0.82,{"$nulls":3},"A有","12308A","CASKIN2","chr17:73510012","m.424A>T(E2)","非编码区","rs4789206",0.65,0.54,0.55,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CASKIN2",0.88,15,"非编码区",14200,"0.83=10/12",null,57513,"17q25.1","NM_020753.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2853",16,16,1,{"$nulls":3},"A有","12308A","CASR","chr3:122003045","c.2244G>C(E7)","p.748,P>P","rs2036400",0.97,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"新生儿严重型甲状旁腺功能亢进症","AR",239200,5,1,4,4,"CASR",1,72,"同义",13203,"1.00=18/18",null,846,"3q13","NM_000388.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21481",50,31,0.62,{"$nulls":3},"A有","12308A","CATSPERD","chr19:5772897","c.1862C>T(E20)","p.621,S>L","rs78536254",0.11,0.36,0.37,0.35,0.35,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CATSPERD",1,140,"错义",12210,"0.61=58/95",null,257062,"19p13.3","NM_152784.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13037",108,42,0.39,{"$nulls":3},"A有","12308A","CBLB","chr3:105438957","c.1341T>G(E10)","p.447,L>L","rs2305036",0.21,0.23,0.26,0.2,0.24,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CBLB",1,210,"同义",13203,"0.39=75/194",null,868,"3q13.11","NM_170662.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6113",55,27,0.49,{"$nulls":3},"A有","12308A","CC2D2A","chr4:15482322","IVS4-6C>T","剪切位点","rs1861049",0.23,0.16,0.18,0.15,0.12,0.18,"杂合","无关","有rs号，MAF>=5%",null,"Joubert综合征9型","AR",612285,5,3,5,3,"CC2D2A",0.98,220,"剪切位点",16202,"0.48=43/90",null,57545,"4p15.32","NM_001080522.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22468",54,54,1,{"$nulls":3},"A有","12308A","CCDC111","chr4:185578229","IVS2-7G>T","剪切位点","rs13108061",0.41,0.29,0.3,0.27,null,null,"纯合","无关","有rs号，MAF>=5%",null,"近视22","AD",615420,5,1,2,1,"CCDC111",1,200,"剪切位点",16202,"1.00=76/76",null,201973,"4q35.1","NM_152683.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1870",30,12,0.4,{"$nulls":3},"A有","12308A","CCDC129","chr7:31683410","c.2456G>A(E12)","p.819,C>Y","rs10247620",0.76,0.86,0.82,0.9,0.86,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"CCDC129",0.94,100,"错义",12210,"0.42=18/43",null,223075,"7p14.3","NM_001257967.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11897",195,99,0.51,{"$nulls":3},"A有","12308A","CCDC148","chr2:159195282","c.462C>T(E5)","p.154,Q>Q","rs16842890",0.2,0.23,0.24,0.22,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCDC148",0.97,250,"同义",13203,"0.49=146/296",null,130940,"2q24.1","NM_001171637.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2935",39,39,1,{"$nulls":3},"A有","12308A","CCDC168","chr13:103394716","c.8331T>C(E4)","p.2777,T>T","rs9585987",0.69,0.58,0.58,0.58,0.54,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"CCDC168",1,120,"同义",13203,"1.00=49/49",null,643677,"13q33.1","NM_001146197.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13017",64,27,0.42,{"$nulls":3},"A有","12308A","CCDC170","chr6:151939181","c.2047G>A(E11)","p.683,V>I","rs3734804",0.53,0.41,0.42,0.4,0.4,0.42,"杂合","无关","有rs号，MAF>=5%",20661439,{"$nulls":3},5,null,6,0,"CCDC170",0.97,140,"错义",12220,"0.44=53/120",null,80129,"6q25.1","NM_025059.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20659",178,178,1,{"$nulls":3},"A有","12308A","CCDC175","chr14:60004844","c.1520C>T(E13)","p.507,G>E","rs4261431",0.53,0.84,0.81,0.87,0.84,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCDC175",1,260,"错义",12220,"1.00=313/314",null,729665,"14q23.1","NM_001164399.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21626",12,7,0.58,{"$nulls":3},"A有","12308A","CCDC40","chr17:78073355","c.3210A>G(E20)","p.1070,T>T","rs56407805",0.39,0.45,0.46,0.45,0.38,0.41,"杂合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍15型",null,613808,5,2,6,1,"CCDC40",0.93,51,"同义",13203,"0.50=12/24",null,55036,"17q25.3","NM_017950.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16275",86,86,1,{"$nulls":3},"A有","12308A","CCDC66","chr3:56627598","c.1046A>G(E9)","p.349,Q>R","rs1491170",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CCDC66",1,220,"错义",12220,"0.99=136/138",null,285331,"3p14.3","NM_001012506.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15674",13,13,1,{"$nulls":3},"A有","12308A","CCDC71","chr3:49200692","c.950T>A(E2)","p.317,Q>L","rs4955419",0.71,0.94,0.95,0.93,0.87,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC71",1,29,"错义",12220,"1.00=20/20",null,64925,"3p21.31","NM_022903.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14960",53,21,0.4,{"$nulls":3},"A有","12308A","CCDC88C","chr14:91883129","c.114G>A(E2)","p.38,Y>Y","rs45437097",0.11,0.019,0.0048,0.034,0.043,0.029,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑共济失调40型","AD",616053,5,1,1,2,"CCDC88C",0.88,42,"同义",13203,"0.39=31/79",null,440193,"14q32.11","NM_001080414.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9133",147,78,0.53,{"$nulls":3},"A有","12308A","CCL26","chr7:75398998","m.406A>C(E4)","非编码区","rs2302009",0.28,0.12,0.15,0.083,null,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CCL26",1,180,"非编码区",14200,"0.49=130/264",null,10344,"7q11.23","NM_006072.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10699",8,3,0.38,{"$nulls":3},"A有","12308A","CCNT1","chr12:49110582","m.200C>G(E1)","非编码区","rs2291728",0.43,0.73,0.73,0.73,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCNT1",1,130,"非编码区",14200,"0.36=4/11",null,904,"12q13.11","NM_001240.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16095",16,11,0.69,{"$nulls":3},"A有","12308A","CCT8L2","chr22:17073066","c.375A>G(E1)","p.125,A>A","rs5747988",0.87,0.67,0.7,0.65,0.62,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCT8L2",1,71,"同义",13203,"0.74=17/23",null,150160,"22q11.1","NM_014406.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16993",32,12,0.38,{"$nulls":3},"A有","12308A","CD151","chr11:837582","c.579G>A(E6)","p.193,G>G","rs1130663",0.64,0.88,0.9,0.86,0.76,0.86,"杂合","无关","有rs号，MAF>=5%",20403199,"RAPH血型系统",null,179620,5,2,1,2,"CD151",1,35,"同义",13203,"0.41=23/56",null,977,"11p15.5","NM_001039490.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11097",8,8,1,{"$nulls":3},"A有","12308A","CD209","chr19:7807027","m.1772A>G(E5)","非编码区","rs7248637",0.77,0.69,0.73,0.64,null,null,"纯合","无关","有rs号，MAF>=5%",null,"人类免疫缺陷病毒易感1型",null,609423,5,1,5,3,"CD209",1,110,"非编码区",14200,"1.00=8/8",null,30835,"19p13","NM_001144893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22146",35,20,0.57,{"$nulls":3},"A有","12308A","CD37","chr19:49839015","c.114T>C(E2)","p.38,I>I","rs354021",null,0.79,0.81,0.77,0.75,0.81,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"CD37",1,55,"同义",13303,"0.60=34/57",null,951,"19q13.3","NM_001774.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15892",187,96,0.51,{"$nulls":3},"A有","12308A","CD44","chr11:35201842","c.255C>T(E3)","p.85,H>H","rs1071695",0.14,0.087,0.086,0.087,0.088,0.08,"杂合","无关","有rs号，MAF>=5%",null,"INDIAN血型系统",null,609027,5,2,4,1,"CD44",0.99,240,"同义",13203,"0.51=168/329",null,960,"11p13","NM_000610.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17469",8,7,0.88,{"$nulls":3},"A有","12308A","CD93","chr20:23065209","c.1621G>A(E1)","p.541,P>S","rs3746731",0.54,0.66,0.64,0.67,0.57,0.65,"杂合","无关","有rs号，MAF>=5%","18599554;21332844",{"$nulls":3},5,null,5,0,"CD93",0.99,25,"错义",12210,"0.90=9/10",null,22918,"20p11.21","NM_012072.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7521",13,5,0.38,{"$nulls":3},"A有","12308A","CDC5L","chr6:44355399","m.149G>T(E1)","非编码区","rs2297334",0.29,0.62,0.6,0.64,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CDC5L",1,250,"非编码区",14200,"0.33=5/15",null,988,"6p21","NM_001253.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28603",90,89,0.99,{"$nulls":3},"A有","12308A","CDCA7L","chr7:21956405","c.30G>A(E3)","p.10,C>C","rs1128250",0.31,0.53,0.54,0.52,0.53,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CDCA7L",1,160,"同义",13203,"0.99=151/152",null,55536,"7p15.3","NM_001127370.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3264",169,95,0.56,{"$nulls":3},"A有","12308A","CDH19","chr18:64176365","c.1695G>T(E11)","p.565,T>T","rs1055335",0.25,0.2,0.2,0.2,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CDH19",1,220,"同义",13203,"0.52=150/286",null,28513,"18q22.1","NM_021153.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15008",34,34,1,{"$nulls":3},"A有","12308A","CDH23","chr10:73571765","c.2653T>C(E19)","p.885,F>L","rs45583140",0.095,0.25,0.25,0.25,0.22,0.25,"纯合","无关","有rs号，MAF>=5%","24767429;18429043","尤塞氏综合症ID型","AR",601067,5,1,23,2,"CDH23",1,57,"错义",12220,"0.98=54/55",null,64072,"10q22.1","NM_001171933.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5429",30,15,0.5,{"$nulls":3},"A有","12308A","CDH6","chr5:31317952","c.1803T>C(E11)","p.601,H>H","rs2229575",0.39,0.48,0.49,0.48,0.46,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDH6",1,190,"同义",13203,"0.48=21/44",null,1004,"5p13.3","NM_004932.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29207",135,58,0.43,{"$nulls":3},"A有","12308A","CDHR3","chr7:105671267","c.2334T>C(E18)","p.778,D>D","rs10270308",0.21,0.39,0.38,0.39,0.35,0.4,"杂合","无关","有rs号，MAF>=5%",20833655,{"$nulls":3},5,null,3,0,"CDHR3",1,210,"同义",13203,"0.45=107/238",null,222256,"7q22.3","NM_152750.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18383",68,35,0.51,{"$nulls":3},"A有","12308A","CDON","chr11:125851055","c.3165A>G(E17)","p.1055,N>N","rs564214",0.27,0.075,0.057,0.092,0.11,0.085,"杂合","无关","有rs号，MAF>=5%",null,"前脑无裂畸形11型",null,614226,5,2,5,1,"CDON",1,150,"同义",13203,"0.56=61/109",null,50937,"11q23-q24","NM_001243597.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24897",23,23,1,{"$nulls":3},"A有","12308A","CDSN","chr6:31084684","c.708G>A(E2)","p.236,S>S","rs3094215",0.65,0.72,0.77,0.67,0.68,0.71,"纯合","无关","有rs号，MAF>=5%",null,"稀毛症2型/单纯性头皮稀毛症1型","AD",146520,5,1,9,2,"CDSN",0.82,24,"同义",13203,"1.00=34/34",null,1041,"6p21.3","NM_001264.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12089",29,14,0.48,{"$nulls":3},"A有","12308A","CDYL","chr6:4715882","otherA>G","非编码区","rs3812183",0.43,0.47,0.49,0.44,null,null,"杂合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,2,0,"CDYL",0.99,120,"非编码区",17000,"0.51=18/35",null,9425,"6p25.1","NM_001143970.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25387",58,58,1,{"$nulls":3},"A有","12308A","CEBPZ","chr2:37456032","c.304C>T(E2)","p.102,V>I","rs2098386",0.94,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CEBPZ",1,210,"错义",12220,"1.00=88/88",null,10153,"2p22.2","NM_005760.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19276",29,29,1,{"$nulls":3},"A有","12308A","CELSR2","chr1:109807099","c.5313G>A(E11)","p.1771,P>P","rs6689614",0.35,0.5,0.48,0.52,0.47,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CELSR2",0.98,41,"同义",13203,"0.98=42/43",null,1952,"1p21","NM_001408.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23894",83,49,0.59,{"$nulls":3},"A有","12308A","CENPF","chr1:214814571","c.2890C>T(E12)","p.964,L>L","rs3795521",0.24,0.096,0.071,0.12,0.084,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CENPF",1,120,"同义",13203,"0.55=78/141",null,1063,"1q41","NM_016343.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17885",93,92,0.99,{"$nulls":3},"A有","12308A","CEP104","chr1:3761479","c.558C>T(E6)","p.186,T>T","rs2275822",0.35,0.34,0.32,0.36,0.33,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CEP104",1,150,"同义",13203,"0.99=156/157",null,9731,"1p36.32","NM_014704.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18285",180,84,0.47,{"$nulls":3},"A有","12308A","CEP290","chr12:88508258","c.1991T>C(E20)","p.664,D>G","rs79705698",0.045,0.082,0.062,0.1,0.11,0.13,"杂合","可能相关","蛋白结构预测结果为有害",null,"Leber先天性黑蒙10型",null,611755,2,2,3,5,"CEP290",1,290,"错义",12110,"0.45=140/308",null,80184,"12q21.32","NM_025114.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27677",182,92,0.51,{"$nulls":3},"A有","12308A","CEP70","chr3:138244400","c.876C>T(E11)","p.292,T>T","rs9878436",0.31,0.05,0.052,0.049,0.066,0.049,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CEP70",1,300,"同义",13203,"0.49=164/332",null,80321,"3q22.3","NM_024491.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27579",26,15,0.58,{"$nulls":3},"A有","12308A","CERS4","chr19:8321937","c.717C>T(E9)","p.239,H>H","rs1127912",0.23,0.22,0.24,0.2,0.24,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CERS4",1,62,"同义",13203,"0.58=28/48",null,79603,"19p13.2","NM_024552.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28316",335,100,0.3,{"$nulls":3},"A有","12308A","CFH","chr1:196712586","c.3138C>T(E20)","p.1046,T>T","rs61822181",{"$nulls":4},0.35,0.36,"杂合","未知","预测范围之外的同义突变",null,"年龄相关性黄斑变性4型",null,610698,4,2,5,4,"CFH",1,300,"同义",13303,"0.27=147/546",null,3075,"1q32","NM_000186.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27021",55,29,0.53,{"$nulls":3},"A有","12308A","CFLAR","chr2:202028714","m.1954C>T(E10)","非编码区","rs78787499",0.0074,0.029,0.043,0.015,null,0.043,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"CFLAR",0.95,120,"非编码区",14100,"0.52=42/81",null,8837,"2q33-q34","NM_001127183.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25862",78,78,1,{"$nulls":3},"A有","12308A","CGREF1","chr2:27323468","m.1773A>C(E6)","非编码区","rs4665371",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CGREF1",1,84,"非编码区",14200,"1.00=129/129",null,10669,"2p23.3","NM_001166239.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4587",91,44,0.48,{"$nulls":3},"A有","12308A","CHD3","chr17:7806346","c.3639T>C(E22)","p.1213,F>F","rs74903197",7.6E-3,0.055,0.057,0.053,0.059,0.049,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"CHD3",0.98,90,"同义",13103,"0.46=67/146",null,1107,"17p13.1","NM_001005271.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24636",11,11,1,{"$nulls":3},"A有","12308A","CHI3L1","chr1:203155882","m.41G>C(E1)","非编码区","rs4950928",0.79,0.85,0.84,0.85,0.83,null,"纯合","无关","有rs号，MAF>=5%",null,"精神分裂症9型",null,604906,5,1,3,2,"CHI3L1",1,92,"非编码区",14200,"1.00=11/11",null,1116,"1q32.1","NM_001276.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21121",148,148,1,{"$nulls":3},"A有","12308A","CHL1","chr3:391100","c.859A>G(E9)","p.287,T>A","rs13060847",0.85,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CHL1",1,250,"错义",12220,"1.00=281/282",null,10752,"3p26.1","NM_001253387.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26976",74,73,0.99,{"$nulls":3},"A有","12308A","CHRNA3","chr15:78909452","c.291T>C(E4)","p.97,K>K","rs3743075",0.63,0.56,0.54,0.57,0.52,0.57,"纯合","无关","有rs号，MAF>=5%","18165968;18519524;19443489;20808433","吸烟数量性状位点3",null,612052,5,1,3,1,"CHRNA3",0.95,120,"同义",13203,"0.98=113/115",null,1136,"15q24","NM_000743.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25308",11,11,1,{"$nulls":3},"A有","12308A","CHTF18","chr16:840409","IVS6+10T>C","非编码区","rs3765264",0.15,0.22,0.23,0.21,0.2,0.23,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CHTF18",0.9,10,"非编码区",16203,"1.00=15/15",null,63922,"16p13.3","NM_022092.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29046",25,16,0.64,{"$nulls":3},"A有","12308A","CIDEC","chr3:9908749","m.872G>C(E7)","非编码区","rs1053239",0.22,0.6,0.57,0.63,null,0.6,"杂合","无关","有rs号，MAF>=5%",null,"家族局部性脂肪代谢障碍5型","AR",615238,5,3,1,1,"CIDEC",1,78,"非编码区",14200,"0.56=25/45",null,63924,"3p25.3","NM_001199551.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19092",75,75,1,{"$nulls":3},"A有","12308A","CKAP2L","chr2:113513825","c.1123T>C(E4)","p.375,I>V","rs6731822",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null," Filippi综合征","AR",272440,5,1,2,1,"CKAP2L",1,160,"错义",12220,"1.00=118/118",null,150468,"2q13","NM_152515.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1692",36,36,1,{"$nulls":3},"A有","12308A","CLCNKB","chr1:16374533","c.492G>C(E5)","p.164,G>G","rs2014562",0.89,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"巴特综合征 III型(经典型)","AR",607364,5,1,16,2,"CLCNKB",1,68,"同义",13203,"1.00=59/59",null,1188,"1p36","NM_000085.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1702",95,68,0.72,{"$nulls":3},"A有","12308A","CLCNKB","chr1:16376191","c.860C>T(E9)","p.287,A>V","rs7367494",0.83,1,1,1,0.55,1,"杂合","无关","有rs号，MAF>=5%",null,"巴特综合征 III型(经典型)","AR",607364,5,3,16,2,"CLCNKB",1,68,"错义",12220,"0.70=110/158",null,1188,"1p36","NM_000085.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11634",2,2,1,{"$nulls":3},"A有","12308A","CLEC12B","chr12:10170161","m.2643G>T(E5)","非编码区","rs1054611",0.58,0.85,0.86,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CLEC12B",1,160,"非编码区",14200,"1.00=3/3",null,387837,"12p13.2","NM_205852.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11067",112,61,0.54,{"$nulls":3},"A有","12308A","CLIP4","chr2:29356567","c.414G>C(E5)","p.138,L>L","rs17749904",0.12,0.017,0.0095,0.024,0.01,0.0083,"杂合","无关","有rs号，MAF>=5%",16467561,{"$nulls":3},5,null,2,0,"CLIP4",1,270,"同义",13203,"0.59=124/211",null,79745,"2p23.2","NM_024692.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20116",12,3,0.25,{"$nulls":3},"A有","12308A","CLRN1","chr3:150644839","m.1913T>G(E4)","非编码区","rs12635299",0.15,0.33,0.35,0.31,null,0.43,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性61型-AR",null,614180,5,2,4,2,"CLRN1",0.96,140,"非编码区",14200,"0.21=3/14",null,7401,"3q25","NM_001195794.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20114",5,2,0.4,{"$nulls":3},"A有","12308A","CLRN1","chr3:150661842","m.182T>G(E1)","非编码区","rs11914988",0.27,0.42,0.46,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性61型-AR",null,614180,5,2,4,2,"CLRN1",0.96,140,"非编码区",14200,"0.40=2/5",null,7401,"3q25","NM_052995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29854",14,14,1,{"$nulls":3},"A有","12308A","CNNM1","chr10:101090428","c.1284T>G(E1)","p.428,V>V","rs2862600",0.87,0.83,0.82,0.84,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CNNM1",0.66,65,"同义",13203,"1.00=20/20",null,26507,"10q24.2","NM_020348.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11688",83,83,1,{"$nulls":3},"A有","12308A","CNNM2","chr10:104814162","c.1842T>C(E3)","p.614,S>S","rs2275271",0.43,0.61,0.64,0.57,0.51,0.56,"纯合","无关","有rs号，MAF>=5%",null,"低镁血症6型","AD",613882,5,1,2,1,"CNNM2",1,94,"同义",13203,"1.00=158/158",null,54805,"10q24.32","NM_017649.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9654",126,104,0.83,{"$nulls":3},"A有","12308A","CNTN5","chr11:99690286","c.67T>G(E3)","p.23,S>A","rs10790978",{"$nulls":4},0.42,0.42,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"CNTN5",1,250,"错义",12320,"0.82=173/212",null,53942,"11q21-q22.2","NM_001243270.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7149",29,29,1,{"$nulls":3},"A有","12308A","COBL","chr7:51096036","c.2757G>C(E10)","p.919,H>Q","rs2240089",0.2,0.32,0.34,0.3,0.23,0.29,"纯合","无关","有rs号，MAF>=5%",16175505,{"$nulls":3},5,null,7,0,"COBL",0.99,78,"错义",12220,"1.00=45/45",null,23242,"7p12.1","NM_015198.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9876",5,2,0.4,{"$nulls":3},"A有","12308A","COBRA1","chr9:140167022","c.1551G>A(E12)","p.517,P>P","rs3204123",null,0.42,0.4,0.44,0.38,0.52,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"COBRA1",0.98,25,"同义",13303,"0.43=3/7",null,25920,"9q34","NM_015456.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3477",199,98,0.49,{"$nulls":3},"A有","12308A","COL11A1","chr1:103354428","c.4395A>G(E59)","p.1465,G>G","rs1763347",0.62,0.75,0.75,0.75,0.74,0.73,"杂合","无关","有rs号，MAF>=5%",null,"纤维软骨增生症1型","AR",228520,5,3,4,4,"COL11A1",1,280,"同义",13203,"0.52=164/318",null,1301,"1p21","NM_001190709.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28100",19,9,0.47,{"$nulls":3},"A有","12308A","COL15A1","chr9:101778265","c.1511G>T(E11)","p.504,G>V","rs2297603",0.085,0.23,0.28,0.18,0.19,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"COL15A1",0.99,130,"错义",12210,"0.41=11/27",null,1306,"9q21-q22","NM_001855.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6946",43,43,1,{"$nulls":3},"A有","12308A","COL17A1","chr10:105801253","c.2595G>A(E37)","p.865,R>R","rs4918079",0.67,0.8,0.77,0.83,0.79,0.79,"纯合","无关","有rs号，MAF>=5%",16252234,"非赫利茨型交界型大疱性表皮松解症","AR",226650,5,1,9,1,"COL17A1",0.98,92,"同义",13203,"1.00=70/70",null,1308,"10q24.3","NM_000494.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19747",210,108,0.51,{"$nulls":3},"A有","12308A","COL1A2","chr7:94027699","c.87T>C(E3)","p.29,T>T","rs1801182",0.21,0.36,0.38,0.34,0.33,0.48,"杂合","无关","有rs号，MAF>=5%",21602843,"成骨不全3型","AD",259420,5,1,5,6,"COL1A2",1,200,"同义",13203,"0.51=199/391",null,1278,"7q22.1","NM_000089.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12221",29,13,0.45,{"$nulls":3},"A有","12308A","COL22A1","chr8:139824057","c.1434G>A(E9)","p.478,C>C","rs10101430",0.48,0.53,0.53,0.53,0.43,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"COL22A1",1,130,"同义",13203,"0.35=14/40",null,169044,"8q24.3","NM_152888.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11866",17,9,0.53,{"$nulls":3},"A有","12308A","COL27A1","chr9:116931666","c.1831A>T(E3)","p.611,I>F","rs2567705",0.29,0.12,0.16,0.087,0.096,0.13,"杂合","无关","有rs号，MAF>=5%",null,"Steel综合征","AR",615155,5,3,8,1,"COL27A1",0.99,65,"错义",12220,"0.54=13/24",null,85301,"9q32","NM_032888.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26825",57,32,0.56,{"$nulls":3},"A有","12308A","COL4A1","chr13:110827574","c.3189T>A(E37)","p.1063,R>R","rs874203",0.32,0.27,0.3,0.23,0.27,0.29,"杂合","无关","有rs号，MAF>=5%",null,"家族性脑穿通1型","AD",175780,5,1,10,4,"COL4A1",0.98,150,"同义",13203,"0.54=49/90",null,1282,"13q34","NM_001845.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10112",17,6,0.35,{"$nulls":3},"A有","12308A","COL4A2","chr13:111130519","IVS30+8C>T","非编码区","rs2281974",0.47,0.5,0.46,0.54,0.48,0.51,"杂合","无关","有rs号，MAF>=5%",null,"脑出血、中风（易感）",null,614519,5,2,11,2,"COL4A2",1,95,"非编码区",16203,"0.37=10/27",null,1284,"13q34","NM_001846.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20803",126,62,0.49,{"$nulls":3},"A有","12308A","COL4A3","chr2:228118867","c.805G>A(E14)","p.269,E>K","rs80109666",0.061,0.15,0.18,0.13,0.15,0.15,"杂合","无关","有rs号，MAF>=5%",null,"良性家族性血尿","AD",141200,5,1,7,3,"COL4A3",0.98,200,"错义",12220,"0.48=103/213",null,1285,"2q36-q37","NM_000091.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5037",20,14,0.7,{"$nulls":3},"A有","12308A","COL6A2","chr21:47538960","c.1196G>A(E14)","p.399,S>N","rs2839110",0.71,0.87,0.85,0.89,0.82,0.87,"杂合","无关","有rs号，MAF>=5%",null,"Bethlem肌病","AD,AR",158810,5,1,6,3,"COL6A2",1,17,"错义",12220,"0.61=22/36",null,1292,"21q22.3","NM_001849.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16703",5,3,0.6,{"$nulls":3},"A有","12308A","COL7A1","chr3:48625266","c.2817T>C(E21)","p.939,P>P","rs1264194",0.68,0.37,0.32,0.42,0.36,0.38,"杂合","无关","有rs号，MAF>=5%",null,"表皮松解症伴先天性皮肤局部缺失和指甲畸形","AD",132000,5,1,1,7,"COL7A1",1,51,"同义",13203,"0.62=5/8",null,1294,"3p21.1","NM_000094.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8366",15,9,0.6,{"$nulls":3},"A有","12308A","COL9A2","chr1:40770456","IVS22+10A>T","非编码区","rs117563156",0.02,0.014,0.019,0.0097,0.014,0.019,"杂合","未知","内含子突变可能影响调控",null,"椎间盘疾病（易感）",null,603932,4,2,3,3,"COL9A2",0.98,47,"非编码区",16103,"0.54=13/24",null,1298,"1p33-p32","NM_001852.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1190",10,4,0.4,{"$nulls":3},"A有","12308A","COQ10A","chr12:56664231","m.891C>T(E5)","非编码区","rs77131854",0.032,0.026,0.024,0.029,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"COQ10A",0.94,91,"非编码区",14100,"0.40=4/10",null,93058,"12q13.3","NM_001099337.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17553",161,160,0.99,{"$nulls":3},"A有","12308A","CPA4","chr7:129938598","c.81G>T(E2)","p.27,L>F","rs34587586",0.36,0.4,0.39,0.41,0.38,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CPA4",1,140,"错义",12220,"0.99=279/281",null,51200,"7q32","NM_001163446.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8382",5,2,0.4,{"$nulls":3},"A有","12308A","CPLX4","chr18:56963697","m.903T>A(E3)","非编码区","rs75707948",0.071,0.25,0.25,0.26,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CPLX4",1,240,"非编码区",14200,"0.29=2/7",null,339302,"18q21.32","NM_181654.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30425",105,52,0.5,{"$nulls":3},"A有","12308A","CPNE3","chr8:87570728","m.1866C>T(E17)","非编码区","rs1062851",0.4,0.22,0.22,0.21,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CPNE3",1,280,"非编码区",14200,"0.53=69/130",null,8895,"8q21.3","NM_003909.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2310",20,20,1,{"$nulls":3},"A有","12308A","CPXM1","chr20:2777828","IVS6+10G>T","非编码区","rs742707",0.35,0.37,0.39,0.34,null,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CPXM1",1,49,"非编码区",16203,"1.00=25/25",null,56265,"20p13","NM_001184699.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30896",98,97,0.99,{"$nulls":3},"A有","12308A","CR2","chr1:207653395","c.3185C>A(E18)","p.1062,A>E","rs17617",0.94,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"普通变异性免疫缺陷病7型","AR",614699,5,1,1,2,"CR2",0.98,190,"错义",12220,"0.98=179/182",null,1380,"1q32","NM_001006658.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7",23,21,0.91,{"$nulls":3},"A有","12308A","CREB3L1","chr11:46342082-46342082","IVS11+3:缺失G","非编码区","rs67946579",1,1,1,1,0.14,1,"纯合","无关","内含子突变",{"$nulls":4},5,null,2,0,"CREB3L1",1,55,"非编码区",2500,"0.92=22/24",null,90993,"11p11.2","NM_052854.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27919",30,16,0.53,{"$nulls":3},"A有","12308A","CROCC","chr1:17264939","c.1335T>C(E11)","p.445,D>D","rs4558023",{"$nulls":4},0.3,0.48,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"CROCC",0.77,13,"同义",13303,"0.52=25/48",null,9696,"1p36.13","NM_014675.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4643",138,63,0.46,{"$nulls":3},"A有","12308A","CS","chr12:56679751","c.150A>G(E3)","p.50,T>T","rs1802236",0.033,0.026,0.024,0.029,0.04,0.029,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"CS",1,180,"同义",13103,"0.45=110/246",null,1431,"12q13.2","NM_004077.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31689",5,5,1,{"$nulls":3},"A有","12308A","CSF2RB","chr22:37333794","c.1944A>G(E14)","p.648,P>P","rs131840",0.8,0.92,0.91,0.93,0.8,0.95,"纯合","无关","有rs号，MAF>=5%","18804346;24895604","肺泡蛋白沉着症5型","AR",614370,5,1,2,1,"CSF2RB",1,28,"同义",13203,"1.00=6/6",null,1439,"22q13.1","NM_000395.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17166",117,117,1,{"$nulls":3},"A有","12308A","CSMD3","chr8:113308243","IVS51-8A>G","剪切位点","rs4876462",0.41,0.45,0.42,0.48,null,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CSMD3",1,270,"剪切位点",16201,"0.99=197/199",null,114788,"8q23.3","NM_052900.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13719",24,9,0.38,{"$nulls":3},"A有","12308A","CST5","chr20:23860178","c.136A>G(E1)","p.46,C>R","rs1799841",0.57,0.5,0.49,0.51,0.46,0.48,"杂合","无关","有rs号，MAF>=5%","15767273;20189825",{"$nulls":3},5,null,2,0,"CST5",1,89,"错义",12220,"0.35=14/40",null,1473,"20p11.21","NM_001900.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7405",133,131,0.98,{"$nulls":3},"A有","12308A","CTAGE1","chr18:19995753","c.2022T>C(E1)","p.674,P>P","rs9946145",0.69,0.79,0.74,0.83,0.84,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CTAGE1",1,200,"同义",13203,"0.99=227/230",null,64693,"18p11.2","NM_172241.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15503",67,30,0.45,{"$nulls":3},"A有","12308A","CTNNA2","chr2:80801346","c.1800T>C(E13)","p.600,V>V","rs2228460",0.24,0.35,0.34,0.36,0.34,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CTNNA2",1,160,"同义",13203,"0.47=48/103",null,1496,"2p12-p11.1","NM_001164883.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23539",145,145,1,{"$nulls":3},"A有","12308A","CTSZ","chr20:57571763","c.732A>G(E5)","p.244,S>S","rs9760",0.7,0.79,0.79,0.78,0.8,0.79,"纯合","无关","有rs号，MAF>=5%",17601350,{"$nulls":3},5,null,3,0,"CTSZ",0.89,91,"同义",13203,"1.00=259/259",null,1522,"20q13.32","NM_001336.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31066",183,91,0.5,{"$nulls":3},"A有","12308A","CUL2","chr10:35338699","IVS5-6G>A","剪切位点","rs7900480",0.37,0.35,0.36,0.34,0.31,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CUL2",0.98,280,"剪切位点",16202,"0.49=165/337",null,8453,"10p11.21","NM_001198777.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13664",16,6,0.38,{"$nulls":3},"A有","12308A","CUX2","chr12:111779792","c.3594C>T(E21)","p.1198,I>I","rs16941414",0.11,0.12,0.13,0.097,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CUX2",0.88,35,"同义",13203,"0.36=9/25",null,23316,"12q24.12","NM_015267.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22614",108,49,0.45,{"$nulls":3},"A有","12308A","CXCL12","chr10:44871346","m.493G>A(E4)","非编码区","rs17881575",0.062,0.094,0.09,0.097,null,0.095,"杂合","无关","有rs号，MAF>=5%",null,"人类免疫缺陷病毒易感1型",null,609423,5,2,1,1,"CXCL12",0.86,120,"非编码区",14200,"0.45=83/183",null,6387,"10q11.1","NM_001033886.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11106",66,33,0.5,{"$nulls":3},"A有","12308A","CYB5R2","chr11:7686674","c.762T>C(E9)","p.254,L>L","rs13854",0.77,0.76,0.77,0.74,0.72,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CYB5R2",1,160,"同义",13203,"0.52=59/114",null,51700,"11p15.4","NM_016229.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6829",53,24,0.45,{"$nulls":3},"A有","12308A","CYP11B1","chr8:143956693","c.1157G>A(E7)","p.386,A>V","rs4541",{"$nulls":4},0.39,0.4,"杂合","未知","蛋白结构预测结果为容忍或无害","15102677;24658007","糖皮质激素可治疗的醛固酮过多症","AD",103900,3,1,5,2,"CYP11B1",1,43,"错义",12320,"0.44=37/85",null,1584,"8q21","NM_000497.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20476",51,18,0.35,{"$nulls":3},"A有","12308A","CYP21A2","chr6:32006949","c.371C>T(E3)","p.124,T>I","rs566065375",0.0024,0.0096,0.0095,0.0097,1.9E-3,0.011,"杂合","可能相关","蛋白结构预测结果为有害",null,"21-羟化酶缺陷导致的先天性肾上腺皮质增生症","AR",201910,2,3,4,1,"CYP21A2",0.94,62,"错义",12110,"0.34=29/86",null,1589,"6p21.3","NM_000500.7","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4919",14,14,1,{"$nulls":3},"A有","12308A","CYP2A6","chr19:41349640","m.1567G>C(E9)","非编码区","rs7248240",0.55,0.58,0.63,0.53,null,null,"纯合","无关","有rs号，MAF>=5%",null,"华法林抵抗","AD",122700,5,1,4,3,"CYP2A6",1,130,"非编码区",14200,"1.00=17/17",null,1548,"19q13.2","NM_000762.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13356",67,28,0.42,{"$nulls":3},"A有","12308A","CYP2E1","chr10:135352514","m.1561A>G(E9)","非编码区","rs2480256",0.54,0.55,0.56,0.53,null,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CYP2E1",1,110,"非编码区",14200,"0.38=41/108",null,1571,"10q24.3-qter","NM_000773.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7699",79,40,0.51,{"$nulls":3},"A有","12308A","CYP4F11","chr19:16040292","c.318A>G(E3)","p.106,I>I","rs3765070",0.49,0.41,0.39,0.43,0.42,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CYP4F11",1,95,"同义",13203,"0.48=65/136",null,57834,"19p13.1","NM_001128932.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4774",57,56,0.98,{"$nulls":3},"A有","12308A","CYP4F3","chr19:15769529","IVS11-8G>T","剪切位点","rs4646518",0.53,0.61,0.6,0.62,0.62,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CYP4F3",1,78,"剪切位点",16202,"0.99=87/88",null,4051,"19p13.2","NM_000896.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19155",17,17,1,{"$nulls":3},"A有","12308A","DAK","chr11:61108974","c.553G>A(E6)","p.185,A>T","rs2260655",0.79,0.97,0.98,0.97,0.93,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DAK",0.96,31,"错义",12220,"1.00=27/27",null,26007,"11q12.2","NM_015533.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v374",6,6,1,{"$nulls":3},"A有","12308A","DCAF4L1","chr4:41985101","m.1389A>G(E1)","非编码区","rs2660332",0.66,0.96,0.94,0.98,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DCAF4L1",1,97,"非编码区",14200,"1.00=8/8",null,285429,"4p13","NM_001029955.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10414",3,3,1,{"$nulls":3},"A有","12308A","DCAF6","chr1:167906239","c.90A>C(E1)","p.30,R>R","rs203788",1,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DCAF6",0.93,240,"同义",13203,"1.00=4/4",null,55827,"1q24.2","NM_001017977.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3361",91,44,0.48,{"$nulls":3},"A有","12308A","DCHS1","chr11:6650684","c.5160T>A(E12)","p.1720,T>T","rs117031105",0.0072,0.012,0.0095,0.015,0.027,0.031,"杂合","可能相关","mRNA剪接可能会受影响",null,"Van Maldergem综合征1型","AR",601390,2,3,6,1,"DCHS1",0.95,35,"剪切位点",13101,"0.48=75/157",null,8642,"11p15.4","NM_003737.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31426",153,73,0.48,{"$nulls":3},"A有","12308A","DCTN5","chr16:23677006","c.408A>G(E5)","p.136,P>P","rs35586",0.23,0.45,0.43,0.48,0.43,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DCTN5",0.8,160,"同义",13203,"0.48=148/306",null,84516,"16p12.2","NM_001199743.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8159",17,17,1,{"$nulls":3},"A有","12308A","DDX11","chr12:31249861","c.1699C>G(E17)","p.567,Q>E","rs2075322",0.64,0.83,0.82,0.83,0.74,0.84,"纯合","无关","有rs号，MAF>=5%",null,"华沙染色体断裂综合征","AR",613398,5,1,8,1,"DDX11",0.99,160,"错义",12220,"1.00=25/25",null,1663,"12p11","NM_001257144.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27189",77,36,0.47,{"$nulls":3},"A有","12308A","DDX25","chr11:125788678","c.1194T>C(E10)","p.398,C>C","rs683155",0.69,0.69,0.7,0.67,0.67,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DDX25",0.96,150,"同义",13203,"0.48=67/139",null,29118,"11q24","NM_013264.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13198",152,59,0.39,{"$nulls":3},"A有","12308A","DDX60","chr4:169158531","c.4317T>C(E32)","p.1439,V>V","rs3805396",0.075,0.13,0.12,0.14,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"DDX60",1,290,"同义",13203,"0.35=87/249",null,55601,"4q32.3","NM_017631.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7135",105,105,1,{"$nulls":3},"A有","12308A","DDX60L","chr4:169341435","c.2491A>G(E18)","p.831,C>R","rs2130145",0.99,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"DDX60L",1,280,"错义",12220,"0.99=186/187",null,91351,"4q32.3","NM_001012967.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24464",3,3,1,{"$nulls":3},"A有","12308A","DENND1A","chr9:126144746","c.1995T>C(E22)","p.665,G>G","rs2491348",0.98,1,1,1,0.84,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DENND1A",0.99,100,"同义",13203,"1.00=4/4",null,57706,"9q33.3","NM_020946.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28809",41,19,0.46,{"$nulls":3},"A有","12308A","DES","chr2:220285273","c.792C>T(E4)","p.264,D>D","rs150370918",0.0042,0.0048,0,0.0097,0.0032,0.00081,"杂合","未知","预测范围之外的同义突变",null,"扩张性心肌病1I型",null,604765,4,2,4,4,"DES",0.97,34,"同义",13103,"0.51=36/70",null,1674,"2q35","NM_001927.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5544",7,5,0.71,{"$nulls":3},"A有","12308A","DFNB31","chr9:117186712","c.169C>T(E6)","p.57,A>T","rs4978584",0.23,0.31,0.3,0.32,0.29,0.34,"杂合","无关","有rs号，MAF>=5%",20352026,"常染色体隐性遗传耳聋31型",null,607084,5,2,7,2,"DFNB31",0.88,23,"错义",12210,"0.62=5/8",null,25861,"9q32","NM_001083885.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26946",3,3,1,{"$nulls":3},"A有","12308A","DGKE","chr17:54940391","m.2123A>G(E12)","非编码区","rs8071009",0.7,0.95,0.95,0.94,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肾病综合征7型","AR",615008,5,1,2,1,"DGKE",1,190,"非编码区",14200,"1.00=4/4",null,8526,"17q22","NM_003647.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14079",68,38,0.56,{"$nulls":3},"A有","12308A","DHX32","chr10:127530325","c.1530T>C(E7)","p.510,A>A","rs3208565",0.45,0.31,0.3,0.32,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DHX32",1,160,"同义",13203,"0.51=59/115",null,55760,"10q26.2","NM_018180.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2418",29,15,0.52,{"$nulls":3},"A有","12308A","DHX38","chr16:72139184","c.2316C>A(E17)","p.772,A>A","rs2074626",0.48,0.29,0.28,0.31,0.26,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"DHX38",1,76,"同义",13203,"0.51=24/47",null,9785,"16q22","NM_014003.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16173",6,5,0.83,{"$nulls":3},"A有","12308A","DIP2A","chr21:47974582","c.3057A>G(E25)","p.1019,T>T","rs1107065",0.33,0.36,0.37,0.35,0.28,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"DIP2A",0.98,90,"同义",13203,"0.88=7/8",null,23181,"21q22.3","NM_001146114.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8285",17,6,0.35,{"$nulls":3},"A有","12308A","DKK2","chr4:107956663","c.86C>A(E1)","p.29,G>V","rs146980091",0.019,0.089,0.09,0.087,0.084,0.087,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"DKK2",1,170,"错义",12120,"0.46=11/24",null,27123,"4q25","NM_014421.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5072",33,33,1,{"$nulls":3},"A有","12308A","DLG4","chr17:7099811","c.1158G>A(E10)","p.386,I>I","rs17203281",0.25,0.31,0.29,0.33,0.31,0.3,"纯合","无关","有rs号，MAF>=5%","12444087;17093888",{"$nulls":3},5,null,2,0,"DLG4",1,61,"同义",13203,"1.00=52/52",null,1742,"17p13.1","NM_001128827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26752",171,81,0.47,{"$nulls":3},"A有","12308A","DLGAP5","chr14:55643908","c.921A>G(E8)","p.307,F>F","rs10144326",0.35,0.25,0.26,0.24,0.21,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DLGAP5",1,290,"同义",13203,"0.45=139/310",null,9787,"14q22.3","NM_001146015.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30131",34,18,0.53,{"$nulls":3},"A有","12308A","DMBT1","chr10:124402677","c.5121A>G(E40)","p.1707,P>P","rs1052715",0.64,0.64,0.65,0.64,0.66,0.69,"杂合","无关","有rs号，MAF>=5%",16642439,{"$nulls":3},5,null,25,0,"DMBT1",1,190,"同义",13203,"0.60=35/58",null,1755,"10q26.13","NM_004406.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26124",49,49,1,{"$nulls":3},"A有","12308A","DMXL2","chr15:51791559","c.3862A>G(E18)","p.1288,S>P","rs12102203",0.44,0.44,0.43,0.44,0.39,0.42,"纯合","无关","有rs号，MAF>=5%",19023099,"多内分泌腺病-多发性神经病变综合征","AR",616113,5,1,7,1,"DMXL2",1,220,"错义",12220,"1.00=74/74",null,23312,"15q21.2","NM_001174116.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24760",72,32,0.44,{"$nulls":3},"A有","12308A","DNAAF1","chr16:84208335","IVS10+7G>T","非编码区","rs3826151",0.26,0.42,0.36,0.48,0.38,0.36,"杂合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍13型","AR",613193,5,3,9,1,"DNAAF1",1,120,"非编码区",16203,"0.44=58/133",null,123872,"16q24.1","NM_178452.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v663",6,3,0.5,{"$nulls":3},"A有","12308A","DNAH11","chr7:21941028","m.13760T>C(E82)","非编码区","rs547875413",0.0002,0,0,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"原发性纤毛运动障碍7型（伴或不伴内脏异位）","AR",611884,3,3,15,1,"DNAH11",1,210,"非编码区",14100,"0.50=3/6",null,8701,"7p21","NM_003777.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16371",54,54,1,{"$nulls":3},"A有","12308A","DNAH17","chr17:76498692","c.5171C>T(E33)","p.1724,R>K","rs930571",0.93,0.96,0.96,0.96,0.97,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,25,0,"DNAH17",1,70,"错义",12220,"1.00=88/88",null,8632,"17q25.3","NM_173628.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31636",59,29,0.49,{"$nulls":3},"A有","12308A","DNAH5","chr5:13865980","c.4152T>C(E27)","p.1384,T>T","rs7703349",0.47,0.29,0.3,0.29,0.27,0.33,"杂合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍3型（伴或不伴内脏异位）",null,608644,5,2,14,1,"DNAH5",1,210,"同义",13203,"0.53=45/85",null,1767,"5p15.2","NM_001369.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18183",26,5,0.19,{"$nulls":3},"A有","12308A","DNAH7","chr2:196602582-196602583","m.12239(E65)至m.12238(E65):插入AAT","非编码区","rs75708451",0.4,0.29,0.28,0.31,0,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,9,0,"DNAH7",1,240,"非编码区",2420,"0.18=5/28",null,56171,"2q32.3","NM_018897.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17493",17,17,1,{"$nulls":3},"A有","12308A","DNAJC1","chr10:22048330","c.1365C>T(E11)","p.455,A>A","rs9045",0.13,0.23,0.2,0.26,0.2,0.18,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DNAJC1",0.98,180,"同义",13203,"1.00=27/27",null,64215,"10p12.31","NM_022365.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v833",50,50,1,{"$nulls":3},"A有","12308A","DNHD1","chr11:6550004","c.2090A>G(E11)","p.697,Q>R","rs2344828",0.73,0.85,0.87,0.83,0.82,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"DNHD1",1,65,"错义",12210,"1.00=78/78",null,144132,"11p15.4","NM_144666.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29811",147,77,0.52,{"$nulls":3},"A有","12308A","DNM3","chr1:171956803","c.243C>T(E3)","p.81,A>A","rs3736790",0.34,0.18,0.19,0.17,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DNM3",0.99,230,"同义",13203,"0.51=124/244",null,26052,"1q24.3","NM_001136127.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23056",131,80,0.61,{"$nulls":3},"A有","12308A","DOCK5","chr8:25222165","c.3068A>G(E30)","p.1023,Q>R","rs2271111",0.25,0.36,0.35,0.36,0.35,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"DOCK5",0.99,190,"错义",12220,"0.63=146/233",null,80005,"8p21.2","NM_024940.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14411",20,20,1,{"$nulls":3},"A有","12308A","DOK3","chr5:176930135","c.904G>A(E6)","p.302,R>C","rs28376231",0.99,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DOK3",0.92,18,"错义",12220,"1.00=27/27",null,79930,"5q35.3","NM_001144875.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21150",105,51,0.49,{"$nulls":3},"A有","12308A","DPCR1","chr6:30920086","c.3845C>T(E2)","p.1282,T>M","rs79792575",0.049,0.07,0.052,0.087,0.076,0.063,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"DPCR1",1,120,"错义",12120,"0.46=75/162",null,135656,"6p21.33","NM_080870.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29187",149,74,0.5,{"$nulls":3},"A有","12308A","DPY19L2","chr12:63954304","c.2265T>C(E22)","p.755,L>L","rs1054891",0.43,0.28,0.28,0.28,0.26,0.28,"杂合","无关","有rs号，MAF>=5%",null,"精子生成障碍9","AR",613958,5,3,5,1,"DPY19L2",1,280,"同义",13203,"0.51=127/251",null,283417,"12q14.2","NM_173812.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1490",282,149,0.53,{"$nulls":3},"A有","12308A","DSC1","chr18:28722039","c.1183G>A(E9)","p.395,L>L","rs2577075",0.34,0.56,0.56,0.57,0.56,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DSC1",1,270,"同义",13203,"0.54=250/461",null,1823,"18q12.1","NM_004948.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4269",6,4,0.67,{"$nulls":3},"A有","12308A","DSCAML1","chr11:117391966","c.1272G>A(E6)","p.424,R>R","rs2276340",0.2,0.25,0.23,0.26,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"DSCAML1",0.98,40,"同义",13203,"0.70=7/10",null,57453,"11q23","NM_020693.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4135",110,110,1,{"$nulls":3},"A有","12308A","DSP","chr6:7563983","c.741T>G(E6)","p.247,A>A","rs2806234",null,1,1,1,0.99,1,"纯合","未知","预测范围之外的同义突变",null,"致心律失常性右室发育不良8","AD",607450,4,1,7,6,"DSP",1,120,"同义",13303,"1.00=196/196",null,1832,"6p24","NM_001008844.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4132",65,36,0.55,{"$nulls":3},"A有","12308A","DSP","chr6:7580958","c.4535A>G(E23)","p.1512,Y>C","rs2076299",0.2,0.3,0.3,0.31,0.25,0.3,"杂合","无关","有rs号，MAF>=5%",null,"致心律失常性右室发育不良8","AD",607450,5,1,7,6,"DSP",1,120,"错义",12220,"0.56=64/114",null,1832,"6p24","NM_004415.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22111",96,19,0.2,{"$nulls":3},"A有","12308A","DSPP","chr4:88536317-88536319","c.2503(E5)至c.2505(E5):缺失AGC","缺失非移码","rs143008261",0.083,0.053,0.057,0.049,0.025,0.095,"杂合","未知","有rs号，MAF>=5%的非移码突变",null,"牙本质发育不全2型","AD",125420,4,1,24,4,"DSPP",1,150,"缺失非移码",2222,"0.21=21/101",null,1834,"4q21.3","NM_014208.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22085",37,36,0.97,{"$nulls":3},"A有","12308A","DSPP","chr4:88536883","c.3069T>C(E5)","p.1023,N>N","rs111066820",0.71,0.71,0.66,0.76,0.64,0.3,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性耳聋39型并牙本质发育不全1","AD",605594,5,1,24,4,"DSPP",1,150,"同义",13203,"0.92=59/64",null,1834,"4q21.3","NM_014208.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22105",45,23,0.51,{"$nulls":3},"A有","12308A","DSPP","chr4:88536919","c.3105T>C(E5)","p.1035,D>D","rs369387818",{"$nulls":4},0.12,null,"杂合","未知","预测范围之外的同义突变",null,"牙质形成不全，SHIELDS3型","AD",125500,4,1,24,4,"DSPP",1,150,"同义",13303,"0.54=38/70",null,1834,"4q21.3","NM_014208.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14803",65,31,0.48,{"$nulls":3},"A有","12308A","DST","chr6:56417282","c.8439C>T(E42)","p.2813,M>I","rs4715630",0.79,0.81,0.82,0.81,0.81,0.8,"杂合","无关","有rs号，MAF>=5%",null,"遗传性感觉自主神经病6型","AR",614653,5,3,8,2,"DST",1,170,"错义",12220,"0.49=43/88",null,667,"6p12.1","NM_015548.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28298",39,20,0.51,{"$nulls":3},"A有","12308A","DUOX2","chr15:45392075","c.3200G>A(E25)","p.1067,S>L","rs269868",0.72,0.95,0.95,0.95,0.9,0.94,"杂合","无关","有rs号，MAF>=5%",16608528,"甲状腺激素生成障碍6型","AR",607200,5,3,8,1,"DUOX2",1,81,"错义",12210,"0.46=26/56",null,50506,"15q15.3","NM_014080.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25867",169,91,0.54,{"$nulls":3},"A有","12308A","DUSP12","chr1:161722204","c.624C>T(E4)","p.208,T>T","rs1063179",0.17,0.25,0.25,0.24,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",21211013,{"$nulls":3},5,null,2,0,"DUSP12",1,190,"同义",13203,"0.52=163/315",null,11266,"1q21-q22","NM_007240.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12501",48,48,1,{"$nulls":3},"A有","12308A","DVL2","chr17:7132556","c.855C>T(E8)","p.285,Q>Q","rs222837",null,0.64,0.62,0.66,0.68,0.65,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"DVL2",1,42,"同义",13303,"1.00=74/74",null,1856,"17p13.1","NM_004422.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6863",103,102,0.99,{"$nulls":3},"A有","12308A","DZIP3","chr3:108403198","IVS27+10T>C","非编码区","rs12635729",0.21,0.59,0.58,0.61,null,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DZIP3",1,270,"非编码区",16203,"0.99=180/182",null,9666,"3q13.13","NM_014648.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9549",25,25,1,{"$nulls":3},"A有","12308A","EDA2R","chrX:65822607","c.385T>C(E5)","p.129,T>A","rs1385698",null,1,1,1,0.95,1,"纯合","未知","未知",{"$nulls":4},3,null,2,0,"EDA2R",1,43,"错义",12330,"1.00=37/37",null,60401,"Xq12","NM_001199687.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9225",45,45,1,{"$nulls":3},"A有","12308A","EDAR","chr2:109513601","c.1109A>G(E12)","p.370,V>A","rs3827760",0.24,0.92,0.9,0.94,0.91,0.91,"纯合","无关","有rs号，MAF>=5%","16255080;18561327;18817904;19737746;19804850;22749789","常隐性少汗型外胚层发育不良","AR",224900,5,1,4,3,"EDAR",1,63,"错义",12220,"1.00=63/63",null,10913,"2q13","NM_022336.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18434",50,23,0.46,{"$nulls":3},"A有","12308A","EEF1D","chr8:144662353","c.1734G>A(E9)","p.578,A>A","rs1062391",0.37,0.37,0.37,0.36,0.35,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"EEF1D",0.88,20,"同义",13203,"0.42=35/83",null,1936,"8q24.3","NM_001130053.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6629",12,12,1,{"$nulls":3},"A有","12308A","EFEMP2","chr11:65636053","c.775T>C(E8)","p.259,I>V","rs601314",0.89,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性皮肤松弛症1B型","AR",614437,5,1,1,1,"EFEMP2",1,29,"错义",12220,"1.00=19/19",null,30008,"11q13.1","NM_016938.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30446",69,69,1,{"$nulls":3},"A有","12308A","EGFL6","chrX:13651155","c.1606G>A(E12)","p.536,D>N","rs16979033",null,0.11,0.11,0.11,0.091,0.12,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"EGFL6",1,110,"错义",12310,"1.00=125/125",null,25975,"Xp22","NM_001167890.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1348",4,2,0.5,{"$nulls":3},"A有","12308A","EHD2","chr19:48244194","c.1137A>G(E6)","p.379,L>L","rs7255434",0.5,0.57,0.6,0.53,0.45,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"EHD2",0.96,19,"同义",13203,"0.43=3/7",null,30846,"19q13.3","NM_014601.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13866",46,23,0.5,{"$nulls":3},"A有","12308A","EIF2C1","chr1:36359669","c.681A>G(E6)","p.227,P>P","rs2296470",0.31,0.72,0.7,0.74,0.73,0.72,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"EIF2C1",1,110,"同义",13203,"0.47=41/88",null,26523,"1p34.3","NM_012199.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13903",139,139,1,{"$nulls":3},"A有","12308A","EIF4B","chr12:53433486","c.1755C>T(E14)","p.585,S>S","rs8916",0.75,0.84,0.86,0.83,0.83,0.84,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EIF4B",1,220,"剪切位点",13201,"1.00=249/249",null,1975,"12q13.13","NM_001417.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18720",270,208,0.77,{"$nulls":3},"A有","12308A","ELMO1","chr7:37355590-37355591","UTR:插入T","非编码区","rs11383031",1,1,1,1,0.18,1,"杂合","无关","不在基因上的突变",{"$nulls":4},5,null,2,0,"ELMO1",1,190,"非编码区",2600,"0.75=223/296",null,9844,"7p14.1","NM_001039459.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11206",40,17,0.42,{"$nulls":3},"A有","12308A","EMILIN2","chr18:2891478","c.1353T>C(E4)","p.451,N>N","rs3810067",0.076,0.18,0.17,0.18,0.16,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EMILIN2",0.89,70,"同义",13203,"0.43=26/61",null,84034,"18p11.3","NM_032048.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v900",93,37,0.4,{"$nulls":3},"A有","12308A","EMR1","chr19:6919602","c.1308G>A(E12)","p.436,S>S","rs537322666",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"EMR1",1,140,"同义",13303,"0.39=61/157",null,2015,"19p13.3","NM_001256252.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24420",6,6,1,{"$nulls":3},"A有","12308A","ENOSF1","chr18:671057","m.3455C>T(E16)","非编码区","rs2853535",0.5,0.68,0.69,0.67,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ENOSF1",0.85,160,"非编码区",14200,"1.00=6/6",null,55556,"18p11.32","NM_001126123.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v117",121,53,0.44,{"$nulls":3},"A有","12308A","EP300","chr22:41553259","c.3348G>A(E18)","p.1116,Q>Q","rs20554",0.087,0.22,0.24,0.19,0.17,0.21,"杂合","无关","有rs号，MAF>=5%",null,"结肠癌","AD",114500,5,1,4,2,"EP300",1,130,"同义",13203,"0.42=82/193",null,2033,"22q13.2","NM_001429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25702",44,44,1,{"$nulls":3},"A有","12308A","EPCAM","chr2:47601106","c.344T>C(E3)","p.115,M>T","rs1126497",0.67,0.82,0.82,0.83,0.81,0.83,"纯合","无关","有rs号，MAF>=5%","20683652;22322561","遗传性非息肉性结直肠癌8型（Lynch综合征）",null,613244,5,1,2,2,"EPCAM",1,230,"错义",12220,"0.98=65/66",null,4072,"2p21","NM_002354.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14537",129,65,0.5,{"$nulls":3},"A有","12308A","EPHX1","chr1:226019633","c.337T>C(E3)","p.113,Y>H","rs1051740",0.31,0.45,0.47,0.43,0.41,0.46,"杂合","无关","有rs号，MAF>=5%","17048007;17054776;17160896;17548691;17885617;18191955;18298806;18439551;18603647;18632753;18978678;18990750;18992148;18992263;19017876;19127076;19131562;19479063;20233420;20932192;21190234;21453055;21480392;21653646;22200898;22569204;22994552;23175176;23797950;24084248;24357096;24698387;24895604;24944790","子痫前期/子痫1型","AD",189800,5,1,4,2,"EPHX1",1,95,"错义",12210,"0.49=108/219",null,2052,"1q42.1","NM_000120.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28356",66,30,0.45,{"$nulls":3},"A有","12308A","ERAP1","chr5:96118852","c.2188G>C(E15)","p.730,Q>E","rs27044",0.68,0.53,0.53,0.52,0.53,0.49,"杂合","无关","有rs号，MAF>=5%","19404951;19414429;19433412;19692350;20032103;20595269;21229357;21833528;21865284;21877190;22355039;22896742;23800305;24971029;25019531",{"$nulls":3},5,null,11,0,"ERAP1",1,200,"错义",12220,"0.46=41/90",null,51752,"5q15","NM_001040458.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31707",21,21,1,{"$nulls":3},"A有","12308A","ERCC2","chr19:45868309","c.468T>G(E6)","p.156,R>R","rs238406",0.64,0.51,0.47,0.55,0.52,0.52,"纯合","无关","有rs号，MAF>=5%","16212814;18544627;18635523;18709642;18815927;19124499;19458053;19536092;22579466;23147699","毛发硫营养障碍症 (光敏型伴鱼鳞病)","AR",601675,5,1,1,3,"ERCC2",0.96,47,"同义",13203,"1.00=32/32",null,2068,"19q13.3","NM_000400.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v36",94,94,1,{"$nulls":3},"A有","12308A","ERCC5","chr13:103527930","c.3238G>C(E15)","p.1080,G>R","rs9514067",null,1,1,1,0.98,1,"纯合","未知","未知",null,"着色性干皮病,互补群G","AR",278780,3,1,5,1,"ERCC5",1,200,"错义",12330,"0.99=140/141",null,2073,"13q33","NM_000123.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16054",71,71,1,{"$nulls":3},"A有","12308A","ERV3-1","chr7:64452738","c.667G>A(E2)","p.223,R>X","rs67047829",0.12,0.17,0.2,0.15,0.18,0.18,"纯合","无关","理论上这种无义突变会导致蛋白翻译提前终止，高频MAF>=5%",{"$nulls":4},5,null,7,0,"ERV3-1",1,100,"截断",15200,"1.00=114/114",null,2086,"7q11.2","NM_001007253.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9510",79,43,0.54,{"$nulls":3},"A有","12308A","ESR1","chr6:152265522","c.975G>C(E4)","p.325,P>P","rs1801132",0.72,0.49,0.48,0.51,0.51,0.51,"杂合","无关","有rs号，MAF>=5%","15113403;15157284;15217512;16292600;16504171;17116097;17268813;17609999;18053221;18271972;18350145;18445666;18450649;18511131;18636479;18680103;18787887;18990228;19175383;19194457;19218192;19319135;19375130;19654868;19673915;19693267;19760036;19884274;19941161;20046055;20109228;20172949;20383761;21429951;21528353;22011627;22324545;23567436;24395301;25200861;25228414","有或无先兆的偏头痛（易感）","AD",157300,5,1,2,4,"ESR1",1,84,"同义",13203,"0.60=72/120",null,2099,"6q25.1","NM_000125.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6894",73,73,1,{"$nulls":3},"A有","12308A","ETAA1","chr2:67630980","c.1166G>A(E5)","p.389,S>N","rs3770657",0.73,0.56,0.57,0.54,0.51,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ETAA1",1,160,"错义",12220,"1.00=106/106",null,54465,"2p14","NM_019002.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v208",50,22,0.44,{"$nulls":3},"A有","12308A","EVC","chr4:5749961","c.1026G>C(E8)","p.342,L>L","rs4688962",0.58,0.64,0.66,0.63,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",20184732,"Weyers头面骨发育不全综合征","AD",193530,5,1,13,2,"EVC",0.94,90,"同义",13203,"0.44=40/90",null,2121,"4p16","NM_153717.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23481",22,22,1,{"$nulls":3},"A有","12308A","EXOC3L1","chr16:67221050","IVS5-9A>G","剪切位点","rs9924876",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"EXOC3L1",0.97,20,"剪切位点",16202,"1.00=39/39",null,283849,"16q22.1","NM_178516.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13685",16,10,0.62,{"$nulls":3},"A有","12308A","EXOSC5","chr19:41903220","c.14G>A(E1)","p.5,T>M","rs10853751",0.61,0.44,0.41,0.47,0.44,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"EXOSC5",1,26,"错义",12220,"0.72=18/25",null,56915,"19q13.1","NM_020158.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30801",90,50,0.56,{"$nulls":3},"A有","12308A","EYS","chr6:66204945","c.359G>A(E4)","p.120,T>M","rs12193967",0.17,0.26,0.25,0.27,0.26,0.24,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性25型-AR",null,602772,5,2,10,1,"EYS",1,210,"错义",12220,"0.56=87/154",null,346007,"6q12","NM_001142800.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11311",44,28,0.64,{"$nulls":3},"A有","12308A","F5","chr1:169529973","c.405C>T(E4)","p.135,A>A","rs6029",0.4,0.7,0.74,0.66,0.66,0.67,"杂合","无关","有rs号，MAF>=5%","17677000;18974842","习惯性流产1型（易感）","AD",614389,5,1,5,5,"F5",1,180,"同义",13203,"0.68=52/76",null,2153,"1q23","NM_000130.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11078",21,21,1,{"$nulls":3},"A有","12308A","FABP6","chr5:159665726","m.660C>T(E6)","非编码区","rs10071871",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FABP6",1,100,"非编码区",14200,"1.00=28/28",null,2172,"5q33.3-q34","NM_001040442.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4089",8,8,1,{"$nulls":3},"A有","12308A","FAM115C","chr7:143417083","c.931T>C(E3)","p.311,C>R","rs62486261",{"$nulls":4},0.34,0.58,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"FAM115C",0.84,30,"错义",12310,"1.00=11/11",null,285966,"7q35","NM_001130025.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1855",92,41,0.45,{"$nulls":3},"A有","12308A","FAM13A","chr4:89670155","c.1131C>T(E11)","p.377,P>P","rs3756050",0.53,0.56,0.59,0.54,0.52,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FAM13A",1,190,"同义",13203,"0.46=78/169",null,10144,"4q22.1","NM_001015045.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1201",123,53,0.43,{"$nulls":3},"A有","12308A","FAM161A","chr2:62069358","c.321T>C(E2)","p.107,I>M","rs11125895",0.16,0.14,0.09,0.19,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性28型-AR",null,606068,5,2,4,1,"FAM161A",0.92,130,"错义",12220,"0.41=77/187",null,84140,"2p15","NM_001201543.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27017",62,36,0.58,{"$nulls":3},"A有","12308A","FAM170A","chr5:118969960","c.376C>T(E2)","p.126,P>S","rs328694",0.44,0.51,0.51,0.51,0.5,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAM170A",1,100,"错义",12210,"0.59=60/102",null,340069,"5q23.1","NM_001163991.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29662",17,9,0.53,{"$nulls":3},"A有","12308A","FAM186A","chr12:50745858","c.4757T>G(E4)","p.1586,E>A","rs374020295",0.28,0.3,0.28,0.32,0.44,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"FAM186A",1,100,"错义",12220,"0.52=16/31",null,121006,"12q13.12","NM_001145475.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29668",16,8,0.5,{"$nulls":3},"A有","12308A","FAM186A","chr12:50745863","c.4752C>G(E4)","p.1584,A>A","rs12317337",0.35,0.39,0.39,0.39,0.45,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"FAM186A",1,100,"同义",13203,"0.48=15/31",null,121006,"12q13.12","NM_001145475.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22314",3,3,1,{"$nulls":3},"A有","12308A","FAM198B","chr4:159048217","m.2333G>A(E6)","非编码区","rs4691455",0.82,0.93,0.94,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FAM198B",1,120,"非编码区",14200,"1.00=3/3",null,51313,"4q32.1","NM_001031700.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28519",39,39,1,{"$nulls":3},"A有","12308A","FAM208B","chr10:5790420","c.5036T>C(E15)","p.1679,V>A","rs2669142",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"FAM208B",1,150,"错义",12230,"1.00=56/56",null,54906,"10p15.1","NM_017782.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3150",17,17,1,{"$nulls":3},"A有","12308A","FAM214B","chr9:35107858","c.414C>T(E3)","p.138,S>S","rs7039828",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FAM214B",0.95,65,"同义",13203,"1.00=30/30",null,80256,"9p13.3","NM_025182.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2401",15,7,0.47,{"$nulls":3},"A有","12308A","FAM22F","chr9:97082699","c.1159G>A(E5)","p.387,P>S","rs10993163",0.18,0.37,0.42,0.32,0.34,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FAM22F",0.99,64,"错义",12210,"0.39=9/23",null,54754,"9q22.32","NM_017561.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25843",29,29,1,{"$nulls":3},"A有","12308A","FAM63A","chr1:150970577","c.728G>T(E8)","p.243,T>K","rs2925741",0.94,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FAM63A",1,77,"错义",12230,"1.00=41/41",null,55793,"1q21.3","NM_001040217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17404",18,7,0.39,{"$nulls":3},"A有","12308A","FAM71A","chr1:212799870","c.1651A>G(E1)","p.551,N>D","rs3122713",0.78,0.62,0.65,0.6,0.57,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FAM71A",1,59,"错义",12220,"0.35=11/31",null,149647,"1q32.3","NM_153606.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1536",39,39,1,{"$nulls":3},"A有","12308A","FAM96A","chr15:64385851","c.117T>C(E1)","p.39,E>E","rs332259",0.92,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FAM96A",1,250,"同义",13203,"1.00=72/72",null,84191,"15q22.31","NM_001014812.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31347",50,21,0.42,{"$nulls":3},"A有","12308A","FANCE","chr6:35430686","c.1504G>A(E9)","p.502,A>T","rs9462088",0.19,0.11,0.11,0.11,0.094,0.11,"杂合","无关","有rs号，MAF>=5%",null,"范可尼贫血,互补E组","AR",600901,5,3,2,1,"FANCE",0.94,80,"错义",12210,"0.32=28/87",null,2178,"6p22-p21","NM_021922.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15910",116,60,0.52,{"$nulls":3},"A有","12308A","FARP1","chr13:98896776","c.203C>T(E3)","p.68,T>I","rs7318267",0.38,0.6,0.59,0.62,0.56,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FARP1",1,130,"错义",12220,"0.51=97/189",null,10160,"13q32.2","NM_001001715.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19255",83,40,0.48,{"$nulls":3},"A有","12308A","FAT1","chr4:187540635","c.7105T>G(E10)","p.2369,T>P","rs77834784",0.067,0.21,0.2,0.22,0.2,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,28,0,"FAT1",1,130,"错义",12220,"0.50=62/125",null,2195,"4q35","NM_005245.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v146",132,132,1,{"$nulls":3},"A有","12308A","FAT4","chr4:126329789","c.5760T>C(E4)","p.1920,D>D","rs958415",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"Van Maldergem综合征2型","AR",615546,5,1,13,2,"FAT4",1,130,"同义",13203,"1.00=220/221",null,79633,"4q28.1","NM_024582.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29311",2,2,1,{"$nulls":3},"A有","12308A","FBN1","chr15:48702873","m.9325G>A(E66)","非编码区","rs1042078",0.6,0.57,0.59,0.55,null,null,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位","AD",129600,5,1,2,7,"FBN1",1,200,"非编码区",14200,"1.00=2/2",null,2200,"15q21.1","NM_000138.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12482",12,5,0.42,{"$nulls":3},"A有","12308A","FBN2","chr5:127595028","m.9297G>A(E65)","非编码区","rs3805618",0.005,0.041,0.043,0.039,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"早期发病的黄斑变性","AD",616118,3,1,5,2,"FBN2",1,220,"非编码区",14100,"0.50=8/16",null,2201,"5q23-q31","NM_001999.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17612",140,64,0.46,{"$nulls":3},"A有","12308A","FBXL5","chr4:15640168","c.546C>T(E4)","p.182,K>K","rs3182730",0.096,0.019,0.024,0.015,0.015,0.03,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FBXL5",1,200,"同义",13203,"0.43=103/239",null,26234,"4p15.32","NM_001193534.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3624",104,54,0.52,{"$nulls":3},"A有","12308A","FBXO39","chr17:6690161","c.1086C>T(E3)","p.362,I>I","rs17853331",0.31,0.57,0.58,0.55,0.6,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FBXO39",1,93,"同义",13203,"0.47=78/165",null,162517,"17p13.1","NM_153230.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8776",101,47,0.47,{"$nulls":3},"A有","12308A","FCGBP","chr19:40354067","m.16286T>C(E36)","非编码区","rs2405",0.24,0.29,0.28,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"FCGBP",0.98,60,"非编码区",14200,"0.44=72/165",null,8857,"19q13.1","NM_003890.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26517",9,9,1,{"$nulls":3},"A有","12308A","FCGR3B","chr1:161594100","m.1029C>T(E6)","非编码区","rs61803007",null,0.39,0.32,0.46,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,10,0,"FCGR3B",1,100,"非编码区",14300,"1.00=12/12",null,2215,"1q23","NM_000570.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23465",41,16,0.39,{"$nulls":3},"A有","12308A","FCRLA","chr1:161681780","c.625A>G(E5)","p.209,S>G","rs2275603",0.48,0.6,0.6,0.61,0.55,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FCRLA",0.98,82,"错义",12220,"0.39=23/59",null,84824,"1q23.3","NM_001184866.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v196",34,17,0.5,{"$nulls":3},"A有","12308A","FER1L5","chr2:97359236","IVS30-7C>A","剪切位点","rs62156207",0.12,0.13,0.13,0.14,null,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FER1L5",1,85,"剪切位点",16201,"0.48=24/50",null,90342,"2q11.2","NM_001113382.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25736",21,11,0.52,{"$nulls":3},"A有","12308A","FGD2","chr6:36976637","c.96G>C(E2)","p.32,Q>H","rs831510",0.33,0.59,0.59,0.59,0.53,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FGD2",1,37,"错义",12220,"0.59=20/34",null,221472,"6p21.2","NM_173558.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13159",136,57,0.42,{"$nulls":3},"A有","12308A","FGFR2","chr10:123239112","c.2107G>A(E17)","p.703,L>L","rs1047057",0.41,0.38,0.35,0.42,0.43,0.39,"杂合","无关","有rs号，MAF>=5%",null,"Beare-Stevenson皮肤旋纹综合征","AD",123790,5,1,3,11,"FGFR2",1,170,"同义",13203,"0.42=111/263",null,2263,"10q26","NM_001144915.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13158",9,9,1,{"$nulls":3},"A有","12308A","FGFR2","chr10:123241496","m.2650T>C(E17)","非编码区","rs1649167",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"胃癌",null,613659,5,1,3,11,"FGFR2",1,170,"非编码区",14200,"1.00=10/10",null,2263,"10q26","NM_001144913.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9721",17,17,1,{"$nulls":3},"A有","12308A","FGFR4","chr5:176523597","IVS15-8A>G","剪切位点","rs31776",0.79,0.98,0.98,0.98,0.97,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FGFR4",1,28,"剪切位点",16202,"1.00=32/32",null,2264,"5q35.1-qter","NM_002011.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8411",90,90,1,{"$nulls":3},"A有","12308A","FIGLA","chr2:71012734","c.422C>G(E3)","p.141,S>T","rs7566476",0.76,0.94,0.93,0.95,0.92,0.91,"纯合","无关","有rs号，MAF>=5%",null,"卵巢早衰6型",null,612310,5,1,4,1,"FIGLA",0.65,130,"错义",12220,"1.00=150/150",null,344018,"2p13.3","NM_001004311.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10984",24,11,0.46,{"$nulls":3},"A有","12308A","FKBP15","chr9:115931692","c.3297A>G(E26)","p.1099,T>T","rs3810909",0.19,0.16,0.14,0.18,0.16,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FKBP15",1,160,"同义",13203,"0.47=15/32",null,23307,"9q32","NM_015258.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30967",185,44,0.24,{"$nulls":3},"A有","12308A","FLG","chr1:152278555","c.8807T>C(E3)","p.2936,D>G","rs80221306",{"$nulls":4},0.39,0.41,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"特应性皮炎(湿疹)2型",null,605803,3,2,52,2,"FLG",1,180,"错义",12320,"0.23=68/293",null,2312,"1q21.3","NM_002016.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30981",126,72,0.57,{"$nulls":3},"A有","12308A","FLG","chr1:152281690","c.5672C>T(E3)","p.1891,R>Q","rs12407748",0.29,0.59,0.62,0.57,0.54,0.56,"杂合","无关","有rs号，MAF>=5%",null,"寻常性鱼鳞病","AD",146700,5,1,52,2,"FLG",1,180,"错义",12220,"0.58=127/218",null,2312,"1q21.3","NM_002016.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31001",100,42,0.42,{"$nulls":3},"A有","12308A","FLG","chr1:152283862","c.3500G>C(E3)","p.1167,A>G","rs58001094",0.53,0.61,0.63,0.59,0.56,0.58,"杂合","无关","有rs号，MAF>=5%",null,"特应性皮炎(湿疹)2型",null,605803,5,2,52,2,"FLG",1,180,"错义",12220,"0.40=66/163",null,2312,"1q21.3","NM_002016.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31580",19,19,1,{"$nulls":3},"A有","12308A","FLNA","chrX:153581582","IVS37-10G>C","剪切位点","rs72616474",null,0.019,0.013,0.025,0.04,0.029,"纯合","可能相关","mRNA剪接可能会受影响",null,"先天性短肠综合征 ",null,615237,2,1,1,11,"FLNA",0.96,19,"剪切位点",16301,"1.00=34/34",null,2316,"Xq28","NM_001110556.1","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12308A(99)v29063",73,73,1,{"$nulls":3},"A有","12308A","FLNB","chr3:58118555","c.4504G>A(E27)","p.1502,V>M","rs12632456",0.61,0.96,0.98,0.95,0.9,0.97,"纯合","无关","有rs号，MAF>=5%",null,"骨发育不全3型","AD",108721,5,1,7,5,"FLNB",1,110,"错义",12210,"1.00=114/114",null,2317,"3p14.3","NM_001164317.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15828",12,5,0.42,{"$nulls":3},"A有","12308A","FLRT1","chr11:63885287","c.1548C>T(E2)","p.516,Y>Y","rs947939",0.069,0.062,0.067,0.058,0.068,0.072,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FLRT1",0.98,16,"同义",13203,"0.50=9/18",null,23769,"11q12-q13","NM_013280.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14358",100,100,1,{"$nulls":3},"A有","12308A","FLT3","chr13:28636084","c.288G>A(E3)","p.96,D>D","rs7338903",0.96,1,1,0.99,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"急性髓性白血病","AD",601626,5,1,4,2,"FLT3",0.99,250,"同义",13203,"1.00=159/159",null,2322,"13q12","NM_004119.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8956",59,59,1,{"$nulls":3},"A有","12308A","FN1","chr2:216272900","c.2449T>G(E17)","p.817,T>P","rs2577301",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"纤维连接蛋白沉积肾小球病","AD",601894,5,1,8,2,"FN1",0.99,150,"错义",12230,"1.00=88/88",null,2335,"2q34","NM_002026.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v510",2,2,1,{"$nulls":3},"A有","12308A","FNDC1","chr6:159655383","c.3839A>G(E11)","p.1280,Q>R","rs2501176",0.79,0.65,0.61,0.69,0.46,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"FNDC1",0.97,110,"错义",12220,"1.00=2/2",null,84624,"6q25","NM_032532.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8934",241,118,0.49,{"$nulls":3},"A有","12308A","FOCAD","chr9:20933030","c.3335A>C(E30)","p.1112,E>A","rs147046649",0.0088,0.012,0.0095,0.015,0.021,0.011,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"FOCAD",1,200,"错义",12120,"0.52=216/419",null,54914,"9p21","NM_017794.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13841",40,40,1,{"$nulls":3},"A有","12308A","FOXK1","chr7:4780514","c.606G>T(E2)","p.202,T>T","rs3087749",0.57,0.88,0.88,0.88,0.84,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FOXK1",0.85,22,"同义",13203,"1.00=66/66",null,221937,"7p22.1","NM_001037165.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15483",80,80,1,{"$nulls":3},"A有","12308A","FREM1","chr9:14775853","c.399A>G(E2)","p.133,D>D","rs1032474",0.85,0.86,0.86,0.85,0.86,0.87,"纯合","无关","有rs号，MAF>=5%",null,"三角头畸形2型","AD",614485,5,1,5,3,"FREM1",1,170,"同义",13203,"1.00=141/141",null,158326,"9p22.3","NM_001177704.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6453",58,34,0.59,{"$nulls":3},"A有","12308A","FREM3","chr4:144617397","c.4432A>T(E1)","p.1478,Y>N","rs6840796",0.1,0.18,0.19,0.17,0.18,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FREM3",0.97,110,"错义",12220,"0.63=57/90",null,166752,"4q31.21","NM_001168235.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21970",20,11,0.55,{"$nulls":3},"A有","12308A","FRG2C","chr3:75715423","m.1124A>G(E4)","非编码区","rs78262248",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,20,0,"FRG2C",1,940,"非编码区",14300,"0.66=19/29",null,100288801,"3p12.3","NM_001124759.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24357",84,35,0.42,{"$nulls":3},"A有","12308A","FRMD5","chr15:44198049","c.528A>G(E6)","p.176,A>A","rs2306674",0.22,0.31,0.3,0.33,0.34,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FRMD5",0.94,150,"同义",13203,"0.40=58/146",null,84978,"15q15.3","NM_032892.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18897",60,60,1,{"$nulls":3},"A有","12308A","FSIP2","chr2:186670979","c.17213T>C(E17)","p.5738,I>T","rs4666689",0.87,0.86,0.85,0.87,0.78,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"FSIP2",0.3,40,"错义",12220,"1.00=88/88",null,401024,"2q32.1","NM_173651.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29472",77,77,1,{"$nulls":3},"A有","12308A","FUT10","chr8:33246685","c.1008G>A(E4)","p.336,Y>Y","rs16880852",0.3,0.5,0.56,0.44,0.48,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FUT10",1,130,"同义",13203,"1.00=127/127",null,84750,"8p12","NM_032664.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24728",7,7,1,{"$nulls":3},"A有","12308A","FXN","chr9:71687924","m.1099C>T(E5)","非编码区","rs10890",0.56,0.64,0.67,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Friedreich共济失调1型","AR",229300,5,1,1,1,"FXN",0.76,210,"非编码区",14200,"1.00=10/10",null,2395,"9q21.11","NM_000144.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24828",39,14,0.36,{"$nulls":3},"A有","12308A","GAA","chr17:78079544","IVS2-4C>G","剪切位点","rs3816256",0.6,0.58,0.56,0.6,0.54,0.53,"杂合","无关","有rs号，MAF>=5%",null,"庞贝氏症(Pompe)","AR",232300,5,3,8,1,"GAA",0.99,19,"剪切位点",16202,"0.43=26/61",null,2548,"17q25.2-q25.3","NM_000152.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22834",82,82,1,{"$nulls":3},"A有","12308A","GABRR1","chr6:89907873","c.387G>A(E4)","p.129,D>D","rs422751",0.79,0.94,0.93,0.94,0.95,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GABRR1",1,170,"同义",13203,"0.99=137/138",null,2569,"6q15","NM_001256703.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19522",9,9,1,{"$nulls":3},"A有","12308A","GAK","chr4:860146","IVS22+6A>G","剪切位点","rs2306248",0.65,0.62,0.66,0.59,null,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GAK",0.95,50,"剪切位点",16202,"1.00=14/14",null,2580,"4p16","NM_005255.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11357",116,46,0.4,{"$nulls":3},"A有","12308A","GALNT8","chr12:4873163","c.1543G>T(E9)","p.515,V>F","rs1468556",0.33,0.42,0.42,0.42,0.42,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"GALNT8",1,140,"错义",12210,"0.46=97/213",null,26290,"12p13.3","NM_017417.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19265",7,4,0.57,{"$nulls":3},"A有","12308A","GATA2","chr3:128204951","c.490C>T(E4)","p.164,A>T","rs2335052",0.23,0.38,0.37,0.4,0.38,0.38,"杂合","无关","有rs号，MAF>=5%","16934006;19369658;19706030;19864173","原发性淋巴水肿脊髓发育不良","AD",614038,5,1,1,4,"GATA2",1,20,"错义",12220,"0.62=8/13",null,2624,"3q21.3","NM_001145661.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14653",4,4,1,{"$nulls":3},"A有","12308A","GBAS","chr7:56067016","m.1028G>T(E8)","非编码区","rs4689",0.66,0.73,0.73,0.74,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GBAS",0.89,220,"非编码区",14200,"1.00=5/5",null,2631,"7p12","NM_001202469.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31089",4,4,1,{"$nulls":3},"A有","12308A","GCAT","chr22:38212762","m.1360A>G(E9)","非编码区","rs13911",0.75,0.9,0.89,0.91,null,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GCAT",1,28,"非编码区",14200,"1.00=6/6",null,23464,"22q13.1","NM_014291.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14772",9,9,1,{"$nulls":3},"A有","12308A","GDF5","chr20:34022387","c.826A>C(E2)","p.276,S>A","rs224331",0.38,0.25,0.27,0.23,0.23,0.29,"纯合","无关","有rs号，MAF>=5%",null,"短指症A2型","AD",112600,5,1,2,9,"GDF5",1,23,"错义",12220,"1.00=12/12",null,8200,"20q11.2","NM_000557.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18144",110,60,0.55,{"$nulls":3},"A有","12308A","GDPD4","chr11:76979550","c.659T>C(E9)","p.220,K>R","rs2729772",0.21,0.26,0.27,0.26,0.23,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GDPD4",1,200,"错义",12210,"0.54=111/205",null,220032,"11q13.5","NM_182833.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19757",130,130,1,{"$nulls":3},"A有","12308A","GEMIN5","chr5:154300940","c.1422A>C(E10)","p.474,T>T","rs348739",0.79,0.9,0.9,0.9,0.88,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GEMIN5",1,190,"同义",13203,"1.00=220/220",null,25929,"5q33.2","NM_001252156.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8437",133,133,1,{"$nulls":3},"A有","12308A","GHR","chr5:42700044","c.558A>G(E6)","p.186,G>G","rs6179",0.64,0.83,0.8,0.85,0.85,0.86,"纯合","无关","有rs号，MAF>=5%","20445798;24664892","家族性高胆固醇血症","AD",143890,5,1,2,3,"GHR",0.99,180,"同义",13203,"1.00=227/227",null,2690,"5p13-p12","NM_000163.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v844",15,15,1,{"$nulls":3},"A有","12308A","GIPR","chr19:46185217","m.1524C>A(E14)","非编码区","rs12709891",0.26,0.4,0.37,0.43,null,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GIPR",0.93,42,"非编码区",14200,"1.00=21/21",null,2696,"19q13.3","NM_000164.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14557",69,67,0.97,{"$nulls":3},"A有","12308A","GJB2","chr13:20763380","c.341T>C(E2)","p.114,E>G","rs2274083",0.031,0.23,0.2,0.25,0.26,0.19,"纯合","未知","蛋白结构预测结果为容忍或无害","19719946;10983956;11494963;15790391","常染色体隐性遗传耳聋1A型","AR",220290,3,1,2,7,"GJB2",1,80,"错义",12120,"0.98=101/103",null,2706,"13q11-q12","NM_004004.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27338",5,5,1,{"$nulls":3},"A有","12308A","GLB1","chr3:33138544","c.34A>G(E1)","p.12,L>L","rs7614776",0.93,1,1,1,0.82,1,"纯合","无关","有rs号，MAF>=5%",null,"GM1神经节苷脂贮积病2型","AR",230600,5,1,3,4,"GLB1",1,130,"同义",13203,"1.00=14/14",null,2720,"3p21.33","NM_000404.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16694",3,3,1,{"$nulls":3},"A有","12308A","GLIS2","chr16:4386814","c.864T>C(E6)","p.288,Y>Y","rs669561",0.99,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"肾消耗病7型",null,611498,5,1,1,1,"GLIS2",0.83,12,"同义",13203,"1.00=4/4",null,84662,"16p13.3","NM_032575.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20336",23,22,0.96,{"$nulls":3},"A有","12308A","GLRX2","chr1:193074651","c.118T>A(E1)","p.40,R>W","rs10921310",0.68,0.39,0.4,0.38,0.37,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GLRX2",1,200,"错义",12220,"0.93=43/46",null,51022,"1q31.2","NM_016066.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v428",105,104,0.99,{"$nulls":3},"A有","12308A","GML","chr8:143922620","c.160C>T(E3)","p.54,R>C","rs3764795",0.21,0.48,0.47,0.5,0.43,0.49,"纯合","无关","有rs号，MAF>=5%",18773191,{"$nulls":3},5,null,2,0,"GML",1,160,"错义",12210,"0.99=190/192",null,2765,"8q24.3","NM_002066.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28979",40,40,1,{"$nulls":3},"A有","12308A","GNG4","chr1:235715523","c.114A>G(E4)","p.38,A>A","rs14326",0.63,0.84,0.85,0.83,0.85,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GNG4",1,100,"同义",13203,"1.00=64/64",null,2786,"1q42.3","NM_001098721.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30325",130,130,1,{"$nulls":3},"A有","12308A","GNPTAB","chr12:102158763","c.1932T>C(E13)","p.644,T>T","rs10778148",0.65,0.92,0.92,0.91,0.88,0.9,"纯合","无关","有rs号，MAF>=5%",null,"粘脂贮积症IIα/β型/I细胞病","AR",252500,5,1,2,2,"GNPTAB",1,210,"同义",13203,"1.00=222/222",null,79158,"12q23.2","NM_024312.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13137",55,26,0.47,{"$nulls":3},"A有","12308A","GOLGA8A","chr15:34673722","c.1702C>T(E16)","p.568,V>I","rs347877",{"$nulls":4},0.61,0.59,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"GOLGA8A",1,140,"错义",12320,"0.45=36/80",null,23015,"15q11.2","NM_181077.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26972",36,36,1,{"$nulls":3},"A有","12308A","GORASP2","chr2:171822466","c.981C>T(E10)","p.327,S>S","rs4668356",null,1,1,1,0.96,1,"纯合","未知","预测范围之外的同义突变",19734545,{"$nulls":3},4,null,1,0,"GORASP2",0.95,210,"同义",13303,"1.00=47/47",null,26003,"2q31.1","NM_001201428.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16742",8,3,0.38,{"$nulls":3},"A有","12308A","GPATCH2","chr1:217804325","m.85G>A(E1)","非编码区","rs944730",0.48,0.17,0.15,0.18,0.15,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPATCH2",1,180,"非编码区",14200,"0.31=4/13",null,55105,"1q41","NM_018040.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v763",29,27,0.93,{"$nulls":3},"A有","12308A","GPHB5","chr14:63784407-63784408","c.157(E2)至c.156(E2):插入G","插入移码","rs397688157",1,1,1,1,0.17,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,1,0,"GPHB5",1,86,"插入移码",2120,"0.94=33/35",null,122876,"14q23.2","NM_145171.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24441",7,7,1,{"$nulls":3},"A有","12308A","GPR114","chr16:57601792","c.846C>T(E9)","p.282,R>R","rs9937918",0.45,0.71,0.71,0.71,0.62,0.7,"纯合","无关","有rs号，MAF>=5%",20600896,{"$nulls":3},5,null,3,0,"GPR114",1,50,"同义",13203,"1.00=10/10",null,221188,"16q21","NM_153837.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30029",82,46,0.56,{"$nulls":3},"A有","12308A","GPR137C","chr14:53098902","c.742G>A(E4)","p.248,V>I","rs762063",0.41,0.44,0.41,0.47,0.46,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GPR137C",0.85,130,"错义",12220,"0.56=70/126",null,283554,"14q22.1","NM_001099652.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24151",76,76,1,{"$nulls":3},"A有","12308A","GPR143","chrX:9711595","IVS6+10G>C","非编码区","rs3788938",null,0.27,0.27,0.28,null,0.23,"纯合","未知","内含子突变可能影响调控",null,"眼白化病",null,300500,4,1,1,2,"GPR143",0.79,77,"非编码区",16303,"1.00=132/132",null,4935,"Xp22.3","NM_000273.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24229",15,8,0.53,{"$nulls":3},"A有","12308A","GPR37L1","chr1:202092580","c.489T>C(E1)","p.163,S>S","rs7516762",0.83,0.85,0.84,0.85,0.82,0.83,"杂合","无关","有rs号，MAF>=5%",20360844,{"$nulls":3},5,null,4,0,"GPR37L1",1,19,"同义",13203,"0.65=15/23",null,9283,"1q32.1","NM_004767.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v53",151,151,1,{"$nulls":3},"A有","12308A","GPR98","chr5:90052372","c.11682C>T(E56)","p.3894,P>P","rs2438349",0.54,0.5,0.5,0.5,0.49,0.47,"纯合","无关","有rs号，MAF>=5%",null,"家族性热性惊厥4型","AD",604352,5,1,17,2,"GPR98",1,200,"同义",13203,"1.00=257/258",null,84059,"5q13","NM_032119.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10452",30,12,0.4,{"$nulls":3},"A有","12308A","GPRC5D","chr12:13103266","c.53G>T(E1)","p.18,A>D","rs3741822",0.066,0.14,0.14,0.14,0.1,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GPRC5D",1,95,"错义",12220,"0.43=20/46",null,55507,"12p13.3","NM_018654.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22177",4,3,0.75,{"$nulls":3},"A有","12308A","GRB10","chr7:50660438","m.1889T>C(E15)","非编码区","rs6967874",0.99,1,1,1,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GRB10",1,130,"非编码区",14200,"0.75=3/4",null,2887,"7p12.2","NM_001001549.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14274",6,3,0.5,{"$nulls":3},"A有","12308A","GRID2IP","chr7:6590670","c.398C>T(E1)","p.133,R>H","rs9690195",0.31,0.25,0.28,0.23,0.2,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GRID2IP",0.78,24,"错义",12210,"0.43=3/7",null,392862,"7p22.1","NM_001145118.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21279",9,4,0.44,{"$nulls":3},"A有","12308A","GRIN2B","chr12:13717508","c.2664G>A(E13)","p.888,T>T","rs1806201",0.3,0.53,0.55,0.51,0.44,0.52,"杂合","无关","有rs号，MAF>=5%","15812607;16911840;18303265;20882066;21749895;21827795;22484476;22850629;23408766;23644918;24114429;24292895","婴儿早期癫痫性脑病27型","AD",616139,5,1,4,2,"GRIN2B",1,110,"同义",13203,"0.31=4/13",null,2904,"12p12","NM_000834.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v316",30,13,0.43,{"$nulls":3},"A有","12308A","GRK5","chr10:121196335","c.911G>A(E9)","p.304,R>H","rs2230349",0.13,0.3,0.27,0.33,0.21,0.26,"杂合","无关","有rs号，MAF>=5%",18425130,{"$nulls":3},5,null,1,0,"GRK5",1,110,"错义",12210,"0.46=22/48",null,2869,"10q26.11","NM_005308.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6840",57,57,1,{"$nulls":3},"A有","12308A","GSTM3","chr1:110279701","c.670C>T(E9)","p.224,V>I","rs7483",0.36,0.75,0.74,0.76,0.69,0.74,"纯合","无关","有rs号，MAF>=5%","16112301;17601350;17904251;18423940;19151192;19223546;19696791;21799460;23036584",{"$nulls":3},5,null,2,0,"GSTM3",1,170,"错义",12220,"1.00=85/85",null,2947,"1p13.3","NM_000849.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19224",31,31,1,{"$nulls":3},"A有","12308A","GSTZ1","chr14:77794283","c.80T>C(E6)","p.27,M>T","rs1046428",0.85,0.96,0.97,0.96,0.94,0.97,"纯合","无关","有rs号，MAF>=5%","17601350;19859803;20675267",{"$nulls":3},5,null,2,0,"GSTZ1",1,63,"错义",12220,"1.00=46/46",null,2954,"14q24.3","NM_001513.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8653",119,119,1,{"$nulls":3},"A有","12308A","GUCY2C","chr12:14829893","c.843A>C(E7)","p.281,F>L","rs1420635",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性腹泻6型/先天性早发型慢性腹泻6型","AD",614616,5,1,2,2,"GUCY2C",1,240,"错义",12210,"1.00=242/243",null,2984,"12p12","NM_004963.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1397",86,85,0.99,{"$nulls":3},"A有","12308A","GYPA","chr4:145041741","c.38T>G(E2)","p.13,E>A","rs4449373",0.88,0.98,0.98,0.97,0.92,0.87,"纯合","无关","有rs号，MAF>=5%",null,"疟疾,易感",null,611162,5,1,2,1,"GYPA",1,390,"错义",12220,"0.99=135/137",null,2993,"4q31.21","NM_002099.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28933",13,3,0.23,{"$nulls":3},"A有","12308A","H3F3C","chr12:31944475","m.701C>T(E1)","非编码区","rs11051595",0.11,0.11,0.11,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"H3F3C",1,110,"非编码区",14200,"0.22=4/18",null,440093,"12p11.21","NM_001013699.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12733",84,44,0.52,{"$nulls":3},"A有","12308A","HAUS6","chr9:19058743","c.1917G>C(E16)","p.639,H>Q","rs10511670",0.077,0.12,0.086,0.15,0.089,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"HAUS6",1,230,"错义",12210,"0.49=59/120",null,54801,"9p22.1","NM_001270890.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2843",29,12,0.41,{"$nulls":3},"A有","12308A","HBB","chr11:5246699","m.623A>T(E3)","非编码区","rs528009939",0.0006,0.0048,0.0095,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"镰状细胞性贫血",null,603903,3,2,1,6,"HBB",1,150,"非编码区",14100,"0.42=13/31",null,3043,"11p15.5","NM_000518.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31740",80,36,0.45,{"$nulls":3},"A有","12308A","HCLS1","chr3:121354583","c.690G>A(E9)","p.230,A>A","rs3772126",0.22,0.51,0.55,0.47,0.42,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"HCLS1",1,140,"剪切位点",13202,"0.48=70/146",null,3059,"3q13","NM_005335.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21906",66,66,1,{"$nulls":3},"A有","12308A","HEATR1","chr1:236719135","c.5619T>C(E39)","p.1873,E>E","rs1885532",0.87,0.96,0.96,0.96,0.95,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,26,0,"HEATR1",1,230,"同义",13203,"0.99=109/110",null,55127,"1q43","NM_018072.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27439",13,5,0.38,{"$nulls":3},"A有","12308A","HEATR2","chr7:810219","c.1895T>C(E9)","p.632,V>A","rs4720951",0.39,0.37,0.4,0.35,0.28,0.34,"杂合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍18型","AR",614874,5,3,3,1,"HEATR2",0.83,42,"错义",12210,"0.32=7/22",null,54919,"7p22.3","NM_017802.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3396",107,107,1,{"$nulls":3},"A有","12308A","HEATR8","chr1:55119144","c.545A>G(E3)","p.182,H>R","rs11206407",0.31,0.54,0.51,0.57,0.51,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"HEATR8",1,73,"错义",12220,"1.00=182/182",null,374977,"1p32.3","NM_001039464.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3203",190,93,0.49,{"$nulls":3},"A有","12308A","HELZ","chr17:65110436","IVS28+4A>G","剪切位点","rs2302158",0.19,0.21,0.22,0.21,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HELZ",1,190,"剪切位点",16202,"0.47=173/370",null,9931,"17q24.2","NM_014877.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25819",114,54,0.47,{"$nulls":3},"A有","12308A","HERC1","chr15:63966572","c.7815C>T(E38)","p.2605,L>L","rs145406028",0.013,0.029,0.029,0.029,0.033,0.02,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"HERC1",1,190,"同义",13103,"0.47=87/184",null,8925,"15q22","NM_003922.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8306",67,19,0.28,{"$nulls":3},"A有","12308A","HERC2","chr15:28467246","c.5580T>C(E36)","p.1860,G>G","rs376640270",0.33,0.19,0.23,0.15,0.22,0.077,"杂合","无关","有rs号，MAF>=5%",null,"皮肤/头发/眼睛色素沉着1型","AR",227220,5,3,8,2,"HERC2",0.98,150,"同义",13203,"0.21=22/107",null,8924,"15q13","NM_004667.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14961",15,15,1,{"$nulls":3},"A有","12308A","HFE","chr6:26091336","IVS2+4T>C","剪切位点","rs2071303",0.43,0.67,0.69,0.66,0.63,0.68,"纯合","无关","有rs号，MAF>=5%",null,"血清转铁蛋白水平",null,614193,5,1,1,6,"HFE",1,95,"剪切位点",16202,"1.00=19/19",null,3077,"6p21.3","NM_000410.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24626",5,5,1,{"$nulls":3},"A有","12308A","HINT3","chr6:126278230","c.107G>C(E1)","p.36,G>A","rs2295005",0.69,0.95,0.95,0.95,0.79,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"HINT3",0.92,220,"错义",12220,"1.00=7/7",null,135114,"6q22.32","NM_138571.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4162",34,34,1,{"$nulls":3},"A有","12308A","HIST1H2AA","chr6:25726329-25726330","m.462(E1)至m.461(E1):插入TT","非编码区","rs112943240",0.35,0.74,0.76,0.72,0.14,0.7,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"HIST1H2AA",1,98,"非编码区",2420,"1.00=35/35",null,221613,"6p22.2","NM_170745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16382",11,4,0.36,{"$nulls":3},"A有","12308A","HIST3H3","chr1:228612892","c.135G>A(E1)","p.45,G>G","rs56336130",0.043,0.017,0.019,0.015,0.029,0.02,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"HIST3H3",1,33,"同义",13103,"0.29=4/14",null,8290,"1q42","NM_003493.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5171",9,9,1,{"$nulls":3},"A有","12308A","HLA-A","chr6:29912280","c.899T>C(E5)","p.300,L>P","rs1136903",0.69,0.64,0.64,0.64,0.61,0.7,"纯合","无关","有rs号，MAF>=5%",null,"严重皮肤副反应易感",null,608579,5,1,17,1,"HLA-A",0.83,18,"错义",12220,"1.00=10/10",null,3105,"6p21.3","NM_001242758.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23215",42,42,1,{"$nulls":3},"A有","12308A","HLA-B","chr6:31322303","c.1046C>G(E7)","p.349,C>S","rs2308655",null,0.59,0.55,0.62,0.54,0.63,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"严重皮肤副反应易感",null,608579,3,1,12,2,"HLA-B",0.89,33,"错义",12320,"1.00=58/58",null,3106,"6p21.3","NM_005514.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3513",11,6,0.55,{"$nulls":3},"A有","12308A","HLA-C","chr6:31239378","c.341T>G(E2)","p.114,D>A","rs1131123",null,0.66,0.65,0.67,0.58,0.7,"杂合","未知","蛋白结构预测结果为容忍或无害",16642438,"银屑病易感1型",null,177900,3,2,11,2,"HLA-C",0.93,28,"错义",12320,"0.50=8/16",null,3107,"6p21.3","NM_002117.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28493",23,23,1,{"$nulls":3},"A有","12308A","HLA-DQB1","chr6:32629239-32629247","IVS3-5至IVS3-13:缺失AGAGCAGAA插入GAAGCAGAGC","非编码区","rs201984749,rs200420529",{"$nulls":4},0,null,"纯合","无关","内含子突变",null,"多发性硬化症（易感）",null,126200,5,1,16,3,"HLA-DQB1",0.97,60,"非编码区",2500,"1.00=26/26",null,3119,"6p21.3","NM_001243961.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28489",5,3,0.6,{"$nulls":3},"A有","12308A","HLA-DQB1","chr6:32632832","c.122A>T(E2)","p.41,F>Y","rs9274407",0.76,0.71,0.71,0.71,0.59,0.74,"杂合","无关","有rs号，MAF>=5%","20018961;21570397","Creutzfeldt-Jakob病","AD",123400,5,1,16,3,"HLA-DQB1",0.97,60,"错义",12220,"0.50=4/8",null,3119,"6p21.3","NM_001243961.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7198",25,11,0.44,{"$nulls":3},"A有","12308A","HLA-DRB1","chr6:32549368","c.618G>A(E3)","p.206,H>H","rs550518162",{"$nulls":4},0.097,0.099,"杂合","未知","预测范围之外的同义突变",null,"风湿性关节炎（易感）",null,180300,4,2,17,3,"HLA-DRB1",1,100,"同义",13303,"0.44=12/27",null,3123,"6p21.3","NM_002124.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24689",78,21,0.27,{"$nulls":3},"A有","12308A","HLF","chr17:53342796-53342797","m.476(E1)至m.477(E1):插入TTTC","非编码区","rs10635027",0.76,0.73,0.74,0.73,0.31,0.62,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"HLF",1,81,"非编码区",2420,"0.27=24/89",null,3131,"17q22","NM_002126.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18241",2,2,1,{"$nulls":3},"A有","12308A","HMHA1","chr19:1081617","c.2307A>G(E18)","p.769,Q>Q","rs10404947",0.76,0.72,0.73,0.71,0.53,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HMHA1",0.84,8,"同义",13203,"1.00=3/3",null,23526,"19p13.3","NM_001258328.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26906",3,2,0.67,{"$nulls":3},"A有","12308A","HNF1B","chr17:36047101","m.2169T>A(E9)","非编码区","rs2689",0.36,0.43,0.41,0.46,null,null,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,3,3,"HNF1B",0.99,82,"非编码区",14200,"0.67=2/3",null,6928,"17q12","NM_000458.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30584",7,7,1,{"$nulls":3},"A有","12308A","HOXA4","chr7:27168719","m.1135C>T(E2)","非编码区","rs4722662",0.96,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HOXA4",0.69,23,"非编码区",14200,"1.00=7/7",null,3201,"7p15.2","NM_002141.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17153",68,25,0.37,{"$nulls":3},"A有","12308A","HPS1","chr10:100195130","c.297G>A(E5)","p.99,T>T","rs11539873",0.064,0.17,0.19,0.15,0.14,0.14,"杂合","无关","有rs号，MAF>=5%",null,"赫曼斯基-普德拉克综合征1型","AR",203300,5,3,6,1,"HPS1",1,48,"同义",13203,"0.33=38/114",null,3257,"10q23.1-q23.3","NM_000195.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1482",26,13,0.5,{"$nulls":3},"A有","12308A","HRAS","chr11:534242","c.81A>G(E2)","p.27,H>H","rs12628",0.3,0.19,0.18,0.2,0.18,0.19,"杂合","无关","有rs号，MAF>=5%","16835863;22618666","表皮痣","AD",162900,5,1,1,5,"HRAS",1,35,"同义",13203,"0.48=22/46",null,3265,"11p15.5","NM_001130442.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10027",116,57,0.49,{"$nulls":3},"A有","12308A","HRNR","chr1:152190945","c.3160C>T(E3)","p.1054,E>K","rs77376932",0.3,0.6,0.61,0.59,0.48,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,35,0,"HRNR",1,250,"错义",12220,"0.51=108/212",null,388697,"1q21.3","NM_001009931.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v518",113,112,0.99,{"$nulls":3},"A有","12308A","HS2ST1","chr1:87563668","m.1121G>A(E5)","非编码区","rs1199677",0.97,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"HS2ST1",1,270,"非编码区",14200,"0.99=182/183",null,9653,"1p22.3","NM_001134492.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22058",3,3,1,{"$nulls":3},"A有","12308A","HSD3B7","chr16:30996871","m.191C>G(E2)","非编码区","rs12443808",0.4,0.7,0.68,0.73,0.8,0.89,"纯合","无关","有rs号，MAF>=5%",null,"先天性胆汁合成障碍1型","AR",607765,5,1,4,1,"HSD3B7",1,20,"非编码区",14200,"1.00=4/4",null,80270,"16p11.2","NM_001142777.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8834",97,53,0.55,{"$nulls":3},"A有","12308A","HSPA8","chr11:122928634","IVS8-7A>T","剪切位点","rs3763897",0.047,0.19,0.2,0.18,null,0.17,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,2,0,"HSPA8",1,130,"剪切位点",16102,"0.49=85/175",null,3312,"11q24.1","NM_006597.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27255",2,2,1,{"$nulls":3},"A有","12308A","HTR2A","chr13:47470352","m.421C>T(E2)","非编码区","rs6310",0.91,1,1,1,0.97,null,"纯合","无关","有rs号，MAF>=5%",null,"精神分裂症9型",null,604906,5,1,3,5,"HTR2A",1,110,"非编码区",14200,"1.00=3/3",null,3356,"13q14-q21","NM_000621.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27257",86,86,1,{"$nulls":3},"A有","12308A","HTR2A","chr13:47470824","c.145C>T(E1)","p.49,D>N","rs6312",0.92,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",18330705,"精神分裂症9型",null,604906,5,1,3,5,"HTR2A",1,110,"错义",12220,"1.00=158/158",null,3356,"13q14-q21","NM_001165947.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4876",35,35,1,{"$nulls":3},"A有","12308A","HUWE1","chrX:53563589","c.12177A>G(E79)","p.4059,G>G","rs426298",null,1,1,1,0.98,1,"纯合","未知","预测范围之外的同义突变",null,"X连锁智力低下,综合征Turner型",null,300706,4,1,1,1,"HUWE1",1,84,"同义",13303,"1.00=54/54",null,10075,"Xp11.22","NM_031407.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29328",189,90,0.48,{"$nulls":3},"A有","12308A","HYDIN","chr16:71025245","c.3840C>T(E25)","p.1280,T>T","rs1774516",{"$nulls":4},0.48,null,"杂合","未知","预测范围之外的同义突变",null,"原发性纤毛运动障碍5型","AR",608647,4,3,61,1,"HYDIN",1,320,"同义",13303,"0.49=153/315",null,54768,"16q22.2","NM_001270974.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9860",132,65,0.49,{"$nulls":3},"A有","12308A","IBSP","chr4:88732874","c.766A>G(E7)","p.256,T>A","rs17013182",0.053,0.16,0.15,0.17,0.14,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"IBSP",1,180,"错义",12220,"0.47=105/224",null,3381,"4q21.1","NM_004967.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11034",35,30,0.86,{"$nulls":3},"A有","12308A","IDH3G","chrX:153056311-153056312","IVS1-5至IVS1-6:插入AG","非编码区","rs34761948",null,0.2,0.22,0.18,0.051,0.21,"纯合","无关","内含子突变",{"$nulls":4},5,null,1,0,"IDH3G",0.93,24,"非编码区",2500,"0.86=30/35",null,3421,"Xq28","NM_004135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22518",135,133,0.99,{"$nulls":3},"A有","12308A","IFI44L","chr1:79093818","c.218A>G(E2)","p.73,H>R","rs273259",0.44,0.77,0.75,0.79,0.73,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"IFI44L",1,210,"错义",12220,"0.99=225/228",null,10964,"1p31.1","NM_006820.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12930",78,78,1,{"$nulls":3},"A有","12308A","IFIT2","chr10:91066769","c.1056C>A(E2)","p.352,D>E","rs1727",0.88,1,1,1,0.97,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"IFIT2",1,140,"错义",12220,"1.00=106/106",null,3433,"10q23.31","NM_001547.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7076",15,5,0.33,{"$nulls":3},"A有","12308A","IFNGR1","chr6:137519780","IVS6-4T>C","剪切位点","rs3799488",0.12,0.24,0.27,0.21,0.27,0.26,"杂合","无关","有rs号，MAF>=5%",null,"结核分枝杆菌易感",null,607948,5,2,3,5,"IFNGR1",1,180,"剪切位点",16202,"0.39=7/18",null,3459,"6q23.3","NM_000416.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25799",133,133,1,{"$nulls":3},"A有","12308A","IFT74","chr9:26978170","c.165A>G(E3)","p.55,I>M","rs10812505",0.17,0.64,0.64,0.64,0.59,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"IFT74",1,250,"错义",12220,"1.00=223/223",null,80173,"9p21.2","NM_001099222.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9574",48,47,0.98,{"$nulls":3},"A有","12308A","IGFN1","chr1:201166435","c.357T>C(E5)","p.119,T>T","rs11589317",0.87,0.86,0.84,0.88,0.84,0.84,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,33,0,"IGFN1",1,100,"同义",13203,"0.97=70/72",null,91156,"1q32.1","NM_001164586.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9563",19,10,0.53,{"$nulls":3},"A有","12308A","IGFN1","chr1:201190732","c.10059G>A(E19)","p.3353,V>V","rs3738269",0.22,0.25,0.24,0.26,0.25,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,33,0,"IGFN1",1,100,"同义",13203,"0.62=15/24",null,91156,"1q32.1","NM_001164586.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16128",16,9,0.56,{"$nulls":3},"A有","12308A","IGSF3","chr1:117122130","c.3218T>C(E10)","p.1073,Q>R","rs6703791",0.34,0.51,0.52,0.5,0.41,0.52,"杂合","无关","有rs号，MAF>=5%",null,"泪管缺陷","AR",149700,5,3,16,1,"IGSF3",1,70,"错义",12220,"0.50=14/28",null,3321,"1p13","NM_001007237.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16132",32,12,0.38,{"$nulls":3},"A有","12308A","IGSF3","chr1:117156600","c.619T>C(E4)","p.207,S>G","rs547741844",{"$nulls":4},0.38,0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"泪管缺陷","AR",149700,3,3,16,1,"IGSF3",1,70,"错义",12320,"0.32=15/47",null,3321,"1p13","NM_001007237.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17752",8,3,0.38,{"$nulls":3},"A有","12308A","IL10RB","chr21:34668747","m.1169A>G(E7)","非编码区","rs3171425",0.57,0.73,0.77,0.69,null,0.76,"杂合","无关","有rs号，MAF>=5%",null,"乙型肝炎病毒易感",null,610424,5,2,2,2,"IL10RB",1,180,"非编码区",14200,"0.40=4/10",null,3588,"21q22.11","NM_000628.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22371",8,4,0.5,{"$nulls":3},"A有","12308A","IL17REL","chr22:50435480","c.998A>G(E14)","p.333,L>P","rs5771069",0.61,0.57,0.53,0.61,0.51,0.6,"杂合","无关","有rs号，MAF>=5%","20228798;21297633",{"$nulls":3},5,null,1,0,"IL17REL",1,10,"错义",12220,"0.41=7/17",null,400935,"22q13.33","NM_001001694.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11041",31,31,1,{"$nulls":3},"A有","12308A","IL1RN","chr2:113890304","c.336T>C(E5)","p.112,S>S","rs315952",0.35,0.55,0.57,0.53,0.54,0.59,"纯合","无关","有rs号，MAF>=5%","16820586;17176440;18063673;19043479;19230157;19567509;19729864;19934104;20178882;20213597;20353565;20463618;20975573;21146623;21279638;21621860;21672595;23722873;24918527;25089931;25133031","遗传性弥漫性胃癌","AD",137215,5,1,2,3,"IL1RN",1,98,"同义",13203,"1.00=52/52",null,3557,"2q14.2","NM_000577.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21345",8,4,0.5,{"$nulls":3},"A有","12308A","IL34","chr16:70690989","c.364G>C(E5)","p.122,E>Q","rs8046424",0.72,0.7,0.69,0.72,0.6,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"IL34",1,47,"错义",12220,"0.43=6/14",null,146433,"16q22.1","NM_001172771.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11413",23,13,0.57,{"$nulls":3},"A有","12308A","IMPDH1","chr7:128034629","c.1575C>T(E15)","p.525,A>A","rs2228075",0.28,0.37,0.4,0.33,0.32,0.37,"杂合","无关","有rs号，MAF>=5%","20061166;20649757","Leber先天性黑蒙11型",null,613837,5,2,1,2,"IMPDH1",1,48,"同义",13203,"0.57=17/30",null,3614,"7q31.3-q32","NM_000883.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27312",324,324,1,{"$nulls":3},"A有","12308A","INADL","chr1:62380298","c.3532G>A(E26)","p.1178,G>S","rs1056513",0.45,0.61,0.62,0.59,0.63,0.57,"纯合","无关","有rs号，MAF>=5%",23251661,{"$nulls":3},5,null,9,0,"INADL",1,220,"错义",12220,"0.99=582/585",null,10207,"1p31.3","NM_176877.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27148",4,3,0.75,{"$nulls":3},"A有","12308A","INPP4A","chr2:99193496","c.2691C>T(E25)","p.897,S>S","rs2230388",0.26,0.3,0.33,0.27,0.2,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"INPP4A",1,120,"同义",13203,"0.75=3/4",null,3631,"2q11.2","NM_001134224.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23121",32,21,0.66,{"$nulls":3},"A有","12308A","INSR","chr19:7166388","c.1638G>A(E8)","p.546,D>D","rs2229429",0.26,0.055,0.062,0.049,0.068,0.066,"杂合","无关","有rs号，MAF>=5%",null,"矮妖精貌综合症/Donohue综合征","AR",246200,5,3,3,4,"INSR",0.98,95,"同义",13203,"0.68=34/50",null,3643,"19p13.3-p13.2","NM_000208.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30816",145,144,0.99,{"$nulls":3},"A有","12308A","IPO11","chr5:61785936","IVS14-6T>C","剪切位点","rs26644",0.57,0.36,0.35,0.37,null,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"IPO11",1,280,"剪切位点",16202,"1.00=248/249",null,51194,"5q12.1","NM_001134779.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11238",13,4,0.31,{"$nulls":3},"A有","12308A","IQSEC3","chr12:283890","c.3240G>A(E14)","p.1080,P>P","rs569557609",0.0004,0,0,0,null,0.00014,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"IQSEC3",0.79,34,"同义",13103,"0.29=5/17",null,440073,"12p13.33","NM_001170738.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22445",14,10,0.71,{"$nulls":3},"A有","12308A","IRGM","chr5:150227615","m.1043G>A(E2)","非编码区","rs9637870",0.26,0.47,0.51,0.43,0.41,null,"杂合","无关","有rs号，MAF>=5%",null,"炎性肠病19型/克罗恩病",null,612278,5,2,2,2,"IRGM",1,96,"非编码区",14200,"0.60=12/20",null,345611,"5q33.1","NM_001145805.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26767",61,61,1,{"$nulls":3},"A有","12308A","ISX","chr22:35463179","c.99T>C(E1)","p.33,I>I","rs361668",0.8,0.89,0.87,0.91,0.9,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ISX",1,78,"同义",13203,"1.00=93/93",null,91464,"22q12.3","NM_001008494.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23147",23,9,0.39,{"$nulls":3},"A有","12308A","ITGA11","chr15:68613787","c.2377A>G(E19)","p.793,L>L","rs3736493",0.25,0.16,0.19,0.14,0.14,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ITGA11",0.99,74,"同义",13203,"0.38=13/34",null,22801,"15q23","NM_001004439.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9260",198,90,0.45,{"$nulls":3},"A有","12308A","ITGB1","chr10:33217110","c.459G>A(E5)","p.153,Y>Y","rs2230394",0.2,0.35,0.34,0.36,0.33,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ITGB1",1,240,"同义",13203,"0.45=153/342",null,3688,"10p11.2","NM_002211.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30810",49,25,0.51,{"$nulls":3},"A有","12308A","ITIH1","chr3:52825528","IVS18-5T>C","剪切位点","rs1075653",0.4,0.41,0.37,0.45,null,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ITIH1",1,84,"剪切位点",16202,"0.56=43/77",null,3697,"3p21.1","NM_001166434.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4067",9,9,1,{"$nulls":3},"A有","12308A","ITIH5","chr10:7618501","c.1893A>G(E10)","p.631,D>D","rs2275068",0.53,0.8,0.8,0.8,0.66,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ITIH5",0.99,110,"同义",13203,"1.00=15/15",null,80760,"10p14","NM_001001851.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21377",119,117,0.98,{"$nulls":3},"A有","12308A","ITPR1","chr3:4817057","c.5967T>C(E44)","p.1989,N>N","rs6442905",0.96,0.98,0.97,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",20437544,"脊髓小脑性共济失调15型（包括原16型）（属于ADCA III型）","AD",606658,5,1,9,2,"ITPR1",1,170,"同义",13203,"0.99=222/225",null,3708,"3p26.1","NM_001099952.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23246",47,47,1,{"$nulls":3},"A有","12308A","JAK1","chr1:65321388","IVS10-7G>A","剪切位点","rs310229",0.4,0.28,0.28,0.28,0.33,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"JAK1",1,170,"剪切位点",16202,"1.00=69/69",null,3716,"1p32.3-p31.3","NM_002227.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5720",7,2,0.29,{"$nulls":3},"A有","12308A","JAZF1","chr7:28220228","m.210C>T(E1)","非编码区","rs10255700",0.27,0.32,0.32,0.32,null,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"JAZF1",1,95,"非编码区",14200,"0.25=2/8",null,221895,"7p15.2-p15.1","NM_175061.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17236",9,9,1,{"$nulls":3},"A有","12308A","JRK","chr8:143747271","c.207C>G(E2)","p.69,S>S","rs2978973",0.4,0.5,0.45,0.55,0.42,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"JRK",1,22,"同义",13203,"1.00=16/16",null,8629,"8q24.3","NM_001077527.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28255",29,29,1,{"$nulls":3},"A有","12308A","KATNA1","chr6:149916057","m.1585T>A(E8)","非编码区","rs9027",0.66,0.83,0.84,0.82,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KATNA1",1,260,"非编码区",14200,"1.00=34/34",null,11104,"6q25.1","NM_001204076.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9609",7,7,1,{"$nulls":3},"A有","12308A","KCNAB1","chr3:156009614","m.839A>G(E1)","非编码区","rs2290165",0.48,0.48,0.48,0.48,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KCNAB1",1,150,"非编码区",14200,"1.00=12/12",null,7881,"3q26.1","NM_172159.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v79",10,7,0.7,{"$nulls":3},"A有","12308A","KCNG1","chr20:49620783","c.1335G>T(E3)","p.445,I>I","rs1054268",0.64,0.64,0.66,0.62,0.57,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KCNG1",0.9,8.3,"同义",13203,"0.77=10/13",null,3755,"20q13","NM_002237.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3594",29,11,0.38,{"$nulls":3},"A有","12308A","KCNJ11","chr11:17408630","c.1009C>T(E1)","p.337,V>I","rs5215",0.73,0.61,0.6,0.62,0.57,0.64,"杂合","无关","有rs号，MAF>=5%","16733889;17463249;17786212;18372903;18426861;18533027;18591388;19002430;19096518;19526209;19931040;20017978;20018041;20018066;20043145;20144327;20550665;20802253;21573802;22377712;22569928;24442125;24604100;24845081","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,2,4,"KCNJ11",1,27,"错义",12220,"0.36=20/56",null,3767,"11p15.1","NM_000525.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v999",45,24,0.53,{"$nulls":3},"A有","12308A","KCNK10","chr14:88737193","m.63T>C(E1)","非编码区","rs1298237",0.75,0.94,0.93,0.94,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"KCNK10",1,110,"非编码区",14200,"0.56=38/68",null,54207,"14q31.3","NM_138318.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25442",86,42,0.49,{"$nulls":3},"A有","12308A","KCNMB3","chr3:178976821","m.859G>A(E1)","非编码区","rs11720935",0.55,0.88,0.87,0.9,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KCNMB3",1,140,"非编码区",14200,"0.49=63/128",null,27094,"3q26.3-q27","NM_171829.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5975",80,42,0.53,{"$nulls":3},"A有","12308A","KCTD20","chr6:36446975","c.512G>C(E4)","p.171,S>T","rs2239808",0.31,0.36,0.33,0.4,0.41,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KCTD20",1,160,"错义",12220,"0.52=69/133",null,222658,"6p21.31","NM_173562.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3421",82,82,1,{"$nulls":3},"A有","12308A","KDELR2","chr7:6505901","c.405T>C(E4)","p.135,L>L","rs2230263",0.81,0.58,0.62,0.54,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KDELR2",1,160,"同义",13203,"1.00=127/127",null,11014,"7p22.1","NM_006854.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25905",128,128,1,{"$nulls":3},"A有","12308A","KDM5B","chr1:202705455","c.3150G>C(E21)","p.1050,P>P","rs1141109",0.64,0.76,0.8,0.73,0.79,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KDM5B",1,190,"同义",13203,"1.00=196/196",null,10765,"1q32.1","NM_006618.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27614",33,33,1,{"$nulls":3},"A有","12308A","KHNYN","chr14:24910210","m.5958C>A(E8)","非编码区","rs712487",0.76,0.84,0.82,0.86,null,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KHNYN",1,50,"非编码区",14200,"1.00=50/50",null,23351,"14q12","NM_015299.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17373",84,42,0.5,{"$nulls":3},"A有","12308A","KIAA0753","chr17:6493198","c.2687T>C(E18)","p.896,Q>R","rs1443417",0.69,0.65,0.63,0.67,0.66,0.7,"杂合","无关","有rs号，MAF>=5%",19223858,{"$nulls":3},5,null,9,0,"KIAA0753",1,170,"错义",12220,"0.51=64/126",null,9851,"17p13.1","NM_014804.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13133",92,92,1,{"$nulls":3},"A有","12308A","KIAA1107","chr1:92647532","c.2978C>A(E8)","p.993,T>N","rs565156",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KIAA1107",1,140,"错义",12210,"1.00=144/144",null,23285,"1p22.1","NM_015237.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16511",117,117,1,{"$nulls":3},"A有","12308A","KIAA1324","chr1:109735298","c.1488T>C(E12)","p.496,G>G","rs658779",0.74,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"KIAA1324",1,110,"同义",13203,"1.00=204/204",null,57535,"1p13.3","NM_001267048.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2472",103,56,0.54,{"$nulls":3},"A有","12308A","KIAA1377","chr11:101832708","c.942A>T(E6)","p.314,T>T","rs3740930",0.1,0.099,0.1,0.092,0.14,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KIAA1377",1,200,"同义",13203,"0.53=81/154",null,57562,"11q22.1","NM_020802.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30518",49,49,1,{"$nulls":3},"A有","12308A","KIAA1467","chr12:13208552","c.105C>T(E2)","p.35,D>D","rs4763924",0.33,0.54,0.52,0.56,0.53,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KIAA1467",1,130,"同义",13203,"1.00=78/78",null,57613,"12p13.1","NM_020853.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27973",19,7,0.37,{"$nulls":3},"A有","12308A","KIAA1683","chr19:18376407","c.1943T>A(E3)","p.648,Y>F","rs8110972",0.54,0.51,0.52,0.5,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KIAA1683",0.94,29,"错义",12210,"0.41=12/29",null,80726,"19p13.1","NM_001145304.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11128",16,16,1,{"$nulls":3},"A有","12308A","KIAA1984","chr9:139700605","c.1024T>C(E10)","p.342,W>R","rs2811795",0.85,0.85,0.84,0.85,0.77,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KIAA1984",1,29,"错义",12220,"1.00=25/25",null,84960,"9q34.3","NM_001039374.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29182",99,51,0.52,{"$nulls":3},"A有","12308A","KIAA2026","chr9:5969249","c.982A>G(E3)","p.328,L>L","rs10739080",0.51,0.54,0.53,0.54,0.54,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KIAA2026",0.97,130,"同义",13203,"0.53=98/184",null,158358,"9p24.1","NM_001017969.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1673",89,89,1,{"$nulls":3},"A有","12308A","KIF1B","chr1:10355834","IVS17+10C>T","非编码区","rs3753037",0.26,0.33,0.37,0.29,null,0.3,"纯合","无关","有rs号，MAF>=5%",null,"噬铬细胞瘤","AD",171300,5,1,3,3,"KIF1B",1,180,"非编码区",16203,"1.00=141/141",null,23095,"1p36.2","NM_015074.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6964",13,13,1,{"$nulls":3},"A有","12308A","KIF24","chr9:34256347","c.3258C>T(E11)","p.1086,G>G","rs10814083",0.44,0.72,0.77,0.67,0.66,0.74,"纯合","无关","有rs号，MAF>=5%","19217189;20670673;24771767",{"$nulls":3},5,null,1,0,"KIF24",1,100,"同义",13203,"1.00=23/23",null,347240,"9p13.3","NM_194313.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14289",448,131,0.29,{"$nulls":3},"A有","12308A","KIR2DL3","chr19:55250979","c.61C>A(E2)","p.21,P>T","rs143258060",{"$nulls":5},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"KIR2DL3",1,600,"错义",12310,"0.29=269/914",null,3804,"19q13.4","NM_015868.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19421",174,174,1,{"$nulls":3},"A有","12308A","KIR3DL3","chr19:55237677","c.229C>T(E3)","p.77,R>W","rs202170060",0.2,0.68,0.67,0.69,0.52,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KIR3DL3",1,340,"错义",12220,"1.00=313/314",null,100133046,"-","NM_153443.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26020",11,11,1,{"$nulls":3},"A有","12308A","KLHDC7A","chr1:18807938","c.463C>A(E1)","p.155,P>T","rs2992754",0.27,0.62,0.6,0.65,0.55,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"KLHDC7A",0.96,15,"错义",12220,"1.00=14/14",null,127707,"1p36.13","NM_152375.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v124",8,5,0.62,{"$nulls":3},"A有","12308A","KLHL14","chr18:30349691","c.864C>T(E2)","p.288,P>P","rs17851892",0.33,0.39,0.44,0.34,0.35,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KLHL14",0.9,100,"同义",13203,"0.75=9/12",null,57565,"18q12.1","NM_020805.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5460",9,9,1,{"$nulls":3},"A有","12308A","KLHL4","chrX:86921760","m.2565T>C(E11)","非编码区","rs41312554",null,0.11,0.11,0.11,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"KLHL4",1,120,"非编码区",14300,"1.00=10/10",null,56062,"Xq21.3","NM_019117.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v922",43,43,1,{"$nulls":3},"A有","12308A","KLKB1","chr4:187179210","c.1761T>C(E15)","p.587,N>N","rs925453",0.66,0.84,0.85,0.83,0.85,0.86,"纯合","无关","有rs号，MAF>=5%",16613788,"前激肽释放酶缺乏症",null,612423,5,1,4,1,"KLKB1",1,210,"同义",13203,"1.00=74/74",null,3818,"4q35","NM_000892.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22666",13,13,1,{"$nulls":3},"A有","12308A","KLRC3","chr12:10572544","c.207T>C(E2)","p.69,E>E","rs143188402",{"$nulls":4},0.7,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,11,0,"KLRC3",0.95,320,"同义",13303,"1.00=13/13",null,3823,"12p13","NM_002261.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27102",19,8,0.42,{"$nulls":3},"A有","12308A","KPTN","chr19:47980153","c.906G>A(E10)","p.302,P>P","rs2293424",0.35,0.53,0.5,0.56,0.51,0.62,"杂合","无关","有rs号，MAF>=5%",null,"精神（智力）发育迟缓41型","AR",615637,5,3,2,1,"KPTN",0.98,54,"同义",13203,"0.47=14/30",null,11133,"19q13.32","NM_007059.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12796",158,158,1,{"$nulls":3},"A有","12308A","KRAS","chr12:25368462","c.483C>T(E5)","p.161,R>R","rs4362222",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"肺癌","AR",211980,5,1,4,9,"KRAS",1,350,"同义",13203,"1.00=272/272",null,3845,"12p12.1","NM_033360.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21746",5,2,0.4,{"$nulls":3},"A有","12308A","KRI1","chr19:10676429","c.150G>A(E2)","p.50,D>D","rs117638900",0.003,0.022,0.019,0.024,0.014,0.031,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"KRI1",1,62,"同义",13103,"0.40=2/5",null,65095,"19p13.2","NM_023008.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22166",11,11,1,{"$nulls":3},"A有","12308A","KRT14","chr17:39742894","c.193G>A(E1)","p.65,L>L","rs3826551",0.68,0.95,0.96,0.95,0.83,0.94,"纯合","无关","有rs号，MAF>=5%",null,"全身性单纯性大疱性表皮松解症","AD",131900,5,1,4,6,"KRT14",1,50,"同义",13203,"1.00=14/14",null,3861,"17q12-q21","NM_000526.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15859",28,9,0.32,{"$nulls":3},"A有","12308A","KRT32","chr17:39619094","c.1205T>C(E6)","p.402,N>S","rs2604955",0.62,0.69,0.71,0.67,0.6,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"KRT32",1,49,"错义",12220,"0.30=13/43",null,3882,"17q21.2","NM_002278.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8759",8,4,0.5,{"$nulls":3},"A有","12308A","KRT37","chr17:39580779","m.44G>A(E1)","非编码区","rs185993821",0.0002,0.0024,0.0048,0,null,0.004,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"KRT37",1,75,"非编码区",14100,"0.31=4/13",null,8688,"17q12-q21","NM_003770.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2113",21,10,0.48,{"$nulls":3},"A有","12308A","KRT72","chr12:52979741","m.1521G>T(E8)","非编码区","rs2292502",0.2,0.46,0.49,0.43,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KRT72",0.98,64,"非编码区",14200,"0.46=17/37",null,140807,"12q13.13","NM_001146226.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12024",33,33,1,{"$nulls":3},"A有","12308A","KRT75","chr12:52818504","c.1453T>G(E9)","p.485,S>R","rs298104",0.64,0.75,0.73,0.76,0.65,0.69,"纯合","无关","有rs号，MAF>=5%",null,"须部假性毛囊炎",null,612318,5,1,8,1,"KRT75",1,83,"错义",12220,"1.00=42/42",null,9119,"12q13","NM_004693.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11711",17,7,0.41,{"$nulls":3},"A有","12308A","KRT84","chr12:52777580","c.549A>C(E2)","p.183,V>V","rs1613929",0.33,0.23,0.24,0.22,0.15,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"KRT84",0.93,73,"剪切位点",13202,"0.35=8/23",null,3890,"12q13","NM_033045.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4784",8,8,1,{"$nulls":3},"A有","12308A","KRTAP10-1","chr21:45959557","c.477A>T(E1)","p.159,D>E","rs62218857",0.6,0.49,0.47,0.51,0.46,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"KRTAP10-1",0.96,7.3,"错义",12220,"1.00=14/14",null,386677,"21q22.3","NM_198691.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24685",64,64,1,{"$nulls":3},"A有","12308A","KRTAP19-6","chr21:31913982-31913982","c.171(E1):缺失G","缺失移码","rs5843453",0.79,0.69,0.68,0.7,0.11,0.71,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,2,0,"KRTAP19-6",1,200,"缺失移码",2120,"1.00=67/67",null,337973,"21q22.1","NM_181612.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21440",10,6,0.6,{"$nulls":3},"A有","12308A","KRTAP4-2","chr17:39333946","m.515C>G(E1)","非编码区","rs117515363",0.0098,0.058,0.067,0.049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"KRTAP4-2",1,25,"非编码区",14100,"0.45=10/22",null,85291,"17q12-q21","NM_033062.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15303",4,3,0.75,{"$nulls":3},"A有","12308A","KRTAP5-5","chr11:1651241","c.171A>C(E1)","p.57,G>G",{"$nulls":6},3.5E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"KRTAP5-5",1,25,"同义",13403,"0.75=3/4",null,439915,"11p15.5","NM_001001480.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15337",74,35,0.47,{"$nulls":3},"A有","12308A","L3MBTL3","chr6:130374102","c.473C>A(E6)","p.158,T>N","rs9388768",0.5,0.77,0.8,0.74,0.75,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"L3MBTL3",1,250,"错义",12220,"0.43=49/114",null,84456,"6q23","NM_001007102.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17651",25,25,1,{"$nulls":3},"A有","12308A","LAMA1","chr18:6999628","c.4479T>C(E32)","p.1493,S>S","rs625106",0.47,0.27,0.25,0.29,0.28,0.32,"纯合","无关","有rs号，MAF>=5%",null," Poretti-Boltshauser综合征","AR",615960,5,1,11,1,"LAMA1",0.99,160,"同义",13203,"0.97=38/39",null,284217,"18p11.3","NM_005559.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17792",161,161,1,{"$nulls":3},"A有","12308A","LAMA3","chr18:21511089","c.3673A>G(E28)","p.1225,S>G","rs1154233",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"非赫利茨型交界型大疱性表皮松解症","AR",226650,5,1,4,3,"LAMA3",0.97,170,"错义",12220,"1.00=289/289",null,3909,"18q11.2","NM_000227.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30045",93,92,0.99,{"$nulls":3},"A有","12308A","LAMB1","chr7:107564366","m.5726T>G(E34)","非编码区","rs7561",0.71,0.85,0.86,0.84,null,0.85,"纯合","无关","有rs号，MAF>=5%",null,"无脑回畸形5型","AR",615191,5,1,5,1,"LAMB1",1,160,"非编码区",14200,"0.99=142/143",null,3912,"7q22","NM_002291.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20224",86,86,1,{"$nulls":3},"A有","12308A","LAMP1","chr13:113965176","c.556C>A(E4)","p.186,R>R","rs9577503",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"LAMP1",0.95,110,"同义",13203,"1.00=153/153",null,3916,"13q34","NM_005561.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3765",3,3,1,{"$nulls":3},"A有","12308A","LAPTM4B","chr8:98863930","m.1338T>C(E7)","非编码区","rs1136595",0.51,0.37,0.37,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LAPTM4B",0.68,150,"非编码区",14200,"1.00=4/4",null,55353,"8q22.1","NM_018407.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20614",35,19,0.54,{"$nulls":3},"A有","12308A","LARS","chr5:145562143","m.152G>A(E1)","非编码区","rs11540215",0.18,0.19,0.15,0.23,null,null,"杂合","无关","有rs号，MAF>=5%",null,"小儿肝功能衰竭综合征1型 ","AR",615438,5,3,11,1,"LARS",1,290,"非编码区",14200,"0.53=27/51",null,51520,"5q32","NM_020117.9","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12507",14,6,0.43,{"$nulls":3},"A有","12308A","LCT","chr2:136545844","m.5845C>G(E17)","非编码区","rs1042712",0.74,0.79,0.77,0.82,null,0.81,"杂合","无关","有rs号，MAF>=5%",null,"幼儿型乳糖不耐症","AR",223000,5,3,6,1,"LCT",1,99,"非编码区",14200,"0.39=7/18",null,3938,"2q21","NM_002299.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2331",29,28,0.97,{"$nulls":3},"A有","12308A","LDHAL6B","chr15:59499228","c.89C>T(E1)","p.30,P>L","rs3809529",0.49,0.63,0.61,0.65,0.65,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LDHAL6B",1,130,"错义",12220,"0.96=44/46",null,92483,"15q22.2","NM_033195.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11191",69,43,0.62,{"$nulls":3},"A有","12308A","LENG1","chr19:54662128","c.204C>T(E2)","p.68,A>A",{"$nulls":6},0.00046,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"LENG1",1,38,"同义",13403,"0.55=66/120",null,79165,"19q13.4","NM_024316.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v364",89,89,1,{"$nulls":3},"A有","12308A","LGI2","chr4:25005193","c.1518G>A(E8)","p.506,Y>Y","rs2232028",0.77,0.97,0.97,0.98,0.97,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LGI2",1,140,"同义",13203,"1.00=142/142",null,55203,"4p15.2","NM_018176.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8757",5,2,0.4,{"$nulls":3},"A有","12308A","LGI4","chr19:35616016","m.2289G>A(E9)","非编码区","rs1048690",0.34,0.24,0.27,0.2,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"LGI4",0.89,25,"非编码区",14200,"0.57=4/7",null,163175,"19q13.12|19q13.11","NM_139284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v823",83,22,0.27,{"$nulls":3},"A有","12308A","LILRA6","chr19:54744141","IVS6+9C>G","非编码区","rs11670934",0.05,0.0048,0,0.0097,null,0.0012,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,5,0,"LILRA6",1,160,"非编码区",16103,"0.23=27/119",null,79168,"19q13.4","NM_024318.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24076",119,119,1,{"$nulls":3},"A有","12308A","LILRB2","chr19:54784130","c.59T>C(E3)","p.20,H>R","rs383369",0.23,0.74,0.66,0.83,0.8,0.66,"纯合","无关","有rs号，MAF>=5%",18439545,{"$nulls":3},5,null,6,0,"LILRB2",1,110,"错义",12220,"1.00=202/202",null,10288,"19q13.4","NM_001080978.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24184",17,16,0.94,{"$nulls":3},"A有","12308A","LIMS2","chr2:128396807","m.1307A>G(E11)","非编码区","rs891515",0.58,0.3,0.33,0.26,null,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"LIMS2",0.92,27,"非编码区",14200,"0.95=19/20",null,55679,"2q14.3","NM_001136037.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27004",156,83,0.53,{"$nulls":3},"A有","12308A","LIPJ","chr10:90356555","c.585A>T(E8)","p.195,S>S","rs41299155",0.04,0.031,0.048,0.015,0.022,0.02,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"LIPJ",1,270,"同义",13103,"0.54=141/260",null,142910,"10q23.31","NM_001010939.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20547",81,39,0.48,{"$nulls":3},"A有","12308A","LMF1","chr16:961054","c.540C>T(E4)","p.180,T>T","rs2277892",0.25,0.24,0.25,0.23,0.22,0.27,"杂合","无关","有rs号，MAF>=5%",null,"结合型脂肪酶缺失","AR",246650,5,3,6,1,"LMF1",0.91,32,"同义",13203,"0.52=71/137",null,64788,"16p13.3","NM_022773.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16261",6,3,0.5,{"$nulls":3},"A有","12308A","LMNB2","chr19:2430637","m.2170C>G(E12)","非编码区","rs1049910",0.53,0.64,0.61,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",null,"获得性局部脂质营养不良","AD",608709,5,1,1,1,"LMNB2",0.78,22,"非编码区",14200,"0.43=3/7",null,84823,"19p13.3","NM_032737.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15709",6,5,0.83,{"$nulls":3},"A有","12308A","LOC100996356","chr12:6647453","m.84G>T(E1)","非编码区","rs1803622",0.39,0.56,0.54,0.59,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LOC100996356",1,36,"非编码区",14200,"0.83=5/6",null,100996356,"-","XM_003846261.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23702",104,18,0.17,{"$nulls":3},"A有","12308A","LOC642131","chr15:22472912","c.722A>G(E6)","p.241,V>A","rs142850177",0.06,{"$nulls":5},"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LOC642131",0.73,240,"错义",12230,"0.19=33/171",null,642131,"15q11.2","XM_001716834.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26889",6,6,1,{"$nulls":3},"A有","12308A","LOXL4","chr10:100008436","m.2664G>A(E15)","非编码区","rs3793692",0.32,0.47,0.44,0.5,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LOXL4",1,51,"非编码区",14200,"1.00=6/6",null,84171,"10q24","NM_032211.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3968",46,23,0.5,{"$nulls":3},"A有","12308A","LPP","chr3:188327461","c.942C>T(E6)","p.314,D>D","rs1059380",0.59,0.4,0.43,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",null,"急性髓性白血病","AD",601626,5,1,3,1,"LPP",1,120,"同义",13203,"0.53=47/89",null,4026,"3q28","NM_001167671.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11071",13,12,0.92,{"$nulls":3},"A有","12308A","LRIT2","chr10:85981801","c.1528T>G(E3)","p.510,T>P","rs6585847",0.56,0.39,0.41,0.38,0.33,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LRIT2",1,70,"错义",12220,"0.94=15/16",null,340745,"10q23.1","NM_001017924.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2210",45,20,0.44,{"$nulls":3},"A有","12308A","LRP1","chr12:57548364","c.1107T>C(E8)","p.369,P>P","rs34574998",0.054,0.096,0.12,0.073,0.096,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"LRP1",1,44,"同义",13203,"0.45=28/62",null,4035,"12q13-q14","NM_002332.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9411",32,32,1,{"$nulls":3},"A有","12308A","LRP5","chr11:68171013","c.1647T>C(E8)","p.549,F>F","rs545382",0.84,0.98,0.99,0.98,0.97,0.99,"纯合","无关","有rs号，MAF>=5%","17137849;18588671;19506792","骨矿物质密度数量性状位点1","AD",601884,5,1,2,7,"LRP5",0.98,30,"同义",13203,"1.00=52/52",null,4041,"11q13.4","NM_002335.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12641",91,37,0.41,{"$nulls":3},"A有","12308A","LRRC17","chr7:102574920","c.560G>C(E2)","p.187,G>A","rs1057066",0.19,0.3,0.3,0.3,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LRRC17",1,170,"错义",12220,"0.40=58/144",null,10234,"7q22.1","NM_001031692.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2072",6,3,0.5,{"$nulls":3},"A有","12308A","LRRC32","chr11:76372052","c.585A>G(E3)","p.195,G>G","rs3740779",0.63,0.6,0.63,0.57,0.52,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LRRC32",0.99,12,"同义",13203,"0.50=4/8",null,2615,"11q13.5-q14","NM_001128922.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28369",258,136,0.53,{"$nulls":3},"A有","12308A","LRRC69","chr8:92136728","c.191C>T(E2)","p.64,T>I","rs11785003",0.47,0.55,0.57,0.52,0.52,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LRRC69",1,260,"错义",12220,"0.49=217/439",null,100130742,"8q21.3","NM_001129890.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1735",7,7,1,{"$nulls":3},"A有","12308A","LRRFIP1","chr2:238688305","m.2117C>T(E24)","非编码区","rs2117364",0.28,0.42,0.37,0.47,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"LRRFIP1",0.97,160,"非编码区",14200,"1.00=9/9",null,9208,"2q37.3","NM_001137550.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4714",2,2,1,{"$nulls":3},"A有","12308A","LSG1","chr3:194393034","m.173C>A(E1)","非编码区","rs898818",0.89,0.98,0.98,0.97,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"LSG1",1,180,"非编码区",14200,"1.00=2/2",null,55341,"3q29","NM_018385.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24550",162,80,0.49,{"$nulls":3},"A有","12308A","LTBP1","chr2:33447202","c.882C>T(E5)","p.294,N>N","rs2290448",0.33,0.33,0.3,0.36,0.33,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LTBP1",0.91,180,"同义",13203,"0.48=135/281",null,4052,"2p22-p21","NM_000627.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6345",151,70,0.46,{"$nulls":3},"A有","12308A","LY75","chr2:160673519","c.4178G>A(E30)","p.1393,T>I","rs35941588",0.035,0.031,0.0095,0.053,0.038,0.028,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"LY75",1,230,"错义",12110,"0.48=119/250",null,4065,"2q24","NM_002349.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8847",95,43,0.45,{"$nulls":3},"A有","12308A","LYSMD2","chr15:52017273","c.46T>C(E2)","p.16,I>V","rs3751593",0.021,0.077,0.09,0.063,0.091,0.069,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"LYSMD2",0.58,86,"错义",12120,"0.47=74/158",null,256586,"15q21.2","NM_001143917.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5385",68,29,0.43,{"$nulls":3},"A有","12308A","MADD","chr11:47298360","c.1041G>A(E5)","p.347,E>E","rs326214",0.47,0.31,0.26,0.37,0.33,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MADD",1,120,"同义",13203,"0.40=40/100",null,8567,"11p11.2","NM_001135943.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5481",42,42,1,{"$nulls":3},"A有","12308A","MAGEA5","chrX:151283567","m.618A>T(E3)","非编码区","rs210575",null,1,1,1,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"MAGEA5",1,40,"非编码区",14300,"1.00=66/66",null,4104,"Xq28","NM_021049.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19150",7,7,1,{"$nulls":3},"A有","12308A","MAMDC4","chr9:139752899","c.2722T>G(E22)","p.908,W>G","rs2275156",{"$nulls":4},0.78,0.88,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"MAMDC4",0.93,11,"错义",12310,"1.00=14/14",null,158056,"9q34.3","NM_206920.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27999",50,50,1,{"$nulls":3},"A有","12308A","MAN2A2","chr15:91452595","c.1235A>G(E8)","p.412,Q>R","rs2106673",0.51,0.96,0.97,0.96,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MAN2A2",1,61,"错义",12220,"1.00=84/84",null,4122,"15q26.1","NM_006122.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19679",10,6,0.6,{"$nulls":3},"A有","12308A","MAP2K3","chr17:21215446","IVS9-8C>T","剪切位点","rs62055363",{"$nulls":5},0.5,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,22,0,"MAP2K3",1,100,"剪切位点",16302,"0.56=9/16",null,5606,"17q11.2","NM_002756.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18894",71,71,1,{"$nulls":3},"A有","12308A","MAP3K4","chr6:161469774","c.470G>A(E3)","p.157,R>H","rs4559074",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MAP3K4",0.97,170,"错义",12230,"1.00=120/120",null,4216,"6q26","NM_005922.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21777",69,69,1,{"$nulls":3},"A有","12308A","MAP4K5","chr14:50929508","IVS12-9C>A","剪切位点","rs11624731",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MAP4K5",1,320,"剪切位点",16202,"1.00=101/101",null,11183,"14q11.2-q21","NM_006575.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3684",7,3,0.43,{"$nulls":3},"A有","12308A","MAPK4","chr18:48190271","m.943T>G(E2)","非编码区","rs3752085",0.66,0.74,0.74,0.73,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MAPK4",0.88,46,"非编码区",14200,"0.45=5/11",null,5596,"18q21.2","NM_002747.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5539",45,45,1,{"$nulls":3},"A有","12308A","MARCH7","chr2:160605268","c.1467T>C(E5)","p.489,P>P","rs1365803",0.89,0.72,0.74,0.7,0.75,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MARCH7",1,180,"同义",13203,"1.00=84/84",null,64844,"2q24.2","NM_022826.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12200",37,12,0.32,{"$nulls":3},"A有","12308A","MAST2","chr1:46498375","c.3522A>G(E26)","p.1174,V>V","rs1622208",0.69,0.7,0.71,0.69,0.68,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MAST2",0.97,81,"同义",13203,"0.34=20/58",null,23139,"1p34.1","NM_015112.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7085",106,60,0.57,{"$nulls":3},"A有","12308A","MATN2","chr8:99006787","c.1161C>T(E7)","p.387,C>C","rs16896514",0.11,0.12,0.14,0.1,0.12,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MATN2",1,140,"同义",13203,"0.60=109/182",null,4147,"8q22","NM_002380.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3177",23,18,0.78,{"$nulls":3},"A有","12308A","MBP","chr18:74817006-74817007","UTR:插入ATT","非编码区","rs35768267",{"$nulls":4},0.048,null,"杂合","无关","不在基因上的突变",{"$nulls":4},5,null,4,0,"MBP",1,85,"非编码区",2600,"0.71=20/28",null,4155,"18q23","NM_001025081.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1627",46,19,0.41,{"$nulls":3},"A有","12308A","MCAT","chr22:43529314","c.908G>C(E4)","p.303,A>G","rs13815",0.49,0.63,0.63,0.62,0.58,0.59,"杂合","无关","有rs号，MAF>=5%",18636124,{"$nulls":3},5,null,2,0,"MCAT",0.84,55,"错义",12220,"0.48=29/61",null,27349,"22q13.31","NM_173467.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19082",44,44,1,{"$nulls":3},"A有","12308A","MCF2","chrX:138724725","m.276G>A(E1)","非编码区","rs926563",null,0.99,0.99,0.99,null,1,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"MCF2",0.98,190,"非编码区",14300,"1.00=66/66",null,4168,"Xq27","NM_001171877.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27876",26,11,0.42,{"$nulls":3},"A有","12308A","MDGA2","chr14:47310983","m.3387T>C(E17)","非编码区","rs11844549",0.33,0.26,0.26,0.26,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MDGA2",1,230,"非编码区",14200,"0.50=15/30",null,161357,"14q21.3","NM_001113498.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23233",42,42,1,{"$nulls":3},"A有","12308A","ME3","chr11:86267714","c.348C>A(E3)","p.116,R>R","rs12287767",0.28,0.51,0.53,0.49,0.48,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ME3",1,110,"同义",13203,"1.00=68/68",null,10873,"11cen-q22.3","NM_001014811.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2844",20,8,0.4,{"$nulls":3},"A有","12308A","MED15","chr22:20940085","c.2202G>A(E17)","p.734,P>P","rs2285699",0.12,0.42,0.43,0.4,0.42,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MED15",0.97,39,"同义",13203,"0.45=15/33",null,51586,"22q11.2","NM_001003891.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25680",10,4,0.4,{"$nulls":3},"A有","12308A","MEGF6","chr1:3425183","c.1599G>A(E13)","p.533,C>C","rs61735125",0.065,0.099,0.1,0.092,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MEGF6",0.87,5.9,"同义",13203,"0.43=6/14",null,1953,"1p36.3","NM_001409.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25566",117,52,0.44,{"$nulls":3},"A有","12308A","MEP1A","chr6:46802370","c.1665G>A(E12)","p.555,T>T","rs4714952",0.71,0.43,0.44,0.42,0.42,0.48,"杂合","无关","有rs号，MAF>=5%",19262505,{"$nulls":3},5,null,8,0,"MEP1A",1,140,"同义",13203,"0.45=91/204",null,4224,"6p12-p11","NM_005588.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18925",60,33,0.55,{"$nulls":3},"A有","12308A","METTL24","chr6:110636694","IVS2-10T>C","剪切位点","rs141656597",0.0022,0.012,0.0095,0.015,null,0.0093,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,1,0,"METTL24",0.71,120,"剪切位点",16101,"0.53=46/87",null,728464,"6q21","NM_001123364.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8765",106,106,1,{"$nulls":3},"A有","12308A","MFAP5","chr12:8808006","IVS5+5T>C","剪切位点","rs11046589",null,0.49,0.51,0.47,0.46,0.43,"纯合","未知","剪切位点预测结果为无害",null,"家族性胸主动脉瘤9型",null,616166,4,1,1,1,"MFAP5",1,240,"剪切位点",16302,"0.98=217/221",null,8076,"12p13.1-p12.3","NM_003480.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16637",39,16,0.41,{"$nulls":3},"A有","12308A","MFN2","chr1:12071680","m.2640A>G(E18)","非编码区","rs1042842",0.73,0.65,0.67,0.63,null,null,"杂合","无关","有rs号，MAF>=5%",null,"恰克-玛丽-杜斯氏症2A2型，轴索型","AD,AR",609260,5,1,1,2,"MFN2",1,81,"非编码区",14200,"0.41=24/58",null,9927,"1p36.22","NM_001127660.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17388",5,5,1,{"$nulls":3},"A有","12308A","MICA","chr6:31371430","c.21T>C(E1)","p.7,F>F",null,null,0.79,0.73,0.85,0.78,0.82,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,18,0,"MICA",1,68,"同义",13403,"1.00=7/7",null,100507436,"6p21.33","NM_001177519.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30408",67,67,1,{"$nulls":3},"A有","12308A","MICAL2","chr11:12225946","c.414T>G(E4)","p.138,R>R","rs3763823",0.7,0.67,0.68,0.66,0.68,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MICAL2",1,140,"同义",13203,"0.99=107/108",null,9645,"11p15.3","NM_014632.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30383",37,23,0.62,{"$nulls":3},"A有","12308A","MICB","chr6:31474884","c.699G>A(E4)","p.233,R>R",null,null,0.043,0.024,0.063,null,0.055,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"MICB",0.94,71,"同义",13403,"0.63=38/60",null,4277,"6p21.3","NM_005931.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8812",41,21,0.51,{"$nulls":3},"A有","12308A","MIS18BP1","chr14:45711594","c.786T>C(E4)","p.262,K>K","rs1266209",0.29,0.15,0.16,0.14,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MIS18BP1",1,180,"同义",13203,"0.48=29/60",null,55320,"14q21.2","NM_018353.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23083",54,54,1,{"$nulls":3},"A有","12308A","MLH3","chr14:75513883","c.2476T>C(E2)","p.826,N>D","rs175081",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性非息肉性结直肠癌7型（Lynch综合征）",null,614385,5,1,2,3,"MLH3",1,160,"错义",12220,"1.00=65/65",null,27030,"14q24.3","NM_001040108.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24956",40,14,0.35,{"$nulls":3},"A有","12308A","MLL3","chr7:151873730","c.8808C>A(E38)","p.2936,G>G",{"$nulls":6},0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"MLL3",1,180,"同义",13403,"0.40=25/62",null,58508,"7q36.1","NM_170606.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14491",126,57,0.45,{"$nulls":3},"A有","12308A","MMAA","chr4:146576418","c.1089G>C(E7)","p.363,Q>H","rs2270655",0.081,0.11,0.11,0.1,0.072,0.088,"杂合","无关","有rs号，MAF>=5%",null,"甲基丙二酸尿症Cbla型","AR",251100,5,3,1,1,"MMAA",1,210,"错义",12220,"0.45=102/227",null,166785,"4q31.21","NM_172250.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29824",2,2,1,{"$nulls":3},"A有","12308A","MMP28","chr17:34093681","c.1400G>A(E8)","p.467,A>V","rs79742527",0.026,0.091,0.1,0.083,0.095,0.13,"纯合","未知","未知",{"$nulls":4},3,null,4,0,"MMP28",0.84,38,"错义",12130,"1.00=3/3",null,79148,"17q21.1","NM_024302.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12072",23,23,1,{"$nulls":3},"A有","12308A","MOB3B","chr9:27455585","m.460G>A(E2)","非编码区","rs10757661",0.63,0.58,0.58,0.58,null,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MOB3B",1,180,"非编码区",14200,"1.00=31/31",null,79817,"9p21.2","NM_024761.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24900",100,100,1,{"$nulls":3},"A有","12308A","MOGS","chr2:74690378","c.397C>T(E4)","p.133,D>N","rs1063588",0.52,0.82,0.81,0.84,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","16251468;20808933","先天性糖基化病2B型","AR",606056,5,1,2,1,"MOGS",1,45,"错义",12220,"1.00=157/157",null,7841,"2p13.1","NM_001146158.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3219",63,31,0.49,{"$nulls":3},"A有","12308A","MPEG1","chr11:58978940","c.1399C>T(E1)","p.467,A>T","rs544864",0.27,0.33,0.3,0.36,0.43,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MPEG1",1,70,"错义",12220,"0.49=59/120",null,219972,"11q12.1","NM_001039396.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12474",129,66,0.51,{"$nulls":3},"A有","12308A","MPP7","chr10:28378613","c.1110G>A(E14)","p.370,L>L","rs11006853",0.15,0.28,0.28,0.28,0.25,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MPP7",1,210,"同义",13203,"0.52=119/230",null,143098,"10p12.1","NM_173496.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2077",46,46,1,{"$nulls":3},"A有","12308A","MRAS","chr3:138091701","IVS1-7G>T","剪切位点","rs1199333",0.88,0.97,0.99,0.96,null,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MRAS",1,100,"剪切位点",16202,"0.98=59/60",null,22808,"3q22.3","NM_001085049.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22170",76,25,0.33,{"$nulls":3},"A有","12308A","MRPL18","chr6:160211646-160211648","c.27(E1)至c.29(E1):缺失GTT","缺失非移码","rs58504486",0.67,0.57,0.57,0.56,0.5,0.57,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,3,0,"MRPL18",1,110,"缺失非移码",2222,"0.34=30/88",null,29074,"6q25.3","NM_014161.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26963",50,50,1,{"$nulls":3},"A有","12308A","MRPS15","chr1:36921533","IVS7-7A>G","剪切位点","rs2275480",0.14,0.31,0.28,0.33,0.29,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MRPS15",1,110,"剪切位点",16202,"1.00=76/76",null,64960,"1p34.3","NM_031280.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25389",126,126,1,{"$nulls":3},"A有","12308A","MRPS9","chr2:105665808","c.315C>T(E2)","p.105,D>D","rs11538197",0.19,0.15,0.15,0.15,0.1,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MRPS9",1,300,"剪切位点",13201,"1.00=184/184",null,64965,"2q12.1","NM_182640.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26132",118,116,0.98,{"$nulls":3},"A有","12308A","MS4A4A","chr11:60073597","c.412C>T(E5)","p.138,L>L","rs4644658",null,0.83,0.81,0.84,0.85,0.85,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"MS4A4A",1,230,"同义",13303,"0.99=194/196",null,51338,"11q12","NM_001243266.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22738",14,4,0.29,{"$nulls":3},"A有","12308A","MSI2","chr17:55709380","m.979A>G(E10)","非编码区","rs3760161",0.22,0.4,0.41,0.39,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MSI2",0.99,110,"非编码区",14200,"0.29=5/17",null,124540,"17q22","NM_170721.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11817",215,111,0.52,{"$nulls":3},"A有","12308A","MTCH2","chr11:47640429","c.868G>C(E13)","p.290,P>A","rs1064608",0.26,0.31,0.31,0.31,0.29,null,"杂合","无关","有rs号，MAF>=5%","19079261;19474294",{"$nulls":3},5,null,1,0,"MTCH2",0.96,350,"错义",12210,"0.51=190/371",null,23788,"11p11.2","NM_014342.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7871",35,19,0.54,{"$nulls":3},"A有","12308A","MTMR11","chr1:149908108","c.81A>G(E2)","p.27,N>N","rs1868992",0.42,0.25,0.26,0.24,0.28,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MTMR11",1,120,"同义",13203,"0.50=27/54",null,10903,"1q12-q21","NM_001145862.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12882",194,85,0.44,{"$nulls":3},"A有","12308A","MTTP","chr4:100510859","c.453T>C(E5)","p.151,G>G","rs991811",0.54,0.67,0.63,0.72,0.63,0.65,"杂合","无关","有rs号，MAF>=5%",null,"腹部肥胖-代谢综合征1型",null,605552,5,2,2,2,"MTTP",1,220,"同义",13203,"0.43=157/365",null,4547,"4q24","NM_000253.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10065",119,118,0.99,{"$nulls":3},"A有","12308A","MTUS2","chr13:29898768","c.2855A>C(E5)","p.952,Q>P","rs928661",0.77,0.89,0.89,0.9,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MTUS2",1,99,"错义",12210,"0.99=210/213",null,23281,"13q12.3","NM_001033602.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20414",131,67,0.51,{"$nulls":3},"A有","12308A","MUC16","chr19:9003645","c.39995G>A(E49)","p.13332,T>I","rs11085777",0.25,0.25,0.25,0.26,0.26,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,88,0,"MUC16",1,120,"错义",12220,"0.55=126/231",null,94025,"19p13.2","NM_024690.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20386",52,52,1,{"$nulls":3},"A有","12308A","MUC16","chr19:9062544","c.24902T>G(E3)","p.8301,N>T","rs2547063",0.87,0.85,0.85,0.85,0.85,0.84,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,88,0,"MUC16",1,120,"错义",12220,"1.00=76/76",null,94025,"19p13.2","NM_024690.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20399",34,19,0.56,{"$nulls":3},"A有","12308A","MUC16","chr19:9076950","c.10496C>A(E3)","p.3499,R>M","rs2547076",0.25,0.24,0.23,0.25,0.28,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,88,0,"MUC16",1,120,"错义",12220,"0.50=23/46",null,94025,"19p13.2","NM_024690.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20394",67,36,0.54,{"$nulls":3},"A有","12308A","MUC16","chr19:9086819","c.4996G>A(E1)","p.1666,L>L","rs1823056",0.19,0.3,0.3,0.3,0.32,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,88,0,"MUC16",1,120,"同义",13203,"0.54=59/110",null,94025,"19p13.2","NM_024690.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17592",74,38,0.51,{"$nulls":3},"A有","12308A","MUC20","chr3:195452005","c.426C>T(E1)","p.142,S>S","rs145612981",{"$nulls":4},0.42,0.15,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,18,0,"MUC20",1,150,"同义",13303,"0.50=60/119",null,200958,"3q29","NM_001098516.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5697",41,5,0.12,{"$nulls":3},"A有","12308A","MUC4","chr3:195507717","c.10734G>T(E2)","p.3578,S>S","rs376353447",{"$nulls":4},0.41,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"MUC4",0.99,76,"同义",13303,"0.17=11/63",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5670",65,14,0.22,{"$nulls":3},"A有","12308A","MUC4","chr3:195509955","c.8496A>C(E2)","p.2832,S>S","rs71635078",{"$nulls":4},0.44,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"MUC4",0.99,76,"同义",13303,"0.21=23/112",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5698",67,17,0.25,{"$nulls":3},"A有","12308A","MUC4","chr3:195512343","c.6108G>A(E2)","p.2036,T>T","rs113457754",{"$nulls":4},0.42,0.47,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"MUC4",0.99,76,"同义",13303,"0.27=28/104",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24988",50,24,0.48,{"$nulls":3},"A有","12308A","MUC5B","chr11:1268513","c.10403G>C(E31)","p.3468,R>P","rs2943529",0.49,0.67,0.69,0.65,0.65,0.66,"杂合","无关","有rs号，MAF>=5%",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,5,1,29,1,"MUC5B",0.98,61,"错义",12220,"0.46=32/70",null,727897,"11p15.5","NM_002458.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12627",133,52,0.39,{"$nulls":3},"A有","12308A","MUC7","chr4:71347207","c.746T>C(E4)","p.249,L>P","rs78564790",{"$nulls":4},0.35,0.00094,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"哮喘，易感","AD",600807,3,1,2,1,"MUC7",1,280,"错义",12320,"0.37=77/209",null,4589,"4q13.3","NM_001145006.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9625",47,47,1,{"$nulls":3},"A有","12308A","MXRA5","chrX:3239545","c.4181C>T(E5)","p.1394,G>D","rs1726199",null,0.73,0.72,0.74,0.77,0.78,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,13,0,"MXRA5",1,47,"错义",12320,"1.00=70/70",null,25878,"Xp22.33","NM_015419.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16860",66,66,1,{"$nulls":3},"A有","12308A","MYEOV2","chr2:241066280","c.459C>T(E5)","p.153,E>E","rs4292120",0.72,0.76,0.76,0.76,0.76,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MYEOV2",0.8,110,"同义",13203,"0.99=109/110",null,150678,"2q37.3","NM_138336.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8883",57,27,0.47,{"$nulls":3},"A有","12308A","MYH13","chr17:10219113","c.3881C>T(E29)","p.1294,R>Q","rs17690195",0.14,0.15,0.15,0.15,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MYH13",1,150,"错义",12220,"0.45=40/89",null,8735,"17p13","NM_003802.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5086",32,11,0.34,{"$nulls":3},"A有","12308A","MYH3","chr17:10536018","c.4731G>A(E34)","p.1577,I>I","rs2285479",0.47,0.38,0.38,0.39,0.31,0.36,"杂合","无关","有rs号，MAF>=5%",null,"远端关节弯曲综合征2A","AD",193700,5,1,9,2,"MYH3",1,140,"同义",13203,"0.30=13/44",null,4621,"17p13.1","NM_002470.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19382",144,144,1,{"$nulls":3},"A有","12308A","MYH4","chr17:10362746","IVS14-8A>G","剪切位点","rs2058099",0.53,0.88,0.9,0.85,null,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MYH4",1,220,"剪切位点",16202,"1.00=203/204",null,4622,"17p13.1","NM_017533.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30554",54,25,0.46,{"$nulls":3},"A有","12308A","MYH7","chr14:23900794","c.732G>A(E7)","p.244,F>F","rs2069542",0.26,0.091,0.076,0.11,0.069,0.071,"杂合","无关","有rs号，MAF>=5%","20592870;24938736","透明小体肌病","AD",608358,5,1,4,5,"MYH7",1,74,"剪切位点",13201,"0.43=35/81",null,4625,"14q12","NM_000257.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28204",62,62,1,{"$nulls":3},"A有","12308A","MYH9","chr22:36710183","IVS13+7T>C","非编码区","rs3752462",0.39,0.22,0.19,0.25,0.21,0.22,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传耳聋17型","AD",603622,5,1,4,6,"MYH9",1,51,"非编码区",16203,"0.99=103/104",null,4627,"22q13.1","NM_002473.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3538",15,15,1,{"$nulls":3},"A有","12308A","MYLK3","chr16:46737510","m.6682T>C(E13)","非编码区","rs425556",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MYLK3",0.92,61,"非编码区",14200,"1.00=19/19",null,91807,"16q11.2","NM_182493.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7769",20,20,1,{"$nulls":3},"A有","12308A","MYO18B","chr22:26173661","c.1981T>C(E8)","p.661,W>R","rs5761170",0.93,0.85,0.87,0.83,0.84,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"MYO18B",1,68,"错义",12220,"1.00=29/29",null,84700,"22q12.1","NM_032608.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12608",2,2,1,{"$nulls":3},"A有","12308A","MYO5B","chr18:47349841","m.8835G>A(E40)","非编码区","rs112057683",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",null,"先天性腹泻2型(微绒毛萎缩性)","AR",251850,3,1,5,1,"MYO5B",1,110,"非编码区",14300,"1.00=3/3",null,4645,"18q21","NM_001080467.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21808",4,4,1,{"$nulls":3},"A有","12308A","MYO7B","chr2:128388862","c.4941G>C(E36)","p.1647,E>D","rs13025959",0.17,0.18,0.2,0.16,0.15,0.15,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MYO7B",1,50,"错义",12210,"1.00=7/7",null,4648,"2q21.1","NM_001080527.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15590",23,23,1,{"$nulls":3},"A有","12308A","MYOM3","chr1:24413159","c.1773T>C(E15)","p.591,E>E","rs6424152",0.37,0.44,0.43,0.45,0.48,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"MYOM3",0.98,69,"同义",13203,"1.00=32/32",null,127294,"1p36.11","NM_152372.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15842",7,4,0.57,{"$nulls":3},"A有","12308A","N4BP3","chr5:177547336","c.488G>A(E3)","p.163,R>Q","rs3812082",0.15,0.15,0.11,0.18,0.17,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"N4BP3",0.97,7.6,"错义",12220,"0.60=6/10",null,23138,"5q35.3","NM_015111.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8112",16,8,0.5,{"$nulls":3},"A有","12308A","NAALAD2","chr11:89925043","m.2460G>A(E19)","非编码区","rs548512694",0.0008,0.0024,0,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"NAALAD2",1,240,"非编码区",14100,"0.40=8/20",null,10003,"11q14.3-q21","NM_005467.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18644",91,91,1,{"$nulls":3},"A有","12308A","NACA2","chr17:59668352","c.190C>T(E1)","p.64,V>I","rs17531723",0.15,0.14,0.15,0.14,0.17,0.19,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NACA2",1,200,"错义",12220,"0.99=147/148",null,342538,"17q23.2","NM_199290.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9310",5,5,1,{"$nulls":3},"A有","12308A","NAPB","chr20:23401975","c.65T>C(E1)","p.22,K>R","rs140977227",0.0094,0.05,0.043,0.058,0.033,0.12,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"NAPB",1,210,"错义",12120,"1.00=8/8",null,63908,"20p12.3-p11.21","NM_022080.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9447",28,19,0.68,{"$nulls":3},"A有","12308A","NAV2","chr11:19955500","c.1518A>G(E7)","p.506,K>K","rs1372989",0.73,0.63,0.67,0.6,0.61,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"NAV2",1,94,"同义",13203,"0.69=27/39",null,89797,"11p15.1","NM_001111018.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9442",46,46,1,{"$nulls":3},"A有","12308A","NAV2","chr11:20124914","c.6339A>C(E33)","p.2113,G>G","rs2243411",0.92,0.94,0.96,0.93,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"NAV2",1,94,"同义",13203,"1.00=72/72",null,89797,"11p15.1","NM_001111018.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28639",292,254,0.87,{"$nulls":3},"A有","12308A","NBPF1","chr1:16909052","c.1293C>T(E14)","p.431,Q>Q","rs140548913",0.83,0.83,0.83,0.83,0.64,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"NBPF1",1,790,"同义",13203,"0.86=419/486",null,55672,"1p36.13","NM_017940.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15434",73,73,1,{"$nulls":3},"A有","12308A","NBPF9","chr1:144828583","c.1855G>A(E15)","p.619,A>T","rs28712116",{"$nulls":4},0.5,0.36,"纯合","未知","未知",{"$nulls":4},3,null,13,0,"NBPF9",1,200,"错义",12330,"1.00=79/79",null,400818,"1q21.1","NM_001037675.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29750",88,34,0.39,{"$nulls":3},"A有","12308A","NCAPH","chr2:97020049","c.1131T>C(E9)","p.377,D>D","rs3731935",0.28,0.14,0.14,0.15,0.14,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NCAPH",1,190,"同义",13203,"0.35=48/136",null,23397,"2q11.2","NM_015341.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9472",2,2,1,{"$nulls":3},"A有","12308A","NCKAP5L","chr12:50189807","c.1836C>A(E8)","p.612,S>S","rs2720298",0.6,0.63,0.64,0.62,0.51,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NCKAP5L",0.95,13,"同义",13203,"1.00=2/2",null,57701,"12q13.12","NM_001037806.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12683",61,29,0.48,{"$nulls":3},"A有","12308A","NDST4","chr4:115749005","c.2586C>T(E14)","p.862,S>S","rs6843860",0.31,0.15,0.15,0.15,0.18,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NDST4",1,240,"同义",13203,"0.52=61/117",null,64579,"4q26","NM_022569.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12145",3,3,1,{"$nulls":3},"A有","12308A","NDUFB1","chr14:92588002","c.120T>G(E1)","p.40,V>V","rs3818263",0.54,0.87,0.88,0.86,0.74,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NDUFB1",1,210,"同义",13203,"1.00=3/3",null,4707,"14q32.12","NM_004545.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21856",118,117,0.99,{"$nulls":3},"A有","12308A","NEB","chr2:152490458","c.9124A>G(E65)","p.3042,C>R","rs6710212",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"2型杆状体肌病","AR",256030,5,1,22,1,"NEB",1,260,"错义",12220,"0.99=200/202",null,4703,"2q22","NM_001164507.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15162",48,28,0.58,{"$nulls":3},"A有","12308A","NEDD9","chr6:11185533","c.2367G>A(E8)","p.789,T>T","rs1050775",0.49,0.34,0.36,0.32,0.33,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"NEDD9",1,89,"同义",13203,"0.57=45/79",null,4739,"6p25-p24","NM_001142393.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23389",16,15,0.94,{"$nulls":3},"A有","12308A","NES","chr1:156639753","c.4227G>A(E4)","p.1409,S>S","rs11582300",0.62,0.85,0.81,0.89,0.79,0.85,"纯合","无关","有rs号，MAF>=5%",18724036,{"$nulls":3},5,null,3,0,"NES",0.93,44,"同义",13203,"0.96=22/23",null,10763,"1q23.1","NM_006617.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14830",76,39,0.51,{"$nulls":3},"A有","12308A","NEUROD4","chr12:55420289","c.66T>C(E2)","p.22,D>D",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"NEUROD4",1,150,"同义",13403,"0.52=71/136",null,58158,"12q13.2","NM_021191.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8856",89,89,1,{"$nulls":3},"A有","12308A","NGDN","chr14:23945366","IVS7+5A>G","剪切位点","rs2295706",0.7,0.63,0.65,0.61,null,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NGDN",1,160,"剪切位点",16202,"0.99=148/149",null,25983,"14q11.2","NM_001042635.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6576",204,203,1,{"$nulls":3},"A有","12308A","NGLY1","chr3:25775356","IVS8+7A>C","非编码区","rs6550987",0.8,0.95,0.95,0.95,0.82,0.94,"纯合","无关","有rs号，MAF>=5%",null,"先天性糖基化障碍Ⅳ型","AR",615273,5,1,1,1,"NGLY1",1,260,"非编码区",16203,"0.99=357/359",null,55768,"3p24.2","NM_001145293.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30221",73,73,1,{"$nulls":3},"A有","12308A","NIN","chr14:51239067","c.933C>G(E9)","p.311,L>L","rs8020503",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"Seckel综合征7型","AR",614851,5,1,9,1,"NIN",1,140,"同义",13203,"1.00=132/132",null,51199,"14q22.1","NM_016350.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14918",20,20,1,{"$nulls":3},"A有","12308A","NKAPL","chr6:28227436","c.287A>G(E1)","p.96,Y>C","rs12000",0.44,0.42,0.42,0.41,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",24972756,{"$nulls":3},5,null,4,0,"NKAPL",0.93,94,"错义",12220,"0.97=28/29",null,222698,"6p22.1","NM_001007531.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20986",85,85,1,{"$nulls":3},"A有","12308A","NLRP13","chr19:56423893","c.1290G>A(E5)","p.430,T>T","rs303998",0.65,0.73,0.75,0.71,0.72,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"NLRP13",1,150,"同义",13203,"1.00=134/134",null,126204,"19q13.43","NM_176810.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26754",112,56,0.5,{"$nulls":3},"A有","12308A","NLRP4","chr19:56392920","c.2952C>T(E10)","p.984,D>D","rs12975929",0.22,0.28,0.24,0.32,0.19,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NLRP4",1,100,"同义",13203,"0.47=92/197",null,147945,"19q13.43","NM_134444.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1648",49,29,0.59,{"$nulls":3},"A有","12308A","NLRP9","chr19:56220245","m.3037C>G(E9)","非编码区","rs2287832",0.23,0.19,0.21,0.17,null,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NLRP9",1,110,"非编码区",14200,"0.58=43/74",null,338321,"19q13.42","NM_176820.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11939",115,55,0.48,{"$nulls":3},"A有","12308A","NOL10","chr2:10712278","c.1908C>T(E20)","p.636,L>L","rs3732114",0.31,0.43,0.43,0.43,0.45,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NOL10",1,280,"同义",13203,"0.46=94/205",null,79954,"2p25.1","NM_001261392.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6868",52,51,0.98,{"$nulls":3},"A有","12308A","NOMO2","chr16:18542848","c.1477C>T(E13)","p.493,V>M","rs200082338",8.6E-3,0.031,0.043,0.019,0.092,0.0016,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"NOMO2",0.98,540,"错义",12120,"0.98=63/64",null,283820,"16p12.3","NM_001004060.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16019",32,12,0.38,{"$nulls":3},"A有","12308A","NOS2","chr17:26125918","IVS1-10G>A","剪切位点","rs3730013",0.34,0.31,0.3,0.32,null,0.39,"杂合","无关","有rs号，MAF>=5%",null,"疟疾,易感",null,611162,5,2,8,2,"NOS2",1,73,"剪切位点",16202,"0.36=18/50",null,4843,"17q11.2-q12","NM_000625.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21038",310,65,0.21,{"$nulls":3},"A有","12308A","NOTCH2NL","chr1:145281408","c.338C>T(E4)","p.113,P>L","rs201164506",{"$nulls":4},0.41,0.44,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"NOTCH2NL",1,590,"错义",12310,"0.21=118/575",null,388677,"1q21.2","NM_203458.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28011",167,167,1,{"$nulls":3},"A有","12308A","NPHP1","chr2:110922703","c.654C>T(E7)","p.218,E>E","rs11675767",0.47,0.56,0.56,0.56,0.55,0.6,"纯合","无关","有rs号，MAF>=5%",null,"肾消耗病1型","AR",256100,5,1,1,3,"NPHP1",1,290,"同义",13203,"1.00=299/299",null,4867,"2q13","NM_000272.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10581",11,6,0.55,{"$nulls":3},"A有","12308A","NPHS2","chr1:179520254","m.1291C>G(E8)","非编码区","rs1410591",0.59,0.5,0.53,0.48,null,null,"杂合","无关","有rs号，MAF>=5%",null,"肾病综合征2型（激素耐药型）","AR",600995,5,3,3,1,"NPHS2",0.83,130,"非编码区",14200,"0.58=7/12",null,7827,"1q25.2","NM_014625.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23540",22,22,1,{"$nulls":3},"A有","12308A","NR1I2","chr3:119533910","c.879T>C(E6)","p.293,N>N","rs4058490",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NR1I2",1,74,"同义",13203,"1.00=34/34",null,8856,"3q12-q13.3","NM_003889.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17341",154,74,0.48,{"$nulls":3},"A有","12308A","NRAP","chr10:115370254","c.3567A>G(E31)","p.1189,I>I","rs12243176",0.47,0.57,0.57,0.58,0.54,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"NRAP",1,160,"同义",13203,"0.51=150/295",null,4892,"10q24-q26","NM_001261463.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14975",69,26,0.38,{"$nulls":3},"A有","12308A","NRDE2","chr14:90752846-90752846","IVS11-10:缺失A","非编码区","rs113463686",0.17,0.23,0.21,0.24,0.028,0.22,"杂合","无关","内含子突变",{"$nulls":4},5,null,4,0,"NRDE2",1,110,"非编码区",2500,"0.35=29/82",null,55051,"14q32.11","NM_017970.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12341",146,145,0.99,{"$nulls":3},"A有","12308A","NRP1","chr10:33510663","c.1266G>A(E8)","p.422,Y>Y","rs2229935",0.36,0.67,0.65,0.68,0.63,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"NRP1",0.97,170,"同义",13203,"1.00=239/240",null,8829,"10p12","NM_001024628.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2841",67,30,0.45,{"$nulls":3},"A有","12308A","NSFL1C","chr20:1426393","c.874C>T(E9)","p.292,D>N","rs9575",0.47,0.82,0.81,0.83,0.77,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NSFL1C",0.9,130,"错义",12210,"0.44=49/111",null,55968,"20p13","NM_001206736.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1229",58,30,0.52,{"$nulls":3},"A有","12308A","NTN4","chr12:96180976","c.326G>A(E2)","p.109,A>V",{"$nulls":6},1.2E-4,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"NTN4",1,110,"错义",12410,"0.51=39/77",null,59277,"12q22","NM_021229.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16640",12,12,1,{"$nulls":3},"A有","12308A","NUCB1","chr19:49425772","m.1811T>C(E13)","非编码区","rs1532704",0.96,0.95,0.96,0.94,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NUCB1",1,55,"非编码区",14200,"1.00=15/15",null,4924,"19q13.33","NM_006184.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15436",49,22,0.45,{"$nulls":3},"A有","12308A","NUMA1","chr11:71714528","m.6565T>G(E27)","非编码区","rs949323",0.87,0.83,0.83,0.83,0.81,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NUMA1",0.99,41,"非编码区",14200,"0.39=31/79",null,4926,"11q13","NM_006185.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1243",46,44,0.96,{"$nulls":3},"A有","12308A","NUP85","chr17:73230856","c.1740C>T(E17)","p.580,D>D","rs9988",0.88,0.94,0.94,0.94,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NUP85",1,120,"同义",13203,"0.97=77/79",null,79902,"17q25.1","NM_024844.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13960",8,8,1,{"$nulls":3},"A有","12308A","NXPH4","chr12:57619362","c.759G>A(E2)","p.253,P>P","rs10783816",0.35,0.49,0.49,0.48,0.41,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NXPH4",0.82,6.6,"同义",13203,"1.00=14/14",null,11247,"12q13.3","NM_007224.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29147",30,13,0.43,{"$nulls":3},"A有","12308A","OBSCN","chr1:228476367","c.10117A>T(E38)","p.3373,S>C","rs3795790",0.096,0.36,0.37,0.34,0.31,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,30,0,"OBSCN",0.94,22,"错义",12220,"0.34=19/56",null,84033,"1q42.13","NM_001098623.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29137",4,3,0.75,{"$nulls":3},"A有","12308A","OBSCN","chr1:228505204","c.13601G>A(E52)","p.4534,R>H","rs4653942",0.32,0.51,0.53,0.5,0.42,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,30,0,"OBSCN",0.94,22,"错义",12210,"0.80=4/5",null,84033,"1q42.13","NM_001098623.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21477",185,185,1,{"$nulls":3},"A有","12308A","ODF2L","chr1:86818572","c.1863T>C(E17)","p.621,E>E","rs272496",0.74,0.86,0.86,0.85,0.79,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ODF2L",0.93,250,"同义",13203,"1.00=320/320",null,57489,"1p22.3","NM_001007022.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2009",135,65,0.48,{"$nulls":3},"A有","12308A","OGFRL1","chr6:72006512","c.684T>C(E6)","p.228,H>H","rs2273888",0.22,0.27,0.3,0.25,0.22,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OGFRL1",0.83,160,"同义",13203,"0.48=120/250",null,79627,"6q13","NM_024576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14898",75,74,0.99,{"$nulls":3},"A有","12308A","OPRM1","chr6:154414446","c.1206A>T(E4)","p.402,Q>H","rs540825",0.88,0.96,0.96,0.95,0.94,0.94,"纯合","无关","有rs号，MAF>=5%","15558714;19053977;19103668;20194481",{"$nulls":3},5,null,5,0,"OPRM1",1,130,"错义",12220,"0.99=132/133",null,4988,"6q24-q25","NM_001008505.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9671",107,49,0.46,{"$nulls":3},"A有","12308A","OR10A6","chr11:7949860","c.350G>A(E1)","p.117,A>V","rs7928451",0.39,0.48,0.47,0.48,0.47,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR10A6",1,160,"错义",12220,"0.46=81/176",null,390093,"11p15.4","NM_001004461.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3339",95,95,1,{"$nulls":3},"A有","12308A","OR10G4","chr11:123886984","c.703A>G(E1)","p.235,R>G","rs4936880",0.43,0.37,0.4,0.34,0.36,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"OR10G4",1,160,"错义",12210,"1.00=153/153",null,390264,"11q24.1","NM_001004462.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28900",53,53,1,{"$nulls":3},"A有","12308A","OR10J1","chr1:159409533","m.22G>A(E1)","非编码区","rs10908721",0.91,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR10J1",1,96,"非编码区",14200,"1.00=90/90",null,26476,"1q23.2","NM_012351.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24868",195,92,0.47,{"$nulls":3},"A有","12308A","OR13C9","chr9:107380396","c.90T>G(E1)","p.30,L>L","rs36091517",0.23,0.39,0.42,0.36,0.43,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR13C9",1,230,"同义",13203,"0.48=161/338",null,286362,"9q31.1","NM_001001956.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14418",79,36,0.46,{"$nulls":3},"A有","12308A","OR1A1","chr17:3119008","c.94T>C(E1)","p.32,L>L","rs4325604",0.83,0.72,0.72,0.73,0.69,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR1A1",1,120,"同义",13203,"0.45=55/123",null,8383,"17p13.3","NM_014565.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8868",34,34,1,{"$nulls":3},"A有","12308A","OR1I1","chr19:15198292","c.416C>G(E1)","p.139,P>R","rs8104843",0.67,0.61,0.62,0.6,0.56,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"OR1I1",1,110,"错义",12220,"1.00=45/45",null,126370,"19p13.12","NM_001004713.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7430",118,48,0.41,{"$nulls":3},"A有","12308A","OR1S1","chr11:57982763","c.547A>G(E1)","p.183,N>D","rs1993088",{"$nulls":4},0.67,0.79,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,9,0,"OR1S1",1,210,"错义",12320,"0.35=66/188",null,219959,"11q12.1","NM_001004458.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6562",39,39,1,{"$nulls":3},"A有","12308A","OR2B11","chr1:247614693","c.592C>T(E1)","p.198,V>M","rs6695302",0.9,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR2B11",1,93,"错义",12220,"1.00=71/71",null,127623,"1q44","NM_001004492.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30914",56,31,0.55,{"$nulls":3},"A有","12308A","OR2D3","chr11:6942628","c.396A>C(E1)","p.132,A>A","rs11605995",0.41,0.45,0.44,0.46,0.41,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR2D3",1,120,"同义",13203,"0.54=44/82",null,120775,"11p15.4","NM_001004684.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24404",88,34,0.39,{"$nulls":3},"A有","12308A","OR2T1","chr1:248569369","c.74A>G(E1)","p.25,H>R","rs28599722",0.33,0.3,0.33,0.26,0.26,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR2T1",1,110,"错义",12220,"0.35=51/146",null,26696,"1q44","NM_030904.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13790",89,56,0.63,{"$nulls":3},"A有","12308A","OR2T34","chr1:248737348","c.711G>A(E1)","p.237,A>A","rs61833442",0.32,0.25,0.25,0.26,0.32,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR2T34",1,120,"同义",13203,"0.66=101/154",null,127068,"1q44","NM_001001821.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14783",211,55,0.26,{"$nulls":3},"A有","12308A","OR2T8","chr1:248085011","c.692C>G(E1)","p.231,A>G","rs4595394",0.35,0.55,0.49,0.61,0.42,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"OR2T8",1,190,"错义",12220,"0.25=87/345",null,343172,"1q44","NM_001005522.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22888",35,15,0.43,{"$nulls":3},"A有","12308A","OR4C15","chr11:55322211","c.429A>G(E1)","p.143,K>K","rs9804659",0.25,0.38,0.36,0.4,0.33,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR4C15",1,120,"同义",13203,"0.46=24/52",null,81309,"11q11","NM_001001920.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29815",72,30,0.42,{"$nulls":3},"A有","12308A","OR4K1","chr14:20404614","c.789C>A(E1)","p.263,S>R","rs34608158",0.18,0.13,0.13,0.13,0.13,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR4K1",1,100,"错义",12210,"0.43=44/103",null,79544,"14q11.2","NM_001004063.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25888",79,27,0.34,{"$nulls":3},"A有","12308A","OR4X2","chr11:48266736","c.81C>G(E1)","p.27,Y>X","rs7120775",0.17,0.16,0.19,0.13,0.17,0.17,"杂合","无关","理论上这种无义突变会导致蛋白翻译提前终止，高频MAF>=5%",{"$nulls":4},5,null,1,0,"OR4X2",1,88,"截断",15200,"0.35=45/129",null,119764,"11p11.2","NM_001004727.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4323",60,60,1,{"$nulls":3},"A有","12308A","OR51Q1","chr11:5443867","c.437C>T(E1)","p.146,T>I","rs10838092",0.45,0.73,0.75,0.7,0.71,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"OR51Q1",1,110,"错义",12220,"1.00=104/104",null,390061,"11p15.4","NM_001004757.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12095",73,73,1,{"$nulls":3},"A有","12308A","OR52H1","chr11:5566030","c.724A>G(E1)","p.242,C>R","rs1995158",0.89,0.92,0.89,0.94,0.9,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR52H1",1,100,"错义",12220,"1.00=112/112",null,390067,"11p15.4","NM_001005289.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22894",49,22,0.45,{"$nulls":3},"A有","12308A","OR52I2","chr11:4608542","c.500C>T(E1)","p.167,T>M","rs1847632",0.41,0.56,0.54,0.59,0.55,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR52I2",1,150,"错义",12210,"0.45=34/76",null,143502,"11p15.4","NM_001005170.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30018",98,98,1,{"$nulls":3},"A有","12308A","OR5B12","chr11:58207204","c.421A>G(E1)","p.141,C>R","rs4938895",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR5B12",1,140,"错义",12220,"1.00=147/147",null,390191,"11q12.1","NM_001004733.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29227",152,61,0.4,{"$nulls":3},"A有","12308A","OR5H6","chr3:97983374","c.246A>G(E1)","p.82,L>L","rs4857358",0.29,0.51,0.53,0.49,0.51,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"OR5H6",1,180,"同义",13203,"0.38=103/268",null,79295,"3q12.1","NM_001005479.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1707",140,66,0.47,{"$nulls":3},"A有","12308A","OR5W2","chr11:55681865","c.194T>C(E1)","p.65,H>R","rs12419022",0.1,0.17,0.2,0.13,0.17,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR5W2",1,160,"错义",12210,"0.49=113/229",null,390148,"11q11","NM_001001960.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27050",54,18,0.33,{"$nulls":3},"A有","12308A","OR6N1","chr1:158736215","c.258G>A(E1)","p.86,L>L","rs6666753",0.81,0.93,0.92,0.93,0.9,0.92,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR6N1",1,95,"同义",13203,"0.34=23/67",null,128372,"1q23.1","NM_001005185.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12227",167,79,0.47,{"$nulls":3},"A有","12308A","OR8B2","chr11:124252422","c.818G>A(E1)","p.273,S>F","rs503220",0.36,0.27,0.29,0.25,0.26,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"OR8B2",1,220,"错义",12210,"0.49=137/278",null,26595,"11q24.1","NM_001005468.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24698",32,8,0.25,{"$nulls":3},"A有","12308A","OR8G2","chr11:124096247","c.850G>A(E1)","p.284,G>R","rs2466613",{"$nulls":4},0.34,0.4,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"OR8G2",1,120,"错义",12310,"0.21=10/48",null,26492,"11q24.2","NM_001007249.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v363",148,72,0.49,{"$nulls":3},"A有","12308A","OR8J3","chr11:55904382","c.813A>C(E1)","p.271,D>E","rs17150102",0.1,0.17,0.21,0.13,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR8J3",1,200,"错义",12210,"0.50=130/259",null,81168,"11q12.1","NM_001004064.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v398",100,63,0.63,{"$nulls":3},"A有","12308A","OR9G1","chr11:56468560","c.697T>C(E1)","p.233,Y>H","rs10896516",0.078,0.07,0.081,0.058,0.46,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"OR9G1",1,180,"错义",12220,"0.64=103/161",null,390174,"11q12.1","NM_001005213.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9331",61,61,1,{"$nulls":3},"A有","12308A","OSBPL3","chr7:24903107","IVS8+8C>G","非编码区","rs2285691",0.57,0.75,0.77,0.73,null,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OSBPL3",1,200,"非编码区",16203,"1.00=99/99",null,26031,"7p15","NM_015550.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1004",25,25,1,{"$nulls":3},"A有","12308A","OTOA","chr16:21771908","m.3324A>G(E24)","非编码区","rs74415880",0.39,0.5,0.48,0.51,null,0.18,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传耳聋22型","AR",607039,5,1,2,1,"OTOA",0.98,160,"非编码区",14200,"1.00=35/35",null,146183,"16p12.2|16p12.2","NM_001161683.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8564",119,49,0.41,{"$nulls":3},"A有","12308A","OTUD3","chr1:20233051","c.962A>G(E7)","p.321,N>S","rs2298110",0.032,0.029,0.029,0.029,0.04,0.027,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"OTUD3",0.82,120,"错义",12120,"0.39=71/184",null,23252,"1p36.13","NM_015207.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4685",120,57,0.47,{"$nulls":3},"A有","12308A","OVGP1","chr1:111962256","c.996G>T(E9)","p.332,D>E","rs17027633",0.078,0.16,0.16,0.16,0.15,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OVGP1",1,140,"错义",12210,"0.46=89/193",null,5016,"1p13","NM_002557.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11725",54,20,0.37,{"$nulls":3},"A有","12308A","P2RX7","chr12:121600253","c.463T>C(E5)","p.155,Y>H","rs208294",null,0.39,0.41,0.36,0.34,0.4,"杂合","可能相关","蛋白结构预测结果为有害","19319666;19838818;21335057;21438144;21906809;22623165;22661222;22776862;24934217",{"$nulls":3},2,null,6,0,"P2RX7",1,140,"错义",12310,"0.30=28/92",null,5027,"12q24","NM_002562.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30649",31,31,1,{"$nulls":3},"A有","12308A","PADI2","chr1:17405809","c.1260G>A(E11)","p.420,N>N","rs2057096",0.43,0.43,0.44,0.42,0.43,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"PADI2",1,57,"同义",13203,"0.98=53/54",null,11240,"1p36.13","NM_007365.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7347",122,122,1,{"$nulls":3},"A有","12308A","PAGE5","chrX:55249049","IVS3-5T>C","剪切位点","rs2148982",null,0.64,0.61,0.66,null,0.6,"纯合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,3,0,"PAGE5",1,240,"剪切位点",16301,"1.00=206/206",null,90737,"Xp11.21","NM_001013435.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22610",5,2,0.4,{"$nulls":3},"A有","12308A","PAMR1","chr11:35453719","m.2391C>T(E11)","非编码区","rs7767",0.52,0.74,0.74,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PAMR1",1,110,"非编码区",14200,"0.29=2/7",null,25891,"11p13","NM_001001991.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1149",218,99,0.45,{"$nulls":3},"A有","12308A","PAQR3","chr4:79845007","IVS5+4C>A","剪切位点","rs13108247",0.71,0.68,0.71,0.65,0.68,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PAQR3",1,210,"剪切位点",16202,"0.42=173/410",null,152559,"4q21.21","NM_001040202.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12894",4,4,1,{"$nulls":3},"A有","12308A","PARP14","chr3:122447596","m.5617C>T(E17)","非编码区","rs7648262",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PARP14",1,140,"非编码区",14200,"1.00=5/5",null,54625,"3q21.1","NM_017554.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17658",65,65,1,{"$nulls":3},"A有","12308A","PARVB","chr22:44489868","c.272T>C(E3)","p.91,V>A","rs1983609",0.87,0.97,0.97,0.98,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PARVB",0.91,96,"错义",12220,"1.00=104/104",null,29780,"22q13.2-q13.33","NM_001003828.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21656",125,52,0.42,{"$nulls":3},"A有","12308A","PBOV1","chr6:138539183-138539184","c.350(E1)至c.349(E1):插入G","插入移码","rs397886596",0.16,0.38,0.34,0.42,0.1,0.36,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,3,0,"PBOV1",1,140,"插入移码",2120,"0.40=55/136",null,59351,"6q23.3","NM_021635.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25342",144,65,0.45,{"$nulls":3},"A有","12308A","PCDH15","chr10:55755491","c.2801C>T(E22)","p.934,R>Q","rs2135720",0.32,0.52,0.53,0.5,0.47,0.48,"杂合","无关","有rs号，MAF>=5%",19816713,"常染色体隐性遗传耳聋23型","AR",609533,5,3,8,3,"PCDH15",1,200,"错义",12220,"0.48=128/266",null,65217,"10q21.1","NM_001142763.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4831",65,32,0.49,{"$nulls":3},"A有","12308A","PCDHA2","chr5:140391475","m.4906A>G(E4)","非编码区","rs7701616",0.059,0.067,0.081,0.053,0.079,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PCDHA2",1,79,"非编码区",14200,"0.52=47/91",null,56146,"5q31","NM_018905.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6545",58,29,0.5,{"$nulls":3},"A有","12308A","PCDHB10","chr5:140573439","c.1314G>C(E1)","p.438,T>T","rs610836",0.49,0.56,0.54,0.58,0.51,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PCDHB10",1,110,"同义",13203,"0.42=39/92",null,56126,"5q31","NM_018930.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13179",22,8,0.36,{"$nulls":3},"A有","12308A","PCDHB2","chr5:140476939","m.2703A>G(E1)","非编码区","rs3776101",0.058,0.072,0.081,0.063,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PCDHB2",1,97,"非编码区",14200,"0.37=11/30",null,56133,"5q31","NM_018936.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9976",33,11,0.33,{"$nulls":3},"A有","12308A","PCDHB6","chr5:140530529","c.691G>A(E1)","p.231,V>I","rs3776096",0.27,0.52,0.53,0.52,0.44,0.5,"杂合","无关","有rs号，MAF>=5%",16175505,{"$nulls":3},5,null,2,0,"PCDHB6",0.98,84,"错义",12220,"0.33=15/45",null,56130,"5q31","NM_018939.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13438",34,22,0.65,{"$nulls":3},"A有","12308A","PCDHGA9","chr5:140784055","c.1536T>C(E1)","p.512,G>G","rs3749770",0.31,0.19,0.2,0.18,0.2,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PCDHGA9",1,71,"同义",13203,"0.73=40/55",null,56107,"5q31","NM_018921.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20947",105,45,0.43,{"$nulls":3},"A有","12308A","PCLO","chr7:82435033","c.14904C>T(E21)","p.4968,G>G","rs12668093",0.21,0.28,0.29,0.27,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PCLO",1,120,"同义",13203,"0.45=79/177",null,27445,"7q11.23-q21.3","NM_033026.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6641",94,48,0.51,{"$nulls":3},"A有","12308A","PCM1","chr8:17849147","c.4628C>T(E28)","p.1543,T>I","rs370429",0.11,0.16,0.14,0.17,0.14,0.18,"杂合","无关","有rs号，MAF>=5%",19048012,"乳头状甲状腺癌","AD",188550,5,1,7,1,"PCM1",1,230,"错义",12220,"0.49=87/176",null,5108,"8p22-p21.3","NM_006197.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16782",41,41,1,{"$nulls":3},"A有","12308A","PCSK6","chr15:101887794","m.2359T>C(E14)","非编码区","rs1030",0.74,0.79,0.78,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PCSK6",0.91,87,"非编码区",14200,"1.00=58/58",null,5046,"15q26.3","NM_138323.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v173",59,59,1,{"$nulls":3},"A有","12308A","PDE1C","chr7:31855578","c.1773G>A(E15)","p.591,N>N","rs1860790",0.95,0.93,0.94,0.92,0.94,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PDE1C",0.82,160,"同义",13203,"1.00=91/91",null,5137,"7p14.3","NM_001191056.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18981",102,62,0.61,{"$nulls":3},"A有","12308A","PDE4DIP","chr1:144854528","c.6624A>G(E44)","p.2208,I>I","rs78461771",{"$nulls":4},0.46,0.47,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,62,0,"PDE4DIP",0.98,210,"同义",13303,"0.57=100/175",null,9659,"1q12","NM_001198832.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18990",55,29,0.53,{"$nulls":3},"A有","12308A","PDE4DIP","chr1:144882823","c.3394C>T(E27)","p.1132,A>T","rs1698647",{"$nulls":4},0.49,0.5,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,62,0,"PDE4DIP",0.98,210,"错义",12310,"0.55=42/77",null,9659,"1q12","NM_001198832.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4964",81,28,0.35,{"$nulls":3},"A有","12308A","PDE9A","chr21:44189172","c.1317A>C(E16)","p.439,A>A","rs3087994",null,0.41,0.43,0.39,0.4,0.41,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"PDE9A",1,95,"同义",13303,"0.36=50/137",null,5152,"21q22.3","NM_001001567.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5965",154,154,1,{"$nulls":3},"A有","12308A","PDIA5","chr3:122864436","c.978G>A(E12)","p.326,A>A","rs8739",null,0.81,0.78,0.85,0.8,0.82,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"PDIA5",0.97,150,"同义",13303,"1.00=275/275",null,10954,"3q21.1","NM_006810.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16088",15,6,0.4,{"$nulls":3},"A有","12308A","PDLIM2","chr8:22442661","c.1197A>G(E5)","p.399,A>A","rs2294047",0.58,0.48,0.48,0.49,0.49,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PDLIM2",0.57,15,"同义",13203,"0.36=9/25",null,64236,"8p21.3","NM_021630.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6761",71,71,1,{"$nulls":3},"A有","12308A","PDZRN4","chr12:41946453","IVS5-5T>C","剪切位点","rs285585",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PDZRN4",0.86,99,"剪切位点",16201,"0.99=119/120",null,29951,"12q12","NM_001164595.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8714",55,18,0.33,{"$nulls":3},"A有","12308A","PENK","chr8:57353827-57353827","m.1022(E4):缺失G","非编码区","rs3839874",0.33,0.37,0.41,0.33,0.049,0.35,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"PENK",0.92,94,"非编码区",2420,"0.35=22/63",null,5179,"8q23-q24","NM_001135690.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17974",5,3,0.6,{"$nulls":3},"A有","12308A","PES1","chr22:30973025","m.1867G>A(E15)","非编码区","rs2301954",0.074,0.19,0.2,0.19,0.13,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PES1",1,84,"非编码区",14200,"0.57=4/7",null,23481,"22q12.1","NM_001243225.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26681",37,37,1,{"$nulls":3},"A有","12308A","PF4V1","chr4:74719925","m.468G>A(E3)","非编码区","rs11723868",0.9,0.99,0.98,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PF4V1",1,69,"非编码区",14200,"1.00=50/50",null,5197,"4q12-q21","NM_002620.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10703",38,26,0.68,{"$nulls":3},"A有","12308A","PHACTR2","chr6:144081768","c.685C>A(E5)","p.229,R>R","rs2073215",0.22,0.42,0.4,0.45,0.32,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PHACTR2",1,190,"同义",13203,"0.65=35/54",null,9749,"6q24.2","NM_001100164.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19781",13,13,1,{"$nulls":3},"A有","12308A","PHF11","chr13:50102992","m.1524T>C(E10)","非编码区","rs3033",0.42,0.45,0.45,0.45,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IgE反应,遗传性过敏症","AD",147050,5,1,3,2,"PHF11",0.91,250,"非编码区",14200,"1.00=15/15",null,51131,"13q14.2","NM_001040443.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11873",130,130,1,{"$nulls":3},"A有","12308A","PHLDB2","chr3:111658486","IVS7+9T>G","非编码区","rs712510",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PHLDB2",1,180,"非编码区",16203,"1.00=200/200",null,90102,"3q13.2","NM_001134437.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24679",165,74,0.45,{"$nulls":3},"A有","12308A","PICALM","chr11:85725937","c.522C>T(E5)","p.174,Q>Q","rs592297",0.79,0.65,0.69,0.6,0.65,0.69,"杂合","无关","有rs号，MAF>=5%","19734902;22943764;24618820","急性髓性白血病","AD",601626,5,1,2,1,"PICALM",1,300,"同义",13203,"0.47=138/292",null,8301,"11q14","NM_001008660.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24936",37,37,1,{"$nulls":3},"A有","12308A","PIEZO2","chr18:10752666","c.4060C>T(E26)","p.1354,V>I","rs7234309",0.33,0.46,0.45,0.48,0.48,0.47,"纯合","无关","有rs号，MAF>=5%",null,"远端关节弯曲5型","AD",108145,5,1,8,3,"PIEZO2",1,180,"错义",12220,"1.00=52/52",null,63895,"18p11.22","NM_022068.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27329",95,94,0.99,{"$nulls":3},"A有","12308A","PIGC","chr1:172411496","c.267A>G(E2)","p.89,G>G","rs2230471",0.92,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",18389087,{"$nulls":3},5,null,2,0,"PIGC",1,110,"同义",13203,"0.99=152/153",null,5279,"1q23-q25","NM_002642.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2122",57,56,0.98,{"$nulls":3},"A有","12308A","PIK3C2B","chr1:204438334","c.597C>T(E3)","p.199,P>P","rs1124777",0.73,0.79,0.8,0.78,0.74,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PIK3C2B",1,85,"同义",13203,"0.99=85/86",null,5287,"1q32","NM_002646.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2123",64,63,0.98,{"$nulls":3},"A有","12308A","PIK3C2B","chr1:204438643","c.288G>T(E3)","p.96,L>L","rs1553921",0.73,0.79,0.8,0.78,0.74,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PIK3C2B",1,85,"同义",13203,"0.99=102/103",null,5287,"1q32","NM_002646.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6417",244,127,0.52,{"$nulls":3},"A有","12308A","PION","chr7:76991935","c.914C>T(E13)","p.305,G>E","rs1527263",0.3,0.075,0.086,0.063,0.08,0.076,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PION",0.96,260,"错义",12220,"0.53=248/464",null,54103,"7q11.23","NM_017439.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28825",81,81,1,{"$nulls":3},"A有","12308A","PIP5K1A","chr1:151209063","c.933C>T(E8)","p.311,Y>Y","rs12407426",0.64,0.6,0.57,0.63,0.62,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PIP5K1A",1,180,"同义",13203,"1.00=134/134",null,8394,"1q21.3","NM_001135636.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16449",142,66,0.46,{"$nulls":3},"A有","12308A","PIWIL3","chr22:25119210","c.2271A>C(E19)","p.757,A>A","rs56199175",0.08,0.091,0.081,0.1,0.1,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PIWIL3",1,250,"同义",13203,"0.48=120/249",null,440822,"22q11.23","NM_001008496.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4945",32,11,0.34,{"$nulls":3},"A有","12308A","PKD1L2","chr16:81199520","c.3142T>C(E19)","p.1048,T>A","rs12931217",0.71,0.67,0.66,0.69,0.62,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,43,0,"PKD1L2",1,78,"错义",12220,"0.32=17/53",null,114780,"16q23.2","NM_052892.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4956",82,34,0.41,{"$nulls":3},"A有","12308A","PKD1L2","chr16:81253745","c.231C>G(E1)","p.77,K>N","rs9934272",0.31,0.43,0.44,0.42,0.37,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,43,0,"PKD1L2",1,78,"错义",12210,"0.36=51/140",null,114780,"16q23.2","NM_001076780.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18796",169,89,0.53,{"$nulls":3},"A有","12308A","PKHD1L1","chr8:110437384","c.2768A>G(E24)","p.923,H>R","rs4735133",0.61,0.43,0.45,0.41,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,19,0,"PKHD1L1",1,250,"错义",12220,"0.54=163/301",null,93035,"8q23","NM_177531.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5009",25,13,0.52,{"$nulls":3},"A有","12308A","PLA1A","chr3:119331892","c.543C>G(E5)","p.181,T>T","rs2272269",0.31,0.49,0.48,0.51,0.41,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PLA1A",1,130,"同义",13203,"0.50=20/40",null,51365,"3q13.13-q13.2","NM_001206960.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26608",153,153,1,{"$nulls":3},"A有","12308A","PLA2G7","chr6:46672943","c.1136A>G(E11)","p.379,V>A","rs1051931",0.81,0.89,0.91,0.87,0.84,0.88,"纯合","无关","有rs号，MAF>=5%","18204052;18426996;19135199;20442857;20479152;21834908;23404648;24732951","IgE反应,遗传性过敏症","AD",147050,5,1,2,3,"PLA2G7",1,320,"错义",12220,"1.00=274/274",null,7941,"6p21.2-p12","NM_001168357.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1511",133,68,0.51,{"$nulls":3},"A有","12308A","PLAC8L1","chr5:145483844","c.31A>T(E1)","p.11,C>S","rs12187913",0.18,0.19,0.15,0.23,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PLAC8L1",1,180,"错义",12220,"0.50=106/210",null,153770,"5q32","NM_001029869.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6184",59,30,0.51,{"$nulls":3},"A有","12308A","PLCG2","chr16:81929488","c.1149C>T(E13)","p.383,D>D","rs1143688",0.41,0.71,0.67,0.74,0.66,0.71,"杂合","无关","有rs号，MAF>=5%",null,"（炎症？）和PLCG2相关抗体缺乏与免疫失调","AD",614878,5,1,6,2,"PLCG2",1,130,"同义",13203,"0.50=58/116",null,5336,"16q24.1","NM_002661.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18694",57,56,0.98,{"$nulls":3},"A有","12308A","PLEKHG5","chr1:6579607","m.515C>T(E1)","非编码区","rs1556035",0.75,0.8,0.79,0.81,0.69,0.8,"纯合","无关","有rs号，MAF>=5%",null,"远端脊髓肌萎缩症4型","AR",611067,5,1,2,2,"PLEKHG5",0.93,21,"非编码区",14200,"0.99=92/93",null,57449,"1p36.31","NM_198681.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2587",6,2,0.33,{"$nulls":3},"A有","12308A","PLEKHH1","chr14:68041124","IVS14+4G>C","剪切位点","rs1555400",0.53,0.47,0.44,0.5,null,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PLEKHH1",1,77,"剪切位点",16202,"0.33=2/6",null,57475,"14q24.1","NM_020715.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20173",65,36,0.55,{"$nulls":3},"A有","12308A","PLIN4","chr19:4511830","c.2100A>G(E3)","p.700,T>T","rs7257142",{"$nulls":4},0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,26,0,"PLIN4",0.98,54,"同义",13303,"0.49=49/101",null,729359,"19p13.3","NM_001080400.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29958",71,71,1,{"$nulls":3},"A有","12308A","PLK2","chr5:57750350","m.2256C>G(E15)","非编码区","rs15009",0.45,0.6,0.55,0.65,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PLK2",1,170,"非编码区",14200,"1.00=94/94",null,10769,"5q12.1-q13.2","NM_001252226.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18006",43,43,1,{"$nulls":3},"A有","12308A","PLXNA4","chr7:131815310","c.5613A>G(E32)","p.1871,D>D","rs2671103",0.9,0.94,0.93,0.95,0.96,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PLXNA4",1,77,"同义",13203,"1.00=73/73",null,91584,"7q32.3","NM_020911.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31382",37,37,1,{"$nulls":3},"A有","12308A","PMEPA1","chr20:56285540","m.131T>C(E1)","非编码区","rs2273534",0.23,0.5,0.53,0.47,0.51,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PMEPA1",1,11,"非编码区",14200,"1.00=78/78",null,56937,"20q13.31-q13.33","NM_199169.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30473",35,13,0.37,{"$nulls":3},"A有","12308A","PNMAL1","chr19:46974233","c.60G>A(E2)","p.20,D>D","rs3826851",0.21,0.17,0.17,0.18,0.12,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PNMAL1",1,40,"同义",13203,"0.40=26/65",null,55228,"19q13.32","NM_001103149.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11430",6,6,1,{"$nulls":3},"A有","12308A","PNPLA7","chr9:140356422","c.3717G>C(E32)","p.1239,L>L","rs28452008",0.49,0.81,0.81,0.82,0.62,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PNPLA7",0.98,31,"同义",13203,"1.00=7/7",null,375775,"9q34.3","NM_001098537.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18967",126,61,0.48,{"$nulls":3},"A有","12308A","POLH","chr6:43550160","c.104C>T(E2)","p.35,A>V","rs569809153",0.0002,0,0,0,0.0026,0.0029,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"着色性干皮病,变异型","AR",278750,3,3,2,1,"POLH",1,200,"错义",12120,"0.46=101/220",null,5429,"6p21.1","NM_006502.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24356",47,47,1,{"$nulls":3},"A有","12308A","POLR1E","chr9:37503124","c.1185G>A(E12)","p.395,K>K","rs7047823",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"POLR1E",1,160,"同义",13203,"1.00=83/83",null,64425,"9p13.2","NM_022490.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18148",2,2,1,{"$nulls":3},"A有","12308A","POLR3A","chr10:79736964","m.4578C>G(E31)","非编码区","rs2241547",0.33,0.5,0.51,0.5,null,null,"纯合","无关","有rs号，MAF>=5%",null,"脑白质营养不良伴或不伴缺牙和/或促性腺激素分泌不足的性腺功能低下症7型","AR",607694,5,1,1,1,"POLR3A",1,160,"非编码区",14200,"1.00=2/2",null,11128,"10q22-q23","NM_007055.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7734",7,2,0.29,{"$nulls":3},"A有","12308A","POM121","chr7:72419600","m.4632G>A(E16)","非编码区","rs577357065",0.0002,0.0024,0,0.0049,null,1.2E-4,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"POM121",1,130,"非编码区",14100,"0.25=2/8",null,9883,"7q11.23","NM_001257190.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23399",175,86,0.49,{"$nulls":3},"A有","12308A","PON2","chr7:95034775","c.932G>C(E9)","p.311,S>C","rs7493",0.28,0.19,0.2,0.18,0.16,0.19,"杂合","无关","有rs号，MAF>=5%","17601350;18513389;19104460;19131662;19321847;19379518;19546579;19587357;20056567;20381198;20565774;21223581;21231776;22016051;22877234;22884547;23327886;24100645;24895604",{"$nulls":3},5,null,2,0,"PON2",0.93,260,"错义",12210,"0.49=148/301",null,5445,"7q21.3","NM_000305.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10421",7,5,0.71,{"$nulls":3},"A有","12308A","POTEF","chr2:130831509","m.3936G>A(E17)","非编码区","rs146466901",0.51,0.6,0.59,0.6,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"POTEF",1,270,"非编码区",14200,"0.78=7/9",null,728378,"2q21.1","NM_001099771.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12476",38,38,1,{"$nulls":3},"A有","12308A","POU1F1","chr3:87308905","m.1140A>T(E6)","非编码区","rs4988463",0.18,0.22,0.23,0.2,null,null,"纯合","无关","有rs号，MAF>=5%",null,"垂体激素缺乏症1型","AD,AR",613038,5,1,2,1,"POU1F1",1,220,"非编码区",14200,"1.00=42/42",null,5449,"3p11","NM_000306.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7484",7,3,0.43,{"$nulls":3},"A有","12308A","PPFIA4","chr1:203024767","c.519C>T(E3)","p.173,A>A","rs3736314",0.15,0.14,0.15,0.14,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PPFIA4",1,55,"同义",13203,"0.50=4/8",null,8497,"1q32.1","NM_015053.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7941",377,151,0.4,{"$nulls":3},"A有","12308A","PPIAL4G","chr1:143767833","c.16T>C(E1)","p.6,I>V","rs7521153",{"$nulls":4},0.5,0.00046,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"PPIAL4G",1,340,"错义",12320,"0.34=225/654",null,644591,"1q21.1","NM_001123068.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10383",49,49,1,{"$nulls":3},"A有","12308A","PPP1R14B","chr11:64012225","m.713G>C(E4)","非编码区","rs605187",0.95,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PPP1R14B",0.94,32,"非编码区",14200,"0.99=70/71",null,26472,"11q13","NM_138689.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28994",40,40,1,{"$nulls":3},"A有","12308A","PPP2R2C","chr4:6325086","c.1266G>A(E10)","p.422,I>I","rs3796403",0.65,0.93,0.93,0.92,0.87,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PPP2R2C",0.95,80,"同义",13203,"0.98=59/60",null,5522,"4p16.1","NM_001206994.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7783",222,53,0.24,{"$nulls":3},"A有","12308A","PRAMEF1","chr1:12856153","m.1536G>A(E4)","非编码区","rs61775055",{"$nulls":5},0.48,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"PRAMEF1",1,330,"非编码区",14300,"0.24=90/373",null,65121,"1p36.21","NM_023013.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28330",106,43,0.41,{"$nulls":3},"A有","12308A","PRAMEF17","chr1:13716842","c.329G>A(E2)","p.110,G>E","rs200830320",{"$nulls":4},0.21,0.031,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"PRAMEF17",1,120,"错义",12320,"0.39=71/181",null,391004,"1p36.21","NM_001099851.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18839",95,42,0.44,{"$nulls":3},"A有","12308A","PRAMEF6","chr1:13001186","c.497C>T(E3)","p.166,C>Y","rs200795385",{"$nulls":5},0.57,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"PRAMEF6",1,150,"错义",12320,"0.42=61/146",null,440561,"1p36.21","NM_001010889.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4280",47,47,1,{"$nulls":3},"A有","12308A","PRDM9","chr5:23527919","m.2904A>G(E11)","非编码区","rs2099081",0.93,0.81,0.81,0.81,null,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PRDM9",1,180,"非编码区",14200,"1.00=80/80",null,56979,"5p14","NM_020227.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19439",66,31,0.47,{"$nulls":3},"A有","12308A","PREX1","chr20:47256300","IVS30+4C>T","剪切位点","rs6019339",0.37,0.23,0.24,0.22,null,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PREX1",0.97,59,"剪切位点",16202,"0.47=52/110",null,57580,"20q13.13","NM_020820.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26299",17,9,0.53,{"$nulls":3},"A有","12308A","PRICKLE4","chr6:41754576","c.864C>T(E8)","p.288,L>L","rs9381093",0.56,0.83,0.83,0.83,0.25,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PRICKLE4",1,66,"同义",13203,"0.46=11/24",null,29964,"6p21.31","NM_013397.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27123",9,8,0.89,{"$nulls":3},"A有","12308A","PRM2","chr16:11369534","m.642G>A(E2)","非编码区","rs424908",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PRM2",1,26,"非编码区",14200,"0.91=10/11",null,5620,"16p13.2","NM_002762.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14754",38,19,0.5,{"$nulls":3},"A有","12308A","PROM1","chr4:16020162","c.759C>T(E8)","p.253,A>A","rs2286455",0.14,0.2,0.18,0.21,0.23,0.3,"杂合","无关","有rs号，MAF>=5%",24787949,"斯特格病变4型",null,603786,5,2,2,4,"PROM1",1,220,"剪切位点",13202,"0.49=27/55",null,8842,"4p15.32","NM_001145847.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20994",33,15,0.45,{"$nulls":3},"A有","12308A","PROSER1","chr13:39587865","c.1524A>C(E11)","p.508,S>S","rs3751378",0.22,0.25,0.28,0.23,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PROSER1",1,170,"同义",13203,"0.40=18/45",null,80209,"13q13.3","NM_025138.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18295",28,13,0.46,{"$nulls":3},"A有","12308A","PRPH2","chr6:42689755","c.318A>G(E1)","p.106,V>V","rs7764439",0.58,0.58,0.58,0.58,0.56,0.58,"杂合","无关","有rs号，MAF>=5%",22948568,"成年型卵黄状黄斑营养不良","AD",608161,5,1,6,5,"PRPH2",1,51,"同义",13203,"0.48=20/42",null,5961,"6p21.2-p12.3","NM_000322.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18295",28,13,0.46,{"$nulls":3},"A有","12308A","PRPH2","chr6:42689755","c.318A>G(E1)","p.106,V>V","rs7764439",0.58,0.58,0.58,0.58,0.56,0.58,"杂合","无关","有rs号，MAF>=5%",22948568,"中心性晕轮样脉络膜营养不良","AD",613105,5,1,6,5,"PRPH2",1,51,"同义",13203,"0.48=20/42",null,5961,"6p21.2-p12.3","NM_000322.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23677",12,12,1,{"$nulls":3},"A有","12308A","PRRT2","chr16:29825126","c.751T>C(E2)","p.251,L>L","rs11150573",0.99,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"良性家族性婴儿癫痫/惊厥2型","AD",605751,5,1,1,3,"PRRT2",1,28,"同义",13203,"1.00=20/20",null,112476,"16p11.2","NM_001256442.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23569",13,6,0.46,{"$nulls":3},"A有","12308A","PRSS57","chr19:691909","c.330T>C(E3)","p.110,T>T","rs4375794",0.68,0.6,0.61,0.6,0.57,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRSS57",0.86,7.5,"同义",13203,"0.39=9/23",null,400668,"19p13.3","NM_214710.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21602",93,93,1,{"$nulls":3},"A有","12308A","PRUNE2","chr9:79320095","c.7095T>G(E8)","p.2365,L>F","rs3739524",0.28,0.52,0.48,0.57,0.5,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"PRUNE2",1,120,"错义",12220,"1.00=166/166",null,158471,"9q21.2","NM_015225.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28985",197,197,1,{"$nulls":3},"A有","12308A","PSG5","chr19:43679410","c.921A>G(E4)","p.307,A>A","rs1058467",0.77,0.99,0.99,0.99,0.98,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PSG5",1,340,"同义",13203,"1.00=337/337",null,5673,"19q13.2","NM_001130014.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4820",70,35,0.5,{"$nulls":3},"A有","12308A","PSMC6","chr14:53194419","m.1296T>C(E14)","非编码区","rs6696",0.64,0.66,0.63,0.69,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PSMC6",1,290,"非编码区",14200,"0.52=44/85",null,5706,"14q22.1","NM_002806.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16891",2,2,1,{"$nulls":3},"A有","12308A","PSMF1","chr20:1099329","m.90A>G(E1)","非编码区","rs2072962",0.73,0.44,0.46,0.42,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PSMF1",1,110,"非编码区",14200,"1.00=2/2",null,9491,"20p13","NM_006814.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23156",66,27,0.41,{"$nulls":3},"A有","12308A","PTCHD3","chr10:27692279","c.1219A>G(E3)","p.407,C>R","rs2484180",null,0.18,0.2,0.16,0.16,0.2,"杂合","可能相关","蛋白结构预测结果为有害",16385451,{"$nulls":3},2,null,8,0,"PTCHD3",1,100,"错义",12310,"0.39=45/115",null,374308,"10p12.1","NM_001034842.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31381",4,4,1,{"$nulls":3},"A有","12308A","PTGS1","chr9:125133479","c.22T>C(E2)","p.8,W>R","rs1236913",0.94,1,1,1,0.93,0.99,"纯合","无关","有rs号，MAF>=5%","17301694;17495879;18992148",{"$nulls":3},5,null,1,0,"PTGS1",0.99,83,"错义",12220,"1.00=6/6",null,5742,"9q32-q33.3","NM_000962.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16788",14,14,1,{"$nulls":3},"A有","12308A","PTPN2","chr18:12785557","m.1692C>T(E11)","非编码区","rs2542156",0.96,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PTPN2",0.95,210,"非编码区",14200,"1.00=17/17",null,5771,"18p11.3-p11.2","NM_001207013.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12774",70,69,0.99,{"$nulls":3},"A有","12308A","PTPRB","chr12:71002893","c.935C>T(E4)","p.312,R>K","rs2252784",0.59,0.57,0.54,0.61,0.61,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PTPRB",1,160,"错义",12220,"0.99=112/113",null,5787,"12q15-q21","NM_001109754.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6210",12,8,0.67,{"$nulls":3},"A有","12308A","PTPRN2","chr7:157959636","c.897G>A(E6)","p.299,S>S","rs1130498",0.62,0.81,0.81,0.81,0.74,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PTPRN2",0.96,50,"同义",13203,"0.65=11/17",null,5799,"7q36","NM_002847.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20212",53,25,0.47,{"$nulls":3},"A有","12308A","PTPRZ1","chr7:121513561","c.8T>G(E1)","p.3,I>S","rs740965",0.16,0.31,0.26,0.35,0.33,0.29,"杂合","无关","有rs号，MAF>=5%",null,"易感型幽门螺杆菌感染",null,600263,5,2,4,1,"PTPRZ1",1,200,"错义",12220,"0.47=40/86",null,5803,"7q31.3","NM_001206838.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14223",84,84,1,{"$nulls":3},"A有","12308A","PXDC1","chr6:3727811","c.552C>G(E4)","p.184,Q>H","rs226959",0.65,0.62,0.6,0.64,0.59,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PXDC1",0.95,94,"错义",12220,"1.00=137/137",null,221749,"6p25.2","NM_183373.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27431",151,149,0.99,{"$nulls":3},"A有","12308A","PZP","chr12:9307373","c.3613T>G(E29)","p.1205,T>P","rs2377741",null,1,1,1,1,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"PZP",1,190,"错义",12320,"0.99=247/249",null,5858,"12p13-p12.2","NM_002864.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29292",6,2,0.33,{"$nulls":3},"A有","12308A","RAB36","chr22:23503121","c.873G>A(E10)","p.291,S>S","rs5759611",0.23,0.35,0.39,0.31,0.28,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RAB36",0.96,49,"同义",13203,"0.43=3/7",null,9609,"22q11.22","NM_004914.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18439",5,5,1,{"$nulls":3},"A有","12308A","RAB6A","chr11:73471761","m.441C>A(E1)","非编码区","rs1043234",0.14,0.14,0.095,0.18,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RAB6A",1,290,"非编码区",14200,"1.00=6/6",null,5870,"11q13.3","NM_001243718.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7578",44,44,1,{"$nulls":3},"A有","12308A","RAET1E","chr6:150210681","c.317G>A(E3)","p.106,T>I","rs9371533",0.69,0.9,0.92,0.89,0.89,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"RAET1E",0.98,110,"错义",12220,"0.99=81/82",null,135250,"6q25.1","NM_001243325.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2233",250,99,0.4,{"$nulls":3},"A有","12308A","RAET1L","chr6:150343211","c.254A>G(E2)","p.85,M>T","rs912565",{"$nulls":4},0.47,0.035,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"RAET1L",1,340,"错义",12320,"0.36=152/428",null,154064,"6q25.1","NM_130900.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4406",7,4,0.57,{"$nulls":3},"A有","12308A","RAP1GAP2","chr17:2929674","c.1851T>C(E20)","p.617,R>R","rs12941934",0.58,0.64,0.63,0.65,0.52,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RAP1GAP2",1,82,"同义",13203,"0.50=4/8",null,23108,"17p13.3","NM_001100398.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26650",179,89,0.5,{"$nulls":3},"A有","12308A","RB1","chr13:49051481","IVS25-10T>A","剪切位点","rs3092904",0.19,0.24,0.24,0.23,0.23,0.25,"杂合","无关","有rs号，MAF>=5%",null,"膀胱癌","AD",109800,5,1,1,4,"RB1",0.95,280,"剪切位点",16201,"0.53=183/346",null,5925,"13q14.2","NM_000321.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11574",46,22,0.48,{"$nulls":3},"A有","12308A","RBM15B","chr3:51430657","c.1827A>C(E1)","p.609,S>S","rs3804766",0.15,0.36,0.34,0.38,0.3,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RBM15B",0.74,26,"同义",13203,"0.44=35/79",null,29890,"3p21.2","NM_013286.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11737",130,58,0.45,{"$nulls":3},"A有","12308A","RBM25","chr14:73581011","c.2409A>G(E18)","p.803,S>S","rs362414",0.098,0.2,0.22,0.18,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RBM25",1,230,"同义",13203,"0.45=115/256",null,58517,"14q24.3","NM_021239.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5523",17,7,0.41,{"$nulls":3},"A有","12308A","RCAN3","chr1:24861704","c.491G>A(E3)","p.164,R>Q","rs196432",0.51,0.71,0.73,0.69,0.66,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RCAN3",1,120,"错义",12220,"0.33=11/33",null,11123,"1p35.3-p33","NM_001251982.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7670",6,6,1,{"$nulls":3},"A有","12308A","RECQL4","chr8:145737816","c.3015C>T(E17)","p.1005,A>A","rs4251691",0.38,0.47,0.48,0.46,0.31,0.44,"纯合","无关","有rs号，MAF>=5%",24728327,"Baller-Gerold综合症","AR",218600,5,1,6,3,"RECQL4",0.93,14,"同义",13203,"1.00=8/8",null,9401,"8q24.3","NM_004260.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26682",103,103,1,{"$nulls":3},"A有","12308A","REG1A","chr2:79350347","m.610A>G(E6)","非编码区","rs12228",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"REG1A",1,130,"非编码区",14200,"1.00=178/178",null,5967,"2p12","NM_002909.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20825",32,12,0.38,{"$nulls":3},"A有","12308A","RET","chr10:43595968","c.135A>G(E2)","p.45,A>A","rs1800858",0.75,0.52,0.53,0.51,0.53,0.55,"杂合","无关","有疾病相关报道，MAF>=5%","15759212;17267408;18091754;19138047;20454948;20532249;21349203;24897126;10521317;10922382;","噬铬细胞瘤","AD",171300,5,1,6,7,"RET",0.95,60,"同义",11200,"0.39=23/59",null,5979,"10q11.2","NM_020630.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20826",28,11,0.39,{"$nulls":3},"A有","12308A","RET","chr10:43623812","m.3630C>T(E20)","非编码区","rs17028",0.14,0.23,0.22,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",null,"多发性内分泌肿瘤2A型","AD",171400,5,1,6,7,"RET",0.95,60,"非编码区",14200,"0.43=15/35",null,5979,"10q11.2","NM_020975.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v326",111,50,0.45,{"$nulls":3},"A有","12308A","RFPL2","chr22:32587023","c.873C>G(E5)","p.291,T>T","rs55974778",0.48,0.13,0.13,0.13,0.12,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"RFPL2",1,160,"同义",13203,"0.41=75/181",null,10739,"22q12.3","NM_001098527.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11062",41,27,0.66,{"$nulls":3},"A有","12308A","RFX6","chr6:117252759","m.2940T>G(E19)","非编码区","rs630695",0.34,0.43,0.45,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",null,"MITCHELL-RILEY综合征","AR",615710,5,3,6,1,"RFX6",1,210,"非编码区",14200,"0.65=30/46",null,222546,"6q22.1","NM_173560.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18575",12,7,0.58,{"$nulls":3},"A有","12308A","RGS11","chr16:319511","c.1217A>G(E16)","p.406,M>T","rs739999",0.31,0.35,0.34,0.37,0.26,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RGS11",0.76,17,"错义",12220,"0.50=10/20",null,8786,"16p13.3","NM_003834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20237",20,9,0.45,{"$nulls":3},"A有","12308A","RGS3","chr9:116346287","c.558C>T(E3)","p.186,Y>Y","rs3810927",0.17,0.22,0.25,0.18,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RGS3",0.99,67,"同义",13203,"0.41=11/27",null,5998,"9q32","NM_021106.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1830",22,14,0.64,{"$nulls":3},"A有","12308A","RHO","chr3:129247551","m.70A>G(E1)","非编码区","rs7984",0.53,0.63,0.67,0.59,0.5,0.63,"杂合","无关","有rs号，MAF>=5%",null,"显性遗传先天性静止性夜盲症1型",null,610445,5,2,2,3,"RHO",1,86,"非编码区",14200,"0.61=19/31",null,6010,"3q21-q24","NM_000539.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25482",3,3,1,{"$nulls":3},"A有","12308A","RIMS1","chr6:72922550","m.37C>T(E1)","非编码区","rs2496534",0.6,0.82,0.85,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良7型",null,603649,5,1,3,1,"RIMS1",0.94,190,"非编码区",14200,"1.00=3/3",null,22999,"6q12-q13","NM_001168407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4030",4,4,1,{"$nulls":3},"A有","12308A","RLBP1","chr15:89753349","m.1501A>C(E9)","非编码区","rs834",0.92,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Bothnia视网膜营养不良","AR",607475,5,1,1,3,"RLBP1",1,68,"非编码区",14200,"1.00=5/5",null,6017,"15q26","NM_000326.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18152",62,62,1,{"$nulls":3},"A有","12308A","RMND5A","chr2:86979093","c.360G>A(E3)","p.120,E>E","rs10186663",0.69,0.91,0.91,0.9,0.9,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RMND5A",1,230,"同义",13203,"0.99=120/121",null,64795,"2p11.2","NM_022780.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19227",93,40,0.43,{"$nulls":3},"A有","12308A","RNF10","chr12:121002977","c.1768C>T(E11)","p.590,L>L","rs147370516",1.4E-3,0,0,0,null,0.0032,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RNF10",1,130,"同义",13103,"0.41=66/162",null,9921,"12q24.31","NM_014868.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22029",44,44,1,{"$nulls":3},"A有","12308A","RNF213","chr17:78305871","c.3583G>A(E21)","p.1195,V>M","rs10782008",0.49,0.41,0.39,0.44,0.34,0.47,"纯合","无关","有rs号，MAF>=5%",null,"烟雾病2型/毛毛样脑血管病2型",null,607151,5,1,18,1,"RNF213",1,92,"错义",12220,"1.00=74/74",null,57674,"17q25.3","NM_001256071.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10377",121,44,0.36,{"$nulls":3},"A有","12308A","RNF216","chr7:5770400","c.1170G>A(E6)","p.390,D>D","rs111942365",0.14,0.06,0.043,0.078,0.051,0.067,"杂合","无关","有rs号，MAF>=5%",null,"戈登・霍尔姆斯综合症(GDHS)，小脑性共济失调和促性腺激素分泌不足性腺功能低下症 ","AR",212840,5,3,3,1,"RNF216",1,130,"同义",13203,"0.36=66/181",null,54476,"7p22.1","NM_207111.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9799",111,58,0.52,{"$nulls":3},"A有","12308A","RNPC3","chr1:104076462","c.342C>T(E3)","p.114,G>G","rs6697444",0.6,0.36,0.34,0.38,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RNPC3",1,290,"同义",13203,"0.53=96/180",null,55599,"1p21","NM_017619.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23351",42,42,1,{"$nulls":3},"A有","12308A","RP1L1","chr8:10465748","c.5860T>C(E4)","p.1954,T>A","rs11783478",0.65,0.99,1,0.99,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",null,"隐匿性黄斑营养不良","AD",613587,5,1,16,1,"RP1L1",0.97,40,"错义",12220,"1.00=61/61",null,94137,"8p23.1","NM_178857.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30341",32,32,1,{"$nulls":3},"A有","12308A","RPAIN","chr17:5336210","m.1549T>C(E7)","非编码区","rs1050461",0.4,0.79,0.79,0.79,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"RPAIN",1,150,"非编码区",14200,"1.00=36/36",null,84268,"17p13.2","NM_001033002.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29238",31,14,0.45,{"$nulls":3},"A有","12308A","RPH3AL","chr17:177329","c.6G>C(E2)","p.2,A>A","rs80083441",0.011,0.055,0.057,0.053,0.078,0.072,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RPH3AL",1,29,"同义",13103,"0.47=21/45",null,9501,"17p13.3","NM_001190411.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3407",70,70,1,{"$nulls":3},"A有","12308A","RPL31","chr2:101635538","m.512C>T(E5)","非编码区","rs13007048",0.23,0.15,0.16,0.15,null,0.15,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RPL31",1,160,"非编码区",14200,"1.00=120/120",null,6160,"2q11.2","NM_001098577.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15340",191,100,0.52,{"$nulls":3},"A有","12308A","RPUSD4","chr11:126074192","c.735A>G(E6)","p.245,S>S","rs2276312",0.26,0.67,0.68,0.66,0.67,0.65,"杂合","无关","有rs号，MAF>=5%",16251468,{"$nulls":3},5,null,3,0,"RPUSD4",1,100,"同义",13203,"0.53=174/328",null,84881,"11q24.2","NM_001144827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26225",25,25,1,{"$nulls":3},"A有","12308A","RRP1","chr21:45217929","c.759T>C(E8)","p.253,G>G","rs2838379",0.4,0.32,0.29,0.34,0.27,0.29,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RRP1",1,50,"同义",13203,"0.98=42/43",null,8568,"21q22.3","NM_003683.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28990",26,25,0.96,{"$nulls":3},"A有","12308A","RSAD1","chr17:48557326","c.355G>A(E3)","p.119,A>T","rs2290862",0.58,0.21,0.21,0.21,0.23,0.21,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RSAD1",0.9,38,"错义",12220,"0.98=40/41",null,55316,"17q21.33","NM_018346.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18289",92,46,0.5,{"$nulls":3},"A有","12308A","RTN2","chr19:45998381","c.51T>C(E2)","p.17,T>T","rs117156117",0.026,0.075,0.052,0.097,0.07,0.053,"杂合","未知","预测范围之外的同义突变",null,"遗传性痉挛性截瘫12型","AD",604805,4,1,1,1,"RTN2",1,49,"同义",13103,"0.51=86/167",null,6253,"19q13.32","NM_005619.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14010",91,91,1,{"$nulls":3},"A有","12308A","RXRG","chr1:165376043","IVS10+6T>C","剪切位点","rs283696",0.87,0.9,0.91,0.89,null,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RXRG",1,140,"剪切位点",16202,"1.00=168/168",null,6258,"1q22-q23","NM_001256570.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14716",115,114,0.99,{"$nulls":3},"A有","12308A","RYR2","chr1:237801770","c.6906T>C(E45)","p.2302,L>L","rs707189",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null,"致心律失常性右室发育不良2","AD",600996,5,1,9,2,"RYR2",1,200,"同义",13203,"0.98=184/187",null,6262,"1q43","NM_001035.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27634",47,28,0.6,{"$nulls":3},"A有","12308A","RYR3","chr15:34014913","IVS43-3C>T","剪切位点","rs2293028",0.41,0.57,0.56,0.59,null,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"RYR3",1,160,"剪切位点",16202,"0.58=42/73",null,6263,"15q14-q15","NM_001036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19",36,11,0.31,{"$nulls":3},"A有","12308A","SAMD4A","chr14:55255673","m.2209C>T(E11)","非编码区","rs11431",0.58,0.61,0.63,0.58,0.54,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SAMD4A",1,120,"非编码区",14200,"0.33=22/66",null,23034,"14q22.2","NM_001161576.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10830",6,4,0.67,{"$nulls":3},"A有","12308A","SART1","chr11:65746653","m.2647A>G(E20)","非编码区","rs679581",0.41,0.5,0.5,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SART1",1,39,"非编码区",14200,"0.67=4/6",null,9092,"11q13.1","NM_005146.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11568",22,21,0.95,{"$nulls":3},"A有","12308A","SBSN","chr19:36017928","c.1256G>C(E1)","p.419,A>G","rs10775583",0.42,0.67,0.7,0.64,0.64,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SBSN",1,72,"错义",12220,"0.96=26/27",null,374897,"19q13.13","NM_001166034.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16329",29,4,0.14,{"$nulls":3},"A有","12308A","SCGB1C1","chr11:193146","c.47G>A(E1)","p.16,C>Y","rs61736219",{"$nulls":4},0.068,0.13,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"SCGB1C1",1,84,"错义",12310,"0.11=4/37",null,147199,"11p15.5","NM_145651.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24848",168,168,1,{"$nulls":3},"A有","12308A","SCN1A","chr2:166892788","c.3199C>T(E16)","p.1067,A>T","rs2298771",0.79,0.88,0.9,0.87,0.88,0.9,"纯合","无关","有rs号，MAF>=5%","17676998;19694741;21881118;22591328;24337656","家族性偏瘫性偏头痛3型","AD",609634,5,1,3,3,"SCN1A",1,250,"错义",12220,"1.00=295/296",null,6323,"2q24.3","NM_001165963.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10762",41,41,1,{"$nulls":3},"A有","12308A","SCN1B","chr19:35524944","c.749G>C(E3)","p.250,R>T","rs67486287",0.12,0.16,0.17,0.15,0.2,0.21,"纯合","无关","有rs号，MAF>=5%",null,"家族性房颤13型","AD",615377,5,1,5,3,"SCN1B",0.96,43,"错义",12220,"1.00=66/66",null,6324,"19q13.1","NM_199037.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4653",5,5,1,{"$nulls":3},"A有","12308A","SCN4A","chr17:62041068","c.1570T>C(E10)","p.524,S>G","rs6504191",0.94,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",null,"低血钾性周期性麻痹2型","AD",613345,5,1,3,5,"SCN4A",1,60,"错义",12220,"1.00=8/8",null,6329,"17q23.3","NM_000334.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15781",16,16,1,{"$nulls":3},"A有","12308A","SCN5A","chr3:38674712","c.87T>C(E2)","p.29,A>A","rs6599230",0.78,0.7,0.7,0.71,0.63,0.69,"纯合","无关","有rs号，MAF>=5%",18368697,"病态窦房结综合征1型","AR",608567,5,1,3,8,"SCN5A",0.99,80,"同义",13203,"1.00=22/22",null,6331,"3p21","NM_000335.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7930",101,44,0.44,{"$nulls":3},"A有","12308A","SCN9A","chr2:167145142","c.1119A>G(E10)","p.373,A>A","rs13414203",0.35,0.24,0.22,0.26,0.25,0.32,"杂合","无关","有rs号，MAF>=5%",null,"家族性直肠疼痛","AD",167400,5,1,8,5,"SCN9A",1,250,"同义",13203,"0.40=59/146",null,6335,"2q24","NM_002977.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8586",32,13,0.41,{"$nulls":3},"A有","12308A","SCP2","chr1:53459461","m.1649G>A(E11)","非编码区","rs6657017",0.21,0.37,0.39,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",null,"白质脑病伴肌张力障碍和运动性神经病变/硫解酶缺陷症",null,613724,5,2,3,1,"SCP2",1,260,"非编码区",14200,"0.40=16/40",null,6342,"1p32","NM_001007098.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30778",63,17,0.27,{"$nulls":3},"A有","12308A","SDHC","chr1:161332346","m.499C>G(E5)","非编码区","rs140761234",0.13,0.18,0.17,0.19,null,0.21,"杂合","无关","有rs号，MAF>=5%",null,"副神经节瘤合并胃恶性间质瘤",null,606864,5,2,2,3,"SDHC",1,250,"非编码区",14200,"0.26=27/103",null,6391,"1q23.3","NM_001035511.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21062",58,26,0.45,{"$nulls":3},"A有","12308A","SEC14L3","chr22:30864610","c.77A>G(E7)","p.26,I>T","rs4820853",0.45,0.46,0.4,0.51,0.45,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SEC14L3",1,120,"错义",12210,"0.42=46/109",null,266629,"22q12.2","NM_001257378.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2349",127,127,1,{"$nulls":3},"A有","12308A","SEC22C","chr3:42610374","c.165A>G(E2)","p.55,G>G","rs2271186",0.54,0.6,0.62,0.59,0.58,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SEC22C",1,230,"同义",13203,"1.00=199/199",null,9117,"3p22.1","NM_001201572.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13652",9,9,1,{"$nulls":3},"A有","12308A","SEMA4B","chr15:90771750","c.2389T>G(E15)","p.797,S>A","rs3751655",0.79,0.75,0.81,0.69,0.7,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SEMA4B",0.94,39,"错义",12220,"1.00=16/16",null,10509,"15q25","NM_020210.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22357",107,48,0.45,{"$nulls":3},"A有","12308A","SEPSECS","chr4:25125703","c.1356C>G(E11)","p.452,K>N","rs2302566",0.11,0.1,0.11,0.097,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",null,"桥脑小脑发育不全2D型/进行性小脑-大脑萎缩","AR",613811,5,3,1,1,"SEPSECS",0.94,260,"错义",12220,"0.46=75/163",null,51091,"4p15.2","NM_016955.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3614",34,34,1,{"$nulls":3},"A有","12308A","SERPINA3","chr14:95080803","c.25G>A(E2)","p.9,A>T","rs4934",0.4,0.66,0.63,0.69,0.59,0.61,"纯合","无关","有rs号，MAF>=5%","16617143;17054776;18855268;19390575;19907165;24948216",{"$nulls":3},5,null,1,0,"SERPINA3",1,100,"错义",12220,"1.00=56/56",null,12,"14q32.1","NM_001085.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19596",118,108,0.92,{"$nulls":3},"A有","12308A","SERPINB3","chr18:61326628-61326629","IVS4+5至IVS4+4:插入T","非编码区","rs11370831",0.99,1,1,1,0.14,1,"纯合","无关","内含子突变",{"$nulls":4},5,null,2,0,"SERPINB3",1,280,"非编码区",2500,"0.93=124/134",null,6317,"18q21.3","NM_006919.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15581",173,82,0.47,{"$nulls":3},"A有","12308A","SERPINI2","chr3:167159980","IVS8-7A>G","剪切位点","rs9810473",0.21,0.27,0.23,0.3,0.28,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SERPINI2",1,230,"剪切位点",16202,"0.53=162/305",null,5276,"3q26","NM_006217.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17673",83,83,1,{"$nulls":3},"A有","12308A","SETBP1","chr18:42533130","c.3825A>G(E4)","p.1275,S>S","rs8096662",0.91,0.95,0.94,0.97,0.96,0.96,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神发育迟滞29型","AD",616078,5,1,4,2,"SETBP1",1,76,"同义",13203,"1.00=129/129",null,26040,"18q21.1","NM_015559.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7439",135,62,0.46,{"$nulls":3},"A有","12308A","SETX","chr9:135206469","c.1068T>C(E9)","p.356,V>V",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"肌萎缩性侧索硬化,幼年4型","AD",602433,4,1,8,2,"SETX",1,180,"同义",13403,"0.45=109/241",null,23064,"9q34.13","NM_015046.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6310",3,3,1,{"$nulls":3},"A有","12308A","SFT2D3","chr2:128459039","m.443A>G(E1)","非编码区","rs1048211",0.43,0.37,0.37,0.37,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SFT2D3",0.48,0.51,"非编码区",14200,"1.00=5/5",null,84826,"2q14.3","NM_032740.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14354",4,4,1,{"$nulls":3},"A有","12308A","SGCA","chr17:48252804","m.1206T>C(E9)","非编码区","rs2696288",null,1,1,1,0.98,1,"纯合","未知","UTR突变可能影响蛋白翻译",null,"肢带型肌营养不良症2D型","AR",608099,3,1,1,1,"SGCA",1,40,"非编码区",14300,"1.00=5/5",null,6442,"17q21","NM_000023.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28856",5,4,0.8,{"$nulls":3},"A有","12308A","SGTB","chr5:64965900","m.1308T>C(E11)","非编码区","rs1549192",0.17,0.15,0.2,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SGTB",1,330,"非编码区",14200,"0.83=5/6",null,54557,"5q12.3","NM_019072.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29281",7,7,1,{"$nulls":3},"A有","12308A","SH3TC1","chr4:8207083","c.162A>G(E2)","p.54,P>P","rs2677605",0.46,0.31,0.3,0.31,0.23,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"SH3TC1",0.95,23,"同义",13203,"1.00=9/9",null,54436,"4p16.1","NM_018986.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29277",7,2,0.29,{"$nulls":3},"A有","12308A","SH3TC1","chr4:8242740","m.4170G>C(E18)","非编码区","rs8153",0.23,0.2,0.17,0.23,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"SH3TC1",0.95,23,"非编码区",14200,"0.29=2/7",null,54436,"4p16.1","NM_018986.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21387",103,45,0.44,{"$nulls":3},"A有","12308A","SHPRH","chr6:146268623","IVS6+6T>A","剪切位点","rs9386141",0.56,0.7,0.69,0.7,null,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SHPRH",1,220,"剪切位点",16202,"0.41=60/147",null,257218,"6q24.3","NM_001042683.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10756",100,34,0.34,{"$nulls":3},"A有","12308A","SIGLEC12","chr19:52004795-52004795","c.193(E1):缺失G插入CT","复杂移码",{"$nulls":5},0.051,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,7,0,"SIGLEC12",1,78,"复杂移码",2140,"0.33=36/109",null,89858,"19q13.4","NM_053003.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12824",16,10,0.62,{"$nulls":3},"A有","12308A","SIGLEC14","chr19:52149165","c.570G>A(E3)","p.190,P>P","rs71358847",0.43,0.43,0.44,0.43,0.18,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SIGLEC14",1,53,"同义",13203,"0.67=14/21",null,100049587,"19q13.4","NM_001098612.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1267",58,23,0.4,{"$nulls":3},"A有","12308A","SIRPG","chr20:1610894","c.807G>A(E4)","p.269,Y>Y","rs3746721",0.34,0.66,0.64,0.67,0.58,0.64,"杂合","无关","有rs号，MAF>=5%",24968232,{"$nulls":3},5,null,9,0,"SIRPG",1,180,"同义",13203,"0.41=39/95",null,55423,"20p13","NM_001039508.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17819",56,55,0.98,{"$nulls":3},"A有","12308A","SLC11A1","chr2:219254622","c.825A>G(E9)","p.275,A>A","rs2695342",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"Buruli溃疡",null,610446,5,1,2,2,"SLC11A1",1,44,"同义",13203,"0.97=86/89",null,6556,"2q35","NM_000578.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17818",25,10,0.4,{"$nulls":3},"A有","12308A","SLC11A1","chr2:219259458","c.1492G>A(E14)","p.498,G>S","rs142636978",0.0072,0.022,0.043,0,0.027,0.034,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Buruli溃疡",null,610446,3,2,2,2,"SLC11A1",1,44,"错义",12120,"0.32=12/38",null,6556,"2q35","NM_000578.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16606",46,46,1,{"$nulls":3},"A有","12308A","SLC13A4","chr7:135406176","c.195A>G(E2)","p.65,L>L","rs4596594",0.45,0.43,0.43,0.44,0.45,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLC13A4",0.95,120,"同义",13203,"1.00=81/81",null,26266,"7q33","NM_012450.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16077",39,38,0.97,{"$nulls":3},"A有","12308A","SLC15A2","chr3:121613205","m.35G>C(E1)","非编码区","rs4603998",0.91,0.94,0.95,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SLC15A2",1,230,"非编码区",14200,"0.98=43/44",null,6565,"3q13.33","NM_001145998.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6448",91,90,0.99,{"$nulls":3},"A有","12308A","SLC1A1","chr9:4576680","c.1110T>C(E10)","p.370,T>T","rs301430",0.46,0.62,0.62,0.63,0.61,0.61,"纯合","无关","有rs号，MAF>=5%","16818867;17894418;19349310;19360657;20155310;23411042;23564280;23931931","二羧基氨基酸尿症","AR",222730,5,1,2,2,"SLC1A1",1,160,"同义",13203,"0.99=153/154",null,6505,"9p24","NM_004170.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16690",48,19,0.4,{"$nulls":3},"A有","12308A","SLC22A14","chr3:38350519","c.850G>A(E4)","p.284,V>M","rs818818",0.83,0.75,0.72,0.78,0.78,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC22A14",1,68,"错义",12220,"0.44=34/77",null,9389,"3p21.3","NM_004803.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17958",142,70,0.49,{"$nulls":3},"A有","12308A","SLC22A3","chr6:160872151","m.1781C>T(E11)","非编码区","rs1810126",0.3,0.46,0.48,0.45,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLC22A3",0.74,170,"非编码区",14200,"0.50=103/207",null,6581,"6q25.3","NM_021977.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29249",127,66,0.52,{"$nulls":3},"A有","12308A","SLC24A2","chr9:19622268","c.960T>C(E2)","p.320,P>P","rs4977308",0.78,0.89,0.89,0.88,0.85,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC24A2",1,140,"同义",13203,"0.53=120/225",null,25769,"9p22.1","NM_001193288.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3577",227,109,0.48,{"$nulls":3},"A有","12308A","SLC25A31","chr4:128689936","c.663A>G(E5)","p.221,P>P","rs2305958",0.54,0.38,0.44,0.31,0.32,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLC25A31",1,300,"同义",13203,"0.46=178/390",null,83447,"4q28.1","NM_031291.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25927",31,14,0.45,{"$nulls":3},"A有","12308A","SLC27A6","chr5:128301824","m.612T>A(E1)","非编码区","rs2526246",0.19,0.06,0.057,0.063,null,0.066,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLC27A6",1,190,"非编码区",14200,"0.41=19/46",null,28965,"5q23.3","NM_001017372.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7082",72,25,0.35,{"$nulls":3},"A有","12308A","SLC29A2","chr11:66133432","c.1034C>T(E10)","p.345,R>Q",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"SLC29A2",0.99,43,"错义",12410,"0.32=41/128",null,3177,"11q13","NM_001532.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1664",12,12,1,{"$nulls":3},"A有","12308A","SLC30A2","chr1:26365549","m.1438C>T(E8)","非编码区","rs2997452",0.7,0.84,0.86,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",null,"新生儿暂时性缺锌","AD",608118,5,1,1,1,"SLC30A2",1,61,"非编码区",14200,"1.00=17/17",null,7780,"1p35.3","NM_001004434.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19081",36,22,0.61,{"$nulls":3},"A有","12308A","SLC35G2","chr3:136574578-136574579","m.1639(E2)至m.1640(E2):插入TAA","非编码区","rs3076229",null,0.84,0.82,0.85,0.11,0.86,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"SLC35G2",1,130,"非编码区",2430,"0.63=24/38",null,80723,"3q22.3","NM_001097599.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v30615",76,75,0.99,{"$nulls":3},"A有","12308A","SLC36A2","chr5:150696447","c.1383C>T(E10)","p.461,Q>Q","rs369907",0.67,0.84,0.8,0.89,0.82,0.86,"纯合","无关","有rs号，MAF>=5%",null,"家族性肾原型亚甘氨酸尿症","AR",242600,5,1,3,2,"SLC36A2",1,140,"同义",13203,"0.98=133/136",null,153201,"5q33.1","NM_181776.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28859",12,6,0.5,{"$nulls":3},"A有","12308A","SLC38A8","chr16:84070510","IVS1-5G>A","剪切位点","rs1876962",0.45,0.62,0.63,0.6,null,0.58,"杂合","无关","有rs号，MAF>=5%",null,"中央凹发育不良2型","AR",609218,5,3,4,1,"SLC38A8",1,57,"剪切位点",16202,"0.56=9/16",null,146167,"16q23.3","NM_001080442.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18229",103,103,1,{"$nulls":3},"A有","12308A","SLC44A3","chr1:95330372","c.1312G>A(E11)","p.438,V>I","rs859098",0.75,0.99,0.99,0.99,0.97,0.98,"纯合","无关","有rs号，MAF>=5%",19060910,{"$nulls":3},5,null,1,0,"SLC44A3",0.99,210,"错义",12220,"0.98=185/188",null,126969,"1p21.3","NM_001114106.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14726",16,16,1,{"$nulls":3},"A有","12308A","SLC45A4","chr8:142225990","c.1656G>A(E6)","p.552,V>V","rs2288998",0.3,0.45,0.43,0.47,0.4,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"SLC45A4",1,25,"同义",13203,"1.00=26/26",null,57210,"8q24.3","NM_001080431.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13405",5,2,0.4,{"$nulls":3},"A有","12308A","SLC4A2","chr7:150768285","c.1876G>C(E13)","p.626,V>L",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"SLC4A2",0.97,29,"错义",12420,"0.22=2/9",null,6522,"7q36.1","NM_001199692.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9757",2,2,1,{"$nulls":3},"A有","12308A","SLC5A3","chr21:35469852","m.2867C>A(E2)","非编码区","rs4817618",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SLC5A3",1,110,"非编码区",14200,"1.00=2/2",null,6526,"21q22.12","NM_006933.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22489",146,146,1,{"$nulls":3},"A有","12308A","SLC6A5","chr11:20629164","c.951G>A(E5)","p.317,T>T","rs1443551",0.12,0.36,0.37,0.34,0.34,0.36,"纯合","无关","有rs号，MAF>=5%",null,"遗传性过度惊吓症3型","AD,AR",614618,5,1,7,1,"SLC6A5",0.99,130,"同义",13203,"1.00=270/270",null,9152,"11p15.1","NM_004211.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10136",142,67,0.47,{"$nulls":3},"A有","12308A","SLC7A13","chr8:87241847","c.660G>A(E1)","p.220,G>G","rs7814198",0.45,0.48,0.46,0.5,0.48,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC7A13",1,190,"同义",13203,"0.48=111/233",null,157724,"8q21.3","NM_138817.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4568",193,193,1,{"$nulls":3},"A有","12308A","SLC9C1","chr3:111981849","c.1119C>T(E10)","p.373,K>K","rs9860819",0.64,0.78,0.77,0.79,0.77,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"SLC9C1",1,310,"同义",13203,"1.00=332/333",null,285335,"3q13.2","NM_183061.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19127",99,53,0.54,{"$nulls":3},"A有","12308A","SLC9C2","chr1:173474429","c.3267T>C(E26)","p.1089,Q>Q","rs12026637",0.3,0.66,0.69,0.63,0.59,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC9C2",1,280,"同义",13203,"0.52=90/174",null,284525,"1q25.1","NM_178527.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2988",68,30,0.44,{"$nulls":3},"A有","12308A","SLFN11","chr17:33690466","c.361C>A(E4)","p.121,V>F","rs12453150",0.42,0.49,0.49,0.49,0.48,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SLFN11",1,160,"错义",12220,"0.41=38/92",null,91607,"17q12","NM_001104587.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21270",3,2,0.67,{"$nulls":3},"A有","12308A","SLIT3","chr5:168098235","c.4095A>G(E34)","p.1365,D>D","rs2277933",0.32,0.38,0.38,0.38,0.3,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SLIT3",0.95,64,"同义",13203,"0.60=3/5",null,6586,"5q35","NM_003062.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22595",132,63,0.48,{"$nulls":3},"A有","12308A","SMC1B","chr22:45767455","c.2209A>G(E14)","p.737,L>L","rs136569",0.71,0.72,0.69,0.74,0.68,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SMC1B",1,240,"同义",13203,"0.50=104/206",null,27127,"22q13.31","NM_148674.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23114",21,10,0.48,{"$nulls":3},"A有","12308A","SMG6","chr17:2203025","c.1022T>G(E2)","p.341,N>T","rs1885987",0.23,0.18,0.21,0.16,0.19,0.16,"杂合","无关","有rs号，MAF>=5%",19654370,{"$nulls":3},5,null,8,0,"SMG6",0.98,110,"错义",12220,"0.44=11/25",null,23293,"17p13.3","NM_017575.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8947",101,100,0.99,{"$nulls":3},"A有","12308A","SMPD2","chr6:109764535","c.795G>T(E9)","p.265,R>S","rs1476387",0.55,0.47,0.47,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SMPD2",1,90,"错义",12220,"0.99=170/171",null,6610,"6q21","NM_003080.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18974",36,36,1,{"$nulls":3},"A有","12308A","SNAPC2","chr19:7986638","c.352C>G(E3)","p.118,L>V","rs475002",0.41,0.46,0.49,0.43,0.48,0.51,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SNAPC2",0.91,26,"错义",12220,"1.00=60/60",null,6618,"19p13","NM_003083.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7564",12,7,0.58,{"$nulls":3},"A有","12308A","SNED1","chr2:242002306","c.2356G>A(E17)","p.786,A>T","rs74820922",0.089,0.21,0.22,0.2,0.17,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SNED1",0.95,23,"错义",12220,"0.60=9/15",null,25992,"2q37.3","NM_001080437.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16267",176,71,0.4,{"$nulls":3},"A有","12308A","SNX16","chr8:82727569","c.672T>C(E6)","p.224,E>E","rs16909651",0.16,0.17,0.14,0.2,0.2,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SNX16",1,240,"同义",13203,"0.38=115/303",null,64089,"8q21.13","NM_022133.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21885",215,97,0.45,{"$nulls":3},"A有","12308A","SNX7","chr1:99225627","c.1296G>A(E9)","p.432,E>E","rs2019213",0.88,0.64,0.71,0.57,0.58,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SNX7",1,240,"同义",13203,"0.44=179/408",null,51375,"1p21.3","NM_015976.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14304",98,45,0.46,{"$nulls":3},"A有","12308A","SORBS1","chr10:97141487","c.1608G>A(E16)","p.536,Y>Y","rs61739184",0.046,0.07,0.076,0.063,0.1,0.088,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"SORBS1",0.97,160,"同义",13103,"0.48=74/154",null,10580,"10q23.33","NM_001034954.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14686",116,67,0.58,{"$nulls":3},"A有","12308A","SORD","chr15:45353377","c.378C>T(E4)","p.126,D>D",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"SORD",1,150,"同义",13403,"0.56=109/196",null,6652,"15q15.3","NM_003104.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9265",270,122,0.45,{"$nulls":3},"A有","12308A","SPACA1","chr6:88768503","c.437G>A(E4)","p.146,R>H","rs117777526",0.0012,0.0072,0.0048,0.0097,0.0057,0.004,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"SPACA1",1,260,"错义",12110,"0.46=239/518",null,81833,"6q15","NM_030960.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6063",253,117,0.46,{"$nulls":3},"A有","12308A","SPAG17","chr1:118693217","c.264T>C(E3)","p.88,S>S","rs1935992",0.23,0.43,0.48,0.38,0.4,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SPAG17",1,230,"同义",13203,"0.47=225/479",null,200162,"1p12","NM_206996.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13260",154,74,0.48,{"$nulls":3},"A有","12308A","SPATA22","chr17:3352294","c.479A>G(E6)","p.160,I>T","rs1488689",0.27,0.41,0.4,0.42,0.44,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SPATA22",1,290,"错义",12220,"0.49=126/256",null,84690,"17p13.3","NM_001170695.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25183",175,175,1,{"$nulls":3},"A有","12308A","SPDL1","chr5:169031150","c.1757T>C(E12)","p.586,L>S","rs3777084",0.66,0.74,0.72,0.75,0.69,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SPDL1",1,240,"错义",12220,"1.00=309/309",{"$nulls":3},"NM_017785.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25185",97,97,1,{"$nulls":3},"A有","12308A","SPDL1","chr5:169031218","m.2104G>T(E12)","非编码区","rs2042248",0.68,0.74,0.72,0.75,null,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SPDL1",1,240,"非编码区",14200,"0.99=152/154",{"$nulls":3},"NM_017785.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2629",39,19,0.49,{"$nulls":3},"A有","12308A","SPINK4","chr9:33240225","c.19G>A(E1)","p.7,V>I","rs706107",0.38,0.25,0.23,0.26,0.27,0.29,"杂合","无关","有rs号，MAF>=5%",17333166,{"$nulls":3},5,null,1,0,"SPINK4",1,95,"错义",12220,"0.49=34/69",null,27290,"9p13.3","NM_014471.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29267",2,2,1,{"$nulls":3},"A有","12308A","SPRR1A","chr1:152958267","m.632T>C(E2)","非编码区","rs1129655",0.61,0.68,0.67,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SPRR1A",1,110,"非编码区",14200,"1.00=2/2",null,6698,"1q21-q22","NM_001199828.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31093",73,47,0.64,{"$nulls":3},"A有","12308A","SPRR3","chr1:152975715","c.219C>T(E2)","p.73,G>G","rs28989168",0.0004,0,0,0,0.43,null,"杂合","未知","预测范围之外的同义突变",21490620,{"$nulls":3},4,null,9,0,"SPRR3",1,150,"同义",13103,"0.63=76/120",null,6707,"1q21-q22","NM_001097589.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10839",78,78,1,{"$nulls":3},"A有","12308A","SPTA1","chr1:158619728","c.3487A>C(E25)","p.1163,S>A","rs2482965",0.99,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性畸形细胞增多症/遗传性嗜派洛宁异形红细胞症","AR",266140,5,1,14,3,"SPTA1",1,160,"错义",12220,"1.00=139/139",null,6708,"1q21","NM_003126.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12808",57,57,1,{"$nulls":3},"A有","12308A","SPTAN1","chr9:131346218","c.2163A>C(E16)","p.721,A>A","rs10760566",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"早发性婴儿癫痫性脑病5型","AD",613477,5,1,2,1,"SPTAN1",1,100,"同义",13203,"1.00=94/94",null,6709,"9q34.11","NM_001130438.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27980",53,23,0.43,{"$nulls":3},"A有","12308A","SQSTM1","chr5:179263446","c.924G>A(E9)","p.308,P>P","rs75700262",0.0036,0.024,0.014,0.034,0.019,0.018,"杂合","未知","预测范围之外的同义突变",null,"变形性骨炎","AD",602080,4,1,5,1,"SQSTM1",0.85,75,"同义",13103,"0.42=32/77",null,8878,"5q35","NM_001142298.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21562",130,130,1,{"$nulls":3},"A有","12308A","SRGN","chr10:70856852","c.92G>A(E2)","p.31,R>Q","rs2229498",0.59,0.54,0.55,0.52,0.51,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SRGN",1,200,"错义",12220,"1.00=210/210",null,5552,"10q22.1","NM_002727.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14913",2,2,1,{"$nulls":3},"A有","12308A","SRSF2","chr17:74733099","c.144G>A(E1)","p.48,D>D","rs237057",0.79,0.95,0.95,0.96,0.82,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SRSF2",0.95,21,"同义",13203,"1.00=3/3",null,6427,"17q25.1","NM_001195427.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25711",17,17,1,{"$nulls":3},"A有","12308A","SSFA2","chr2:182794534","m.4362G>A(E18)","非编码区","rs1051085",0.85,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SSFA2",1,160,"非编码区",14200,"1.00=19/19",null,6744,"2q31.3","NM_001130445.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22916",34,33,0.97,{"$nulls":3},"A有","12308A","ST14","chr11:130066335","c.1215C>T(E10)","p.405,N>N","rs476106",0.64,0.68,0.67,0.69,0.63,0.71,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病11型","AR",602400,5,1,1,1,"ST14",0.95,35,"同义",13203,"0.98=40/41",null,6768,"11q24-q25","NM_021978.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18522",11,11,1,{"$nulls":3},"A有","12308A","STAB1","chr3:52554304","c.5497G>C(E52)","p.1833,A>P","rs7630214",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"STAB1",0.99,32,"错义",12220,"1.00=21/21",null,23166,"3p21.1","NM_015136.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3633",77,37,0.48,{"$nulls":3},"A有","12308A","STAB2","chr12:104153006","c.7203G>T(E65)","p.2401,L>L","rs2271636",0.044,0.079,0.095,0.063,0.1,0.099,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"STAB2",1,160,"同义",13103,"0.49=64/131",null,55576,"12q23.3","NM_017564.9","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2805",15,10,0.67,{"$nulls":3},"A有","12308A","STAU1","chr20:47731228","m.2184A>C(E14)","非编码区","rs1043357",0.28,0.31,0.3,0.32,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"STAU1",1,160,"非编码区",14200,"0.64=14/22",null,6780,"20q13.1","NM_001037328.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13246",19,8,0.42,{"$nulls":3},"A有","12308A","STK32A","chr5:146763732","m.1657T>C(E13)","非编码区","rs75293173",0.063,0.2,0.21,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"STK32A",1,210,"非编码区",14200,"0.38=10/26",null,202374,"5q32","NM_001112724.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14368",28,13,0.46,{"$nulls":3},"A有","12308A","STRA8","chr7:134925411","c.201G>A(E2)","p.67,A>A","rs7805859",0.39,0.2,0.2,0.2,0.19,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"STRA8",1,88,"同义",13203,"0.41=19/46",null,346673,"7q33","NM_182489.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16225",145,84,0.58,{"$nulls":3},"A有","12308A","STX8","chr17:9395231","c.456G>A(E6)","p.152,D>D","rs9893664",0.71,0.82,0.82,0.83,0.8,0.83,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"STX8",1,220,"同义",13203,"0.53=129/242",null,9482,"17p12","NM_004853.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24823",34,15,0.44,{"$nulls":3},"A有","12308A","SULT1A2","chr16:28603335","m.980T>C(E8)","非编码区","rs762634",0.19,0.089,0.057,0.12,null,0.073,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SULT1A2",1,180,"非编码区",14200,"0.36=21/58",null,6799,"16p12.1","NM_001054.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17730",91,91,1,{"$nulls":3},"A有","12308A","SUPT16H","chr14:21829129","c.1932C>G(E17)","p.644,G>G","rs3762158",0.87,0.89,0.89,0.88,0.88,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SUPT16H",1,210,"剪切位点",13202,"1.00=130/130",null,11198,"14q11.2","NM_007192.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27716",82,35,0.43,{"$nulls":3},"A有","12308A","SUSD5","chr3:33195309","c.815A>G(E5)","p.272,L>S","rs61743461",0.2,0.22,0.22,0.22,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SUSD5",0.94,84,"错义",12220,"0.41=53/129",null,26032,"3p22.3","NM_015551.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10304",12,12,1,{"$nulls":3},"A有","12308A","SYCP2L","chr6:10887253","m.190G>C(E1)","非编码区","rs9358956",0.75,0.63,0.65,0.61,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SYCP2L",1,280,"非编码区",14200,"1.00=19/19",null,221711,"6p24.2","NM_001040274.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2691",112,112,1,{"$nulls":3},"A有","12308A","SYNE1","chr6:152540278","c.21691A>C(E119)","p.7231,F>V","rs2147377",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良4型","AD",612998,5,1,17,2,"SYNE1",1,160,"错义",12220,"0.99=190/191",null,23345,"6q25","NM_033071.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2688",121,59,0.49,{"$nulls":3},"A有","12308A","SYNE1","chr6:152675854","c.10866A>G(E67)","p.3622,S>S","rs9397102",0.57,0.6,0.6,0.6,0.59,0.61,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调8型","AR",610743,5,3,17,2,"SYNE1",1,160,"同义",13203,"0.44=92/211",null,23345,"6q25","NM_182961.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27811",51,26,0.51,{"$nulls":3},"A有","12308A","SYNE2","chr14:64637147","c.17202C>A(E94)","p.5734,L>L","rs7161192",0.37,0.57,0.6,0.55,0.57,0.58,"杂合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良5型","AD",612999,5,1,16,1,"SYNE2",1,190,"同义",13203,"0.49=33/68",null,23224,"14q23.2","NM_015180.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20304",62,23,0.37,{"$nulls":3},"A有","12308A","SYT10","chr12:33579408","c.174A>T(E2)","p.58,A>A","rs10844596",0.14,0.082,0.081,0.083,0.074,0.075,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SYT10",1,170,"同义",13203,"0.38=35/93",null,341359,"12p11.1","NM_198992.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26576",15,15,1,{"$nulls":3},"A有","12308A","SYT8","chr11:1857173","c.358T>C(E4)","p.120,C>R","rs564271",null,1,1,1,0.96,1,"纯合","未知","未知",{"$nulls":4},3,null,3,0,"SYT8",1,14,"错义",12330,"1.00=23/23",null,90019,"11p15.5","NM_138567.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8074",72,38,0.53,{"$nulls":3},"A有","12308A","TACC2","chr10:123996976","c.2428G>A(E11)","p.810,A>T","rs2295879",0.27,0.27,0.26,0.27,0.25,0.24,"杂合","无关","有rs号，MAF>=5%","16385451;16642439;24786987",{"$nulls":3},5,null,3,0,"TACC2",0.99,74,"错义",12220,"0.51=71/140",null,10579,"10q26","NM_006997.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28561",16,16,1,{"$nulls":3},"A有","12308A","TAMM41","chr3:11887991","c.120C>G(E1)","p.40,P>P","rs408600",0.43,0.27,0.29,0.26,0.28,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TAMM41",1,200,"同义",13203,"1.00=30/30",null,132001,"3p25.2","NM_138807.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28592",17,8,0.47,{"$nulls":3},"A有","12308A","TARS","chr5:33441124","m.243C>G(E1)","非编码区","rs2304621",{"$nulls":4},0.22,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"TARS",0.96,250,"非编码区",14300,"0.46=12/26",null,6897,"5p13.2","NM_001258438.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7850",75,75,1,{"$nulls":3},"A有","12308A","TAS2R20","chr12:11149532","m.943A>G(E1)","非编码区","rs1450839",0.42,0.75,0.73,0.77,null,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"TAS2R20",1,140,"非编码区",14200,"1.00=127/127",null,259295,"12p13.2","NM_176889.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6475",27,27,1,{"$nulls":3},"A有","12308A","TBC1D1","chr4:37903756","c.40T>C(E2)","p.14,S>P","rs2279027",0.7,0.61,0.6,0.61,0.59,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"TBC1D1",0.93,130,"错义",12220,"1.00=35/35",null,23216,"4p14","NM_001253912.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14031",23,21,0.91,{"$nulls":3},"A有","12308A","TBC1D4","chr13:75860860","m.4312C>T(E21)","非编码区","rs41286106",0.034,0.11,0.1,0.12,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"非胰岛素依赖性糖尿病5",null,616087,3,1,9,1,"TBC1D4",1,160,"非编码区",14100,"0.89=31/35",null,9882,"13q22.2","NM_014832.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19287",122,54,0.44,{"$nulls":3},"A有","12308A","TBRG1","chr11:124502114","c.1216C>T(E9)","p.406,P>S","rs76570671",0.038,0.094,0.09,0.097,0.12,0.1,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"TBRG1",1,130,"错义",12120,"0.39=78/202",null,84897,"11q24.2","NM_032811.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5791",7,5,0.71,{"$nulls":3},"A有","12308A","TCEB3B","chr18:44561100","c.536C>G(E1)","p.179,R>P","rs2571028",0.56,0.61,0.6,0.63,0.58,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TCEB3B",1,40,"错义",12220,"0.62=5/8",null,51224,"18q21.1","NM_016427.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27985",16,4,0.25,{"$nulls":3},"A有","12308A","TCP10","chr6:167796319","c.43T>C(E2)","p.15,S>G","rs17855833",0.24,0.37,0.37,0.38,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TCP10",1,220,"错义",12220,"0.21=5/24",null,6953,"6q27","NM_004610.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23408",6,3,0.5,{"$nulls":3},"A有","12308A","TCP11L2","chr12:106740540","m.1966A>G(E10)","非编码区","rs2252929",0.78,0.77,0.75,0.8,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TCP11L2",1,200,"非编码区",14200,"0.50=4/8",null,255394,"12q23.3","NM_152772.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1474",143,142,0.99,{"$nulls":3},"A有","12308A","TDRD9","chr14:104429453","c.360A>G(E3)","p.120,T>T","rs6576013",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"TDRD9",1,200,"同义",13203,"1.00=267/268",null,122402,"14q32.33","NM_153046.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26392",81,42,0.52,{"$nulls":3},"A有","12308A","TENM3","chr4:183664522","c.3579T>C(E18)","p.1193,Y>Y","rs7654255",0.23,0.13,0.17,0.097,0.13,0.15,"杂合","无关","有rs号，MAF>=5%",null,"孤立性小眼球，伴眼组织缺损9型","AR",615145,5,3,8,1,"TENM3",0.98,140,"同义",13203,"0.48=61/126",{"$nulls":3},"NM_001080477.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26062",23,12,0.52,{"$nulls":3},"A有","12308A","TEP1","chr14:20872881","c.921G>T(E5)","p.307,N>K","rs1760898",0.36,0.42,0.47,0.37,0.33,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"TEP1",1,100,"错义",12220,"0.43=16/37",null,7011,"14q11.2","NM_007110.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27401",24,24,1,{"$nulls":3},"A有","12308A","TEX11","chrX:69749853","IVS29-4T>A","剪切位点","rs1536251",null,0.88,0.88,0.88,null,null,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"TEX11",0.98,160,"剪切位点",16302,"1.00=39/39",null,56159,"Xq13.1","NM_001003811.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26696",21,14,0.67,{"$nulls":3},"A有","12308A","TFAP2A","chr6:10415307","m.164C>G(E1)","非编码区","rs1800927",0.11,0.25,0.29,0.21,null,null,"杂合","无关","有rs号，MAF>=5%",null,"鳃裂-眼-面综合征","AD",113620,5,1,2,1,"TFAP2A",1,53,"非编码区",14200,"0.62=23/37",null,7020,"6p24","NM_003220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29979",61,35,0.57,{"$nulls":3},"A有","12308A","TG","chr8:134108546","c.7501T>C(E43)","p.2501,W>R","rs2069569",0.52,0.2,0.22,0.18,0.19,0.22,"杂合","无关","有rs号，MAF>=5%",null,"甲状腺激素生成障碍3型","AR",274700,5,3,9,2,"TG",1,110,"错义",12220,"0.60=69/115",null,7038,"8q24","NM_003235.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3142",66,65,0.98,{"$nulls":3},"A有","12308A","TGM4","chr3:44943069","c.711C>T(E7)","p.237,Y>Y","rs1995640",0.57,0.85,0.85,0.85,0.81,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TGM4",1,130,"同义",13203,"0.99=111/112",null,7047,"3p22-p21.33","NM_003241.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18781",2,2,1,{"$nulls":3},"A有","12308A","TGS1","chr8:56685933","m.143C>A(E1)","非编码区","rs13276393",0.86,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TGS1",1,220,"非编码区",14200,"1.00=2/2",null,96764,"8q11","NM_024831.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26077",40,40,1,{"$nulls":3},"A有","12308A","THEM5","chr1:151820298","c.616G>C(E5)","p.206,L>V","rs6587624",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"THEM5",1,110,"错义",12230,"1.00=65/65",null,284486,"1q21.3","NM_182578.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16086",36,36,1,{"$nulls":3},"A有","12308A","THRAP3","chr1:36752433","c.602C>T(E4)","p.201,A>V","rs6425977",0.8,0.95,0.94,0.96,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"THRAP3",1,130,"错义",12220,"0.98=56/57",null,9967,"1p34.3","NM_005119.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18480",87,87,1,{"$nulls":3},"A有","12308A","TIAM2","chr6:155577823","c.1449C>T(E13)","p.483,A>A","rs1571766",0.75,0.98,0.99,0.97,0.96,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"TIAM2",1,130,"同义",13203,"0.99=120/121",null,26230,"6q25.2","NM_001010927.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27344",72,72,1,{"$nulls":3},"A有","12308A","TIMD4","chr5:156376703","c.719A>G(E4)","p.240,V>A","rs6873053",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TIMD4",1,200,"错义",12220,"0.99=140/141",null,91937,"5q33.3","NM_001146726.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31178",90,47,0.52,{"$nulls":3},"A有","12308A","TJP2","chr9:71841018","c.1068A>G(E8)","p.356,L>L","rs17062695",0.11,0.089,0.086,0.092,0.093,0.1,"杂合","无关","有rs号，MAF>=5%",24752540,"进行性家族性肝内胆汁淤积4型","AR",615878,5,3,8,2,"TJP2",1,150,"同义",13203,"0.50=79/159",null,9414,"9q13-q21","NM_001170414.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24071",47,15,0.32,{"$nulls":3},"A有","12308A","TLN1","chr9:35705759","c.5601G>A(E42)","p.1867,T>T","rs11541908",0.17,0.26,0.27,0.26,0.23,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TLN1",1,67,"同义",13203,"0.33=28/86",null,7094,"9p13","NM_006289.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10288",15,14,0.93,{"$nulls":3},"A有","12308A","TLN2","chr15:63014548","IVS22-4A>G","剪切位点","rs10775181",0.86,0.98,0.99,0.98,null,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TLN2",1,100,"剪切位点",16202,"0.94=17/18",null,83660,"15q15-q21","NM_015059.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6007",6,5,0.83,{"$nulls":3},"A有","12308A","TMA16","chr4:164415792","m.120G>A(E1)","非编码区","rs2276978",0.11,0.13,0.12,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMA16",1,230,"非编码区",14200,"0.71=5/7",null,55319,"4q32.2","NM_018352.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11936",46,46,1,{"$nulls":3},"A有","12308A","TMC7","chr16:19049378","IVS8+9A>G","非编码区","rs8043993",0.6,0.77,0.77,0.76,null,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMC7",0.97,140,"非编码区",16203,"1.00=61/61",null,79905,"16p12.3","NM_001160364.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8416",24,12,0.5,{"$nulls":3},"A有","12308A","TMCO3","chr13:114175038","c.1333G>A(E8)","p.445,A>T","rs7319493",0.19,0.11,0.09,0.12,0.09,0.096,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMCO3",1,150,"错义",12220,"0.51=23/45",null,55002,"13q34","NM_017905.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7058",36,18,0.5,{"$nulls":3},"A有","12308A","TMEM128","chr4:4249484","m.451A>C(E1)","非编码区","rs2916465",0.46,0.44,0.44,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TMEM128",1,320,"非编码区",14200,"0.47=20/43",null,85013,"4p16.3","NM_032927.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28071",81,81,1,{"$nulls":3},"A有","12308A","TMEM159","chr16:21190853","c.462A>C(E5)","p.154,E>D","rs1063087",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM159",1,180,"错义",12220,"1.00=143/143",null,57146,"16p12","NM_020422.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2371",2,2,1,{"$nulls":3},"A有","12308A","TMEM175","chr4:941518","m.89C>T(E2)","非编码区","rs2290402",0.15,0.31,0.27,0.34,null,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMEM175",0.97,29,"非编码区",14200,"1.00=2/2",null,84286,"4p16.3","NM_032326.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6954",13,13,1,{"$nulls":3},"A有","12308A","TMEM198","chr2:220412256","c.195T>C(E3)","p.65,F>F","rs8179770",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMEM198",0.94,19,"同义",13203,"1.00=18/18",null,130612,"2q35","NM_001005209.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23089",6,3,0.5,{"$nulls":3},"A有","12308A","TMEM242","chr6:157713662","m.1419T>C(E4)","非编码区","rs1136157",0.32,0.56,0.54,0.58,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMEM242",1,210,"非编码区",14200,"0.60=6/10",null,729515,"6q25.3","NM_018452.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12820",2,2,1,{"$nulls":3},"A有","12308A","TMEM44","chr3:194337901","c.710T>C(E6)","p.237,Q>R","rs922282",0.89,0.91,0.9,0.92,0.75,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TMEM44",0.98,55,"错义",12220,"1.00=3/3",null,93109,"3q29","NM_001011655.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5968",163,85,0.52,{"$nulls":3},"A有","12308A","TMEM67","chr8:94794620","IVS11-3C>T","剪切位点","rs3097427",0.72,0.84,0.83,0.85,0.79,0.84,"杂合","无关","有rs号，MAF>=5%",null,"Meckel综合征3型",null,607361,5,2,2,5,"TMEM67",1,280,"剪切位点",16202,"0.51=169/333",null,91147,"8q22.1","NM_001142301.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27597",69,37,0.54,{"$nulls":3},"A有","12308A","TMPRSS11A","chr4:68812283","c.18C>T(E2)","p.6,V>V","rs11930532",0.62,0.84,0.8,0.89,0.79,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMPRSS11A",1,250,"同义",13203,"0.53=58/109",null,339967,"4q13.2","NM_001114387.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25152",25,16,0.64,{"$nulls":3},"A有","12308A","TMPRSS13","chr11:117800083","m.86T>C(E1)","非编码区","rs10892196",0.62,0.67,0.68,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMPRSS13",1,48,"非编码区",14200,"0.67=24/36",null,84000,"11q23","NM_001077263.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31212",75,75,1,{"$nulls":3},"A有","12308A","TMTC4","chr13:101288992","IVS8-4C>T","剪切位点","rs3803256",0.47,0.59,0.54,0.63,null,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMTC4",1,170,"剪切位点",16202,"0.99=115/116",null,84899,"13q32.3","NM_001079669.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9553",35,35,1,{"$nulls":3},"A有","12308A","TNFRSF19","chr13:24234517","c.624A>G(E7)","p.208,S>S","rs3751364",0.66,0.59,0.59,0.59,0.54,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TNFRSF19",1,130,"同义",13203,"1.00=67/67",null,55504,"13q12.11-q12.3","NM_001204458.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21369",7,3,0.43,{"$nulls":3},"A有","12308A","TNK2","chr3:195611844","c.484G>A(E4)","p.162,R>W","rs3747673",0.018,0.12,0.086,0.16,0.14,0.11,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"TNK2",0.78,17,"错义",12110,"0.50=6/12",null,10188,"3q29","NM_001010938.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4538",17,10,0.59,{"$nulls":3},"A有","12308A","TNNC2","chr20:44452771","IVS4-5A>G","剪切位点","rs59673641",0.097,0.087,0.1,0.073,null,0.079,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TNNC2",1,35,"剪切位点",16202,"0.56=15/27",null,7125,"20q12-q13.11","NM_003279.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v185",139,139,1,{"$nulls":3},"A有","12308A","TOB2","chr22:41829794","m.4263C>G(E2)","非编码区","rs6609",0.8,0.93,0.92,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TOB2",1,32,"非编码区",14200,"1.00=241/242",null,10766,"22q13.2","NM_016272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12264",84,84,1,{"$nulls":3},"A有","12308A","TOPBP1","chr3:133368362","c.1369T>G(E10)","p.457,K>Q","rs3192149",0.7,0.63,0.61,0.65,0.6,0.58,"纯合","无关","有rs号，MAF>=5%",18380902,{"$nulls":3},5,null,3,0,"TOPBP1",1,220,"错义",12220,"0.99=136/137",null,11073,"3q22.1","NM_007027.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26857",12,6,0.5,{"$nulls":3},"A有","12308A","TP53","chr17:7578645","m.167C>T(E1)","非编码区","rs2909430",0.84,0.96,0.96,0.97,null,null,"杂合","无关","有rs号，MAF>=5%",null,"遗传性肾上腺皮质癌","AR",202300,5,3,2,11,"TP53",1,100,"非编码区",14200,"0.40=6/15",null,7157,"17p13.1","NM_001126115.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31676",87,39,0.45,{"$nulls":3},"A有","12308A","TP63","chr3:189349247","m.32A>T(E1)","非编码区","rs28673064",0.49,0.77,0.79,0.75,0.61,null,"杂合","无关","有rs号，MAF>=5%",null,"先天性缺指趾畸形,外胚层发育不良,和裂唇/腭综合征3","AD",604292,5,1,4,6,"TP63",1,180,"非编码区",14200,"0.43=56/131",null,8626,"3q28","NM_001114978.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3374",5,5,1,{"$nulls":3},"A有","12308A","TPPP","chr5:665280","c.597T>C(E4)","p.199,S>S","rs1697963",0.72,0.64,0.69,0.59,0.57,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TPPP",0.97,9.4,"同义",13203,"1.00=7/7",null,11076,"5p15.3","NM_007030.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7542",6,3,0.5,{"$nulls":3},"A有","12308A","TPSD1","chr16:1306560-1306560","c.126(E2):缺失G","缺失移码","rs3830782",0.27,0.15,0.13,0.17,0,0.16,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,7,0,"TPSD1",1,26,"缺失移码",2120,"0.50=5/10",null,23430,"16p13.3","NM_012217.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1406",11,2,0.18,{"$nulls":3},"A有","12308A","TRAIP","chr3:49866392","m.1660C>T(E15)","非编码区","rs1128535",0.42,0.14,0.12,0.15,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TRAIP",1,100,"非编码区",14200,"0.17=2/12",null,10293,"3p21.31","NM_005879.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25629",33,19,0.58,{"$nulls":3},"A有","12308A","TREML2","chr6:41165840","IVS2+7T>C","非编码区","rs6902672",0.26,0.18,0.15,0.21,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TREML2",1,72,"非编码区",16203,"0.52=24/46",null,79865,"6p21.1","NM_024807.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27861",71,31,0.44,{"$nulls":3},"A有","12308A","TRIM22","chr11:5718517","c.463G>A(E3)","p.155,D>N","rs7935564",0.46,0.17,0.16,0.17,0.16,0.18,"杂合","无关","有rs号，MAF>=5%","23921607;24934404",{"$nulls":3},5,null,4,0,"TRIM22",1,150,"错义",12220,"0.44=53/120",null,10346,"11p15","NM_001199573.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25421",12,6,0.5,{"$nulls":3},"A有","12308A","TRIM42","chr3:140396869","m.4C>T(E1)","非编码区","rs6762605",0.29,0.2,0.2,0.21,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TRIM42",1,89,"非编码区",14200,"0.50=7/14",null,287015,"3q23","NM_152616.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29128",88,46,0.52,{"$nulls":3},"A有","12308A","TRIM69","chr15:45047134","c.43G>A(E2)","p.15,D>N","rs2470911",0.56,0.62,0.63,0.62,0.6,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TRIM69",1,150,"错义",12220,"0.53=66/124",null,140691,"15q21.1","NM_182985.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29131",41,41,1,{"$nulls":3},"A有","12308A","TRIM69","chr15:45047573","c.482C>T(E2)","p.161,T>M","rs3100139",0.72,0.79,0.8,0.79,0.76,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TRIM69",1,150,"错义",12220,"1.00=62/62",null,140691,"15q21.1","NM_182985.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26487",68,68,1,{"$nulls":3},"A有","12308A","TRNT1","chr3:3170792","c.68C>T(E2)","p.23,P>L","rs334773",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"铁粒幼细胞性贫血伴B细胞免疫缺陷，周期性发热和发育迟缓","AR",616084,5,1,2,1,"TRNT1",1,230,"错义",12230,"1.00=127/127",null,51095,"3p25.1","NM_182916.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2959",73,73,1,{"$nulls":3},"A有","12308A","TRPM3","chr9:73151715","c.4278C>T(E25)","p.1426,L>L","rs7033976",0.86,0.98,0.98,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TRPM3",1,150,"同义",13203,"1.00=102/102",null,80036,"9q21.12","NM_001007471.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17967",43,43,1,{"$nulls":3},"A有","12308A","TRPV1","chr17:3480447","c.1753T>C(E12)","p.585,I>V","rs8065080",0.32,0.57,0.59,0.56,0.57,0.67,"纯合","无关","有rs号，MAF>=5%","20034385;21423693;21616913;23118204",{"$nulls":3},5,null,5,0,"TRPV1",1,53,"错义",12220,"1.00=69/69",null,7442,"17p13.2","NM_018727.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11788",111,55,0.5,{"$nulls":3},"A有","12308A","TSHR","chr14:81575005","c.742C>A(E9)","p.248,R>S","rs3783941",0.61,0.38,0.34,0.41,0.3,0.34,"杂合","无关","有rs号，MAF>=5%",24728327,"非自身免疫先天性甲状腺机能亢进","AD",609152,5,1,4,3,"TSHR",1,180,"错义",12220,"0.47=86/184",null,7253,"14q31","NM_001018036.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8434",207,103,0.5,{"$nulls":3},"A有","12308A","TSPAN13","chr7:16823169","m.910A>C(E6)","非编码区","rs3807498",0.13,0.15,0.17,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TSPAN13",1,280,"非编码区",14200,"0.47=149/314",null,27075,"7p21.1","NM_014399.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28188",177,177,1,{"$nulls":3},"A有","12308A","TSPAN8","chr12:71526593","c.456G>A(E7)","p.152,C>C","rs2270587",0.14,0.26,0.25,0.27,0.22,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TSPAN8",1,310,"同义",13203,"1.00=302/303",null,7103,"12q14.1-q21.1","NM_004616.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10994",21,11,0.52,{"$nulls":3},"A有","12308A","TTC22","chr1:55253437","c.686C>T(E3)","p.229,R>H","rs80076000",0.023,0.067,0.076,0.058,0.058,0.076,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"TTC22",0.73,23,"错义",12110,"0.57=17/30",null,55001,"1p32.3","NM_001114108.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26271",59,27,0.46,{"$nulls":3},"A有","12308A","TTC39A","chr1:51753812","m.1859G>A(E18)","非编码区","rs635590",0.12,0.096,0.086,0.11,null,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TTC39A",1,87,"非编码区",14200,"0.47=44/93",null,22996,"1p32.3","NM_001080494.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5219",103,103,1,{"$nulls":3},"A有","12308A","TTC5","chr14:20770036","c.140T>C(E2)","p.47,Q>R","rs3742945",0.75,0.81,0.76,0.85,0.81,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TTC5",1,160,"错义",12220,"1.00=168/168",null,91875,"14q11.2","NM_138376.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7554",5,2,0.4,{"$nulls":3},"A有","12308A","TTLL8","chr22:50468933","c.2219G>T(E13)","p.740,A>E","rs79298",0.34,0.2,0.22,0.17,0.15,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TTLL8",0.83,30,"错义",12220,"0.50=4/8",null,164714,"22q13.33","XM_003403494.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15080",22,9,0.41,{"$nulls":3},"A有","12308A","TTN","chr2:179400586","IVS307-10A>G","剪切位点","rs202214630",0.023,0.079,0.081,0.078,null,0.35,"杂合","未知","剪切位点预测结果为无害",null,"先天性肌病,早发,伴心肌病","AR",611705,4,3,71,6,"TTN",0.99,150,"剪切位点",16102,"0.44=12/27",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15061",98,51,0.52,{"$nulls":3},"A有","12308A","TTN","chr2:179423099","c.82164A>G(E277)","p.27388,L>L","rs12621078",0.022,0.072,0.081,0.063,0.057,0.067,"杂合","未知","预测范围之外的同义突变",null,"肢带型肌营养不良症2J型","AR",608807,4,3,71,6,"TTN",0.99,150,"同义",13103,"0.52=90/174",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15079",54,27,0.5,{"$nulls":3},"A有","12308A","TTN","chr2:179431594","c.74342A>G(E276)","p.24781,I>T","rs3731745",0.022,0.072,0.081,0.063,0.057,0.065,"杂合","可能相关","蛋白结构预测结果为有害",null,"先天性肌病,早发,伴心肌病","AR",611705,2,3,71,6,"TTN",0.99,150,"错义",12110,"0.53=41/78",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15069",85,43,0.51,{"$nulls":3},"A有","12308A","TTN","chr2:179454394","c.57135A>G(E254)","p.19045,Y>Y","rs1560221",0.51,0.7,0.73,0.66,0.63,0.7,"杂合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,2,71,6,"TTN",0.99,150,"同义",13203,"0.48=65/135",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15089",139,68,0.49,{"$nulls":3},"A有","12308A","TTN","chr2:179474466","c.46761C>T(E222)","p.15587,A>A","rs2288566",0.03,0.1,0.12,0.087,0.083,0.1,"杂合","未知","预测范围之外的同义突变",null,"先天性肌病,早发,伴心肌病","AR",611705,4,3,71,6,"TTN",0.99,150,"同义",13103,"0.51=116/227",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15077",227,105,0.46,{"$nulls":3},"A有","12308A","TTN","chr2:179499530","c.37148T>C(E179)","p.12383,H>R","rs2288563",0.031,0.11,0.13,0.087,0.088,0.1,"杂合","可能相关","蛋白结构预测结果为有害",null,"迟发性胫骨肌营养不良症","AD",600334,2,1,71,6,"TTN",0.99,150,"错义",12110,"0.44=199/456",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15107",155,67,0.43,{"$nulls":3},"A有","12308A","TTN","chr2:179554305","c.30913C>T(E121)","p.10305,G>R","rs2244492",0.41,0.17,0.18,0.15,0.14,0.18,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,3,71,6,"TTN",0.99,150,"错义",12220,"0.42=110/265",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15092",105,105,1,{"$nulls":3},"A有","12308A","TTN","chr2:179578730","c.25704G>A(E90)","p.8568,S>S","rs2562839",0.44,0.66,0.7,0.63,0.65,0.67,"纯合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,1,71,6,"TTN",0.99,150,"同义",13203,"1.00=188/188",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15082",73,71,0.97,{"$nulls":3},"A有","12308A","TTN","chr2:179580434","c.24756A>G(E87)","p.8252,Y>Y","rs2742329",0.051,0.22,0.23,0.22,0.21,0.27,"纯合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,1,71,6,"TTN",0.99,150,"同义",13203,"0.98=122/125",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15073",56,56,1,{"$nulls":3},"A有","12308A","TTN","chr2:179600648","c.13574C>T(E48)","p.4525,R>K","rs2742347",0.14,0.22,0.23,0.22,0.21,0.21,"纯合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,1,71,6,"TTN",0.99,150,"错义",12220,"1.00=84/84",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15045",53,52,0.98,{"$nulls":3},"A有","12308A","TTN","chr2:179611711","c.15416C>A(E46)","p.5139,R>M","rs66677602",0.077,0.23,0.23,0.23,0.21,0.22,"纯合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,71,6,"TTN",0.99,150,"错义",12220,"0.98=81/83",null,7273,"2q31","NM_133379.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15067",33,33,1,{"$nulls":3},"A有","12308A","TTN","chr2:179615931","c.11196C>G(E46)","p.3732,L>F","rs922985",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,1,71,6,"TTN",0.99,150,"错义",12220,"1.00=45/45",null,7273,"2q31","NM_133379.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15100",158,157,0.99,{"$nulls":3},"A有","12308A","TTN","chr2:179642425","IVS25+6G>A","剪切位点","rs719201",0.91,0.9,0.91,0.9,0.82,0.88,"纯合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,71,6,"TTN",0.99,150,"剪切位点",16202,"1.00=275/276",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15076",57,57,1,{"$nulls":3},"A有","12308A","TTN","chr2:179647546","c.3087A>G(E18)","p.1029,Y>Y","rs55863869",0.078,0.22,0.23,0.2,0.18,0.21,"纯合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,1,71,6,"TTN",0.99,150,"同义",13203,"1.00=85/85",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v16803",75,73,0.97,{"$nulls":3},"A有","12308A","TUBA3E","chr2:130949491","c.1266G>A(E5)","p.422,R>R","rs60154251",{"$nulls":4},0.49,0.46,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"TUBA3E",1,150,"同义",13303,"0.97=122/126",null,112714,"2q21.1","NM_207312.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22727",5,5,1,{"$nulls":3},"A有","12308A","TUBG1","chr17:40761628","m.271A>G(E1)","非编码区","rs1878388",0.98,1,1,1,null,0.97,"纯合","无关","有rs号，MAF>=5%",null,"复合型脑皮质发育不良伴其他脑发育畸形4型","AD",615412,5,1,2,1,"TUBG1",1,100,"非编码区",14200,"1.00=5/5",null,7283,"17q21","NM_001070.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22780",133,69,0.52,{"$nulls":3},"A有","12308A","TXNDC2","chr18:9887394","c.918C>T(E2)","p.306,A>A","rs2240910",0.52,0.83,0.86,0.8,0.75,0.83,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TXNDC2",1,180,"同义",13203,"0.54=118/218",null,84203,"-","NM_001098529.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2630",66,66,1,{"$nulls":3},"A有","12308A","TXNRD1","chr12:104645405","c.192T>C(E2)","p.64,D>D","rs7975161",0.85,0.88,0.88,0.89,0.9,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TXNRD1",0.99,200,"同义",13203,"1.00=113/113",null,7296,"12q23-q24.1","NM_001093771.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3490",125,125,1,{"$nulls":3},"A有","12308A","UBAP2","chr9:34017106","c.41C>T(E2)","p.14,R>Q","rs1785506",0.63,0.83,0.84,0.82,0.82,0.83,"纯合","无关","有rs号，MAF>=5%",20670673,{"$nulls":3},5,null,3,0,"UBAP2",1,140,"错义",12210,"0.98=225/230",null,55833,"9p13.3","NM_018449.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4712",49,27,0.55,{"$nulls":3},"A有","12308A","UBQLNL","chr11:5536852","c.820A>G(E1)","p.274,Y>H","rs2017434",0.32,0.4,0.39,0.4,0.37,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"UBQLNL",1,94,"错义",12210,"0.51=36/70",null,143630,"11p15.4","NM_145053.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19763",38,38,1,{"$nulls":3},"A有","12308A","UBR4","chr1:19510394","IVS16-4A>G","剪切位点","rs3762396",0.72,0.8,0.79,0.81,0.79,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"UBR4",1,130,"剪切位点",16202,"1.00=48/48",null,23352,"1p36.13","NM_020765.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10594",3,3,1,{"$nulls":3},"A有","12308A","UFSP2","chr4:186347092","m.48T>C(E1)","非编码区","rs10866275",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"UFSP2",1,270,"非编码区",14200,"1.00=5/5",null,55325,"4q35.1","NM_018359.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23829",139,59,0.42,{"$nulls":3},"A有","12308A","UGT1A5","chr2:234622310","c.673C>T(E1)","p.225,H>Y","rs17862867",{"$nulls":4},0.18,0.22,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,13,0,"UGT1A5",1,170,"错义",12320,"0.40=93/235",null,54579,"2q37","NM_019078.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8203",36,35,0.97,{"$nulls":3},"A有","12308A","UGT2B17","chr4:69434217","m.29G>A(E1)","非编码区","rs28672900",0.99,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"骨矿物质密度数量性状位点12",null,612560,5,1,2,1,"UGT2B17",1,180,"非编码区",14200,"0.98=48/49",null,7367,"4q13","NM_001077.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23596",10,2,0.2,{"$nulls":3},"A有","12308A","UHRF1","chr19:4929473","c.393A>G(E3)","p.131,E>E","rs2123731",0.32,0.07,0.076,0.063,0.068,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"UHRF1",1,38,"同义",13203,"0.31=4/13",null,29128,"19p13.3","NM_001048201.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25002",11,4,0.36,{"$nulls":3},"A有","12308A","UMPS","chr3:124449291","m.79A>G(E1)","非编码区","rs1139538",0.56,0.64,0.63,0.66,0.63,0.68,"杂合","无关","有rs号，MAF>=5%",null,"乳清酸尿症","AR",258900,5,3,2,1,"UMPS",1,140,"非编码区",14200,"0.33=5/15",null,7372,"3q13","NM_000373.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11227",108,108,1,{"$nulls":3},"A有","12308A","UNC80","chr2:210745681","IVS24-4C>A","剪切位点","rs2370838",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"UNC80",1,160,"剪切位点",16202,"0.99=198/200",null,285175,"2q35","NM_032504.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1223",108,108,1,{"$nulls":3},"A有","12308A","UPK1B","chr3:118909159","c.338A>G(E4)","p.113,Q>R","rs9840317",0.92,0.95,0.97,0.92,0.91,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UPK1B",1,190,"错义",12220,"0.99=188/190",null,7348,"3q13.32","NM_006952.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31629",113,58,0.51,{"$nulls":3},"A有","12308A","USH1C","chr11:17542439","c.1188T>C(E14)","p.396,P>P","rs2240487",null,0.74,0.72,0.76,0.68,0.66,"杂合","未知","预测范围之外的同义突变",null,"常染色体隐性遗传耳聋18型","AR",602092,4,3,2,2,"USH1C",1,68,"同义",13303,"0.52=97/186",null,10083,"11p14.3","NM_005709.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17315",103,103,1,{"$nulls":3},"A有","12308A","USH2A","chr1:216595306","c.373C>T(E2)","p.125,A>T","rs10779261",0.76,0.8,0.8,0.8,0.84,0.83,"纯合","无关","有rs号，MAF>=5%",null,"尤塞氏综合症IIA型","AR",276901,5,1,8,2,"USH2A",1,190,"错义",12220,"1.00=147/147",null,7399,"1q41","NM_007123.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31720",7,4,0.57,{"$nulls":3},"A有","12308A","USP3","chr15:63883204","m.1839C>T(E14)","非编码区","rs117047171",0.008,0.029,0.029,0.029,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"USP3",1,240,"非编码区",14100,"0.50=4/8",null,9960,"15q22.3","NM_001256702.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24107",177,177,1,{"$nulls":3},"A有","12308A","USP47","chr11:11913585","c.224G>T(E3)","p.75,G>V","rs11022079",0.82,0.86,0.88,0.83,0.86,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"USP47",1,230,"错义",12220,"1.00=317/317",null,55031,"11p15.3","NM_017944.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v289",19,19,1,{"$nulls":3},"A有","12308A","USP6NL","chr10:11504313","m.2708C>T(E14)","非编码区","rs2440082",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"USP6NL",1,190,"非编码区",14200,"1.00=27/27",null,9712,"10p13","NM_001080491.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28109",19,19,1,{"$nulls":3},"A有","12308A","VAMP1","chr12:6579757","m.87T>C(E1)","非编码区","rs2532489",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性痉挛性共济失调1型","AD",108600,5,1,4,1,"VAMP1",1,120,"非编码区",14200,"1.00=27/27",null,6843,"12p","NM_014231.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19106",36,20,0.56,{"$nulls":3},"A有","12308A","VCAN","chr5:82834299","c.2516G>A(E7)","p.839,R>H","rs188703",0.36,0.29,0.3,0.28,0.31,0.35,"杂合","无关","有rs号，MAF>=5%",19655167,"Wagner综合症","AD",143200,5,1,12,1,"VCAN",1,150,"错义",12220,"0.55=31/56",null,1462,"5q14.3","NM_001164097.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17637",24,14,0.58,{"$nulls":3},"A有","12308A","VEGFA","chr6:43752536","m.1974C>T(E8)","非编码区","rs3025039",0.13,0.2,0.21,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",null,"糖尿病微血管并发症易感1型",null,603933,5,2,1,1,"VEGFA",0.78,60,"非编码区",14200,"0.56=14/25",null,7422,"6p12","NM_001025366.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22222",76,76,1,{"$nulls":3},"A有","12308A","VN1R5","chr1:247419664","c.291C>T(E1)","p.97,T>T","rs1778541",0.77,0.86,0.87,0.85,0.84,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"VN1R5",1,120,"同义",13203,"0.99=111/112",null,317705,"1q44","NM_173858.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5905",83,35,0.42,{"$nulls":3},"A有","12308A","VPS8","chr3:184573555","c.1092C>T(E14)","p.364,Y>Y","rs6443999",0.55,0.67,0.69,0.66,0.64,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"VPS8",1,250,"同义",13203,"0.43=60/138",null,23355,"3q27.2","NM_001009921.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19855",5,4,0.8,{"$nulls":3},"A有","12308A","VRTN","chr14:74824365","c.879A>G(E2)","p.293,K>K","rs17099563",0.047,0.058,0.052,0.063,0.053,0.051,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"VRTN",1,20,"同义",13103,"0.71=5/7",null,55237,"14q24.3","NM_018228.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3819",89,35,0.39,{"$nulls":3},"A有","12308A","VWA3B","chr2:98844674","c.2029C>G(E15)","p.677,L>V","rs7601049",0.69,0.79,0.78,0.79,0.76,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"VWA3B",1,160,"错义",12220,"0.35=56/160",null,200403,"2q11.2","NM_144992.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29020",55,55,1,{"$nulls":3},"A有","12308A","VWF","chr12:6091000","c.7239A>G(E42)","p.2413,T>T","rs216867",0.83,0.92,0.92,0.92,0.92,0.93,"纯合","无关","有rs号，MAF>=5%",null,"II型 von Willebrand病","AD,AR",613554,5,1,15,3,"VWF",0.97,76,"同义",13203,"1.00=88/88",null,7450,"12p13.3","NM_000552.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29031",40,16,0.4,{"$nulls":3},"A有","12308A","VWF","chr12:6153534","c.2365T>C(E18)","p.789,T>A","rs1063856",0.34,0.082,0.1,0.063,0.068,0.074,"杂合","无关","有rs号，MAF>=5%","19379518;20346360;20565774;21534939;22133274;22568520;22858724;23267103","I型 von Willebrand病","AD",193400,5,1,15,3,"VWF",0.97,76,"错义",12220,"0.44=29/66",null,7450,"12p13.3","NM_000552.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7960",67,36,0.54,{"$nulls":3},"A有","12308A","WASF2","chr1:27736478","c.1047T>C(E8)","p.349,P>P","rs2273270",0.15,0.39,0.41,0.36,0.3,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WASF2",1,170,"同义",13203,"0.58=64/111",null,10163,"1p36.11","NM_006990.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5006",182,181,0.99,{"$nulls":3},"A有","12308A","WDR17","chr4:177073026","c.2440G>A(E18)","p.814,A>T","rs4690661",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WDR17",1,280,"错义",12220,"0.99=333/335",null,116966,"4q34","NM_170710.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12615",51,51,1,{"$nulls":3},"A有","12308A","WDR43","chr2:29129418","c.456A>G(E3)","p.152,E>E","rs11688605",0.37,0.79,0.82,0.77,0.76,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"WDR43",1,220,"同义",13203,"1.00=85/85",null,23160,"2p23.2","NM_015131.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22252",26,16,0.62,{"$nulls":3},"A有","12308A","WDR46","chr6:33256397","c.192G>A(E3)","p.64,S>S","rs9277965",0.13,0.12,0.11,0.13,0.12,0.091,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"WDR46",1,80,"同义",13203,"0.59=22/37",null,9277,"6p21.3","NM_001164267.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26401",225,225,1,{"$nulls":3},"A有","12308A","WDR7","chr18:54339818","c.72C>G(E2)","p.24,A>A","rs568078",0.9,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"WDR7",1,210,"同义",13203,"1.00=414/414",null,23335,"18q21.31","NM_015285.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10635",28,28,1,{"$nulls":3},"A有","12308A","WDR87","chr19:38376485","c.7709T>A(E6)","p.2570,H>L","rs10408510",0.88,0.9,0.91,0.88,0.9,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"WDR87",1,98,"错义",12220,"1.00=40/40",null,83889,"19q13.13","NM_031951.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11674",85,36,0.42,{"$nulls":3},"A有","12308A","WDYHV1","chr8:124448736","c.278A>G(E4)","p.93,N>S","rs7014678",0.41,0.55,0.57,0.54,0.53,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"WDYHV1",0.99,200,"错义",12220,"0.44=67/153",null,55093,"8q24.13","NM_018024.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17995",12,12,1,{"$nulls":3},"A有","12308A","WFS1","chr4:6292915","IVS4-9A>G","剪切位点","rs10010131",0.73,0.93,0.87,0.98,0.87,0.93,"纯合","无关","有rs号，MAF>=5%",null,"WOLFRAM 样综合征（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AD",614296,5,1,8,5,"WFS1",0.94,32,"剪切位点",16202,"1.00=20/20",null,7466,"4p16.1","NM_001145853.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25188",61,61,1,{"$nulls":3},"A有","12308A","WIPI2","chr7:5254227","c.273C>G(E4)","p.91,V>V","rs4587243",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WIPI2",0.95,110,"同义",13203,"1.00=122/122",null,26100,"7p22.1","NM_001033518.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7582",98,98,1,{"$nulls":3},"A有","12308A","WNK1","chr12:993930","c.4740C>T(E19)","p.1580,N>N","rs7300444",0.4,0.55,0.55,0.55,0.53,0.52,"纯合","无关","有rs号，MAF>=5%",null,"假性醛固酮减少症2C型","AD",614492,5,1,6,2,"WNK1",0.92,150,"同义",13203,"0.99=164/165",null,65125,"12p13.3","NM_001184985.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9801",106,106,1,{"$nulls":3},"A有","12308A","WWOX","chr16:78198192","IVS5+6T>C","剪切位点","rs2303191",0.79,0.88,0.86,0.91,null,0.89,"纯合","无关","有rs号，MAF>=5%",null,"脊髓小脑性共济失调12","AR",614322,5,1,1,2,"WWOX",0.97,140,"剪切位点",16202,"1.00=180/180",null,51741,"16q23.3-q24.1","NM_016373.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31489",96,46,0.48,{"$nulls":3},"A有","12308A","XIRP2","chr2:168104988","c.6420G>T(E7)","p.2140,M>I","rs59889092",0.17,0.12,0.13,0.12,0.097,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"XIRP2",0.99,150,"错义",12220,"0.47=67/143",null,129446,"2q24.3","NM_001199144.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5220",43,21,0.49,{"$nulls":3},"A有","12308A","XKR5","chr8:6690276","c.205T>C(E2)","p.69,M>V","rs2741098",0.67,0.57,0.56,0.57,0.55,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"XKR5",0.97,69,"错义",12220,"0.42=29/69",null,389610,"8p23.1","NM_207411.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1355",13,13,1,{"$nulls":3},"A有","12308A","XXYLT1","chr3:194790422","m.1312G>A(E4)","非编码区","rs3796158",0.18,0.36,0.35,0.36,null,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"XXYLT1",0.57,31,"非编码区",14200,"0.96=25/26",null,152002,"3q29","NM_152531.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20298",44,44,1,{"$nulls":3},"A有","12308A","YTHDF3","chr8:64098729-64098730","c.159(E4)至c.160(E4):插入G","插入移码","rs33994594",1,1,1,1,0.16,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,1,0,"YTHDF3",1,150,"插入移码",2120,"1.00=47/47",null,253943,"8q12.3","NM_152758.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1017",15,5,0.33,{"$nulls":3},"A有","12308A","ZAN","chr7:100371114","c.5632C>T(E30)","p.1878,P>S","rs314298",0.48,0.16,0.2,0.12,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"ZAN",0.99,120,"错义",12210,"0.36=8/22",null,7455,"7q22","NM_003386.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v129",4,2,0.5,{"$nulls":3},"A有","12308A","ZBTB12","chr6:31867835","c.1248G>A(E2)","p.416,R>R","rs182445071",0.003,0.017,0.019,0.015,0.0048,0.017,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZBTB12",0.93,12,"同义",13103,"0.50=3/6",null,221527,"6p21.33","NM_181842.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4442",38,14,0.37,{"$nulls":3},"A有","12308A","ZC3H3","chr8:144520147","m.2955G>A(E12)","非编码区","rs2294117",0.18,0.42,0.47,0.36,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZC3H3",0.97,13,"非编码区",14200,"0.34=21/61",null,23144,"8q24.3","NM_015117.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27456",224,224,1,{"$nulls":3},"A有","12308A","ZCWPW2","chr3:28520417","c.605T>A(E4)","p.202,L>Q","rs1563656",0.45,0.61,0.61,0.62,0.61,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZCWPW2",1,270,"错义",12220,"1.00=398/399",null,152098,"3p24.1","NM_001040432.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21313",4,4,1,{"$nulls":3},"A有","12308A","ZDHHC12","chr9:131483551","c.713T>A(E5)","p.238,N>I","rs11539209",0.056,0.041,0.052,0.029,0.043,0.086,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZDHHC12",1,16,"错义",12210,"1.00=6/6",null,84885,"9q34.11","NM_032799.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27764",65,27,0.42,{"$nulls":3},"A有","12308A","ZFP28","chr19:57060317","IVS4-10C>T","剪切位点","rs2074940",0.46,0.66,0.64,0.68,null,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZFP28",0.99,160,"剪切位点",16202,"0.41=42/102",null,140612,"-","NM_020828.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31555",4,4,1,{"$nulls":3},"A有","12308A","ZGPAT","chr20:62340115","c.183C>G(E2)","p.61,S>R","rs1291212",0.97,1,1,1,0.85,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZGPAT",0.94,15,"错义",12220,"1.00=6/6",null,84619,"20q13.3","NM_001083113.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11885",47,20,0.43,{"$nulls":3},"A有","12308A","ZKSCAN2","chr16:25268368","c.81A>G(E1)","p.27,P>P","rs4787310",0.46,0.44,0.45,0.43,0.43,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZKSCAN2",1,130,"同义",13203,"0.43=32/75",null,342357,"16p12.1","NM_001012981.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4516",21,20,0.95,{"$nulls":3},"A有","12308A","ZNF117","chr7:64437957","m.3277A>T(E4)","非编码区","rs7810372",null,0.88,0.9,0.86,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,8,0,"ZNF117",1,130,"非编码区",14300,"0.97=31/32",null,51351,"7q11.21","NM_015852.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4416",58,30,0.52,{"$nulls":3},"A有","12308A","ZNF154","chr19:58213952","c.365C>A(E3)","p.122,G>V","rs2074078",0.17,0.37,0.39,0.36,0.37,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF154",1,160,"错义",12220,"0.50=42/84",null,7710,"19q13.4","NM_001085384.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3840",103,46,0.45,{"$nulls":3},"A有","12308A","ZNF17","chr19:57932027","c.1167C>T(E3)","p.389,N>N","rs2158009",0.16,0.25,0.24,0.25,0.26,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF17",1,170,"同义",13203,"0.44=71/162",null,7565,"19q13.4","NM_006959.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19507",3,3,1,{"$nulls":3},"A有","12308A","ZNF2","chr2:95848018","m.1835T>C(E4)","非编码区","rs3105105",0.79,0.66,0.63,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF2",1,110,"非编码区",14200,"1.00=4/4",null,7549,"2q11.2","NM_001017396.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v8230",113,113,1,{"$nulls":3},"A有","12308A","ZNF208","chr19:22157302","c.534G>A(E4)","p.178,Y>Y","rs10419899",0.57,0.75,0.72,0.79,0.68,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF208",1,110,"同义",13203,"1.00=185/185",null,7757,"19p12","NM_007153.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1269",121,53,0.44,{"$nulls":3},"A有","12308A","ZNF264","chr19:57723007","c.542G>C(E4)","p.181,R>T","rs2074858",0.62,0.28,0.27,0.29,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF264",1,160,"错义",12220,"0.42=76/179",null,9422,"19q13.4","NM_003417.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6842",2,2,1,{"$nulls":3},"A有","12308A","ZNF280B","chr22:22841841","m.2659A>T(E4)","非编码区","rs5758478",0.79,0.78,0.76,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF280B",1,130,"非编码区",14200,"1.00=2/2",null,140883,"22q11.22","NM_080764.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2317",75,37,0.49,{"$nulls":3},"A有","12308A","ZNF285","chr19:44890685","c.1722T>G(E4)","p.574,G>G","rs73039936",0.098,0.14,0.17,0.12,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF285",1,140,"同义",13203,"0.50=56/113",null,26974,"-","NM_152354.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23607",68,39,0.57,{"$nulls":3},"A有","12308A","ZNF324B","chr19:58965660","c.187A>G(E3)","p.63,S>G","rs12611254",0.0082,0.055,0.071,0.039,0.051,0.048,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZNF324B",0.96,34,"错义",12120,"0.54=59/109",null,388569,"19q13.43","NM_207395.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20038",45,23,0.51,{"$nulls":3},"A有","12308A","ZNF385D","chr3:21706369","IVS2+9G>A","非编码区","rs3821396",0.089,0.15,0.15,0.15,null,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF385D",1,140,"非编码区",16203,"0.47=34/72",null,79750,"3p24.3","NM_024697.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26100",3,3,1,{"$nulls":3},"A有","12308A","ZNF430","chr19:21241537","m.2601T>A(E5)","非编码区","rs10409844",0.67,0.9,0.9,0.9,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF430",1,180,"非编码区",14200,"1.00=5/5",null,80264,"19p12","NM_001172671.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15239",12,8,0.67,{"$nulls":3},"A有","12308A","ZNF443","chr19:12540784","m.2400G>A(E4)","非编码区","rs1056003",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,15,0,"ZNF443",1,280,"非编码区",14300,"0.56=9/16",null,10224,"19p13.2","NM_005815.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25397",67,67,1,{"$nulls":3},"A有","12308A","ZNF479","chr7:57188016","c.1106A>G(E5)","p.369,M>T","rs78588121",0.32,0.63,0.63,0.63,0.55,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF479",1,200,"错义",12220,"1.00=91/91",null,90827,"7p11.2","NM_033273.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25131",16,14,0.88,{"$nulls":3},"A有","12308A","ZNF518B","chr4:10447986-10447986","m.454(E3):缺失T","非编码区","rs35177766",0.52,0.62,0.61,0.64,0.034,0.63,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"ZNF518B",1,110,"非编码区",2420,"0.88=15/17",null,85460,"4p16.1","NM_053042.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v625",180,102,0.57,{"$nulls":3},"A有","12308A","ZNF534","chr19:52941171","c.458T>C(E4)","p.153,F>S","rs1428180",0.83,0.67,0.67,0.66,0.69,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF534",1,220,"错义",12220,"0.56=166/296",null,147658,"19q13.41","NM_001143938.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10878",57,29,0.51,{"$nulls":3},"A有","12308A","ZNF573","chr19:38229824","c.1303T>C(E6)","p.435,M>V","rs3095726",0.73,0.4,0.38,0.42,0.39,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF573",0.87,120,"错义",12220,"0.49=44/89",null,126231,"19q13.12","NM_001172689.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20978",66,57,0.86,{"$nulls":3},"A有","12308A","ZNF595","chr4:87313-87314","c.1918(E4)至c.1919(E4):插入A","插入移码","rs397952018",{"$nulls":4},0.16,1,"纯合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,6,0,"ZNF595",0.99,260,"插入移码",2130,"0.86=65/76",null,152687,"4p16.3","NM_182524.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10933",3,3,1,{"$nulls":3},"A有","12308A","ZNF616","chr19:52617778","m.2922C>G(E4)","非编码区","rs73571268",0.07,0.012,0.0095,0.015,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF616",1,170,"非编码区",14200,"1.00=4/4",null,90317,"19q13.41","NM_178523.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11755",101,48,0.48,{"$nulls":3},"A有","12308A","ZNF643","chr1:40923019","c.344G>A(E4)","p.115,C>Y","rs2272994",0.22,0.32,0.34,0.3,0.3,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF643",1,160,"错义",12220,"0.48=77/162",null,65243,"1p34.2","NM_023070.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17565",60,60,1,{"$nulls":3},"A有","12308A","ZNF681","chr19:23926332","m.2162G>A(E4)","非编码区","rs10405811",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF681",1,130,"非编码区",14200,"1.00=103/103",null,148213,"19p12","NM_138286.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18070",44,44,1,{"$nulls":3},"A有","12308A","ZNF695","chr1:247151557","c.260A>G(E4)","p.87,V>A","rs2642992",0.63,0.99,0.99,0.99,0.93,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF695",0.97,130,"错义",12220,"1.00=60/60",null,57116,"1q44","NM_001204221.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7392",166,131,0.79,{"$nulls":3},"A有","12308A","ZNF714","chr19:21299774-21299775","c.304(E5)至c.305(E5):插入ATA","插入非移码","rs36125838",null,0.9,0.9,0.9,0.15,0.88,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ZNF714",1,160,"插入非移码",2231,"0.79=146/185",null,148206,"19p12","NM_182515.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31256",63,35,0.56,{"$nulls":3},"A有","12308A","ZNF736","chr7:63808867","c.626C>A(E5)","p.209,A>E","rs11976837",0.34,0.4,0.39,0.41,0.37,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF736",1,170,"错义",12210,"0.58=51/88",null,728927,"7q11.21","NM_001170905.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11277",46,21,0.46,{"$nulls":3},"A有","12308A","ZNF746","chr7:149191460","c.159G>A(E2)","p.53,A>A","rs112293204",0.35,0.52,0.55,0.48,0.47,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF746",0.83,37,"同义",13203,"0.38=29/77",null,155061,"7q36.1","NM_001163474.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28070",79,79,1,{"$nulls":3},"A有","12308A","ZNF749","chr19:57956828","c.2312T>G(E3)","p.771,I>R","rs7246856",0.71,0.78,0.75,0.82,0.75,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF749",1,140,"错义",12220,"1.00=122/122",null,388567,"19q13.43","NM_001023561.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1426",17,10,0.59,{"$nulls":3},"A有","12308A","ZNF750","chr17:80788465","c.1725T>C(E3)","p.575,A>A","rs12938126",0.37,0.36,0.36,0.36,0.35,0.36,"杂合","无关","有rs号，MAF>=5%",null,"类脂溢性皮炎合并牛皮鲜",null,610227,5,2,3,1,"ZNF750",1,43,"同义",13203,"0.65=20/31",null,79755,"17q25.3","NM_024702.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1425",19,12,0.63,{"$nulls":3},"A有","12308A","ZNF750","chr17:80788492","c.1698A>G(E3)","p.566,P>P","rs12948179",0.37,0.36,0.36,0.36,0.35,0.36,"杂合","无关","有rs号，MAF>=5%",null,"类脂溢性皮炎合并牛皮鲜",null,610227,5,2,3,1,"ZNF750",1,43,"同义",13203,"0.70=26/37",null,79755,"17q25.3","NM_024702.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1427",11,6,0.55,{"$nulls":3},"A有","12308A","ZNF750","chr17:80790442","m.200T>G(E2)","非编码区","rs3744165",0.79,0.93,0.93,0.93,0.87,null,"杂合","无关","有rs号，MAF>=5%",null,"类脂溢性皮炎合并牛皮鲜",null,610227,5,2,3,1,"ZNF750",1,43,"非编码区",14200,"0.53=8/15",null,79755,"17q25.3","NM_024702.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28732",60,25,0.42,{"$nulls":3},"A有","12308A","ZNF76","chr6:35258465","c.597C>A(E7)","p.199,F>L","rs140038187",0.0026,0.0072,0,0.015,0.01,0.0095,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ZNF76",1,57,"错义",12110,"0.45=50/112",null,7629,"6p21.31","NM_003427.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28734",5,2,0.4,{"$nulls":3},"A有","12308A","ZNF76","chr6:35260503","c.1104C>T(E10)","p.368,H>H","rs1557567",0.63,0.67,0.7,0.64,0.61,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF76",1,57,"同义",13203,"0.25=3/12",null,7629,"6p21.31","NM_003427.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28733",7,4,0.57,{"$nulls":3},"A有","12308A","ZNF76","chr6:35260530","c.1131C>T(E10)","p.377,S>S","rs1557568",{"$nulls":4},0.62,0.66,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF76",1,57,"同义",13303,"0.40=6/15",null,7629,"6p21.31","NM_003427.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29556",62,52,0.84,{"$nulls":3},"A有","12308A","ZNF761","chr19:53952886-53952886","c.137(E5):缺失C","缺失移码","rs59092521",1,1,1,1,0.14,1,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,7,0,"ZNF761",1,230,"缺失移码",2120,"0.81=60/74",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29551",129,73,0.57,{"$nulls":3},"A有","12308A","ZNF761","chr19:53958126","c.366T>G(E6)","p.122,Y>X","rs2708743",0.64,0.53,0.54,0.53,0.52,0.55,"杂合","无关","理论上这种无义突变会导致蛋白翻译提前终止，高频MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF761",1,230,"截断",15200,"0.57=116/204",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29555",252,130,0.52,{"$nulls":3},"A有","12308A","ZNF761","chr19:53958263","c.503G>A(E6)","p.168,C>Y","rs1984432",0.74,0.57,0.59,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF761",1,230,"错义",12230,"0.51=226/439",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29554",110,45,0.41,{"$nulls":3},"A有","12308A","ZNF761","chr19:53958798","c.1038G>T(E6)","p.346,S>S","rs72483991",0.054,0.16,0.17,0.14,0.11,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF761",1,230,"同义",13203,"0.37=64/174",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29553",44,26,0.59,{"$nulls":3},"A有","12308A","ZNF761","chr19:53960204","m.2902G>T(E6)","非编码区","rs72483992",0.054,0.16,0.17,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF761",1,230,"非编码区",14200,"0.59=38/64",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29552",47,27,0.57,{"$nulls":3},"A有","12308A","ZNF761","chr19:53960241","m.2939A>T(E6)","非编码区","rs72483994",0.054,0.16,0.17,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF761",1,230,"非编码区",14200,"0.56=40/72",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29557",26,8,0.31,{"$nulls":3},"A有","12308A","ZNF761","chr19:53960688-53960692","m.3386(E6)至m.3390(E6):缺失CTTCA","非编码区","rs149377914",0.052,0.16,0.17,0.14,0.005,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,7,0,"ZNF761",1,230,"非编码区",2420,"0.30=9/30",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18502",67,67,1,{"$nulls":3},"A有","12308A","ZNF763","chr19:12090765","m.2190C>A(E4)","非编码区","rs279142",0.86,0.7,0.74,0.67,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF763",1,290,"非编码区",14200,"1.00=94/94",null,284390,"19p13.2","NM_001012753.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20859",105,47,0.45,{"$nulls":3},"A有","12308A","ZNF765","chr19:53911973","c.1165A>G(E4)","p.389,S>G","rs10425136",0.77,0.67,0.7,0.65,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"错义",12220,"0.47=77/164",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20858",156,69,0.44,{"$nulls":3},"A有","12308A","ZNF765","chr19:53912242","c.1434G>A(E4)","p.478,T>T","rs10426347",0.77,0.67,0.7,0.65,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"同义",13203,"0.45=118/261",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20863",73,34,0.47,{"$nulls":3},"A有","12308A","ZNF765","chr19:53912548","m.1863T>C(E4)","非编码区","rs7246019",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"非编码区",14200,"0.48=55/115",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20862",62,33,0.53,{"$nulls":3},"A有","12308A","ZNF765","chr19:53912770","m.2085G>A(E4)","非编码区","rs12461238",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"非编码区",14200,"0.54=53/99",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20864",75,21,0.28,{"$nulls":3},"A有","12308A","ZNF765","chr19:53912805-53912806","m.2120(E4)至m.2121(E4):插入AC","非编码区","rs35942807",null,0.67,0.7,0.65,0.11,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"ZNF765",1,250,"非编码区",2430,"0.29=23/80",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20860",33,17,0.52,{"$nulls":3},"A有","12308A","ZNF765","chr19:53913555","m.2870C>G(E4)","非编码区","rs6509753",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"非编码区",14200,"0.52=30/58",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20861",20,9,0.45,{"$nulls":3},"A有","12308A","ZNF765","chr19:53914108","m.3423C>T(E4)","非编码区","rs2068630",0.76,0.68,0.7,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,250,"非编码区",14200,"0.48=14/29",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23402",51,21,0.41,{"$nulls":3},"A有","12308A","ZNF77","chr19:2933480","m.1776C>T(E4)","非编码区","rs3786948",0.67,0.56,0.55,0.57,null,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF77",1,120,"非编码区",14200,"0.41=25/61",null,58492,"19p13.3","NM_021217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23401",78,46,0.59,{"$nulls":3},"A有","12308A","ZNF77","chr19:2934282","c.843T>C(E4)","p.281,S>S","rs3746073",0.84,0.56,0.55,0.57,0.51,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF77",1,120,"同义",13203,"0.56=77/137",null,58492,"19p13.3","NM_021217.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23400",154,81,0.53,{"$nulls":3},"A有","12308A","ZNF77","chr19:2936623","c.210C>T(E3)","p.70,E>E","rs4807371",0.84,0.56,0.55,0.57,0.5,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF77",1,120,"同义",13203,"0.56=146/260",null,58492,"19p13.3","NM_021217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15470",35,17,0.49,{"$nulls":3},"A有","12308A","ZNF770","chr15:35273620","c.2016C>T(E3)","p.672,Q>Q","rs4923849",0.47,0.38,0.4,0.37,0.29,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF770",1,110,"同义",13203,"0.46=21/46",null,54989,"15q14","NM_014106.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11141",78,78,1,{"$nulls":3},"A有","12308A","ZNF772","chr19:57984918","c.1194A>G(E5)","p.398,S>S","rs2074058",0.41,0.63,0.6,0.66,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF772",1,160,"同义",13203,"1.00=118/118",null,400720,"19q13.43","NM_001024596.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11140",70,70,1,{"$nulls":3},"A有","12308A","ZNF772","chr19:57985460","c.652T>A(E5)","p.218,M>L","rs2074059",null,0.69,0.68,0.71,0.73,0.72,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ZNF772",1,160,"错义",12320,"1.00=108/108",null,400720,"19q13.43","NM_001024596.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11142",110,110,1,{"$nulls":3},"A有","12308A","ZNF772","chr19:57985566","c.546G>C(E5)","p.182,C>W","rs2074060",0.68,0.69,0.68,0.71,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF772",1,160,"错义",12220,"1.00=172/172",null,400720,"19q13.43","NM_001024596.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11143",6,5,0.83,{"$nulls":3},"A有","12308A","ZNF772","chr19:57988666-57988667","c.12(E1)至c.11(E1):插入GCC","插入非移码","rs528587884",0.41,0.62,0.59,0.65,0.078,0.63,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,4,0,"ZNF772",1,160,"插入非移码",2222,"0.83=5/6",null,400720,"19q13.43","NM_001024596.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6487",24,24,1,{"$nulls":3},"A有","12308A","ZNF773","chr19:58018848","m.1525A>G(E4)","非编码区","rs2066936",0.44,0.62,0.58,0.66,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF773",1,190,"非编码区",14200,"1.00=28/28",null,374928,"19q13.43","NM_198542.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20626",83,82,0.99,{"$nulls":3},"A有","12308A","ZNF774","chr15:90903311","c.248A>G(E4)","p.83,N>S","rs2589957",0.69,0.84,0.86,0.83,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",18817904,{"$nulls":3},5,null,1,0,"ZNF774",1,140,"错义",12220,"0.99=126/127",null,342132,"15q26.1","NM_001004309.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1986",2,2,1,{"$nulls":3},"A有","12308A","ZNF775","chr7:150093701","c.132A>C(E3)","p.44,I>I","rs940453",0.84,0.81,0.78,0.84,0.6,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF775",0.46,1.9,"同义",13203,"1.00=3/3",null,285971,"7q36.1","NM_173680.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19791",3,3,1,{"$nulls":3},"A有","12308A","ZNF776","chr19:58258466","IVS1+7G>T","非编码区","rs60751243",0.28,0.47,0.49,0.46,0.41,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,200,"非编码区",16203,"1.00=6/6",null,284309,"19q13.43","NM_173632.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19790",5,5,1,{"$nulls":3},"A有","12308A","ZNF776","chr19:58266192","m.1957C>T(E3)","非编码区","rs12609667",0.3,0.45,0.47,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,200,"非编码区",14200,"1.00=5/5",null,284309,"19q13.43","NM_173632.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22577",28,28,1,{"$nulls":3},"A有","12308A","ZNF777","chr7:149152770","c.344A>G(E2)","p.115,V>A","rs3735319",0.66,0.8,0.83,0.78,0.77,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF777",0.89,35,"错义",12220,"0.98=41/42",null,27153,"7q36.1","NM_015694.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22576",56,56,1,{"$nulls":3},"A有","12308A","ZNF777","chr7:149152906","c.208G>A(E2)","p.70,R>W","rs3735318",0.6,0.8,0.82,0.78,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF777",0.89,35,"错义",12220,"1.00=89/89",null,27153,"7q36.1","NM_015694.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4851",23,23,1,{"$nulls":3},"A有","12308A","ZNF778","chr16:89287481","m.285C>A(E2)","非编码区","rs117976521",0.04,0.082,0.09,0.073,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF778",0.96,140,"非编码区",14100,"1.00=44/44",null,197320,"16q24.3","NM_001201407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4850",118,116,0.98,{"$nulls":3},"A有","12308A","ZNF778","chr16:89289624","c.177G>A(E4)","p.59,L>L","rs12920028",0.12,0.1,0.12,0.083,0.094,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF778",0.96,140,"同义",13203,"0.99=200/203",null,197320,"16q24.3","NM_001201407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4853",60,60,1,{"$nulls":3},"A有","12308A","ZNF778","chr16:89293291","c.595G>A(E7)","p.199,V>M","rs117690401",0.041,0.082,0.09,0.073,0.079,0.085,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ZNF778",0.96,140,"错义",12120,"1.00=94/94",null,197320,"16q24.3","NM_001201407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4852",82,82,1,{"$nulls":3},"A有","12308A","ZNF778","chr16:89294798","c.2102A>G(E7)","p.701,Y>C","rs118093429",0.041,0.082,0.09,0.073,0.073,0.086,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ZNF778",0.96,140,"错义",12110,"1.00=139/139",null,197320,"16q24.3","NM_001201407.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4849",4,3,0.75,{"$nulls":3},"A有","12308A","ZNF778","chr16:89295046","m.2689T>C(E7)","非编码区","rs12927047",0.23,0.11,0.12,0.1,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF778",0.96,140,"非编码区",14200,"0.75=3/4",null,197320,"16q24.3","NM_001201407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12048",78,40,0.51,{"$nulls":3},"A有","12308A","ZNF780A","chr19:40582039","c.310T>A(E6)","p.104,I>L","rs74805553",0.024,0.12,0.12,0.13,0.16,0.15,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ZNF780A",1,250,"错义",12120,"0.54=67/124",null,284323,"19q13.2","NM_001010880.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9465",23,20,0.87,{"$nulls":3},"A有","12308A","ZNF781","chr19:38159530","m.2262C>T(E4)","非编码区","rs2927747",0.63,0.4,0.38,0.41,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF781",1,170,"非编码区",14200,"0.78=29/37",null,163115,"19q13.12","NM_152605.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26907",34,17,0.5,{"$nulls":3},"A有","12308A","ZNF782","chr9:99580199","m.2387A>G(E6)","非编码区","rs73654606",0.19,0.22,0.2,0.24,null,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,130,"非编码区",14200,"0.47=25/53",null,158431,"9q22.33","NM_001001662.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26909",69,38,0.55,{"$nulls":3},"A有","12308A","ZNF782","chr9:99581811","c.494C>T(E6)","p.165,R>H","rs4645656",0.27,0.32,0.29,0.35,0.36,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,130,"错义",12220,"0.55=54/99",null,158431,"9q22.33","NM_001001662.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26908",70,39,0.56,{"$nulls":3},"A有","12308A","ZNF782","chr9:99581916","c.389C>G(E6)","p.130,R>P","rs7870376",0.22,0.32,0.29,0.35,0.35,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,130,"错义",12220,"0.56=61/108",null,158431,"9q22.33","NM_001001662.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9536",81,34,0.42,{"$nulls":3},"A有","12308A","ZNF790","chr19:37310344","c.902T>C(E5)","p.301,Q>R","rs3745775",0.29,0.24,0.21,0.26,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF790",1,160,"错义",12210,"0.37=47/126",null,388536,"19q13.12","NM_001242800.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31286",31,18,0.58,{"$nulls":3},"A有","12308A","ZNF791","chr19:12740103","m.1922A>T(E4)","非编码区","rs79706280",0.014,0.055,0.043,0.068,null,0.067,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF791",1,150,"非编码区",14100,"0.62=23/37",null,163049,"19p13.2","NM_153358.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13253",26,17,0.65,{"$nulls":3},"A有","12308A","ZNF792","chr19:35448803","m.2343C>A(E4)","非编码区","rs1063235",0.65,0.64,0.67,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"非编码区",14200,"0.67=28/42",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13250",66,38,0.58,{"$nulls":3},"A有","12308A","ZNF792","chr19:35449409","c.1350G>A(E4)","p.450,H>H","rs2651081",0.33,0.19,0.18,0.21,0.25,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"同义",13203,"0.57=63/111",null,126375,"19q13.11","NM_175872.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13254",37,21,0.57,{"$nulls":3},"A有","12308A","ZNF792","chr19:35449760","c.999G>C(E4)","p.333,T>T","rs2651080",0.32,0.19,0.18,0.21,0.24,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"同义",13203,"0.56=31/55",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13252",41,21,0.51,{"$nulls":3},"A有","12308A","ZNF792","chr19:35450229","c.530C>T(E4)","p.177,R>Q","rs2651079",0.63,0.64,0.66,0.62,0.63,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"错义",12220,"0.44=29/66",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13249",8,4,0.5,{"$nulls":3},"A有","12308A","ZNF792","chr19:35454604","m.350A>C(E1)","非编码区","rs2546028",0.64,0.65,0.67,0.63,null,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"非编码区",14200,"0.56=5/9",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13251",8,4,0.5,{"$nulls":3},"A有","12308A","ZNF792","chr19:35454605","m.349A>G(E1)","非编码区","rs2546029",0.64,0.65,0.67,0.63,null,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,86,"非编码区",14200,"0.56=5/9",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v76",134,133,0.99,{"$nulls":3},"A有","12308A","ZNF799","chr19:12502457","c.755A>G(E4)","p.252,L>P","rs4804669",0.72,0.54,0.5,0.58,0.55,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF799",1,270,"错义",12220,"0.99=225/227",null,90576,"19p13.2","NM_001080821.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12991",69,26,0.38,{"$nulls":3},"A有","12308A","ZNF80","chr3:113955164","c.758T>G(E1)","p.253,D>A","rs3732782",0.69,0.56,0.6,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",19217756,{"$nulls":3},5,null,4,0,"ZNF80",1,96,"错义",12220,"0.36=43/118",null,7634,"3q13.3","NM_007136.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12993",77,32,0.42,{"$nulls":3},"A有","12308A","ZNF80","chr3:113955265","c.657G>A(E1)","p.219,C>C","rs6438190",0.69,0.56,0.59,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,96,"同义",13203,"0.39=45/116",null,7634,"3q13.3","NM_007136.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12992",75,34,0.45,{"$nulls":3},"A有","12308A","ZNF80","chr3:113955320","c.602C>T(E1)","p.201,R>H","rs6438191",0.69,0.56,0.59,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,96,"错义",12220,"0.46=61/133",null,7634,"3q13.3","NM_007136.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12994",54,23,0.43,{"$nulls":3},"A有","12308A","ZNF80","chr3:113955820","c.102G>C(E1)","p.34,S>S","rs3732780",0.31,0.38,0.42,0.34,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,96,"同义",13203,"0.41=36/87",null,7634,"3q13.3","NM_007136.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3570",67,67,1,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185800905","c.782A>T(E4)","p.261,Q>L","rs12476147",0.62,0.85,0.88,0.81,0.8,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF804A",1,130,"错义",12220,"1.00=106/106",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3569",41,41,1,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185801747","c.1624G>A(E4)","p.542,E>K","rs4667001",0.49,0.86,0.89,0.83,0.79,0.85,"纯合","无关","有rs号，MAF>=5%","19844207;23155182",{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"错义",12220,"1.00=60/60",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3568",41,40,0.98,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185801755","c.1632A>G(E4)","p.544,T>T","rs4667002",0.79,0.89,0.91,0.87,0.86,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF804A",1,130,"同义",13203,"0.98=60/61",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3571",34,11,0.32,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185801917","c.1794A>G(E4)","p.598,K>K","rs728534",0.16,0.25,0.23,0.26,0.21,0.25,"杂合","无关","有rs号，MAF>=5%",14681825,{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"同义",13203,"0.28=13/47",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3572",137,106,0.77,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185802211-185802212","c.2088(E4)至c.2089(E4):插入ACA","插入非移码","rs5836928",0.49,0.86,0.89,0.83,0.12,0.85,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,9,0,"ZNF804A",1,130,"插入非移码",2221,"0.77=117/152",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3567",110,110,1,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185802243","c.2120C>A(E4)","p.707,T>K","rs1366842",0.49,0.86,0.89,0.83,0.8,0.85,"纯合","无关","有rs号，MAF>=5%","14681825;22871346",{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"错义",12220,"1.00=189/189",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3566",53,53,1,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185802363","c.2240A>G(E4)","p.747,H>R","rs12477430",0.7,0.88,0.9,0.85,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",19844207,{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"错义",12220,"1.00=72/72",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3565",29,17,0.59,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185803364","c.3241C>G(E4)","p.1081,L>V","rs3731834",0.15,0.21,0.2,0.21,0.23,0.21,"杂合","无关","有rs号，MAF>=5%","14681825;22871346;23155182",{"$nulls":3},5,null,9,0,"ZNF804A",1,130,"错义",12220,"0.63=22/35",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3564",46,20,0.43,{"$nulls":3},"A有","12308A","ZNF804A","chr2:185803806","m.4277T>G(E4)","非编码区","rs77067231",0.012,0.065,0.052,0.078,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,9,0,"ZNF804A",1,130,"非编码区",14100,"0.49=38/78",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26708",135,69,0.51,{"$nulls":3},"A有","12308A","ZNF804B","chr7:88956699","c.291A>G(E3)","p.97,V>V","rs38971",0.31,0.69,0.67,0.7,0.67,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,160,"同义",13203,"0.51=125/246",null,219578,"7q21.13","NM_181646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26711",103,103,1,{"$nulls":3},"A有","12308A","ZNF804B","chr7:88963039","c.743G>A(E4)","p.248,C>Y","rs1916830",0.15,0.45,0.44,0.47,0.43,0.46,"纯合","无关","有rs号，MAF>=5%",20547088,{"$nulls":3},5,null,4,0,"ZNF804B",1,160,"错义",12210,"0.99=183/184",null,219578,"7q21.13","NM_181646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26710",73,73,1,{"$nulls":3},"A有","12308A","ZNF804B","chr7:88964000","c.1704C>T(E4)","p.568,F>F","rs801839",0.51,0.68,0.67,0.68,0.59,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,160,"同义",13203,"1.00=101/101",null,219578,"7q21.13","NM_181646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26709",133,133,1,{"$nulls":3},"A有","12308A","ZNF804B","chr7:88964196","c.1900T>A(E4)","p.634,F>I","rs801840",0.52,0.68,0.67,0.68,0.6,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,160,"错义",12220,"1.00=227/227",null,219578,"7q21.13","NM_181646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9040",86,51,0.59,{"$nulls":3},"A有","12308A","ZNF805","chr19:57760018","c.203G>A(E3)","p.68,G>E","rs2014572",0.37,0.19,0.18,0.19,0.22,0.24,"杂合","无关","有rs号，MAF>=5%",18821565,{"$nulls":3},5,null,4,0,"ZNF805",1,190,"错义",12210,"0.63=105/167",null,390980,"19q13.43","NM_001023563.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9038",77,48,0.62,{"$nulls":3},"A有","12308A","ZNF805","chr19:57760057","c.242G>A(E3)","p.81,G>D","rs3746231",0.37,0.17,0.16,0.18,0.19,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF805",1,190,"错义",12220,"0.64=91/143",null,390980,"19q13.43","NM_001023563.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9041",125,51,0.41,{"$nulls":3},"A有","12308A","ZNF805","chr19:57764770","c.583G>A(E4)","p.195,V>I","rs10421632",0.37,0.19,0.18,0.19,0.22,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF805",1,190,"错义",12220,"0.44=89/203",null,390980,"19q13.43","NM_001023563.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9039",93,46,0.49,{"$nulls":3},"A有","12308A","ZNF805","chr19:57765432","c.1245A>G(E4)","p.415,K>K","rs8100154",0.37,0.18,0.18,0.19,0.22,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF805",1,190,"同义",13203,"0.50=85/170",null,390980,"19q13.43","NM_001023563.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v26167",31,24,0.77,{"$nulls":3},"A有","12308A","ZNF808","chr19:53059235","m.3243T>G(E5)","非编码区","rs9676916",0.3,0.5,0.48,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF808",1,220,"非编码区",14200,"0.77=34/44",null,388558,"19q13.41","NM_001039886.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13731",450,130,0.29,{"$nulls":3},"A有","12308A","ZNF813","chr19:53989945","c.75G>A(E3)","p.25,L>L","rs34008652",{"$nulls":4},0.15,0.16,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"同义",13303,"0.27=257/935",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13722",488,260,0.53,{"$nulls":3},"A有","12308A","ZNF813","chr19:53989975","c.105C>T(E3)","p.35,D>D","rs2708793",{"$nulls":4},0.19,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"同义",13303,"0.51=533/1048",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13725",455,116,0.25,{"$nulls":3},"A有","12308A","ZNF813","chr19:53990021","IVS3+9A>G","非编码区","rs201888467",{"$nulls":5},0.097,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"非编码区",16303,"0.26=246/944",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13726",107,107,1,{"$nulls":3},"A有","12308A","ZNF813","chr19:53993670","c.184G>A(E4)","p.62,A>T","rs2617667",0.3,0.24,0.2,0.28,0.21,0.23,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12220,"1.00=196/196",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13727",188,81,0.43,{"$nulls":3},"A有","12308A","ZNF813","chr19:53993988","c.502A>T(E4)","p.168,I>F","rs12460628",0.092,0.11,0.095,0.13,0.098,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12210,"0.43=126/293",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13728",146,72,0.49,{"$nulls":3},"A有","12308A","ZNF813","chr19:53994178","c.692G>A(E4)","p.231,R>K","rs10421308",0.092,0.11,0.095,0.13,0.097,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12220,"0.49=114/231",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13729",151,151,1,{"$nulls":3},"A有","12308A","ZNF813","chr19:53995004","c.1518G>A(E4)","p.506,R>R","rs2708845",0.78,0.64,0.65,0.64,0.6,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"同义",13203,"1.00=261/262",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13723",39,21,0.54,{"$nulls":3},"A有","12308A","ZNF813","chr19:53995530","m.2172A>C(E4)","非编码区","rs10402859",0.093,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.47=31/66",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13730",34,17,0.5,{"$nulls":3},"A有","12308A","ZNF813","chr19:53995691","m.2333A>T(E4)","非编码区","rs2708844",0.22,0.12,0.1,0.15,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.47=22/47",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13721",37,37,1,{"$nulls":3},"A有","12308A","ZNF813","chr19:53995750","m.2392C>T(E4)","非编码区","rs2708843",0.5,0.31,0.28,0.34,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"1.00=55/55",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13732",33,21,0.64,{"$nulls":3},"A有","12308A","ZNF813","chr19:53996130-53996131","m.2772(E4)至m.2773(E4):插入AT","非编码区","rs58474905",0.31,0.24,0.2,0.28,0.034,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"非编码区",2420,"0.63=22/35",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v13724",11,4,0.36,{"$nulls":3},"A有","12308A","ZNF813","chr19:53996295","m.2937C>T(E4)","非编码区","rs10409961",0.091,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.55=11/20",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3413",36,36,1,{"$nulls":3},"A有","12308A","ZNF814","chr19:58383921","m.3109C>T(E3)","非编码区","rs4801239",0.81,0.72,0.76,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF814",1,240,"非编码区",14200,"0.98=63/64",null,730051,"19q13.43","NM_001144989.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3414",201,62,0.31,{"$nulls":3},"A有","12308A","ZNF814","chr19:58384784-58384787","c.1974(E3)至c.1971(E3):缺失TCTT","缺失移码",{"$nulls":6},0.0011,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,5,0,"ZNF814",1,240,"缺失移码",2140,"0.32=69/219",null,730051,"19q13.43","NM_001144989.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3410",187,66,0.35,{"$nulls":3},"A有","12308A","ZNF814","chr19:58385748","c.1010G>A(E3)","p.337,A>V","rs145250945",{"$nulls":4},0.49,0.39,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ZNF814",1,240,"错义",12320,"0.34=118/345",null,730051,"19q13.43","NM_001144989.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3411",180,61,0.34,{"$nulls":3},"A有","12308A","ZNF814","chr19:58385762","c.996C>G(E3)","p.332,S>S","rs199732634",{"$nulls":4},0.48,0.27,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ZNF814",1,240,"同义",13303,"0.34=108/319",null,730051,"19q13.43","NM_001144989.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3412",109,41,0.38,{"$nulls":3},"A有","12308A","ZNF814","chr19:58385954","c.804T>C(E3)","p.268,K>K","rs10412929",0.31,0.45,0.47,0.43,0.45,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF814",1,240,"同义",13203,"0.41=73/178",null,730051,"19q13.43","NM_001144989.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7865",42,20,0.48,{"$nulls":3},"A有","12308A","ZNF816","chr19:53452769","m.2610A>G(E5)","非编码区","rs1044467",0.45,0.32,0.33,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.48=30/62",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7861",63,27,0.43,{"$nulls":3},"A有","12308A","ZNF816","chr19:53452944","m.2435T>G(E5)","非编码区","rs1808106",0.45,0.32,0.33,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.40=36/89",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7860",68,32,0.47,{"$nulls":3},"A有","12308A","ZNF816","chr19:53452965","m.2414C>T(E5)","非编码区","rs3745177",0.35,0.37,0.38,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.44=44/101",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7863",115,55,0.48,{"$nulls":3},"A有","12308A","ZNF816","chr19:53453777","c.1251C>T(E5)","p.417,K>K","rs8110062",{"$nulls":4},0.32,0.34,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"ZNF816",1,200,"同义",13303,"0.46=79/170",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7866",152,51,0.34,{"$nulls":3},"A有","12308A","ZNF816","chr19:53454475-53454476","c.553(E5)至c.552(E5):插入ACT","插入非移码","rs33949217",0.47,0.21,0.24,0.17,0.07,0.4,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,7,0,"ZNF816",1,200,"插入非移码",2222,"0.33=55/166",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7862",125,59,0.47,{"$nulls":3},"A有","12308A","ZNF816","chr19:53454543","c.485G>A(E5)","p.162,S>L","rs11084210",0.15,0.2,0.22,0.18,0.21,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"错义",12210,"0.45=87/195",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v7864",117,57,0.49,{"$nulls":3},"A有","12308A","ZNF816","chr19:53454789","c.239A>T(E5)","p.80,I>N","rs12459008",0.46,0.31,0.33,0.3,0.32,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"错义",12220,"0.45=87/194",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19518",11,6,0.55,{"$nulls":3},"A有","12308A","ZNF821","chr16:71894055","c.1105G>C(E8)","p.369,Q>E","rs200621442",0.0004,0.0048,0.0095,0,null,0.0032,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ZNF821",0.9,67,"错义",12120,"0.64=9/14",null,55565,"16q22.2","NM_001201552.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v19532",6,2,0.33,{"$nulls":3},"A有","12308A","ZNF823","chr19:11832283","m.2192A>G(E4)","非编码区","rs5851",0.52,0.48,0.5,0.46,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF823",1,200,"非编码区",14200,"0.38=3/8",null,55552,"19p13.2","NM_001080493.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v340",97,53,0.55,{"$nulls":3},"A有","12308A","ZNF83","chr19:53117218","c.600G>A(E6)","p.200,T>T","rs150432044",0.0026,0.0024,0.0048,0,null,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF83",1,140,"同义",13103,"0.53=90/171",null,55769,"19q13.3","NM_001105549.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v341",101,54,0.53,{"$nulls":3},"A有","12308A","ZNF83","chr19:53117221","c.597A>G(E6)","p.199,H>H","rs183755365",0.0002,0.0024,0.0048,0,null,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF83",1,140,"同义",13103,"0.51=91/178",null,55769,"19q13.3","NM_001105549.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v342",102,54,0.53,{"$nulls":3},"A有","12308A","ZNF83","chr19:53117224","c.594A>G(E6)","p.198,I>I","rs189613132",0.0002,0.0024,0.0048,0,null,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF83",1,140,"同义",13103,"0.51=91/179",null,55769,"19q13.3","NM_001105549.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3157",26,26,1,{"$nulls":3},"A有","12308A","ZNF830","chr17:33288882","c.297T>G(E1)","p.99,H>Q","rs931196",0.88,0.95,0.95,0.94,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF830",1,75,"错义",12220,"1.00=32/32",null,91603,"17q12","NM_052857.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3158",4,4,1,{"$nulls":3},"A有","12308A","ZNF830","chr17:33289937","m.1389A>T(E1)","非编码区","rs8249",0.55,0.84,0.86,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF830",1,75,"非编码区",14200,"1.00=4/4",null,91603,"17q12","NM_052857.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22001",8,4,0.5,{"$nulls":3},"A有","12308A","ZNF831","chr20:57768594","c.2520C>T(E1)","p.840,S>S","rs144006329",0.0024,0.012,0.0095,0.015,0.039,0.023,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF831",0.91,38,"同义",13103,"0.50=6/12",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22002",45,27,0.6,{"$nulls":3},"A有","12308A","ZNF831","chr20:57829301","c.4537T>C(E5)","p.1513,S>P","rs259956",0.62,0.89,0.89,0.89,0.86,0.89,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF831",0.91,38,"错义",12220,"0.55=44/80",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v22003",44,15,0.34,{"$nulls":3},"A有","12308A","ZNF831","chr20:57829821-57829822","m.5057(E5)至m.5058(E5):插入TT","非编码区","rs528101238",0.62,0.89,0.89,0.89,0.095,0.89,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"ZNF831",0.91,38,"非编码区",2420,"0.30=16/53",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10143",15,5,0.33,{"$nulls":3},"A有","12308A","ZNF835","chr19:57176198","c.369T>G(E2)","p.123,S>S","rs8108756",0.47,0.46,0.45,0.47,0.41,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF835",0.95,16,"同义",13203,"0.33=8/24",null,90485,"19q13.43","NM_001005850.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10146",25,13,0.52,{"$nulls":3},"A有","12308A","ZNF835","chr19:57176304","c.263T>G(E2)","p.88,E>A","rs12460400",0.4,0.46,0.46,0.47,0.44,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF835",0.95,16,"错义",12220,"0.47=23/49",null,90485,"19q13.43","NM_001005850.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10147",34,14,0.41,{"$nulls":3},"A有","12308A","ZNF835","chr19:57176482","c.85C>T(E2)","p.29,E>K","rs12462469",0.41,0.46,0.46,0.47,0.44,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF835",0.95,16,"错义",12220,"0.36=18/50",null,90485,"19q13.43","NM_001005850.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28236",88,40,0.45,{"$nulls":3},"A有","12308A","ZNF836","chr19:52658510","c.2426T>C(E5)","p.809,N>S","rs8113504",0.29,0.4,0.44,0.37,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"错义",12220,"0.42=54/128",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28235",76,75,0.99,{"$nulls":3},"A有","12308A","ZNF836","chr19:52659991","c.945A>G(E5)","p.315,Y>Y","rs1821278",0.5,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"同义",13203,"0.99=131/132",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28237",89,89,1,{"$nulls":3},"A有","12308A","ZNF836","chr19:52660279","c.657C>T(E5)","p.219,M>I","rs1366245",0.48,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"错义",12220,"0.99=149/150",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28238",63,27,0.43,{"$nulls":3},"A有","12308A","ZNF836","chr19:52660783","c.153A>G(E5)","p.51,P>P","rs17696575",0.2,0.19,0.17,0.21,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"同义",13203,"0.46=48/104",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1597",110,52,0.47,{"$nulls":3},"A有","12308A","ZNF839","chr14:102792386","c.5T>C(E2)","p.2,L>P","rs7158731",0.42,0.35,0.3,0.4,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF839",0.9,81,"错义",12220,"0.46=83/181",null,55778,"14q32.31","NM_001267827.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1599",51,31,0.61,{"$nulls":3},"A有","12308A","ZNF839","chr14:102792631","c.250G>A(E2)","p.84,D>N","rs7158139",0.42,0.35,0.3,0.4,0.35,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF839",0.9,81,"错义",12220,"0.59=40/68",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1598",72,36,0.5,{"$nulls":3},"A有","12308A","ZNF839","chr14:102798055","c.940G>A(E3)","p.314,A>T","rs1543540",0.17,0.3,0.25,0.35,0.32,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF839",0.9,81,"错义",12220,"0.45=53/119",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1600",15,3,0.2,{"$nulls":3},"A有","12308A","ZNF839","chr14:102808556-102808562","m.2826(E8)至m.2832(E8):缺失TGGAGCC插入CG","非编码区","rs34220197,rs57469946,rs16414",{"$nulls":4},5.3E-3,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ZNF839",0.9,81,"非编码区",2430,"0.18=3/17",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18126",56,34,0.61,{"$nulls":3},"A有","12308A","ZNF84","chr12:133633536","IVS4-4A>G","剪切位点","rs202097614",{"$nulls":6},"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"ZNF84",1,310,"剪切位点",16302,"0.61=44/72",null,7637,"12q24.33","NM_001127372.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18124",132,131,0.99,{"$nulls":3},"A有","12308A","ZNF84","chr12:133634450","c.1149A>C(E5)","p.383,A>A","rs115172135",{"$nulls":4},1,null,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF84",1,310,"同义",13303,"1.00=206/207",null,7637,"12q24.33","NM_001127372.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v18125",26,26,1,{"$nulls":3},"A有","12308A","ZNF84","chr12:133635613","m.2663T>C(E5)","非编码区","rs114972238",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZNF84",1,310,"非编码区",14300,"1.00=32/32",null,7637,"12q24.33","NM_001127372.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14389",138,60,0.43,{"$nulls":3},"A有","12308A","ZNF844","chr19:12186148","c.213T>C(E4)","p.71,V>V","rs10424893",0.28,0.07,0.09,0.049,0.062,0.14,"杂合","无关","有rs号，MAF>=5%",19087964,{"$nulls":3},5,null,8,0,"ZNF844",1,210,"同义",13203,"0.45=111/245",null,284391,"19p13.2","NM_001136501.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14387",110,62,0.56,{"$nulls":3},"A有","12308A","ZNF844","chr19:12186611","c.676A>G(E4)","p.226,K>E","rs7259684",0.16,0.055,0.071,0.039,0.059,0.063,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"错义",12220,"0.54=96/178",null,284391,"19p13.2","NM_001136501.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14390",141,75,0.53,{"$nulls":3},"A有","12308A","ZNF844","chr19:12186761","c.826A>G(E4)","p.276,T>A","rs7259845",0.29,0.07,0.09,0.049,0.063,0.087,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"错义",12210,"0.53=111/209",null,284391,"19p13.2","NM_001136501.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14394",153,77,0.5,{"$nulls":3},"A有","12308A","ZNF844","chr19:12186857","c.922G>C(E4)","p.308,A>P","rs6511763",0.29,0.07,0.09,0.049,0.063,0.084,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"错义",12220,"0.49=121/247",null,284391,"19p13.2","NM_001136501.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14392",98,50,0.51,{"$nulls":3},"A有","12308A","ZNF844","chr19:12187210","c.1275A>G(E4)","p.425,V>V","rs6511764",0.29,0.07,0.09,0.049,0.064,0.079,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"同义",13203,"0.52=80/154",null,284391,"19p13.2","NM_001136501.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14391",79,36,0.46,{"$nulls":3},"A有","12308A","ZNF844","chr19:12187861","c.1926T>G(E4)","p.642,I>M","rs10426017",0.29,0.07,0.09,0.049,0.064,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"错义",12220,"0.39=48/123",null,284391,"19p13.2","NM_001136501.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14393",66,39,0.59,{"$nulls":3},"A有","12308A","ZNF844","chr19:12188266","m.2474A>G(E4)","非编码区","rs10426455",0.29,0.075,0.095,0.053,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"非编码区",14200,"0.64=72/113",null,284391,"19p13.2","NM_001136501.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14388",70,36,0.51,{"$nulls":3},"A有","12308A","ZNF844","chr19:12188317","m.2525G>A(E4)","非编码区","rs10424345",0.31,0.07,0.09,0.049,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF844",1,210,"非编码区",14200,"0.56=66/118",null,284391,"19p13.2","NM_001136501.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31553",162,162,1,{"$nulls":3},"A有","12308A","ZNF845","chr19:53854397","c.469G>C(E4)","p.157,E>Q","rs10415799",0.34,0.45,0.48,0.43,0.49,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF845",1,220,"错义",12220,"1.00=252/253",null,91664,"19q13.42","NM_138374.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v31554",5,5,1,{"$nulls":3},"A有","12308A","ZNF845","chr19:53858080","m.4269T>C(E4)","非编码区","rs7256235",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF845",1,220,"非编码区",14200,"1.00=10/10",null,91664,"19q13.42","NM_138374.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10969",13,7,0.54,{"$nulls":3},"A有","12308A","ZNF853","chr7:6656830","c.22G>A(E2)","p.8,G>R","rs2243563",0.74,0.76,0.76,0.76,0.72,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF853",0.74,15,"错义",12220,"0.71=15/21",null,54753,"7p22.1","NM_017560.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10967",18,8,0.44,{"$nulls":3},"A有","12308A","ZNF853","chr7:6656897","c.89A>G(E2)","p.30,Q>R","rs1806552",0.77,0.76,0.76,0.77,0.74,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF853",0.74,15,"错义",12220,"0.56=19/34",null,54753,"7p22.1","NM_017560.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v10968",11,4,0.36,{"$nulls":3},"A有","12308A","ZNF853","chr7:6660790","c.168G>A(E3)","p.56,E>E","rs940873",0.41,0.55,0.54,0.55,0.49,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF853",0.74,15,"同义",13203,"0.47=8/17",null,54753,"7p22.1","NM_017560.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11661",62,39,0.63,{"$nulls":3},"A有","12308A","ZNF860","chr3:32030544","m.522C>T(E2)","非编码区","rs11129475",0.39,0.28,0.27,0.29,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"非编码区",14200,"0.60=49/82",null,344787,"3p23","NM_001137674.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11663",123,66,0.54,{"$nulls":3},"A有","12308A","ZNF860","chr3:32031024","c.453C>T(E2)","p.151,I>I","rs4449357",0.43,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"同义",13203,"0.54=107/198",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11660",138,138,1,{"$nulls":3},"A有","12308A","ZNF860","chr3:32031135","c.564A>G(E2)","p.188,S>S","rs6419811",0.47,0.42,0.43,0.4,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"同义",13203,"1.00=231/232",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11654",132,131,0.99,{"$nulls":3},"A有","12308A","ZNF860","chr3:32031615","c.1044A>C(E2)","p.348,E>D","rs13064905",0.47,0.42,0.43,0.4,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12220,"0.99=213/215",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11655",134,134,1,{"$nulls":3},"A有","12308A","ZNF860","chr3:32031622","c.1051T>C(E2)","p.351,F>L","rs13087612",0.47,0.42,0.43,0.4,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12210,"1.00=215/215",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11659",137,137,1,{"$nulls":3},"A有","12308A","ZNF860","chr3:32031643","c.1072A>G(E2)","p.358,T>A","rs13065048",0.47,0.42,0.43,0.41,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12220,"1.00=221/221",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11657",124,55,0.44,{"$nulls":3},"A有","12308A","ZNF860","chr3:32031852","c.1281G>A(E2)","p.427,K>K","rs138977513",0.0074,0.036,0.029,0.044,0.04,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF860",1,200,"同义",13103,"0.42=81/195",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11653",137,74,0.54,{"$nulls":3},"A有","12308A","ZNF860","chr3:32031895","c.1324G>A(E2)","p.442,V>I","rs79295539",0.039,0.14,0.17,0.11,0.16,0.12,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,12,0,"ZNF860",1,200,"错义",12120,"0.52=127/245",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11664",94,94,1,{"$nulls":3},"A有","12308A","ZNF860","chr3:32031962","c.1391A>G(E2)","p.464,H>R","rs1808125",0.62,0.74,0.78,0.71,0.73,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12220,"1.00=153/153",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11658",62,11,0.18,{"$nulls":3},"A有","12308A","ZNF860","chr3:32032029","c.1458G>A(E2)","p.486,E>E","rs4458400",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF860",1,200,"同义",13303,"0.23=22/97",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11662",68,28,0.41,{"$nulls":3},"A有","12308A","ZNF860","chr3:32032397","c.1826G>T(E2)","p.609,R>L","rs4955216",0.43,0.28,0.27,0.29,0.27,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"错义",12220,"0.38=39/104",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11656",7,3,0.43,{"$nulls":3},"A有","12308A","ZNF860","chr3:32032743","m.2721T>G(E2)","非编码区","rs13094125",0.43,0.28,0.27,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF860",1,200,"非编码区",14200,"0.30=3/10",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9949",61,36,0.59,{"$nulls":3},"A有","12308A","ZNF862","chr7:149556518","c.1125C>T(E6)","p.375,A>A","rs4725833",0.53,0.37,0.34,0.4,0.33,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,59,"同义",13203,"0.62=71/114",null,643641,"7q36.1","NM_001099220.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9947",6,6,1,{"$nulls":3},"A有","12308A","ZNF862","chr7:149558409","c.2160G>C(E7)","p.720,L>L","rs2240361",0.38,0.33,0.33,0.33,0.24,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,59,"同义",13203,"1.00=8/8",null,643641,"7q36.1","NM_001099220.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9946",15,15,1,{"$nulls":3},"A有","12308A","ZNF862","chr7:149559273","c.3024C>T(E7)","p.1008,L>L","rs2074700",0.37,0.33,0.33,0.33,0.28,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,59,"同义",13203,"1.00=21/21",null,643641,"7q36.1","NM_001099220.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9948",20,20,1,{"$nulls":3},"A有","12308A","ZNF862","chr7:149559465","c.3216C>T(E7)","p.1072,G>G","rs2074701",0.44,0.33,0.33,0.33,0.29,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,59,"同义",13203,"1.00=37/37",null,643641,"7q36.1","NM_001099220.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2410",116,63,0.54,{"$nulls":3},"A有","12308A","ZNF878","chr19:12154799","c.1417G>C(E4)","p.473,H>D","rs67102109",0.07,0.043,0.057,0.029,0.053,0.047,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF878",1,190,"错义",12210,"0.49=99/200",null,729747,"19p13.2","NM_001080404.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12451",95,94,0.99,{"$nulls":3},"A有","12308A","ZNF879","chr5:178459283","c.334A>G(E5)","p.112,T>A","rs17078988",0.36,0.46,0.49,0.43,0.42,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF879",1,140,"错义",12220,"0.99=156/157",null,345462,"5q35.3","NM_001136116.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12452",98,97,0.99,{"$nulls":3},"A有","12308A","ZNF879","chr5:178459426","c.477A>C(E5)","p.159,E>D","rs17078991",0.36,0.46,0.49,0.43,0.43,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF879",1,140,"错义",12220,"0.99=149/150",null,345462,"5q35.3","NM_001136116.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11921",6,6,1,{"$nulls":3},"A有","12308A","ZNF883","chr9:115760587","m.1192G>A(E5)","非编码区","rs7036363",0.28,0.4,0.39,0.42,null,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF883",1,160,"非编码区",14200,"1.00=6/6",null,169834,"9q32","NM_001101338.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11920",4,4,1,{"$nulls":3},"A有","12308A","ZNF883","chr9:115760610","m.1169T>A(E5)","非编码区","rs11971",0.44,0.4,0.39,0.42,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF883",1,160,"非编码区",14200,"1.00=4/4",null,169834,"9q32","NM_001101338.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9895",79,79,1,{"$nulls":3},"A有","12308A","ZNF90","chr19:20229486","c.1123G>A(E4)","p.375,G>S","rs1725935",0.23,0.5,0.45,0.56,0.55,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF90",1,170,"错义",12210,"1.00=127/127",null,7643,"19p12","NM_007138.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v9894",31,31,1,{"$nulls":3},"A有","12308A","ZNF90","chr19:20230264","m.2040T>A(E4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF90",1,170,"非编码区",14200,"1.00=46/46",null,7643,"19p12","NM_007138.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v27271",7,3,0.43,{"$nulls":3},"A有","12308A","ZNF91","chr19:23541485","m.4409G>A(E4)","非编码区","rs3745111",0.023,0.017,0.0095,0.024,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF91",1,110,"非编码区",14100,"0.33=4/12",null,7644,"19p12","NM_003430.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28602",23,23,1,{"$nulls":3},"A有","12308A","ZNF92","chr7:64864894","m.1883C>T(E3)","非编码区","rs7796776",0.14,0.18,0.19,0.17,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF92",1,170,"非编码区",14200,"1.00=33/33",null,168374,"7q11.21","NM_007139.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15128",59,32,0.54,{"$nulls":3},"A有","12308A","ZNF93","chr19:20011811","m.90T>C(E1)","非编码区","rs7253941",0.24,0.18,0.18,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF93",1,180,"非编码区",14200,"0.57=56/99",null,81931,"19p12","NM_031218.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23207",140,109,0.78,{"$nulls":3},"A有","12308A","ZNF98","chr19:22574818","c.1219T>C(E4)","p.407,K>E","rs201005223",0.34,0.44,0.47,0.41,0.36,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"错义",12210,"0.74=173/233",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23204",117,116,0.99,{"$nulls":3},"A有","12308A","ZNF98","chr19:22575488","c.549C>T(E4)","p.183,K>K","rs7247735",0.4,0.46,0.49,0.42,0.46,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"同义",13203,"0.99=177/178",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23206",271,270,1,{"$nulls":3},"A有","12308A","ZNF98","chr19:22586192","c.153A>G(E2)","p.51,F>F","rs1368476",0.39,0.45,0.48,0.42,0.45,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"同义",13203,"0.99=456/459",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23205",42,42,1,{"$nulls":3},"A有","12308A","ZNF98","chr19:22605103","m.46G>C(E1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"非编码区",14200,"1.00=62/62",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v23208",30,30,1,{"$nulls":3},"A有","12308A","ZNF98","chr19:22605120","m.29G>T(E1)","非编码区","rs11669356",0.34,0.44,0.47,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,200,"非编码区",14200,"1.00=37/37",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15513",35,16,0.46,{"$nulls":3},"A有","12308A","ZNFX1","chr20:47865372","c.4189G>A(E14)","p.1397,L>L","rs238208",0.78,0.56,0.57,0.55,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNFX1",1,110,"同义",13203,"0.54=27/50",null,57169,"20q13.13","NM_021035.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15516",51,21,0.41,{"$nulls":3},"A有","12308A","ZNFX1","chr20:47865509","c.4052G>A(E14)","p.1351,T>I","rs238209",0.6,0.47,0.47,0.48,0.5,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNFX1",1,110,"错义",12220,"0.46=37/80",null,57169,"20q13.13","NM_021035.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15515",116,52,0.45,{"$nulls":3},"A有","12308A","ZNFX1","chr20:47872377","c.2772C>G(E9)","p.924,Q>H","rs238221",0.57,0.43,0.43,0.43,0.45,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNFX1",1,110,"错义",12220,"0.45=104/231",null,57169,"20q13.13","NM_021035.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15514",84,33,0.39,{"$nulls":3},"A有","12308A","ZNFX1","chr20:47886684","c.1665G>A(E3)","p.555,Y>Y","rs57950",0.78,0.56,0.57,0.55,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNFX1",1,110,"同义",13203,"0.39=50/127",null,57169,"20q13.13","NM_021035.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v692",15,15,1,{"$nulls":3},"A有","12308A","ZNHIT2","chr11:64884052","c.1074G>A(E1)","p.358,A>A","rs1546532",0.89,0.9,0.91,0.9,0.84,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT2",0.65,5.9,"同义",13203,"1.00=22/22",null,741,"11q13","NM_014205.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15290",18,18,1,{"$nulls":3},"A有","12308A","ZNHIT3","chr17:34842521","m.49A>G(E1)","非编码区","rs4796224",0.51,0.46,0.49,0.44,null,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT3",1,150,"非编码区",14200,"1.00=27/27",null,9326,"17q12","NM_004773.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17121",5,3,0.6,{"$nulls":3},"A有","12308A","ZNRF4","chr19:5455611","c.109C>T(E1)","p.37,P>S","rs2240743",0.53,0.76,0.76,0.76,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"错义",12220,"0.50=4/8",null,148066,"19p13.3","NM_181710.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17119",2,2,1,{"$nulls":3},"A有","12308A","ZNRF4","chr19:5455735","c.233G>A(E1)","p.78,R>Q","rs2240744",0.2,0.4,0.43,0.37,0.3,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"错义",12220,"1.00=2/2",null,148066,"19p13.3","NM_181710.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17120",3,3,1,{"$nulls":3},"A有","12308A","ZNRF4","chr19:5455796","c.294A>G(E1)","p.98,A>A","rs420325",0.73,0.87,0.85,0.88,0.68,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"同义",13203,"1.00=4/4",null,148066,"19p13.3","NM_181710.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17117",2,2,1,{"$nulls":3},"A有","12308A","ZNRF4","chr19:5455971","c.469G>T(E1)","p.157,A>S","rs8103406",0.54,0.76,0.75,0.77,0.6,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"错义",12220,"1.00=2/2",null,148066,"19p13.3","NM_181710.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17116",2,2,1,{"$nulls":3},"A有","12308A","ZNRF4","chr19:5455978","c.476T>C(E1)","p.159,V>A","rs8107825",0.54,0.76,0.75,0.77,0.61,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"错义",12220,"1.00=2/2",null,148066,"19p13.3","NM_181710.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v17118",44,21,0.48,{"$nulls":3},"A有","12308A","ZNRF4","chr19:5456450","c.948T>C(E1)","p.316,Y>Y","rs8111108",0.7,0.87,0.84,0.89,0.86,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",0.99,21,"同义",13203,"0.51=34/67",null,148066,"19p13.3","NM_181710.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28461",8,8,1,{"$nulls":3},"A有","12308A","ZP1","chr11:60635091","c.57T>C(E1)","p.19,V>V","rs550479",0.96,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,3,1,"ZP1",1,63,"同义",13203,"1.00=14/14",null,22917,"11q12.2","NM_207341.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28462",53,53,1,{"$nulls":3},"A有","12308A","ZP1","chr11:60638461","c.858C>T(E5)","p.286,F>F","rs10897122",0.31,0.66,0.69,0.64,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,3,1,"ZP1",1,63,"同义",13203,"1.00=86/86",null,22917,"11q12.2","NM_207341.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28460",53,53,1,{"$nulls":3},"A有","12308A","ZP1","chr11:60638470","c.867A>G(E5)","p.289,V>V","rs566411",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,3,1,"ZP1",1,63,"同义",13203,"0.99=83/84",null,22917,"11q12.2","NM_207341.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11867",163,74,0.45,{"$nulls":3},"A有","12308A","ZP2","chr16:21217061","c.519G>A(E6)","p.173,D>D","rs16971234",0.28,0.42,0.44,0.39,0.41,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZP2",1,170,"同义",13203,"0.45=125/280",null,7783,"16p12","NM_003460.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11868",108,107,0.99,{"$nulls":3},"A有","12308A","ZP2","chr16:21222672","c.107C>A(E2)","p.36,G>V","rs2075520",0.45,0.46,0.5,0.42,0.46,0.45,"纯合","无关","有rs号，MAF>=5%",17357082,{"$nulls":3},5,null,2,0,"ZP2",1,170,"错义",12220,"0.99=181/182",null,7783,"16p12","NM_003460.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21945",103,48,0.47,{"$nulls":3},"A有","12308A","ZP3","chr7:76069811","c.943T>C(E7)","p.315,S>P","rs2906999",0.59,0.57,0.54,0.61,0.59,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZP3",1,120,"错义",12220,"0.47=80/171",null,7784,"7q11.23","NM_001110354.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15794",66,66,1,{"$nulls":3},"A有","12308A","ZPBP","chr7:50023122","IVS6-7C>T","剪切位点","rs988392",0.78,0.88,0.88,0.89,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZPBP",0.91,290,"剪切位点",16202,"1.00=106/106",null,11055,"7p14.3","NM_001159878.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21827",107,39,0.36,{"$nulls":3},"A有","12308A","ZRANB2","chr1:71537943","IVS5-5A>G","剪切位点","rs11209745",0.36,0.75,0.72,0.79,null,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZRANB2",1,290,"剪切位点",16202,"0.34=53/154",null,9406,"1p31","NM_005455.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4353",61,31,0.51,{"$nulls":3},"A有","12308A","ZRANB3","chr2:135965376","c.2637T>C(E19)","p.879,P>P","rs7578111",0.27,0.19,0.22,0.17,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"同义",13203,"0.50=44/88",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4352",72,33,0.46,{"$nulls":3},"A有","12308A","ZRANB3","chr2:135988127","c.1910T>A(E13)","p.637,E>V","rs59900519",0.28,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"错义",12220,"0.44=52/117",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4350",70,30,0.43,{"$nulls":3},"A有","12308A","ZRANB3","chr2:135988186","c.1851G>A(E13)","p.617,T>T","rs58917764",0.19,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"同义",13203,"0.41=44/108",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4349",80,37,0.46,{"$nulls":3},"A有","12308A","ZRANB3","chr2:135988235","c.1802C>T(E13)","p.601,R>Q","rs76333606",0.077,0.079,0.081,0.078,0.088,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"错义",12220,"0.41=54/133",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v4351",43,16,0.37,{"$nulls":3},"A有","12308A","ZRANB3","chr2:135988416","c.1621C>T(E13)","p.541,E>K","rs935615",0.27,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,220,"错义",12220,"0.40=33/82",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12800",103,103,1,{"$nulls":3},"A有","12308A","ZRSR2","chrX:15838366","c.864C>T(E10)","p.288,N>N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,120,"同义",13303,"0.99=197/198",null,8233,"Xp22.1","NM_005089.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21832",10,5,0.5,{"$nulls":3},"A有","12308A","ZSCAN1","chr19:58565431","m.1486C>T(E6)","非编码区","rs8104122",0.26,0.29,0.27,0.32,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN1",1,21,"非编码区",14200,"0.50=7/14",null,284312,"19q13.43","NM_182572.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1391",20,8,0.4,{"$nulls":3},"A有","12308A","ZSCAN12","chr6:28358116-28358117","m.2130(E4)至m.2129(E4):插入A","非编码区","rs150686870",0.1,0.12,0.1,0.13,0.024,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,6,0,"ZSCAN12",1,140,"非编码区",2420,"0.36=8/22",null,9753,"6p21","NM_001163391.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1388",137,63,0.46,{"$nulls":3},"A有","12308A","ZSCAN12","chr6:28358320","c.1747A>G(E4)","p.583,C>R","rs1361385",0.39,0.25,0.2,0.3,0.24,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZSCAN12",1,140,"错义",12210,"0.42=98/235",null,9753,"6p21","NM_001163391.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1389",132,57,0.43,{"$nulls":3},"A有","12308A","ZSCAN12","chr6:28358335","c.1732G>C(E4)","p.578,R>G","rs1416918",0.39,0.25,0.2,0.3,0.24,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZSCAN12",1,140,"错义",12220,"0.39=88/223",null,9753,"6p21","NM_001163391.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1390",36,17,0.47,{"$nulls":3},"A有","12308A","ZSCAN12","chr6:28358893","c.1174T>C(E4)","p.392,N>D","rs2232434",0.1,0.12,0.1,0.13,0.097,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZSCAN12",1,140,"错义",12220,"0.52=24/46",null,9753,"6p21","NM_001163391.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1385",76,75,0.99,{"$nulls":3},"A有","12308A","ZSCAN12","chr6:28359170","c.897A>G(E4)","p.299,D>D","rs2859348",0.64,0.58,0.58,0.59,0.62,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZSCAN12",1,140,"同义",13203,"0.99=120/121",null,9753,"6p21","NM_001163391.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v1386",87,39,0.45,{"$nulls":3},"A有","12308A","ZSCAN12","chr6:28359186","c.881C>T(E4)","p.294,R>K","rs2232430",0.11,0.26,0.32,0.19,0.27,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZSCAN12",1,140,"错义",12220,"0.37=49/132",null,9753,"6p21","NM_001163391.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6373",118,116,0.98,{"$nulls":3},"A有","12308A","ZSCAN2","chr15:85149771","c.418G>T(E3)","p.140,V>F","rs2271433",0.91,0.95,0.93,0.97,0.95,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,89,"错义",12220,"0.99=201/204",null,54993,"15q25.2","NM_017894.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6372",69,69,1,{"$nulls":3},"A有","12308A","ZSCAN2","chr15:85163998","c.572G>C(E3)","p.191,S>T","rs2044502",0.88,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,89,"错义",12220,"0.99=98/99",null,54993,"15q25.2","NM_181877.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3598",42,23,0.55,{"$nulls":3},"A有","12308A","ZSCAN20","chr1:33957130","c.1272C>A(E6)","p.424,A>A","rs3795419",0.19,0.38,0.37,0.39,0.41,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,100,"同义",13203,"0.51=34/67",null,7579,"1p34.3","NM_145238.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3599",48,47,0.98,{"$nulls":3},"A有","12308A","ZSCAN20","chr1:33957152","c.1294T>G(E6)","p.432,Y>D","rs4403594",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,100,"错义",12230,"0.97=77/79",null,7579,"1p34.3","NM_145238.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3601",128,127,0.99,{"$nulls":3},"A有","12308A","ZSCAN20","chr1:33960062","c.2118A>G(E8)","p.706,A>A","rs9943259",0.75,0.75,0.76,0.75,0.79,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,100,"同义",13203,"0.99=209/211",null,7579,"1p34.3","NM_145238.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3600",12,12,1,{"$nulls":3},"A有","12308A","ZSCAN20","chr1:33961147","m.3370T>G(E8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,100,"非编码区",14200,"1.00=18/18",null,7579,"1p34.3","NM_145238.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11204",77,37,0.48,{"$nulls":3},"A有","12308A","ZSCAN23","chr6:28402260","c.1152T>C(E4)","p.384,P>P","rs17315648",0.11,0.12,0.1,0.14,0.11,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN23",1,85,"同义",13203,"0.47=59/125",null,222696,"6p22.1","NM_001012455.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11203",37,23,0.62,{"$nulls":3},"A有","12308A","ZSCAN23","chr6:28403629","IVS2+7T>C","非编码区","rs57126418",0.11,0.12,0.1,0.14,null,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN23",1,85,"非编码区",16203,"0.67=39/58",null,222696,"6p22.1","NM_001012455.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v5279",93,44,0.47,{"$nulls":3},"A有","12308A","ZSCAN29","chr15:43661802","c.310T>C(E1)","p.104,R>G","rs3809482",0.55,0.5,0.48,0.53,0.45,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN29",1,100,"错义",12220,"0.46=78/169",null,146050,"15q15.3","NM_152455.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v20103",4,3,0.75,{"$nulls":3},"A有","12308A","ZSCAN5A","chr19:56736551-56736552","IVS1-9至IVS1-10:插入A","非编码区","rs79216979",0.3,0.51,0.54,0.48,0.031,null,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"ZSCAN5A",1,95,"非编码区",2500,"0.75=3/4",null,79149,"19q13.43","NM_024303.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2300",87,45,0.52,{"$nulls":3},"A有","12308A","ZSCAN5B","chr19:56702323","c.622C>T(E3)","p.208,V>I","rs4801296",0.48,0.41,0.45,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"错义",12220,"0.51=75/148",null,342933,"19q13.43","NM_001080456.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2302",13,6,0.46,{"$nulls":3},"A有","12308A","ZSCAN5B","chr19:56703248","c.559G>A(E2)","p.187,P>S","rs527025",0.25,0.29,0.26,0.32,0.27,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"错义",12210,"0.37=7/19",null,342933,"19q13.43","NM_001080456.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2299",42,20,0.48,{"$nulls":3},"A有","12308A","ZSCAN5B","chr19:56704101","c.321G>A(E1)","p.107,N>N","rs11084427",0.21,0.29,0.26,0.32,0.26,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"同义",13203,"0.48=28/58",null,342933,"19q13.43","NM_001080456.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2298",67,33,0.49,{"$nulls":3},"A有","12308A","ZSCAN5B","chr19:56704260","c.162C>T(E1)","p.54,E>E","rs61742908",0.084,0.28,0.28,0.28,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"同义",13203,"0.53=60/114",null,342933,"19q13.43","NM_001080456.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v2301",30,15,0.5,{"$nulls":3},"A有","12308A","ZSCAN5B","chr19:56704399","c.23G>A(E1)","p.8,S>L","rs61745809",0.083,0.27,0.28,0.26,0.25,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN5B",1,92,"错义",12210,"0.58=25/43",null,342933,"19q13.43","NM_001080456.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v14317",100,100,1,{"$nulls":3},"A有","12308A","ZSWIM2","chr2:187698751","c.750G>A(E6)","p.250,T>T","rs7559533",0.2,0.099,0.09,0.11,0.12,0.12,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM2",1,200,"同义",13203,"1.00=174/174",null,151112,"2q32.1","NM_182521.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3556",81,35,0.43,{"$nulls":3},"A有","12308A","ZSWIM3","chr20:44505830","c.633C>T(E2)","p.211,T>T","rs61733888",0.088,0.089,0.086,0.092,0.04,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"同义",13203,"0.45=60/134",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3560",32,32,1,{"$nulls":3},"A有","12308A","ZSWIM3","chr20:44505973","c.776T>C(E2)","p.259,V>A","rs2903808",0.56,0.55,0.55,0.56,0.51,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"错义",12220,"1.00=39/39",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3557",27,16,0.59,{"$nulls":3},"A有","12308A","ZSWIM3","chr20:44506418","c.1221G>A(E2)","p.407,R>R","rs1045493",0.48,0.46,0.46,0.47,0.47,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"同义",13203,"0.63=22/35",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3559",25,13,0.52,{"$nulls":3},"A有","12308A","ZSWIM3","chr20:44506661","c.1464G>A(E2)","p.488,P>P","rs17446462",0.088,0.089,0.086,0.092,0.041,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"同义",13203,"0.58=21/36",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v3558",25,11,0.44,{"$nulls":3},"A有","12308A","ZSWIM3","chr20:44507307","m.2355T>C(E2)","非编码区","rs17446511",0.088,0.089,0.086,0.092,null,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSWIM3",1,64,"非编码区",14200,"0.39=16/41",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v6965",92,38,0.41,{"$nulls":3},"A有","12308A","ZSWIM5","chr1:45504720","c.1782G>C(E8)","p.594,T>T","rs7551698",0.51,0.51,0.46,0.55,0.47,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM5",0.92,84,"同义",13203,"0.37=63/170",null,57643,"1p34.1","NM_020883.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v21537",64,64,1,{"$nulls":3},"A有","12308A","ZSWIM6","chr5:60839907","c.3411C>A(E14)","p.1137,P>P","rs16892374",0.075,0.13,0.14,0.13,0.14,0.13,"纯合","无关","有rs号，MAF>=5%",null,"肢端额鼻骨发育不良","AD",603671,5,1,1,1,"ZSWIM6",0.81,130,"同义",13203,"1.00=99/99",null,57688,"5q12.1","NM_020928.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v11881",161,75,0.47,{"$nulls":3},"A有","12308A","ZUFSP","chr6:116973182","c.1135T>C(E6)","p.379,N>D","rs4946188",0.41,0.26,0.24,0.29,0.29,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZUFSP",1,250,"错义",12220,"0.46=127/279",null,221302,"6q22.1","NM_145062.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28539",144,70,0.49,{"$nulls":3},"A有","12308A","ZW10","chr11:113609079","c.1791T>C(E13)","p.597,K>K","rs77970040",1.8E-3,0.017,0.0048,0.029,0.0034,0.0088,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZW10",1,200,"同义",13103,"0.50=123/247",null,9183,"11q23.2","NM_004724.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v28423",129,65,0.5,{"$nulls":3},"A有","12308A","ZWILCH","chr15:66832466","c.1605A>G(E17)","p.535,I>M","rs75532475",0.079,0.024,0.029,0.019,0.039,0.047,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZWILCH",1,280,"错义",12220,"0.51=125/243",null,55055,"15q22.31","NM_017975.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25505",65,27,0.42,{"$nulls":3},"A有","12308A","ZWINT","chr10:58118630","c.559T>C(E6)","p.187,R>G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,1,0,"ZWINT",1,80,"错义",12210,"0.45=56/124",null,11130,"10q21-q22","NM_007057.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v15526",41,41,1,{"$nulls":3},"A有","12308A","ZXDB","chrX:57619648","c.1167G>T(E1)","p.389,P>P","rs1057328",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZXDB",0.67,46,"同义",13303,"0.99=68/69",null,158586,"Xp11.21","NM_007157.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v25527",20,20,1,{"$nulls":3},"A有","12308A","ZXDC","chr3:126181071","IVS5-8A>C","剪切位点","rs6775965",0.22,0.34,0.34,0.33,null,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZXDC",0.83,51,"剪切位点",16202,"1.00=27/27",null,79364,"3q21.3","NM_001040653.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12400",84,41,0.49,{"$nulls":3},"A有","12308A","ZYG11A","chr1:53320274","c.228G>T(E2)","p.76,E>D","rs480299",0.59,0.25,0.23,0.28,0.28,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZYG11A",1,160,"错义",12220,"0.49=71/144",null,440590,"1p32.3","NM_001004339.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v12399",98,53,0.54,{"$nulls":3},"A有","12308A","ZYG11A","chr1:53333392","IVS7-7C>T","剪切位点","rs79762797",0.052,0.2,0.19,0.21,0.21,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZYG11A",1,160,"剪切位点",16202,"0.56=97/173",null,440590,"1p32.3","NM_001004339.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29906",2,2,1,{"$nulls":3},"A有","12308A","ZYG11B","chr1:53192177","m.47C>T(E1)","非编码区","rs57287578",0.035,0.17,0.17,0.17,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZYG11B",0.99,160,"非编码区",14100,"1.00=5/5",null,79699,"1p32.3","NM_024646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29905",2,2,1,{"$nulls":3},"A有","12308A","ZYG11B","chr1:53192187","m.57C>T(E1)","非编码区","rs269298",0.85,0.62,0.59,0.66,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZYG11B",0.99,160,"非编码区",14200,"1.00=3/3",null,79699,"1p32.3","NM_024646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v29904",65,65,1,{"$nulls":3},"A有","12308A","ZYG11B","chr1:53250650","c.1194G>A(E5)","p.398,G>G","rs6588443",0.71,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZYG11B",0.99,160,"同义",13203,"1.00=110/110",null,79699,"1p32.3","NM_024646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24524",33,17,0.52,{"$nulls":3},"A有","12308A","ZZEF1","chr17:3910125","m.9009A>G(E55)","非编码区","rs62072392",0.14,0.082,0.071,0.092,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"非编码区",14200,"0.51=31/61",null,23140,"17p13.2","NM_015113.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24522",170,85,0.5,{"$nulls":3},"A有","12308A","ZZEF1","chr17:3947644","c.6040T>C(E38)","p.2014,I>V","rs781831",0.52,0.33,0.32,0.33,0.34,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"错义",12220,"0.50=153/305",null,23140,"17p13.2","NM_015113.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24521",81,29,0.36,{"$nulls":3},"A有","12308A","ZZEF1","chr17:3953083","c.5934T>C(E37)","p.1978,P>P","rs781853",0.46,0.22,0.18,0.25,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"同义",13203,"0.34=49/145",null,23140,"17p13.2","NM_015113.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24523",78,27,0.35,{"$nulls":3},"A有","12308A","ZZEF1","chr17:3953102","c.5915A>G(E37)","p.1972,L>P","rs781852",0.48,0.22,0.19,0.25,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",17134496,{"$nulls":3},5,null,8,0,"ZZEF1",0.96,130,"错义",12220,"0.32=45/141",null,23140,"17p13.2","NM_015113.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24528",101,54,0.53,{"$nulls":3},"A有","12308A","ZZEF1","chr17:3966064","c.4866A>G(E30)","p.1622,C>C","rs781825",0.47,0.22,0.19,0.25,0.26,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"同义",13203,"0.53=87/164",null,23140,"17p13.2","NM_015113.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12308A(99)v24527",30,11,0.37,{"$nulls":3},"A有","12308A","ZZEF1","chr17:3979949","c.3216G>A(E21)","p.1072,P>P","rs7207986",0.17,0.15,0.12,0.18,0.15,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZZEF1",0.96,130,"同义",13203,"0.32=17/53",null,23140,"17p13.2","NM_015113.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
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