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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)"]
["12307A(99)v6657",10,10,1,"12307A","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,{"$nulls":3},5,null,2,0,"A1BG",0.89,11,"错义",12220,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12307A(99)v6658",13,12,0.92,"12307A","A1BG","chr19:58858232-58858232","m.1706(E8):缺失C","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"A1BG",0.89,11,"非编码区",2420,"0.92=12/13","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12307A(99)v8389",122,46,0.38,"12307A","A1CF","chr10:52566594","c.1656G>C(E14)","p.552,L>L","rs34190540",0.042,0.12,0.11,0.14,0.11,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"A1CF",1,250,"同义",13103,"0.40=90/223","位于基因组单拷贝区域+DNA结构正常",29974,"10q11.23","NM_001198818.1"]
["12307A(99)v16247",102,102,1,"12307A","A2M","chr12:9248233","c.1915T>C(E16)","p.639,N>D","rs226405",null,1,1,1,0.97,1,"纯合","未知","未知",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,1,2,"A2M",1,240,"错义",12330,"1.00=194/194","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12307A(99)v16247",102,102,1,"12307A","A2M","chr12:9248233","c.1915T>C(E16)","p.639,N>D","rs226405",null,1,1,1,0.97,1,"纯合","未知","未知",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,1,2,"A2M",1,240,"错义",12330,"1.00=194/194","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12307A(99)v24269",152,152,1,"12307A","A2ML1","chr12:9013755","c.3364C>T(E28)","p.1122,R>W","rs1860967",null,0.83,0.83,0.83,0.77,0.78,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"A2ML1",1,180,"错义",12320,"1.00=272/273","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12307A(99)v24270",128,128,1,"12307A","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",{"$nulls":4},4,null,5,0,"A2ML1",1,180,"同义",13303,"1.00=235/235","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12307A(99)v24271",46,46,1,"12307A","A2ML1","chr12:9016573","c.3686A>G(E29)","p.1229,H>R","rs10219561",null,1,1,1,0.96,1,"纯合","未知","未知",{"$nulls":4},3,null,5,0,"A2ML1",1,180,"错义",12330,"1.00=81/81","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12307A(99)v24272",61,61,1,"12307A","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",{"$nulls":4},3,null,5,0,"A2ML1",1,180,"错义",12320,"0.99=108/109","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12307A(99)v24273",91,91,1,"12307A","A2ML1","chr12:9004892","c.2550C>A(E20)","p.850,D>E","rs1860926",null,1,1,1,0.99,1,"纯合","未知","未知",{"$nulls":4},3,null,5,0,"A2ML1",1,180,"错义",12330,"1.00=150/150","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12307A(99)v16528",29,29,1,"12307A","A4GALT","chr22:43089055","c.903G>C(E3)","p.301,P>P","rs6002904",0.7,0.68,0.69,0.67,0.65,0.72,"纯合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,1,3,1,"A4GALT",1,24,"同义",13203,"1.00=49/49","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436.4"]
["12307A(99)v16529",7,4,0.57,"12307A","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,111400,5,2,3,1,"A4GALT",1,24,"错义",12220,"0.64=7/11","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436.4"]
["12307A(99)v16530",11,5,0.45,"12307A","A4GALT","chr22:43088971","c.987C>T(E3)","p.329,T>T","rs9623659",0.35,0.14,0.16,0.12,0.15,0.15,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,3,1,"A4GALT",1,24,"同义",13203,"0.50=7/14","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436.4"]
["12307A(99)v27",7,4,0.57,"12307A","A4GNT","chr3:137843018","m.1313G>C(E3)","非编码区","rs1564496",null,0.69,0.68,0.71,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A4GNT",1,130,"非编码区",14300,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12307A(99)v28",58,32,0.55,"12307A","A4GNT","chr3:137850003","c.96A>G(E2)","p.32,C>C","rs2724691",0.61,0.6,0.6,0.6,0.54,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,130,"同义",13203,"0.51=44/86","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12307A(99)v29",39,22,0.56,"12307A","A4GNT","chr3:137843106","c.1023T>C(E3)","p.341,X>X","rs2170309",0.65,0.69,0.68,0.71,0.67,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,130,"同义",13203,"0.49=29/59","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12307A(99)v30",87,40,0.46,"12307A","A4GNT","chr3:137843476","c.653G>T(E3)","p.218,A>D","rs2246945",0.65,0.69,0.68,0.71,0.68,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,130,"错义",12220,"0.47=68/146","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12307A(99)v18056",48,48,1,"12307A","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",1,100,"同义",13203,"1.00=78/78","位于基因组单拷贝区域+DNA结构正常",8086,"12q13","NM_001173466.1"]
["12307A(99)v5",19,8,0.42,"12307A","AACS","chr12:125621419","IVS17+9A>G","非编码区","rs41473449",0.37,0.55,0.57,0.53,null,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AACS",1,120,"非编码区",16203,"0.43=10/23","位于基因组多拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928.3"]
["12307A(99)v28009",72,42,0.58,"12307A","AADAC","chr3:151545601","c.841G>A(E5)","p.281,V>I","rs1803155",0.73,0.58,0.53,0.63,0.59,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AADAC",1,180,"错义",12220,"0.58=66/113","位于基因组多拷贝区域+DNA结构正常",13,"3q25.1","NM_001086.2"]
["12307A(99)v12306",132,132,1,"12307A","AADACL2","chr3:151463421","c.556G>T(E4)","p.186,A>S","rs1972977",0.71,0.62,0.68,0.57,0.61,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AADACL2",1,220,"错义",12220,"0.99=217/219","位于基因组单拷贝区域+DNA结构正常",344752,"3q25.1","NM_207365.3"]
["12307A(99)v6389",97,97,1,"12307A","AADACL3","chr1:12779618","c.139T>C(E2)","p.47,S>P","rs3010877",0.85,0.8,0.8,0.79,0.81,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"错义",12220,"0.99=161/163","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170.1"]
["12307A(99)v6390",16,8,0.5,"12307A","AADACL3","chr1:12776161","m.44G>A(E1)","非编码区","rs80277373",0.03,0.043,0.043,0.044,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,13,0,"AADACL3",1,160,"非编码区",14100,"0.50=9/18","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6391",2,2,1,"12307A","AADACL3","chr1:12788411","m.3517C>T(E3)","非编码区","rs59335617",0.03,0.053,0.057,0.049,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,13,0,"AADACL3",1,160,"非编码区",14100,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6392",2,2,1,"12307A","AADACL3","chr1:12788406","m.3512G>A(E3)","非编码区","rs3000929",0.83,0.79,0.8,0.79,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6393",93,48,0.52,"12307A","AADACL3","chr1:12776344","c.1A>T(E1)","p.1,M>L","rs3000859",0.66,0.66,0.69,0.63,0.63,0.64,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"错义",18220,"0.53=77/145","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6394",117,117,1,"12307A","AADACL3","chr1:12785494","c.374G>T(E3)","p.125,C>F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"错义",12210,"0.99=199/201","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6395",94,94,1,"12307A","AADACL3","chr1:12779560","c.81T>C(E2)","p.27,D>D","rs3010876",0.85,0.79,0.8,0.79,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"同义",13203,"0.99=161/163","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170.1"]
["12307A(99)v6396",11,5,0.45,"12307A","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%",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"非编码区",14200,"0.46=6/13","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6397",1,1,1,"12307A","AADACL3","chr1:12786363","m.1469C>T(E3)","非编码区","rs3010886",0.7,0.79,0.8,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6398",52,52,1,"12307A","AADACL3","chr1:12776218","m.101A>C(E1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"非编码区",14200,"1.00=77/77","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6399",97,97,1,"12307A","AADACL3","chr1:12779563","c.84C>T(E2)","p.28,P>P","rs78912772",0.028,0.055,0.062,0.049,0.049,0.044,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"AADACL3",1,160,"同义",13103,"0.99=166/167","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170.1"]
["12307A(99)v6400",128,127,0.99,"12307A","AADACL3","chr1:12785295","c.175C>T(E3)","p.59,R>W","rs17038445",0.014,0.046,0.052,0.039,0.046,0.048,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,13,0,"AADACL3",1,160,"错义",12110,"0.98=226/230","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v6401",8,8,1,"12307A","AADACL3","chr1:12786070","m.1176A>G(E3)","非编码区","rs3000930",0.76,0.79,0.8,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"AADACL3",1,160,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12307A(99)v29558",170,169,0.99,"12307A","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%",{"$nulls":4},5,null,2,0,"AADAT",1,310,"剪切位点",16202,"1.00=288/289","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228.3"]
["12307A(99)v29559",241,70,0.29,"12307A","AADAT","chr4:170991812-170991815","IVS5-9至IVS5-12:缺失GGTT","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"AADAT",1,310,"非编码区",2500,"0.29=82/281","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228.3"]
["12307A(99)v30738",193,192,0.99,"12307A","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",1,290,"错义",12220,"0.99=354/356","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666.3"]
["12307A(99)v30739",1,1,1,"12307A","AAGAB","chr15:67494792","m.1420C>T(E10)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",null,"IA型点状掌跖角皮病","AD",148600,3,1,3,1,"AAGAB",1,290,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666.3"]
["12307A(99)v30740",4,4,1,"12307A","AAGAB","chr15:67494922","m.1290T>C(E10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,290,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666.3"]
["12307A(99)v19781",65,65,1,"12307A","AAK1","chr2:69741854","c.1525T>G(E13)","p.509,K>Q","rs6715776",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAK1",1,190,"错义",12230,"1.00=122/122","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12307A(99)v19782",6,6,1,"12307A","AAK1","chr2:69741609","c.1770C>T(E13)","p.590,E>E","rs2276689",0.32,0.52,0.53,0.51,0.45,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAK1",1,190,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12307A(99)v30200",7,7,1,"12307A","AAMP","chr2:219129060","m.1585A>G(E11)","非编码区","rs2382816",0.96,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AAMP",1,62,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",14,"2q35","NM_001087.3"]
["12307A(99)v8418",48,22,0.46,"12307A","AARD","chr8:117955005","m.552C>T(E2)","非编码区","rs4629901",0.22,0.34,0.33,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AARD",0.91,92,"非编码区",14200,"0.49=33/68","位于基因组多拷贝区域+DNA结构正常",441376,"8q24.11","NM_001025357.2"]
["12307A(99)v23817",37,37,1,"12307A","AARS","chr16:70287177","c.2715A>G(E20)","p.905,V>V","rs4081753",0.88,0.96,0.97,0.95,0.94,0.97,"纯合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,150,"同义",13203,"1.00=69/69","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605.2"]
["12307A(99)v23818",36,18,0.5,"12307A","AARS","chr16:70303580","c.903G>A(E7)","p.301,H>H","rs2070203",0.43,0.37,0.4,0.33,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,150,"同义",13203,"0.53=35/66","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605.2"]
["12307A(99)v13988",13,5,0.38,"12307A","AARS2","chr6:44280812","IVS1+6C>T","剪切位点","rs167772",0.45,0.43,0.44,0.42,0.31,0.39,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,7,2,"AARS2",1,59,"剪切位点",16202,"0.36=9/25","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13988",13,5,0.38,"12307A","AARS2","chr6:44280812","IVS1+6C>T","剪切位点","rs167772",0.45,0.43,0.44,0.42,0.31,0.39,"杂合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,7,2,"AARS2",1,59,"剪切位点",16202,"0.36=9/25","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13989",11,1,0.09,"12307A","AARS2","chr6:44269894","c.2501G>T(E19)","p.834,A>D",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"联合氧化磷酸化缺陷8型","AR",614096,2,3,7,2,"AARS2",1,59,"错义",12410,"0.12=2/17","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13989",11,1,0.09,"12307A","AARS2","chr6:44269894","c.2501G>T(E19)","p.834,A>D",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"进行性脑白质病伴卵巢早衰","AR",615889,2,3,7,2,"AARS2",1,59,"错义",12410,"0.12=2/17","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13990",12,12,1,"12307A","AARS2","chr6:44268371","c.2871T>C(E22)","p.957,S>S","rs325008",null,1,1,1,0.92,1,"纯合","未知","预测范围之外的同义突变",null,"联合氧化磷酸化缺陷8型","AR",614096,4,1,7,2,"AARS2",1,59,"同义",13303,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13990",12,12,1,"12307A","AARS2","chr6:44268371","c.2871T>C(E22)","p.957,S>S","rs325008",null,1,1,1,0.92,1,"纯合","未知","预测范围之外的同义突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,4,1,7,2,"AARS2",1,59,"同义",13303,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13991",2,2,1,"12307A","AARS2","chr6:44268135","m.3110C>T(E22)","非编码区","rs325009",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,7,2,"AARS2",1,59,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13991",2,2,1,"12307A","AARS2","chr6:44268135","m.3110C>T(E22)","非编码区","rs325009",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,7,2,"AARS2",1,59,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13992",24,1,0.04,"12307A","AARS2","chr6:44270207","c.2408G>A(E18)","p.803,A>V",{"$nulls":6},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"联合氧化磷酸化缺陷8型","AR",614096,3,3,7,2,"AARS2",1,59,"错义",12420,"0.10=4/40","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13992",24,1,0.04,"12307A","AARS2","chr6:44270207","c.2408G>A(E18)","p.803,A>V",{"$nulls":6},0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"进行性脑白质病伴卵巢早衰","AR",615889,3,3,7,2,"AARS2",1,59,"错义",12420,"0.10=4/40","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13993",23,11,0.48,"12307A","AARS2","chr6:44269193","c.2607C>T(E20)","p.869,K>K","rs498512",0.58,0.44,0.46,0.43,0.42,0.42,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,7,2,"AARS2",1,59,"同义",13203,"0.44=16/36","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13993",23,11,0.48,"12307A","AARS2","chr6:44269193","c.2607C>T(E20)","p.869,K>K","rs498512",0.58,0.44,0.46,0.43,0.42,0.42,"杂合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,7,2,"AARS2",1,59,"同义",13203,"0.44=16/36","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13994",19,19,1,"12307A","AARS2","chr6:44275011","c.1015T>C(E6)","p.339,I>V","rs324136",0.89,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,7,2,"AARS2",1,59,"错义",12230,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v13994",19,19,1,"12307A","AARS2","chr6:44275011","c.1015T>C(E6)","p.339,I>V","rs324136",0.89,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,7,2,"AARS2",1,59,"错义",12230,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12307A(99)v6253",79,79,1,"12307A","AARSD1","chr17:41116234","c.60G>A(E2)","p.20,S>S","rs690941",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AARSD1",1,170,"同义",13203,"1.00=117/117","位于基因组单拷贝区域+DNA结构正常",80755,"17q21.31","NM_001261434.1"]
["12307A(99)v12251",120,50,0.42,"12307A","AASDH","chr4:57248716","c.278G>C(E3)","p.93,P>R","rs34228795",0.065,0.18,0.21,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12210,"0.38=86/228","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12307A(99)v12252",147,57,0.39,"12307A","AASDH","chr4:57219613","c.1533C>T(E9)","p.511,P>P","rs17086696",0.23,0.19,0.17,0.21,0.13,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"同义",13203,"0.41=114/275","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12307A(99)v12253",92,48,0.52,"12307A","AASDH","chr4:57221348","c.1103T>C(E6)","p.368,K>R","rs3796543",0.065,0.18,0.21,0.16,0.2,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.50=69/139","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12307A(99)v12254",129,51,0.4,"12307A","AASDH","chr4:57219592","c.1554G>A(E9)","p.518,D>D","rs6554348",0.65,0.54,0.53,0.55,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"同义",13203,"0.42=105/249","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12307A(99)v12255",95,50,0.53,"12307A","AASDH","chr4:57204777","c.3088A>C(E15)","p.1030,Y>D","rs8340",0.23,0.19,0.17,0.2,0.14,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.55=99/181","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12307A(99)v12256",155,65,0.42,"12307A","AASDH","chr4:57211352","c.2593T>C(E12)","p.865,T>A","rs12498340",0.22,0.19,0.17,0.2,0.16,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.47=136/288","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12307A(99)v12257",165,69,0.42,"12307A","AASDH","chr4:57250285","c.181T>C(E2)","p.61,I>V","rs34543011",0.065,0.18,0.21,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.43=133/312","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12307A(99)v26108",302,1,0,"12307A","AASS","chr7:121758620-121758620","c.537(E5):缺失A","缺失移码",{"$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",null,"高赖氨酸血症","AR",238700,1,3,1,2,"AASS",1,280,"缺失移码",2140,"0.01=2/325","位于基因组单拷贝区域+DNA结构正常",10157,"7q31.3","NM_005763.3"]
["12307A(99)v26108",302,1,0,"12307A","AASS","chr7:121758620-121758620","c.537(E5):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"酵母氨酸尿症","AR",268700,1,3,1,2,"AASS",1,280,"缺失移码",2140,"0.01=2/325","位于基因组单拷贝区域+DNA结构正常",10157,"7q31.3","NM_005763.3"]
["12307A(99)v21568",58,32,0.55,"12307A","AATF","chr17:35346641","c.1245T>C(E7)","p.415,S>S","rs1045056",0.16,0.017,0.0048,0.029,0.026,0.039,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AATF",0.95,240,"同义",13203,"0.56=52/93","位于基因组单拷贝区域+DNA结构正常",26574,"17q12","NM_012138.3"]
["12307A(99)v24085",10,1,0.1,"12307A","AATK","chr17:79108224","c.133C>T(E2)","p.45,V>I","rs201194092",0.0002,0,0,0,null,0.00059,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"AATK",0.65,4.6,"错义",12120,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395.2"]
["12307A(99)v24086",2,2,1,"12307A","AATK","chr17:79095144","c.2592G>A(E11)","p.864,A>A","rs8073904",0.81,0.86,0.87,0.85,0.71,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AATK",0.65,4.6,"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"]
["12307A(99)v30490",21,11,0.52,"12307A","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",1,150,"同义",13203,"0.51=18/35","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12307A(99)v30491",186,86,0.46,"12307A","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",1,150,"剪切位点",16202,"0.46=154/336","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12307A(99)v30492",90,39,0.43,"12307A","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",1,150,"错义",12220,"0.40=63/156","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12307A(99)v30493",54,28,0.52,"12307A","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",1,150,"非编码区",16203,"0.50=49/98","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12307A(99)v28221",47,23,0.49,"12307A","ABCA1","chr9:107665978","m.387C>G(E2)","非编码区","rs1800978",0.14,0.17,0.2,0.14,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,3,4,3,"ABCA1",1,180,"非编码区",14200,"0.49=36/74","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28221",47,23,0.49,"12307A","ABCA1","chr9:107665978","m.387C>G(E2)","非编码区","rs1800978",0.14,0.17,0.2,0.14,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,4,3,"ABCA1",1,180,"非编码区",14200,"0.49=36/74","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28221",47,23,0.49,"12307A","ABCA1","chr9:107665978","m.387C>G(E2)","非编码区","rs1800978",0.14,0.17,0.2,0.14,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",null,"原发性α低脂蛋白血症",null,604091,5,2,4,3,"ABCA1",1,180,"非编码区",14200,"0.49=36/74","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28222",183,93,0.51,"12307A","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",205400,5,3,4,3,"ABCA1",1,180,"错义",12220,"0.49=153/313","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28222",183,93,0.51,"12307A","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",143890,5,1,4,3,"ABCA1",1,180,"错义",12220,"0.49=153/313","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28222",183,93,0.51,"12307A","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,604091,5,2,4,3,"ABCA1",1,180,"错义",12220,"0.49=153/313","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28223",70,32,0.46,"12307A","ABCA1","chr9:107564328","IVS34+7A>G","非编码区","rs41415046",0.004,0.026,0.024,0.029,null,0.018,"杂合","未知","内含子突变可能影响调控",null,"丹吉尔病","AR",205400,4,3,4,3,"ABCA1",1,180,"非编码区",16103,"0.46=54/118","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28223",70,32,0.46,"12307A","ABCA1","chr9:107564328","IVS34+7A>G","非编码区","rs41415046",0.004,0.026,0.024,0.029,null,0.018,"杂合","未知","内含子突变可能影响调控",null,"家族性高胆固醇血症","AD",143890,4,1,4,3,"ABCA1",1,180,"非编码区",16103,"0.46=54/118","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28223",70,32,0.46,"12307A","ABCA1","chr9:107564328","IVS34+7A>G","非编码区","rs41415046",0.004,0.026,0.024,0.029,null,0.018,"杂合","未知","内含子突变可能影响调控",null,"原发性α低脂蛋白血症",null,604091,4,2,4,3,"ABCA1",1,180,"非编码区",16103,"0.46=54/118","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28224",25,9,0.36,"12307A","ABCA1","chr9:107666035-107666036","m.330(E2)至m.329(E2):插入C","非编码区","rs1799777",0.14,0.17,0.2,0.14,0.075,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"丹吉尔病","AR",205400,4,3,4,3,"ABCA1",1,180,"非编码区",2420,"0.35=9/26","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28224",25,9,0.36,"12307A","ABCA1","chr9:107666035-107666036","m.330(E2)至m.329(E2):插入C","非编码区","rs1799777",0.14,0.17,0.2,0.14,0.075,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"家族性高胆固醇血症","AD",143890,4,1,4,3,"ABCA1",1,180,"非编码区",2420,"0.35=9/26","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v28224",25,9,0.36,"12307A","ABCA1","chr9:107666035-107666036","m.330(E2)至m.329(E2):插入C","非编码区","rs1799777",0.14,0.17,0.2,0.14,0.075,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"原发性α低脂蛋白血症",null,604091,4,2,4,3,"ABCA1",1,180,"非编码区",2420,"0.35=9/26","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12307A(99)v26039",4,2,0.5,"12307A","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%",{"$nulls":4},5,null,4,0,"ABCA10",1,300,"非编码区",14200,"0.50=2/4","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12307A(99)v26040",72,31,0.43,"12307A","ABCA10","chr17:67178954","IVS21-5C>T","剪切位点","rs4968851",0.69,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA10",1,300,"剪切位点",16202,"0.38=42/111","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12307A(99)v26041",107,55,0.51,"12307A","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%",{"$nulls":4},5,null,4,0,"ABCA10",1,300,"非编码区",14200,"0.52=91/175","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12307A(99)v26042",204,98,0.48,"12307A","ABCA10","chr17:67178316","c.2747A>G(E23)","p.916,M>T","rs4968849",0.71,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA10",1,300,"错义",12220,"0.47=174/367","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12307A(99)v25590",74,74,1,"12307A","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",601277,5,1,6,2,"ABCA12",1,290,"错义",12220,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12307A(99)v25590",74,74,1,"12307A","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",242500,5,1,6,2,"ABCA12",1,290,"错义",12220,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12307A(99)v25591",90,90,1,"12307A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"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",601277,5,1,6,2,"ABCA12",1,290,"同义",13203,"0.99=147/148","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12307A(99)v25591",90,90,1,"12307A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"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",242500,5,1,6,2,"ABCA12",1,290,"同义",13203,"0.99=147/148","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12307A(99)v25592",269,267,0.99,"12307A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"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",601277,5,1,6,2,"ABCA12",1,290,"同义",13203,"0.99=491/496","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076.2"]
["12307A(99)v25592",269,267,0.99,"12307A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"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",242500,5,1,6,2,"ABCA12",1,290,"同义",13203,"0.99=491/496","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076.2"]
["12307A(99)v25593",83,43,0.52,"12307A","ABCA12","chr2:215797332","m.7019C>T(E45)","非编码区","rs17426207",0.4,0.34,0.31,0.36,null,0.36,"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",601277,5,3,6,2,"ABCA12",1,290,"非编码区",14200,"0.53=61/116","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12307A(99)v25593",83,43,0.52,"12307A","ABCA12","chr2:215797332","m.7019C>T(E45)","非编码区","rs17426207",0.4,0.34,0.31,0.36,null,0.36,"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",242500,5,3,6,2,"ABCA12",1,290,"非编码区",14200,"0.53=61/116","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12307A(99)v25594",358,1,0,"12307A","ABCA12","chr2:215819992-215819992","c.5373(E35):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,1,3,6,2,"ABCA12",1,290,"缺失移码",2140,"0.01=3/436","位于基因组单拷贝区域+简单重复结构",26154,"2q34","NM_015657.3"]
["12307A(99)v25594",358,1,0,"12307A","ABCA12","chr2:215819992-215819992","c.5373(E35):缺失A","缺失移码",{"$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",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",242500,1,3,6,2,"ABCA12",1,290,"缺失移码",2140,"0.01=3/436","位于基因组单拷贝区域+简单重复结构",26154,"2q34","NM_015657.3"]
["12307A(99)v25595",37,23,0.62,"12307A","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",601277,5,3,6,2,"ABCA12",1,290,"非编码区",2600,"0.63=24/38","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12307A(99)v25595",37,23,0.62,"12307A","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",242500,5,3,6,2,"ABCA12",1,290,"非编码区",2600,"0.63=24/38","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12307A(99)v19922",216,91,0.42,"12307A","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%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"同义",13203,"0.42=169/407","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19923",98,51,0.52,"12307A","ABCA13","chr7:48318811","c.8020C>T(E18)","p.2674,R>W","rs2222648",0.85,0.99,1,0.98,0.96,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12220,"0.48=79/166","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19924",73,34,0.47,"12307A","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%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12210,"0.46=56/122","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19925",60,30,0.5,"12307A","ABCA13","chr7:48685219","m.15312C>T(E62)","非编码区","rs376098156",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,13,0,"ABCA13",1,190,"非编码区",14300,"0.51=42/82","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19926",129,57,0.44,"12307A","ABCA13","chr7:48319299","c.8508A>G(E18)","p.2836,E>E",{"$nulls":6},0.00023,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ABCA13",1,190,"同义",13403,"0.43=91/211","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19927",130,60,0.46,"12307A","ABCA13","chr7:48285485","c.1517C>T(E13)","p.506,P>L","rs1880738",0.41,0.58,0.64,0.52,0.54,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12220,"0.45=99/220","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19928",70,70,1,"12307A","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%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12220,"1.00=140/140","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19929",51,30,0.59,"12307A","ABCA13","chr7:48317683","IVS17-8A>T","剪切位点","rs10246853",0.21,0.012,0.0048,0.019,null,0.036,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"剪切位点",16202,"0.63=52/83","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19930",103,51,0.5,"12307A","ABCA13","chr7:48312674","c.3411G>A(E17)","p.1137,V>V","rs1358066",0.58,0.74,0.8,0.67,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"同义",13203,"0.50=82/164","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19931",46,23,0.5,"12307A","ABCA13","chr7:48314798","c.5535G>T(E17)","p.1845,G>G","rs13233225",0.22,0.012,0.0048,0.019,0.008,0.012,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"同义",13203,"0.53=35/66","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19932",120,58,0.48,"12307A","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%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"剪切位点",16202,"0.52=113/218","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19933",83,34,0.41,"12307A","ABCA13","chr7:48315796","c.6533C>A(E17)","p.2178,A>E","rs1880736",0.81,0.99,1,0.98,0.98,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12220,"0.39=50/128","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v19934",54,28,0.52,"12307A","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%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"剪切位点",16202,"0.52=43/83","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12307A(99)v11330",2,2,1,"12307A","ABCA2","chr9:139902214","m.7626A>G(E49)","非编码区","rs10870161",0.93,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ABCA2",0.95,16,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v11331",1,1,1,"12307A","ABCA2","chr9:139908772","c.4088C>T(E27)","p.1363,C>Y","rs537094431",{"$nulls":6},"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,10,0,"ABCA2",0.95,16,"错义",12310,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v11332",7,1,0.14,"12307A","ABCA2","chr9:139914918","c.1295C>T(E10)","p.432,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,10,0,"ABCA2",0.95,16,"错义",12410,"0.20=3/15","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v11333",19,19,1,"12307A","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%",{"$nulls":4},5,null,10,0,"ABCA2",0.95,16,"错义",12230,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v11334",10,10,1,"12307A","ABCA2","chr9:139906359","c.5472G>A(E35)","p.1824,H>H","rs2271862",0.69,0.83,0.82,0.84,0.76,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ABCA2",0.95,16,"同义",13203,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v11335",14,14,1,"12307A","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%",{"$nulls":4},5,null,10,0,"ABCA2",0.95,16,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v11336",3,2,0.67,"12307A","ABCA2","chr9:139923265","c.60A>G(E1)","p.20,A>A","rs4880189",0.77,0.79,0.75,0.82,0.63,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ABCA2",0.95,16,"同义",13203,"0.67=4/6","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_212533.2"]
["12307A(99)v11337",12,1,0.08,"12307A","ABCA2","chr9:139910002","c.3561C>A(E24)","p.1187,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ABCA2",0.95,16,"同义",13403,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v11338",5,1,0.2,"12307A","ABCA2","chr9:139911403","c.2727G>T(E19)","p.909,I>I",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ABCA2",0.95,16,"同义",13403,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v11339",18,18,1,"12307A","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,10,0,"ABCA2",0.95,16,"同义",13203,"1.00=30/30","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12307A(99)v15856",33,33,1,"12307A","ABCA3","chr16:2367336","c.1059G>A(E10)","p.353,F>F","rs13332514",0.19,0.38,0.39,0.37,0.35,0.38,"纯合","无关","有rs号，MAF>=5%","18246475;18317237","肺泡蛋白沉着症3型","AR",610921,5,1,2,1,"ABCA3",0.99,49,"同义",13203,"1.00=51/51","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12307A(99)v15857",39,39,1,"12307A","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",0.99,49,"同义",13203,"1.00=78/78","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12307A(99)v14795",174,89,0.51,"12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14795",174,89,0.51,"12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14795",174,89,0.51,"12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14795",174,89,0.51,"12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14795",174,89,0.51,"12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14796",42,23,0.55,"12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14796",42,23,0.55,"12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14796",42,23,0.55,"12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14796",42,23,0.55,"12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14796",42,23,0.55,"12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14797",121,121,1,"12307A","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",248200,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14797",121,121,1,"12307A","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,601718,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14797",121,121,1,"12307A","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",613341,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14797",121,121,1,"12307A","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",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14797",121,121,1,"12307A","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,604116,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14798",69,31,0.45,"12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14798",69,31,0.45,"12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14798",69,31,0.45,"12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14798",69,31,0.45,"12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14798",69,31,0.45,"12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14799",132,62,0.47,"12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14799",132,62,0.47,"12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14799",132,62,0.47,"12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14799",132,62,0.47,"12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14799",132,62,0.47,"12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14800",95,51,0.54,"12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"斯特格病变1型","AR",248200,4,3,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14800",95,51,0.54,"12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"视网膜色素变性19型-AR",null,601718,4,2,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14800",95,51,0.54,"12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"青少年型视网膜色素变性-AR","AR",613341,4,3,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14800",95,51,0.54,"12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"年龄相关性黄斑变性2型","AD",153800,4,1,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14800",95,51,0.54,"12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"视锥-视杆细胞营养不良3型",null,604116,4,2,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14801",149,148,0.99,"12307A","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",248200,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14801",149,148,0.99,"12307A","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,601718,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14801",149,148,0.99,"12307A","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",613341,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14801",149,148,0.99,"12307A","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",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14801",149,148,0.99,"12307A","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,604116,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12307A(99)v14802",155,125,0.81,"12307A","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",248200,5,3,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12307A(99)v14802",155,125,0.81,"12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12307A(99)v14802",155,125,0.81,"12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$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",613341,5,3,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12307A(99)v14802",155,125,0.81,"12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12307A(99)v14802",155,125,0.81,"12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$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,604116,5,2,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350.2"]
["12307A(99)v19645",165,165,1,"12307A","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,{"$nulls":3},5,null,4,0,"ABCA5",1,320,"错义",12220,"1.00=300/300","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12307A(99)v19646",194,104,0.54,"12307A","ABCA5","chr17:67260926","c.3265A>G(E23)","p.1089,L>L","rs12449649",0.38,0.39,0.42,0.35,0.29,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA5",1,320,"同义",13203,"0.54=198/366","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12307A(99)v19647",244,117,0.48,"12307A","ABCA5","chr17:67305488","c.384A>G(E3)","p.128,G>G","rs184289333",0.0022,0.0072,0.0095,0.0049,0.015,0.014,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ABCA5",1,320,"同义",13103,"0.46=224/490","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12307A(99)v19648",134,70,0.52,"12307A","ABCA5","chr17:67267317","c.2878T>C(E20)","p.960,M>V","rs557491",0.5,0.62,0.59,0.65,0.68,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA5",1,320,"错义",12220,"0.52=117/223","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12307A(99)v2356",136,65,0.48,"12307A","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%",{"$nulls":4},5,null,4,0,"ABCA6",1,280,"非编码区",14200,"0.49=111/228","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12307A(99)v2357",238,238,1,"12307A","ABCA6","chr17:67101718","c.2625C>T(E20)","p.875,M>I","rs7212506",0.75,0.85,0.86,0.84,0.86,0.85,"纯合","无关","有rs号，MAF>=5%",17486107,{"$nulls":3},5,null,4,0,"ABCA6",1,280,"错义",12220,"1.00=426/426","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12307A(99)v2358",197,96,0.49,"12307A","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%",{"$nulls":4},5,null,4,0,"ABCA6",1,280,"错义",12220,"0.47=174/367","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12307A(99)v2359",148,62,0.42,"12307A","ABCA6","chr17:67081830","c.3965T>C(E31)","p.1322,N>S","rs2302134",0.46,0.32,0.37,0.28,0.25,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,280,"错义",12210,"0.42=121/289","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12307A(99)v23294",3,2,0.67,"12307A","ABCA7","chr19:1065018","c.6133G>T(E46)","p.2045,A>S","rs4147934",0.61,0.52,0.52,0.52,0.34,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"错义",12220,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23295",48,48,1,"12307A","ABCA7","chr19:1049012","IVS17+8A>C","非编码区","rs4147912",0.82,0.83,0.83,0.83,null,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"非编码区",16203,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23296",24,24,1,"12307A","ABCA7","chr19:1056065","c.4239A>G(E32)","p.1413,R>R","rs881768",0.44,0.39,0.4,0.39,0.34,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"剪切位点",13202,"0.97=32/33","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23297",5,5,1,"12307A","ABCA7","chr19:1047161","c.1851A>G(E15)","p.617,G>G","rs3752237",0.7,0.84,0.84,0.83,0.74,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"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"]
["12307A(99)v23298",22,11,0.5,"12307A","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%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"同义",13203,"0.52=17/33","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23299",3,2,0.67,"12307A","ABCA7","chr19:1053524","c.3417C>G(E24)","p.1139,L>L","rs3752241",0.18,0.16,0.15,0.17,0.13,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"同义",13203,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23300",5,3,0.6,"12307A","ABCA7","chr19:1049305","c.2421C>A(E18)","p.807,V>V","rs4147915",0.2,0.46,0.47,0.46,0.37,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"同义",13203,"0.62=5/8","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23301",24,24,1,"12307A","ABCA7","chr19:1056492","c.4580G>C(E33)","p.1527,G>A","rs3752246",0.83,0.7,0.69,0.72,0.66,0.66,"纯合","无关","有rs号，MAF>=5%","21460841;23669301;24643655",{"$nulls":3},5,null,13,0,"ABCA7",0.94,28,"错义",12220,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23302",16,16,1,"12307A","ABCA7","chr19:1054060","c.3528A>G(E26)","p.1176,L>L","rs3752243",0.54,0.42,0.42,0.41,0.36,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"同义",13203,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23303",6,6,1,"12307A","ABCA7","chr19:1044753","IVS11+10T>C","非编码区","rs3764648",{"$nulls":5},0.69,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,13,0,"ABCA7",0.94,28,"非编码区",16303,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23304",15,15,1,"12307A","ABCA7","chr19:1042809","c.563A>G(E7)","p.188,E>G","rs3764645",0.4,0.51,0.51,0.51,0.47,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"错义",12210,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23305",8,8,1,"12307A","ABCA7","chr19:1055191","c.4046G>A(E30)","p.1349,R>Q","rs3745842",0.39,0.39,0.39,0.39,0.29,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"错义",12220,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12307A(99)v23306",1,1,1,"12307A","ABCA7","chr19:1064193","c.5985G>A(E45)","p.1995,L>L","rs4147930",0.61,0.53,0.53,0.52,0.37,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA7",0.94,28,"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"]
["12307A(99)v5009",124,124,1,"12307A","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%",{"$nulls":4},5,null,3,0,"ABCA8",1,300,"同义",13203,"0.98=235/239","位于基因组多拷贝区域+DNA结构正常",10351,"17q24","NM_007168.2"]
["12307A(99)v5010",136,57,0.42,"12307A","ABCA8","chr17:66904001","c.2038A>C(E16)","p.680,C>G","rs16973424",0.03,0.1,0.12,0.087,0.087,0.13,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ABCA8",1,300,"错义",12110,"0.41=99/240","位于基因组单拷贝区域+DNA结构正常",10351,"17q24","NM_007168.2"]
["12307A(99)v5011",273,1,0,"12307A","ABCA8","chr17:66883244-66883244","c.3223(E24):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,"ABCA8",1,300,"缺失移码",2140,"0.01=2/320","位于基因组单拷贝区域+DNA结构正常",10351,"17q24","NM_007168.2"]
["12307A(99)v11096",222,222,1,"12307A","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",1,280,"错义",12220,"1.00=409/411","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283.3"]
["12307A(99)v4856",153,74,0.48,"12307A","ABCB1","chr7:87179601","c.1236A>G(E13)","p.412,G>G","rs1128503",0.58,0.33,0.37,0.3,0.3,0.36,"杂合","无关","有rs号，MAF>=5%","15197162;16999857;17548681;17913323;18213362;18424454;18547414;18698231;18725235;18812236;19107781;19155191;19285141;19437139;19694740;19740399;19844206;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21553324;21705081;21790905;21806386;21840870;21896346;22015057;22134106;22136368;22306099;22358301;22569204;23133420;23133441;23188198;23443032;23462807;23896815;24240480;24732756;24756092;24797400;24810093;24874929;24944790;24996541;25007187;25122423","秋水仙碱抵抗",null,120080,5,2,4,2,"ABCB1",1,290,"同义",13203,"0.47=121/258","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12307A(99)v4856",153,74,0.48,"12307A","ABCB1","chr7:87179601","c.1236A>G(E13)","p.412,G>G","rs1128503",0.58,0.33,0.37,0.3,0.3,0.36,"杂合","无关","有rs号，MAF>=5%","15197162;16999857;17548681;17913323;18213362;18424454;18547414;18698231;18725235;18812236;19107781;19155191;19285141;19437139;19694740;19740399;19844206;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21553324;21705081;21790905;21806386;21840870;21896346;22015057;22134106;22136368;22306099;22358301;22569204;23133420;23133441;23188198;23443032;23462807;23896815;24240480;24732756;24756092;24797400;24810093;24874929;24944790;24996541;25007187;25122423","炎性肠病13型",null,612244,5,2,4,2,"ABCB1",1,290,"同义",13203,"0.47=121/258","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12307A(99)v4857",122,121,0.99,"12307A","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,120080,5,1,4,2,"ABCB1",1,290,"非编码区",14200,"1.00=234/235","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12307A(99)v4857",122,121,0.99,"12307A","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,612244,5,1,4,2,"ABCB1",1,290,"非编码区",14200,"1.00=234/235","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12307A(99)v4858",231,118,0.51,"12307A","ABCB1","chr7:87160618","c.2677A>T(E22)","p.893,S>T","rs2032582",null,0.14,0.13,0.16,0.13,0.14,"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,120080,3,2,4,2,"ABCB1",1,290,"错义",12320,"0.52=236/452","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12307A(99)v4858",231,118,0.51,"12307A","ABCB1","chr7:87160618","c.2677A>T(E22)","p.893,S>T","rs2032582",null,0.14,0.13,0.16,0.13,0.14,"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,612244,3,2,4,2,"ABCB1",1,290,"错义",12320,"0.52=236/452","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12307A(99)v4859",123,59,0.48,"12307A","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,120080,4,2,4,2,"ABCB1",1,290,"同义",13303,"0.49=111/226","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12307A(99)v4859",123,59,0.48,"12307A","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,612244,4,2,4,2,"ABCB1",1,290,"同义",13303,"0.49=111/226","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12307A(99)v22612",142,60,0.42,"12307A","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",0.77,150,"非编码区",2500,"0.40=69/171","位于基因组单拷贝区域+DNA结构正常",23456,"1q42.13","NM_012089.2"]
["12307A(99)v3297",109,109,1,"12307A","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",601847,3,1,2,2,"ABCB11",1,240,"错义",12320,"1.00=171/171","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12307A(99)v3297",109,109,1,"12307A","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",605479,3,1,2,2,"ABCB11",1,240,"错义",12320,"1.00=171/171","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12307A(99)v3298",3,3,1,"12307A","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",601847,3,1,2,2,"ABCB11",1,240,"非编码区",14300,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12307A(99)v3298",3,3,1,"12307A","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",605479,3,1,2,2,"ABCB11",1,240,"非编码区",14300,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12307A(99)v22756",124,59,0.48,"12307A","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",1,300,"同义",13203,"0.46=86/185","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12307A(99)v22756",124,59,0.48,"12307A","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",1,300,"同义",13203,"0.46=86/185","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12307A(99)v22756",124,59,0.48,"12307A","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",1,300,"同义",13203,"0.46=86/185","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12307A(99)v13427",212,211,1,"12307A","ABCB5","chr7:20762646","c.2429G>T(E21)","p.810,G>V","rs62453384",0.23,0.21,0.24,0.18,0.19,0.2,"纯合","无关","有rs号，MAF>=5%",21298007,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12210,"1.00=363/364","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12307A(99)v13428",64,64,1,"12307A","ABCB5","chr7:20778646","c.2908G>A(E24)","p.970,E>K","rs6461515",0.76,0.85,0.84,0.86,0.87,0.82,"纯合","无关","有rs号，MAF>=5%",21298007,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12220,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12307A(99)v13429",155,77,0.5,"12307A","ABCB5","chr7:20666235","IVS3+1G>C","剪切位点","rs17143187",0.15,0.45,0.43,0.46,0.48,0.53,"杂合","无关","突变在经典剪切位点上",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"剪切位点",16204,"0.50=141/283","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12307A(99)v13430",5,5,1,"12307A","ABCB5","chr7:20706645","m.1182G>T(E6)","非编码区","rs12535128",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163993.1"]
["12307A(99)v13431",162,76,0.47,"12307A","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%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"剪切位点",16202,"0.49=139/282","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12307A(99)v13432",73,39,0.53,"12307A","ABCB5","chr7:20698270","c.1678A>G(E14)","p.560,K>E","rs2301641",0.36,0.16,0.17,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%","21298007;23770371",{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12220,"0.50=62/125","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12307A(99)v13433",181,90,0.5,"12307A","ABCB5","chr7:20685484","c.784C>A(E8)","p.262,Q>K","rs2074000",0.14,0.46,0.45,0.47,0.47,0.49,"杂合","无关","有rs号，MAF>=5%",21298007,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12210,"0.47=153/327","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12307A(99)v13434",130,130,1,"12307A","ABCB5","chr7:20768013","c.2802G>A(E23)","p.934,A>A","rs10254317",0.6,0.7,0.71,0.69,0.67,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"同义",13203,"1.00=231/232","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12307A(99)v27088",2,2,1,"12307A","ABCB6","chr2:220083279","c.117C>T(E1)","p.39,L>L","rs1109866",0.74,0.84,0.83,0.84,0.64,0.84,"纯合","无关","有rs号，MAF>=5%",null,"孤立性小眼畸形伴眼缺损7型","AD",614497,5,1,2,3,"ABCB6",0.97,79,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12307A(99)v27088",2,2,1,"12307A","ABCB6","chr2:220083279","c.117C>T(E1)","p.39,L>L","rs1109866",0.74,0.84,0.83,0.84,0.64,0.84,"纯合","无关","有rs号，MAF>=5%",null,"Langereis血型系统",null,111600,5,1,2,3,"ABCB6",0.97,79,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12307A(99)v27088",2,2,1,"12307A","ABCB6","chr2:220083279","c.117C>T(E1)","p.39,L>L","rs1109866",0.74,0.84,0.83,0.84,0.64,0.84,"纯合","无关","有rs号，MAF>=5%",null,"泛发性色素异常症3","AD",615402,5,1,2,3,"ABCB6",0.97,79,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12307A(99)v27089",46,20,0.43,"12307A","ABCB6","chr2:220075024","IVS17-4A>G","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"孤立性小眼畸形伴眼缺损7型","AD",614497,4,1,2,3,"ABCB6",0.97,79,"剪切位点",16402,"0.49=36/73","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12307A(99)v27089",46,20,0.43,"12307A","ABCB6","chr2:220075024","IVS17-4A>G","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"Langereis血型系统",null,111600,4,2,2,3,"ABCB6",0.97,79,"剪切位点",16402,"0.49=36/73","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12307A(99)v27089",46,20,0.43,"12307A","ABCB6","chr2:220075024","IVS17-4A>G","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"泛发性色素异常症3","AD",615402,4,1,2,3,"ABCB6",0.97,79,"剪切位点",16402,"0.49=36/73","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12307A(99)v31643",15,8,0.53,"12307A","ABCB8","chr7:150733025","c.984T>A(E7)","p.328,R>R","rs2303926",0.3,0.25,0.23,0.26,0.25,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCB8",1,34,"同义",13203,"0.43=10/23","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188.3"]
["12307A(99)v31644",13,1,0.08,"12307A","ABCB8","chr7:150732978","c.937G>A(E7)","p.313,A>T",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ABCB8",1,34,"错义",12410,"0.20=6/30","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188.3"]
["12307A(99)v31645",4,1,0.25,"12307A","ABCB8","chr7:150742526","m.2340G>A(E16)","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,"ABCB8",1,34,"非编码区",14400,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188.3"]
["12307A(99)v31646",7,1,0.14,"12307A","ABCB8","chr7:150741248","c.1956G>T(E15)","p.652,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,"ABCB8",1,34,"同义",13403,"0.31=4/13","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188.3"]
["12307A(99)v18511",15,7,0.47,"12307A","ABCB9","chr12:123424824","c.1388G>C(E8)","p.463,S>C","rs116062676",1.4E-3,0.012,0.014,0.0097,0.0046,3.3E-3,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ABCB9",0.88,40,"错义",12110,"0.50=12/24","位于基因组单拷贝区域+DNA结构正常",23457,"12q24","NM_001243013.1"]
["12307A(99)v11478",98,43,0.44,"12307A","ABCC1","chr16:16110375","c.512G>C(E5)","p.171,R>P","rs559703047",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ABCC1",0.99,100,"错义",12310,"0.46=77/167","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12307A(99)v11479",27,27,1,"12307A","ABCC1","chr16:16205449","IVS22+10G>A","非编码区","rs3851716",0.93,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCC1",0.99,100,"非编码区",16203,"0.98=51/52","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12307A(99)v11480",89,45,0.51,"12307A","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",{"$nulls":3},5,null,5,0,"ABCC1",0.99,100,"同义",13203,"0.47=74/157","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12307A(99)v11481",32,16,0.5,"12307A","ABCC1","chr16:16139878","IVS9+8A>G","非编码区","rs35588",0.41,0.46,0.44,0.47,null,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCC1",0.99,100,"非编码区",16203,"0.51=23/45","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12307A(99)v11482",34,17,0.5,"12307A","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,{"$nulls":3},5,null,5,0,"ABCC1",0.99,100,"同义",13203,"0.48=28/58","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12307A(99)v30392",24,15,0.62,"12307A","ABCC10","chr6:43401105","IVS3+7G>A","非编码区","rs9394952",0.36,0.6,0.59,0.61,null,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCC10",0.96,53,"非编码区",16203,"0.57=27/47","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_001198934.1"]
["12307A(99)v30393",40,20,0.5,"12307A","ABCC10","chr6:43399837","m.349A>G(E1)","非编码区","rs700008",0.88,0.95,0.95,0.95,null,0.95,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCC10",0.96,53,"非编码区",14200,"0.49=37/75","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_033450.2"]
["12307A(99)v8878",37,37,1,"12307A","ABCC11","chr16:48258198","c.538C>T(E5)","p.180,G>R","rs17822931",0.3,0.91,0.84,0.97,0.87,0.88,"纯合","无关","有rs号，MAF>=5%","16255080;16444273;17394018;18037328;18817904;19650936;19737746;20937735;21423094;23325016;23760047;24019265","顶浆分泌腺变异","AD",117800,5,1,2,1,"ABCC11",1,140,"错义",12210,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",85320,"16q12.1","NM_032583.3"]
["12307A(99)v8879",9,6,0.67,"12307A","ABCC11","chr16:48201055","m.4343T>C(E30)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"顶浆分泌腺变异","AD",117800,3,1,2,1,"ABCC11",1,140,"非编码区",14400,"0.64=7/11","位于基因组单拷贝区域+DNA结构正常",85320,"16q12.1","NM_032583.3"]
["12307A(99)v1244",94,94,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ABCC12",1,180,"错义",12210,"0.99=158/159","位于基因组单拷贝区域+DNA结构正常",94160,"16q12.1","NM_033226.2"]
["12307A(99)v1245",81,30,0.37,"12307A","ABCC12","chr16:48180234","c.102T>G(E1)","p.34,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ABCC12",1,180,"同义",13403,"0.33=46/140","位于基因组单拷贝区域+DNA结构正常",94160,"16q12.1","NM_033226.2"]
["12307A(99)v25118",66,32,0.48,"12307A","ABCC2","chr10:101604207","c.3972C>T(E28)","p.1324,I>I","rs3740066",0.29,0.25,0.26,0.25,0.19,0.24,"杂合","无关","有rs号，MAF>=5%","17997497;18395921;18926681;19568750;22630058;22868256;23506516;24732756;24944790","杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,3,5,1,"ABCC2",1,190,"同义",13203,"0.50=67/134","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392.3"]
["12307A(99)v25119",130,130,1,"12307A","ABCC2","chr10:101544447","c.116A>T(E2)","p.39,Y>F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,5,1,"ABCC2",1,190,"错义",12230,"1.00=257/257","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392.3"]
["12307A(99)v25120",79,36,0.46,"12307A","ABCC2","chr10:101563815","c.1249G>A(E10)","p.417,V>I","rs2273697",0.19,0.12,0.11,0.14,0.11,0.085,"杂合","无关","有rs号，MAF>=5%","16385451;18176959;18395921;18547414;18817904;19568750;20216337;22112610;22318656;22630058;23069858;23506516;23896815;24732756;24831289;24944790;24991206","杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,3,5,1,"ABCC2",1,190,"错义",12220,"0.43=55/129","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392.3"]
["12307A(99)v25121",68,40,0.59,"12307A","ABCC2","chr10:101542578","m.116C>T(E1)","非编码区","rs717620",0.13,0.23,0.22,0.23,0.19,0.22,"杂合","无关","有rs号，MAF>=5%",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,3,5,1,"ABCC2",1,190,"非编码区",14200,"0.61=69/113","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392.3"]
["12307A(99)v25122",292,2,0.01,"12307A","ABCC2","chr10:101559000-101559000","c.904(E8):缺失A","缺失移码",{"$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,"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",237500,1,3,5,1,"ABCC2",1,190,"缺失移码",2140,"0.01=2/334","位于基因组单拷贝区域+简单重复结构",1244,"10q24","NM_000392.3"]
["12307A(99)v20916",118,53,0.45,"12307A","ABCC4","chr13:95727780","c.2712T>C(E22)","p.904,L>L","rs1678339",0.89,0.82,0.83,0.81,0.75,0.79,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,8,0,"ABCC4",0.99,260,"同义",13203,"0.44=92/209","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12307A(99)v20917",87,37,0.43,"12307A","ABCC4","chr13:95861804","c.669A>G(E6)","p.223,I>I","rs899494",0.81,0.78,0.8,0.77,0.76,0.78,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,8,0,"ABCC4",0.99,260,"同义",13203,"0.42=64/154","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12307A(99)v20918",1,1,1,"12307A","ABCC4","chr13:95672950","m.4976A>G(E31)","非编码区","rs1059751",0.41,0.48,0.48,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCC4",0.99,260,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12307A(99)v20919",142,76,0.54,"12307A","ABCC4","chr13:95726541","c.2844A>G(E23)","p.948,F>F","rs1189466",0.9,0.82,0.84,0.81,0.75,0.79,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,8,0,"ABCC4",0.99,260,"同义",13203,"0.52=129/248","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12307A(99)v20920",60,22,0.37,"12307A","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,{"$nulls":3},5,null,8,0,"ABCC4",0.99,260,"同义",13203,"0.36=41/115","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12307A(99)v20921",147,83,0.56,"12307A","ABCC4","chr13:95714976","c.3348C>T(E26)","p.1116,K>K","rs1751034",0.79,0.81,0.82,0.81,0.74,0.78,"杂合","无关","有rs号，MAF>=5%","18364470;24944790",{"$nulls":3},5,null,8,0,"ABCC4",0.99,260,"同义",13203,"0.55=126/228","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12307A(99)v20922",85,42,0.49,"12307A","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%",{"$nulls":4},5,null,8,0,"ABCC4",0.99,260,"非编码区",14200,"0.48=64/134","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12307A(99)v20923",65,25,0.38,"12307A","ABCC4","chr13:95858978","c.969T>C(E8)","p.323,S>S","rs2274405",0.63,0.53,0.51,0.55,0.52,0.53,"杂合","无关","有rs号，MAF>=5%","18213362;18364470",{"$nulls":3},5,null,8,0,"ABCC4",0.99,260,"同义",13203,"0.39=46/118","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12307A(99)v2638",174,77,0.44,"12307A","ABCC5","chr3:183685534","c.1782A>G(E12)","p.594,C>C","rs939336",0.69,0.85,0.87,0.82,0.83,0.86,"杂合","无关","有rs号，MAF>=5%","14507663;24924344",{"$nulls":3},5,null,4,0,"ABCC5",1,140,"同义",13203,"0.43=130/299","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12307A(99)v2639",152,74,0.49,"12307A","ABCC5","chr3:183660585","c.3624G>A(E25)","p.1208,L>L","rs3749442",0.25,0.44,0.47,0.41,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC5",1,140,"同义",13203,"0.48=124/261","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12307A(99)v2640",124,61,0.49,"12307A","ABCC5","chr3:183696402","c.1185A>G(E9)","p.395,A>A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"杂合","无关","有rs号，MAF>=5%",24924344,{"$nulls":3},5,null,4,0,"ABCC5",1,140,"同义",13203,"0.49=110/225","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12307A(99)v2641",1,1,1,"12307A","ABCC5","chr3:183638506","m.5061C>T(E30)","非编码区","rs3749445",0.38,0.5,0.54,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC5",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",10057,"3q27","NM_005688.2"]
["12307A(99)v15900",33,14,0.42,"12307A","ABCC6","chr16:16291971","c.1245C>T(E10)","p.415,V>V","rs9940825",0.23,0.089,0.1,0.073,0.057,0.096,"杂合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤","AR",264800,5,3,11,3,"ABCC6",1,68,"同义",13203,"0.37=19/52","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15900",33,14,0.42,"12307A","ABCC6","chr16:16291971","c.1245C>T(E10)","p.415,V>V","rs9940825",0.23,0.089,0.1,0.073,0.057,0.096,"杂合","无关","有rs号，MAF>=5%",null,"早期弹性纤维假黄瘤","AD",177850,5,1,11,3,"ABCC6",1,68,"同义",13203,"0.37=19/52","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15900",33,14,0.42,"12307A","ABCC6","chr16:16291971","c.1245C>T(E10)","p.415,V>V","rs9940825",0.23,0.089,0.1,0.073,0.057,0.096,"杂合","无关","有rs号，MAF>=5%",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,11,3,"ABCC6",1,68,"同义",13203,"0.37=19/52","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15901",12,7,0.58,"12307A","ABCC6","chr16:16251599","c.3803C>T(E27)","p.1268,R>Q","rs2238472",0.18,0.096,0.09,0.1,0.11,0.12,"杂合","无关","有疾病相关报道，MAF>=5%","24944790;11536079;","弹性纤维假黄瘤","AR",264800,5,3,11,3,"ABCC6",1,68,"错义",11200,"0.59=13/22","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15901",12,7,0.58,"12307A","ABCC6","chr16:16251599","c.3803C>T(E27)","p.1268,R>Q","rs2238472",0.18,0.096,0.09,0.1,0.11,0.12,"杂合","无关","有疾病相关报道，MAF>=5%","24944790;11536079;","早期弹性纤维假黄瘤","AD",177850,5,1,11,3,"ABCC6",1,68,"错义",11200,"0.59=13/22","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15901",12,7,0.58,"12307A","ABCC6","chr16:16251599","c.3803C>T(E27)","p.1268,R>Q","rs2238472",0.18,0.096,0.09,0.1,0.11,0.12,"杂合","无关","有疾病相关报道，MAF>=5%","24944790;11536079;","婴儿期广泛性动脉钙化2型","AR",614473,5,3,11,3,"ABCC6",1,68,"错义",11200,"0.59=13/22","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15902",26,10,0.38,"12307A","ABCC6","chr16:16291983","c.1233A>G(E10)","p.411,N>N","rs9930886",0.28,0.3,0.32,0.27,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",11536079,"弹性纤维假黄瘤","AR",264800,5,3,11,3,"ABCC6",1,68,"同义",13203,"0.36=12/33","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15902",26,10,0.38,"12307A","ABCC6","chr16:16291983","c.1233A>G(E10)","p.411,N>N","rs9930886",0.28,0.3,0.32,0.27,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",11536079,"早期弹性纤维假黄瘤","AD",177850,5,1,11,3,"ABCC6",1,68,"同义",13203,"0.36=12/33","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15902",26,10,0.38,"12307A","ABCC6","chr16:16291983","c.1233A>G(E10)","p.411,N>N","rs9930886",0.28,0.3,0.32,0.27,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",11536079,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,11,3,"ABCC6",1,68,"同义",13203,"0.36=12/33","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15903",42,16,0.38,"12307A","ABCC6","chr16:16281007","c.1841A>G(E14)","p.614,V>A","rs12931472",0.34,0.13,0.12,0.15,0.12,0.16,"杂合","无关","有rs号，MAF>=5%",10835642,"弹性纤维假黄瘤","AR",264800,5,3,11,3,"ABCC6",1,68,"错义",12220,"0.31=21/67","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15903",42,16,0.38,"12307A","ABCC6","chr16:16281007","c.1841A>G(E14)","p.614,V>A","rs12931472",0.34,0.13,0.12,0.15,0.12,0.16,"杂合","无关","有rs号，MAF>=5%",10835642,"早期弹性纤维假黄瘤","AD",177850,5,1,11,3,"ABCC6",1,68,"错义",12220,"0.31=21/67","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15903",42,16,0.38,"12307A","ABCC6","chr16:16281007","c.1841A>G(E14)","p.614,V>A","rs12931472",0.34,0.13,0.12,0.15,0.12,0.16,"杂合","无关","有rs号，MAF>=5%",10835642,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,11,3,"ABCC6",1,68,"错义",12220,"0.31=21/67","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15904",61,61,1,"12307A","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",264800,5,1,11,3,"ABCC6",1,68,"错义",12230,"1.00=100/100","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15904",61,61,1,"12307A","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",177850,5,1,11,3,"ABCC6",1,68,"错义",12230,"1.00=100/100","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15904",61,61,1,"12307A","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",614473,5,1,11,3,"ABCC6",1,68,"错义",12230,"1.00=100/100","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15905",6,1,0.17,"12307A","ABCC6","chr16:16248765","c.4006G>T(E28)","p.1336,H>N","rs376735995",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",null,"弹性纤维假黄瘤","AR",264800,2,3,11,3,"ABCC6",1,68,"错义",12310,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15905",6,1,0.17,"12307A","ABCC6","chr16:16248765","c.4006G>T(E28)","p.1336,H>N","rs376735995",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",null,"早期弹性纤维假黄瘤","AD",177850,2,1,11,3,"ABCC6",1,68,"错义",12310,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15905",6,1,0.17,"12307A","ABCC6","chr16:16248765","c.4006G>T(E28)","p.1336,H>N","rs376735995",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",null,"婴儿期广泛性动脉钙化2型","AR",614473,2,3,11,3,"ABCC6",1,68,"错义",12310,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15906",2,1,0.5,"12307A","ABCC6","chr16:16263547","c.2951G>T(E22)","p.984,A>E",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"弹性纤维假黄瘤","AR",264800,3,3,11,3,"ABCC6",1,68,"错义",12420,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15906",2,1,0.5,"12307A","ABCC6","chr16:16263547","c.2951G>T(E22)","p.984,A>E",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"早期弹性纤维假黄瘤","AD",177850,3,1,11,3,"ABCC6",1,68,"错义",12420,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15906",2,1,0.5,"12307A","ABCC6","chr16:16263547","c.2951G>T(E22)","p.984,A>E",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"婴儿期广泛性动脉钙化2型","AR",614473,3,3,11,3,"ABCC6",1,68,"错义",12420,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15907",55,24,0.44,"12307A","ABCC6","chr16:16278869","c.1890G>C(E15)","p.630,T>T","rs8058696",0.33,0.14,0.13,0.16,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",11439001,"弹性纤维假黄瘤","AR",264800,5,3,11,3,"ABCC6",1,68,"同义",13203,"0.46=42/92","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15907",55,24,0.44,"12307A","ABCC6","chr16:16278869","c.1890G>C(E15)","p.630,T>T","rs8058696",0.33,0.14,0.13,0.16,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",11439001,"早期弹性纤维假黄瘤","AD",177850,5,1,11,3,"ABCC6",1,68,"同义",13203,"0.46=42/92","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15907",55,24,0.44,"12307A","ABCC6","chr16:16278869","c.1890G>C(E15)","p.630,T>T","rs8058696",0.33,0.14,0.13,0.16,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",11439001,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,11,3,"ABCC6",1,68,"同义",13203,"0.46=42/92","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15908",24,23,0.96,"12307A","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",264800,5,1,11,3,"ABCC6",1,68,"同义",13203,"0.97=34/35","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15908",24,23,0.96,"12307A","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",177850,5,1,11,3,"ABCC6",1,68,"同义",13203,"0.97=34/35","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15908",24,23,0.96,"12307A","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",614473,5,1,11,3,"ABCC6",1,68,"同义",13203,"0.97=34/35","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15909",3,1,0.33,"12307A","ABCC6","chr16:16263585","c.2913C>A(E22)","p.971,W>C",{"$nulls":5},0.00078,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"弹性纤维假黄瘤","AR",264800,2,3,11,3,"ABCC6",1,68,"错义",12410,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15909",3,1,0.33,"12307A","ABCC6","chr16:16263585","c.2913C>A(E22)","p.971,W>C",{"$nulls":5},0.00078,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"早期弹性纤维假黄瘤","AD",177850,2,1,11,3,"ABCC6",1,68,"错义",12410,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15909",3,1,0.33,"12307A","ABCC6","chr16:16263585","c.2913C>A(E22)","p.971,W>C",{"$nulls":5},0.00078,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"婴儿期广泛性动脉钙化2型","AR",614473,2,3,11,3,"ABCC6",1,68,"错义",12410,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15910",53,22,0.42,"12307A","ABCC6","chr16:16278863","c.1896G>T(E15)","p.632,H>Q","rs8058694",0.33,0.14,0.13,0.16,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",11536079,"弹性纤维假黄瘤","AR",264800,5,3,11,3,"ABCC6",1,68,"错义",12220,"0.41=39/94","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15910",53,22,0.42,"12307A","ABCC6","chr16:16278863","c.1896G>T(E15)","p.632,H>Q","rs8058694",0.33,0.14,0.13,0.16,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",11536079,"早期弹性纤维假黄瘤","AD",177850,5,1,11,3,"ABCC6",1,68,"错义",12220,"0.41=39/94","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v15910",53,22,0.42,"12307A","ABCC6","chr16:16278863","c.1896G>T(E15)","p.632,H>Q","rs8058694",0.33,0.14,0.13,0.16,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",11536079,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,11,3,"ABCC6",1,68,"错义",12220,"0.41=39/94","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12307A(99)v19664",17,17,1,"12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","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",1,86,"错义",12220,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19664",17,17,1,"12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","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",1,86,"错义",12220,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19664",17,17,1,"12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","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",1,86,"错义",12220,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19664",17,17,1,"12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿暂时性糖尿病2型",null,610374,5,1,4,5,"ABCC8",1,86,"错义",12220,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19664",17,17,1,"12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","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",1,86,"错义",12220,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19665",23,23,1,"12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"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",1,86,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19665",23,23,1,"12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"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",1,86,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19665",23,23,1,"12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"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",1,86,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19665",23,23,1,"12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"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",1,86,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19665",23,23,1,"12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"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",1,86,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19666",50,22,0.44,"12307A","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",1,86,"同义",13203,"0.44=38/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19666",50,22,0.44,"12307A","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",1,86,"同义",13203,"0.44=38/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19666",50,22,0.44,"12307A","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",1,86,"同义",13203,"0.44=38/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19666",50,22,0.44,"12307A","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",1,86,"同义",13203,"0.44=38/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19666",50,22,0.44,"12307A","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",1,86,"同义",13203,"0.44=38/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12307A(99)v19667",19,10,0.53,"12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"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",1,86,"剪切位点",16202,"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"]
["12307A(99)v19667",19,10,0.53,"12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"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",1,86,"剪切位点",16202,"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"]
["12307A(99)v19667",19,10,0.53,"12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"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",1,86,"剪切位点",16202,"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"]
["12307A(99)v19667",19,10,0.53,"12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"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",1,86,"剪切位点",16202,"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"]
["12307A(99)v19667",19,10,0.53,"12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"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",1,86,"剪切位点",16202,"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"]
["12307A(99)v25795",35,35,1,"12307A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"纯合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,290,"剪切位点",16201,"0.98=51/52","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12307A(99)v25795",35,35,1,"12307A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"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",1,290,"剪切位点",16201,"0.98=51/52","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12307A(99)v25795",35,35,1,"12307A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"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",1,290,"剪切位点",16201,"0.98=51/52","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12307A(99)v25796",140,138,0.99,"12307A","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",1,290,"同义",13203,"0.99=281/285","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12307A(99)v25796",140,138,0.99,"12307A","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",1,290,"同义",13203,"0.99=281/285","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12307A(99)v25796",140,138,0.99,"12307A","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",1,290,"同义",13203,"0.99=281/285","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12307A(99)v22721",3,3,1,"12307A","ABCD1","chrX:153009197","m.2645G>C(E10)","非编码区","rs2229539",null,0.59,0.59,0.58,0.46,0.65,"纯合","未知","UTR突变可能影响蛋白翻译",null,"X连锁肾上腺脑白质营养不良","XR",300100,3,1,1,1,"ABCD1",0.98,30,"非编码区",14300,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",215,"Xq28","NM_000033.3"]
["12307A(99)v18057",59,46,0.78,"12307A","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,2,0,"ABCD3",1,330,"非编码区",14200,"0.76=66/87","位于基因组单拷贝区域+DNA结构正常",5825,"1p21.3","NM_002858.3"]
["12307A(99)v18058",38,16,0.42,"12307A","ABCD3","chr1:94982810","m.2207A>G(E23)","非编码区","rs337592",0.11,0.12,0.14,0.092,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCD3",1,330,"非编码区",14200,"0.45=19/42","位于基因组单拷贝区域+DNA结构正常",5825,"1p21.3","NM_002858.3"]
["12307A(99)v21233",127,125,0.98,"12307A","ABCE1","chr4:146046138","IVS16-4T>C","剪切位点","rs4835203",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCE1",1,310,"剪切位点",16202,"0.98=221/225","位于基因组单拷贝区域+DNA结构正常",6059,"4q31","NM_001040876.1"]
["12307A(99)v16680",74,74,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ABCF2",1,100,"同义",13203,"1.00=130/130","位于基因组多拷贝区域+DNA结构正常",10061,"7q36","NM_005692.3"]
["12307A(99)v16681",68,68,1,"12307A","ABCF2","chr7:150916228","c.939G>A(E8)","p.313,Y>Y","rs6949587",0.42,0.69,0.76,0.63,0.67,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF2",1,100,"同义",13203,"0.99=123/124","位于基因组单拷贝区域+DNA结构正常",10061,"7q36","NM_005692.3"]
["12307A(99)v30534",22,10,0.45,"12307A","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",{"$nulls":4},4,null,1,0,"ABCF3",1,93,"非编码区",2420,"0.42=10/24","位于基因组单拷贝区域+简单重复结构",55324,"3q27.1","NM_018358.2"]
["12307A(99)v4278",19,13,0.68,"12307A","ABCG1","chr21:43640066","m.59C>G(E1)","非编码区","rs9975490",0.16,0.26,0.25,0.27,null,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCG1",0.98,98,"非编码区",14200,"0.71=20/28","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_207174.1"]
["12307A(99)v4279",4,1,0.25,"12307A","ABCG1","chr21:43639346","m.80C>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,3,0,"ABCG1",0.98,98,"非编码区",14400,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12307A(99)v4280",87,28,0.32,"12307A","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",0.98,98,"非编码区",2500,"0.33=30/92","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12307A(99)v22162",147,147,1,"12307A","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",1,300,"错义",12220,"1.00=277/278","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_001257386.1"]
["12307A(99)v22162",147,147,1,"12307A","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",1,300,"错义",12220,"1.00=277/278","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_001257386.1"]
["12307A(99)v22163",273,4,0.01,"12307A","ABCG2","chr4:89034568-89034570","c.1081(E9)至c.1079(E9):缺失TCT","缺失非移码",{"$nulls":5},0.0024,1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"血型JUNIOR系统",null,614490,3,2,2,2,"ABCG2",1,300,"缺失非移码",2242,"0.02=5/298","位于基因组单拷贝区域+简单重复结构",9429,"4q22","NM_001257386.1"]
["12307A(99)v22163",273,4,0.01,"12307A","ABCG2","chr4:89034568-89034570","c.1081(E9)至c.1079(E9):缺失TCT","缺失非移码",{"$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",1,300,"缺失非移码",2242,"0.02=5/298","位于基因组单拷贝区域+简单重复结构",9429,"4q22","NM_001257386.1"]
["12307A(99)v13458",26,25,0.96,"12307A","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",1,68,"非编码区",2420,"0.96=26/27","位于基因组单拷贝区域+DNA结构正常",64137,"11q23.3","NM_001142505.1"]
["12307A(99)v1383",83,82,0.99,"12307A","ABCG8","chr2:44101538","IVS9-8C>T","剪切位点","rs28517482",0.76,0.97,0.97,0.98,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,1,5,2,"ABCG8",1,90,"剪切位点",16202,"0.99=141/143","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1383",83,82,0.99,"12307A","ABCG8","chr2:44101538","IVS9-8C>T","剪切位点","rs28517482",0.76,0.97,0.97,0.98,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,90,"剪切位点",16202,"0.99=141/143","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1384",152,152,1,"12307A","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",210250,3,1,5,2,"ABCG8",1,90,"错义",12320,"1.00=274/274","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1384",152,152,1,"12307A","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,611465,3,1,5,2,"ABCG8",1,90,"错义",12320,"1.00=274/274","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1385",34,34,1,"12307A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"纯合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,1,5,2,"ABCG8",1,90,"剪切位点",16202,"0.98=57/58","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1385",34,34,1,"12307A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"纯合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,90,"剪切位点",16202,"0.98=57/58","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1386",5,4,0.8,"12307A","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",210250,5,3,5,2,"ABCG8",1,90,"非编码区",14200,"0.71=10/14","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1386",5,4,0.8,"12307A","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,611465,5,2,5,2,"ABCG8",1,90,"非编码区",14200,"0.71=10/14","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1387",37,37,1,"12307A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"纯合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","谷甾醇血症","AR",210250,5,1,5,2,"ABCG8",1,90,"错义",12210,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v1387",37,37,1,"12307A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"纯合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,90,"错义",12210,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12307A(99)v12075",46,46,1,"12307A","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",1,100,"错义",12230,"1.00=63/63","位于基因组单拷贝区域+DNA结构正常",84696,"2p23.3","NM_032604.3"]
["12307A(99)v19119",7,5,0.71,"12307A","ABHD10","chr3:111710682","m.1116A>C(E5)","非编码区","rs3749308",0.18,0.11,0.09,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD10",1,190,"非编码区",14200,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",55347,"3q13.2","NM_018394.2"]
["12307A(99)v30759",1,1,1,"12307A","ABHD11","chr7:73150694","m.1029A>C(E5)","非编码区","rs1136954",0.61,0.56,0.55,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD11",1,40,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",83451,"7q11.23","NM_001145364.1"]
["12307A(99)v30760",21,21,1,"12307A","ABHD11","chr7:73151644","c.540A>G(E4)","p.180,Y>Y","rs6460052",0.6,0.56,0.55,0.58,0.49,0.53,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD11",1,40,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",83451,"7q11.23","NM_148912.2"]
["12307A(99)v16663",26,26,1,"12307A","ABHD12","chr20:25282944","c.1068A>G(E12)","p.356,D>D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,130,"同义",13203,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12307A(99)v16664",38,38,1,"12307A","ABHD12","chr20:25281398","m.1559C>T(E13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,130,"非编码区",14200,"1.00=57/57","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12307A(99)v16665",15,15,1,"12307A","ABHD12","chr20:25281333","m.1624G>A(E13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,130,"非编码区",14200,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12307A(99)v16666",27,19,0.7,"12307A","ABHD12","chr20:25275554-25275559","m.1549(E13)至m.1544(E13):缺失TTAGTT","非编码区","rs16436",0.61,0.95,0.93,0.97,0.74,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,4,3,4,1,"ABHD12",0.85,130,"非编码区",2420,"0.70=19/27","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_015600.4"]
["12307A(99)v22820",90,90,1,"12307A","ABHD12B","chr14:51371150","m.1170C>T(E13)","非编码区","rs11157781",0.28,0.46,0.47,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"非编码区",14200,"1.00=147/147","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12307A(99)v22821",132,131,0.99,"12307A","ABHD12B","chr14:51371130","m.1150C>T(E13)","非编码区","rs11157780",0.25,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"非编码区",14200,"1.00=226/227","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12307A(99)v22822",141,141,1,"12307A","ABHD12B","chr14:51371121","m.1141C>T(E13)","非编码区","rs4901065",0.28,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"非编码区",14200,"1.00=250/250","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12307A(99)v22823",111,110,0.99,"12307A","ABHD12B","chr14:51370784","IVS11-8G>C","剪切位点","rs4901064",0.28,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"剪切位点",16202,"0.99=194/195","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12307A(99)v22824",248,248,1,"12307A","ABHD12B","chr14:51368610","c.844A>G(E10)","p.282,I>V","rs28564871",0.28,0.46,0.47,0.46,0.45,0.44,"纯合","无关","有疾病相关报道，MAF>=5%","16959974;",{"$nulls":3},5,null,6,0,"ABHD12B",0.84,190,"错义",11200,"1.00=493/495","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12307A(99)v22825",72,36,0.5,"12307A","ABHD12B","chr14:51352608","c.657T>C(E7)","p.219,G>G","rs2297893",0.1,0.16,0.19,0.14,0.18,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"同义",13203,"0.46=56/122","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12307A(99)v28599",33,33,1,"12307A","ABHD15","chr17:27889578","m.1466T>C(E2)","非编码区","rs539307",0.74,0.95,0.94,0.95,0.9,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABHD15",0.81,21,"非编码区",14200,"1.00=50/50","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12307A(99)v28600",8,8,1,"12307A","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%",{"$nulls":4},5,null,3,0,"ABHD15",0.81,21,"错义",12220,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12307A(99)v28601",1,1,1,"12307A","ABHD15","chr17:27893679","c.306G>T(E1)","p.102,S>S",{"$nulls":7},"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ABHD15",0.81,21,"同义",13403,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12307A(99)v24436",10,10,1,"12307A","ABHD2","chr15:89744004","m.7546C>T(E15)","非编码区","rs7179900",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD2",1,130,"非编码区",14200,"1.00=15/15","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011.7"]
["12307A(99)v24437",117,117,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ABHD2",1,130,"非编码区",14200,"1.00=195/195","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011.7"]
["12307A(99)v2704",1,1,1,"12307A","ABHD8","chr19:17412366","c.60G>A(E2)","p.20,A>A","rs11086066",0.24,0.11,0.09,0.13,0.11,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD8",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",79575,"19p13.11","NM_024527.4"]
["12307A(99)v2705",2,2,1,"12307A","ABHD8","chr19:17412399","c.27G>A(E2)","p.9,I>I","rs11086067",0.24,0.11,0.09,0.13,0.12,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD8",0.92,14,"同义",13203,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",79575,"19p13.11","NM_024527.4"]
["12307A(99)v1798",9,1,0.11,"12307A","ABI3","chr17:47297556","c.652C>A(E6)","p.218,P>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ABI3",1,42,"错义",12420,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",51225,"17q21.3","NM_001135186.1"]
["12307A(99)v1799",9,1,0.11,"12307A","ABI3","chr17:47297626","c.722C>A(E6)","p.241,P>Q",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ABI3",1,42,"错义",12410,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",51225,"17q21.3","NM_001135186.1"]
["12307A(99)v1800",6,6,1,"12307A","ABI3","chr17:47297297","c.608T>C(E5)","p.203,F>S","rs616338",1,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABI3",1,42,"错义",12230,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",51225,"17q21.3","NM_001135186.1"]
["12307A(99)v5407",68,67,0.99,"12307A","ABI3BP","chr3:100617680","c.408C>T(E4)","p.136,S>S","rs2245370",0.73,0.92,0.95,0.89,0.88,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3BP",1,310,"同义",13203,"0.99=133/135","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429.3"]
["12307A(99)v5408",63,34,0.54,"12307A","ABI3BP","chr3:100712249","c.1T>C(E1)","p.1,M>V","rs3732895",0.24,0.44,0.41,0.48,0.49,0.45,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,2,0,"ABI3BP",1,310,"错义",18220,"0.56=61/109","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429.3"]
["12307A(99)v2645",14,14,1,"12307A","ABL1","chr9:133761001","c.3324A>G(E11)","p.1108,P>P","rs1056171",0.65,0.61,0.61,0.61,0.54,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABL1",1,77,"同义",13203,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12307A(99)v2646",11,10,0.91,"12307A","ABL1","chr9:133710819-133710820","UTR:插入C","非编码区","rs67372388",1,1,1,1,0.8,1,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,2,0,"ABL1",1,77,"非编码区",2600,"0.92=11/12","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12307A(99)v19896",6,3,0.5,"12307A","ABLIM1","chr10:116195776","m.2702C>G(E23)","非编码区","rs1057139",0.66,0.63,0.59,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABLIM1",1,200,"非编码区",14200,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003407.1"]
["12307A(99)v19897",37,19,0.51,"12307A","ABLIM1","chr10:116307504","c.525A>G(E5)","p.175,N>N","rs2247528",0.78,0.66,0.63,0.69,0.63,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABLIM1",1,200,"同义",13203,"0.52=34/65","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003407.1"]
["12307A(99)v5739",60,60,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"剪切位点",16202,"1.00=111/111","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12307A(99)v5740",61,61,1,"12307A","ABLIM2","chr4:8062690","IVS7+4G>A","剪切位点","rs10938683",0.7,0.94,0.96,0.92,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"剪切位点",16202,"1.00=112/112","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12307A(99)v5741",31,31,1,"12307A","ABLIM2","chr4:8009737","m.1588C>T(E14)","非编码区","rs16841552",0.17,0.3,0.3,0.31,null,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"非编码区",14200,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130088.1"]
["12307A(99)v5742",32,12,0.38,"12307A","ABLIM2","chr4:8031471","c.1080A>G(E11)","p.360,C>C","rs2385904",0.73,0.78,0.79,0.77,0.73,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"同义",13203,"0.39=21/54","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12307A(99)v5743",44,44,1,"12307A","ABLIM2","chr4:8009759","m.1566G>A(E14)","非编码区","rs17180256",0.77,0.78,0.78,0.78,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"非编码区",14200,"0.96=66/69","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130088.1"]
["12307A(99)v20623",43,23,0.53,"12307A","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,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.51=41/81","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20624",38,15,0.39,"12307A","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,616093,5,2,10,1,"ABO",0.97,48,"同义",13203,"0.39=26/67","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20625",3,2,0.67,"12307A","ABO","chr9:136131289","c.828C>T(E7)","p.276,R>R","rs8176748",0.27,0.25,0.26,0.23,0.18,0.27,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"同义",13203,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20626",95,45,0.47,"12307A","ABO","chr9:136133531","IVS4-9A>G","剪切位点","rs4962040",0.31,0.34,0.31,0.37,0.3,0.34,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"剪切位点",16202,"0.49=80/164","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20627",7,4,0.57,"12307A","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,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.67=8/12","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20628",9,5,0.56,"12307A","ABO","chr9:136131472","c.645A>T(E7)","p.215,S>R","rs8176740",0.27,0.25,0.26,0.23,0.2,0.25,"杂合","无关","有rs号，MAF>=5%","19169360;24743543","ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.60=9/15","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20629",98,44,0.45,"12307A","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,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.48=81/170","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20630",42,19,0.45,"12307A","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,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.49=39/79","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20631",38,15,0.39,"12307A","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,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.39=26/67","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v20632",5,2,0.4,"12307A","ABO","chr9:136131347","c.770G>A(E7)","p.257,P>L","rs8176745",0.27,0.25,0.26,0.23,0.18,0.32,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"错义",12210,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12307A(99)v30944",26,9,0.35,"12307A","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,8,0,"ABP1",0.98,58,"同义",13203,"0.26=12/46","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12307A(99)v30945",71,37,0.52,"12307A","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,{"$nulls":3},5,null,8,0,"ABP1",0.98,58,"同义",13203,"0.55=72/131","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12307A(99)v30946",49,26,0.53,"12307A","ABP1","chr7:150557665","c.1933C>G(E4)","p.645,H>D","rs1049793",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%","19450133;19670078",{"$nulls":3},5,null,8,0,"ABP1",0.98,58,"错义",12220,"0.53=45/85","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12307A(99)v30947",16,16,1,"12307A","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%",{"$nulls":4},5,null,8,0,"ABP1",0.98,58,"同义",13203,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12307A(99)v30948",35,17,0.49,"12307A","ABP1","chr7:150555915","c.1635A>G(E3)","p.545,P>P","rs10893",0.46,0.49,0.49,0.5,0.49,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABP1",0.98,58,"同义",13203,"0.48=30/63","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12307A(99)v30949",16,16,1,"12307A","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%",{"$nulls":4},5,null,8,0,"ABP1",0.98,58,"错义",12220,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12307A(99)v30950",42,21,0.5,"12307A","ABP1","chr7:150557622","c.1890G>A(E4)","p.630,S>S","rs12179",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABP1",0.98,58,"同义",13203,"0.56=44/79","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12307A(99)v30951",31,18,0.58,"12307A","ABP1","chr7:150554255","c.697G>A(E2)","p.233,V>M","rs201353384",1E-3,0.0048,0.0095,0,0.0034,0.0064,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"ABP1",0.98,58,"错义",12120,"0.56=35/62","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12307A(99)v417",23,23,1,"12307A","ABR","chr17:970413","c.975C>T(E9)","p.325,E>E","rs2262150",0.9,0.97,0.97,0.97,0.92,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABR",0.96,74,"同义",13203,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001092.4"]
["12307A(99)v25618",77,77,1,"12307A","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%",{"$nulls":4},5,null,1,0,"ABT1",1,64,"同义",13203,"1.00=158/158","位于基因组多拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375.3"]
["12307A(99)v3805",5,1,0.2,"12307A","ABTB1","chr3:127399302","c.995T>C(E12)","p.332,I>T",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ABTB1",0.98,30,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",80325,"3q21","NM_032548.3"]
["12307A(99)v22728",70,35,0.5,"12307A","ACAA1","chr3:38170810","c.516C>G(E6)","p.172,E>D","rs156265",0.14,0.34,0.3,0.38,0.36,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACAA1",0.91,79,"错义",12220,"0.52=62/120","位于基因组单拷贝区域+DNA结构正常",30,"3p22.2","NM_001607.3"]
["12307A(99)v4281",119,55,0.46,"12307A","ACACA","chr17:35696804","c.45G>A(E2)","p.15,F>F","rs58654829",null,0.7,0.69,0.72,0.69,0.7,"杂合","未知","预测范围之外的同义突变",null,"乙酰CoA羧化酶缺陷症","AR",613933,4,3,3,1,"ACACA",1,240,"同义",13303,"0.46=95/206","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198834.1"]
["12307A(99)v4282",110,110,1,"12307A","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",613933,5,1,3,1,"ACACA",1,240,"同义",13203,"1.00=209/209","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198834.1"]
["12307A(99)v4283",193,101,0.52,"12307A","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",613933,5,3,3,1,"ACACA",1,240,"同义",13203,"0.53=173/324","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198834.1"]
["12307A(99)v27059",24,24,1,"12307A","ACACB","chr12:109670468","IVS27-6T>C","剪切位点","rs3742027",0.87,0.69,0.7,0.67,null,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"剪切位点",16202,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12307A(99)v27060",33,33,1,"12307A","ACACB","chr12:109577735","c.525C>T(E1)","p.175,S>S","rs2878960",0.4,0.26,0.23,0.3,0.24,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=51/51","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12307A(99)v27061",125,125,1,"12307A","ACACB","chr12:109629457","c.2184C>T(E13)","p.728,G>G","rs7135947",0.38,0.26,0.23,0.3,0.27,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"0.99=259/261","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12307A(99)v27062",52,52,1,"12307A","ACACB","chr12:109617865","c.1791T>C(E10)","p.597,D>D","rs11065772",0.68,0.74,0.7,0.78,0.77,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=81/81","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12307A(99)v27063",91,91,1,"12307A","ACACB","chr12:109696838","c.6421G>A(E46)","p.2141,V>I","rs2075260",0.74,0.69,0.69,0.68,0.71,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"错义",12220,"0.99=175/176","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12307A(99)v27064",84,84,1,"12307A","ACACB","chr12:109675029","c.4506T>C(E33)","p.1502,L>L","rs2241220",0.78,0.69,0.69,0.68,0.69,0.74,"纯合","无关","有rs号，MAF>=5%","18031993;19846279",{"$nulls":3},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12307A(99)v22818",7,2,0.29,"12307A","ACAD10","chr12:112191641","c.2976G>A(E20)","p.992,A>A","rs2074055",0.2,0.59,0.61,0.57,0.52,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,150,"同义",13203,"0.21=3/14","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538.1"]
["12307A(99)v22819",35,19,0.54,"12307A","ACAD10","chr12:112130708","IVS2+8A>G","非编码区","rs7132509",0.2,0.59,0.61,0.57,null,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,150,"非编码区",16203,"0.61=31/51","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538.1"]
["12307A(99)v959",192,192,1,"12307A","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,1,0,"ACAD11",1,290,"错义",12230,"0.99=335/337","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169.4"]
["12307A(99)v30095",61,36,0.59,"12307A","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",1,120,"同义",13203,"0.58=61/105","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12307A(99)v30096",19,9,0.47,"12307A","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",1,120,"剪切位点",16202,"0.42=14/33","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12307A(99)v30097",23,6,0.26,"12307A","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",1,120,"同义",13203,"0.30=11/37","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12307A(99)v13744",7,5,0.71,"12307A","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",201470,5,3,1,1,"ACADS",0.96,29,"同义",13203,"0.76=13/17","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017.2"]
["12307A(99)v14159",5,3,0.6,"12307A","ACADSB","chr10:124813543","m.1678C>T(E11)","非编码区","rs12248515",0.44,0.65,0.59,0.7,null,null,"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",0.97,270,"非编码区",14200,"0.60=3/5","位于基因组多拷贝区域+DNA结构正常",36,"10q26.13","NM_001609.3"]
["12307A(99)v17205",30,30,1,"12307A","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",0.94,71,"剪切位点",16201,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",37,"17p13.1","NM_000018.3"]
["12307A(99)v9779",75,47,0.63,"12307A","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",1,89,"同义",13203,"0.62=80/130","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9779",75,47,0.63,"12307A","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",1,89,"同义",13203,"0.62=80/130","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9779",75,47,0.63,"12307A","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",1,89,"同义",13203,"0.62=80/130","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9780",39,39,1,"12307A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"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",1,89,"错义",12220,"1.00=58/58","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9780",39,39,1,"12307A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"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",1,89,"错义",12220,"1.00=58/58","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9780",39,39,1,"12307A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"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",1,89,"错义",12220,"1.00=58/58","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9781",72,25,0.35,"12307A","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",1,89,"错义",12220,"0.34=44/129","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9781",72,25,0.35,"12307A","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",1,89,"错义",12220,"0.34=44/129","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9781",72,25,0.35,"12307A","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",1,89,"错义",12220,"0.34=44/129","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9782",81,37,0.46,"12307A","ACAN","chr15:89398763","c.2947G>C(E12)","p.983,E>Q","rs145274175",0.0008,0.0048,0,0.0097,0.011,0.0072,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,3,1,12,3,"ACAN",1,89,"错义",12120,"0.49=76/156","位于基因组多拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9782",81,37,0.46,"12307A","ACAN","chr15:89398763","c.2947G>C(E12)","p.983,E>Q","rs145274175",0.0008,0.0048,0,0.0097,0.011,0.0072,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Kimberley型脊椎骨骺发育不良","AD",608361,3,1,12,3,"ACAN",1,89,"错义",12120,"0.49=76/156","位于基因组多拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9782",81,37,0.46,"12307A","ACAN","chr15:89398763","c.2947G>C(E12)","p.983,E>Q","rs145274175",0.0008,0.0048,0,0.0097,0.011,0.0072,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,3,2,12,3,"ACAN",1,89,"错义",12120,"0.49=76/156","位于基因组多拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9783",30,14,0.47,"12307A","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",1,89,"错义",12210,"0.52=22/42","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9783",30,14,0.47,"12307A","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",1,89,"错义",12210,"0.52=22/42","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9783",30,14,0.47,"12307A","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",1,89,"错义",12210,"0.52=22/42","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9784",9,9,1,"12307A","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",1,89,"同义",13203,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9784",9,9,1,"12307A","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",1,89,"同义",13203,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9784",9,9,1,"12307A","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",1,89,"同义",13203,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9785",35,35,1,"12307A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"纯合","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",1,89,"同义",13203,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9785",35,35,1,"12307A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"纯合","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",1,89,"同义",13203,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9785",35,35,1,"12307A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"纯合","无关","有rs号，MAF>=5%",19180518,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,12,3,"ACAN",1,89,"同义",13203,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9786",12,6,0.5,"12307A","ACAN","chr15:89392775","c.1839C>T(E10)","p.613,A>A","rs188044698",0.0008,0.0048,0,0.0097,0.01,0.0084,"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",1,89,"同义",13103,"0.58=11/19","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9786",12,6,0.5,"12307A","ACAN","chr15:89392775","c.1839C>T(E10)","p.613,A>A","rs188044698",0.0008,0.0048,0,0.0097,0.01,0.0084,"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",1,89,"同义",13103,"0.58=11/19","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9786",12,6,0.5,"12307A","ACAN","chr15:89392775","c.1839C>T(E10)","p.613,A>A","rs188044698",0.0008,0.0048,0,0.0097,0.01,0.0084,"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",1,89,"同义",13103,"0.58=11/19","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9787",20,5,0.25,"12307A","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",1,89,"错义",12220,"0.23=7/31","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227.3"]
["12307A(99)v9787",20,5,0.25,"12307A","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",1,89,"错义",12220,"0.23=7/31","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227.3"]
["12307A(99)v9787",20,5,0.25,"12307A","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",1,89,"错义",12220,"0.23=7/31","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227.3"]
["12307A(99)v9788",89,89,1,"12307A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"纯合","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",1,89,"同义",13303,"1.00=155/155","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9788",89,89,1,"12307A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"纯合","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",1,89,"同义",13303,"1.00=155/155","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9788",89,89,1,"12307A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"纯合","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,612813,4,1,12,3,"ACAN",1,89,"同义",13303,"1.00=155/155","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9789",34,15,0.44,"12307A","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",1,89,"同义",13203,"0.36=19/53","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9789",34,15,0.44,"12307A","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",1,89,"同义",13203,"0.36=19/53","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9789",34,15,0.44,"12307A","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",1,89,"同义",13203,"0.36=19/53","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9790",61,25,0.41,"12307A","ACAN","chr15:89398820","c.3004G>C(E12)","p.1002,E>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,3,1,12,3,"ACAN",1,89,"错义",12420,"0.42=42/99","位于基因组多拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9790",61,25,0.41,"12307A","ACAN","chr15:89398820","c.3004G>C(E12)","p.1002,E>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Kimberley型脊椎骨骺发育不良","AD",608361,3,1,12,3,"ACAN",1,89,"错义",12420,"0.42=42/99","位于基因组多拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v9790",61,25,0.41,"12307A","ACAN","chr15:89398820","c.3004G>C(E12)","p.1002,E>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,3,2,12,3,"ACAN",1,89,"错义",12420,"0.42=42/99","位于基因组多拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12307A(99)v22048",15,1,0.07,"12307A","ACAP1","chr17:7250214","c.1095G>T(E13)","p.365,Q>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,"ACAP1",1,62,"错义",12410,"0.17=4/24","位于基因组单拷贝区域+DNA结构正常",9744,"17p13.1","NM_014716.3"]
["12307A(99)v22049",7,3,0.43,"12307A","ACAP1","chr17:7239877","m.30T>C(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,"ACAP1",1,62,"非编码区",14400,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",9744,"17p13.1","NM_014716.3"]
["12307A(99)v3136",71,71,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ACAP2",1,320,"非编码区",14200,"0.99=113/114","位于基因组单拷贝区域+DNA结构正常",23527,"3q29","NM_012287.5"]
["12307A(99)v3137",4,2,0.5,"12307A","ACAP2","chr3:194999846-194999846","m.2789(E23):缺失T","非编码区","rs149109156",0.034,0.0096,0.0095,0.0097,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ACAP2",1,320,"非编码区",2410,"0.50=2/4","位于基因组单拷贝区域+简单重复结构",23527,"3q29","NM_012287.5"]
["12307A(99)v17172",35,34,0.97,"12307A","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%",{"$nulls":4},5,null,4,0,"ACAP3",0.84,14,"剪切位点",16202,"0.98=47/48","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649.2"]
["12307A(99)v17173",8,1,0.12,"12307A","ACAP3","chr1:1236041","c.370G>T(E6)","p.124,Q>K",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ACAP3",0.84,14,"错义",12410,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649.2"]
["12307A(99)v17174",10,1,0.1,"12307A","ACAP3","chr1:1233742","IVS12+8G>T","非编码区",{"$nulls":7},"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"ACAP3",0.84,14,"非编码区",16403,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649.2"]
["12307A(99)v17175",3,2,0.67,"12307A","ACAP3","chr1:1231656","c.1342G>A(E16)","p.448,L>L","rs1749951",0.05,0.062,0.057,0.068,0.089,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACAP3",0.84,14,"同义",13203,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649.2"]
["12307A(99)v30394",93,93,1,"12307A","ACAT2","chr6:160199687","IVS8-4T>C","剪切位点","rs15982",0.68,0.57,0.57,0.56,null,0.58,"纯合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,1,3,1,"ACAT2",1,170,"剪切位点",16202,"1.00=163/163","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12307A(99)v30395",75,75,1,"12307A","ACAT2","chr6:160200026","m.1490A>C(E9)","非编码区","rs4832",0.26,0.43,0.42,0.43,null,0.4,"纯合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,1,3,1,"ACAT2",1,170,"非编码区",14200,"1.00=112/112","位于基因组多拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12307A(99)v30396",126,126,1,"12307A","ACAT2","chr6:160198359","c.783C>T(E7)","p.261,V>V","rs3464",0.26,0.43,0.42,0.43,0.42,0.39,"纯合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,1,3,1,"ACAT2",1,170,"同义",13203,"1.00=216/216","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12307A(99)v22936",20,1,0.05,"12307A","ACBD4","chr17:43213606","IVS4+7C>A","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,1,0,"ACBD4",0.97,58,"非编码区",16403,"0.11=4/36","位于基因组单拷贝区域+DNA结构正常",79777,"17q21.31","NM_001135704.1"]
["12307A(99)v4458",24,15,0.62,"12307A","ACBD5","chr10:27529549","m.260C>A(E1)","非编码区","rs2797078",0.68,0.51,0.48,0.54,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACBD5",1,250,"非编码区",14200,"0.66=23/35","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512.1"]
["12307A(99)v4459",26,26,1,"12307A","ACBD5","chr10:27529565","m.244T>C(E1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACBD5",1,250,"非编码区",14200,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512.1"]
["12307A(99)v4460",155,75,0.48,"12307A","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%",{"$nulls":4},5,null,3,0,"ACBD5",1,250,"同义",13203,"0.46=141/306","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001042473.2"]
["12307A(99)v4949",118,118,1,"12307A","ACCS","chr11:44096238","IVS5+7G>A","非编码区","rs178521",0.77,0.94,0.95,0.94,0.94,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACCS",1,96,"非编码区",16203,"1.00=224/225","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_001127219.1"]
["12307A(99)v4950",68,32,0.47,"12307A","ACCS","chr11:44089352","c.175G>A(E2)","p.59,D>N","rs33952257",0.27,0.36,0.35,0.37,0.37,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACCS",1,96,"错义",12220,"0.49=60/122","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_001127219.1"]
["12307A(99)v4951",52,51,0.98,"12307A","ACCS","chr11:44104981","c.1262C>T(E14)","p.421,P>L","rs3107275",0.4,0.53,0.54,0.51,0.49,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACCS",1,96,"错义",12210,"0.99=85/86","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_001127219.1"]
["12307A(99)v4952",79,39,0.49,"12307A","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%",{"$nulls":4},5,null,4,0,"ACCS",1,96,"同义",13203,"0.51=59/115","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_001127219.1"]
["12307A(99)v27536",70,70,1,"12307A","ACCSL","chr11:44080210","c.1585T>C(E13)","p.529,C>R","rs2074051",0.79,0.87,0.87,0.88,0.86,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACCSL",1,140,"错义",12220,"1.00=108/108","位于基因组单拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854.2"]
["12307A(99)v27537",31,1,0.03,"12307A","ACCSL","chr11:44069710","c.124G>T(E1)","p.42,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,2,0,"ACCSL",1,140,"截断",15400,"0.11=6/53","位于基因组多拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854.2"]
["12307A(99)v25387",253,112,0.44,"12307A","ACE2","chrX:15610348","IVS4+4C>T","剪切位点","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ACE2",1,350,"剪切位点",16302,"0.44=195/440","位于基因组单拷贝区域+DNA结构正常",59272,"Xp22","NM_021804.2"]
["12307A(99)v1885",175,175,1,"12307A","ACER3","chr11:76701606","c.426G>A(E6)","p.142,P>P","rs3740767",0.53,0.66,0.64,0.67,0.67,0.67,"纯合","无关","有rs号，MAF>=5%",19586928,{"$nulls":3},5,null,5,0,"ACER3",1,320,"同义",13203,"0.99=343/345","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367.5"]
["12307A(99)v1886",270,270,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ACER3",1,320,"同义",13203,"1.00=561/561","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367.5"]
["12307A(99)v1887",281,280,1,"12307A","ACER3","chr11:76637651","c.154G>A(E2)","p.52,V>I","rs4379869",0.63,0.6,0.57,0.63,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACER3",1,320,"错义",12220,"1.00=580/582","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367.5"]
["12307A(99)v1888",4,1,0.25,"12307A","ACER3","chr11:76572009","m.93G>T(E1)","非编码区","rs374042980",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ACER3",1,320,"非编码区",14300,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367.5"]
["12307A(99)v1889",5,1,0.2,"12307A","ACER3","chr11:76572024","c.4G>A(E1)","p.2,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,5,0,"ACER3",1,320,"错义",12420,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367.5"]
["12307A(99)v30788",41,20,0.49,"12307A","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%",{"$nulls":4},5,null,8,0,"ACIN1",1,110,"错义",12220,"0.45=33/73","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12307A(99)v30789",69,35,0.51,"12307A","ACIN1","chr14:23548929","c.1789C>T(E6)","p.597,D>N","rs562966424",0.0002,0,0,0,null,1E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"ACIN1",1,110,"错义",12120,"0.47=48/102","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12307A(99)v30790",121,57,0.47,"12307A","ACIN1","chr14:23549785","c.933T>C(E6)","p.311,I>M","rs3811182",0.5,0.46,0.49,0.44,0.45,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,110,"错义",12220,"0.46=102/220","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12307A(99)v30791",35,35,1,"12307A","ACIN1","chr14:23549379","c.1339C>G(E6)","p.447,A>P","rs941719",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,110,"错义",12230,"1.00=55/55","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12307A(99)v30792",45,23,0.51,"12307A","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,{"$nulls":3},5,null,8,0,"ACIN1",1,110,"错义",12220,"0.49=36/74","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12307A(99)v30793",36,22,0.61,"12307A","ACIN1","chr14:23549383","c.1335G>T(E6)","p.445,A>A","rs45510791",0.052,0.13,0.13,0.12,0.1,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,110,"同义",13203,"0.56=31/55","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12307A(99)v30794",60,12,0.2,"12307A","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",{"$nulls":4},4,null,8,0,"ACIN1",1,110,"插入非移码",2222,"0.22=14/64","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12307A(99)v30795",113,25,0.22,"12307A","ACIN1","chr14:23549879-23549881","c.839(E6)至c.837(E6):缺失TCC","缺失非移码","rs3841035",0.11,0.2,0.21,0.18,0.0089,null,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ACIN1",1,110,"缺失非移码",2222,"0.20=25/122","位于基因组单拷贝区域+简单重复结构",22985,"14q11.2","NM_001164814.1"]
["12307A(99)v17479",57,57,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ACLY",1,120,"同义",13203,"1.00=102/102","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096.2"]
["12307A(99)v17480",75,75,1,"12307A","ACLY","chr17:40024023","m.3509A>T(E29)","非编码区","rs7217218",0.92,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACLY",1,120,"非编码区",14200,"1.00=113/113","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096.2"]
["12307A(99)v31084",4,4,1,"12307A","ACN9","chr7:96810729","m.1711G>A(E2)","非编码区","rs13475",0.56,0.52,0.51,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACN9",1,240,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",57001,"7q21.3","NM_020186.2"]
["12307A(99)v13370",20,20,1,"12307A","ACO1","chr9:32450187","m.2903T>C(E21)","非编码区","rs12985",0.4,0.54,0.53,0.54,null,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACO1",1,230,"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"]
["12307A(99)v13371",94,94,1,"12307A","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",{"$nulls":3},5,null,2,0,"ACO1",1,230,"同义",13203,"1.00=175/175","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197.2"]
["12307A(99)v951",10,2,0.2,"12307A","ACO2","chr22:41903813","c.192A>C(E3)","p.64,T>T","rs137831",0.42,0.6,0.62,0.57,0.46,0.55,"杂合","无关","有rs号，MAF>=5%",null,"婴儿大脑-视网膜退化症","AR",614559,5,3,2,1,"ACO2",1,77,"同义",13203,"0.20=3/15","位于基因组多拷贝区域+DNA结构正常",50,"22q13.2","NM_001098.2"]
["12307A(99)v952",10,1,0.1,"12307A","ACO2","chr22:41904061","IVS3+8G>T","非编码区","rs11705367",{"$nulls":6},"杂合","未知","内含子突变可能影响调控",null,"婴儿大脑-视网膜退化症","AR",614559,4,3,2,1,"ACO2",1,77,"非编码区",16303,"0.20=4/20","位于基因组单拷贝区域+DNA结构正常",50,"22q13.2","NM_001098.2"]
["12307A(99)v2385",13,5,0.38,"12307A","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%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,49,"错义",12220,"0.45=10/22","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12307A(99)v2386",19,11,0.58,"12307A","ACOT11","chr1:55075993","m.3169G>A(E16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,49,"非编码区",14200,"0.62=16/26","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161.3"]
["12307A(99)v2387",69,31,0.45,"12307A","ACOT11","chr1:55074705","c.1705T>A(E16)","p.569,F>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,6,0,"ACOT11",0.98,49,"错义",12420,"0.41=51/123","位于基因组多拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161.3"]
["12307A(99)v2388",20,11,0.55,"12307A","ACOT11","chr1:55062960","c.636G>A(E7)","p.212,M>I","rs2304305",0.03,0.091,0.1,0.083,0.095,0.13,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"ACOT11",0.98,49,"错义",12120,"0.44=15/34","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12307A(99)v2389",17,11,0.65,"12307A","ACOT11","chr1:55075062","m.2238C>T(E16)","非编码区","rs2289015",0.08,0.18,0.14,0.22,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,49,"非编码区",14200,"0.59=20/34","位于基因组多拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161.3"]
["12307A(99)v2390",2,2,1,"12307A","ACOT11","chr1:55060251","c.494C>T(E6)","p.165,P>L","rs2304306",0.081,0.19,0.16,0.22,0.16,0.18,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,49,"错义",12210,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12307A(99)v10301",77,37,0.48,"12307A","ACOT13","chr6:24687765","m.443A>G(E2)","非编码区","rs926529",0.8,0.87,0.88,0.85,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,260,"非编码区",14200,"0.50=59/118","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094.1"]
["12307A(99)v10302",9,7,0.78,"12307A","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%",{"$nulls":4},5,null,2,0,"ACOT13",1,260,"非编码区",14200,"0.80=8/10","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094.1"]
["12307A(99)v1028",17,17,1,"12307A","ACOT2","chr14:74041748","c.983A>G(E3)","p.328,H>R","rs149033118",{"$nulls":4},0.86,0.93,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ACOT2",0.86,82,"错义",12310,"1.00=20/20","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821.5"]
["12307A(99)v1029",59,59,1,"12307A","ACOT2","chr14:74042189","c.1424A>G(E3)","p.475,H>R","rs7494",{"$nulls":4},0.76,0.8,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACOT2",0.86,82,"错义",12320,"1.00=96/96","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821.5"]
["12307A(99)v23448",75,75,1,"12307A","ACOT4","chr14:74061968","c.876T>C(E3)","p.292,I>I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACOT4",1,110,"同义",13203,"1.00=122/122","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331.3"]
["12307A(99)v10107",85,43,0.51,"12307A","ACOT6","chr14:74083901","IVS1+5G>A","剪切位点","rs17128948",0.16,0.2,0.21,0.18,0.19,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT6",1,150,"剪切位点",16201,"0.48=72/149","位于基因组单拷贝区域+DNA结构正常",641372,"14q24.3","NM_001037162.1"]
["12307A(99)v10108",77,38,0.49,"12307A","ACOT6","chr14:74083846","m.299C>T(E1)","非编码区","rs12891009",0.46,0.65,0.64,0.66,0.64,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT6",1,150,"非编码区",14200,"0.49=68/138","位于基因组单拷贝区域+DNA结构正常",641372,"14q24.3","NM_001037162.1"]
["12307A(99)v27448",6,1,0.17,"12307A","ACOT8","chr20:44485924","c.31G>A(E1)","p.11,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,1,0,"ACOT8",1,76,"截断",15400,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",10005,"20q13.12","NM_005469.3"]
["12307A(99)v12629",8,1,0.12,"12307A","ACOX1","chr17:73975171","m.345C>T(E1)","非编码区",{"$nulls":5},1.5E-3,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,3,3,2,1,"ACOX1",1,180,"非编码区",14400,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",51,"17q25.1","NM_001185039.1"]
["12307A(99)v12630",55,55,1,"12307A","ACOX1","chr17:73949540","c.822G>C(E7)","p.274,I>M","rs1135640",0.55,0.79,0.82,0.77,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,5,1,2,1,"ACOX1",1,180,"错义",12220,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",51,"17q25.1","NM_001185039.1"]
["12307A(99)v7693",26,7,0.27,"12307A","ACOX2","chr3:58512237","c.1302A>G(E10)","p.434,C>C","rs1127745",0.28,0.23,0.25,0.21,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"同义",13203,"0.22=8/37","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12307A(99)v7694",28,13,0.46,"12307A","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%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"同义",13203,"0.52=25/48","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12307A(99)v7695",50,50,1,"12307A","ACOX2","chr3:58520859","m.150A>G(E2)","非编码区","rs4681862",0.87,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"非编码区",14200,"1.00=105/105","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12307A(99)v17902",46,20,0.43,"12307A","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%",{"$nulls":4},5,null,1,0,"ACOX3",0.97,110,"非编码区",14200,"0.43=29/68","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_001101667.1"]
["12307A(99)v19174",106,50,0.47,"12307A","ACOXL","chr2:111551298","c.231G>T(E4)","p.77,W>C",{"$nulls":6},1.2E-4,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ACOXL",1,170,"错义",12410,"0.43=84/197","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807.1"]
["12307A(99)v19175",142,69,0.49,"12307A","ACOXL","chr2:111850515","c.1514C>T(E17)","p.505,P>L","rs17041850",0.074,0.26,0.3,0.22,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,170,"错义",12210,"0.46=118/255","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807.1"]
["12307A(99)v19176",146,76,0.52,"12307A","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%",{"$nulls":4},5,null,3,0,"ACOXL",1,170,"错义",12210,"0.54=138/255","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807.1"]
["12307A(99)v3144",13,13,1,"12307A","ACP1","chr2:264895","m.27G>C(E1)","非编码区","rs4854300",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACP1",1,220,"非编码区",14200,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_001040649.2"]
["12307A(99)v12804",44,24,0.55,"12307A","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",1,73,"错义",12220,"0.59=49/83","位于基因组单拷贝区域+DNA结构正常",53,"11p11.2|11p12-p11","NM_001131064.1"]
["12307A(99)v26078",10,1,0.1,"12307A","ACP5","chr19:11687202","c.591C>T(E5)","p.197,E>E",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"脊柱软骨发育不全伴免疫失调","AD,AR",607944,4,1,1,1,"ACP5",1,49,"同义",13403,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",54,"19p13.3-p13.2","NM_001111034.1"]
["12307A(99)v11378",37,37,1,"12307A","ACP6","chr1:147124310","c.823T>G(E7)","p.275,R>R","rs2153463",{"$nulls":4},0.7,0.71,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ACP6",1,170,"同义",13303,"0.99=71/72","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12307A(99)v11379",2,1,0.5,"12307A","ACP6","chr1:147141961","c.210C>T(E1)","p.70,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ACP6",1,170,"同义",13403,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12307A(99)v11380",71,71,1,"12307A","ACP6","chr1:147121977","c.946C>T(E8)","p.316,V>M","rs6593795",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACP6",1,170,"错义",12220,"1.00=120/120","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12307A(99)v1684",78,32,0.41,"12307A","ACPL2","chr3:140997320","c.216C>T(E3)","p.72,S>S","rs11556022",0.089,0.06,0.038,0.083,0.066,0.071,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPL2",1,150,"同义",13203,"0.43=55/127","位于基因组单拷贝区域+DNA结构正常",92370,"3q23","NM_001037172.1"]
["12307A(99)v1685",29,11,0.38,"12307A","ACPL2","chr3:141011630","c.1026C>T(E6)","p.342,F>F","rs3210458",0.1,0.13,0.11,0.14,0.091,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPL2",1,150,"同义",13203,"0.38=15/40","位于基因组单拷贝区域+DNA结构正常",92370,"3q23","NM_001037172.1"]
["12307A(99)v21614",113,52,0.46,"12307A","ACPP","chr3:132051116","c.384T>C(E4)","p.128,G>G","rs144823139",3.8E-3,0.022,0.019,0.024,0.017,0.022,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACPP",1,240,"同义",13103,"0.43=90/211","位于基因组单拷贝区域+DNA结构正常",55,"3q22.1","NM_001099.4"]
["12307A(99)v21615",8,8,1,"12307A","ACPP","chr3:132086825","m.1506G>A(E11)","非编码区","rs2198765",0.52,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPP",1,240,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",55,"3q22.1","NM_001134194.1"]
["12307A(99)v12805",37,37,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ACPT",0.92,19,"错义",12220,"0.99=73/74","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068.2"]
["12307A(99)v12806",37,37,1,"12307A","ACPT","chr19:51297826","c.974C>A(E9)","p.325,A>D","rs55735528",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPT",0.92,19,"错义",12220,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068.2"]
["12307A(99)v2282",75,71,0.95,"12307A","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%",{"$nulls":4},5,null,2,0,"ACR",1,77,"错义",12220,"0.95=110/116","位于基因组多拷贝区域+DNA结构正常",49,"22q13.33","NM_001097.2"]
["12307A(99)v2283",60,28,0.47,"12307A","ACR","chr22:51182485","IVS3-4A>G","剪切位点","rs6009961",0.64,0.4,0.39,0.42,null,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,77,"剪切位点",16202,"0.46=48/105","位于基因组多拷贝区域+DNA结构正常",49,"22q13.33","NM_001097.2"]
["12307A(99)v13208",38,37,0.97,"12307A","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%",{"$nulls":4},5,null,2,0,"ACRBP",1,110,"剪切位点",16202,"0.98=53/54","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489.2"]
["12307A(99)v13209",14,14,1,"12307A","ACRBP","chr12:6747295","m.1833G>A(E10)","非编码区","rs1045553",0.64,0.59,0.59,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACRBP",1,110,"非编码区",14200,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489.2"]
["12307A(99)v20448",166,88,0.53,"12307A","ACRC","chrX:70832741","c.1985C>T(E13)","p.662,T>I","rs2280962",null,0.072,0.082,0.062,0.075,0.056,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ACRC",1,270,"错义",12310,"0.55=167/304","位于基因组单拷贝区域+DNA结构正常",93953,"Xq13.1","NM_052957.4"]
["12307A(99)v8362",129,63,0.49,"12307A","ACSBG2","chr19:6156483","c.428T>C(E5)","p.143,V>A","rs4807840",0.71,0.72,0.75,0.69,0.69,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSBG2",1,170,"错义",12220,"0.43=120/278","位于基因组单拷贝区域+DNA结构正常",81616,"19p13.3","NM_030924.3"]
["12307A(99)v2634",24,24,1,"12307A","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%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"1.00=30/30","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12307A(99)v2635",51,29,0.57,"12307A","ACSL1","chr4:185687863","c.1176A>G(E13)","p.392,F>F","rs11727009",0.21,0.24,0.23,0.25,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"同义",13203,"0.56=49/88","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12307A(99)v2636",83,83,1,"12307A","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%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"同义",13203,"1.00=156/156","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12307A(99)v2637",16,8,0.5,"12307A","ACSL1","chr4:185678110","m.2444A>G(E21)","非编码区","rs2292899",0.4,0.65,0.66,0.64,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"0.45=10/22","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12307A(99)v24160",140,140,1,"12307A","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%",{"$nulls":4},5,null,1,0,"ACSL3",1,340,"非编码区",16203,"1.00=239/239","位于基因组单拷贝区域+DNA结构正常",2181,"2q34-q35","NM_004457.3"]
["12307A(99)v21575",118,117,0.99,"12307A","ACSL5","chr10:114186624","IVS20+7G>A","非编码区","rs2256368",0.96,0.99,0.99,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSL5",1,220,"非编码区",16203,"0.99=203/205","位于基因组单拷贝区域+DNA结构正常",51703,"10q25.1-q25.2","NM_016234.3"]
["12307A(99)v22531",55,55,1,"12307A","ACSM1","chr16:20634775","m.1835T>C(E13)","非编码区","rs3087812",0.35,0.37,0.37,0.36,null,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,160,"非编码区",14200,"0.99=97/98","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12307A(99)v22532",90,89,0.99,"12307A","ACSM1","chr16:20648702","c.1188G>A(E8)","p.396,Y>Y","rs151328",0.35,0.37,0.38,0.35,0.38,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,160,"同义",13203,"0.99=180/181","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12307A(99)v22533",113,113,1,"12307A","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%",{"$nulls":4},5,null,3,0,"ACSM1",1,160,"同义",13203,"0.99=196/198","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12307A(99)v6476",149,149,1,"12307A","ACSM2A","chr16:20492000","c.1387A>G(E12)","p.463,N>D","rs146233716",0.83,0.77,0.71,0.83,0.87,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,300,"错义",12230,"1.00=205/205","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12307A(99)v6477",118,47,0.4,"12307A","ACSM2A","chr16:20477004","c.343C>T(E4)","p.115,R>X","rs59261767",0.046,0.21,0.18,0.25,0.17,0.2,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,6,0,"ACSM2A",1,300,"截断",15100,"0.39=74/189","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12307A(99)v6478",106,85,0.8,"12307A","ACSM2A","chr16:20476852","c.191T>C(E4)","p.64,L>P","rs7187246",0.51,0.73,0.68,0.78,0.65,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,300,"错义",12220,"0.81=136/167","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12307A(99)v6479",90,89,0.99,"12307A","ACSM2A","chr16:20498079","m.2052T>G(E15)","非编码区","rs2072080",0.79,0.6,0.63,0.57,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,300,"非编码区",14200,"0.99=132/134","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12307A(99)v6480",121,58,0.48,"12307A","ACSM2A","chr16:20494408","c.1538C>T(E14)","p.513,S>L","rs1133607",0.14,0.19,0.21,0.16,0.15,0.2,"杂合","无关","有rs号，MAF>=5%",20214591,{"$nulls":3},5,null,6,0,"ACSM2A",1,300,"错义",12210,"0.42=93/222","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12307A(99)v6481",213,174,0.82,"12307A","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%",{"$nulls":4},5,null,6,0,"ACSM2A",1,300,"同义",13203,"0.79=323/407","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12307A(99)v23826",242,110,0.45,"12307A","ACSM2B","chr16:20576048","c.120C>A(E2)","p.40,V>V","rs112352583",0.27,0.69,0.7,0.69,0.65,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"同义",13203,"0.47=229/487","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12307A(99)v23827",68,68,1,"12307A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"错义",12220,"1.00=93/93","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12307A(99)v23828",133,60,0.45,"12307A","ACSM2B","chr16:20552075","c.1530G>T(E13)","p.510,I>I","rs16970280",0.71,0.47,0.49,0.46,0.48,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"同义",13203,"0.46=117/254","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12307A(99)v23829",136,66,0.49,"12307A","ACSM2B","chr16:20554248","c.1497G>A(E12)","p.499,P>P","rs140717461",0.099,0.17,0.14,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"同义",13203,"0.46=106/232","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12307A(99)v23830",4,4,1,"12307A","ACSM2B","chr16:20548334","m.2155C>T(E14)","非编码区","rs7404298",0.81,0.67,0.72,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12307A(99)v23831",193,96,0.5,"12307A","ACSM2B","chr16:20563528","c.832T>C(E6)","p.278,T>A","rs77863699",0.15,0.17,0.14,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"错义",12220,"0.52=198/383","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12307A(99)v16238",87,41,0.47,"12307A","ACSM3","chr16:20792188","IVS5+9T>C","非编码区","rs5715",0.63,0.43,0.46,0.4,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSM3",1,310,"非编码区",16203,"0.48=62/130","位于基因组单拷贝区域+DNA结构正常",6296,"16p13.11","NM_005622.3"]
["12307A(99)v16239",197,82,0.42,"12307A","ACSM3","chr16:20796387","c.1101G>C(E8)","p.367,K>N","rs5716",0.093,0.2,0.21,0.18,0.19,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSM3",1,310,"错义",12220,"0.43=167/388","位于基因组单拷贝区域+DNA结构正常",6296,"16p13.11","NM_005622.3"]
["12307A(99)v6498",79,40,0.51,"12307A","ACSM4","chr12:7463241","c.519A>T(E3)","p.173,P>P","rs7968241",null,0.39,0.38,0.4,0.41,0.38,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACSM4",1,210,"同义",13303,"0.49=65/133","位于基因组多拷贝区域+DNA结构正常",341392,"12p13.31","NM_001080454.1"]
["12307A(99)v13821",59,31,0.53,"12307A","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%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"错义",12210,"0.54=49/91","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12307A(99)v13822",107,36,0.34,"12307A","ACSM5","chr16:20442653","IVS10+10G>A","非编码区","rs34985819",0.1,0.14,0.15,0.14,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"非编码区",16203,"0.36=64/180","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12307A(99)v13823",58,58,1,"12307A","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%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"同义",13203,"1.00=101/101","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12307A(99)v13824",73,35,0.48,"12307A","ACSM5","chr16:20439199","IVS7+10G>A","非编码区","rs11859961",0.11,0.17,0.17,0.17,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"非编码区",16203,"0.46=64/139","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12307A(99)v13825",2,2,1,"12307A","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%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12307A(99)v13826",59,25,0.42,"12307A","ACSM5","chr16:20441077","c.1079A>G(E8)","p.360,H>R","rs12931877",0.091,0.15,0.15,0.16,0.15,0.02,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"错义",12220,"0.42=43/102","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12307A(99)v13827",46,21,0.46,"12307A","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%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"错义",12220,"0.45=30/66","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12307A(99)v6072",7,2,0.29,"12307A","ACSS1","chr20:25038484","c.255G>T(E1)","p.85,T>T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSS1",0.92,77,"同义",13203,"0.30=3/10","位于基因组单拷贝区域+DNA结构正常",84532,"20p11.23-p11.21","NM_001252675.1"]
["12307A(99)v29799",219,1,0,"12307A","ACSS2","chr20:33501934-33501934","c.679(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,1,0,"ACSS2",0.92,150,"缺失移码",2140,"0.01=2/245","位于基因组单拷贝区域+DNA结构正常",55902,"20q11.22","NM_001076552.2"]
["12307A(99)v1972",63,33,0.52,"12307A","ACSS3","chr12:81627238","c.1707C>T(E13)","p.569,G>G","rs1921038",0.18,0.23,0.25,0.21,0.22,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSS3",0.98,260,"同义",13203,"0.52=55/106","位于基因组单拷贝区域+DNA结构正常",79611,"12q21.31","NM_024560.2"]
["12307A(99)v11824",26,26,1,"12307A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性耳聋20型","AD",604717,5,1,1,2,"ACTG1",1,45,"同义",13203,"1.00=47/47","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12307A(99)v11824",26,26,1,"12307A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Baraitser-Winter综合征2",null,614583,5,1,1,2,"ACTG1",1,45,"同义",13203,"1.00=47/47","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12307A(99)v14898",87,86,0.99,"12307A","ACTG2","chr2:74135797","IVS2-3T>C","剪切位点","rs702461",0.58,0.59,0.61,0.57,null,0.49,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,150,"剪切位点",16202,"0.99=142/143","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12307A(99)v14899",101,101,1,"12307A","ACTG2","chr2:74135898","c.225A>G(E3)","p.75,E>E","rs756128",0.57,0.59,0.61,0.57,0.52,0.49,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,150,"同义",13203,"1.00=185/185","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12307A(99)v14900",8,8,1,"12307A","ACTG2","chr2:74128433","m.117C>T(E2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,null,0.56,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,150,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12307A(99)v27963",154,154,1,"12307A","ACTL6A","chr3:179298999","c.1017C>T(E11)","p.339,D>D","rs1132429",null,0.91,0.93,0.89,0.9,0.89,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACTL6A",1,350,"同义",13303,"1.00=287/287","位于基因组单拷贝区域+DNA结构正常",86,"3q26.33","NM_004301.3"]
["12307A(99)v14093",7,7,1,"12307A","ACTL6B","chr7:100240771","m.1486A>T(E14)","非编码区","rs1052897",0.89,0.91,0.9,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL6B",1,53,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",51412,"7q22","NM_016188.4"]
["12307A(99)v26508",10,10,1,"12307A","ACTL7A","chr9:111625913","m.1311A>G(E1)","非编码区","rs4978370",0.88,0.84,0.82,0.86,null,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL7A",1,75,"非编码区",14200,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",10881,"9q31","NM_006687.2"]
["12307A(99)v22145",17,17,1,"12307A","ACTL8","chr1:18152582","c.669C>T(E3)","p.223,D>D","rs478698",0.13,0.19,0.22,0.15,0.18,0.18,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL8",1,29,"同义",13203,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812.2"]
["12307A(99)v22146",25,25,1,"12307A","ACTL8","chr1:18149566","c.63C>A(E2)","p.21,G>G","rs2296035",0.48,0.68,0.7,0.67,0.62,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL8",1,29,"同义",13203,"1.00=48/48","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812.2"]
["12307A(99)v22147",18,18,1,"12307A","ACTL8","chr1:18149510","c.7G>T(E2)","p.3,A>S","rs694214",0.31,0.41,0.47,0.35,0.36,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL8",1,29,"错义",12220,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812.2"]
["12307A(99)v4701",9,3,0.33,"12307A","ACTL9","chr19:8808942","c.110A>G(E1)","p.37,F>S","rs2340550",0.79,0.85,0.86,0.84,0.79,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTL9",0.96,8,"错义",12220,"0.28=5/18","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525.3"]
["12307A(99)v4702",10,3,0.3,"12307A","ACTL9","chr19:8808900","c.152A>G(E1)","p.51,V>A","rs10410943",null,0.85,0.86,0.84,0.8,0.86,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACTL9",0.96,8,"错义",12320,"0.28=5/18","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525.3"]
["12307A(99)v19606",102,101,0.99,"12307A","ACTN1","chr14:69378863","IVS4+10A>G","非编码区","rs2070280",0.32,0.63,0.66,0.61,0.66,0.63,"纯合","无关","有rs号，MAF>=5%",null,"血小板型出血性疾病","AD",615193,5,1,1,1,"ACTN1",1,75,"非编码区",16203,"0.98=160/163","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001102.3"]
["12307A(99)v5847",147,147,1,"12307A","ACTN2","chr1:236883421","c.378C>T(E4)","p.126,N>N","rs1341863",0.92,0.98,0.99,0.97,0.94,0.98,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,150,"同义",13203,"1.00=250/251","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12307A(99)v5848",114,114,1,"12307A","ACTN2","chr1:236882303","c.351T>C(E3)","p.117,I>I","rs1341864",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,150,"同义",13203,"1.00=200/200","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12307A(99)v5849",12,3,0.25,"12307A","ACTN2","chr1:236849979","c.6C>A(E1)","p.2,N>K",{"$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",1,150,"错义",12420,"0.25=5/20","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12307A(99)v5850",29,29,1,"12307A","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",1,150,"剪切位点",16201,"0.98=47/48","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12307A(99)v5851",9,3,0.33,"12307A","ACTN2","chr1:236926030","m.3000A>G(E21)","非编码区","rs1051251",0.35,0.37,0.35,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,2,5,1,"ACTN2",1,150,"非编码区",14200,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12307A(99)v8056",82,81,0.99,"12307A","ACTN4","chr19:39196745","c.546C>T(E5)","p.182,N>N","rs3745859",0.34,0.39,0.41,0.37,0.37,0.44,"纯合","无关","有rs号，MAF>=5%",null,"局灶性节段性肾小球硬化症1型",null,603278,5,1,1,1,"ACTN4",0.94,53,"同义",13203,"0.99=144/145","位于基因组单拷贝区域+DNA结构正常",81,"19q13","NM_004924.4"]
["12307A(99)v19948",8,5,0.62,"12307A","ACTR2","chr2:65496058","m.1605A>G(E10)","非编码区","rs17038564",0.11,0.2,0.2,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACTR2",1,320,"非编码区",14200,"0.67=6/9","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12307A(99)v19949",14,5,0.36,"12307A","ACTR2","chr2:65496018","m.1565C>G(E10)","非编码区","rs11424",0.4,0.74,0.74,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACTR2",1,320,"非编码区",14200,"0.39=7/18","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12307A(99)v19950",1,1,1,"12307A","ACTR2","chr2:65496729","m.2276G>A(E10)","非编码区","rs10116",0.81,0.79,0.79,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACTR2",1,320,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12307A(99)v19951",3,2,0.67,"12307A","ACTR2","chr2:65496187","m.1734G>A(E10)","非编码区","rs12560",0.4,0.74,0.74,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACTR2",1,320,"非编码区",14200,"0.83=5/6","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12307A(99)v19952",5,3,0.6,"12307A","ACTR2","chr2:65496144","m.1691A>G(E10)","非编码区","rs190577",0.81,0.8,0.79,0.81,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACTR2",1,320,"非编码区",14200,"0.55=6/11","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12307A(99)v19953",135,71,0.53,"12307A","ACTR2","chr2:65495887","m.1434G>A(E10)","非编码区","rs268875",0.81,0.73,0.72,0.73,null,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACTR2",1,320,"非编码区",14200,"0.49=110/226","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12307A(99)v19954",134,67,0.5,"12307A","ACTR2","chr2:65481008","IVS6+10A>C","非编码区","rs268871",0.79,0.81,0.8,0.82,null,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACTR2",1,320,"非编码区",16203,"0.48=137/287","位于基因组单拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12307A(99)v12093",173,83,0.48,"12307A","ACTR3C","chr7:149981916","c.490T>C(E6)","p.164,M>V","rs116882544",0.0078,0.019,0.019,0.019,0.026,0.021,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ACTR3C",1,420,"错义",12120,"0.50=163/328","位于基因组多拷贝区域+DNA结构正常",653857,"7q36.1","NM_001164458.1"]
["12307A(99)v16858",7,4,0.57,"12307A","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%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,110,"非编码区",14200,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12307A(99)v16859",125,58,0.46,"12307A","ACTR5","chr20:37396120","c.1447A>G(E8)","p.483,I>V","rs2245231",0.43,0.42,0.41,0.42,0.38,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,110,"错义",12220,"0.46=105/226","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12307A(99)v16860",7,4,0.57,"12307A","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",{"$nulls":4},3,null,3,0,"ACTR5",0.79,110,"非编码区",14100,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12307A(99)v16168",106,39,0.37,"12307A","ACTR8","chr3:53914093","c.167G>A(E2)","p.56,T>I","rs3733082",0.11,0.094,0.1,0.087,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR8",1,220,"错义",12220,"0.41=72/176","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12307A(99)v16169",122,122,1,"12307A","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%",{"$nulls":4},5,null,6,0,"ACTR8",1,220,"同义",13203,"1.00=210/210","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12307A(99)v16170",46,25,0.54,"12307A","ACTR8","chr3:53916130","m.100A>G(E1)","非编码区","rs2276845",0.37,0.5,0.48,0.53,null,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR8",1,220,"非编码区",14200,"0.50=45/90","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12307A(99)v16171",63,25,0.4,"12307A","ACTR8","chr3:53911783","IVS3-5A>G","剪切位点","rs2276842",0.14,0.21,0.21,0.21,null,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR8",1,220,"剪切位点",16202,"0.41=43/105","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12307A(99)v16172",79,79,1,"12307A","ACTR8","chr3:53905308","c.1518T>C(E11)","p.506,G>G","rs1046677",0.69,0.94,0.93,0.96,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR8",1,220,"同义",13203,"1.00=134/134","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12307A(99)v16173",261,3,0.01,"12307A","ACTR8","chr3:53902712-53902712","m.2010(E13):缺失T","非编码区",{"$nulls":5},0,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"ACTR8",1,220,"非编码区",2440,"0.01=3/309","位于基因组单拷贝区域+简单重复结构",93973,"-","NM_022899.4"]
["12307A(99)v26303",40,14,0.35,"12307A","ACTRT2","chr1:2938265","c.15C>T(E1)","p.5,H>H","rs4576609",0.2,0.45,0.43,0.48,0.45,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTRT2",1,39,"同义",13203,"0.39=24/62","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12307A(99)v26304",35,18,0.51,"12307A","ACTRT2","chr1:2938697","c.447T>G(E1)","p.149,S>S","rs3795262",0.21,0.45,0.43,0.48,0.39,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTRT2",1,39,"同义",13203,"0.54=29/54","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12307A(99)v26305",25,11,0.44,"12307A","ACTRT2","chr1:2939409","m.1364G>T(E1)","非编码区","rs12564513",0.078,0.22,0.23,0.21,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTRT2",1,39,"非编码区",14200,"0.45=22/49","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12307A(99)v26306",8,4,0.5,"12307A","ACTRT2","chr1:2938989","c.739G>A(E1)","p.247,G>R","rs3795263",0.12,0.13,0.14,0.12,0.11,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTRT2",1,39,"错义",12210,"0.47=7/15","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12307A(99)v1621",55,22,0.4,"12307A","ACTRT3","chr3:169486144","IVS1-6A>G","剪切位点","rs9822885",0.43,0.7,0.68,0.72,null,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,170,"剪切位点",16202,"0.47=41/88","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487.4"]
["12307A(99)v1622",1,1,1,"12307A","ACTRT3","chr3:169487437","m.247G>A(E1)","非编码区","rs12637184",0.27,0.56,0.53,0.59,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,170,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487.4"]
["12307A(99)v10804",49,49,1,"12307A","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",135100,5,1,2,1,"ACVR1",1,240,"同义",13203,"1.00=67/67","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105.4"]
["12307A(99)v10805",154,153,0.99,"12307A","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",135100,5,1,2,1,"ACVR1",1,240,"同义",13203,"1.00=275/276","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105.4"]
["12307A(99)v21415",122,122,1,"12307A","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,{"$nulls":3},5,null,2,0,"ACVR1C",0.95,250,"同义",13203,"1.00=230/231","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_001111032.1"]
["12307A(99)v21416",213,213,1,"12307A","ACVR1C","chr2:158395079","IVS8+6C>G","剪切位点","rs7576514",0.84,0.92,0.95,0.9,null,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACVR1C",0.95,250,"剪切位点",16202,"1.00=375/376","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_001111031.1"]
["12307A(99)v9019",170,76,0.45,"12307A","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,{"$nulls":3},5,null,1,0,"ACVR2A",1,280,"同义",13203,"0.45=139/307","位于基因组单拷贝区域+DNA结构正常",92,"2q22.3","NM_001616.3"]
["12307A(99)v23001",52,26,0.5,"12307A","ACVR2B","chr3:38519424","c.333A>G(E3)","p.111,E>E","rs2070489",0.48,0.45,0.46,0.44,0.42,0.47,"杂合","无关","有rs号，MAF>=5%",null,"常染色体遗传的内脏异位4型",null,613751,5,2,3,1,"ACVR2B",0.97,83,"同义",13203,"0.53=47/89","位于基因组单拷贝区域+DNA结构正常",93,"3p22","NM_001106.3"]
["12307A(99)v23002",2,1,0.5,"12307A","ACVR2B","chr3:38525567","m.2307T>C(E11)","非编码区","rs7642472",0.35,0.26,0.28,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",null,"常染色体遗传的内脏异位4型",null,613751,5,2,3,1,"ACVR2B",0.97,83,"非编码区",14200,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",93,"3p22","NM_001106.3"]
["12307A(99)v23003",52,28,0.54,"12307A","ACVR2B","chr3:38524742","c.1458C>T(E11)","p.486,N>N","rs1046048",0.35,0.26,0.28,0.24,0.24,0.28,"杂合","无关","有rs号，MAF>=5%",null,"常染色体遗传的内脏异位4型",null,613751,5,2,3,1,"ACVR2B",0.97,83,"同义",13203,"0.51=46/90","位于基因组单拷贝区域+DNA结构正常",93,"3p22","NM_001106.3"]
["12307A(99)v19942",3,3,1,"12307A","ACY3","chr11:67414492","c.23C>T(E3)","p.8,R>Q","rs948445",0.72,0.78,0.79,0.78,0.54,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACY3",1,43,"错义",12220,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",91703,"11q13.2","NM_080658.1"]
["12307A(99)v13923",82,50,0.61,"12307A","ACYP1","chr14:75520065","m.470T>C(E3)","非编码区","rs7303",0.5,0.83,0.82,0.83,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACYP1",1,220,"非编码区",14200,"0.64=82/128","位于基因组单拷贝区域+DNA结构正常",97,"14q24.3","NM_001107.3"]
["12307A(99)v13734",84,84,1,"12307A","ADA","chr20:43264927","c.36C>T(E2)","p.12,V>V","rs394105",0.98,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"由于腺苷脱氨酶缺陷症导致的常染色体隐性遗传重症联合免疫缺陷（T细胞B细胞NK细胞抑制型）","AR",102700,5,1,1,1,"ADA",0.97,110,"剪切位点",13202,"1.00=153/153","位于基因组单拷贝区域+DNA结构正常",100,"20q13.12","NM_000022.2"]
["12307A(99)v7241",6,3,0.5,"12307A","ADAD2","chr16:84229580","c.1212C>T(E7)","p.404,A>A","rs2303239",0.29,0.3,0.25,0.34,0.23,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.82,15,"同义",13203,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12307A(99)v7242",5,5,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ADAD2",0.82,15,"同义",13203,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12307A(99)v7243",2,2,1,"12307A","ADAD2","chr16:84229436","c.1068G>A(E7)","p.356,S>S","rs62049905",0.31,0.27,0.22,0.33,0.24,0.26,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.82,15,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12307A(99)v7244",57,28,0.49,"12307A","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",{"$nulls":4},3,null,5,0,"ADAD2",0.82,15,"错义",12120,"0.41=43/104","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174.3"]
["12307A(99)v7245",7,5,0.71,"12307A","ADAD2","chr16:84230376","IVS9+3T>C","剪切位点","rs2303242",0.58,0.46,0.49,0.43,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.82,15,"剪切位点",16201,"0.78=7/9","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12307A(99)v29007",116,115,0.99,"12307A","ADAL","chr15:43632549","c.342T>C(E6)","p.114,T>T","rs2278857",0.54,0.5,0.48,0.53,0.44,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAL",1,270,"剪切位点",13202,"0.99=202/204","位于基因组单拷贝区域+DNA结构正常",161823,"15q15.3","NM_001012969.2"]
["12307A(99)v11776",2,2,1,"12307A","ADAM11","chr17:42851729","c.1059C>T(E12)","p.353,H>H","rs35936481",0.65,0.78,0.77,0.79,0.64,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12307A(99)v11777",23,23,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12307A(99)v11778",15,15,1,"12307A","ADAM11","chr17:42852610","c.1251T>C(E15)","p.417,C>C","rs1558084",0.9,0.87,0.87,0.87,0.83,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12307A(99)v11779",16,16,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12307A(99)v11780",13,12,0.92,"12307A","ADAM11","chr17:42852604","c.1245G>T(E15)","p.415,S>S","rs1558083",0.65,0.77,0.76,0.79,0.77,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"0.93=27/29","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12307A(99)v23972",113,61,0.54,"12307A","ADAM12","chr10:127705801","m.3190G>A(E23)","非编码区","rs61863598",0.0002,0.0024,0,0.0049,null,1.8E-3,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ADAM12",0.97,160,"非编码区",14100,"0.52=102/196","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12307A(99)v23973",180,94,0.52,"12307A","ADAM12","chr10:128019025","c.142C>G(E2)","p.48,G>R","rs3740199",null,0.47,0.44,0.5,0.5,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害","16385451;19268722;23491141",{"$nulls":3},3,null,5,0,"ADAM12",0.97,160,"错义",12320,"0.52=163/311","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12307A(99)v23974",45,17,0.38,"12307A","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%",{"$nulls":4},5,null,5,0,"ADAM12",0.97,160,"同义",13203,"0.33=25/76","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12307A(99)v23975",24,10,0.42,"12307A","ADAM12","chr10:127730728","c.2190C>T(E19)","p.730,A>A","rs34265990",0.18,0.31,0.27,0.34,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM12",0.97,160,"同义",13203,"0.37=16/43","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_021641.3"]
["12307A(99)v23976",94,41,0.44,"12307A","ADAM12","chr10:127727913","c.2199G>A(E19)","p.733,T>T","rs56651369",0.014,0.077,0.062,0.092,0.11,0.09,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ADAM12",0.97,160,"同义",13103,"0.42=69/163","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12307A(99)v31549",23,23,1,"12307A","ADAM15","chr1:155026942","c.602A>C(E6)","p.201,K>T","rs6427128",0.9,1,1,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM15",1,49,"错义",12220,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_001261464.1"]
["12307A(99)v31550",8,1,0.12,"12307A","ADAM15","chr1:155033298","c.2297G>C(E19)","p.766,R>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,"ADAM15",1,49,"错义",12420,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_001261464.1"]
["12307A(99)v24458",101,53,0.52,"12307A","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",1,120,"同义",13403,"0.53=98/185","位于基因组单拷贝区域+DNA结构正常",8728,"5q33.3","NM_033274.3"]
["12307A(99)v15367",101,58,0.57,"12307A","ADAM20","chr14:70990398","c.1227G>A(E2)","p.409,C>C","rs10162314",0.058,0.026,0.029,0.024,0.032,0.023,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM20",1,160,"同义",13203,"0.61=97/159","位于基因组单拷贝区域+DNA结构正常",8748,"14q24.1","NM_003814.4"]
["12307A(99)v15368",80,38,0.47,"12307A","ADAM20","chr14:70989762","c.1863T>C(E2)","p.621,V>V","rs9323540",0.058,0.026,0.029,0.024,0.03,0.023,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM20",1,160,"同义",13203,"0.45=65/144","位于基因组单拷贝区域+DNA结构正常",8748,"14q24.1","NM_003814.4"]
["12307A(99)v5827",89,89,1,"12307A","ADAM21","chr14:70924462","c.246A>G(E2)","p.82,L>L","rs3751523",{"$nulls":4},0.51,0.54,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,110,"同义",13303,"1.00=149/149","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v5828",54,53,0.98,"12307A","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,9,0,"ADAM21",1,110,"同义",13303,"0.95=69/73","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v5829",94,18,0.19,"12307A","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,9,0,"ADAM21",1,110,"同义",13303,"0.23=37/160","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v5830",69,30,0.43,"12307A","ADAM21","chr14:70924507","c.291A>C(E2)","p.97,A>A","rs3751524",{"$nulls":4},0.08,0.067,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,110,"同义",13303,"0.43=49/113","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v5831",64,19,0.3,"12307A","ADAM21","chr14:70924249","c.33A>G(E2)","p.11,R>R","rs3751521",0.65,0.89,0.9,0.88,0.86,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,110,"同义",13203,"0.31=32/103","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v5832",58,16,0.28,"12307A","ADAM21","chr14:70924237","c.21C>A(E2)","p.7,L>L","rs3751520",0.37,0.35,0.36,0.34,0.28,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,110,"同义",13203,"0.29=27/92","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v5833",51,13,0.25,"12307A","ADAM21","chr14:70925818","c.1602T>C(E2)","p.534,N>N","rs2022624",0.74,0.9,0.9,0.89,0.8,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,110,"同义",13203,"0.19=17/89","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v5834",70,57,0.81,"12307A","ADAM21","chr14:70924501","c.285C>G(E2)","p.95,D>E","rs8010994",{"$nulls":4},0.8,0.61,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,9,0,"ADAM21",1,110,"错义",12320,"0.78=91/116","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v5835",71,34,0.48,"12307A","ADAM21","chr14:70924852","c.636A>C(E2)","p.212,L>L","rs3829455",0.44,0.36,0.36,0.35,0.33,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,110,"同义",13203,"0.43=47/109","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12307A(99)v23505",6,4,0.67,"12307A","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%",{"$nulls":4},5,null,1,0,"ADAM22",0.99,280,"错义",12220,"0.71=5/7","位于基因组单拷贝区域+DNA结构正常",53616,"7q21","NM_004194.3"]
["12307A(99)v695",89,45,0.51,"12307A","ADAM23","chr2:207459467","c.2085C>T(E23)","p.695,A>A","rs3732079",0.18,0.17,0.15,0.19,0.2,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM23",0.91,250,"同义",13203,"0.47=77/163","位于基因组单拷贝区域+DNA结构正常",8745,"2q33","NM_003812.2"]
["12307A(99)v26190",29,29,1,"12307A","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%",{"$nulls":4},5,null,4,0,"ADAM28",1,260,"非编码区",14200,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_021777.3"]
["12307A(99)v26191",175,175,1,"12307A","ADAM28","chr8:24211331","c.2293G>A(E22)","p.765,V>M","rs7814768",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM28",1,260,"错义",12220,"1.00=321/321","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12307A(99)v26192",171,171,1,"12307A","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%",{"$nulls":4},5,null,4,0,"ADAM28",1,260,"剪切位点",16202,"1.00=319/320","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12307A(99)v26193",104,69,0.66,"12307A","ADAM28","chr8:24211994-24211997","m.2488(E23)至m.2491(E23):缺失CTAT","非编码区","rs10610134",0.97,1,1,1,0.14,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"ADAM28",1,260,"非编码区",2420,"0.59=76/129","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12307A(99)v2225",81,40,0.49,"12307A","ADAM29","chr4:175898555","c.1879C>T(E4)","p.627,P>S","rs78280171",0.049,0.23,0.25,0.22,0.23,0.24,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ADAM29",1,150,"错义",12110,"0.50=61/122","位于基因组多拷贝区域+DNA结构正常",11086,"4q34","NM_001130703.1"]
["12307A(99)v19988",72,35,0.49,"12307A","ADAM30","chr1:120437718","c.1242G>A(E1)","p.414,D>D","rs2793823",0.33,0.094,0.11,0.073,0.087,null,"杂合","无关","有rs号，MAF>=5%",20018066,{"$nulls":3},5,null,1,0,"ADAM30",1,150,"同义",13203,"0.45=49/108","位于基因组单拷贝区域+DNA结构正常",11085,"1p12","NM_021794.3"]
["12307A(99)v16546",125,125,1,"12307A","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%",{"$nulls":4},5,null,4,0,"ADAM32",1,310,"错义",12230,"1.00=229/229","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004.5"]
["12307A(99)v16547",1,1,1,"12307A","ADAM32","chr8:38965271","m.222C>T(E1)","非编码区","rs59118660",0.44,0.69,0.71,0.66,null,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM32",1,310,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004.5"]
["12307A(99)v16548",176,87,0.49,"12307A","ADAM32","chr8:39128387","IVS19-8C>T","剪切位点","rs4733994",0.22,0.29,0.27,0.31,0.25,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM32",1,310,"剪切位点",16202,"0.50=158/318","位于基因组多拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004.5"]
["12307A(99)v16549",173,80,0.46,"12307A","ADAM32","chr8:39091526","c.1743T>C(E16)","p.581,T>T","rs4515515",0.22,0.3,0.29,0.31,0.26,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM32",1,310,"同义",13203,"0.45=144/319","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004.5"]
["12307A(99)v6267",16,10,0.62,"12307A","ADAM33","chr20:3652298","c.1835A>T(E16)","p.612,L>H","rs41453444",0.0058,0.029,0.033,0.024,0.008,0.042,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ADAM33",0.81,22,"错义",12110,"0.67=16/24","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220.2"]
["12307A(99)v6268",12,6,0.5,"12307A","ADAM33","chr20:3650234","c.2291A>G(E20)","p.764,M>T","rs2280091",0.13,0.099,0.11,0.087,0.06,0.12,"杂合","无关","有rs号，MAF>=5%","16024651;16784537;17878941;18778489;19146844;19284602;22583515;22851202;22871616;23380143;24751681;24944803",{"$nulls":3},5,null,3,0,"ADAM33",0.81,22,"错义",12210,"0.50=8/16","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220.2"]
["12307A(99)v6269",12,5,0.42,"12307A","ADAM33","chr20:3650205","c.2320G>A(E20)","p.774,P>S","rs2280090",0.14,0.11,0.11,0.11,0.075,0.14,"杂合","无关","有rs号，MAF>=5%","16519819;16784537;17878941;18778489;19146844;19236319;22583515;22851202;22871616;23380143;24141861;24751681;24944803",{"$nulls":3},5,null,3,0,"ADAM33",0.81,22,"错义",12210,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220.2"]
["12307A(99)v3091",14,14,1,"12307A","ADAM8","chr10:135076523","m.2698C>A(E23)","非编码区","rs2995300",0.83,0.94,0.93,0.94,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"非编码区",14200,"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"]
["12307A(99)v3092",5,5,1,"12307A","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%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"错义",12220,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12307A(99)v3093",5,5,1,"12307A","ADAM8","chr10:135085321","c.1095C>T(E11)","p.365,A>A","rs1131720",0.85,0.94,0.93,0.94,0.73,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12307A(99)v3094",10,10,1,"12307A","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%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"错义",12220,"0.94=17/18","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001164490.1"]
["12307A(99)v3095",11,11,1,"12307A","ADAM8","chr10:135086380","IVS7-10C>T","剪切位点","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"剪切位点",16202,"1.00=20/20","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12307A(99)v3096",23,23,1,"12307A","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%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"非编码区",14200,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12307A(99)v3097",15,15,1,"12307A","ADAM8","chr10:135082346","c.1969A>G(E19)","p.657,F>L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,10,0,"ADAM8",0.93,16,"错义",12220,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12307A(99)v3098",5,5,1,"12307A","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%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"同义",13203,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12307A(99)v3099",3,3,1,"12307A","ADAM8","chr10:135085426","c.990A>G(E11)","p.330,C>C","rs1131719",0.92,0.95,0.96,0.95,0.81,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12307A(99)v3100",6,5,0.83,"12307A","ADAM8","chr10:135084232-135084233","IVS15+8至IVS15+7:插入AGA","非编码区","rs5789159",null,0.95,0.95,0.95,0.05,0.95,"杂合","无关","内含子突变",{"$nulls":4},5,null,10,0,"ADAM8",0.93,16,"非编码区",2500,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12307A(99)v14215",46,22,0.48,"12307A","ADAMTS1","chr21:28212760","c.1500G>A(E5)","p.500,P>P","rs436525",0.57,0.4,0.39,0.41,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS1",0.88,140,"同义",13203,"0.49=35/71","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988.3"]
["12307A(99)v14216",1,1,1,"12307A","ADAMTS1","chr21:28208904","m.4353C>A(E9)","非编码区","rs2738",0.081,0.13,0.09,0.17,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS1",0.88,140,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988.3"]
["12307A(99)v15316",14,14,1,"12307A","ADAMTS10","chr19:8645786","c.3303A>C(E26)","p.1101,H>Q","rs7252299",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,3,1,"ADAMTS10",0.8,33,"错义",12230,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957.2"]
["12307A(99)v15317",4,4,1,"12307A","ADAMTS10","chr19:8669931","c.401G>C(E4)","p.134,T>S","rs7255721",0.89,0.96,0.98,0.94,0.81,0.97,"纯合","无关","有rs号，MAF>=5%",19836009,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,3,1,"ADAMTS10",0.8,33,"错义",12220,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957.2"]
["12307A(99)v15318",45,16,0.36,"12307A","ADAMTS10","chr19:8651562","c.2283A>G(E20)","p.761,P>P","rs4476282",0.18,0.089,0.09,0.087,0.095,0.11,"杂合","无关","有rs号，MAF>=5%",19836009,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,3,3,1,"ADAMTS10",0.8,33,"同义",13203,"0.38=24/64","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957.2"]
["12307A(99)v17935",81,39,0.48,"12307A","ADAMTS12","chr5:33624430","c.2049A>G(E14)","p.683,D>D","rs61748198",0.16,0.24,0.22,0.25,0.24,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS12",1,140,"同义",13203,"0.49=65/134","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955.2"]
["12307A(99)v17936",57,57,1,"12307A","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",{"$nulls":3},5,null,3,0,"ADAMTS12",1,140,"错义",12210,"0.99=92/93","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955.2"]
["12307A(99)v17937",50,50,1,"12307A","ADAMTS12","chr5:33649807","IVS7-5C>A","剪切位点","rs4504387",0.54,0.73,0.72,0.73,null,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS12",1,140,"剪切位点",16202,"0.98=80/82","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955.2"]
["12307A(99)v7022",1,1,1,"12307A","ADAMTS13","chr9:136281966","otherA>G","非编码区","rs3124779",0.57,0.75,0.73,0.78,null,null,"纯合","无关","突变在基因上，但不属于任何转录变体",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",0.91,27,"非编码区",17000,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12307A(99)v7023",74,74,1,"12307A","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",0.91,27,"同义",13203,"1.00=143/143","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12307A(99)v7024",21,21,1,"12307A","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",0.91,27,"同义",13203,"0.97=36/37","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12307A(99)v7025",1,1,1,"12307A","ADAMTS13","chr9:136281925","otherA>G","非编码区","rs3124780",0.61,0.76,0.73,0.78,null,null,"纯合","无关","突变在基因上，但不属于任何转录变体",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",0.91,27,"非编码区",17000,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12307A(99)v21271",32,15,0.47,"12307A","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%",{"$nulls":4},5,null,6,0,"ADAMTS14",0.98,36,"错义",12220,"0.46=25/54","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12307A(99)v21272",3,3,1,"12307A","ADAMTS14","chr10:72513682","c.2856C>T(E19)","p.952,C>C","rs2587475",0.53,0.5,0.52,0.48,0.36,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS14",0.98,36,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12307A(99)v21273",21,10,0.48,"12307A","ADAMTS14","chr10:72517837","c.3057C>T(E20)","p.1019,P>P","rs6480463",0.52,0.41,0.44,0.37,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS14",0.98,36,"同义",13203,"0.44=11/25","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12307A(99)v21274",21,21,1,"12307A","ADAMTS14","chr10:72500763","c.1769T>C(E12)","p.590,L>P","rs10823607",0.8,0.91,0.9,0.93,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",23728906,{"$nulls":3},5,null,6,0,"ADAMTS14",0.98,36,"错义",12220,"0.97=33/34","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12307A(99)v21275",3,2,0.67,"12307A","ADAMTS14","chr10:72513635","c.2809C>A(E19)","p.937,L>M","rs12774070",0.16,0.19,0.19,0.2,0.13,0.22,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,6,0,"ADAMTS14",0.98,36,"错义",12220,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12307A(99)v21276",19,19,1,"12307A","ADAMTS14","chr10:72500863","c.1869C>G(E12)","p.623,S>S","rs10999500",0.67,0.85,0.83,0.86,0.81,0.87,"纯合","无关","有rs号，MAF>=5%",21283782,{"$nulls":3},5,null,6,0,"ADAMTS14",0.98,36,"同义",13203,"1.00=30/30","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12307A(99)v10507",7,1,0.14,"12307A","ADAMTS15","chr11:130318919","c.51A>T(E1)","p.17,G>G",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ADAMTS15",0.97,27,"同义",13403,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12307A(99)v10508",18,10,0.56,"12307A","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%",{"$nulls":4},5,null,4,0,"ADAMTS15",0.97,27,"错义",12210,"0.50=12/24","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12307A(99)v10509",15,15,1,"12307A","ADAMTS15","chr11:130339312","c.1698T>C(E5)","p.566,N>N","rs731446",0.57,0.35,0.34,0.36,0.32,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAMTS15",0.97,27,"同义",13203,"0.96=24/25","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12307A(99)v10510",7,1,0.14,"12307A","ADAMTS15","chr11:130332627","c.1494C>T(E4)","p.498,L>L",{"$nulls":5},0.0011,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ADAMTS15",0.97,27,"同义",13403,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12307A(99)v24471",36,15,0.42,"12307A","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%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"同义",13203,"0.44=27/61","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12307A(99)v24472",40,17,0.42,"12307A","ADAMTS16","chr5:5242218","c.2576G>T(E17)","p.859,R>L","rs16875122",0.073,0.19,0.18,0.21,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"错义",12210,"0.44=28/64","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12307A(99)v24473",50,28,0.56,"12307A","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%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"错义",12220,"0.54=44/81","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12307A(99)v24474",103,102,0.99,"12307A","ADAMTS16","chr5:5200281","c.1350C>T(E9)","p.450,C>C","rs6555335",0.73,0.83,0.82,0.84,0.83,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"同义",13203,"0.99=196/198","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12307A(99)v24475",70,30,0.43,"12307A","ADAMTS16","chr5:5240002","c.2487C>A(E16)","p.829,I>I","rs11742370",0.11,0.099,0.081,0.12,0.096,0.088,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"同义",13203,"0.45=54/121","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12307A(99)v24476",140,59,0.42,"12307A","ADAMTS16","chr5:5239921","c.2406C>T(E16)","p.802,T>T","rs11742341",0.11,0.099,0.081,0.12,0.099,0.089,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"同义",13203,"0.48=116/244","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12307A(99)v24477",47,21,0.45,"12307A","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%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"错义",12220,"0.47=36/76","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12307A(99)v17817",13,13,1,"12307A","ADAMTS17","chr15:100514561","m.3413G>C(E22)","非编码区","rs2581340",{"$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",613195,3,1,13,1,"ADAMTS17",0.9,75,"非编码区",14300,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17818",3,3,1,"12307A","ADAMTS17","chr15:100514418","m.3556C>G(E22)","非编码区","rs2581343",0.52,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17819",3,3,1,"12307A","ADAMTS17","chr15:100821576","c.647G>A(E4)","p.216,S>L","rs7496668",0.48,0.49,0.5,0.49,0.4,0.54,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"错义",12210,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17820",9,9,1,"12307A","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",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",14200,"0.95=20/21","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17821",261,261,1,"12307A","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",613195,5,1,13,1,"ADAMTS17",0.9,75,"同义",13203,"1.00=506/508","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17822",20,20,1,"12307A","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",613195,5,1,13,1,"ADAMTS17",0.9,75,"错义",12220,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17823",24,10,0.42,"12307A","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",613195,5,3,13,1,"ADAMTS17",0.9,75,"错义",12220,"0.38=12/32","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17824",9,8,0.89,"12307A","ADAMTS17","chr15:100821426","IVS4+8G>A","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.28,0.3,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",16203,"0.87=13/15","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17825",102,49,0.48,"12307A","ADAMTS17","chr15:100801698","c.1017G>A(E6)","p.339,A>A","rs4965613",0.69,0.61,0.59,0.62,0.64,0.63,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,13,1,"ADAMTS17",0.9,75,"同义",13203,"0.47=82/175","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17826",9,8,0.89,"12307A","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",613195,4,3,13,1,"ADAMTS17",0.9,75,"同义",13303,"0.79=11/14","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17827",3,3,1,"12307A","ADAMTS17","chr15:100514417","m.3557C>T(E22)","非编码区","rs2727199",0.52,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17828",29,29,1,"12307A","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",613195,5,1,13,1,"ADAMTS17",0.9,75,"同义",13203,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v17829",8,8,1,"12307A","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",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",14200,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12307A(99)v27701",36,22,0.61,"12307A","ADAMTS18","chr16:77317756","m.4182G>A(E23)","非编码区","rs889707",0.17,0.18,0.22,0.14,null,null,"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",615458,5,3,10,1,"ADAMTS18",0.99,170,"非编码区",14200,"0.59=27/46","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27702",81,38,0.47,"12307A","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",615458,5,3,10,1,"ADAMTS18",0.99,170,"错义",12220,"0.46=62/134","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27703",6,3,0.5,"12307A","ADAMTS18","chr16:77317591","m.4347T>C(E23)","非编码区","rs889706",0.18,0.19,0.23,0.14,null,null,"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",615458,5,3,10,1,"ADAMTS18",0.99,170,"非编码区",14200,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27704",98,56,0.57,"12307A","ADAMTS18","chr16:77393207","IVS8+8G>C","非编码区","rs2650907",0.46,0.34,0.31,0.36,null,0.36,"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",615458,5,3,10,1,"ADAMTS18",0.99,170,"非编码区",16203,"0.57=89/155","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27705",150,150,1,"12307A","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",615458,5,1,10,1,"ADAMTS18",0.99,170,"错义",12220,"1.00=268/268","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27706",1,1,1,"12307A","ADAMTS18","chr16:77316787","m.5151A>C(E23)","非编码区","rs747734",0.91,0.99,0.99,0.99,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",615458,5,1,10,1,"ADAMTS18",0.99,170,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27707",90,44,0.49,"12307A","ADAMTS18","chr16:77323235","c.3476C>G(E22)","p.1159,S>T","rs3743749",0.18,0.2,0.24,0.16,0.19,0.22,"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",615458,5,3,10,1,"ADAMTS18",0.99,170,"错义",12220,"0.48=78/161","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27708",147,147,1,"12307A","ADAMTS18","chr16:77389956","c.1341A>G(E9)","p.447,D>D","rs8059275",0.88,0.88,0.87,0.9,0.91,0.91,"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",615458,5,1,10,1,"ADAMTS18",0.99,170,"同义",13203,"1.00=245/245","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27709",49,49,1,"12307A","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",615458,5,1,10,1,"ADAMTS18",0.99,170,"错义",12220,"1.00=83/83","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v27710",49,25,0.51,"12307A","ADAMTS18","chr16:77325325","c.3240G>T(E21)","p.1080,S>R","rs35478105",0.23,0.13,0.081,0.18,0.14,0.12,"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",615458,5,3,10,1,"ADAMTS18",0.99,170,"错义",12220,"0.48=37/77","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12307A(99)v21088",209,208,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ADAMTS19",0.87,220,"错义",12220,"0.99=397/399","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638.3"]
["12307A(99)v21089",50,50,1,"12307A","ADAMTS19","chr5:129072943","m.3656G>T(E23)","非编码区","rs1465686",0.95,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS19",0.87,220,"非编码区",14200,"1.00=88/88","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638.3"]
["12307A(99)v24703",7,1,0.14,"12307A","ADAMTS2","chr5:178553111","c.2638C>T(E18)","p.880,G>S",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,2,3,7,1,"ADAMTS2",0.91,39,"错义",12410,"0.27=4/15","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12307A(99)v24704",71,34,0.48,"12307A","ADAMTS2","chr5:178540975","c.3529G>A(E22)","p.1177,P>S","rs1054480",0.26,0.27,0.26,0.28,0.27,0.32,"杂合","无关","有rs号，MAF>=5%",23491141,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.91,39,"错义",12220,"0.46=55/120","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12307A(99)v24705",2,1,0.5,"12307A","ADAMTS2","chr5:178770759","IVS2+9C>G","非编码区","rs2271213",0.4,0.52,0.49,0.55,0.48,0.49,"杂合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.91,39,"非编码区",16203,"0.80=4/5","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12307A(99)v24706",10,4,0.4,"12307A","ADAMTS2","chr5:178581859","c.1194G>A(E7)","p.398,D>D","rs2278221",0.23,0.28,0.29,0.27,0.25,0.34,"杂合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.91,39,"同义",13203,"0.35=6/17","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12307A(99)v24707",3,1,0.33,"12307A","ADAMTS2","chr5:178770981","c.321A>G(E2)","p.107,S>S","rs2271212",{"$nulls":4},0.37,0.49,"杂合","未知","预测范围之外的同义突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,4,3,7,1,"ADAMTS2",0.91,39,"同义",13303,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12307A(99)v24708",16,16,1,"12307A","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",225410,5,1,7,1,"ADAMTS2",0.91,39,"同义",13203,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12307A(99)v24709",10,10,1,"12307A","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",225410,5,1,7,1,"ADAMTS2",0.91,39,"错义",12220,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12307A(99)v5453",283,146,0.52,"12307A","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%",{"$nulls":4},5,null,2,0,"ADAMTS20",1,280,"同义",13203,"0.51=277/546","位于基因组单拷贝区域+DNA结构正常",80070,"12q12","NM_025003.3"]
["12307A(99)v5454",136,70,0.51,"12307A","ADAMTS20","chr12:43777630","c.4603C>A(E30)","p.1535,G>W","rs117455456",0.004,0.019,0.019,0.019,0.011,0.023,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ADAMTS20",1,280,"错义",12120,"0.49=113/232","位于基因组单拷贝区域+DNA结构正常",80070,"12q12","NM_025003.3"]
["12307A(99)v21244",18,18,1,"12307A","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,{"$nulls":3},5,null,2,0,"ADAMTS4",0.9,42,"错义",12220,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099.4"]
["12307A(99)v21245",12,11,0.92,"12307A","ADAMTS4","chr1:161168004","c.414C>T(E1)","p.138,S>S","rs33941127",0.37,0.47,0.46,0.47,0.49,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS4",0.9,42,"同义",13203,"0.95=20/21","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099.4"]
["12307A(99)v7737",1,1,1,"12307A","ADAMTS5","chr21:28290937","m.8957G>C(E8)","非编码区","rs229070",0.96,0.83,0.86,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS5",0.94,120,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",11096,"21q21.3","NM_007038.3"]
["12307A(99)v7738",31,17,0.55,"12307A","ADAMTS5","chr21:28296324","m.3570A>G(E8)","非编码区","rs151065",0.78,0.48,0.49,0.47,null,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS5",0.94,120,"非编码区",14200,"0.60=25/42","位于基因组单拷贝区域+DNA结构正常",11096,"21q21.3","NM_007038.3"]
["12307A(99)v7739",104,47,0.45,"12307A","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",{"$nulls":3},5,null,3,0,"ADAMTS5",0.94,120,"错义",12220,"0.44=75/170","位于基因组单拷贝区域+DNA结构正常",11096,"21q21.3","NM_007038.3"]
["12307A(99)v17886",7,2,0.29,"12307A","ADAMTS6","chr5:64769695","m.620C>A(E2)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ADAMTS6",1,270,"非编码区",14400,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",11174,"5q12","NM_197941.2"]
["12307A(99)v17887",106,52,0.49,"12307A","ADAMTS6","chr5:64447777","IVS24-5C>T","剪切位点","rs17206779",0.38,0.4,0.4,0.39,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS6",1,270,"剪切位点",16202,"0.45=85/191","位于基因组单拷贝区域+DNA结构正常",11174,"5q12","NM_197941.2"]
["12307A(99)v3885",3,2,0.67,"12307A","ADAMTS7","chr15:79058013","c.4240C>T(E19)","p.1414,G>S","rs2929155",0.67,0.58,0.6,0.57,0.39,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.94,20,"错义",12220,"0.60=3/5","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12307A(99)v3886",26,26,1,"12307A","ADAMTS7","chr15:79083120","c.920G>A(E6)","p.307,T>M","rs2127898",{"$nulls":4},0.35,0.32,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"ADAMTS7",0.94,20,"错义",12310,"1.00=37/37","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12307A(99)v3887",2,2,1,"12307A","ADAMTS7","chr15:79054900","c.4748C>G(E23)","p.1583,G>A","rs7495616",0.67,0.59,0.6,0.57,0.49,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.94,20,"错义",12220,"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"]
["12307A(99)v3888",11,11,1,"12307A","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",{"$nulls":4},4,null,6,0,"ADAMTS7",0.94,20,"同义",13303,"1.00=22/22","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12307A(99)v3889",3,3,1,"12307A","ADAMTS7","chr15:79058923","c.3330G>A(E19)","p.1110,P>P","rs1809422",0.95,0.92,0.91,0.93,0.77,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.94,20,"同义",13203,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12307A(99)v3890",18,18,1,"12307A","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%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.94,20,"同义",13203,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12307A(99)v18510",61,60,0.98,"12307A","ADAMTS8","chr11:130281488","c.1574G>A(E6)","p.525,A>V","rs2131535",0.74,0.83,0.83,0.83,0.77,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS8",0.89,33,"错义",12220,"0.99=95/96","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037.4"]
["12307A(99)v28311",46,20,0.43,"12307A","ADAMTS9","chr3:64536648","c.4789C>T(E31)","p.1597,V>M","rs80311637",0.0084,0.043,0.052,0.034,0.024,0.043,"杂合","未知","蛋白结构预测结果为容忍或无害",24124411,{"$nulls":3},3,null,2,0,"ADAMTS9",1,200,"错义",12120,"0.48=37/77","位于基因组单拷贝区域+DNA结构正常",56999,"3p14.1","NM_182920.1"]
["12307A(99)v28312",92,92,1,"12307A","ADAMTS9","chr3:64532476","c.5022G>C(E32)","p.1674,D>E","rs6787633",0.13,0.23,0.23,0.22,0.22,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS9",1,200,"错义",12220,"0.99=149/150","位于基因组单拷贝区域+DNA结构正常",56999,"3p14.1","NM_182920.1"]
["12307A(99)v19757",6,3,0.5,"12307A","ADAMTSL1","chr9:18777395","c.3168G>A(E19)","p.1056,E>E",{"$nulls":6},0.00061,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAMTSL1",1,100,"同义",13403,"0.69=9/13","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12307A(99)v19758",119,59,0.5,"12307A","ADAMTSL1","chr9:18681821","c.1353A>G(E12)","p.451,T>T","rs13293151",0.28,0.27,0.31,0.22,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTSL1",1,100,"同义",13203,"0.50=106/210","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12307A(99)v19759",105,48,0.46,"12307A","ADAMTSL1","chr9:18684837-18684838","m.1765(E13)至m.1766(E13):缺失TG","非编码区","rs140349388",0.15,0.14,0.13,0.15,0.016,0.18,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"ADAMTSL1",1,100,"非编码区",2420,"0.46=52/112","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_052866.4"]
["12307A(99)v5488",62,40,0.65,"12307A","ADAMTSL2","chr9:136412236","c.840A>T(E9)","p.280,A>A","rs2073875",0.72,0.53,0.57,0.5,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,37,"同义",13203,"0.59=59/100","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12307A(99)v5489",56,33,0.59,"12307A","ADAMTSL2","chr9:136412170","c.774C>T(E9)","p.258,D>D","rs2073874",0.72,0.53,0.57,0.5,0.42,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,37,"同义",13203,"0.59=60/101","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12307A(99)v5490",34,24,0.71,"12307A","ADAMTSL2","chr9:136412296","c.900C>T(E9)","p.300,I>I","rs2073877",0.096,0.14,0.16,0.13,0.12,0.14,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,37,"同义",13203,"0.69=36/52","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12307A(99)v5491",4,3,0.75,"12307A","ADAMTSL2","chr9:136419629","c.1090G>A(E10)","p.364,V>I","rs35767802",{"$nulls":4},0.32,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Geleophysic发育不良1型","AR",231050,3,3,5,1,"ADAMTSL2",0.98,37,"错义",12320,"0.56=5/9","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12307A(99)v5492",56,35,0.62,"12307A","ADAMTSL2","chr9:136412255","c.859A>C(E9)","p.287,R>R","rs2073876",0.72,0.53,0.57,0.5,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,37,"同义",13203,"0.59=55/94","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12307A(99)v23648",283,283,1,"12307A","ADAMTSL3","chr15:84539619","c.868C>G(E9)","p.290,L>V","rs4144691",0.81,0.72,0.7,0.75,0.76,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"错义",12220,"1.00=585/585","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v23649",57,57,1,"12307A","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%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"同义",13203,"1.00=90/90","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v23650",17,17,1,"12307A","ADAMTSL3","chr15:84581904","c.1761T>C(E16)","p.587,R>R","rs4842923",0.69,0.72,0.69,0.74,0.72,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"同义",13203,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v23651",71,31,0.44,"12307A","ADAMTSL3","chr15:84639350","c.2605C>T(E20)","p.869,L>F","rs2277849",0.26,0.33,0.35,0.31,0.33,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"错义",12220,"0.44=58/131","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v23652",88,47,0.53,"12307A","ADAMTSL3","chr15:84442272","IVS3-3T>C","剪切位点","rs75442575",0.09,0.22,0.24,0.2,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"剪切位点",16202,"0.51=78/153","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v23653",44,43,0.98,"12307A","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",{"$nulls":3},5,null,9,0,"ADAMTSL3",1,190,"错义",12220,"0.99=75/76","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v23654",81,44,0.54,"12307A","ADAMTSL3","chr15:84651185","c.2805C>A(E21)","p.935,P>P","rs8031704",0.38,0.38,0.4,0.36,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"同义",13203,"0.52=77/149","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v23655",76,76,1,"12307A","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%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"错义",12220,"1.00=119/119","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v23656",14,8,0.57,"12307A","ADAMTSL3","chr15:84581889","c.1746G>A(E16)","p.582,P>P","rs12439867",0.39,0.34,0.31,0.37,0.34,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"同义",13203,"0.52=11/21","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12307A(99)v9424",17,17,1,"12307A","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",0.94,35,"同义",13203,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_025008.3"]
["12307A(99)v9424",17,17,1,"12307A","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",0.94,35,"同义",13203,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_025008.3"]
["12307A(99)v9425",7,7,1,"12307A","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",0.94,35,"同义",13203,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9425",7,7,1,"12307A","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",0.94,35,"同义",13203,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9426",1,1,1,"12307A","ADAMTSL4","chr1:150530590","c.2347T>G(E14)","p.783,C>G",{"$nulls":7},"纯合","可能相关","蛋白结构预测结果为有害",null,"瞳孔晶状体异位","AR",225200,2,1,6,2,"ADAMTSL4",0.94,35,"错义",12410,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9426",1,1,1,"12307A","ADAMTSL4","chr1:150530590","c.2347T>G(E14)","p.783,C>G",{"$nulls":7},"纯合","可能相关","蛋白结构预测结果为有害",null,"单纯性晶状体异位（隐性遗传）","AR",225100,2,1,6,2,"ADAMTSL4",0.94,35,"错义",12410,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9427",38,38,1,"12307A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,6,2,"ADAMTSL4",0.94,35,"错义",12220,"1.00=67/67","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9427",38,38,1,"12307A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"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",0.94,35,"错义",12220,"1.00=67/67","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9428",4,3,0.75,"12307A","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",0.94,35,"同义",13203,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9428",4,3,0.75,"12307A","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",0.94,35,"同义",13203,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9429",4,4,1,"12307A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,6,2,"ADAMTSL4",0.94,35,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v9429",4,4,1,"12307A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"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",0.94,35,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12307A(99)v26971",2,2,1,"12307A","ADAMTSL5","chr19:1510661","c.168A>G(E3)","p.56,S>S","rs265291",0.94,1,1,1,0.65,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTSL5",0.91,14,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",339366,"19p13.3","NM_213604.2"]
["12307A(99)v30628",7,3,0.43,"12307A","ADAP1","chr7:959692","IVS3-5G>A","剪切位点","rs6962883",0.12,0.25,0.25,0.26,0.22,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAP1",0.92,35,"剪切位点",16202,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869.2"]
["12307A(99)v30629",7,4,0.57,"12307A","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%",{"$nulls":4},5,null,3,0,"ADAP1",0.92,35,"错义",12230,"0.55=6/11","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869.2"]
["12307A(99)v30630",6,3,0.5,"12307A","ADAP1","chr7:975004","IVS2+7T>C","非编码区",{"$nulls":6},0,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"ADAP1",0.92,35,"非编码区",16403,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869.2"]
["12307A(99)v2876",90,45,0.5,"12307A","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",1,110,"非编码区",16203,"0.53=84/159","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12307A(99)v2876",90,45,0.5,"12307A","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",1,110,"非编码区",16203,"0.53=84/159","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12307A(99)v2877",51,51,1,"12307A","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",1,110,"错义",12220,"1.00=75/75","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12307A(99)v2877",51,51,1,"12307A","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",1,110,"错义",12220,"1.00=75/75","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12307A(99)v2878",20,20,1,"12307A","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",1,110,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12307A(99)v2878",20,20,1,"12307A","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",1,110,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12307A(99)v2879",41,41,1,"12307A","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",1,110,"错义",12230,"1.00=62/62","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12307A(99)v2879",41,41,1,"12307A","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",1,110,"错义",12230,"1.00=62/62","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12307A(99)v10138",32,19,0.59,"12307A","ADARB1","chr21:46641968","c.1962G>A(E11)","p.654,K>K","rs1051367",0.49,0.57,0.6,0.55,0.53,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADARB1",1,130,"同义",13203,"0.60=32/53","位于基因组单拷贝区域+DNA结构正常",104,"21q22.3","NM_001112.3"]
["12307A(99)v27517",5,5,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ADARB2",0.79,40,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702.3"]
["12307A(99)v27518",3,3,1,"12307A","ADARB2","chr10:1230968","c.1876C>T(E9)","p.626,A>T","rs2271275",0.54,0.65,0.65,0.66,0.58,0.68,"纯合","无关","有rs号，MAF>=5%",17544380,{"$nulls":3},5,null,2,0,"ADARB2",0.79,40,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702.3"]
["12307A(99)v19351",35,35,1,"12307A","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,{"$nulls":3},5,null,3,0,"ADAT1",1,160,"错义",12220,"1.00=52/52","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091.3"]
["12307A(99)v19352",93,93,1,"12307A","ADAT1","chr16:75646576","c.608G>T(E7)","p.203,T>N","rs3743599",0.27,0.74,0.73,0.75,0.72,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAT1",1,160,"错义",12220,"0.99=170/171","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091.3"]
["12307A(99)v19353",1,1,1,"12307A","ADAT1","chr16:75633618","m.2174G>C(E11)","非编码区","rs12600271",0.29,0.75,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAT1",1,160,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091.3"]
["12307A(99)v12553",1,1,1,"12307A","ADAT2","chr6:143744405","m.5817G>A(E6)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ADAT2",1,240,"非编码区",14400,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",134637,"6q24.2","NM_182503.2"]
["12307A(99)v8184",10,5,0.5,"12307A","ADCK1","chr14:78399867","m.1600T>C(E10)","非编码区","rs3087972",0.48,0.41,0.4,0.42,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCK1",1,80,"非编码区",14200,"0.55=6/11","位于基因组单拷贝区域+DNA结构正常",57143,"14q24.3","NM_001142545.1"]
["12307A(99)v31205",90,45,0.5,"12307A","ADCK3","chr1:227174210","c.1716T>C(E15)","p.572,S>S","rs3738725",0.31,0.24,0.25,0.24,0.21,0.23,"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",612016,5,3,3,1,"ADCK3",1,49,"同义",13203,"0.49=76/154","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12307A(99)v31206",59,29,0.49,"12307A","ADCK3","chr1:227174145","IVS14-9T>C","剪切位点","rs7552783",0.35,0.24,0.25,0.24,0.22,0.22,"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",612016,5,3,3,1,"ADCK3",1,49,"剪切位点",16202,"0.52=56/108","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12307A(99)v31207",54,26,0.48,"12307A","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",612016,5,3,3,1,"ADCK3",1,49,"同义",13203,"0.53=53/100","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12307A(99)v8648",10,10,1,"12307A","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",1,54,"错义",12220,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",79934,"19q13.2","NM_001142555.2"]
["12307A(99)v3796",26,26,1,"12307A","ADCK5","chr8:145603114","c.51A>C(E2)","p.17,R>S","rs6599528",0.63,0.66,0.7,0.62,0.59,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCK5",0.89,19,"错义",12220,"1.00=48/48","位于基因组单拷贝区域+DNA结构正常",203054,"8q24.3","NM_174922.3"]
["12307A(99)v3797",7,1,0.14,"12307A","ADCK5","chr8:145616895","c.914G>A(E8)","p.305,W>X",{"$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,2,0,"ADCK5",0.89,19,"截断",15400,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",203054,"8q24.3","NM_174922.3"]
["12307A(99)v21840",104,48,0.46,"12307A","ADCY10","chr1:167849414","c.696A>G(E8)","p.232,G>G","rs203849",0.49,0.31,0.3,0.33,0.29,0.33,"杂合","无关","有rs号，MAF>=5%","16038259;19093065","吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.44=78/178","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12307A(99)v21841",123,123,1,"12307A","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",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.99=276/278","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12307A(99)v21842",88,45,0.51,"12307A","ADCY10","chr1:167825606","c.1509A>G(E14)","p.503,F>F","rs2071922",0.21,0.46,0.43,0.5,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",19093065,"吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.50=76/151","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12307A(99)v21843",105,105,1,"12307A","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",143870,5,1,6,1,"ADCY10",1,200,"错义",12220,"1.00=192/192","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12307A(99)v21844",150,63,0.42,"12307A","ADCY10","chr1:167839578","c.1074G>A(E11)","p.358,V>V","rs67878347",0.13,0.15,0.13,0.17,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.44=118/269","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12307A(99)v21845",84,41,0.49,"12307A","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",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.50=67/133","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12307A(99)v17057",33,33,1,"12307A","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,5,0,"ADCY3",0.98,68,"同义",13203,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12307A(99)v17058",48,48,1,"12307A","ADCY3","chr2:25047408","IVS15-3A>G","剪切位点","rs7604576",0.52,0.64,0.61,0.67,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"剪切位点",16202,"1.00=78/78","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12307A(99)v17059",45,45,1,"12307A","ADCY3","chr2:25046090","c.2871T>C(E17)","p.957,S>S","rs1127568",0.69,0.85,0.84,0.86,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"同义",13203,"0.99=74/75","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12307A(99)v17060",20,20,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"同义",13203,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12307A(99)v17061",3,3,1,"12307A","ADCY3","chr2:25042625","m.3810C>G(E21)","非编码区","rs1044040",0.82,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12307A(99)v3256",25,24,0.96,"12307A","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%",{"$nulls":4},5,null,3,0,"ADCY4",0.96,65,"非编码区",16203,"0.97=36/37","位于基因组单拷贝区域+DNA结构正常",196883,"14q12","NM_001198568.1"]
["12307A(99)v3257",68,68,1,"12307A","ADCY4","chr14:24793600","IVS14-3G>A","剪切位点","rs1884366",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADCY4",0.96,65,"剪切位点",16202,"1.00=125/125","位于基因组单拷贝区域+DNA结构正常",196883,"14q12","NM_001198568.1"]
["12307A(99)v3258",73,36,0.49,"12307A","ADCY4","chr14:24787588","m.3687T>C(E25)","非编码区","rs3181385",0.056,0.1,0.13,0.068,null,0.089,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADCY4",0.96,65,"非编码区",14200,"0.47=64/135","位于基因组单拷贝区域+DNA结构正常",196883,"14q12","NM_001198568.1"]
["12307A(99)v28347",14,14,1,"12307A","ADCY5","chr3:123018963","IVS15+4A>G","剪切位点","rs4482616",0.81,0.89,0.9,0.89,0.85,0.88,"纯合","无关","有rs号，MAF>=5%",null,"家族性运动障碍性面部肌纤维颤搐症","AD",606703,5,1,1,1,"ADCY5",0.81,45,"剪切位点",16202,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",111,"3q21.1","NM_001199642.1"]
["12307A(99)v14669",29,9,0.31,"12307A","ADCY6","chr12:49177113","c.105T>G(E1)","p.35,A>A","rs2453486",0.29,0.37,0.34,0.39,0.32,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY6",1,55,"同义",13203,"0.29=15/51","位于基因组单拷贝区域+DNA结构正常",112,"12q12-q13","NM_015270.3"]
["12307A(99)v14670",8,1,0.12,"12307A","ADCY6","chr12:49176460","c.758A>G(E1)","p.253,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,"ADCY6",1,55,"错义",12410,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",112,"12q12-q13","NM_015270.3"]
["12307A(99)v23996",21,21,1,"12307A","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%",{"$nulls":4},5,null,1,0,"ADCY7",0.99,46,"同义",13203,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",113,"16q12.1","NM_001114.3"]
["12307A(99)v21642",113,52,0.46,"12307A","ADCY8","chr8:132002770","c.979G>A(E2)","p.327,L>L","rs2228950",0.31,0.082,0.086,0.078,0.094,0.092,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY8",0.97,130,"同义",13203,"0.46=88/191","位于基因组单拷贝区域+DNA结构正常",114,"8q24","NM_001115.2"]
["12307A(99)v21643",115,115,1,"12307A","ADCY8","chr8:131921956","c.1638A>G(E6)","p.546,P>P","rs12547243",0.54,0.65,0.7,0.59,0.64,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY8",0.97,130,"剪切位点",13202,"1.00=202/202","位于基因组单拷贝区域+DNA结构正常",114,"8q24","NM_001115.2"]
["12307A(99)v7862",53,52,0.98,"12307A","ADCY9","chr16:4164364","c.1080C>T(E2)","p.360,R>R","rs2230738",0.32,0.62,0.59,0.66,0.63,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,81,"同义",13203,"0.99=98/99","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12307A(99)v7863",2,2,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ADCY9",1,81,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12307A(99)v7864",32,32,1,"12307A","ADCY9","chr16:4016676","c.3162A>G(E11)","p.1054,H>H","rs2230742",0.73,0.85,0.85,0.85,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,81,"同义",13203,"1.00=51/51","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12307A(99)v7865",57,28,0.49,"12307A","ADCY9","chr16:4033436","c.2316T>C(E7)","p.772,I>M","rs2230739",0.26,0.4,0.4,0.39,0.41,0.49,"杂合","无关","有rs号，MAF>=5%","20386734;20459687;24934404",{"$nulls":3},5,null,5,0,"ADCY9",1,81,"错义",12220,"0.48=50/105","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12307A(99)v7866",14,7,0.5,"12307A","ADCY9","chr16:4027605","c.2706C>T(E9)","p.902,A>A","rs2240735",0.47,0.54,0.54,0.53,0.47,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,81,"同义",13203,"0.62=13/21","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12307A(99)v18266",57,26,0.46,"12307A","ADCYAP1","chr18:909561","c.456A>G(E5)","p.152,K>K","rs2231187",0.2,0.26,0.29,0.22,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",18349695,{"$nulls":3},5,null,2,0,"ADCYAP1",1,32,"同义",13203,"0.46=39/84","位于基因组单拷贝区域+DNA结构正常",116,"18p11","NM_001099733.1"]
["12307A(99)v18267",4,4,1,"12307A","ADCYAP1","chr18:907675","c.126G>A(E3)","p.42,A>A","rs8192597",0.7,0.87,0.85,0.88,0.64,0.85,"纯合","无关","有rs号，MAF>=5%",23981011,{"$nulls":3},5,null,2,0,"ADCYAP1",1,32,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",116,"18p11","NM_001099733.1"]
["12307A(99)v1776",2,2,1,"12307A","ADCYAP1R1","chr7:31146455","m.1853A>G(E16)","非编码区","rs2302476",0.51,0.74,0.69,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCYAP1R1",0.94,100,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",117,"7p14","NM_001118.4"]
["12307A(99)v10211",100,56,0.56,"12307A","ADGB","chr6:146993445","c.929T>C(E8)","p.310,I>T","rs9497606",0.28,0.096,0.11,0.078,0.1,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"错义",12220,"0.54=102/189","位于基因组单拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12307A(99)v10212",3,2,0.67,"12307A","ADGB","chr6:147136528","m.5220T>C(E36)","非编码区","rs1052451",0.43,0.67,0.65,0.69,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"非编码区",14200,"0.67=2/3","位于基因组多拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12307A(99)v10213",73,37,0.51,"12307A","ADGB","chr6:147136212","c.4863A>T(E36)","p.1621,E>D","rs1052444",0.4,0.67,0.65,0.69,0.62,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"错义",12220,"0.50=64/127","位于基因组多拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12307A(99)v10214",53,21,0.4,"12307A","ADGB","chr6:147136244","c.4895A>G(E36)","p.1632,H>R","rs259370",0.73,0.77,0.74,0.81,0.75,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"错义",12220,"0.40=36/91","位于基因组多拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12307A(99)v10215",115,115,1,"12307A","ADGB","chr6:147106841","c.4308A>G(E32)","p.1436,K>K","rs259391",0.55,0.4,0.38,0.42,0.45,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"同义",13203,"1.00=208/208","位于基因组单拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12307A(99)v10216",9,5,0.56,"12307A","ADGB","chr6:147136444","m.5136A>C(E36)","非编码区","rs1052449",0.43,0.67,0.65,0.69,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"非编码区",14200,"0.50=5/10","位于基因组多拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12307A(99)v31081",198,92,0.46,"12307A","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",1,410,"非编码区",14200,"0.49=164/338","位于基因组多拷贝区域+DNA结构正常",125,"4q23","NM_000668.4"]
["12307A(99)v31082",184,89,0.48,"12307A","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",1,410,"错义",12220,"0.49=149/305","位于基因组多拷贝区域+DNA结构正常",125,"4q23","NM_000668.4"]
["12307A(99)v31083",273,271,0.99,"12307A","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",1,410,"同义",13203,"0.99=542/546","位于基因组多拷贝区域+DNA结构正常",125,"4q23","NM_000668.4"]
["12307A(99)v9478",85,39,0.46,"12307A","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,168600,5,2,3,2,"ADH1C",1,390,"同义",13203,"0.40=58/146","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12307A(99)v9478",85,39,0.46,"12307A","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,103780,5,2,3,2,"ADH1C",1,390,"同义",13203,"0.40=58/146","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12307A(99)v9479",155,154,0.99,"12307A","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,168600,5,1,3,2,"ADH1C",1,390,"加长",15200,"0.99=285/287","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12307A(99)v9479",155,154,0.99,"12307A","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,103780,5,1,3,2,"ADH1C",1,390,"加长",15200,"0.99=285/287","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12307A(99)v9480",248,120,0.48,"12307A","ADH1C","chr4:100268979","c.43G>A(E2)","p.15,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"迟发型帕金森病（易感）",null,168600,4,2,3,2,"ADH1C",1,390,"同义",13403,"0.49=225/460","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12307A(99)v9480",248,120,0.48,"12307A","ADH1C","chr4:100268979","c.43G>A(E2)","p.15,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"酒精依赖症",null,103780,4,2,3,2,"ADH1C",1,390,"同义",13403,"0.49=225/460","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12307A(99)v2780",103,103,1,"12307A","ADH4","chr4:100062819","c.135A>G(E3)","p.45,S>S","rs2032349",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,6,0,"ADH4",1,240,"同义",13203,"1.00=166/166","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12307A(99)v2781",65,65,1,"12307A","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%",{"$nulls":4},5,null,6,0,"ADH4",1,240,"非编码区",14200,"0.99=106/107","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12307A(99)v2782",126,125,0.99,"12307A","ADH4","chr4:100045616","c.1120C>T(E9)","p.374,V>I","rs1126673",0.85,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,6,0,"ADH4",1,240,"错义",12220,"1.00=234/235","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12307A(99)v2783",203,203,1,"12307A","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",{"$nulls":3},5,null,6,0,"ADH4",1,240,"同义",13203,"1.00=350/350","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12307A(99)v2784",150,150,1,"12307A","ADH4","chr4:100048414","c.925T>C(E7)","p.309,I>V","rs1126671",0.85,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","16220108;16685648;17069770;17185388;17273965;18331377;19193628;19298322;19925625",{"$nulls":3},5,null,6,0,"ADH4",1,240,"错义",12220,"0.99=252/255","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12307A(99)v2785",121,120,0.99,"12307A","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%",{"$nulls":4},5,null,6,0,"ADH4",1,240,"非编码区",14200,"0.99=205/207","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12307A(99)v31322",138,137,0.99,"12307A","ADH6","chr4:100140306","c.4A>T(E1)","p.2,C>S","rs4699735",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADH6",1,250,"错义",12230,"1.00=263/264","位于基因组单拷贝区域+DNA结构正常",130,"4q23","NM_000672.3"]
["12307A(99)v18352",51,22,0.43,"12307A","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%",{"$nulls":4},5,null,2,0,"ADHFE1",0.96,260,"非编码区",14200,"0.45=30/67","位于基因组单拷贝区域+DNA结构正常",137872,"8q13.1","NM_144650.2"]
["12307A(99)v18353",211,102,0.48,"12307A","ADHFE1","chr8:67380528","c.1345T>C(E14)","p.449,C>R","rs1060242",0.58,0.36,0.36,0.36,0.39,0.41,"杂合","无关","有rs号，MAF>=5%",17708757,{"$nulls":3},5,null,2,0,"ADHFE1",0.96,260,"错义",12220,"0.52=208/402","位于基因组单拷贝区域+DNA结构正常",137872,"8q13.1","NM_144650.2"]
["12307A(99)v8567",54,28,0.52,"12307A","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%",{"$nulls":4},5,null,1,0,"ADI1",0.78,130,"非编码区",14200,"0.54=46/85","位于基因组单拷贝区域+DNA结构正常",55256,"2p25.3","NM_018269.3"]
["12307A(99)v15848",66,32,0.48,"12307A","ADIPOQ","chr3:186570892","c.45T>G(E3)","p.15,G>G","rs2241766",0.15,0.28,0.31,0.25,0.27,0.31,"杂合","无关","有rs号，MAF>=5%","15616038;16990411;17357083;17712123;18451143;18523726;18548168;18603647;18716158;18776141;18827209;19035456;19037660;19238139;19573164;19631916;19661719;19696691;19755407;19912668;20201642;20230294;20414354;20664545;20848215;21054480;21219602;21397927;21516303;21619462;21623778;21630088;21637951;21638131;21726267;22070425;22386722;22391941;22583123;22714914;23041095;23065236;23144319;23144325;23200411;23260797;23370338;23552441;23653335;23658423;23740135;23803590;24068295;24293390;24344808;24528335;24713294;24720830;25024592;25074391;25135112;25223469","血清脂联素数量性状位点1",null,612556,5,2,1,1,"ADIPOQ",1,150,"同义",13203,"0.50=49/98","位于基因组单拷贝区域+DNA结构正常",9370,"3q27","NM_001177800.1"]
["12307A(99)v11079",25,25,1,"12307A","ADIPOR1","chr1:202920300","IVS1-8A>C","剪切位点","rs2275737",0.64,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADIPOR1",1,170,"剪切位点",16202,"1.00=30/30","位于基因组单拷贝区域+DNA结构正常",51094,"1q32.1","NM_015999.4"]
["12307A(99)v7269",27,13,0.48,"12307A","ADIPOR2","chr12:1895372","m.1492G>A(E8)","非编码区","rs730032",0.13,0.14,0.14,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADIPOR2",1,170,"非编码区",14200,"0.50=16/32","位于基因组单拷贝区域+DNA结构正常",79602,"12p13.31","NM_024551.2"]
["12307A(99)v7270",27,27,1,"12307A","ADIPOR2","chr12:1895373","m.1493T>G(E8)","非编码区","rs758169",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADIPOR2",1,170,"非编码区",14200,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",79602,"12p13.31","NM_024551.2"]
["12307A(99)v14529",2,2,1,"12307A","ADK","chr10:75936611","m.365C>T(E1)","非编码区","rs10824095",0.63,0.37,0.37,0.38,0.31,0.38,"纯合","无关","有rs号，MAF>=5%",null,"高蛋氨酸血症（腺苷激酶缺乏）","AR",614300,5,1,1,1,"ADK",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",132,"10q22|10q11-q24","NM_001123.3"]
["12307A(99)v3413",20,20,1,"12307A","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",1,150,"非编码区",14200,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",23394,"20q13.13","NM_015339.2"]
["12307A(99)v11698",19,19,1,"12307A","ADNP2","chr18:77894844","c.1548G>A(E4)","p.516,P>P","rs3744877",0.42,0.54,0.6,0.48,0.51,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,110,"同义",13203,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",22850,"18q23","NM_014913.3"]
["12307A(99)v11699",30,30,1,"12307A","ADNP2","chr18:77896242","c.2946C>T(E4)","p.982,D>D","rs3826595",0.29,0.46,0.51,0.41,0.41,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,110,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",22850,"18q23","NM_014913.3"]
["12307A(99)v21375",9,1,0.11,"12307A","ADO","chr10:64565524","c.705C>T(E1)","p.235,S>S",{"$nulls":6},0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ADO",0.73,5.3,"同义",13403,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",84890,"10q21.3","NM_032804.5"]
["12307A(99)v30268",32,15,0.47,"12307A","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%",{"$nulls":4},5,null,2,0,"ADORA1",1,81,"同义",13203,"0.53=29/55","位于基因组单拷贝区域+DNA结构正常",134,"1q32.1","NM_000674.2"]
["12307A(99)v30269",2,2,1,"12307A","ADORA1","chr1:203135841-203135841","m.2227(E4):缺失T","非编码区","rs11315020",0.9,0.8,0.82,0.78,0,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ADORA1",1,81,"非编码区",2420,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",134,"1q32.1","NM_000674.2"]
["12307A(99)v12708",14,8,0.57,"12307A","ADORA2A","chr22:24837301","c.1083T>C(E3)","p.361,Y>Y","rs5751876",0.44,0.5,0.47,0.52,0.44,0.51,"杂合","无关","有rs号，MAF>=5%","18305461;18759349;19565319;19591938;19902562;20334879;20386734;20396431;20520601;22012471;22336631;22940476;23018769;23332182;23535492",{"$nulls":3},5,null,1,0,"ADORA2A",1,43,"同义",13203,"0.62=13/21","位于基因组单拷贝区域+DNA结构正常",135,"22q11.23","NM_000675.4"]
["12307A(99)v26491",114,53,0.46,"12307A","ADORA3","chr1:112033285","c.207G>C(E2)","p.69,L>L","rs2275797",0.15,0.24,0.21,0.27,0.26,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADORA3",1,130,"同义",13203,"0.47=100/213","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_001081976.1"]
["12307A(99)v26492",54,30,0.56,"12307A","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%",{"$nulls":4},5,null,4,0,"ADORA3",1,130,"同义",13203,"0.48=40/84","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12307A(99)v26493",1,1,1,"12307A","ADORA3","chr1:112042236","m.2060G>A(E2)","非编码区","rs1415793",0.77,0.76,0.76,0.76,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADORA3",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",140,"1p13.2","NM_000677.3"]
["12307A(99)v26494",1,1,1,"12307A","ADORA3","chr1:112042195","m.2101T>C(E2)","非编码区","rs1415792",0.77,0.76,0.76,0.76,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADORA3",1,130,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12307A(99)v27224",31,11,0.35,"12307A","ADPGK","chr15:73044575","m.1692G>A(E7)","非编码区","rs9460",0.44,0.24,0.23,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPGK",0.88,140,"非编码区",14200,"0.33=15/46","位于基因组单拷贝区域+DNA结构正常",83440,"15q24.1","NM_031284.4"]
["12307A(99)v27225",188,188,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ADPGK",0.88,140,"同义",13203,"1.00=414/414","位于基因组单拷贝区域+DNA结构正常",83440,"15q24.1","NM_031284.4"]
["12307A(99)v14201",47,47,1,"12307A","ADPRH","chr3:119305379","c.546T>A(E4)","p.182,A>A","rs25676",0.41,0.54,0.55,0.52,0.43,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRH",1,85,"同义",13203,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",141,"3q13.31-q13.33","NM_001125.2"]
["12307A(99)v14202",61,36,0.59,"12307A","ADPRH","chr3:119301139","c.123C>T(E3)","p.41,G>G","rs20568",0.15,0.28,0.3,0.26,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRH",1,85,"同义",13203,"0.60=60/100","位于基因组单拷贝区域+DNA结构正常",141,"3q13.31-q13.33","NM_001125.2"]
["12307A(99)v15415",39,16,0.41,"12307A","ADPRHL2","chr1:36557619","c.625G>A(E4)","p.209,E>K","rs2236387",0.17,0.26,0.21,0.3,0.3,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADPRHL2",0.81,83,"错义",12220,"0.37=21/57","位于基因组单拷贝区域+DNA结构正常",54936,"1p34.3","NM_017825.2"]
["12307A(99)v7236",5,3,0.6,"12307A","ADPRM","chr17:10614673","m.1316G>A(E4)","非编码区","rs445928",0.49,0.4,0.41,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,200,"非编码区",14200,"0.67=4/6","位于基因组单拷贝区域+DNA结构正常",56985,"17p13.1","NM_020233.4"]
["12307A(99)v7237",85,31,0.36,"12307A","ADPRM","chr17:10614442","c.1010A>G(E4)","p.337,E>G","rs406446",0.49,0.4,0.41,0.38,0.37,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,200,"错义",12220,"0.37=52/139","位于基因组单拷贝区域+DNA结构正常",56985,"17p13.1","NM_020233.4"]
["12307A(99)v892",68,67,0.99,"12307A","ADRA1A","chr8:26628028","c.1039A>G(E2)","p.347,C>R","rs1048101",0.65,0.89,0.92,0.86,0.85,0.91,"纯合","无关","有rs号，MAF>=5%","15900517;16642433;18444252;19102884;19565482;19730237;20173430;23849431",{"$nulls":3},5,null,2,0,"ADRA1A",0.91,77,"错义",12220,"0.97=116/119","位于基因组单拷贝区域+DNA结构正常",148,"8p21.2","NM_000680.2"]
["12307A(99)v893",11,1,0.09,"12307A","ADRA1A","chr8:26623477-26623478","m.1895(E3)至m.1894(E3):插入TTGTGAAAAGAAA","非编码区","rs34651910",0.64,0.89,0.92,0.86,0.02,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ADRA1A",0.91,77,"非编码区",2420,"0.09=1/11","位于基因组单拷贝区域+DNA结构正常",148,"8p21.2","NM_033304.2"]
["12307A(99)v25566",20,12,0.6,"12307A","ADRA1D","chr20:4228485","IVS1+9G>T","非编码区","rs3746669",0.078,0.32,0.32,0.32,null,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADRA1D",0.85,8.7,"非编码区",16203,"0.61=19/31","位于基因组单拷贝区域+DNA结构正常",146,"20p13","NM_000678.3"]
["12307A(99)v24465",12,10,0.83,"12307A","ADRA2A","chr10:112838892","c.1138C>A(E1)","p.380,R>R","rs1800038",0.13,0.31,0.34,0.29,0.24,0.32,"杂合","无关","有rs号，MAF>=5%",19423370,{"$nulls":3},5,null,1,0,"ADRA2A",0.88,14,"同义",13203,"0.85=17/20","位于基因组单拷贝区域+DNA结构正常",150,"10q25.2","NM_000681.3"]
["12307A(99)v13530",92,41,0.45,"12307A","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",600807,5,1,4,2,"ADRB2",1,110,"同义",13203,"0.46=62/136","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12307A(99)v13530",92,41,0.45,"12307A","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,607514,5,2,4,2,"ADRB2",1,110,"同义",13203,"0.46=62/136","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12307A(99)v13531",16,7,0.44,"12307A","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",600807,5,1,4,2,"ADRB2",1,110,"错义",12230,"0.44=11/25","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12307A(99)v13531",16,7,0.44,"12307A","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,607514,5,2,4,2,"ADRB2",1,110,"错义",12230,"0.44=11/25","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12307A(99)v13532",8,4,0.5,"12307A","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",600807,5,1,4,2,"ADRB2",1,110,"错义",12230,"0.58=7/12","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12307A(99)v13532",8,4,0.5,"12307A","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,607514,5,2,4,2,"ADRB2",1,110,"错义",12230,"0.58=7/12","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12307A(99)v13533",3,2,0.67,"12307A","ADRB2","chr5:148206375","m.220C>T(E1)","非编码区","rs1801704",0.79,0.92,0.95,0.89,0.65,0.91,"杂合","无关","有rs号，MAF>=5%",null,"哮喘，易感","AD",600807,5,1,4,2,"ADRB2",1,110,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12307A(99)v13533",3,2,0.67,"12307A","ADRB2","chr5:148206375","m.220C>T(E1)","非编码区","rs1801704",0.79,0.92,0.95,0.89,0.65,0.91,"杂合","无关","有rs号，MAF>=5%",null,"体重指数数量性状位点10",null,607514,5,2,4,2,"ADRB2",1,110,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12307A(99)v3267",138,2,0.01,"12307A","ADRB3","chr8:37821647-37821647","m.1513(E2):缺失G","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"体重指数数量性状位点10",null,607514,3,2,1,1,"ADRB3",0.99,13,"非编码区",2440,"0.01=2/155","位于基因组单拷贝区域+DNA结构正常",155,"8p12","NM_000025.2"]
["12307A(99)v18090",2,2,1,"12307A","ADRBK1","chr11:67034266","c.96C>A(E1)","p.32,I>I","rs2228418",0.65,0.73,0.69,0.78,0.54,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRBK1",0.99,41,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",156,"11q13.1","NM_001619.3"]
["12307A(99)v18091",6,5,0.83,"12307A","ADRBK1","chr11:67050292","IVS14+3G>A","剪切位点","rs2071007",0.65,0.73,0.69,0.78,0.61,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRBK1",0.99,41,"剪切位点",16202,"0.80=8/10","位于基因组单拷贝区域+DNA结构正常",156,"11q13.1","NM_001619.3"]
["12307A(99)v31772",144,2,0.01,"12307A","ADRBK2","chr22:26118369-26118369","c.2019(E21):缺失G","缺失移码",{"$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",{"$nulls":4},1,null,1,0,"ADRBK2",0.95,290,"缺失移码",2140,"0.01=2/154","位于基因组单拷贝区域+DNA结构正常",157,"22q12.1","NM_005160.3"]
["12307A(99)v29482",23,23,1,"12307A","ADRM1","chr20:60881330","c.408G>A(E4)","p.136,A>A","rs2427273",0.82,0.97,0.98,0.97,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRM1",0.98,35,"同义",13203,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12307A(99)v29483",3,3,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ADRM1",0.98,35,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12307A(99)v19519",2,2,1,"12307A","ADSS","chr1:244572581","m.1995T>C(E13)","非编码区","rs3087609",0.18,0.22,0.22,0.22,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADSS",1,380,"非编码区",14200,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",159,"1q44","NM_001126.3"]
["12307A(99)v13585",8,7,0.88,"12307A","ADSSL1","chr14:105196365","c.136T>C(E1)","p.46,L>L","rs33958252",0.61,0.63,0.62,0.64,0.52,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADSSL1",0.89,63,"同义",13203,"0.92=11/12","位于基因组单拷贝区域+DNA结构正常",122622,"14q32.33","NM_199165.1"]
["12307A(99)v11033",101,100,0.99,"12307A","ADTRP","chr6:11723636","c.658C>T(E6)","p.220,V>I","rs2076185",0.16,0.5,0.49,0.5,0.45,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADTRP",1,250,"错义",12220,"0.99=188/190","位于基因组单拷贝区域+DNA结构正常",84830,"6p24.1","NM_001143948.1"]
["12307A(99)v6686",34,34,1,"12307A","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%",{"$nulls":4},5,null,2,0,"AEBP1",1,61,"同义",13203,"1.00=61/61","位于基因组单拷贝区域+DNA结构正常",165,"7p13","NM_001129.3"]
["12307A(99)v6687",9,6,0.67,"12307A","AEBP1","chr7:44147485","c.817C>A(E5)","p.273,P>T","rs2537188",0.36,0.27,0.27,0.27,0.21,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEBP1",1,61,"错义",12220,"0.70=7/10","位于基因组单拷贝区域+DNA结构正常",165,"7p13","NM_001129.3"]
["12307A(99)v70",11,3,0.27,"12307A","AEN","chr15:89169858","c.418A>G(E2)","p.140,N>D","rs8027765",0.76,0.77,0.79,0.76,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AEN",1,22,"错义",12220,"0.33=7/21","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12307A(99)v71",26,9,0.35,"12307A","AEN","chr15:89172558","c.642G>C(E3)","p.214,T>T","rs3743475",0.75,0.77,0.79,0.76,0.75,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AEN",1,22,"同义",13203,"0.28=13/46","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12307A(99)v72",11,1,0.09,"12307A","AEN","chr15:89172662","IVS3+5G>T","剪切位点","rs144481089",{"$nulls":6},"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,4,0,"AEN",1,22,"剪切位点",16301,"0.19=4/21","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12307A(99)v73",10,1,0.1,"12307A","AEN","chr15:89173289","c.742G>T(E4)","p.248,V>L",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"AEN",1,22,"错义",12410,"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"]
["12307A(99)v8197",12,4,0.33,"12307A","AES","chr19:3062857","c.69T>C(E1)","p.23,L>L","rs11539938",0.39,0.5,0.47,0.53,0.41,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AES",1,23,"同义",13203,"0.23=5/22","位于基因组单拷贝区域+DNA结构正常",166,"19p13.3","NM_198969.1"]
["12307A(99)v2392",9,4,0.44,"12307A","AFAP1","chr4:7774610","c.2190C>T(E16)","p.730,A>A","rs2276967",0.18,0.44,0.44,0.45,0.36,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"0.44=7/16","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12307A(99)v2393",118,63,0.53,"12307A","AFAP1","chr4:7783286","c.1599G>A(E13)","p.533,N>N","rs10516189",0.21,0.49,0.48,0.5,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"0.54=107/200","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12307A(99)v2394",81,81,1,"12307A","AFAP1","chr4:7770723","c.2266G>T(E17)","p.756,R>R","rs2285761",0.37,0.65,0.67,0.63,0.67,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"1.00=149/149","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12307A(99)v2395",85,85,1,"12307A","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%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12307A(99)v2396",117,59,0.5,"12307A","AFAP1","chr4:7765495","c.2442G>T(E18)","p.814,T>T","rs2240053",0.24,0.4,0.4,0.4,0.42,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"0.49=97/197","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12307A(99)v2397",74,30,0.41,"12307A","AFAP1","chr4:7845067","c.345G>A(E5)","p.115,S>S","rs62289296",0.15,0.2,0.24,0.16,0.21,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"0.43=51/118","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12307A(99)v2398",5,2,0.4,"12307A","AFAP1","chr4:7765193","m.3017A>G(E18)","非编码区","rs2240054",0.27,0.41,0.41,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"非编码区",14200,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12307A(99)v30090",26,26,1,"12307A","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%",{"$nulls":4},5,null,5,0,"AFAP1L2",1,92,"非编码区",16203,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12307A(99)v30091",2,2,1,"12307A","AFAP1L2","chr10:116055417","m.3142C>T(E19)","非编码区","rs3750821",0.6,0.7,0.7,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AFAP1L2",1,92,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12307A(99)v30092",36,35,0.97,"12307A","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%",{"$nulls":4},5,null,5,0,"AFAP1L2",1,92,"同义",13203,"0.98=54/55","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12307A(99)v30093",29,29,1,"12307A","AFAP1L2","chr10:116060387","c.1605T>C(E14)","p.535,R>R","rs2286396",null,0.72,0.72,0.71,0.68,0.73,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"AFAP1L2",1,92,"同义",13303,"1.00=51/51","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12307A(99)v30094",29,19,0.66,"12307A","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",{"$nulls":4},5,null,5,0,"AFAP1L2",1,92,"非编码区",2500,"0.68=21/31","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12307A(99)v27745",55,54,0.98,"12307A","AFF1","chr4:88056925","m.4004A>G(E21)","非编码区","rs342464",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AFF1",1,170,"非编码区",14200,"0.99=91/92","位于基因组单拷贝区域+DNA结构正常",4299,"4q21","NM_001166693.1"]
["12307A(99)v27746",153,1,0.01,"12307A","AFF1","chr4:88055714-88055714","c.3403(E20):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,"AFF1",1,170,"缺失移码",2140,"0.01=2/167","位于基因组单拷贝区域+DNA结构正常",4299,"4q21","NM_001166693.1"]
["12307A(99)v14085",145,145,1,"12307A","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",1,230,"非编码区",16303,"1.00=253/253","位于基因组单拷贝区域+DNA结构正常",2334,"Xq28","NM_001169122.1"]
["12307A(99)v3959",9,1,0.11,"12307A","AFF3","chr2:100170835","c.3572T>C(E23)","p.1191,N>S",{"$nulls":6},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"AFF3",0.93,110,"错义",12410,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",3899,"2q11.2-q12","NM_001025108.1"]
["12307A(99)v3960",199,199,1,"12307A","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,2,0,"AFF3",0.93,110,"错义",12230,"1.00=350/350","位于基因组单拷贝区域+DNA结构正常",3899,"2q11.2-q12","NM_001025108.1"]
["12307A(99)v28185",124,53,0.43,"12307A","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",0.95,250,"同义",13203,"0.46=102/224","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12307A(99)v28185",124,53,0.43,"12307A","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",0.95,250,"同义",13203,"0.46=102/224","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12307A(99)v28186",104,57,0.55,"12307A","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",0.95,250,"非编码区",14200,"0.55=86/156","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12307A(99)v28186",104,57,0.55,"12307A","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",0.95,250,"非编码区",14200,"0.55=86/156","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12307A(99)v28187",167,73,0.44,"12307A","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",0.95,250,"剪切位点",16202,"0.44=132/297","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12307A(99)v28187",167,73,0.44,"12307A","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",0.95,250,"剪切位点",16202,"0.44=132/297","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12307A(99)v28188",135,77,0.57,"12307A","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",0.95,250,"同义",13203,"0.56=130/232","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12307A(99)v28188",135,77,0.57,"12307A","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",0.95,250,"同义",13203,"0.56=130/232","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12307A(99)v28602",158,79,0.5,"12307A","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",1,230,"非编码区",16203,"0.50=141/281","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28602",158,79,0.5,"12307A","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",1,230,"非编码区",16203,"0.50=141/281","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28603",34,34,1,"12307A","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",1,230,"剪切位点",16202,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28603",34,34,1,"12307A","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",1,230,"剪切位点",16202,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28604",129,58,0.45,"12307A","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",1,230,"剪切位点",16202,"0.49=111/225","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28604",129,58,0.45,"12307A","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",1,230,"剪切位点",16202,"0.49=111/225","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28605",53,53,1,"12307A","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",1,230,"同义",13203,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28605",53,53,1,"12307A","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",1,230,"同义",13203,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28606",177,85,0.48,"12307A","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",1,230,"剪切位点",16202,"0.50=164/327","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v28606",177,85,0.48,"12307A","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",1,230,"剪切位点",16202,"0.50=164/327","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12307A(99)v11536",177,95,0.54,"12307A","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",1,190,"剪切位点",16201,"0.52=170/325","位于基因组单拷贝区域+DNA结构正常",54812,"2p14","NM_001002243.2"]
["12307A(99)v11537",81,39,0.48,"12307A","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%",{"$nulls":4},5,null,3,0,"AFTPH",1,190,"错义",12220,"0.43=51/118","位于基因组单拷贝区域+DNA结构正常",54812,"2p14","NM_001002243.2"]
["12307A(99)v11538",183,2,0.01,"12307A","AFTPH","chr2:64778672-64778674","c.64(E2)至c.66(E2):缺失GAT","缺失非移码",{"$nulls":5},0,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AFTPH",1,190,"缺失非移码",2241,"0.01=2/213","位于基因组单拷贝区域+简单重复结构",54812,"2p14","NM_001002243.2"]
["12307A(99)v9915",117,117,1,"12307A","AGA","chr4:178359960","c.446G>C(E4)","p.149,T>S","rs2228119",0.92,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,1,1,1,"AGA",1,240,"错义",12220,"1.00=224/224","位于基因组单拷贝区域+DNA结构正常",175,"4q34.3","NM_000027.3"]
["12307A(99)v15391",94,43,0.46,"12307A","AGAP1","chr2:236659110","c.651T>C(E6)","p.217,N>N","rs112666282",0.029,0.022,0.029,0.015,0.028,0.021,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"AGAP1",0.94,100,"同义",13103,"0.46=73/158","位于基因组单拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12307A(99)v15392",85,85,1,"12307A","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%",{"$nulls":4},5,null,2,0,"AGAP1",0.94,100,"错义",12220,"1.00=154/154","位于基因组多拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12307A(99)v20232",109,109,1,"12307A","AGAP11","chr10:88768657","c.648C>T(E12)","p.216,D>D","rs1745901",0.78,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP11",1,180,"同义",13203,"1.00=169/169","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12307A(99)v20233",54,54,1,"12307A","AGAP11","chr10:88768423","c.414A>G(E12)","p.138,T>T","rs2641562",0.4,0.69,0.73,0.65,0.68,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP11",1,180,"同义",13203,"1.00=78/78","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12307A(99)v20234",149,146,0.98,"12307A","AGAP11","chr10:88768253","c.244A>G(E12)","p.82,I>V","rs2641563",0.79,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP11",1,180,"错义",12220,"0.98=232/236","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12307A(99)v11285",4,1,0.25,"12307A","AGAP3","chr7:150820701","m.2021G>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,"AGAP3",0.97,37,"非编码区",14400,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",116988,"7q36.1","NM_001042535.1"]
["12307A(99)v11286",111,1,0.01,"12307A","AGAP3","chr7:150819921-150819921","m.1241(E9):缺失G","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,"AGAP3",0.97,37,"非编码区",2440,"0.02=2/125","位于基因组单拷贝区域+DNA结构正常",116988,"7q36.1","NM_001042535.1"]
["12307A(99)v25338",65,33,0.51,"12307A","AGAP4","chr10:46321905","c.1450G>A(E7)","p.484,R>C","rs200463969",{"$nulls":5},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AGAP4",1,110,"错义",12310,"0.48=43/89","位于基因组多拷贝区域+DNA结构正常",119016,"10q11.22","NM_133446.2"]
["12307A(99)v25339",28,15,0.54,"12307A","AGAP4","chr10:46321555","c.1800G>A(E7)","p.600,D>D",{"$nulls":5},0.047,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"AGAP4",1,110,"同义",13403,"0.53=16/30","位于基因组多拷贝区域+DNA结构正常",119016,"10q11.22","NM_133446.2"]
["12307A(99)v25340",29,22,0.76,"12307A","AGAP4","chr10:46321527","c.1828G>A(E7)","p.610,R>C","rs200049550",{"$nulls":4},0.06,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AGAP4",1,110,"错义",12310,"0.74=26/35","位于基因组多拷贝区域+DNA结构正常",119016,"10q11.22","NM_133446.2"]
["12307A(99)v20140",68,20,0.29,"12307A","AGAP5","chr10:75434260","m.2199T>A(E8)","非编码区","rs202243926",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AGAP5",1,190,"非编码区",14300,"0.29=37/127","位于基因组多拷贝区域+DNA结构正常",729092,"10q22.2","NM_001144000.1"]
["12307A(99)v20141",43,13,0.3,"12307A","AGAP5","chr10:75434641","c.1777G>A(E8)","p.593,R>W","rs201458716",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AGAP5",1,190,"错义",12310,"0.38=21/56","位于基因组多拷贝区域+DNA结构正常",729092,"10q22.2","NM_001144000.1"]
["12307A(99)v20142",108,43,0.4,"12307A","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,3,0,"AGAP5",1,190,"错义",12320,"0.43=81/187","位于基因组多拷贝区域+DNA结构正常",729092,"10q22.2","NM_001144000.1"]
["12307A(99)v26298",93,30,0.32,"12307A","AGAP6","chr10:51769562","c.1677G>A(E8)","p.559,T>T","rs201341309",0.066,0.019,0.0095,0.029,null,0.026,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AGAP6",1,170,"同义",13203,"0.33=48/146","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12307A(99)v26299",102,33,0.32,"12307A","AGAP6","chr10:51748584","c.109A>G(E1)","p.37,R>G","rs200504295",{"$nulls":5},0.014,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"AGAP6",1,170,"错义",12320,"0.29=46/157","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12307A(99)v26300",49,21,0.43,"12307A","AGAP6","chr10:51769670","c.1785C>T(E8)","p.595,T>T","rs201151847",0.066,0.019,0.0095,0.029,null,0.027,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AGAP6",1,170,"同义",13203,"0.43=26/60","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12307A(99)v26301",5,3,0.6,"12307A","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",{"$nulls":4},3,null,5,0,"AGAP6",1,170,"非编码区",2440,"0.57=4/7","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12307A(99)v26302",213,48,0.23,"12307A","AGAP6","chr10:51748683-51748684","c.208(E1)至c.209(E1):缺失CG插入A","复杂移码",{"$nulls":5},0.0039,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",{"$nulls":4},1,null,5,0,"AGAP6",1,170,"复杂移码",2140,"0.24=54/227","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12307A(99)v16404",77,77,1,"12307A","AGAP7","chr10:51465552","c.904A>T(E7)","p.302,Y>N","rs61850064",{"$nulls":4},0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"AGAP7",1,190,"错义",12320,"1.00=131/131","位于基因组多拷贝区域+DNA结构正常",653268,"10q11.23","NM_001077685.1"]
["12307A(99)v6192",30,20,0.67,"12307A","AGAP8","chr10:51225623","c.1359A>G(E7)","p.453,N>N","rs200187422",0.82,0.88,0.9,0.85,0.49,0,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGAP8",1,140,"同义",13203,"0.55=27/49","位于基因组多拷贝区域+DNA结构正常",728404,"10q11.23","NM_001077686.1"]
["12307A(99)v17731",206,206,1,"12307A","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",615523,5,1,3,1,"AGBL1",1,180,"同义",13203,"0.99=395/397","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12307A(99)v17732",132,132,1,"12307A","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",615523,5,1,3,1,"AGBL1",1,180,"同义",13203,"1.00=222/222","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12307A(99)v17733",31,31,1,"12307A","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",615523,5,1,3,1,"AGBL1",1,180,"错义",12220,"0.98=52/53","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12307A(99)v3499",86,85,0.99,"12307A","AGBL2","chr11:47701528","c.2013C>A(E13)","p.671,M>I","rs12286721",0.58,0.62,0.61,0.63,0.64,0.62,"纯合","无关","有rs号，MAF>=5%",19060910,{"$nulls":3},5,null,1,0,"AGBL2",1,240,"错义",12220,"0.99=160/161","位于基因组多拷贝区域+DNA结构正常",79841,"11p11.2","NM_024783.3"]
["12307A(99)v14081",122,59,0.48,"12307A","AGBL3","chr7:134678253","c.134T>A(E4)","p.45,F>Y","rs2348049",0.23,0.19,0.21,0.16,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,290,"错义",12220,"0.49=107/218","位于基因组单拷贝区域+DNA结构正常",340351,"7q33","NM_178563.3"]
["12307A(99)v14082",133,132,0.99,"12307A","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%",{"$nulls":4},5,null,3,0,"AGBL3",1,290,"同义",13203,"0.99=233/236","位于基因组单拷贝区域+DNA结构正常",340351,"7q33","NM_178563.3"]
["12307A(99)v14083",294,294,1,"12307A","AGBL3","chr7:134701856","c.364G>C(E5)","p.122,E>Q","rs4236655",0.91,1,1,1,1,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,290,"错义",12220,"0.99=596/600","位于基因组单拷贝区域+DNA结构正常",340351,"7q33","NM_178563.3"]
["12307A(99)v24181",2,1,0.5,"12307A","AGBL4","chr1:48998736","m.2779A>G(E14)","非编码区","rs572907370",0.0006,0.0048,0.0095,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"AGBL4",1,220,"非编码区",14100,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",84871,"1p33","NM_032785.3"]
["12307A(99)v24182",2,2,1,"12307A","AGBL4","chr1:48998708","m.2807T>C(E14)","非编码区","rs2803260",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"AGBL4",1,220,"非编码区",14300,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",84871,"1p33","NM_032785.3"]
["12307A(99)v24183",2,2,1,"12307A","AGBL4","chr1:48999555","m.1960T>C(E14)","非编码区","rs2798111",0.32,0.36,0.39,0.33,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGBL4",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",84871,"1p33","NM_032785.3"]
["12307A(99)v24184",2,1,0.5,"12307A","AGBL4","chr1:48998748","m.2767T>G(E14)","非编码区","rs2803261",0.45,0.57,0.57,0.57,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGBL4",1,220,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",84871,"1p33","NM_032785.3"]
["12307A(99)v11544",91,91,1,"12307A","AGBL5","chr2:27293150","m.2897G>T(E15)","非编码区","rs1053609",0.55,0.71,0.78,0.65,null,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGBL5",1,100,"非编码区",14200,"1.00=154/154","位于基因组单拷贝区域+DNA结构正常",60509,"2p23.3","NM_021831.5"]
["12307A(99)v12206",72,30,0.42,"12307A","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%",{"$nulls":4},5,null,2,0,"AGFG1",1,240,"同义",13203,"0.44=55/125","位于基因组单拷贝区域+DNA结构正常",3267,"2q36.3","NM_001135187.1"]
["12307A(99)v12207",188,89,0.47,"12307A","AGFG1","chr2:228396888","c.849T>C(E7)","p.283,G>G",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"AGFG1",1,240,"同义",13403,"0.44=165/375","位于基因组单拷贝区域+DNA结构正常",3267,"2q36.3","NM_001135187.1"]
["12307A(99)v8859",176,89,0.51,"12307A","AGGF1","chr5:76359024","c.2092C>A(E14)","p.698,P>T","rs34400049",0.21,0.24,0.25,0.23,0.26,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGGF1",1,280,"错义",12220,"0.48=142/296","位于基因组多拷贝区域+DNA结构正常",55109,"5q13.3","NM_018046.4"]
["12307A(99)v2511",205,87,0.42,"12307A","AGL","chr1:100357980","IVS23-8T>C","剪切位点","rs186402161",0.0006,0.0024,0.0048,0,0.012,7.6E-3,"杂合","未知","剪切位点预测结果为无害",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,4,3,3,1,"AGL",1,310,"剪切位点",16102,"0.40=150/376","位于基因组单拷贝区域+DNA结构正常",178,"1p21","NM_000028.2"]
["12307A(99)v2512",194,86,0.44,"12307A","AGL","chr1:100327026","m.261C>T(E1)","非编码区","rs2307129",0.23,0.1,0.12,0.087,null,0.12,"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",1,310,"非编码区",14200,"0.46=172/370","位于基因组单拷贝区域+DNA结构正常",178,"1p21","NM_000645.2"]
["12307A(99)v2513",168,72,0.43,"12307A","AGL","chr1:100336361","c.894C>T(E7)","p.298,L>L","rs2230306",0.76,0.69,0.67,0.71,0.63,0.68,"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",1,310,"同义",13203,"0.41=121/297","位于基因组单拷贝区域+DNA结构正常",178,"1p21","NM_000028.2"]
["12307A(99)v23631",37,36,0.97,"12307A","AGMAT","chr1:15909895","IVS1-5A>G","剪切位点","rs6429758",0.61,0.6,0.59,0.61,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGMAT",0.74,94,"剪切位点",16202,"0.98=58/59","位于基因组单拷贝区域+DNA结构正常",79814,"1p36.21","NM_024758.4"]
["12307A(99)v23632",47,47,1,"12307A","AGMAT","chr1:15909850","c.313C>G(E2)","p.105,G>R","rs6429757",0.63,0.6,0.59,0.61,0.6,0.63,"纯合","无关","有rs号，MAF>=5%",20808825,{"$nulls":3},5,null,2,0,"AGMAT",0.74,94,"错义",12220,"1.00=79/79","位于基因组单拷贝区域+DNA结构正常",79814,"1p36.21","NM_024758.4"]
["12307A(99)v12705",1,1,1,"12307A","AGPAT3","chr21:45402633","m.1593C>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,1,0,"AGPAT3",1,83,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",56894,"21q22.3","NM_001037553.1"]
["12307A(99)v27073",12,6,0.5,"12307A","AGPAT5","chr8:6566351","c.162C>G(E1)","p.54,L>L","rs62497278",0.12,0.35,0.36,0.34,0.26,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGPAT5",1,200,"同义",13203,"0.48=10/21","位于基因组单拷贝区域+DNA结构正常",55326,"8p23.1","NM_018361.3"]
["12307A(99)v473",86,47,0.55,"12307A","AGPHD1","chr15:78825562","c.672C>T(E5)","p.224,H>H","rs12906951",0.24,0.16,0.16,0.17,0.18,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGPHD1",1,200,"同义",13203,"0.54=81/150","位于基因组单拷贝区域+DNA结构正常",123688,"15q25.1","NM_001013619.2"]
["12307A(99)v19935",118,55,0.47,"12307A","AGR2","chr7:16834551","IVS7+9C>A","非编码区","rs4719480",0.92,0.97,0.98,0.97,0.95,0.96,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGR2",1,330,"非编码区",16203,"0.45=93/207","位于基因组单拷贝区域+DNA结构正常",10551,"7p21.3","NM_006408.3"]
["12307A(99)v18277",16,16,1,"12307A","AGRN","chr1:987200","IVS33+5C>T","剪切位点","rs9803031",0.79,1,0.99,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,6,1,"AGRN",0.8,11,"剪切位点",16202,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",375790,"1p36.33","NM_198576.3"]
["12307A(99)v16853",156,61,0.39,"12307A","AHNAK","chr11:62287828","c.14061T>C(E5)","p.4687,K>K","rs12292433",0.045,0.012,0.024,0,0.011,0.013,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"AHNAK",1,210,"同义",13103,"0.42=118/282","位于基因组多拷贝区域+DNA结构正常",79026,"11q12.2","NM_001620.1"]
["12307A(99)v7645",60,28,0.47,"12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.44=41/94","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420.2"]
["12307A(99)v7671",53,53,1,"12307A","AHNAK2","chr14:105415352","c.6436G>C(E7)","p.2146,L>V","rs12890949",null,0,0,0,0.51,null,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,78,0,"AHNAK2",1,79,"错义",12320,"0.99=90/91","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420.2"]
["12307A(99)v22354",19,7,0.37,"12307A","AIFM2","chr10:71874683","c.963G>A(E8)","p.321,Y>Y","rs2271696",0.14,0.14,0.16,0.12,0.11,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AIFM2",1,54,"同义",13203,"0.33=9/27","位于基因组单拷贝区域+DNA结构正常",84883,"10q22.1","NM_001198696.1"]
["12307A(99)v27029",193,193,1,"12307A","AK5","chr1:77763542","c.531G>A(E5)","p.177,K>K","rs1167206",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AK5",1,270,"同义",13203,"1.00=367/368","位于基因组单拷贝区域+DNA结构正常",26289,"1p31","NM_012093.3"]
["12307A(99)v30979",14,9,0.64,"12307A","AKAP13","chr15:86125304","c.4005C>T(E7)","p.1335,I>I","rs7179919",0.19,0.31,0.28,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"AKAP13",0.99,160,"同义",13203,"0.57=12/21","位于基因组单拷贝区域+DNA结构正常",11214,"15q24-q25","NM_006738.5"]
["12307A(99)v28477",164,164,1,"12307A","AKNAD1","chr1:109363232","c.2184T>C(E14)","p.728,K>K","rs1333130",0.39,0.71,0.72,0.7,0.67,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AKNAD1",1,180,"同义",13203,"1.00=323/324","位于基因组单拷贝区域+DNA结构正常",254268,"1p13.3","NM_152763.4"]
["12307A(99)v2191",114,50,0.44,"12307A","AKR1E2","chr10:4872887","c.60C>A(E2)","p.20,T>T","rs3750739",0.042,0.11,0.086,0.13,0.16,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"AKR1E2",0.96,180,"同义",13103,"0.42=83/198","位于基因组单拷贝区域+DNA结构正常",83592,"10p15.1","NM_001040177.2"]
["12307A(99)v21546",225,225,1,"12307A","ALDH7A1","chr5:125880589","m.1880T>C(E18)","非编码区","rs2775",0.36,0.35,0.36,0.33,null,null,"纯合","无关","有rs号，MAF>=5%",null,"吡哆醇依赖性癫痫","AR",266100,5,1,2,1,"ALDH7A1",1,290,"非编码区",14200,"1.00=352/353","位于基因组多拷贝区域+DNA结构正常",501,"5q31","NM_001182.4"]
["12307A(99)v12702",6,6,1,"12307A","ALG1L","chr3:125653291","c.26A>G(E2)","p.9,L>P","rs7633797",0.59,0.3,0.36,0.23,null,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ALG1L",0.67,59,"错义",12220,"1.00=8/8","位于基因组多拷贝区域+DNA结构正常",200810,"3q21.2","NM_001195223.1"]
["12307A(99)v20283",9,9,1,"12307A","ALKBH1","chr14:78139988","m.1346C>A(E6)","非编码区","rs1048147",0.16,0.31,0.31,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ALKBH1",1,150,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",8846,"14q24.3","NM_006020.2"]
["12307A(99)v19886",2,2,1,"12307A","ALPL","chr1:21889635","c.330T>C(E5)","p.110,S>S","rs1780316",0.93,0.99,0.99,0.99,0.84,0.99,"纯合","无关","有rs号，MAF>=5%",null,"幼儿型低磷酸酯酶症","AR",241510,5,1,4,3,"ALPL",0.86,58,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",249,"1p36.12","NM_000478.4"]
["12307A(99)v7510",12,12,1,"12307A","ALS2CR12","chr2:202153225","m.1866C>A(E15)","非编码区","rs700635",0.75,0.68,0.65,0.71,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ALS2CR12",1,210,"非编码区",14200,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",130540,"2q33.1","NM_001127391.1"]
["12307A(99)v27489",9,4,0.44,"12307A","AMIGO2","chr12:47471037","m.2404A>C(E3)","非编码区","rs854889",0.9,0.78,0.77,0.78,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AMIGO2",1,130,"非编码区",14200,"0.42=5/12","位于基因组单拷贝区域+DNA结构正常",347902,"12q13.11","NM_001143668.1"]
["12307A(99)v1767",72,34,0.47,"12307A","AMPD3","chr11:10521764","c.1716T>C(E11)","p.572,Y>Y","rs3741041",0.37,0.71,0.78,0.63,0.65,0.67,"杂合","无关","有rs号，MAF>=5%",null,"腺苷单磷酸脱氨酶缺陷症3(红细胞)/红细胞AMP脱氨酶缺乏症",null,612874,5,2,1,1,"AMPD3",0.99,110,"同义",13203,"0.46=55/119","位于基因组单拷贝区域+DNA结构正常",272,"11p15","NM_000480.2"]
["12307A(99)v26686",24,24,1,"12307A","ANKLE1","chr19:17394504","c.931A>C(E5)","p.311,T>P","rs891017",0.64,0.3,0.29,0.31,0.35,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ANKLE1",0.94,28,"错义",12220,"1.00=42/42","位于基因组单拷贝区域+DNA结构正常",126549,"19p13.11","NM_152363.4"]
["12307A(99)v11694",54,54,1,"12307A","ANKMY2","chr7:16640358","m.1598T>C(E10)","非编码区","rs543387",0.83,0.85,0.85,0.84,null,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ANKMY2",1,250,"非编码区",14200,"1.00=78/78","位于基因组单拷贝区域+DNA结构正常",57037,"7p21","NM_020319.2"]
["12307A(99)v1214",12,12,1,"12307A","ANKRD26","chr10:27389197","c.59T>C(E1)","p.20,Q>R","rs7897309",0.94,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"血小板减少症2型","AD",188000,5,1,6,1,"ANKRD26",1,260,"错义",12220,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",22852,"10p12.1","NM_001256053.1"]
["12307A(99)v29586",75,31,0.41,"12307A","ANKRD31","chr5:74400516","c.4697G>C(E21)","p.1566,T>R","rs56174528",0.13,0.12,0.14,0.11,0.11,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ANKRD31",1,210,"错义",12210,"0.38=49/130","位于基因组单拷贝区域+DNA结构正常",256006,"5q13.3","NM_001164443.1"]
["12307A(99)v1518",3,3,1,"12307A","ANKRD40","chr17:48785165","m.106C>T(E1)","非编码区","rs8068442",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ANKRD40",1,150,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",91369,"17q21.33","NM_052855.3"]
["12307A(99)v28499",3,3,1,"12307A","ANKS6","chr9:101498564","m.2874C>G(E15)","非编码区","rs10760479",0.54,0.36,0.4,0.32,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肾消耗病16型","AR",615382,5,1,3,1,"ANKS6",0.89,81,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",203286,"9q22.33","NM_173551.3"]
["12307A(99)v16260",3,3,1,"12307A","ANXA3","chr4:79531553","m.1566C>A(E13)","非编码区","rs7317",0.75,0.93,0.92,0.94,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ANXA3",1,320,"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"]
["12307A(99)v23673",120,59,0.49,"12307A","AOAH","chr7:36656035","c.797G>C(E11)","p.266,A>G","rs3735386",0.069,0.038,0.033,0.044,0.049,0.038,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AOAH",0.94,200,"错义",12210,"0.48=102/213","位于基因组单拷贝区域+DNA结构正常",313,"7p14-p12","NM_001177506.1"]
["12307A(99)v16392",179,2,0.01,"12307A","AP3M2","chr8:42022980-42022980","c.705(E7):缺失T","缺失移码",{"$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",{"$nulls":4},1,null,1,0,"AP3M2",1,200,"缺失移码",2140,"0.01=2/204","位于基因组单拷贝区域+DNA结构正常",10947,"8p11.2","NM_001134296.1"]
["12307A(99)v27320",84,83,0.99,"12307A","APC","chr5:112177171","c.5880G>A(E16)","p.1960,P>P","rs465899",0.67,0.8,0.78,0.81,0.8,0.82,"纯合","无关","有rs号，MAF>=5%","15768050;16569251;17221838;20333795","胃癌",null,613659,5,1,7,5,"APC",0.98,190,"同义",13203,"0.98=119/121","位于基因组单拷贝区域+DNA结构正常",324,"5q21-q22","NM_000038.5"]
["12307A(99)v27323",257,257,1,"12307A","APC","chr5:112164561","c.1635G>A(E14)","p.545,A>A","rs351771",0.67,0.8,0.78,0.81,0.8,0.82,"纯合","无关","有rs号，MAF>=5%","16569251;18849522;20333795;24078348","胃癌",null,613659,5,1,7,5,"APC",0.98,190,"同义",13203,"1.00=504/505","位于基因组单拷贝区域+DNA结构正常",324,"5q21-q22","NM_000038.5"]
["12307A(99)v17790",65,65,1,"12307A","APOBEC3F","chr22:39448711","m.1426C>A(E7)","非编码区","rs6001402",0.51,0.7,0.69,0.71,null,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"APOBEC3F",1,210,"非编码区",14200,"1.00=114/114","位于基因组多拷贝区域+DNA结构正常",200316,"22q13.1","NM_145298.5"]
["12307A(99)v10594",185,185,1,"12307A","APOH","chr17:64208230","m.1118G>A(E8)","非编码区","rs6933",0.76,0.92,0.91,0.93,0.95,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"APOH",1,290,"非编码区",14200,"1.00=351/352","位于基因组单拷贝区域+DNA结构正常",350,"17q24.2","NM_000042.2"]
["12307A(99)v20997",59,59,1,"12307A","AQPEP","chr5:115339086","IVS12+9A>G","非编码区","rs6594929",0.81,0.78,0.81,0.74,null,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AQPEP",0.96,230,"非编码区",16203,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",206338,"5q23.1","NM_173800.4"]
["12307A(99)v20842",14,14,1,"12307A","AREGB","chr4:75482263","IVS2+9A>G","非编码区","rs201229958",{"$nulls":5},1,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"AREGB",0.95,290,"非编码区",16303,"1.00=20/20","位于基因组多拷贝区域+DNA结构正常",727738,"4q13.3","XM_001125684.4"]
["12307A(99)v28661",133,3,0.02,"12307A","ARHGAP28","chr18:6837354-6837354","c.7(E2):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,6,0,"ARHGAP28",1,310,"缺失移码",2140,"0.03=4/150","位于基因组单拷贝区域+简单重复结构",79822,"18p11.31","NM_001010000.2"]
["12307A(99)v9136",187,186,0.99,"12307A","ARHGAP42","chr11:100814570","c.1014A>G(E10)","p.338,R>R","rs543146",0.41,0.68,0.7,0.65,0.7,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ARHGAP42",1,250,"同义",13203,"0.99=361/366","位于基因组单拷贝区域+DNA结构正常",143872,"11q22.1","NM_152432.2"]
["12307A(99)v10616",59,22,0.37,"12307A","ARHGEF15","chr17:8224276","c.2491T>C(E16)","p.831,S>P","rs3744647",0.58,0.45,0.45,0.45,0.42,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ARHGEF15",0.99,51,"错义",12220,"0.34=38/111","位于基因组单拷贝区域+DNA结构正常",22899,"17p13.1","NM_025014.1"]
["12307A(99)v26282",55,30,0.55,"12307A","ARHGEF28","chr5:73076511","c.851C>A(E7)","p.284,P>Q","rs6453022",0.58,0.5,0.5,0.5,0.49,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ARHGEF28",0.91,180,"错义",12220,"0.53=46/87","位于基因组单拷贝区域+DNA结构正常",64283,"5q13.2","NM_001080479.2"]
["12307A(99)v27969",1,1,1,"12307A","ARHGEF7","chr13:111806245","m.185A>G(E1)","非编码区","rs61966721",0.45,0.7,0.71,0.7,0.54,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ARHGEF7",1,190,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",8874,"13q34","NM_003899.3"]
["12307A(99)v13547",30,21,0.7,"12307A","ARMC12","chr6:35705892","c.333T>C(E2)","p.111,Y>Y","rs2817041",0.76,0.55,0.51,0.59,0.54,0.61,"杂合","无关","有rs号，MAF>=5%",15637659,{"$nulls":3},5,null,1,0,"ARMC12",1,93,"同义",13203,"0.79=38/48","位于基因组单拷贝区域+DNA结构正常",221481,"6p21.31","NM_145028.3"]
["12307A(99)v5763",2,2,1,"12307A","ARRDC4","chr15:98514768-98514769","m.1767(E8)至m.1768(E8):插入TGTTT","非编码区","rs112573664",0.5,0.56,0.61,0.51,0,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"ARRDC4",0.89,210,"非编码区",2420,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",91947,"15q26.3","NM_183376.2"]
["12307A(99)v24880",94,94,1,"12307A","ASAP2","chr2:9491017","c.1104C>T(E12)","p.368,L>L","rs4669385",0.88,0.91,0.92,0.9,0.89,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ASAP2",0.99,160,"同义",13203,"1.00=157/157","位于基因组单拷贝区域+DNA结构正常",8853,"2p25|2p24","NM_001135191.1"]
["12307A(99)v15798",29,13,0.45,"12307A","ASB2","chr14:94417421","c.804G>A(E6)","p.268,N>N","rs7147919",0.56,0.81,0.81,0.81,0.74,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ASB2",0.79,45,"同义",13203,"0.39=17/44","位于基因组单拷贝区域+DNA结构正常",51676,"14q31-q32","NM_001202429.1"]
["12307A(99)v20993",292,2,0.01,"12307A","ASPH","chr8:62588724-62588726","c.522(E5)至c.520(E5):缺失TTC","缺失非移码",{"$nulls":5},0,0.00025,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"面部畸形，晶状体脱位，眼前节畸形和自发性滤过泡","AR",601552,3,3,3,1,"ASPH",0.97,270,"缺失非移码",2242,"0.01=2/344","位于基因组单拷贝区域+简单重复结构",444,"8q12.1","NM_001164756.1"]
["12307A(99)v14066",65,32,0.49,"12307A","ASPM","chr1:197070697","c.7684T>C(E18)","p.2562,S>G","rs41310927",0.21,0.18,0.15,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",20080800,"常染色体隐性原发性小头畸形5型","AR",608716,5,3,13,1,"ASPM",1,180,"错义",12210,"0.48=47/97","位于基因组单拷贝区域+DNA结构正常",259266,"1q31","NM_018136.4"]
["12307A(99)v1253",90,44,0.49,"12307A","ASTN2","chr9:119187839","m.1420C>T(E9)","非编码区","rs7518",0.2,0.18,0.2,0.16,0.18,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ASTN2",0.9,87,"非编码区",14200,"0.51=89/174","位于基因组单拷贝区域+DNA结构正常",23245,"9q33.1","NM_001184734.1"]
["12307A(99)v13385",19,11,0.58,"12307A","ATF5","chr19:50435998","c.498C>T(E3)","p.166,C>C","rs34877198",0.083,0.099,0.09,0.11,0.067,0.095,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ATF5",1,32,"同义",13203,"0.52=13/25","位于基因组单拷贝区域+DNA结构正常",22809,"19q13.3","NM_001193646.1"]
["12307A(99)v16892",22,21,0.95,"12307A","ATP10A","chr15:25961964","c.1689A>G(E9)","p.563,P>P","rs10873607",0.99,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ATP10A",0.98,82,"同义",13203,"0.97=33/34","位于基因组单拷贝区域+DNA结构正常",57194,"15q11.2","NM_024490.3"]
["12307A(99)v15673",57,57,1,"12307A","ATP10B","chr5:159992655","c.4191T>C(E26)","p.1397,V>V","rs3812005",0.36,0.19,0.17,0.21,0.18,0.15,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ATP10B",1,150,"同义",13203,"1.00=84/84","位于基因组单拷贝区域+DNA结构正常",23120,"5q34","NM_025153.2"]
["12307A(99)v30075",86,38,0.44,"12307A","ATP1A2","chr1:160098543","c.1119G>A(E9)","p.373,S>S","rs1063125",0.21,0.15,0.14,0.17,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",null,"家族性偏瘫性偏头痛2型","AD",602481,5,1,1,2,"ATP1A2",1,110,"同义",13203,"0.45=59/131","位于基因组多拷贝区域+DNA结构正常",477,"1q23.2","NM_000702.3"]
["12307A(99)v2145",111,111,1,"12307A","ATP2C2","chr16:84473137","IVS13+7G>C","非编码区","rs247904",0.86,0.97,0.97,0.97,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ATP2C2",1,130,"非编码区",16203,"1.00=209/210","位于基因组单拷贝区域+DNA结构正常",9914,"16q24.1","NM_014861.2"]
["12307A(99)v5259",25,25,1,"12307A","ATP5S","chr14:50789578","m.1194G>C(E3)","非编码区","rs8017316",0.55,0.56,0.56,0.56,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ATP5S",1,280,"非编码区",14200,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",27109,"14q21.3","NM_015684.3"]
["12307A(99)v1022",11,8,0.73,"12307A","ATP7B","chr13:52585591-52585592","m.40(E1)至m.39(E1):插入CGGCG","非编码区","rs148013251",0.37,0.52,0.53,0.5,0.21,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"肝豆状核变性","AR",277900,4,3,8,1,"ATP7B",1,120,"非编码区",2420,"0.75=9/12","位于基因组单拷贝区域+DNA结构正常",540,"13q14.3","NM_000053.3"]
["12307A(99)v9243",302,1,0,"12307A","ATP8B4","chr15:50254176-50254176","c.1285(E14):缺失G","缺失移码",{"$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",{"$nulls":4},1,null,5,0,"ATP8B4",1,300,"缺失移码",2140,"0.01=2/368","位于基因组单拷贝区域+DNA结构正常",79895,"15q21.2","NM_024837.2"]
["12307A(99)v28940",6,2,0.33,"12307A","AVPI1","chr10:99439541","c.122G>C(E2)","p.41,A>G","rs2275047",0.51,0.46,0.41,0.5,0.43,0.51,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,1,0,"AVPI1",1,45,"错义",12220,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",60370,"10q24.2","NM_021732.2"]
["12307A(99)v6433",5,5,1,"12307A","AXIN2","chr17:63533789","c.1365T>C(E6)","p.455,P>P","rs9915936",0.91,0.82,0.8,0.84,0.75,0.85,"纯合","无关","有rs号，MAF>=5%","21069480;25013500","结肠癌","AD",114500,5,1,5,2,"AXIN2",1,99,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",8313,"17q23-q24","NM_004655.3"]
["12307A(99)v10524",19,7,0.37,"12307A","B4GALNT3","chr12:665830","c.2178G>A(E15)","p.726,S>S","rs146749190",1.8E-3,0.012,0.0095,0.015,0.0092,0.006,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"B4GALNT3",1,65,"同义",13103,"0.32=10/31","位于基因组单拷贝区域+DNA结构正常",283358,"12p13.33","NM_173593.3"]
["12307A(99)v25297",32,16,0.5,"12307A","BAG3","chr10:121436362","c.1296A>G(E4)","p.432,V>V","rs196295",0.71,0.5,0.48,0.52,0.51,0.52,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1HH型","AD",613881,5,1,1,2,"BAG3",1,61,"同义",13203,"0.54=28/52","位于基因组单拷贝区域+DNA结构正常",9531,"10q25.2-q26.2","NM_004281.3"]
["12307A(99)v5248",260,93,0.36,"12307A","BAGE2","chr21:11029679","m.1515C>G(E7)","非编码区","rs10446163",0.5,0.5,0.5,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,30,0,"BAGE2",1,680,"非编码区",14200,"0.34=158/464","位于基因组多拷贝区域+DNA结构正常",85319,"21p","NM_182482.2"]
["12307A(99)v59",98,98,1,"12307A","BBOX1","chr11:27077118","c.141C>T(E3)","p.47,S>S","rs10767598",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"BBOX1",1,270,"同义",13203,"1.00=174/174","位于基因组单拷贝区域+DNA结构正常",8424,"11p14.2","NM_003986.2"]
["12307A(99)v18196",77,36,0.47,"12307A","BBS9","chr7:33644948","m.3182C>T(E22)","非编码区","rs1050721",0.61,0.65,0.67,0.64,null,null,"杂合","无关","有rs号，MAF>=5%",null,"Bardet-biedl综合征9型","AR",615986,5,3,2,1,"BBS9",1,260,"非编码区",14200,"0.45=55/123","位于基因组单拷贝区域+DNA结构正常",27241,"7p14","NM_001033604.1"]
["12307A(99)v24857",49,49,1,"12307A","BCL2L15","chr1:114424601","c.268C>T(E3)","p.90,D>N","rs1217381",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"BCL2L15",1,290,"错义",12220,"1.00=74/74","位于基因组单拷贝区域+DNA结构正常",440603,"1p13.2","NM_001010922.2"]
["12307A(99)v22363",10,10,1,"12307A","BCORL1","chrX:129147079","c.331T>C(E3)","p.111,F>L","rs4830173",null,1,1,1,0.9,1,"纯合","未知","未知",{"$nulls":4},3,null,1,0,"BCORL1",1,81,"错义",12330,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",63035,"Xq25-q26.1","NM_021946.4"]
["12307A(99)v28931",42,18,0.43,"12307A","BEST1","chr11:61719387","c.109T>C(E2)","p.37,L>L","rs1800007",0.68,0.91,0.9,0.93,0.9,0.91,"杂合","无关","有rs号，MAF>=5%",null,"斑萎蛋白病变",null,611809,5,2,3,4,"BEST1",0.92,110,"同义",13203,"0.38=24/63","位于基因组单拷贝区域+DNA结构正常",7439,"11q13","NM_004183.3"]
["12307A(99)v30614",72,36,0.5,"12307A","BICC1","chr10:60573753","IVS18+7G>T","非编码区","rs9416746",0.75,0.78,0.78,0.79,0.71,0.76,"杂合","无关","有rs号，MAF>=5%",null,"囊肿性肾发育不良易感","AD",601331,5,1,3,1,"BICC1",1,230,"非编码区",16203,"0.47=54/114","位于基因组单拷贝区域+DNA结构正常",80114,"10q21.1","NM_001080512.1"]
["12307A(99)v3726",90,44,0.49,"12307A","BMP2K","chr4:79800080","c.1986G>A(E14)","p.662,Q>Q","rs10518205",0.11,0.23,0.2,0.25,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"BMP2K",0.95,200,"同义",13203,"0.47=67/143","位于基因组单拷贝区域+DNA结构正常",55589,"4q21.21","NM_017593.3"]
["12307A(99)v28391",5,5,1,"12307A","BNIP2","chr15:59981590","c.50G>A(E1)","p.17,P>L","rs754641",0.41,0.59,0.56,0.61,0.43,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"BNIP2",0.94,230,"错义",12220,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",663,"15q22.2","NM_004330.2"]
["12307A(99)v19670",6,6,1,"12307A","BPI","chr20:36932676","c.63G>C(E1)","p.21,L>L","rs1341024",0.43,0.53,0.52,0.53,0.41,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"BPI",1,130,"同义",13203,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",671,"20q11.23","NM_001725.2"]
["12307A(99)v18182",92,50,0.54,"12307A","BRCA2","chr13:32906729","c.1114A>C(E10)","p.372,N>H","rs144848",0.25,0.26,0.27,0.25,0.24,0.27,"杂合","无关","有疾病相关报道，MAF>=5%","12466288;15113441;16857995;17428325;18086758;18431743;18547414;18579371;19138047;19276285;19500380;19644020;19902366;20003265;22430443;25178586;","髓母细胞瘤","AD",155255,5,1,7,8,"BRCA2",1,190,"错义",11200,"0.55=78/143","位于基因组单拷贝区域+DNA结构正常",675,"13q12.3","NM_000059.3"]
["12307A(99)v30172",11,11,1,"12307A","BRIP1","chr17:59760499","m.4214A>G(E20)","非编码区","rs1978111",0.62,0.76,0.79,0.73,null,null,"纯合","无关","有rs号，MAF>=5%",null,"乳腺癌，浸润性导管","AD",114480,5,1,4,2,"BRIP1",1,270,"非编码区",14200,"1.00=12/12","位于基因组多拷贝区域+DNA结构正常",83990,"17q22.2","NM_032043.2"]
["12307A(99)v8331",18,1,0.06,"12307A","BSN","chr3:49692992","c.6003C>T(E5)","p.2001,I>I",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"BSN",0.97,23,"同义",13403,"0.12=4/33","位于基因组单拷贝区域+DNA结构正常",8927,"3p21.31","NM_003458.3"]
["12307A(99)v5015",72,35,0.49,"12307A","BTBD16","chr10:124036328","c.41G>A(E3)","p.14,R>Q","rs11200524",0.086,0.2,0.22,0.18,0.14,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"BTBD16",1,180,"错义",12220,"0.46=57/123","位于基因组单拷贝区域+DNA结构正常",118663,"10q26.13","NM_144587.2"]
["12307A(99)v19409",1,1,1,"12307A","C10orf105","chr10:73473455","m.2840C>A(E2)","非编码区","rs41307565",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"C10orf105",1,29,"非编码区",14300,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",414152,"10q22.1","NM_001164375.2"]
["12307A(99)v26290",49,23,0.47,"12307A","C10orf2","chr10:102748459","c.492C>T(E1)","p.164,L>L",{"$nulls":5},0.0016,2.3E-3,"杂合","未知","预测范围之外的同义突变",null,"线粒体DNA缺失综合征7型（肝脑型）/婴儿期发作的脊髓小脑性共济失调","AR",271245,4,3,4,3,"C10orf2",1,88,"同义",13403,"0.49=38/77","位于基因组单拷贝区域+DNA结构正常",56652,"10q24","NM_001163812.1"]
["12307A(99)v27680",24,10,0.42,"12307A","C11orf42","chr11:6231731","c.724C>T(E2)","p.242,P>S","rs10769671",0.62,0.81,0.87,0.74,0.74,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C11orf42",1,56,"错义",12220,"0.34=13/38","位于基因组单拷贝区域+DNA结构正常",160298,"11p15.4","NM_173525.2"]
["12307A(99)v4207",14,14,1,"12307A","C11orf75","chr11:93212161","m.453A>G(E3)","非编码区","rs2605594",0.78,1,0.99,1,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C11orf75",1,71,"非编码区",14200,"1.00=18/18","位于基因组多拷贝区域+DNA结构正常",56935,"11q21","NM_020179.2"]
["12307A(99)v29220",3,1,0.33,"12307A","C12orf68","chr12:48578442","c.537C>T(E1)","p.179,D>D","rs73304926",0.17,0.14,0.13,0.14,0.13,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C12orf68",0.95,9.1,"同义",13203,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",387856,"12q13.11","NM_001013635.3"]
["12307A(99)v16816",58,26,0.45,"12307A","C14orf166B","chr14:77336521","m.1610G>A(E14)","非编码区","rs76880359",0.095,0.3,0.34,0.26,0.31,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C14orf166B",1,170,"非编码区",14200,"0.45=46/102","位于基因组单拷贝区域+DNA结构正常",145497,"14q24.3","NM_194287.2"]
["12307A(99)v14672",63,63,1,"12307A","C16orf46","chr16:81094760","m.1453A>G(E4)","非编码区","rs804884",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C16orf46",1,100,"非编码区",14200,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",123775,"16q23.2","NM_152337.2"]
["12307A(99)v15723",96,96,1,"12307A","C17orf47","chr17:56621359","c.189T>C(E1)","p.63,S>S","rs6503867",0.91,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"C17orf47",1,140,"同义",13203,"1.00=161/161","位于基因组单拷贝区域+DNA结构正常",284083,"17q22","NM_001038704.2"]
["12307A(99)v20006",7,1,0.14,"12307A","C17orf70","chr17:79517883","c.637C>A(E3)","p.213,G>W","rs140376825",{"$nulls":6},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"C17orf70",0.84,10,"错义",12320,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",80233,"17q25.3","NM_025161.5"]
["12307A(99)v14247",5,5,1,"12307A","C19orf71","chr19:3543397","c.248C>T(E2)","p.83,P>L","rs12608919",0.37,0.83,0.77,0.88,0.69,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C19orf71",1,15,"错义",12220,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",100128569,"19p13.3","NM_001135580.1"]
["12307A(99)v28412",16,16,1,"12307A","C1orf111","chr1:162344390","c.234A>G(E3)","p.78,D>D","rs164159",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C1orf111",1,63,"同义",13203,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",284680,"1q23.3","NM_182581.3"]
["12307A(99)v15756",53,33,0.62,"12307A","C1orf68","chr1:152692472","c.475A>C(E1)","p.159,T>P","rs873775",0.35,0.2,0.22,0.17,0.17,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C1orf68",1,150,"错义",12220,"0.65=47/72","位于基因组单拷贝区域+DNA结构正常",100129271,"1q21.3","NM_001024679.2"]
["12307A(99)v10472",34,17,0.5,"12307A","C1QL2","chr2:119915249","c.597T>C(E1)","p.199,V>V","rs7556873",0.59,0.35,0.32,0.38,0.37,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C1QL2",0.68,29,"同义",13203,"0.52=29/56","位于基因组多拷贝区域+DNA结构正常",165257,"2q14.2","NM_182528.3"]
["12307A(99)v19599",118,48,0.41,"12307A","C20orf132","chr20:35769592","c.1462T>C(E11)","p.488,K>E","rs1744769",0.77,0.46,0.48,0.45,0.47,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"C20orf132",0.92,180,"错义",12230,"0.42=77/185","位于基因组单拷贝区域+DNA结构正常",140699,"20q11.22","NM_152503.4"]
["12307A(99)v5070",10,7,0.7,"12307A","C22orf42","chr22:32554985","c.218A>G(E1)","p.73,L>P","rs5998267",0.58,0.43,0.44,0.42,0.35,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C22orf42",1,180,"错义",12220,"0.72=13/18","位于基因组单拷贝区域+DNA结构正常",150297,"22q12.3","NM_001010859.1"]
["12307A(99)v11887",2,2,1,"12307A","C2orf40","chr2:106682226","c.6T>C(E1)","p.2,A>A","rs4271786",0.25,0.25,0.22,0.27,0.14,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C2orf40",1,170,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",84417,"2q12.2","NM_032411.2"]
["12307A(99)v8508",39,39,1,"12307A","C3","chr19:6697406","c.2745A>G(E21)","p.915,A>A","rs423490",0.81,0.92,0.91,0.94,0.92,0.91,"纯合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性9型",null,611378,5,1,15,3,"C3",1,77,"同义",13203,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",718,"19p13.3-p13.2","NM_000064.2"]
["12307A(99)v10976",22,22,1,"12307A","C3orf45","chr3:50324672","m.561T>G(E4)","非编码区","rs12629572",0.3,0.71,0.73,0.68,null,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C3orf45",1,27,"非编码区",14200,"1.00=33/33","位于基因组单拷贝区域+DNA结构正常",132228,"3p21.31","NM_153215.1"]
["12307A(99)v21609",75,75,1,"12307A","C4orf33","chr4:130023759","m.86A>T(E2)","非编码区","rs1757935",0.68,0.79,0.77,0.82,null,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C4orf33",1,280,"非编码区",14200,"1.00=116/116","位于基因组单拷贝区域+DNA结构正常",132321,"4q28.2","NM_001099783.1"]
["12307A(99)v1209",259,111,0.43,"12307A","C5","chr9:123769200","c.2404C>T(E19)","p.802,V>I","rs17611",0.4,0.57,0.52,0.61,0.56,0.55,"杂合","无关","有rs号，MAF>=5%","15371359;15726497;17428459;17705862;18644651;18648537;19028820;19131662;19263529;19330901;19559392;19619703;19909405;20018035;21393613;21871809;22452399;23662819","Eculizumab药物反应差","AD",615749,5,1,4,2,"C5",1,290,"错义",12220,"0.40=197/487","位于基因组单拷贝区域+DNA结构正常",727,"9q33-q34","NM_001735.2"]
["12307A(99)v17795",193,193,1,"12307A","C6orf170","chr6:121620608","c.1124G>T(E10)","p.375,T>K","rs9387944",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C6orf170",1,330,"错义",12220,"0.99=373/375","位于基因组单拷贝区域+DNA结构正常",221322,"6q22.31","NM_152730.4"]
["12307A(99)v7082",158,62,0.39,"12307A","C7orf31","chr7:25207963","c.256G>A(E3)","p.86,R>C","rs3213642",0.061,0.15,0.14,0.17,0.18,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C7orf31",1,220,"错义",12220,"0.42=124/296","位于基因组单拷贝区域+DNA结构正常",136895,"7p15.3","NM_138811.3"]
["12307A(99)v22369",51,51,1,"12307A","C8B","chr1:57422484","c.349C>T(E3)","p.117,G>R","rs1013579",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"补体成分8缺乏症2型","AR",613789,5,1,2,1,"C8B",1,200,"错义",12220,"1.00=83/83","位于基因组单拷贝区域+DNA结构正常",732,"1p32","NM_000066.2"]
["12307A(99)v621",21,1,0.05,"12307A","C9orf16","chr9:130925871","c.229G>A(E2)","p.77,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"C9orf16",0.69,40,"错义",12420,"0.12=4/34","位于基因组单拷贝区域+DNA结构正常",79095,"9q34.1","NM_024112.3"]
["12307A(99)v17246",29,27,0.93,"12307A","CA9","chr9:35674053","c.97G>A(E1)","p.33,V>M","rs2071676",0.32,0.48,0.47,0.5,0.48,0.5,"纯合","无关","有rs号，MAF>=5%",19539328,{"$nulls":3},5,null,1,0,"CA9",0.9,74,"错义",12220,"0.95=40/42","位于基因组单拷贝区域+DNA结构正常",768,"9p13.3","NM_001216.2"]
["12307A(99)v160",139,139,1,"12307A","CABS1","chr4:71201388","c.632C>T(E1)","p.211,T>I","rs1351419",0.92,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CABS1",1,170,"错义",12220,"1.00=248/248","位于基因组单拷贝区域+DNA结构正常",85438,"4q13.3","NM_033122.3"]
["12307A(99)v2010",63,63,1,"12307A","CACNA1C","chr12:2791130","c.5459C>T(E43)","p.1820,P>L","rs10848683",0.67,0.62,0.64,0.61,0.62,0.59,"纯合","无关","有rs号，MAF>=5%",20031608,"先天性长Q-T间期综合征8型/蒂莫西综合症","AD",601005,5,1,5,2,"CACNA1C",1,110,"错义",12220,"1.00=121/121","位于基因组单拷贝区域+DNA结构正常",775,"12p13.3","NM_001129830.1"]
["12307A(99)v6719",16,6,0.38,"12307A","CACNA1S","chr1:201022376","c.3822G>A(E31)","p.1274,I>I","rs56183942",0.053,0.24,0.23,0.24,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",null,"甲状腺毒性周期性麻痹症",null,188580,5,2,8,3,"CACNA1S",1,92,"同义",13203,"0.40=8/20","位于基因组单拷贝区域+DNA结构正常",779,"1q32","NM_000069.2"]
["12307A(99)v30357",94,94,1,"12307A","CAD","chr2:27440785","c.123C>T(E2)","p.41,T>T","rs1275536",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CAD",1,88,"同义",13203,"1.00=164/164","位于基因组单拷贝区域+DNA结构正常",790,"2p22-p21","NM_004341.3"]
["12307A(99)v23373",2,2,1,"12307A","CAMKK2","chr12:121712077","c.253T>A(E2)","p.85,T>S","rs3817190",0.41,0.31,0.3,0.32,0.23,0.29,"纯合","无关","有rs号，MAF>=5%",17197037,{"$nulls":3},5,null,4,0,"CAMKK2",0.85,64,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",10645,"12q24.2","NM_001270485.1"]
["12307A(99)v15176",5,5,1,"12307A","CAPN10","chr2:241538229","m.2347A>G(E12)","非编码区","rs2975767",0.73,0.79,0.79,0.79,null,null,"纯合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病1型",null,601283,5,1,5,1,"CAPN10",0.93,27,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",11132,"2q37.3","NM_023083.3"]
["12307A(99)v6191",198,107,0.54,"12307A","CAPZA1","chr1:113197203","c.336A>G(E5)","p.112,E>E","rs3790599",0.07,0.077,0.076,0.078,0.062,0.069,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CAPZA1",1,280,"同义",13203,"0.55=208/381","位于基因组多拷贝区域+DNA结构正常",829,"1p13.2","NM_006135.2"]
["12307A(99)v9126",14,7,0.5,"12307A","CARD14","chr17:78166385","c.1323C>T(E9)","p.441,D>D","rs11658460",0.12,0.14,0.12,0.16,0.12,0.14,"杂合","无关","有rs号，MAF>=5%",null,"毛发红糠疹","AD",173200,5,1,7,2,"CARD14",0.95,37,"同义",13203,"0.52=14/27","位于基因组单拷贝区域+DNA结构正常",79092,"17q25","NM_001257970.1"]
["12307A(99)v8249",3,1,0.33,"12307A","CASP6","chr4:110624578","m.52T>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,"CASP6",1,270,"非编码区",14400,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",839,"4q25","NM_001226.3"]
["12307A(99)v2920",14,14,1,"12307A","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",1,84,"同义",13203,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",846,"3q13","NM_000388.3"]
["12307A(99)v17830",3,3,1,"12307A","CBLN2","chr18:70209177","c.219C>T(E3)","p.73,S>S","rs17853471",0.11,0.49,0.54,0.44,0.34,0.51,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CBLN2",0.94,94,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",147381,"18q22.3","NM_182511.3"]
["12307A(99)v23488",81,80,0.99,"12307A","CBX5","chr12:54651471","m.84A>G(E2)","非编码区","rs1140681",0.58,0.54,0.49,0.59,null,0.51,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CBX5",1,210,"非编码区",14200,"0.99=119/120","位于基因组单拷贝区域+DNA结构正常",23468,"12q13.13","NM_001127321.1"]
["12307A(99)v10083",113,113,1,"12307A","CCDC102B","chr18:66504459","c.459A>T(E4)","p.153,K>N","rs572020",0.92,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CCDC102B",1,240,"错义",12230,"1.00=195/195","位于基因组单拷贝区域+DNA结构正常",79839,"18q22.1","NM_001093729.1"]
["12307A(99)v12068",97,97,1,"12307A","CCDC13","chr3:42787469","c.771A>G(E7)","p.257,S>S","rs2240859",0.5,0.48,0.5,0.46,0.43,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCDC13",1,92,"同义",13203,"1.00=180/180","位于基因组单拷贝区域+DNA结构正常",152206,"3p22.1","NM_144719.3"]
["12307A(99)v23038",5,2,0.4,"12307A","CCDC15","chr11:124910797","m.3305T>C(E16)","非编码区","rs11219874",0.19,0.42,0.47,0.37,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC15",1,280,"非编码区",14200,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",80071,"11q24.2","NM_025004.2"]
["12307A(99)v18669",41,41,1,"12307A","CCDC17","chr1:46085879","m.2087C>G(E13)","非编码区","rs2275086",0.69,0.67,0.68,0.65,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CCDC17",0.92,48,"非编码区",14200,"1.00=63/63","位于基因组单拷贝区域+DNA结构正常",149483,"1p34.1","NM_001114938.2"]
["12307A(99)v29870",53,24,0.45,"12307A","CCDC19","chr1:159858290","IVS3-4T>A","剪切位点","rs3795334",0.14,0.087,0.071,0.1,null,0.072,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC19",1,120,"剪切位点",16202,"0.46=43/93","位于基因组单拷贝区域+DNA结构正常",25790,"1q22","NM_012337.2"]
["12307A(99)v17941",5,2,0.4,"12307A","CCDC64B","chr16:3085375","c.123G>A(E1)","p.41,G>G","rs11077096",0.29,0.18,0.19,0.17,0.11,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC64B",0.81,11,"同义",13203,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",146439,"16p13.3","NM_001103175.1"]
["12307A(99)v4907",30,30,1,"12307A","CCDC81","chr11:86133784","m.2414C>T(E15)","非编码区","rs1056194",0.8,0.75,0.81,0.69,null,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCDC81",1,250,"非编码区",14200,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",60494,"11q14.2","NM_001156474.1"]
["12307A(99)v29656",55,26,0.47,"12307A","CCDC93","chr2:118677842-118677842","m.2141(E24):缺失A","非编码区","rs3832171",0.1,0.13,0.11,0.16,0.016,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"CCDC93",1,240,"非编码区",2420,"0.43=29/67","位于基因组单拷贝区域+DNA结构正常",54520,"2q14.1","NM_019044.4"]
["12307A(99)v7407",43,26,0.6,"12307A","CCL15","chr17:34328542","m.543G>A(E1)","非编码区","rs2293788",0.13,0.062,0.071,0.053,0.061,0.068,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCL15",1,160,"非编码区",14200,"0.55=42/77","位于基因组多拷贝区域+DNA结构正常",6359,"17q11.2","NM_032965.4"]
["12307A(99)v26331",231,3,0.01,"12307A","CCPG1","chr15:55651780-55651781","c.2191(E8)至c.2190(E8):缺失TA","缺失移码",{"$nulls":5},0,0.00082,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,1,0,"CCPG1",0.92,180,"缺失移码",2140,"0.01=3/260","位于基因组单拷贝区域+简单重复结构",9236,"15q21.1","NM_001204450.1"]
["12307A(99)v17910",281,130,0.46,"12307A","CD109","chr6:74466377","c.645C>T(E6)","p.215,Y>Y","rs6453696",0.67,0.84,0.82,0.85,0.84,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CD109",0.99,300,"同义",13203,"0.46=264/572","位于基因组单拷贝区域+DNA结构正常",135228,"6q13","NM_001159587.1"]
["12307A(99)v16986",28,28,1,"12307A","CD151","chr11:837582","c.579G>A(E6)","p.193,G>G","rs1130663",0.64,0.88,0.9,0.86,0.76,0.86,"纯合","无关","有rs号，MAF>=5%",20403199,"肾病伴前胫表皮松解大疱性和耳聋",null,609057,5,1,1,2,"CD151",1,37,"同义",13203,"0.98=52/53","位于基因组单拷贝区域+DNA结构正常",977,"11p15.5","NM_001039490.1"]
["12307A(99)v11117",6,5,0.83,"12307A","CD209","chr19:7806230-7806230","m.2569(E5):缺失C","非编码区","rs397897390",0.75,0.63,0.67,0.59,0.085,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"结核分枝杆菌易感",null,607948,4,2,8,3,"CD209",1,120,"非编码区",2420,"0.88=7/8","位于基因组单拷贝区域+DNA结构正常",30835,"19p13","NM_001144893.1"]
["12307A(99)v2164",2,1,0.5,"12307A","CD276","chr15:73994806","c.290C>T(E3)","p.97,P>L","rs7173448",0.2,0.12,0.12,0.12,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"CD276",1,24,"错义",12220,"0.67=2/3","位于基因组多拷贝区域+DNA结构正常",80381,"15q23-q24","NM_001024736.1"]
["12307A(99)v22939",18,16,0.89,"12307A","CD3G","chr11:118215076-118215079","m.18(E1)至m.21(E1):缺失GGCT","非编码区","rs150376137",0.4,0.56,0.59,0.53,0.23,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"免疫缺陷17型","AR",615607,4,3,3,1,"CD3G",1,230,"非编码区",2420,"0.84=16/19","位于基因组单拷贝区域+简单重复结构",917,"11q23","NM_000073.2"]
["12307A(99)v25399",40,18,0.45,"12307A","CD79B","chr17:62007498","c.366A>G(E3)","p.122,C>C","rs2070776",0.56,0.45,0.45,0.45,0.37,0.46,"杂合","无关","有rs号，MAF>=5%",20881960,"无丙种球蛋白血症6型","AR",612692,5,3,2,1,"CD79B",1,48,"同义",13203,"0.47=25/53","位于基因组单拷贝区域+DNA结构正常",974,"17q23","NM_000626.2"]
["12307A(99)v25885",296,20,0.07,"12307A","CDC27","chr17:45234449","c.672G>A(E7)","p.224,Y>Y","rs112216339",{"$nulls":4},0.36,0.41,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"CDC27",1,390,"同义",13303,"0.06=32/544","位于基因组多拷贝区域+DNA结构正常",996,"17q21.32","NM_001114091.1"]
["12307A(99)v16573",40,40,1,"12307A","CDC42BPA","chr1:227182033","c.5096G>A(E36)","p.1699,A>V","rs2802269",0.88,0.88,0.89,0.88,0.87,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"CDC42BPA",1,300,"错义",12220,"0.99=80/81","位于基因组单拷贝区域+DNA结构正常",8476,"1q42.11","NM_003607.3"]
["12307A(99)v30316",90,90,1,"12307A","CDH1","chr16:68857441","c.2076T>C(E13)","p.692,A>A","rs1801552",0.72,0.65,0.62,0.68,0.64,0.64,"纯合","无关","有rs号，MAF>=5%","22535324;24838934","卵巢癌","AD",167000,5,1,3,5,"CDH1",0.98,160,"同义",13203,"1.00=162/162","位于基因组单拷贝区域+DNA结构正常",999,"16q22.1","NM_004360.3"]
["12307A(99)v4932",101,101,1,"12307A","CDH17","chr8:95143186","c.2202C>G(E16)","p.734,E>D","rs1051623",0.78,0.69,0.68,0.69,0.69,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CDH17",1,250,"错义",12220,"0.99=184/185","位于基因组单拷贝区域+DNA结构正常",1015,"8q22.1","NM_001144663.1"]
["12307A(99)v14924",88,45,0.51,"12307A","CDH23","chr10:73558886","c.353G>A(E4)","p.118,R>Q","rs4747194",0.34,0.5,0.49,0.51,0.44,0.52,"杂合","无关","有rs号，MAF>=5%","16385451;24767429","常染色体隐性遗传耳聋12型","AR",601386,5,3,22,2,"CDH23",0.99,66,"错义",12220,"0.51=80/158","位于基因组单拷贝区域+DNA结构正常",64072,"10q22.1","NM_001171933.1"]
["12307A(99)v23752",6,3,0.5,"12307A","CDH5","chr16:66437131","m.2570A>T(E12)","非编码区","rs1063438",0.7,0.85,0.84,0.85,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDH5",1,100,"非编码区",14200,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",1003,"16q22.1","NM_001795.3"]
["12307A(99)v24865",35,35,1,"12307A","CDHR1","chr10:85960395","c.477A>G(E6)","p.159,A>A","rs4933975",0.52,0.38,0.39,0.36,0.34,0.39,"纯合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良15型","AR",613660,5,1,6,1,"CDHR1",0.91,110,"同义",13203,"1.00=61/61","位于基因组单拷贝区域+DNA结构正常",92211,"10q23.1","NM_001171971.1"]
["12307A(99)v28199",4,2,0.5,"12307A","CDKN1B","chr12:12870695","m.394T>C(E1)","非编码区","rs34330",0.66,0.52,0.52,0.51,0.45,null,"杂合","无关","有rs号，MAF>=5%",null,"多发性内分泌肿瘤4型","AD",610755,5,1,1,1,"CDKN1B",1,110,"非编码区",14200,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",1027,"12p13.1-p12","NM_004064.3"]
["12307A(99)v10219",25,25,1,"12307A","CDRT1","chr17:15492110","m.2630C>T(E12)","非编码区","rs151443",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDRT1",1,310,"非编码区",14200,"1.00=33/33","位于基因组多拷贝区域+DNA结构正常",374286,"17p12","NM_006382.3"]
["12307A(99)v26311",68,39,0.57,"12307A","CEACAM21","chr19:42083849","c.362C>A(E2)","p.121,T>N","rs714106",0.52,0.6,0.63,0.56,0.55,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CEACAM21",1,120,"错义",12230,"0.59=71/120","位于基因组多拷贝区域+DNA结构正常",90273,"19q13.2","NM_001098506.1"]
["12307A(99)v23882",12,12,1,"12307A","CEACAM3","chr19:42315406","m.966A>G(E7)","非编码区","rs2008798",0.52,0.59,0.58,0.6,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CEACAM3",1,230,"非编码区",14200,"1.00=14/14","位于基因组多拷贝区域+DNA结构正常",1084,"19q13.2","NM_001815.2"]
["12307A(99)v1106",11,1,0.09,"12307A","CELSR3","chr3:48694659","c.3871G>T(E2)","p.1291,L>M",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"CELSR3",0.99,33,"错义",12420,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",1951,"3p21.31","NM_001407.2"]
["12307A(99)v1085",38,38,1,"12307A","CENPJ","chr13:25466774","IVS10+7T>C","非编码区","rs9318917",0.74,0.88,0.88,0.87,0.87,0.85,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性原发性小头畸形6型","AR",608393,5,1,4,2,"CENPJ",1,220,"非编码区",16203,"1.00=55/55","位于基因组单拷贝区域+DNA结构正常",55835,"13q12.12","NM_018451.4"]
["12307A(99)v18866",105,44,0.42,"12307A","CEP192","chr18:13001512","c.221G>C(E3)","p.74,G>A","rs4499304",0.43,0.35,0.32,0.39,0.37,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"CEP192",1,230,"错义",12220,"0.46=92/200","位于基因组单拷贝区域+DNA结构正常",55125,"18p11.21","NM_032142.3"]
["12307A(99)v2273",112,112,1,"12307A","CEP63","chr3:134280395","m.1851T>A(E12)","非编码区","rs6777283",1,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"Seckel综合征6",null,614728,5,1,3,1,"CEP63",0.96,270,"非编码区",14200,"1.00=185/185","位于基因组单拷贝区域+DNA结构正常",80254,"3q22.2","NM_001042383.1"]
["12307A(99)v29507",51,19,0.37,"12307A","CEP89","chr19:33370084","c.2336T>A(E19)","p.779,H>L","rs745960",0.16,0.096,0.095,0.097,0.08,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CEP89",1,210,"错义",12220,"0.38=26/69","位于基因组单拷贝区域+DNA结构正常",84902,"19q13.11","NM_032816.3"]
["12307A(99)v28386",91,91,1,"12307A","CFH","chr1:196709774","c.2808G>T(E18)","p.936,E>D","rs1065489",0.2,0.52,0.5,0.54,0.47,0.5,"纯合","无关","有rs号，MAF>=5%","17022693;18483746;19162324;19187823;19861685;19958499;20694013;23423485;23966370;24365176;24692129","补体因子H缺乏症","AD,AR",609814,5,1,6,4,"CFH",1,360,"错义",12220,"1.00=149/149","位于基因组单拷贝区域+DNA结构正常",3075,"1q32","NM_000186.3"]
["12307A(99)v15297",152,152,1,"12307A","CFHR3","chr1:196757392","c.477C>T(E4)","p.159,S>S","rs400344",0.65,0.94,0.96,0.93,0.88,0.94,"纯合","无关","有rs号，MAF>=5%",null,"非典型溶血性尿毒症综合征，易感1型","AD,AR",235400,5,1,4,2,"CFHR3",1,310,"同义",13203,"1.00=243/243","位于基因组多拷贝区域+DNA结构正常",10878,"1q32","NM_021023.5"]
["12307A(99)v21199",4,4,1,"12307A","CGGBP1","chr3:88190493-88190494","UTR:插入C","非编码区","rs5850831",0.78,0.82,0.84,0.81,0.042,null,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,1,0,"CGGBP1",1,130,"非编码区",2600,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",8545,"3p12-p11.1","NM_001008390.1"]
["12307A(99)v29705",1,1,1,"12307A","CHAC1","chr15:41245676","c.21G>A(E1)","p.7,E>E","rs11557249",0.24,0.25,0.27,0.24,0.21,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CHAC1",1,21,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",79094,"15q15.1","NM_001142776.1"]
["12307A(99)v587",65,31,0.48,"12307A","CHFR","chr12:133418069","m.2150C>T(E18)","非编码区","rs1045979",0.15,0.2,0.22,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CHFR",0.89,82,"非编码区",14200,"0.47=50/106","位于基因组单拷贝区域+DNA结构正常",55743,"12q24.33","NM_001161344.1"]
["12307A(99)v24642",22,22,1,"12307A","CHI3L1","chr1:203148633","c.1092A>G(E10)","p.364,C>C","rs4950927",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"哮喘相关症状易感7型",null,611960,5,1,3,2,"CHI3L1",1,100,"同义",13203,"1.00=35/35","位于基因组单拷贝区域+DNA结构正常",1116,"1q32.1","NM_001276.2"]
["12307A(99)v860",91,91,1,"12307A","CHMP7","chr8:23118162","m.2060G>C(E11)","非编码区","rs2294124",0.11,0.28,0.3,0.26,null,0.29,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CHMP7",0.95,81,"非编码区",14200,"0.99=160/161","位于基因组单拷贝区域+DNA结构正常",91782,"8p21.3","NM_152272.3"]
["12307A(99)v30338",34,19,0.56,"12307A","CHRNA4","chr20:61990939","c.189G>A(E2)","p.63,L>L","rs2273506",0.11,0.13,0.12,0.15,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"夜发性额叶癫痫1型","AD",600513,5,1,5,2,"CHRNA4",0.94,35,"同义",13203,"0.51=25/49","位于基因组单拷贝区域+DNA结构正常",1137,"20q13.2-q13.3","NM_000744.6"]
["12307A(99)v16713",1,1,1,"12307A","CIITA","chr16:11018622","m.4436T>C(E20)","非编码区","rs1139564",0.69,0.77,0.77,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",null,"裸淋巴细胞综合征2型","AR",209920,5,1,7,2,"CIITA",0.98,54,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",4261,"16p13","NM_000246.3"]
["12307A(99)v7224",73,39,0.53,"12307A","CIT","chr12:120271898","c.651G>A(E6)","p.217,Y>Y","rs55876660",0.0006,0.0048,0.0048,0.0049,0.0046,0.005,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"CIT",0.97,150,"同义",13103,"0.53=70/132","位于基因组单拷贝区域+DNA结构正常",11113,"12q24","NM_001206999.1"]
["12307A(99)v2156",223,102,0.46,"12307A","CKMT1B","chr15:43891426","c.1209C>G(E10)","p.403,G>G","rs144820945",0.076,0.16,0.12,0.19,0.13,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CKMT1B",1,300,"同义",13203,"0.46=183/396","位于基因组多拷贝区域+DNA结构正常",1159,"15q15","NM_020990.3"]
["12307A(99)v1760",46,45,0.98,"12307A","CLCNKB","chr1:16373124","c.324A>G(E4)","p.108,S>S","rs5257",0.74,0.99,1,0.99,0.96,0.99,"纯合","无关","有rs号，MAF>=5%",null,"巴特综合征IV型B",null,613090,5,1,14,2,"CLCNKB",1,71,"同义",13203,"0.99=84/85","位于基因组多拷贝区域+DNA结构正常",1188,"1p36","NM_000085.4"]
["12307A(99)v16720",7,2,0.29,"12307A","CLDN6","chr16:3065596","c.427T>C(E2)","p.143,I>V","rs2257295",0.3,0.18,0.2,0.17,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CLDN6",1,21,"错义",12220,"0.22=2/9","位于基因组多拷贝区域+DNA结构正常",9074,"16p13.3","NM_021195.4"]
["12307A(99)v7946",101,44,0.44,"12307A","CLIC6","chr21:36080290","c.1533C>T(E3)","p.511,F>F","rs6517254",0.37,0.18,0.19,0.17,0.18,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CLIC6",0.64,55,"同义",13203,"0.46=79/172","位于基因组单拷贝区域+DNA结构正常",54102,"21q22.12","NM_053277.1"]
["12307A(99)v12658",23,23,1,"12307A","CLPTM1","chr19:45476422","c.264T>C(E3)","p.88,A>A","rs204481",0.9,0.93,0.92,0.95,0.89,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CLPTM1",0.96,63,"同义",13203,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",1209,"19q13.3","NM_001294.2"]
["12307A(99)v16730",8,3,0.38,"12307A","CMTM3","chr16:66646591","m.906C>T(E6)","非编码区","rs3743719",0.36,0.43,0.45,0.42,null,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CMTM3",0.73,59,"非编码区",14200,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",123920,"16q21","NM_144601.3"]
["12307A(99)v9194",103,47,0.46,"12307A","CMYA5","chr5:79031558","c.6970G>A(E2)","p.2324,G>S","rs62621912",0.17,0.28,0.27,0.29,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,31,0,"CMYA5",0.99,140,"错义",12210,"0.48=92/191","位于基因组单拷贝区域+DNA结构正常",202333,"5q14.1","NM_153610.3"]
["12307A(99)v25092",43,21,0.49,"12307A","CNDP2","chr18:72176083","c.376T>C(E5)","p.126,Y>H","rs2278161",0.22,0.33,0.34,0.32,0.29,0.3,"杂合","无关","有rs号，MAF>=5%",19373489,{"$nulls":3},5,null,5,0,"CNDP2",1,120,"错义",12210,"0.40=31/78","位于基因组单拷贝区域+DNA结构正常",55748,"18q22.3","NM_018235.2"]
["12307A(99)v6158",50,27,0.54,"12307A","CNR2","chr1:24201733","c.375C>T(E2)","p.125,L>L",{"$nulls":5},0.0034,5.8E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"CNR2",1,63,"同义",13403,"0.57=43/75","位于基因组单拷贝区域+DNA结构正常",1269,"1p36.11","NM_001841.2"]
["12307A(99)v9685",66,30,0.45,"12307A","CNTN5","chr11:100226962","m.3679C>T(E24)","非编码区","rs1216182",0.23,0.29,0.29,0.3,null,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CNTN5",1,270,"非编码区",14200,"0.47=55/117","位于基因组单拷贝区域+DNA结构正常",53942,"11q21-q22.2","NM_001243270.1"]
["12307A(99)v7176",264,81,0.31,"12307A","COBL","chr7:51098568-51098570","c.1445(E9)至c.1443(E9):缺失TCT","缺失非移码","rs142060269",{"$nulls":4},0.06,0.45,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"COBL",0.99,100,"缺失非移码",2231,"0.31=94/299","位于基因组单拷贝区域+DNA结构正常",23242,"7p12.1","NM_015198.3"]
["12307A(99)v25009",52,52,1,"12307A","COG4","chr16:70548297","c.485G>A(E4)","p.162,T>I","rs3931036",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性糖基化病2J型","AR",613489,5,1,4,1,"COG4",1,140,"错义",12220,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",25839,"16q22.1","NM_001195139.1"]
["12307A(99)v6956",31,30,0.97,"12307A","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",226650,5,1,10,1,"COL17A1",0.99,110,"同义",13203,"0.98=51/52","位于基因组单拷贝区域+DNA结构正常",1308,"10q24.3","NM_000494.3"]
["12307A(99)v309",20,20,1,"12307A","COL1A1","chr17:48262775","m.4609A>G(E51)","非编码区","rs1061237",0.38,0.52,0.47,0.57,null,null,"纯合","无关","有rs号，MAF>=5%",null,"婴儿骨皮质肥厚症","AD",114000,5,1,4,8,"COL1A1",1,55,"非编码区",14200,"0.96=25/26","位于基因组单拷贝区域+DNA结构正常",1277,"17q21.33","NM_000088.3"]
["12307A(99)v19788",94,46,0.49,"12307A","COL1A2","chr7:94041937","c.1446A>C(E25)","p.482,P>P","rs412777",0.33,0.33,0.32,0.35,0.27,0.33,"杂合","无关","有rs号，MAF>=5%",null,"成骨不全4型","AD",166220,5,1,3,6,"COL1A2",1,230,"同义",13203,"0.50=90/179","位于基因组单拷贝区域+DNA结构正常",1278,"7q22.1","NM_000089.3"]
["12307A(99)v11841",22,12,0.55,"12307A","COL27A1","chr9:117071744","c.5422A>G(E60)","p.1808,M>V","rs3736252",0.1,0.26,0.27,0.26,0.23,0.25,"杂合","无关","有rs号，MAF>=5%",null,"Steel综合征","AR",615155,5,3,6,1,"COL27A1",0.98,76,"错义",12220,"0.56=20/36","位于基因组单拷贝区域+DNA结构正常",85301,"9q32","NM_032888.2"]
["12307A(99)v14451",8,1,0.12,"12307A","COL2A1","chr12:48371866","c.3038G>T(E44)","p.1013,S>Y","rs548585649",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",null,"软骨生成不全2型","AD",200610,2,1,4,14,"COL2A1",0.98,81,"错义",12310,"0.12=2/17","位于基因组单拷贝区域+DNA结构正常",1280,"12q13.11","NM_001844.4"]
["12307A(99)v26856",63,62,0.98,"12307A","COL4A1","chr13:110833702","c.2130C>T(E29)","p.710,P>P","rs16975492",0.31,0.26,0.3,0.23,0.25,0.28,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血管病伴肾病、微动脉瘤和肌肉痉挛","AD",611773,5,1,8,4,"COL4A1",0.98,180,"同义",13203,"0.99=100/101","位于基因组单拷贝区域+DNA结构正常",1282,"13q34","NM_001845.4"]
["12307A(99)v20798",1,1,1,"12307A","COL4A3","chr2:228178780","m.7369A>C(E52)","非编码区","rs7567291",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传的Alport综合征","AD",104200,5,1,6,3,"COL4A3",0.98,230,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",1285,"2q36-q37","NM_000091.4"]
["12307A(99)v20803",129,129,1,"12307A","COL4A3","chr2:228135631","c.1721C>T(E25)","p.574,P>L","rs28381984",0.4,0.44,0.42,0.45,0.43,0.47,"纯合","无关","有rs号，MAF>=5%",20029656,"常染色体显性遗传的Alport综合征","AD",104200,5,1,6,3,"COL4A3",0.98,230,"错义",12210,"1.00=248/248","位于基因组单拷贝区域+DNA结构正常",1285,"2q36-q37","NM_000091.4"]
["12307A(99)v10147",14,9,0.64,"12307A","COL5A3","chr19:10070954","m.5457T>A(E67)","非编码区","rs889129",0.79,0.86,0.81,0.91,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"COL5A3",0.97,92,"非编码区",14200,"0.60=9/15","位于基因组单拷贝区域+DNA结构正常",50509,"19p13.2","NM_015719.3"]
["12307A(99)v16686",8,1,0.12,"12307A","COL7A1","chr3:48630141","IVS6-9G>T","剪切位点",{"$nulls":7},"杂合","可能相关","mRNA剪接可能会受影响",null,"先天性缺甲症8型","AD",607523,2,1,2,7,"COL7A1",0.99,57,"剪切位点",16401,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",1294,"3p21.1","NM_000094.3"]
["12307A(99)v25682",40,19,0.47,"12307A","COLEC12","chr18:319935","m.2554T>C(E10)","非编码区","rs12190",0.27,0.087,0.081,0.092,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"COLEC12",1,130,"非编码区",14200,"0.46=27/59","位于基因组单拷贝区域+DNA结构正常",81035,"18pter-p11.3","NM_130386.2"]
["12307A(99)v29975",9,9,1,"12307A","COTL1","chr16:84600271","m.758A>G(E4)","非编码区","rs1046623",0.38,0.52,0.52,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"COTL1",1,69,"非编码区",14200,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",23406,"16q24.1","NM_021149.2"]
["12307A(99)v618",4,2,0.5,"12307A","COX8A","chr11:63742174","c.22C>T(E1)","p.8,L>L","rs7130187",0.035,0.041,0.038,0.044,0.037,0.071,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"COX8A",0.83,65,"同义",13103,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",1351,"11q12-q13","NM_004074.2"]
["12307A(99)v19691",2,2,1,"12307A","CPN2","chr3:194061043","m.2479G>A(E2)","非编码区","rs1048996",0.24,0.31,0.31,0.31,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CPN2",0.98,34,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",1370,"3q29","NM_001080513.2"]
["12307A(99)v27034",106,106,1,"12307A","CPS1","chr2:211456637","c.1048A>G(E11)","p.350,T>A","rs1047883",{"$nulls":4},0.47,0.55,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"新生儿肺动脉高压（易感）",null,615371,3,1,4,2,"CPS1",1,270,"错义",12320,"1.00=203/203","位于基因组单拷贝区域+DNA结构正常",1373,"2q35","NM_001122633.2"]
["12307A(99)v9927",4,4,1,"12307A","CPZ","chr4:8602884","c.156T>C(E3)","p.52,S>S","rs4301095",0.98,1,1,1,0.8,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CPZ",0.89,43,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",8532,"4p16.1","NM_001014447.2"]
["12307A(99)v30919",96,44,0.46,"12307A","CR2","chr1:207646322","c.1776G>A(E10)","p.592,L>L","rs1048971",0.4,0.19,0.16,0.21,0.24,0.22,"杂合","无关","有rs号，MAF>=5%","17360460;19387458;21347408","系统性红斑狼疮,易感9型",null,610927,5,2,5,2,"CR2",0.98,210,"同义",13203,"0.45=79/175","位于基因组单拷贝区域+DNA结构正常",1380,"1q32","NM_001006658.2"]
["12307A(99)v29143",48,23,0.48,"12307A","CRIM1","chr2:36668395","IVS2-6T>A","剪切位点","rs2276673",0.3,0.54,0.56,0.52,null,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CRIM1",0.96,130,"剪切位点",16201,"0.47=38/81","位于基因组单拷贝区域+DNA结构正常",51232,"2p21","NM_016441.2"]
["12307A(99)v29378",27,27,1,"12307A","CRISP2","chr6:49660418","m.1003A>C(E9)","非编码区","rs12624",0.67,0.79,0.78,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CRISP2",1,310,"非编码区",14200,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",7180,"6p12.3","NM_001142407.2"]
["12307A(99)v14914",101,49,0.49,"12307A","CRTC3","chr15:91083353","c.215G>A(E2)","p.72,S>N","rs8033595",0.37,0.19,0.17,0.21,0.2,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CRTC3",0.93,150,"错义",12220,"0.50=86/171","位于基因组单拷贝区域+DNA结构正常",64784,"15q26.1","NM_001042574.2"]
["12307A(99)v1609",28,15,0.54,"12307A","CSHL1","chr17:61986988","m.638A>G(E4)","非编码区","rs2070680",0.34,0.37,0.4,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CSHL1",1,160,"非编码区",14200,"0.49=23/47","位于基因组多拷贝区域+DNA结构正常",1444,"17q24.2","NM_001318.2"]
["12307A(99)v21241",9,1,0.11,"12307A","CSNK1G2","chr19:1979935","c.1112T>C(E11)","p.371,L>P",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"CSNK1G2",0.96,22,"错义",12410,"0.25=4/16","位于基因组单拷贝区域+DNA结构正常",1455,"19p13.3","NM_001319.6"]
["12307A(99)v17620",75,75,1,"12307A","CSRP2BP","chr20:18143117","c.1199T>G(E6)","p.400,V>G","rs1205193",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",19574904,{"$nulls":3},5,null,5,0,"CSRP2BP",1,160,"错义",12230,"1.00=115/115","位于基因组单拷贝区域+DNA结构正常",57325,"20p11.23","NM_020536.4"]
["12307A(99)v1494",363,169,0.47,"12307A","CTAGE4","chr7:143882673","c.2077C>T(E1)","p.693,L>F","rs201010806",{"$nulls":4},0.38,0.35,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"CTAGE4",1,560,"错义",12320,"0.48=296/615","位于基因组多拷贝区域+DNA结构正常",100128553,"7q35","NM_198495.2"]
["12307A(99)v13560",48,26,0.54,"12307A","CTSD","chr11:1782594","c.173G>A(E2)","p.58,A>V","rs17571",0.055,0.036,0.029,0.044,0.036,0.031,"杂合","无关","有rs号，MAF>=5%","16652347;17601350;18248894;18426579;18830724;19926167;20083556;23415546;23927501","神经元蜡样脂褐质沉积症10型","AR",610127,5,3,4,1,"CTSD",0.95,43,"错义",12220,"0.53=42/80","位于基因组单拷贝区域+DNA结构正常",1509,"11p15.5","NM_001909.4"]
["12307A(99)v23521",20,2,0.1,"12307A","CTSZ","chr20:57570583","m.1159C>T(E6)","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,"CTSZ",0.84,96,"非编码区",14400,"0.12=3/26","位于基因组单拷贝区域+DNA结构正常",1522,"20q13.32","NM_001336.3"]
["12307A(99)v31103",1,1,1,"12307A","CUL2","chr10:35297820","m.3892T>C(E21)","非编码区","rs138608007",0.022,0.077,0.057,0.097,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"CUL2",0.98,300,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",8453,"10p11.21","NM_001198777.1"]
["12307A(99)v19612",115,115,1,"12307A","CX3CR1","chr3:39323163","c.24A>C(E1)","p.8,F>L","rs11715522",0.42,0.69,0.71,0.67,0.65,0.69,"纯合","无关","有rs号，MAF>=5%",null,"人类免疫缺陷病毒易感1型",null,609423,5,1,2,3,"CX3CR1",1,120,"错义",12220,"1.00=200/200","位于基因组单拷贝区域+DNA结构正常",1524,"3p21.3","NM_001171174.1"]
["12307A(99)v24333",5,3,0.6,"12307A","CXXC11","chr2:242814360","c.653T>C(E2)","p.218,I>T","rs28378061",0.27,0.61,0.58,0.65,0.5,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CXXC11",0.8,11,"错义",12220,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",285093,"2q37.3","NM_173821.2"]
["12307A(99)v12527",23,6,0.26,"12307A","CYFIP1","chr15:22955308-22955308","UTR:缺失C","非编码区","rs3217548",0.53,0.5,0.54,0.46,0.044,0.48,"杂合","无关","不在基因上的突变",{"$nulls":4},5,null,5,0,"CYFIP1",1,120,"非编码区",2600,"0.24=6/25","位于基因组单拷贝区域+DNA结构正常",23191,"15q11","NM_001033028.1"]
["12307A(99)v20696",19,9,0.47,"12307A","CYP11B2","chr8:143996553","c.504G>A(E3)","p.168,F>F","rs4546",0.35,0.28,0.3,0.26,0.25,0.29,"杂合","无关","有rs号，MAF>=5%",null,"醛固酮缺乏症1型","AR",203400,5,3,8,2,"CYP11B2",1,66,"同义",13203,"0.50=16/32","位于基因组多拷贝区域+DNA结构正常",1585,"8q21-q22","NM_000498.3"]
["12307A(99)v31634",1,1,1,"12307A","CYP24A1","chr20:52771077","m.2177G>T(E12)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",null,"婴儿型高钙血症","AR",143880,3,1,4,1,"CYP24A1",0.93,140,"非编码区",14400,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",1591,"20q13","NM_000782.4"]
["12307A(99)v16213",9,9,1,"12307A","CYP2D6","chr22:42526694","c.100G>A(E1)","p.34,P>S","rs1065852",0.24,0.61,0.61,0.6,0.49,0.59,"纯合","无关","有疾病相关报道，MAF>=5%","18547414;18698231;19639055;20174590;21840870;23133420;24798984;24868171;24944790;25159483;","CYP2D6相关性药物代谢不良","AR",608902,5,1,7,1,"CYP2D6",0.98,19,"错义",11200,"1.00=18/18","位于基因组多拷贝区域+DNA结构正常",1565,"22q13.1","NM_000106.5"]
["12307A(99)v17484",41,41,1,"12307A","CYP4F12","chr19:15793235","c.562T>C(E6)","p.188,C>R","rs2285888",0.62,0.74,0.75,0.72,0.69,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CYP4F12",1,100,"错义",12230,"1.00=69/69","位于基因组多拷贝区域+DNA结构正常",66002,"19p13.1","NM_023944.3"]
["12307A(99)v956",6,1,0.17,"12307A","CYSTM1","chr5:139623154","m.690C>A(E3)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"CYSTM1",1,190,"非编码区",14400,"0.25=2/8","位于基因组多拷贝区域+DNA结构正常",84418,"5q31.3","NM_032412.3"]
["12307A(99)v19185",10,10,1,"12307A","DAK","chr11:61112802","c.1311C>T(E14)","p.437,V>V","rs2305465",0.79,0.97,0.98,0.97,0.85,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DAK",1,34,"同义",13203,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",26007,"11q12.2","NM_015533.3"]
["12307A(99)v21195",137,136,0.99,"12307A","DBT","chr1:100672060","c.1150T>C(E9)","p.384,S>G","rs12021720",0.89,0.96,0.96,0.95,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",null,"枫糖尿症IA型","AR",248600,5,1,1,1,"DBT",1,310,"错义",12230,"0.99=237/239","位于基因组单拷贝区域+DNA结构正常",1629,"1p31","NM_001918.3"]
["12307A(99)v9846",46,25,0.54,"12307A","DCAF8L1","chrX:27999146","c.306C>T(E1)","p.102,E>E","rs41311803",null,0.044,0.025,0.062,0.07,0.071,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"DCAF8L1",1,130,"同义",13303,"0.53=41/77","位于基因组单拷贝区域+DNA结构正常",139425,"Xp21.3","NM_001017930.1"]
["12307A(99)v28299",115,56,0.49,"12307A","DCLK1","chr13:36402426","c.327A>G(E5)","p.109,Y>Y","rs2296645",0.33,0.28,0.3,0.26,0.24,0.28,"杂合","无关","有rs号，MAF>=5%",19844571,{"$nulls":3},5,null,3,0,"DCLK1",0.97,200,"同义",13203,"0.47=95/201","位于基因组单拷贝区域+DNA结构正常",9201,"13q13","NM_001195415.1"]
["12307A(99)v7505",4,3,0.75,"12307A","DCTD","chr4:183812287","m.999A>G(E6)","非编码区","rs3190314",0.37,0.24,0.19,0.28,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DCTD",0.95,210,"非编码区",14200,"0.88=7/8","位于基因组单拷贝区域+DNA结构正常",1635,"4q35.1","NM_001012732.1"]
["12307A(99)v2867",5,5,1,"12307A","DDX21","chr10:70742764-70742766","m.2770(E15)至m.2772(E15):缺失CTT","非编码区","rs71860993",0.65,0.94,0.95,0.94,0,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"DDX21",1,260,"非编码区",2420,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",9188,"10q21","NM_001256910.1"]
["12307A(99)v29500",84,37,0.44,"12307A","DDX4","chr5:55081694","c.757A>G(E12)","p.253,I>V","rs2305123",0.099,0.15,0.18,0.13,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DDX4",1,330,"错义",12220,"0.41=56/138","位于基因组单拷贝区域+DNA结构正常",54514,"5p15.2-p13.1","NM_001142549.1"]
["12307A(99)v24460",34,17,0.5,"12307A","DEFB119","chr20:29965014","m.456T>C(E2)","非编码区","rs709045",0.49,0.72,0.7,0.75,null,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DEFB119",1,200,"非编码区",14200,"0.51=27/53","位于基因组单拷贝区域+DNA结构正常",245932,"20q11.21","NM_153289.3"]
["12307A(99)v14387",8,8,1,"12307A","DENND3","chr8:142146708","m.241T>C(E2)","非编码区","rs307772",0.89,0.99,0.98,1,null,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"DENND3",1,100,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",22898,"8q24.3","NM_014957.2"]
["12307A(99)v28903",9,6,0.67,"12307A","DES","chr2:220290813","m.1600T>A(E9)","非编码区","rs577767946",0.0004,0.0024,0.0048,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"Kaeser型肩胛腓骨肌神经病","AD",181400,3,1,1,4,"DES",0.87,40,"非编码区",14100,"0.58=7/12","位于基因组单拷贝区域+DNA结构正常",1674,"2q35","NM_001927.3"]
["12307A(99)v25194",11,1,0.09,"12307A","DGAT1","chr8:145540155","m.1797G>T(E17)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"腹泻7型","AR",615863,3,3,1,1,"DGAT1",0.86,39,"非编码区",14400,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",8694,"8q24.3","NM_012079.4"]
["12307A(99)v31534",23,23,1,"12307A","DHODH","chr16:72042682","c.19A>C(E1)","p.7,K>Q","rs3213422",0.56,0.75,0.77,0.73,0.7,0.76,"纯合","无关","有rs号，MAF>=5%",19207032,"Miller综合征","AR",263750,5,1,1,1,"DHODH",1,89,"错义",12220,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",1723,"16q22","NM_001361.4"]
["12307A(99)v21669",7,4,0.57,"12307A","DHX34","chr19:47885480","m.3891T>C(E17)","非编码区","rs3745172",0.04,0.19,0.17,0.22,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"DHX34",0.93,44,"非编码区",14100,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",9704,"19q13.3","NM_014681.5"]
["12307A(99)v7835",94,45,0.48,"12307A","DHX36","chr3:154018887","c.1247G>C(E10)","p.416,S>C","rs9438",0.41,0.43,0.45,0.4,0.42,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DHX36",1,300,"错义",12210,"0.47=80/171","位于基因组单拷贝区域+DNA结构正常",170506,"3q25.2","NM_001114397.1"]
["12307A(99)v20270",57,56,0.98,"12307A","DIP2C","chr10:429977","c.1866G>A(E16)","p.622,G>G","rs10904083",0.38,0.47,0.44,0.5,0.41,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DIP2C",0.98,130,"同义",13203,"0.98=93/95","位于基因组单拷贝区域+DNA结构正常",22982,"10p15.3","NM_014974.2"]
["12307A(99)v9067",66,22,0.33,"12307A","DISC1","chr1:232144598","c.2110A>T(E11)","p.704,S>C","rs821616",0.25,0.13,0.11,0.15,0.15,0.12,"杂合","无关","有rs号，MAF>=5%","15386212;15939883;16054297;17286247;17673452;17997036;18072279;19188535;19300510;19414483;19805229;20403199;20531374;21878470;23140672;23283688;23602339;23639181;23732877;24013095;25012417;25105667","精神分裂症","AD",181500,5,1,8,2,"DISC1",0.87,100,"错义",12210,"0.36=38/106","位于基因组单拷贝区域+DNA结构正常",27185,"1q42.1","NM_001012957.1"]
["12307A(99)v934",2,2,1,"12307A","DLEC1","chr3:38081031","c.315A>T(E1)","p.105,S>S","rs7616776",0.34,0.57,0.51,0.64,0.44,0.55,"纯合","无关","有rs号，MAF>=5%",null,"食管癌","AD",133239,5,1,7,2,"DLEC1",1,90,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",9940,"3p21.3","NM_007335.2"]
["12307A(99)v12876",2,2,1,"12307A","DLL1","chr6:170592945","c.1422C>T(E9)","p.474,T>T","rs3734776",0.18,0.61,0.62,0.6,0.41,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DLL1",0.95,52,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",28514,"6q27","NM_005618.3"]
["12307A(99)v7277",6,1,0.17,"12307A","DMRTB1","chr1:53927231","c.663G>T(E2)","p.221,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"DMRTB1",0.9,20,"同义",13403,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",63948,"1p32.3","NM_033067.1"]
["12307A(99)v26135",127,66,0.52,"12307A","DMXL2","chr15:51795172","c.2823G>A(E17)","p.941,N>N","rs12592889",0.41,0.44,0.43,0.44,0.4,0.42,"杂合","无关","有rs号，MAF>=5%",null,"多内分泌腺病-多发性神经病变综合征","AR",616113,5,3,7,1,"DMXL2",1,240,"同义",13203,"0.52=115/223","位于基因组单拷贝区域+DNA结构正常",23312,"15q21.2","NM_001174116.1"]
["12307A(99)v12179",80,40,0.5,"12307A","DNAH14","chr1:225230608","c.1560C>T(E13)","p.520,C>C","rs2501107",0.7,0.72,0.69,0.75,0.71,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"DNAH14",1,310,"同义",13203,"0.48=61/128","位于基因组单拷贝区域+DNA结构正常",127602,"1q42.12","NM_001373.1"]
["12307A(99)v16347",23,1,0.04,"12307A","DNAH17","chr17:76557973","c.1659G>T(E12)","p.553,D>E",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,22,0,"DNAH17",1,86,"错义",12420,"0.09=4/44","位于基因组单拷贝区域+DNA结构正常",8632,"17q25.3","NM_173628.3"]
["12307A(99)v31676",107,48,0.45,"12307A","DNAH5","chr5:13737444","c.11372G>A(E66)","p.3791,T>I","rs17263496",0.066,0.041,0.076,0.0049,0.028,0.038,"杂合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍3型（伴或不伴内脏异位）",null,608644,5,2,17,1,"DNAH5",1,240,"错义",12210,"0.39=74/190","位于基因组单拷贝区域+DNA结构正常",1767,"5p15.2","NM_001369.2"]
["12307A(99)v22687",61,27,0.44,"12307A","DNAH9","chr17:11651057","c.6584A>G(E32)","p.2195,N>S","rs3744581",0.22,0.32,0.3,0.34,0.37,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"DNAH9",0.97,140,"错义",12210,"0.46=48/104","位于基因组单拷贝区域+DNA结构正常",1770,"17p12","NM_001372.3"]
["12307A(99)v1991",77,39,0.51,"12307A","DNAJB13","chr11:73681090","c.882C>T(E8)","p.294,F>F","rs2306819",0.25,0.11,0.09,0.13,0.13,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DNAJB13",1,150,"同义",13203,"0.53=67/127","位于基因组单拷贝区域+DNA结构正常",374407,"11q13.4","NM_153614.2"]
["12307A(99)v871",28,18,0.64,"12307A","DNHD1","chr11:6541580","m.2700T>G(E8)","非编码区","rs2555143",0.59,0.3,0.29,0.32,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"DNHD1",1,77,"非编码区",14200,"0.66=31/47","位于基因组单拷贝区域+DNA结构正常",144132,"11p15.4","NM_173589.3"]
["12307A(99)v26627",55,25,0.45,"12307A","DNM2","chr19:10887870","c.666C>T(E5)","p.222,N>N","rs2229921",0.0004,0.0024,0,0.0049,3.8E-3,0.0024,"杂合","未知","预测范围之外的同义突变",null,"中央核肌病1型","AD",160150,4,1,2,3,"DNM2",1,81,"同义",13103,"0.41=40/98","位于基因组单拷贝区域+DNA结构正常",1785,"19p13.2","NM_001005360.2"]
["12307A(99)v844",97,43,0.44,"12307A","DOCK11","chrX:117700141","c.867A>G(E8)","p.289,A>A","rs2286977",null,0.52,0.5,0.54,0.53,0.56,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"DOCK11",1,350,"同义",13303,"0.48=88/184","位于基因组单拷贝区域+DNA结构正常",139818,"Xq24","NM_144658.3"]
["12307A(99)v25780",22,9,0.41,"12307A","DOCK6","chr19:11327626","c.3858A>G(E30)","p.1286,D>D","rs4804152",0.58,0.58,0.56,0.6,0.52,0.59,"杂合","无关","有rs号，MAF>=5%",null,"Adams-Oliver 综合征2型","AR",614219,5,3,8,1,"DOCK6",1,47,"同义",13203,"0.38=11/29","位于基因组单拷贝区域+DNA结构正常",57572,"19p13.2","NM_020812.3"]
["12307A(99)v12116",103,45,0.44,"12307A","DONSON","chr21:34951753","c.1466T>C(E9)","p.489,K>R","rs146664036",0.0016,0.0096,0,0.019,0.008,0.012,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"DONSON",0.81,230,"错义",12120,"0.42=78/186","位于基因组多拷贝区域+DNA结构正常",29980,"21q22.1","NM_017613.3"]
["12307A(99)v19967",24,11,0.46,"12307A","DPH1","chr17:1943888","c.1011T>C(E9)","p.337,P>P","rs2236375",0.82,0.91,0.96,0.86,0.89,0.93,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DPH1",0.93,54,"同义",13203,"0.43=18/42","位于基因组单拷贝区域+DNA结构正常",1801,"17p13.3","NM_001383.3"]
["12307A(99)v1341",42,42,1,"12307A","DPYSL4","chr10:134013990","c.942G>A(E9)","p.314,A>A","rs2247705",0.85,0.93,0.92,0.94,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DPYSL4",1,49,"同义",13203,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",10570,"10q26","NM_006426.2"]
["12307A(99)v28867",21,21,1,"12307A","DRD2","chr11:113283477","c.939A>G(E7)","p.313,H>H","rs6275",0.53,0.45,0.42,0.48,0.42,0.46,"纯合","无关","有rs号，MAF>=5%","16867246;18077373;18154681;18305461;18477981;18698231;18829695;18838251;19197363;19207030;19373123;19512960;19590515;19772578;19911060;19913597;20191112;21095016;21354244;22290307;22875483;22970887;23856854;24724616","肌阵挛性肌张力障碍","AD",159900,5,1,2,1,"DRD2",1,80,"同义",13203,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",1813,"11q23","NM_000795.3"]
["12307A(99)v29318",81,39,0.48,"12307A","DSG1","chr18:28898201","m.150A>G(E1)","非编码区","rs1834582",0.36,0.062,0.071,0.053,0.065,null,"杂合","无关","有rs号，MAF>=5%",null,"掌跖角化病，多毛症，以及高IgE相关的先天性红皮症","AR",615508,5,3,5,2,"DSG1",1,220,"非编码区",14200,"0.48=79/165","位于基因组单拷贝区域+DNA结构正常",1828,"18q12.1","NM_001942.2"]
["12307A(99)v4149",38,15,0.39,"12307A","DSP","chr6:7584617","c.5325C>T(E24)","p.1775,T>T","rs2076300",0.21,0.046,0.033,0.058,0.078,0.068,"杂合","无关","有rs号，MAF>=5%",null,"致心律失常性右室发育不良8","AD",607450,5,1,6,6,"DSP",1,130,"同义",13203,"0.40=25/63","位于基因组单拷贝区域+DNA结构正常",1832,"6p24","NM_001008844.1"]
["12307A(99)v22083",37,36,0.97,"12307A","DSPP","chr4:88537232","c.3418A>G(E5)","p.1140,N>D","rs140656082",0.85,0.88,0.86,0.89,0.76,0.15,"纯合","无关","有rs号，MAF>=5%",null,"牙质形成不全1型","AD",125490,5,1,21,4,"DSPP",1,160,"错义",12220,"0.98=59/60","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12307A(99)v22090",44,15,0.34,"12307A","DSPP","chr4:88537035","c.3221A>G(E5)","p.1074,D>G","rs202210195",{"$nulls":4},0.16,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"牙质形成不全，SHIELDS3型","AD",125500,3,1,21,4,"DSPP",1,160,"错义",12320,"0.31=22/71","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12307A(99)v22094",74,32,0.43,"12307A","DSPP","chr4:88534235","c.897A>G(E4)","p.299,S>S","rs2736982",0.67,0.71,0.71,0.71,0.65,0.69,"杂合","无关","有rs号，MAF>=5%",null,"牙质形成不全1型","AD",125490,5,1,21,4,"DSPP",1,160,"同义",13203,"0.40=47/118","位于基因组单拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12307A(99)v13812",60,26,0.43,"12307A","DUOX1","chr15:45453032","IVS29-3T>C","剪切位点","rs3784584",0.29,0.44,0.4,0.48,null,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"DUOX1",1,88,"剪切位点",16202,"0.39=42/108","位于基因组单拷贝区域+DNA结构正常",53905,"15q15.3","NM_017434.3"]
["12307A(99)v15301",124,54,0.44,"12307A","DUSP15","chr20:30452782","c.162C>T(E4)","p.54,P>P","rs4911536",0.28,0.39,0.43,0.35,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DUSP15",0.78,89,"同义",13203,"0.42=91/215","位于基因组单拷贝区域+DNA结构正常",128853,"20q11.21","NM_080611.3"]
["12307A(99)v26966",127,61,0.48,"12307A","DYNC2LI1","chr2:44004010","c.98T>C(E2)","p.33,F>S","rs2288709",0.51,0.2,0.2,0.2,0.19,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DYNC2LI1",1,350,"错义",12220,"0.47=108/228","位于基因组单拷贝区域+DNA结构正常",51626,"2p25.1-p24.1","NM_001193464.1"]
["12307A(99)v24243",39,23,0.59,"12307A","DYSF","chr2:71838443","c.3975C>T(E37)","p.1325,N>N","rs11558179",0.19,0.048,0.038,0.058,0.026,0.039,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2B型","AR",253601,5,3,4,3,"DYSF",0.99,88,"同义",13203,"0.58=35/60","位于基因组单拷贝区域+DNA结构正常",8291,"2p13.3","NM_001130455.1"]
["12307A(99)v7274",10,4,0.4,"12307A","ECHDC2","chr1:53361928","m.1244A>G(E10)","非编码区","rs1044365",0.064,0.034,0.019,0.049,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ECHDC2",0.89,95,"非编码区",14200,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",55268,"1p32.3","NM_001198961.1"]
["12307A(99)v29207",15,1,0.07,"12307A","ECSIT","chr19:11624886","c.247C>T(E3)","p.83,E>K",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ECSIT",1,45,"错义",12420,"0.16=4/25","位于基因组单拷贝区域+DNA结构正常",51295,"19p13.2","NM_001142464.2"]
["12307A(99)v14423",92,42,0.46,"12307A","EDDM3A","chr14:21215997","c.258C>T(E2)","p.86,S>S","rs11847654",0.28,0.43,0.43,0.44,0.4,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EDDM3A",1,130,"同义",13203,"0.50=83/166","位于基因组多拷贝区域+DNA结构正常",10876,"14q11.2","NM_006683.4"]
["12307A(99)v13818",7,7,1,"12307A","EFCAB4B","chr12:3757548","m.1850T>C(E11)","非编码区","rs887304",0.86,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"EFCAB4B",1,110,"非编码区",14200,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",84766,"12p13.32","NM_032680.3"]
["12307A(99)v6466",141,75,0.53,"12307A","EFHB","chr3:19959756","c.1145G>A(E4)","p.382,T>I","rs2929366",0.61,0.34,0.32,0.35,0.35,0.33,"杂合","无关","有rs号，MAF>=5%","18927125;19956101;19956106;19956109",{"$nulls":3},5,null,5,0,"EFHB",1,230,"错义",12220,"0.52=129/250","位于基因组单拷贝区域+DNA结构正常",151651,"3p24.3","NM_144715.3"]
["12307A(99)v5357",98,46,0.47,"12307A","EGFLAM","chr5:38412674","c.1418C>T(E11)","p.473,T>M","rs16903965",0.12,0.25,0.25,0.24,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"EGFLAM",0.99,180,"错义",12210,"0.50=86/171","位于基因组单拷贝区域+DNA结构正常",133584,"5p13.2-p13.1","NM_001205301.1"]
["12307A(99)v10975",7,1,0.14,"12307A","EGLN2","chr19:41306675","c.198C>A(E2)","p.66,A>A",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"EGLN2",0.93,20,"同义",13403,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",112398,"19q13.2","NM_053046.3"]
["12307A(99)v14615",493,2,0,"12307A","EIF3C","chr16:28734579-28734581","c.871(E9)至c.873(E9):缺失GAG","缺失非移码",{"$nulls":6},0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"EIF3C",1,230,"缺失非移码",2242,"0.01=3/587","位于基因组多拷贝区域+DNA结构正常",8663,"16p11.2","NM_001037808.1"]
["12307A(99)v4023",1,1,1,"12307A","EIF4EBP2","chr10:72186524","m.5681T>C(E3)","非编码区","rs3088383",0.5,0.69,0.73,0.65,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EIF4EBP2",0.93,180,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",1979,"10q21-q22","NM_004096.4"]
["12307A(99)v27122",7,7,1,"12307A","ELMSAN1","chr14:74205878","c.834C>T(E2)","p.278,P>P","rs17782128",0.15,0.12,0.15,0.1,0.096,0.16,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ELMSAN1",1,43,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",91748,"14q24.3","NM_001043318.1"]
["12307A(99)v18138",27,26,0.96,"12307A","EMID2","chr7:101200669-101200670","c.1178(E13)至c.1179(E13):插入G","插入移码","rs398095266",1,1,1,1,0.18,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,3,0,"EMID2",0.88,27,"插入移码",2120,"0.97=29/30","位于基因组单拷贝区域+DNA结构正常",136227,"7q22.1","NM_133457.2"]
["12307A(99)v3118",66,28,0.42,"12307A","EMR3","chr19:14758168","c.707G>A(E8)","p.236,A>V","rs34226397",0.3,0.25,0.27,0.22,0.23,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EMR3",1,160,"错义",12220,"0.40=45/112","位于基因组单拷贝区域+DNA结构正常",84658,"19p13.1","NM_032571.3"]
["12307A(99)v15111",129,60,0.47,"12307A","ENPP1","chr6:132190576","c.1352A>G(E13)","p.451,Y>C","rs201519006",0.0004,0,0,0,1.9E-3,0.0021,"杂合","可能相关","蛋白结构预测结果为有害",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,2,1,1,5,"ENPP1",0.91,280,"错义",12110,"0.48=112/235","位于基因组单拷贝区域+DNA结构正常",5167,"6q22-q23","NM_006208.2"]
["12307A(99)v21380",2,2,1,"12307A","ENTHD2","chr17:79202956","c.1350T>C(E12)","p.450,P>P","rs2048057",0.46,0.71,0.72,0.7,0.57,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ENTHD2",0.91,13,"同义",13203,"0.80=4/5","位于基因组单拷贝区域+DNA结构正常",146705,"17q25.3","NM_144679.2"]
["12307A(99)v25717",37,20,0.54,"12307A","EPCAM","chr2:47613870","m.1421T>C(E9)","非编码区","rs1421",0.1,0.19,0.18,0.21,null,null,"杂合","无关","有rs号，MAF>=5%",null,"遗传性非息肉性结直肠癌8型（Lynch综合征）",null,613244,5,2,3,2,"EPCAM",0.92,270,"非编码区",14200,"0.57=25/44","位于基因组多拷贝区域+DNA结构正常",4072,"2p21","NM_002354.2"]
["12307A(99)v9671",89,41,0.46,"12307A","EPHB3","chr3:184289152","c.165A>G(E2)","p.55,T>T","rs13069661",0.21,0.3,0.3,0.3,0.29,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EPHB3",0.96,52,"同义",13203,"0.48=86/180","位于基因组单拷贝区域+DNA结构正常",2049,"3q21-qter","NM_004443.3"]
["12307A(99)v28420",210,85,0.4,"12307A","ERAP1","chr5:96126308","c.1359A>G(E9)","p.453,S>S","rs27529",0.6,0.51,0.51,0.5,0.5,0.48,"杂合","无关","有rs号，MAF>=5%","19692350;21078719",{"$nulls":3},5,null,11,0,"ERAP1",1,230,"同义",13203,"0.42=154/370","位于基因组单拷贝区域+DNA结构正常",51752,"5q15","NM_001040458.1"]
["12307A(99)v22499",47,26,0.55,"12307A","ERBB3","chr12:56494991","c.3348G>A(E27)","p.1116,R>R","rs2271189",0.25,0.33,0.28,0.38,0.28,0.32,"杂合","无关","有rs号，MAF>=5%",19995212,"先天致死性挛缩综合征2型","AR",607598,5,3,2,1,"ERBB3",1,150,"同义",13203,"0.50=35/70","位于基因组单拷贝区域+DNA结构正常",2065,"12q13","NM_001982.3"]
["12307A(99)v22903",67,30,0.45,"12307A","ERCC6","chr10:50732280","c.1196C>T(E5)","p.399,G>D","rs2228528",0.24,0.49,0.52,0.46,0.42,0.46,"杂合","无关","有rs号，MAF>=5%","25026993;9443879","肺癌","AR",211980,5,3,8,6,"ERCC6",1,180,"错义",12220,"0.46=45/98","位于基因组单拷贝区域+DNA结构正常",2074,"10q11.23","NM_000124.2"]
["12307A(99)v22905",254,2,0.01,"12307A","ERCC6","chr10:50732139-50732141","c.1337(E5)至c.1335(E5):缺失CCT","缺失非移码",{"$nulls":5},1.8E-3,0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Cockayne综合征B型/小头、纹状体小脑钙化和脑白质营养不良综合征","AR",133540,3,3,8,6,"ERCC6",1,180,"缺失非移码",2242,"0.01=3/287","位于基因组单拷贝区域+简单重复结构",2074,"10q11.23","NM_000124.2"]
["12307A(99)v7716",114,114,1,"12307A","ERN1","chr17:62125272","c.2475A>G(E19)","p.825,H>H","rs196923",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ERN1",0.98,130,"同义",13203,"0.99=195/196","位于基因组单拷贝区域+DNA结构正常",2081,"17q24.2","NM_001433.3"]
["12307A(99)v17124",16,9,0.56,"12307A","ESPNL","chr2:239040343","c.2988G>A(E9)","p.996,K>K","rs73102311",0.086,0.06,0.043,0.078,0.058,0.051,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ESPNL",0.81,8.4,"同义",13203,"0.54=15/28","位于基因组单拷贝区域+DNA结构正常",339768,"2q37.3","NM_194312.2"]
["12307A(99)v30205",255,255,1,"12307A","ETFDH","chr4:159601676","c.92C>T(E2)","p.31,T>I","rs11559290",0.67,0.99,0.99,0.99,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"戊二酸血症II型A型/多种酰基辅酶A脱氢酶缺乏症","AR",231680,5,1,1,1,"ETFDH",1,290,"错义",12220,"1.00=448/448","位于基因组单拷贝区域+DNA结构正常",2110,"4q32-q35","NM_004453.2"]
["12307A(99)v199",168,167,0.99,"12307A","EVC","chr4:5747078","IVS7+10A>G","非编码区","rs2286342",0.59,0.33,0.3,0.35,0.26,0.34,"纯合","无关","有rs号，MAF>=5%",null,"Weyers头面骨发育不全综合征","AD",193530,5,1,8,2,"EVC",0.9,100,"非编码区",16203,"1.00=291/292","位于基因组单拷贝区域+DNA结构正常",2121,"4p16","NM_153717.2"]
["12307A(99)v18233",122,63,0.52,"12307A","EXD1","chr15:41476465","c.1209G>A(E10)","p.403,T>T","rs690733",0.52,0.29,0.29,0.29,0.33,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"EXD1",1,230,"同义",13203,"0.50=85/171","位于基因组单拷贝区域+DNA结构正常",161829,"15q15.1","NM_152596.2"]
["12307A(99)v4694",28,28,1,"12307A","EXOSC10","chr1:11141187","c.1389C>G(E11)","p.463,P>P","rs2258621",0.77,0.93,0.92,0.94,0.91,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EXOSC10",1,170,"同义",13203,"1.00=50/50","位于基因组单拷贝区域+DNA结构正常",5394,"1p36.22","NM_001001998.1"]
["12307A(99)v7047",85,37,0.44,"12307A","EXTL1","chr1:26357667","c.1146G>A(E5)","p.382,L>L","rs11247848",0.15,0.23,0.24,0.21,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EXTL1",1,45,"同义",13203,"0.45=58/130","位于基因组单拷贝区域+DNA结构正常",2134,"1p36.1","NM_004455.2"]
["12307A(99)v25209",39,39,1,"12307A","F2","chr11:46745003","c.494C>T(E6)","p.165,T>M","rs5896",0.22,0.57,0.64,0.5,0.54,0.61,"纯合","无关","有rs号，MAF>=5%","16255080;17048007;18305455;18596683;19737746;23238918;24162564","其他易栓症易感基因","AD",188050,5,1,2,4,"F2",1,68,"错义",12210,"1.00=63/63","位于基因组单拷贝区域+DNA结构正常",2147,"11p11","NM_000506.3"]
["12307A(99)v26049",87,87,1,"12307A","FAAH2","chrX:57475132","c.1404T>C(E10)","p.468,P>P","rs1367830",null,0.68,0.7,0.66,0.71,0.66,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"FAAH2",1,320,"同义",13303,"1.00=136/136","位于基因组单拷贝区域+DNA结构正常",158584,"Xp11.21","NM_174912.3"]
["12307A(99)v27327",2,2,1,"12307A","FAM108B1","chr9:74480701","m.2471C>T(E4)","非编码区","rs2030701",0.93,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FAM108B1",1,220,"非编码区",14200,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",51104,"9q21.13","NM_001025780.1"]
["12307A(99)v7334",115,78,0.68,"12307A","FAM115A","chr7:143554451","IVS7-8G>A","剪切位点","rs200166862",{"$nulls":5},0.49,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"FAM115A",1,99,"剪切位点",16302,"0.68=121/178","位于基因组多拷贝区域+DNA结构正常",9747,"7q35","NM_001206938.1"]
["12307A(99)v12739",43,13,0.3,"12307A","FAM135B","chr8:139164570","c.2148C>T(E13)","p.716,P>P","rs3750307",0.21,0.24,0.2,0.28,0.22,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"FAM135B",1,170,"同义",13203,"0.30=18/61","位于基因组单拷贝区域+DNA结构正常",51059,"8q24.23","NM_015912.3"]
["12307A(99)v1882",94,42,0.45,"12307A","FAM13A","chr4:89744242","m.271T>C(E1)","非编码区","rs2305934",0.27,0.38,0.41,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FAM13A",1,240,"非编码区",14200,"0.47=68/146","位于基因组单拷贝区域+DNA结构正常",10144,"4q22.1","NM_001015045.2"]
["12307A(99)v1269",42,42,1,"12307A","FAM161A","chr2:62066927","c.1212A>G(E3)","p.404,C>C","rs4672457",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性28型-AR",null,606068,5,1,5,1,"FAM161A",0.94,160,"同义",13203,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",84140,"2p15","NM_001201543.1"]
["12307A(99)v2217",77,76,0.99,"12307A","FAM184B","chr4:17694916","IVS6+9A>G","非编码区","rs3822235",0.66,0.92,0.91,0.92,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"FAM184B",0.95,110,"非编码区",16203,"0.99=120/121","位于基因组单拷贝区域+DNA结构正常",27146,"4p16","NM_015688.1"]
["12307A(99)v13300",244,156,0.64,"12307A","FAM18B2","chr17:15443734","c.604A>G(E6)","p.202,W>R","rs200768112",0.43,0.5,0.49,0.5,0.4,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FAM18B2",1,380,"错义",12220,"0.63=248/395","位于基因组多拷贝区域+DNA结构正常",201158,"17p12","NM_001135036.1"]
["12307A(99)v21516",194,95,0.49,"12307A","FAM190B","chr10:86273249","c.2455T>C(E11)","p.819,S>P","rs11557865",0.22,0.25,0.27,0.22,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FAM190B",1,210,"错义",12220,"0.49=172/353","位于基因组多拷贝区域+DNA结构正常",54462,"10q23.1","NM_018999.2"]
["12307A(99)v7518",89,89,1,"12307A","FAM208A","chr3:56667682","c.3137G>C(E18)","p.1046,T>R","rs9835332",0.78,0.95,0.97,0.93,0.93,0.96,"纯合","无关","有rs号，MAF>=5%",20881960,{"$nulls":3},5,null,5,0,"FAM208A",0.99,250,"错义",12220,"1.00=148/148","位于基因组单拷贝区域+DNA结构正常",23272,"3p14.3","NM_001112736.1"]
["12307A(99)v25634",210,210,1,"12307A","FAM228B","chr2:24384424","c.735T>C(E8)","p.245,P>P","rs4665667",0.81,0.9,0.9,0.91,0.86,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FAM228B",1,370,"同义",13203,"1.00=425/425","位于基因组单拷贝区域+DNA结构正常",375190,"2p23.3","NM_001145710.1"]
["12307A(99)v17117",2,1,0.5,"12307A","FAM22G","chr9:99703272","m.2894T>C(E7)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"FAM22G",1,73,"非编码区",14400,"0.67=2/3","位于基因组多拷贝区域+DNA结构正常",441457,"9q22.33","NM_001045477.2"]
["12307A(99)v20023",4,1,0.25,"12307A","FAM65A","chr16:67572629","c.171C>T(E3)","p.57,S>S","rs372941924",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"FAM65A",0.96,87,"同义",13303,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",79567,"16q22.1","NM_001193522.1"]
["12307A(99)v26923",67,34,0.51,"12307A","FAM71F2","chr7:128317658","c.406C>T(E3)","p.136,R>W","rs6467210",0.33,0.54,0.59,0.49,0.5,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FAM71F2",1,170,"错义",12210,"0.50=55/109","位于基因组单拷贝区域+DNA结构正常",346653,"7q32.1","NM_001012454.3"]
["12307A(99)v9766",1,1,1,"12307A","FAM89A","chr1:231155326","m.876A>G(E2)","非编码区","rs138776125",0.0012,0.0048,0,0.0097,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"FAM89A",0.48,39,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",375061,"1q42.2","NM_198552.2"]
["12307A(99)v12163",11,10,0.91,"12307A","FAN1","chr15:31234932","m.4512C>T(E15)","非编码区","rs1043251",0.83,0.99,0.99,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",null,"核巨大性间质性肾炎","AR",614817,5,1,4,1,"FAN1",1,180,"非编码区",14200,"0.92=11/12","位于基因组单拷贝区域+DNA结构正常",22909,"15q13.2-q13.3","NM_014967.4"]
["12307A(99)v20462",148,147,0.99,"12307A","FAS","chr10:90771829","c.642T>C(E7)","p.214,T>T","rs2234978",0.78,0.96,0.96,0.96,0.93,0.98,"纯合","无关","有rs号，MAF>=5%","19669200;20694011;20813889;20959405;23378343","自身免疫性淋巴细胞增生综合征","AD",601859,5,1,1,1,"FAS",1,260,"同义",13203,"1.00=282/283","位于基因组单拷贝区域+DNA结构正常",355,"10q24.1","NM_000043.4"]
["12307A(99)v4622",15,11,0.73,"12307A","FAT2","chr5:150945483","c.3010C>T(E1)","p.1004,G>S","rs3734055",0.4,0.38,0.42,0.33,0.31,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,26,0,"FAT2",1,100,"错义",12220,"0.75=15/20","位于基因组单拷贝区域+DNA结构正常",2196,"5q33.1","NM_001447.2"]
["12307A(99)v139",124,122,0.98,"12307A","FAT4","chr4:126241871","c.4305C>T(E1)","p.1435,I>I","rs2710555",0.71,0.47,0.41,0.53,0.48,0.46,"纯合","无关","有rs号，MAF>=5%",null,"Hennekam淋巴管扩张-淋巴水肿综合征2型","AR",616006,5,1,12,2,"FAT4",1,150,"同义",13203,"0.99=204/206","位于基因组单拷贝区域+DNA结构正常",79633,"4q28.1","NM_024582.4"]
["12307A(99)v29399",146,146,1,"12307A","FBN1","chr15:48807637","c.1415C>T(E12)","p.472,C>Y","rs4775765",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"二尖瓣脱垂综合征",null,604308,5,1,4,7,"FBN1",1,230,"错义",12230,"1.00=255/255","位于基因组单拷贝区域+DNA结构正常",2200,"15q21.1","NM_000138.4"]
["12307A(99)v29401",124,62,0.5,"12307A","FBN1","chr15:48779530","c.3442G>C(E28)","p.1148,P>A","rs140598",0.06,0.25,0.24,0.26,0.27,0.24,"杂合","无关","有rs号，MAF>=5%","20547088;21331051;933858;8988160;10679954;11748851;16596670;19328768","Geleophysic发育不良2型","AD",614185,5,1,4,7,"FBN1",1,230,"错义",12210,"0.50=104/210","位于基因组单拷贝区域+DNA结构正常",2200,"15q21.1","NM_000138.4"]
["12307A(99)v27498",164,77,0.47,"12307A","FBXL13","chr7:102462636","c.1734T>C(E18)","p.578,A>A","rs10279449",0.52,0.59,0.62,0.56,0.56,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FBXL13",1,280,"同义",13203,"0.48=155/320","位于基因组单拷贝区域+DNA结构正常",222235,"7q22.1","NM_001111038.1"]
["12307A(99)v9898",98,45,0.46,"12307A","FBXO25","chr8:363192","c.113G>A(E2)","p.38,R>H","rs10090550",0.57,0.42,0.39,0.45,0.45,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FBXO25",1,240,"错义",12220,"0.44=76/171","位于基因组多拷贝区域+DNA结构正常",26260,"8p23.3","NM_183420.1"]
["12307A(99)v2787",103,103,1,"12307A","FBXO47","chr17:37101380","c.626T>C(E7)","p.209,Q>R","rs9906595",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",23251661,{"$nulls":3},5,null,2,0,"FBXO47",1,290,"错义",12220,"1.00=185/185","位于基因组单拷贝区域+DNA结构正常",494188,"17q12|17q12","NM_001008777.2"]
["12307A(99)v20274",7,7,1,"12307A","FCGR2B","chr1:161647533","m.1190A>G(E7)","非编码区","rs844",0.7,0.76,0.77,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",null,"疟疾,易感",null,611162,5,1,1,2,"FCGR2B",1,290,"非编码区",14200,"1.00=8/8","位于基因组多拷贝区域+DNA结构正常",2213,"1q23","NM_001002273.2"]
["12307A(99)v2934",25,25,1,"12307A","FCRL5","chr1:157508882","c.1396C>T(E7)","p.466,V>I","rs6427384",0.69,0.79,0.78,0.8,0.75,0.78,"纯合","无关","有rs号，MAF>=5%",19775371,{"$nulls":3},5,null,6,0,"FCRL5",1,120,"错义",12220,"1.00=36/36","位于基因组多拷贝区域+DNA结构正常",83416,"1q21","NM_001195388.1"]
["12307A(99)v17946",136,74,0.54,"12307A","FER1L6","chr8:125115444","c.5183G>A(E39)","p.1728,C>Y","rs75319208",0.0044,0.022,0.014,0.029,0.026,0.025,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,10,0,"FER1L6",1,200,"错义",12110,"0.54=124/231","位于基因组单拷贝区域+DNA结构正常",654463,"8q24.1","NM_001039112.2"]
["12307A(99)v13883",8,8,1,"12307A","FERMT2","chr14:53324891","m.2454A>C(E16)","非编码区","rs7143400",0.8,0.77,0.79,0.74,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FERMT2",1,270,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",10979,"14q22.1","NM_001134999.1"]
["12307A(99)v24592",71,71,1,"12307A","FGF6","chr12:4553383","c.366A>G(E2)","p.122,T>T","rs2241279",0.48,0.4,0.38,0.43,0.38,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FGF6",1,96,"同义",13203,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",2251,"12p13","NM_020996.1"]
["12307A(99)v13189",141,141,1,"12307A","FGFR2","chr10:123239112","c.2107G>A(E17)","p.703,L>L","rs1047057",0.41,0.38,0.35,0.42,0.43,0.39,"纯合","无关","有rs号，MAF>=5%",null,"Antley-Bixler综合症无生殖畸形或异常类固醇生成2型","AR",207410,5,1,4,11,"FGFR2",1,180,"同义",13203,"1.00=267/267","位于基因组单拷贝区域+DNA结构正常",2263,"10q26","NM_001144915.1"]
["12307A(99)v28220",98,97,0.99,"12307A","FGG","chr4:155525970","m.1519G>A(E9)","非编码区","rs1049636",0.7,0.83,0.82,0.83,null,0.81,"纯合","无关","有rs号，MAF>=5%",null,"先天性异常纤维蛋白原血症/异常低纤维蛋白原血症",null,616004,5,1,1,2,"FGG",1,270,"非编码区",14200,"0.99=166/168","位于基因组单拷贝区域+DNA结构正常",2266,"4q28","NM_021870.2"]
["12307A(99)v9775",196,86,0.44,"12307A","FHL5","chr6:97058547","c.604A>C(E5)","p.202,M>L","rs148496460",0.0006,0.0048,0,0.0097,0.019,8.6E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"FHL5",1,220,"错义",12120,"0.42=146/347","位于基因组单拷贝区域+DNA结构正常",9457,"6q16.1-q16.3","NM_001170807.1"]
["12307A(99)v31001",183,65,0.36,"12307A","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",146700,5,1,65,2,"FLG",1,210,"错义",12220,"0.37=116/313","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016.1"]
["12307A(99)v31012",405,404,1,"12307A","FLG","chr1:152278689","c.8673C>A(E3)","p.2891,V>V","rs57672167",0.4,0.6,0.62,0.58,0.57,0.58,"纯合","无关","有rs号，MAF>=5%",null,"特应性皮炎(湿疹)2型",null,605803,5,1,65,2,"FLG",1,210,"同义",13203,"0.99=739/744","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016.1"]
["12307A(99)v31021",136,60,0.44,"12307A","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",146700,4,1,65,2,"FLG",1,210,"同义",13103,"0.42=103/243","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016.1"]
["12307A(99)v31046",115,114,0.99,"12307A","FLG","chr1:152276871","c.10491A>G(E3)","p.3497,D>D","rs3126066",0.45,0.61,0.62,0.59,0.55,0.59,"纯合","无关","有rs号，MAF>=5%",null,"寻常性鱼鳞病","AD",146700,5,1,65,2,"FLG",1,210,"同义",13203,"0.99=177/178","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016.1"]
["12307A(99)v21776",122,54,0.44,"12307A","FLJ44635","chrX:71379881","c.202G>A(E2)","p.68,E>K","rs6624600",null,0.94,0.93,0.96,0.94,0.95,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"FLJ44635",1,190,"错义",12310,"0.43=89/205","位于基因组多拷贝区域+DNA结构正常",392490,"Xq13.1","NM_207422.2"]
["12307A(99)v31599",57,30,0.53,"12307A","FLNA","chrX:153582311","c.5658G>A(E35)","p.1886,F>F","rs182894587",null,0.0031,0,6.3E-3,0.0039,0.0042,"杂合","未知","预测范围之外的同义突变",null,"X-连锁心脏瓣膜发育不良","XR",314400,4,3,2,11,"FLNA",1,43,"同义",13303,"0.51=55/108","位于基因组单拷贝区域+DNA结构正常",2316,"Xq28","NM_001110556.1"]
["12307A(99)v29154",39,18,0.46,"12307A","FLNB","chr3:58109162","c.3469G>A(E21)","p.1157,D>N","rs1131356",0.55,0.89,0.91,0.87,0.85,0.91,"杂合","无关","有rs号，MAF>=5%",null,"骨发育不全3型","AD",108721,5,1,11,5,"FLNB",1,130,"错义",12210,"0.46=32/70","位于基因组单拷贝区域+DNA结构正常",2317,"3p14.3","NM_001164317.1"]
["12307A(99)v15787",3,2,0.67,"12307A","FLRT1","chr11:63884453","c.714C>T(E2)","p.238,R>R","rs3751120",0.35,0.54,0.57,0.51,0.36,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FLRT1",1,16,"同义",13203,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",23769,"11q12-q13","NM_013280.4"]
["12307A(99)v14316",148,148,1,"12307A","FLT3","chr13:28610183","IVS10-3A>G","剪切位点","rs2491231",0.56,0.73,0.72,0.73,0.8,0.74,"纯合","无关","有rs号，MAF>=5%",null,"急性髓性白血病","AD",601626,5,1,3,2,"FLT3",1,290,"剪切位点",16202,"1.00=276/276","位于基因组单拷贝区域+DNA结构正常",2322,"13q12","NM_004119.2"]
["12307A(99)v8944",9,9,1,"12307A","FN1","chr2:216300482","c.44T>A(E1)","p.15,Q>L","rs1250259",0.8,0.95,0.95,0.96,0.79,0.92,"纯合","无关","有rs号，MAF>=5%",null,"血浆纤维结合蛋白缺乏症",null,614101,5,1,7,2,"FN1",1,180,"错义",12220,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",2335,"2q34","NM_002026.2"]
["12307A(99)v12037",73,73,1,"12307A","FNBP1","chr9:132686186","c.1107A>G(E10)","p.369,H>H","rs4836680",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FNBP1",0.99,210,"同义",13203,"1.00=120/120","位于基因组单拷贝区域+DNA结构正常",23048,"9q34","NM_015033.2"]
["12307A(99)v21852",33,13,0.39,"12307A","FOXA3","chr19:46375779","c.516C>T(E2)","p.172,N>N","rs16980091",0.23,0.38,0.4,0.37,0.37,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FOXA3",1,38,"同义",13203,"0.40=20/50","位于基因组多拷贝区域+DNA结构正常",3171,"19q13.2-q13.4","NM_004497.2"]
["12307A(99)v18111",2,2,1,"12307A","FOXP2","chr7:113796579","otherG>C","非编码区","rs13232399",0.6,0.58,0.58,0.58,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",602081,5,1,14,1,"FOXP2",1,250,"非编码区",17000,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",93986,"7q31","NM_001172766.2"]
["12307A(99)v24012",135,60,0.44,"12307A","FRAS1","chr4:78987157","c.95A>G(E2)","p.32,D>G","rs4859905",0.55,0.56,0.56,0.56,0.44,0.5,"杂合","无关","有rs号，MAF>=5%",null,"Fraser综合征","AR",219000,5,3,15,1,"FRAS1",1,160,"错义",12220,"0.41=98/241","位于基因组单拷贝区域+DNA结构正常",80144,"4q21.21","NM_001166133.1"]
["12307A(99)v15403",70,38,0.54,"12307A","FREM1","chr9:14859356","c.456T>C(E5)","p.152,Q>Q","rs10961757",0.25,0.54,0.53,0.54,0.53,0.56,"杂合","无关","有rs号，MAF>=5%",null,"Manitoba Oculotrichoanal综合征","AR",248450,5,3,10,3,"FREM1",1,200,"同义",13203,"0.56=62/110","位于基因组单拷贝区域+DNA结构正常",158326,"9p22.3","NM_144966.5"]
["12307A(99)v29553",81,81,1,"12307A","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",219000,5,1,8,1,"FREM2",0.98,150,"错义",12220,"0.99=139/140","位于基因组单拷贝区域+DNA结构正常",341640,"13q13.3","NM_207361.4"]
["12307A(99)v22335",52,52,1,"12307A","FRMD1","chr6:168467516","IVS3-5T>C","剪切位点","rs117858331",0.0062,0.029,0.024,0.034,0.022,0.022,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,8,0,"FRMD1",0.88,24,"剪切位点",16102,"0.99=81/82","位于基因组单拷贝区域+DNA结构正常",79981,"6q27","NM_001122841.1"]
["12307A(99)v19343",120,120,1,"12307A","FRMPD1","chr9:37707441","c.130G>A(E3)","p.44,A>T","rs2296556",0.12,0.39,0.39,0.39,0.37,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FRMPD1",1,120,"错义",12220,"1.00=194/194","位于基因组单拷贝区域+DNA结构正常",22844,"9p13.2","NM_014907.2"]
["12307A(99)v21580",38,16,0.42,"12307A","FTSJ3","chr17:61902082","c.832C>T(E10)","p.278,E>K","rs115809493",0.0012,0.0096,0,0.019,0.01,0.0061,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"FTSJ3",1,130,"错义",12120,"0.39=22/56","位于基因组单拷贝区域+DNA结构正常",117246,"17q23.3","NM_017647.3"]
["12307A(99)v636",3,3,1,"12307A","FUS","chr16:31191482","m.52A>G(E1)","非编码区","rs929867",0.94,1,1,1,0.74,1,"纯合","无关","有rs号，MAF>=5%",null,"肌萎缩侧索硬化症6型",null,608030,5,1,2,2,"FUS",1,120,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",2521,"16p11.2","NM_001170634.1"]
["12307A(99)v24831",29,13,0.45,"12307A","GAA","chr17:78093133","m.3229G>A(E20)","非编码区","rs1800317",0.1,0.087,0.12,0.053,0.066,0.092,"杂合","无关","有rs号，MAF>=5%",null,"庞贝氏症(Pompe)","AR",232300,5,3,2,1,"GAA",0.99,26,"非编码区",14200,"0.40=19/48","位于基因组单拷贝区域+DNA结构正常",2548,"17q25.2-q25.3","NM_000152.3"]
["12307A(99)v5484",209,99,0.47,"12307A","GABRA2","chr4:46334702","IVS3-3A>G","剪切位点","rs279827",0.41,0.55,0.59,0.5,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",null,"酒精依赖症",null,103780,5,2,3,1,"GABRA2",1,300,"剪切位点",16202,"0.48=185/389","位于基因组单拷贝区域+DNA结构正常",2555,"4p12","NM_000807.2"]
["12307A(99)v16218",173,76,0.44,"12307A","GADL1","chr3:30827904","IVS12-6A>G","剪切位点","rs6550024",0.35,0.48,0.49,0.48,0.53,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GADL1",1,330,"剪切位点",16202,"0.44=135/305","位于基因组单拷贝区域+DNA结构正常",339896,"3p24.1-p23","NM_207359.2"]
["12307A(99)v25249",10,5,0.5,"12307A","GALNT2","chr1:230415244","m.1828T>C(E16)","非编码区","rs2273968",0.23,0.46,0.5,0.42,null,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GALNT2",1,120,"非编码区",14200,"0.50=6/12","位于基因组单拷贝区域+DNA结构正常",2590,"1q41-q42","NM_004481.3"]
["12307A(99)v11748",101,41,0.41,"12307A","GAS6","chr13:114531565","c.1263C>G(E11)","p.421,L>L","rs8191975",0.18,0.19,0.21,0.17,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GAS6",0.83,42,"同义",13203,"0.42=72/171","位于基因组单拷贝区域+DNA结构正常",2621,"13q34","NM_000820.2"]
["12307A(99)v25992",9,9,1,"12307A","GATA3","chr10:8116079","m.1985C>T(E6)","非编码区","rs2229360",0.071,0.24,0.25,0.23,null,null,"纯合","无关","有rs号，MAF>=5%",null,"甲状旁腺功能减退症、神经性耳聋、肾脏疾病综合征","AD",146255,5,1,1,1,"GATA3",1,81,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",2625,"10p15","NM_001002295.1"]
["12307A(99)v21395",109,108,0.99,"12307A","GBP2","chr1:89582690","c.853G>C(E6)","p.285,P>A","rs1803632",0.63,0.78,0.79,0.78,0.78,0.78,"纯合","无关","有rs号，MAF>=5%","20459687;24934404",{"$nulls":3},5,null,2,0,"GBP2",1,220,"错义",12220,"0.99=177/179","位于基因组单拷贝区域+DNA结构正常",2634,"1p22.2","NM_004120.3"]
["12307A(99)v15646",3,3,1,"12307A","GCNT1","chr9:79118661","m.1807A>G(E3)","非编码区","rs1057419",0.69,0.83,0.84,0.82,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GCNT1",1,110,"非编码区",14200,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",2650,"9q13","NM_001097633.1"]
["12307A(99)v8144",14,7,0.5,"12307A","GDF15","chr19:18497024","c.25G>C(E1)","p.9,V>L","rs1059519",0.71,0.74,0.75,0.72,0.63,0.66,"杂合","无关","有rs号，MAF>=5%",19505919,{"$nulls":3},5,null,1,0,"GDF15",0.62,11,"错义",12220,"0.40=8/20","位于基因组单拷贝区域+DNA结构正常",9518,"19p13.11","NM_004864.2"]
["12307A(99)v16189",58,58,1,"12307A","GEN1","chr2:17962450","c.1971A>G(E14)","p.657,E>E","rs300168",0.57,0.92,0.92,0.92,0.9,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"GEN1",1,250,"同义",13203,"1.00=90/90","位于基因组单拷贝区域+DNA结构正常",348654,"2p24.2","NM_001130009.1"]
["12307A(99)v10120",2,1,0.5,"12307A","GGH","chr8:63951312","c.16A>G(E1)","p.6,C>R","rs1800909",0.23,0.19,0.18,0.2,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",17286537,{"$nulls":3},5,null,3,0,"GGH",1,330,"错义",12220,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",8836,"8q12.3","NM_003878.2"]
["12307A(99)v25389",132,69,0.52,"12307A","GIGYF2","chr2:233660846","c.1554G>A(E14)","p.518,E>E","rs2305138",0.11,0.19,0.2,0.17,0.18,0.19,"杂合","无关","有rs号，MAF>=5%","18358451;18923002;19279319","帕金森病11型",null,607688,5,2,5,1,"GIGYF2",1,220,"同义",13203,"0.52=118/229","位于基因组单拷贝区域+DNA结构正常",26058,"2q37.1","NM_001103146.1"]
["12307A(99)v6451",45,24,0.53,"12307A","GIMAP7","chr7:150217309","c.247C>T(E2)","p.83,R>C","rs3735080",0.17,0.16,0.16,0.16,0.14,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"GIMAP7",1,93,"错义",12210,"0.54=48/89","位于基因组单拷贝区域+DNA结构正常",168537,"7q36.1","NM_153236.3"]
["12307A(99)v14480",6,6,1,"12307A","GJB2","chr13:20762956","m.980A>G(E2)","非编码区","rs3751385",0.69,0.57,0.6,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",null,"残毁性掌跖角皮病","AD",124500,5,1,1,7,"GJB2",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",2706,"13q11-q12","NM_004004.5"]
["12307A(99)v26880",8,1,0.12,"12307A","GLI2","chr2:121745842","c.2352G>T(E13)","p.784,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"Pallister-Hall综合征2型","AD",615849,4,1,5,2,"GLI2",0.88,31,"同义",13403,"0.09=1/11","位于基因组单拷贝区域+DNA结构正常",2736,"2q14","NM_005270.4"]
["12307A(99)v14717",1,1,1,"12307A","GLRX5","chr14:96010810","m.926A>G(E2)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",null,"铁粒幼细胞性贫血伴维生素B6不耐受/常染色体隐性遗传的吡哆醇难治性铁粒幼细胞性贫血","AR",205950,3,1,1,1,"GLRX5",1,110,"非编码区",14400,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",51218,"14q32.13","NM_016417.2"]
["12307A(99)v30160",143,56,0.39,"12307A","GLYATL3","chr6:49489397","c.353C>A(E5)","p.118,A>D","rs9369905",0.18,0.2,0.19,0.2,0.17,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GLYATL3",1,240,"错义",12210,"0.39=96/247","位于基因组单拷贝区域+DNA结构正常",389396,"6p12.3","NM_001010904.1"]
["12307A(99)v29698",25,25,1,"12307A","GMEB2","chr20:62227081","c.501A>G(E6)","p.167,H>H","rs311489",0.83,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GMEB2",0.97,36,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",26205,"20q13.33","NM_012384.3"]
["12307A(99)v8415",1,1,1,"12307A","GNAS","chr20:57415110","m.316A>G(E1)","非编码区","rs1800900",0.6,0.81,0.79,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",null,"假性甲状旁腺功能减退症1b型","AD",603233,5,1,2,8,"GNAS",0.94,61,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",2778,"20q13.3","NM_016592.2"]
["12307A(99)v27626",39,5,0.13,"12307A","GNRH2","chr20:3026345-3026346","c.326(E4)至c.327(E4):插入GCCCC","插入移码","rs16996832",0.15,0.25,0.21,0.3,0.077,0,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,3,0,"GNRH2",1,27,"插入移码",2120,"0.13=5/39","位于基因组单拷贝区域+DNA结构正常",2797,"20p13","NM_001501.1"]
["12307A(99)v31798",1,1,1,"12307A","GOLGA8B","chr15:34853606","otherA>G","非编码区","rs144579309",{"$nulls":6},"纯合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,3,0,"GOLGA8B",1,160,"非编码区",17000,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",440270,"15q14","NM_001023567.4"]
["12307A(99)v11144",4,1,0.25,"12307A","GOSR2","chr17:45017645","m.2231T>C(E6)","非编码区","rs4968286",0.46,0.58,0.58,0.58,null,null,"杂合","无关","有rs号，MAF>=5%",null,"进行性肌阵挛性癫痫6型","AR",614018,5,3,5,1,"GOSR2",1,160,"非编码区",14200,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",9570,"17q21","NM_004287.3"]
["12307A(99)v12751",3,3,1,"12307A","GPATCH2L","chr14:76668356","m.1697A>G(E10)","非编码区","rs2166322",0.58,0.72,0.7,0.74,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPATCH2L",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",55668,"14q24.3","NM_017926.2"]
["12307A(99)v7724",82,34,0.41,"12307A","GPR111","chr6:47649573","c.1074C>T(E7)","p.358,S>S","rs10807371",0.51,0.31,0.33,0.28,0.28,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"GPR111",1,130,"同义",13203,"0.37=45/122","位于基因组单拷贝区域+DNA结构正常",222611,"6p12.3","NM_153839.6"]
["12307A(99)v7728",79,38,0.48,"12307A","GPR111","chr6:47649222","c.723T>G(E7)","p.241,S>S","rs8180544",{"$nulls":4},0.28,0.3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"GPR111",1,130,"同义",13303,"0.54=63/117","位于基因组单拷贝区域+DNA结构正常",222611,"6p12.3","NM_153839.6"]
["12307A(99)v8993",2,2,1,"12307A","GPR132","chr14:105515800","m.3573A>G(E4)","非编码区","rs45440496",0.11,0.22,0.24,0.19,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GPR132",1,45,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",29933,"14q32.3","NM_013345.2"]
["12307A(99)v8299",8,1,0.12,"12307A","GPR153","chr1:6311449","c.928C>T(E4)","p.310,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,4,0,"GPR153",0.65,21,"错义",12420,"0.12=2/17","位于基因组单拷贝区域+DNA结构正常",387509,"1p36.31","NM_207370.2"]
["12307A(99)v18910",55,55,1,"12307A","GPR56","chr16:57689883","c.996T>C(E8)","p.332,T>T","rs1376041",0.82,0.81,0.79,0.84,0.79,0.81,"纯合","无关","有rs号，MAF>=5%",null,"双侧额叶多小脑回畸形","AR",606854,5,1,6,2,"GPR56",1,51,"同义",13203,"1.00=80/80","位于基因组单拷贝区域+DNA结构正常",9289,"16q13","NM_001145770.1"]
["12307A(99)v18779",9,1,0.11,"12307A","GPR6","chr6:110300683","c.368G>A(E1)","p.123,C>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,1,0,"GPR6",0.9,9.8,"错义",12420,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",2830,"6q21","NM_005284.3"]
["12307A(99)v21140",121,59,0.49,"12307A","GPRC6A","chr6:117130704","c.271G>A(E2)","p.91,P>S","rs2274911",0.69,0.53,0.5,0.57,0.57,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"GPRC6A",1,160,"错义",12220,"0.49=97/196","位于基因组单拷贝区域+DNA结构正常",222545,"6q22.1","NM_148963.2"]
["12307A(99)v17540",2,2,1,"12307A","GPRIN2","chr10:46998894","c.14G>A(E3)","p.5,R>H","rs3127817",{"$nulls":4},0.41,0.5,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,16,0,"GPRIN2",0.96,12,"错义",12320,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",9721,"10q11.22","NM_014696.3"]
["12307A(99)v31701",15,7,0.47,"12307A","GRAMD3","chr5:125695874","m.87C>G(E1)","非编码区","rs77944663",0.14,0.26,0.22,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GRAMD3",1,230,"非编码区",14200,"0.42=8/19","位于基因组单拷贝区域+DNA结构正常",65983,"5q23.2","NM_001146319.1"]
["12307A(99)v15746",241,241,1,"12307A","GRIA2","chr4:158238830","c.687T>C(E5)","p.229,H>H","rs4302506",0.66,0.83,0.81,0.84,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",22057216,{"$nulls":3},5,null,1,0,"GRIA2",1,290,"同义",13203,"1.00=477/478","位于基因组单拷贝区域+DNA结构正常",2891,"4q32.1","NM_000826.3"]
["12307A(99)v16310",67,37,0.55,"12307A","GRK1","chr13:114323997","otherT>C","非编码区","rs9796234",0.48,0.65,0.65,0.65,0.6,0.65,"杂合","无关","突变在基因上，但不属于任何转录变体",null,"先天性静止性夜盲症Oguchi2型",null,613411,5,2,2,1,"GRK1",0.58,57,"非编码区",17000,"0.56=65/116","位于基因组单拷贝区域+DNA结构正常",6011,"13q34","NM_002929.2"]
["12307A(99)v26868",69,29,0.42,"12307A","GRM7","chr3:7620828","c.2235G>A(E8)","p.745,G>G","rs1485174",0.17,0.16,0.15,0.16,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"GRM7",1,140,"同义",13203,"0.38=42/110","位于基因组单拷贝区域+DNA结构正常",2917,"3p26.1-p25.1","NM_000844.3"]
["12307A(99)v16386",207,99,0.48,"12307A","GSTA2","chr6:52622755","m.141C>G(E2)","非编码区","rs1803684",0.2,0.15,0.14,0.17,null,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GSTA2",1,410,"非编码区",14200,"0.49=189/384","位于基因组多拷贝区域+DNA结构正常",2939,"6p12.1","NM_000846.4"]
["12307A(99)v26946",238,61,0.26,"12307A","GTF2I","chr7:74167490","c.2556C>T(E28)","p.852,D>D","rs373607978",{"$nulls":4},0.053,0.077,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"GTF2I",1,310,"同义",13303,"0.24=105/435","位于基因组多拷贝区域+DNA结构正常",2969,"7q11.23","NM_001163636.1"]
["12307A(99)v9855",24,24,1,"12307A","GTSE1","chr22:46722400","c.1573T>C(E9)","p.525,W>R","rs140054",0.97,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",19139070,{"$nulls":3},5,null,1,0,"GTSE1",1,91,"错义",12230,"1.00=38/38","位于基因组单拷贝区域+DNA结构正常",51512,"22q13.2-q13.3","NM_016426.6"]
["12307A(99)v10459",177,75,0.42,"12307A","GYS2","chr12:21713402","c.1087T>C(E8)","p.363,M>V","rs2306180",0.74,0.74,0.76,0.71,0.71,0.75,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症0型(肝)","AR",240600,5,3,1,1,"GYS2",1,290,"错义",12220,"0.43=141/325","位于基因组单拷贝区域+DNA结构正常",2998,"12p12.2","NM_021957.3"]
["12307A(99)v30624",16,8,0.5,"12307A","H1FX","chr3:129034578","c.168G>A(E1)","p.56,I>I","rs78450275",0.066,0.28,0.3,0.26,0.22,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"H1FX",0.96,11,"同义",13203,"0.56=18/32","位于基因组单拷贝区域+DNA结构正常",8971,"3q21.3","NM_006026.3"]
["12307A(99)v27182",28,16,0.57,"12307A","HAX1","chr1:154245142","m.104T>G(E1)","非编码区","rs11265425",0.21,{"$nulls":3},0.43,null,"杂合","无关","有rs号，MAF>=5%",null,"先天性严重嗜中性粒细胞减少症3型","AR",610738,5,3,1,1,"HAX1",1,190,"非编码区",14200,"0.61=25/41","位于基因组单拷贝区域+DNA结构正常",10456,"1q21.3","NM_001018837.1"]
["12307A(99)v28506",101,101,1,"12307A","HCAR3","chr12:123200937","c.348T>G(E1)","p.116,I>I","rs1696352",0.46,0.55,0.48,0.61,0.68,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"HCAR3",1,120,"同义",13203,"1.00=173/173","位于基因组多拷贝区域+DNA结构正常",8843,"12q24.31","NM_006018.2"]
["12307A(99)v18388",9,7,0.78,"12307A","HDHD3","chr9:116136473","c.162C>A(E2)","p.54,R>S","rs75660101",0.005,0.017,0.014,0.019,0.021,0.023,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"HDHD3",1,40,"错义",12120,"0.62=8/13","位于基因组单拷贝区域+DNA结构正常",81932,"9q32","NM_031219.2"]
["12307A(99)v21914",157,157,1,"12307A","HEATR1","chr1:236748505","c.2061T>C(E17)","p.687,L>L","rs1006456",0.52,0.65,0.67,0.63,0.63,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,26,0,"HEATR1",1,270,"同义",13203,"1.00=282/282","位于基因组单拷贝区域+DNA结构正常",55127,"1q43","NM_018072.5"]
["12307A(99)v10307",45,19,0.42,"12307A","HECTD1","chr14:31598301","c.4276T>C(E25)","p.1426,I>V","rs75345169",0.0068,0.043,0.048,0.039,0.034,0.044,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"HECTD1",1,260,"错义",12120,"0.46=36/78","位于基因组单拷贝区域+DNA结构正常",25831,"14q12","NM_015382.2"]
["12307A(99)v22682",129,129,1,"12307A","HELLS","chr10:96313960","c.231A>C(E3)","p.77,I>I","rs11188019",0.53,0.75,0.79,0.71,0.77,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HELLS",1,310,"同义",13203,"1.00=233/233","位于基因组单拷贝区域+DNA结构正常",3070,"10q24.2","NM_018063.3"]
["12307A(99)v8315",36,11,0.31,"12307A","HERC2","chr15:28517436","c.1008T>C(E9)","p.336,P>P","rs75181529",{"$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",615516,4,3,11,2,"HERC2",0.98,180,"同义",13303,"0.31=23/75","位于基因组多拷贝区域+DNA结构正常",8924,"15q13","NM_004667.5"]
["12307A(99)v2913",18,18,1,"12307A","HEY1","chr8:80677264","m.1286T>A(E5)","非编码区","rs2467789",0.81,0.78,0.83,0.73,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HEY1",1,92,"非编码区",14200,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",23462,"8q21","NM_001040708.1"]
["12307A(99)v13793",40,19,0.47,"12307A","HHAT","chr1:210577873","c.534G>C(E6)","p.178,L>L","rs2066721",0.76,0.63,0.64,0.63,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"HHAT",0.94,110,"同义",13203,"0.48=31/65","位于基因组单拷贝区域+DNA结构正常",55733,"1q32","NM_001122834.2"]
["12307A(99)v30701",95,46,0.48,"12307A","HIF1AN","chr10:102296188","c.198C>T(E2)","p.66,D>D","rs11553944",0.012,0.06,0.071,0.049,0.075,0.063,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"HIF1AN",1,160,"同义",13103,"0.46=73/157","位于基因组单拷贝区域+DNA结构正常",55662,"10q24","NM_017902.2"]
["12307A(99)v3649",53,25,0.47,"12307A","HIST1H1C","chr6:26056072","c.585G>C(E1)","p.195,P>P","rs8384",0.12,0.16,0.17,0.16,0.13,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HIST1H1C",1,72,"同义",13203,"0.49=52/107","位于基因组单拷贝区域+DNA结构正常",3006,"6p21.3","NM_005319.3"]
["12307A(99)v31285",5,2,0.4,"12307A","HIVEP3","chr1:42414686","otherA>G","非编码区","rs10789411",0.46,0.71,0.71,0.7,null,null,"杂合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,14,0,"HIVEP3",1,50,"非编码区",17000,"0.50=4/8","位于基因组多拷贝区域+DNA结构正常",59269,"1p34","NM_001127714.2"]
["12307A(99)v31447",80,33,0.41,"12307A","HKDC1","chr10:70992664","c.371C>T(E3)","p.124,T>I","rs874556",0.53,0.75,0.77,0.72,0.76,0.77,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,4,0,"HKDC1",0.98,99,"错义",12210,"0.42=52/123","位于基因组单拷贝区域+DNA结构正常",80201,"10q22.1","NM_025130.3"]
["12307A(99)v23193",46,25,0.54,"12307A","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,"强直性脊柱炎易感1型",null,106300,5,2,16,2,"HLA-B",0.91,36,"同义",13203,"0.56=39/70","位于基因组多拷贝区域+DNA结构正常",3106,"6p21.3","NM_005514.6"]
["12307A(99)v3541",2,2,1,"12307A","HLA-C","chr6:31239802","c.47C>G(E1)","p.16,G>A","rs1050451",null,0.78,0.74,0.82,0.72,0.82,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"银屑病易感1型",null,177900,3,1,24,2,"HLA-C",1,31,"错义",12320,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",3107,"6p21.3","NM_002117.5"]
["12307A(99)v3554",30,5,0.17,"12307A","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,177900,2,2,24,2,"HLA-C",1,31,"错义",12110,"0.15=8/54","位于基因组多拷贝区域+DNA结构正常",3107,"6p21.3","NM_002117.5"]
["12307A(99)v28538",11,3,0.27,"12307A","HLA-DQB1","chr6:32632744","c.210C>T(E2)","p.70,A>A","rs1049082",0.37,0.47,0.5,0.44,0.41,0.48,"杂合","无关","有rs号，MAF>=5%",null,"Creutzfeldt-Jakob病","AD",123400,5,1,27,3,"HLA-DQB1",0.99,84,"同义",13203,"0.35=6/17","位于基因组多拷贝区域+DNA结构正常",3119,"6p21.3","NM_001243961.1"]
["12307A(99)v28557",130,130,1,"12307A","HLA-DQB1","chr6:32629847","c.558A>G(E3)","p.186,T>T","rs1049133",0.83,0.89,0.91,0.87,0.84,0.9,"纯合","无关","有rs号，MAF>=5%",null,"Creutzfeldt-Jakob病","AD",123400,5,1,27,3,"HLA-DQB1",0.99,84,"同义",13203,"1.00=236/236","位于基因组多拷贝区域+DNA结构正常",3119,"6p21.3","NM_001243961.1"]
["12307A(99)v7203",151,23,0.15,"12307A","HLA-DRB1","chr6:32549540","c.446C>T(E3)","p.149,S>N","rs74626234",{"$nulls":4},0.23,0.23,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"多发性硬化症（易感）",null,126200,3,2,18,3,"HLA-DRB1",1,140,"错义",12320,"0.13=35/268","位于基因组多拷贝区域+DNA结构正常",3123,"6p21.3","NM_002124.3"]
["12307A(99)v7208",68,43,0.63,"12307A","HLA-DRB1","chr6:32548026","c.785G>C(E5)","p.262,T>R",{"$nulls":5},0.27,0.39,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"多发性硬化症（易感）",null,126200,3,2,18,3,"HLA-DRB1",1,140,"错义",12420,"0.67=90/135","位于基因组多拷贝区域+DNA结构正常",3123,"6p21.3","NM_002124.3"]
["12307A(99)v28172",13,1,0.08,"12307A","HLA-E","chr6:30459100","c.797C>T(E4)","p.266,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,"HLA-E",0.78,18,"错义",12410,"0.20=4/20","位于基因组多拷贝区域+DNA结构正常",3133,"6p21.3","NM_005516.5"]
["12307A(99)v3600",2,1,0.5,"12307A","HMGXB3","chr5:149432039","m.4739C>G(E20)","非编码区","rs216134",0.8,0.78,0.81,0.76,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"HMGXB3",1,120,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",22993,"5q32","NM_014983.2"]
["12307A(99)v25514",151,92,0.61,"12307A","HNRNPCL1","chr1:12907837","c.306C>T(E2)","p.102,A>A","rs1736811",0.0074,0,0,0,0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"HNRNPCL1",1,230,"同义",13103,"0.59=152/256","位于基因组多拷贝区域+DNA结构正常",343069,"1p36.21","NM_001013631.1"]
["12307A(99)v5784",54,54,1,"12307A","HOXA7","chr7:27196069","c.96A>C(E1)","p.32,A>A","rs2301720",0.77,0.88,0.9,0.86,0.85,0.86,"纯合","无关","有rs号，MAF>=5%",18389087,{"$nulls":3},5,null,3,0,"HOXA7",1,61,"同义",13203,"1.00=84/84","位于基因组单拷贝区域+DNA结构正常",3204,"7p15.2","NM_006896.3"]
["12307A(99)v13246",7,1,0.14,"12307A","HR","chr8:21978734","c.2211G>T(E10)","p.737,P>P","rs77689228",{"$nulls":4},2E-3,null,"杂合","未知","预测范围之外的同义突变",null,"先天性普秃","AR",203655,4,3,1,3,"HR",0.88,22,"同义",13303,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",55806,"8p21.2","NM_005144.4"]
["12307A(99)v2768",23,8,0.35,"12307A","HRH1","chr3:11300707","m.175T>C(E3)","非编码区","rs901865",0.82,0.92,0.9,0.93,null,0.93,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HRH1",1,120,"非编码区",14200,"0.31=11/36","位于基因组单拷贝区域+DNA结构正常",3269,"3p25","NM_000861.3"]
["12307A(99)v521",55,55,1,"12307A","HS2ST1","chr1:87570398","m.1475G>A(E7)","非编码区","rs1621247",0.71,0.96,0.98,0.95,null,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"HS2ST1",1,280,"非编码区",14200,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",9653,"1p22.3","NM_012262.3"]
["12307A(99)v14593",306,2,0.01,"12307A","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,2,0,"HSP90B1",1,230,"缺失非移码",2232,"0.01=2/354","位于基因组单拷贝区域+简单重复结构",7184,"12q24.2-q24.3","NM_003299.2"]
["12307A(99)v15627",34,17,0.5,"12307A","HSPG2","chr1:22154845","c.12312A>G(E89)","p.4104,D>D","rs2228347",0.26,0.15,0.15,0.15,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",null,"Schwartz-Jampel综合征1（软骨营养障碍性肌强直）","AR",255800,5,3,20,2,"HSPG2",0.99,27,"同义",13203,"0.50=27/54","位于基因组单拷贝区域+DNA结构正常",3339,"1p36.1-p34","NM_005529.5"]
["12307A(99)v30168",56,22,0.39,"12307A","HTR1B","chr6:78172992","c.129G>A(E1)","p.43,S>S","rs6298",0.34,0.55,0.54,0.55,0.5,0.49,"杂合","无关","有rs号，MAF>=5%","19829169;21937687",{"$nulls":3},5,null,2,0,"HTR1B",1,75,"同义",13203,"0.38=33/86","位于基因组单拷贝区域+DNA结构正常",3351,"6q13","NM_000863.1"]
["12307A(99)v28487",237,236,1,"12307A","HTR3C","chr3:183774762","c.489C>A(E5)","p.163,N>K","rs6766410",0.46,0.64,0.66,0.62,0.6,0.64,"纯合","无关","有rs号，MAF>=5%",19035560,{"$nulls":3},5,null,3,0,"HTR3C",1,170,"错义",12210,"1.00=419/420","位于基因组单拷贝区域+DNA结构正常",170572,"3q27.1","NM_130770.2"]
["12307A(99)v29421",186,186,1,"12307A","HYDIN","chr16:70993566","c.6126A>G(E39)","p.2042,H>H","rs1774266",0.44,0.36,0.43,0.29,0.71,0.0013,"纯合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍5型","AR",608647,5,1,61,1,"HYDIN",1,380,"同义",13203,"1.00=343/343","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974.1"]
["12307A(99)v29436",62,25,0.4,"12307A","HYDIN","chr16:70954513","c.7766T>C(E46)","p.2589,K>R","rs1774395",{"$nulls":4},0.47,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"原发性纤毛运动障碍5型","AR",608647,3,3,61,1,"HYDIN",1,380,"错义",12320,"0.40=39/97","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974.1"]
["12307A(99)v29307",47,22,0.47,"12307A","ICOSLG","chr21:45648880","m.1080C>T(E7)","非编码区","rs55769116",0.095,0.17,0.19,0.15,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ICOSLG",0.98,73,"非编码区",14200,"0.57=51/89","位于基因组单拷贝区域+DNA结构正常",23308,"21q22.3","NM_015259.4"]
["12307A(99)v15124",7,1,0.14,"12307A","IDUA","chr4:995920","c.943G>A(E7)","p.315,D>N",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"粘多糖贮积症I-H型/Hurler综合征","AR",607014,2,3,7,3,"IDUA",0.75,20,"错义",12410,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",3425,"4p16.3","NM_000203.3"]
["12307A(99)v11706",42,42,1,"12307A","IFITM1","chr11:314207","c.37C>G(E1)","p.13,P>A","rs9667990",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"IFITM1",1,83,"错义",12230,"1.00=72/72","位于基因组多拷贝区域+DNA结构正常",8519,"11p15.5","NM_003641.3"]
["12307A(99)v30116",146,72,0.49,"12307A","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%",{"$nulls":4},5,null,7,0,"IFNA17",1,380,"错义",12220,"0.52=121/233","位于基因组多拷贝区域+DNA结构正常",3451,"9p22","NM_021268.2"]
["12307A(99)v19608",93,41,0.44,"12307A","IFNAR2","chr21:34614255","c.28T>G(E2)","p.10,F>V","rs1051393",0.39,0.63,0.64,0.62,0.58,0.58,"杂合","无关","有rs号，MAF>=5%","19356949;19434718;20811626","乙型肝炎病毒易感",null,610424,5,2,2,1,"IFNAR2",1,180,"错义",12220,"0.42=63/150","位于基因组单拷贝区域+DNA结构正常",3455,"21q22.11","NM_000874.3"]
["12307A(99)v25665",47,47,1,"12307A","IGFBP5","chr2:217541582","c.711T>C(E4)","p.237,K>K","rs2160549",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"IGFBP5",0.68,35,"同义",13203,"1.00=81/81","位于基因组单拷贝区域+DNA结构正常",3488,"2q33-q36","NM_000599.3"]
["12307A(99)v9610",19,10,0.53,"12307A","IGFN1","chr1:201182652","c.8631C>T(E12)","p.2877,D>D","rs77327584",0.0082,0.041,0.029,0.053,0.041,0.03,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,24,0,"IGFN1",1,130,"同义",13103,"0.54=15/28","位于基因组单拷贝区域+DNA结构正常",91156,"1q32.1","NM_001164586.1"]
["12307A(99)v16096",22,13,0.59,"12307A","IGSF3","chr1:117142613","c.1979C>T(E7)","p.660,R>Q","rs76151115",{"$nulls":4},0.4,0.054,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"泪管缺陷","AR",149700,3,3,21,1,"IGSF3",1,79,"错义",12320,"0.55=17/31","位于基因组多拷贝区域+DNA结构正常",3321,"1p13","NM_001007237.1"]
["12307A(99)v21705",156,65,0.42,"12307A","IGSF5","chr21:41165462","c.1050C>A(E8)","p.350,D>E","rs2837225",0.45,0.46,0.41,0.5,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"IGSF5",1,130,"错义",12220,"0.43=120/281","位于基因组单拷贝区域+DNA结构正常",150084,"21q22.2","NM_001080444.1"]
["12307A(99)v25212",63,36,0.57,"12307A","IL13RA1","chrX:117925898","m.1408A>G(E11)","非编码区","rs2495636",null,0.5,0.5,0.51,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"IL13RA1",0.98,340,"非编码区",14300,"0.56=52/93","位于基因组单拷贝区域+DNA结构正常",3597,"Xq24","NM_001560.2"]
["12307A(99)v5452",138,64,0.46,"12307A","IL17RB","chr3:53883722","c.126C>G(E3)","p.42,P>P","rs1025689",0.43,0.51,0.48,0.54,0.47,0.48,"杂合","无关","有rs号，MAF>=5%","18454203;22377791",{"$nulls":3},5,null,2,0,"IL17RB",0.96,200,"同义",13203,"0.46=119/258","位于基因组单拷贝区域+DNA结构正常",55540,"3p21.1","NM_018725.3"]
["12307A(99)v13580",32,32,1,"12307A","IL3","chr5:131396478","c.79C>T(E1)","p.27,P>S","rs40401",0.42,0.53,0.5,0.56,0.48,0.52,"纯合","无关","有rs号，MAF>=5%","17327408;17705862;18194558;18633131;18804346;18829683;19262575;19356949;20015396;20332709;21224257;23953855;24357513;24684517;24895604",{"$nulls":3},5,null,1,0,"IL3",1,140,"错义",12210,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",3562,"5q31.1","NM_000588.3"]
["12307A(99)v16683",10,10,1,"12307A","IL6R","chr1:154437896","m.1884T>C(E10)","非编码区","rs2229238",0.8,0.87,0.85,0.89,0.9,0.85,"纯合","无关","有rs号，MAF>=5%",null,"血清白介素6数量性状位点",null,614752,5,1,3,2,"IL6R",0.87,83,"非编码区",14200,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",3570,"1q21","NM_000565.3"]
["12307A(99)v27339",211,105,0.5,"12307A","INADL","chr1:62550238","c.4295C>G(E33)","p.1432,P>R","rs201822318",0.0006,0,0,0,null,0.00046,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,10,0,"INADL",1,280,"错义",12110,"0.47=179/377","位于基因组单拷贝区域+DNA结构正常",10207,"1p31.3","NM_176877.2"]
["12307A(99)v29410",30,22,0.73,"12307A","INHBB","chr2:121106850","c.624C>T(E2)","p.208,H>H","rs4328642",0.14,0.39,0.4,0.38,0.37,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"INHBB",0.63,21,"同义",13203,"0.75=36/48","位于基因组单拷贝区域+DNA结构正常",3625,"2cen-q13","NM_002193.2"]
["12307A(99)v22280",86,49,0.57,"12307A","INPP4B","chr4:143007419","IVS23-10A>G","剪切位点","rs336324",0.6,0.6,0.6,0.61,null,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"INPP4B",1,270,"剪切位点",16202,"0.62=89/144","位于基因组单拷贝区域+DNA结构正常",8821,"4q31.21","NM_001101669.1"]
["12307A(99)v551",8,6,0.75,"12307A","INTS1","chr7:1538614","c.1134G>A(E8)","p.378,P>P","rs2289035",0.49,0.68,0.65,0.72,0.54,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"INTS1",0.97,18,"同义",13203,"0.80=8/10","位于基因组单拷贝区域+DNA结构正常",26173,"7p22.3","NM_001080453.2"]
["12307A(99)v12966",69,69,1,"12307A","IP6K3","chr6:33690796","c.934C>T(E7)","p.312,V>I","rs4713668",0.51,0.86,0.85,0.86,0.83,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"IP6K3",1,60,"错义",12220,"0.99=118/119","位于基因组单拷贝区域+DNA结构正常",117283,"6p21.31","NM_001142883.1"]
["12307A(99)v12087",151,150,0.99,"12307A","IQGAP2","chr5:75960865","c.2544T>C(E22)","p.848,H>H","rs253093",null,0.91,0.89,0.94,0.9,0.92,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"IQGAP2",1,270,"同义",13303,"0.99=262/264","位于基因组单拷贝区域+DNA结构正常",10788,"5q13.3","NM_006633.2"]
["12307A(99)v29051",162,1,0.01,"12307A","IRAK3","chr12:66597614-66597614","c.257(E2):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"哮喘相关症状易感5型",null,611064,1,2,3,1,"IRAK3",0.93,210,"缺失移码",2140,"0.01=2/177","位于基因组单拷贝区域+DNA结构正常",11213,"12q14.3","NM_007199.2"]
["12307A(99)v25421",114,55,0.48,"12307A","IRS2","chr13:110408608","m.4574C>T(E2)","非编码区","rs1865434",0.82,0.8,0.82,0.78,0.77,0.78,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,6,1,"IRS2",0.63,2.2,"非编码区",14200,"0.49=93/188","位于基因组单拷贝区域+DNA结构正常",8660,"13q34","NM_003749.2"]
["12307A(99)v26795",11,9,0.82,"12307A","ISX","chr22:35462985","m.856C>T(E1)","非编码区","rs77984721",0.084,0.31,0.3,0.32,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ISX",1,95,"非编码区",14200,"0.83=10/12","位于基因组单拷贝区域+DNA结构正常",91464,"22q12.3","NM_001008494.1"]
["12307A(99)v15278",1,1,1,"12307A","ITGB3","chr17:45388283","m.3100A>G(E15)","非编码区","rs2317676",0.12,0.21,0.21,0.2,null,null,"纯合","无关","有rs号，MAF>=5%",null,"心肌梗塞,易感1型",null,608446,5,1,5,3,"ITGB3",0.97,120,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",3690,"17q21.32","NM_000212.2"]
["12307A(99)v20327",8,5,0.62,"12307A","ITGB4","chr17:73751278","c.4491G>A(E33)","p.1497,A>A","rs62088214",0.032,0.1,0.1,0.1,0.092,0.11,"杂合","未知","预测范围之外的同义突变",null,"非赫利茨型交界型大疱性表皮松解症","AR",226650,4,3,4,3,"ITGB4",0.96,34,"同义",13103,"0.64=7/11","位于基因组单拷贝区域+DNA结构正常",3691,"17q25","NM_001005619.1"]
["12307A(99)v9569",56,25,0.45,"12307A","ITIH3","chr3:52833805","c.943C>A(E9)","p.315,Q>K","rs3617",0.54,0.46,0.41,0.51,0.44,0.42,"杂合","无关","有rs号，MAF>=5%",19416921,{"$nulls":3},5,null,1,0,"ITIH3",1,120,"错义",12220,"0.47=42/90","位于基因组单拷贝区域+DNA结构正常",3699,"3p21.1","NM_002217.3"]
["12307A(99)v21678",163,45,0.28,"12307A","ITPR2","chr12:26834804-26834805","IVS13+3至IVS13+2:插入ACTC","剪切位点","rs111626763",0.71,0.76,0.8,0.73,0.14,0.76,"杂合","未知","有rs号，MAF>=5%的剪切位点突变",{"$nulls":4},4,null,8,0,"ITPR2",1,270,"剪切位点",2320,"0.28=52/186","位于基因组单拷贝区域+DNA结构正常",3709,"12p11","NM_002223.2"]
["12307A(99)v1328",128,62,0.48,"12307A","JAK2","chr9:5064887","c.1061T>C(E9)","p.354,I>T","rs371907546",0.0002,0,0,0,null,0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"血小板增多症3型","AD",614521,3,1,3,6,"JAK2",1,340,"错义",12120,"0.51=111/218","位于基因组单拷贝区域+DNA结构正常",3717,"9p24","NM_004972.3"]
["12307A(99)v20540",98,40,0.41,"12307A","JAKMIP2","chr5:147024509","c.987C>T(E6)","p.329,R>R","rs2116765",0.37,0.5,0.51,0.5,0.46,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"JAKMIP2",0.98,210,"同义",13203,"0.40=76/191","位于基因组单拷贝区域+DNA结构正常",9832,"5q32","NM_001270934.1"]
["12307A(99)v14199",4,4,1,"12307A","JKAMP","chr14:59971638","m.1913A>T(E7)","非编码区","rs12587515",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"JKAMP",1,330,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",51528,"14q23.1","NM_001098625.1"]
["12307A(99)v17675",13,13,1,"12307A","KANK4","chr1:62740449","c.327T>C(E3)","p.109,S>S","rs2666507",0.78,0.83,0.79,0.88,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"KANK4",1,64,"同义",13203,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",163782,"1p31.3","NM_181712.4"]
["12307A(99)v15735",232,113,0.49,"12307A","KAT6B","chr10:76719805","c.699A>G(E4)","p.233,E>E","rs188787788",0.0004,0.0024,0.0048,0,0.0067,5.3E-3,"杂合","未知","预测范围之外的同义突变",null,"生殖器-髌骨综合症/genitopatellar综合征","AR",606170,4,3,2,2,"KAT6B",1,160,"同义",13103,"0.48=201/417","位于基因组单拷贝区域+DNA结构正常",23522,"10q22.2","NM_001256468.1"]
["12307A(99)v3300",11,4,0.36,"12307A","KCNC2","chr12:75437203","m.2732T>C(E5)","非编码区","rs10785167",0.59,0.58,0.59,0.58,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KCNC2",0.9,110,"非编码区",14200,"0.36=4/11","位于基因组单拷贝区域+DNA结构正常",3747,"12q14.1","NM_001260497.1"]
["12307A(99)v12711",28,12,0.43,"12307A","KCNH2","chr7:150649531","c.1539G>A(E6)","p.513,F>F","rs1805120",0.34,0.6,0.58,0.63,0.66,0.66,"杂合","无关","有rs号，MAF>=5%","19490382;19530973;19305;10807545;15599693;15746444;17597962;18426444","先天性长Q-T间期综合征2型","AD",613688,5,1,6,2,"KCNH2",0.86,30,"同义",13203,"0.46=19/41","位于基因组单拷贝区域+DNA结构正常",3757,"7q36.1","NM_000238.3"]
["12307A(99)v3653",26,25,0.96,"12307A","KCNJ11","chr11:17408630","c.1009C>T(E1)","p.337,V>I","rs5215",0.73,0.61,0.6,0.62,0.57,0.64,"纯合","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","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,3,4,"KCNJ11",1,39,"错义",12220,"0.97=37/38","位于基因组单拷贝区域+DNA结构正常",3767,"11p15.1","NM_000525.3"]
["12307A(99)v31527",2,2,1,"12307A","KCNJ15","chr21:39672624","m.1743C>G(E4)","非编码区","rs9963",0.77,0.71,0.72,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KCNJ15",1,95,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",3772,"21q22.2","NM_002243.3"]
["12307A(99)v1046",111,60,0.54,"12307A","KCNK10","chr14:88792816","m.441T>G(E1)","非编码区","rs3742690",0.88,0.8,0.8,0.8,0.7,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"KCNK10",1,130,"非编码区",14200,"0.55=104/189","位于基因组单拷贝区域+DNA结构正常",54207,"14q31.3","NM_021161.4"]
["12307A(99)v14208",51,19,0.37,"12307A","KCNS1","chr20:43723521","c.1571T>G(E5)","p.524,Q>P","rs61731056",0.021,0.029,0.038,0.019,0.034,0.033,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"KCNS1",0.89,23,"错义",12120,"0.40=36/91","位于基因组单拷贝区域+DNA结构正常",3787,"20q12","NM_002251.3"]
["12307A(99)v21728",14,1,0.07,"12307A","KDELR3","chr22:38878758","m.1018C>T(E5)","非编码区","rs138436",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"KDELR3",1,150,"非编码区",14300,"0.07=1/15","位于基因组单拷贝区域+DNA结构正常",11015,"22q13.1","NM_006855.2"]
["12307A(99)v17471",10,3,0.3,"12307A","KDM6B","chr17:7750436","c.923C>T(E10)","p.308,S>L","rs2270516",0.047,0.18,0.2,0.16,0.18,0.18,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"KDM6B",0.9,32,"错义",12120,"0.47=8/17","位于基因组单拷贝区域+DNA结构正常",23135,"17p13.1","NM_001080424.1"]
["12307A(99)v5779",124,66,0.53,"12307A","KHDRBS2","chr6:62390843","m.1322G>A(E9)","非编码区","rs117408853",0.003,0.014,0.0095,0.019,null,0.024,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"KHDRBS2",1,250,"非编码区",14100,"0.54=102/190","位于基因组单拷贝区域+DNA结构正常",202559,"6q11.1","NM_152688.2"]
["12307A(99)v1090",7,2,0.29,"12307A","KIAA0664","chr17:2601836","c.1201T>C(E10)","p.401,I>V","rs147005034",0.011,0.038,0.029,0.049,0.041,0.063,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"KIAA0664",1,21,"错义",12120,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",23277,"17p13.3","NM_015229.3"]
["12307A(99)v16199",145,72,0.5,"12307A","KIAA1033","chr12:105551056","c.2868A>G(E28)","p.956,L>L","rs3763992",0.013,0.065,0.067,0.063,0.073,0.076,"杂合","未知","预测范围之外的同义突变",null,"常染色体隐性遗传性智力发育迟滞43型","AR",615817,4,3,5,1,"KIAA1033",1,300,"同义",13103,"0.52=139/269","位于基因组单拷贝区域+DNA结构正常",23325,"12q24.11","NM_015275.1"]
["12307A(99)v1983",11,1,0.09,"12307A","KIAA1045","chr9:34978171","m.1477T>C(E8)","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,"KIAA1045",1,58,"非编码区",14400,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",23349,"9p13.3","NM_015297.1"]
["12307A(99)v13083",182,84,0.46,"12307A","KIAA1407","chr3:113720517","c.2088T>A(E13)","p.696,E>D","rs6784095",0.11,0.19,0.19,0.18,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KIAA1407",1,210,"错义",12220,"0.46=145/318","位于基因组单拷贝区域+DNA结构正常",57577,"3q13.31","NM_020817.1"]
["12307A(99)v17351",120,57,0.47,"12307A","KIAA1551","chr12:32134240","c.351C>T(E4)","p.117,N>N","rs2388982",null,0.81,0.8,0.82,0.79,0.8,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"KIAA1551",1,180,"同义",13303,"0.47=94/198","位于基因组单拷贝区域+DNA结构正常",55196,"12p11.21","NM_018169.3"]
["12307A(99)v16275",12,12,1,"12307A","KIAA1609","chr16:84513463","m.1534T>G(E8)","非编码区","rs899250",0.77,0.93,0.97,0.88,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KIAA1609",1,88,"非编码区",14200,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",57707,"16q24.1","NM_020947.3"]
["12307A(99)v18885",140,68,0.49,"12307A","KIAA1731","chr11:93402006","c.342A>G(E4)","p.114,A>A","rs61743303",0.13,0.3,0.3,0.29,0.26,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KIAA1731",1,210,"同义",13203,"0.46=118/257","位于基因组单拷贝区域+DNA结构正常",85459,"11q21","NM_033395.1"]
["12307A(99)v12760",18,18,1,"12307A","KIF16B","chr20:16359567","c.3080A>G(E19)","p.1027,M>T","rs6034464",0.79,0.98,0.98,0.97,0.9,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KIF16B",0.85,200,"错义",12220,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",55614,"20p11.23","NM_001199865.1"]
["12307A(99)v1730",83,34,0.41,"12307A","KIF1B","chr1:10431329","IVS43+9C>T","非编码区","rs72867431",0.043,0.065,0.062,0.068,0.12,0.088,"杂合","未知","内含子突变可能影响调控",null,"恰克-马利-杜斯氏症2A1型，轴索型","AD",118210,4,1,5,3,"KIF1B",1,200,"非编码区",16103,"0.40=51/126","位于基因组单拷贝区域+DNA结构正常",23095,"1p36.2","NM_015074.3"]
["12307A(99)v19197",1,1,1,"12307A","KIF3A","chr5:132029491","m.5089A>G(E17)","非编码区","rs4705963",0.45,0.28,0.27,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KIF3A",1,350,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",11127,"5q31","NM_007054.5"]
["12307A(99)v17805",27,9,0.33,"12307A","KIR2DL1","chr19:55295489","m.1309A>G(E8)","非编码区","rs598922",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"KIR2DL1",1,710,"非编码区",14300,"0.29=11/38","位于基因组多拷贝区域+DNA结构正常",3802,"19q13.4","NM_014218.2"]
["12307A(99)v27867",20,11,0.55,"12307A","KLC4","chr6:43035007","m.1142C>T(E6)","非编码区","rs4714661",0.3,0.21,0.2,0.22,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KLC4",1,68,"非编码区",14200,"0.61=14/23","位于基因组单拷贝区域+DNA结构正常",89953,"6p21.1","NM_138343.2"]
["12307A(99)v4901",4,4,1,"12307A","KLF6","chr10:3821561","m.1163G>A(E4)","非编码区","rs17731",0.27,0.53,0.55,0.5,null,0.57,"纯合","无关","有rs号，MAF>=5%",null,"胃癌",null,613659,5,1,1,2,"KLF6",1,66,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",1316,"10p15","NM_001160124.1"]
["12307A(99)v14784",74,73,0.99,"12307A","KLHL29","chr2:23926659","c.2370T>C(E13)","p.790,A>A","rs3795948",0.55,0.8,0.78,0.81,0.8,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KLHL29",0.83,53,"同义",13203,"0.98=131/133","位于基因组单拷贝区域+DNA结构正常",114818,"2p24.1","NM_052920.1"]
["12307A(99)v1075",118,118,1,"12307A","KLHL6","chr3:183211906","c.1311A>G(E5)","p.437,N>N","rs1520101",0.7,0.79,0.8,0.78,0.79,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KLHL6",1,130,"同义",13203,"1.00=208/208","位于基因组单拷贝区域+DNA结构正常",89857,"3q27.3","NM_130446.2"]
["12307A(99)v22642",22,22,1,"12307A","KLRC3","chr12:10571658","c.316C>T(E3)","p.106,A>T","rs28626640",0.97,1,1,1,0.78,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"KLRC3",0.95,380,"错义",12220,"1.00=29/29","位于基因组多拷贝区域+DNA结构正常",3823,"12p13","NM_002261.2"]
["12307A(99)v8559",5,2,0.4,"12307A","KLRG2","chr7:139138950","c.1016C>G(E4)","p.339,G>A","rs17160911",0.18,0.22,0.21,0.23,0.16,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KLRG2",0.61,20,"错义",12220,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",346689,"7q34","NM_198508.2"]
["12307A(99)v16090",31,12,0.39,"12307A","KNDC1","chr10:134997480","c.612C>T(E5)","p.204,F>F","rs57510763",0.42,0.56,0.54,0.57,0.54,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KNDC1",0.9,29,"同义",13203,"0.36=20/56","位于基因组单拷贝区域+DNA结构正常",85442,"10q26.3","NM_152643.6"]
["12307A(99)v12826",208,208,1,"12307A","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,"Noonan综合征3型",null,609942,5,1,3,9,"KRAS",1,370,"同义",13203,"1.00=464/464","位于基因组单拷贝区域+DNA结构正常",3845,"12p12.1","NM_033360.2"]
["12307A(99)v4372",87,86,0.99,"12307A","KRT13","chr17:39661689","c.114G>A(E1)","p.38,S>S","rs8182306",0.86,0.96,0.94,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",null,"白色海绵状痣综合征2型","AD",615785,5,1,7,1,"KRT13",1,89,"同义",13203,"0.99=151/153","位于基因组单拷贝区域+DNA结构正常",3860,"17q12-q21.2","NM_002274.3"]
["12307A(99)v8541",41,16,0.39,"12307A","KRT26","chr17:38926002","IVS5+4G>A","剪切位点","rs16966256",0.17,0.19,0.16,0.21,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KRT26",1,210,"剪切位点",16202,"0.40=28/70","位于基因组单拷贝区域+DNA结构正常",353288,"17q21.2","NM_181539.4"]
["12307A(99)v15822",9,3,0.33,"12307A","KRT32","chr17:39616289-39616289","m.1481(E7):缺失G","非编码区","rs3840884",0.42,0.5,0.51,0.5,0.029,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,10,0,"KRT32",1,52,"非编码区",2420,"0.33=3/9","位于基因组单拷贝区域+DNA结构正常",3882,"17q21.2","NM_002278.3"]
["12307A(99)v7392",7,1,0.14,"12307A","KRT5","chr12:52913937","c.144C>A(E1)","p.48,R>S",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"局限性单纯性大疱性表皮松解症","AD",131800,2,1,3,7,"KRT5",1,94,"错义",12410,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",3852,"12q13.13","NM_000424.3"]
["12307A(99)v26771",133,133,1,"12307A","KRT7","chr12:52631313","c.557A>G(E3)","p.186,H>R","rs6580870",0.87,0.89,0.9,0.88,0.9,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KRT7",1,56,"错义",12220,"1.00=261/262","位于基因组单拷贝区域+DNA结构正常",3855,"12q13.13","NM_005556.3"]
["12307A(99)v12231",26,1,0.04,"12307A","KRT82","chr12:52799822","c.240G>A(E1)","p.80,Y>Y",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"KRT82",1,31,"同义",13403,"0.10=4/40","位于基因组单拷贝区域+DNA结构正常",3888,"12q13","NM_033033.3"]
["12307A(99)v4815",6,6,1,"12307A","KRTAP10-1","chr21:45959559","c.475C>A(E1)","p.159,D>Y","rs62218859",0.6,0.49,0.47,0.51,0.47,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KRTAP10-1",0.83,9.9,"错义",12220,"1.00=9/9","位于基因组多拷贝区域+DNA结构正常",386677,"21q22.3","NM_198691.2"]
["12307A(99)v24697",81,79,0.98,"12307A","KRTAP19-6","chr21:31913982-31913982","c.171(E1):缺失G","缺失移码","rs5843453",0.79,0.69,0.68,0.7,0.11,0.71,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,2,0,"KRTAP19-6",1,210,"缺失移码",2120,"0.98=88/90","位于基因组单拷贝区域+DNA结构正常",337973,"21q22.1","NM_181612.2"]
["12307A(99)v26426",13,7,0.54,"12307A","KRTAP4-4","chr17:39316528","c.416G>A(E1)","p.139,T>I","rs74572864",0.019,0.094,0.1,0.087,0.068,0.083,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"KRTAP4-4",1,20,"错义",12110,"0.48=12/25","位于基因组单拷贝区域+DNA结构正常",84616,"17q12-q21","NM_032524.1"]
["12307A(99)v1567",3,3,1,"12307A","KRTAP4-8","chr17:39253521","m.855A>T(E1)","非编码区","rs6503593",0.56,0.41,0.4,0.43,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"KRTAP4-8",1,13,"非编码区",14200,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",728224,"17q21.2","NM_031960.2"]
["12307A(99)v16725",188,188,1,"12307A","L2HGDH","chr14:50769717","c.159G>A(E2)","p.53,I>I","rs2297995",0.6,0.6,0.59,0.61,0.61,0.66,"纯合","无关","有rs号，MAF>=5%",null,"2-羟基戊二酸尿症L型","AR",236792,5,1,3,1,"L2HGDH",1,260,"同义",13203,"1.00=346/346","位于基因组单拷贝区域+DNA结构正常",79944,"14q21.3","NM_024884.2"]
["12307A(99)v11865",3,3,1,"12307A","LACTB","chr15:63434110","m.1822C>T(E6)","非编码区","rs8468",0.75,0.99,0.99,0.98,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LACTB",0.82,180,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",114294,"15q22.1","NM_032857.3"]
["12307A(99)v29532",4,4,1,"12307A","LAMA5","chr20:60909060","c.2775A>G(E23)","p.925,P>P","rs13038331",0.76,0.94,0.95,0.94,0.8,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"LAMA5",0.89,11,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",3911,"20q13.2-q13.3","NM_005560.3"]
["12307A(99)v9113",6,6,1,"12307A","LAMB3","chr1:209788514","m.3765G>A(E23)","非编码区","rs2566",0.3,0.37,0.38,0.35,null,null,"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",226650,5,1,7,2,"LAMB3",1,55,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",3914,"1q32","NM_000228.2"]
["12307A(99)v11377",100,100,1,"12307A","LAP3","chr4:17586703","c.648T>C(E6)","p.216,A>A","rs3733576",0.76,0.92,0.9,0.94,0.92,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"LAP3",1,210,"同义",13203,"1.00=161/161","位于基因组多拷贝区域+DNA结构正常",51056,"4p15.32","NM_015907.2"]
["12307A(99)v29391",47,27,0.57,"12307A","LARP6","chr15:71125093","c.774G>A(E3)","p.258,C>C","rs3825970",0.5,0.46,0.47,0.44,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LARP6",0.87,91,"同义",13203,"0.61=39/64","位于基因组单拷贝区域+DNA结构正常",55323,"15q23","NM_018357.2"]
["12307A(99)v15683",98,28,0.29,"12307A","LCE4A","chr1:152681680-152681681","c.129(E1)至c.130(E1):插入AGCTCTGGGGGCTGCTGT","插入非移码","rs6143428",null,0.71,0.73,0.7,0.035,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"LCE4A",1,100,"插入非移码",2232,"0.25=28/112","位于基因组多拷贝区域+DNA结构正常",199834,"1q21.3","NM_178356.2"]
["12307A(99)v13669",9,1,0.11,"12307A","LCNL1","chr9:139879397","c.429G>A(E3)","p.143,W>X",{"$nulls":7},"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,1,0,"LCNL1",1,38,"截断",15400,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",401562,"9q34.3","NM_207510.3"]
["12307A(99)v27846",1,1,1,"12307A","LDHD","chr16:75146139","m.1691G>A(E11)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"LDHD",1,22,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",197257,"16q23.1","NM_153486.3"]
["12307A(99)v31381",55,30,0.55,"12307A","LGALS8","chr1:236702374","c.330G>A(E5)","p.110,L>L","rs2472126",0.43,0.5,0.5,0.5,0.49,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"LGALS8",1,230,"同义",13203,"0.54=51/94","位于基因组单拷贝区域+DNA结构正常",3964,"1q43","NM_006499.4"]
["12307A(99)v31396",133,64,0.48,"12307A","LGALS8","chr1:236708224","IVS11+9A>C","非编码区","rs2244063",0.5,0.5,0.5,0.5,null,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"LGALS8",1,230,"非编码区",16203,"0.47=101/216","位于基因组单拷贝区域+DNA结构正常",3964,"1q43","NM_006499.4"]
["12307A(99)v850",151,85,0.56,"12307A","LILRA6","chr19:54746051","c.206A>C(E3)","p.69,L>W","rs620207",{"$nulls":4},0.55,0.54,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,12,0,"LILRA6",1,110,"错义",12320,"0.58=161/277","位于基因组多拷贝区域+DNA结构正常",79168,"19q13.4","NM_024318.2"]
["12307A(99)v6300",140,72,0.51,"12307A","LILRB1","chr19:55143083","c.203T>C(E4)","p.68,L>P","rs1061679",0.47,0.61,0.61,0.61,0.64,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"LILRB1",1,150,"错义",12220,"0.50=126/254","位于基因组多拷贝区域+DNA结构正常",10859,"19q13.4","NM_001081637.1"]
["12307A(99)v21222",72,29,0.4,"12307A","LINS","chr15:101109677","c.2040C>A(E7)","p.680,R>S","rs8451",0.31,0.2,0.17,0.23,0.2,0.21,"杂合","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",614340,5,3,10,1,"LINS",1,160,"错义",12220,"0.37=46/125","位于基因组单拷贝区域+DNA结构正常",55180,"15q26.3","NM_001040616.2"]
["12307A(99)v19250",237,236,1,"12307A","LIPC","chr15:58853079","c.1068C>A(E7)","p.356,F>L","rs3829462",0.94,0.94,0.95,0.94,0.91,0.94,"纯合","无关","有rs号，MAF>=5%","17903301;19041386","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,6,3,"LIPC",0.99,170,"错义",12210,"1.00=435/436","位于基因组单拷贝区域+DNA结构正常",3990,"15q21-q23","NM_000236.2"]
["12307A(99)v3302",103,41,0.4,"12307A","LIPK","chr10:90512306","c.993G>C(E9)","p.331,M>I","rs1214464",0.19,0.28,0.24,0.32,0.3,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LIPK",1,260,"错义",12210,"0.38=68/179","位于基因组单拷贝区域+DNA结构正常",643414,"10q23.31","NM_001080518.1"]
["12307A(99)v7546",3,1,0.33,"12307A","LMNA","chr1:156108299","c.1383G>T(E11)","p.461,S>S",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"Emery-Dreifuss型肌营养不良2型","AD",181350,4,1,2,11,"LMNA",0.97,33,"同义",13403,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",4000,"1q22","NM_001257374.1"]
["12307A(99)v14700",7,1,0.14,"12307A","LOC100131094","chr19:4682833","m.279G>A(E2)","非编码区",{"$nulls":6},3.3E-4,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"LOC100131094",null,null,"非编码区",14400,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",100131094,"19p13.3","NM_001242901.1"]
["12307A(99)v21656",26,26,1,"12307A","LOC100996295","chr17:76495050","m.509C>T(E2)","非编码区","rs691291",0.92,0.96,0.96,0.96,null,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"LOC100996295",null,null,"非编码区",14200,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",100996295,"-","XM_003846285.1"]
["12307A(99)v18628",88,32,0.36,"12307A","LOC100996575","chr1:144598755","c.218G>A(E3)","p.73,R>Q","rs2660554",0.5,0.49,0.49,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"LOC100996575",1,170,"错义",12230,"0.35=56/158","位于基因组多拷贝区域+DNA结构正常",100996575,"-","XM_003846383.2"]
["12307A(99)v14177",4,4,1,"12307A","LOXL2","chr8:23155337","m.2883G>C(E14)","非编码区","rs2280936",0.55,0.81,0.8,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LOXL2",1,60,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",4017,"8p21.3","NM_002318.2"]
["12307A(99)v25694",97,97,1,"12307A","LPHN3","chr4:62845388","c.2709G>C(E15)","p.903,R>R","rs1397547",0.82,0.86,0.86,0.85,0.81,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LPHN3",1,230,"同义",13203,"1.00=172/172","位于基因组单拷贝区域+DNA结构正常",23284,"4q13.1","NM_015236.4"]
["12307A(99)v3124",74,74,1,"12307A","LRCH1","chr13:47260054","c.700T>C(E5)","p.234,S>P","rs842381",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LRCH1",0.98,210,"错义",12230,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",23143,"13q14.11","NM_001164211.1"]
["12307A(99)v2294",61,30,0.49,"12307A","LRP1","chr12:57593101","c.9783G>A(E61)","p.3261,T>T","rs1140648",0.53,0.51,0.53,0.5,0.53,0.55,"杂合","无关","有rs号，MAF>=5%",22819221,{"$nulls":3},5,null,14,0,"LRP1",1,52,"同义",13203,"0.50=53/107","位于基因组单拷贝区域+DNA结构正常",4035,"12q13-q14","NM_002332.2"]
["12307A(99)v9432",45,45,1,"12307A","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","vanBuchem病（泛发性骨皮质增厚症）","AD",607636,5,1,4,7,"LRP5",0.98,39,"同义",13203,"1.00=75/75","位于基因组多拷贝区域+DNA结构正常",4041,"11q13.4","NM_002335.2"]
["12307A(99)v2502",108,54,0.5,"12307A","LRP8","chr1:53716416","c.2622G>A(E17)","p.874,D>D","rs3737983",0.37,0.72,0.74,0.69,0.68,null,"杂合","无关","有rs号，MAF>=5%","16642433;22419519;23524007;24867879","心肌梗塞,易感1型",null,608446,5,2,4,1,"LRP8",0.87,80,"同义",13203,"0.55=118/216","位于基因组单拷贝区域+DNA结构正常",7804,"1p34","NM_001018054.2"]
["12307A(99)v12663",105,33,0.31,"12307A","LRRC17","chr7:102575000-102575002","c.640(E2)至c.642(E2):缺失GAA","缺失非移码","rs531650613",0.63,0.41,0.38,0.45,0.055,0.4,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,2,0,"LRRC17",1,190,"缺失非移码",2223,"0.33=37/113","位于基因组单拷贝区域+DNA结构正常",10234,"7q22.1","NM_001031692.2"]
["12307A(99)v15989",7,1,0.14,"12307A","LRRC71","chr1:156897772","c.972A>G(E9)","p.324,K>K",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"LRRC71",1,65,"同义",13403,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",149499,"1q23.1","NM_144702.2"]
["12307A(99)v21324",125,124,0.99,"12307A","LRRIQ3","chr1:74575182","c.763C>T(E5)","p.255,A>T","rs1340472",0.8,0.97,0.97,0.98,0.97,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LRRIQ3",1,210,"错义",12220,"1.00=221/222","位于基因组单拷贝区域+DNA结构正常",127255,"1p31.1","NM_001105659.1"]
["12307A(99)v4740",3,3,1,"12307A","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%",{"$nulls":4},5,null,9,0,"LSG1",1,190,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",55341,"3q29","NM_018385.2"]
["12307A(99)v4955",10,1,0.1,"12307A","LTBP2","chr14:74970004","c.4806G>T(E33)","p.1602,H>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"先天性青光眼3D",null,613086,3,2,4,3,"LTBP2",0.96,38,"错义",12420,"0.11=2/19","位于基因组单拷贝区域+DNA结构正常",4053,"14q24","NM_000428.2"]
["12307A(99)v16131",17,17,1,"12307A","LY6K","chr8:143784275","c.231C>T(E3)","p.77,P>P","rs2294012",0.038,0.1,0.1,0.097,0.098,0.12,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"LY6K",1,77,"同义",13103,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",54742,"8q24.3","NM_001160354.1"]
["12307A(99)v6370",106,47,0.44,"12307A","LY75-CD302","chr2:160710922","c.2544T>C(E18)","p.848,A>A","rs2729705",0.52,0.47,0.49,0.45,0.43,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"LY75-CD302",1,260,"同义",13203,"0.47=84/180","位于基因组单拷贝区域+DNA结构正常",100526664,"2q","NM_001198759.1"]
["12307A(99)v20039",185,185,1,"12307A","MACF1","chr1:39748921","c.771G>A(E9)","p.257,Q>Q","rs2275188",0.59,0.64,0.7,0.58,0.59,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MACF1",1,180,"同义",13203,"1.00=350/351","位于基因组单拷贝区域+DNA结构正常",23499,"1p32-p31","NM_012090.4"]
["12307A(99)v19324",39,38,0.97,"12307A","MAGEA12","chrX:151899760","m.1395A>G(E3)","非编码区","rs2515830",null,1,1,0.99,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"MAGEA12",1,240,"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"]
["12307A(99)v25057",49,29,0.59,"12307A","MAGEC1","chrX:140994031","c.841G>T(E4)","p.281,V>L","rs176044",null,0.019,0.025,0.013,0.075,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,12,0,"MAGEC1",1,170,"错义",12320,"0.58=36/62","位于基因组多拷贝区域+DNA结构正常",9947,"Xq26","NM_005462.4"]
["12307A(99)v12706",1,1,1,"12307A","MAGI3","chr1:113933734","c.79G>T(E1)","p.27,G>C",{"$nulls":7},"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"MAGI3",1,230,"错义",12410,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",260425,"1p12-p11.2","NM_001142782.1"]
["12307A(99)v19179",5,5,1,"12307A","MAMDC4","chr9:139752899","c.2722T>G(E22)","p.908,W>G","rs2275156",{"$nulls":4},0.78,0.88,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"MAMDC4",0.97,13,"错义",12310,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",158056,"9q34.3","NM_206920.2"]
["12307A(99)v27170",118,118,1,"12307A","MANBA","chr4:103557077","c.2102G>A(E15)","p.701,T>M","rs2866413",0.55,0.52,0.57,0.47,0.47,0.52,"纯合","无关","有rs号，MAF>=5%",null,"β-甘露糖苷增多症","AR",248510,5,1,4,1,"MANBA",1,260,"错义",12220,"1.00=215/215","位于基因组单拷贝区域+DNA结构正常",4126,"4q22-q25","NM_005908.3"]
["12307A(99)v19730",51,24,0.47,"12307A","MAP2K3","chr17:21201719","IVS1-6T>C","剪切位点","rs8076154",{"$nulls":4},0.49,0.5,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,21,0,"MAP2K3",1,120,"剪切位点",16302,"0.44=36/81","位于基因组单拷贝区域+DNA结构正常",5606,"17q11.2","NM_002756.4"]
["12307A(99)v17357",243,242,1,"12307A","MAP4K3","chr2:39583446","c.189A>G(E3)","p.63,I>I","rs8545",0.69,0.85,0.87,0.83,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MAP4K3",1,370,"同义",13203,"0.99=461/465","位于基因组单拷贝区域+DNA结构正常",8491,"2p22.1","NM_001270425.1"]
["12307A(99)v6938",168,167,0.99,"12307A","MAP9","chr4:156276289","c.1314C>T(E10)","p.438,V>V","rs2341894",0.74,0.94,0.95,0.93,0.92,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MAP9",1,270,"同义",13203,"1.00=306/307","位于基因组单拷贝区域+DNA结构正常",79884,"4q32.1","NM_001039580.1"]
["12307A(99)v30576",58,33,0.57,"12307A","MARC2","chr1:220928376","c.360T>C(E2)","p.120,N>N","rs371348",0.062,0.096,0.086,0.11,0.094,0.073,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MARC2",0.99,170,"同义",13203,"0.61=62/102","位于基因组单拷贝区域+DNA结构正常",54996,"1q41","NM_017898.3"]
["12307A(99)v2510",70,70,1,"12307A","MASP2","chr1:11090916","c.1111C>A(E9)","p.371,D>Y","rs12711521",0.58,0.66,0.66,0.66,0.61,0.66,"纯合","无关","有rs号，MAF>=5%","19405982;24632598","甘露聚糖结合凝集素丝氨酸肽酶2缺乏症",null,613791,5,1,4,1,"MASP2",1,130,"错义",12210,"1.00=110/110","位于基因组单拷贝区域+DNA结构正常",10747,"1p36.3-p36.2","NM_006610.3"]
["12307A(99)v7106",111,56,0.5,"12307A","MATN2","chr8:99006748","c.1122C>T(E7)","p.374,H>H","rs11559201",0.12,0.082,0.086,0.078,0.07,0.078,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MATN2",1,170,"同义",13203,"0.47=94/199","位于基因组单拷贝区域+DNA结构正常",4147,"8q22","NM_002380.3"]
["12307A(99)v28408",118,56,0.47,"12307A","MAU2","chr19:19446936","c.300G>A(E3)","p.100,P>P","rs769267",0.53,0.64,0.57,0.72,0.73,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MAU2",1,53,"同义",13203,"0.48=98/204","位于基因组单拷贝区域+DNA结构正常",23383,"19p13.11","NM_015329.3"]
["12307A(99)v2688",1,1,1,"12307A","MC2R","chr18:13882486","m.3209C>A(E2)","非编码区","rs3744819",0.15,0.17,0.14,0.2,null,null,"纯合","无关","有rs号，MAF>=5%",null,"糖皮质激素缺乏症1型","AR",202200,5,1,2,1,"MC2R",1,110,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",4158,"18p11.2","NM_000529.2"]
["12307A(99)v13351",15,15,1,"12307A","MCHR1","chr22:41075695","c.246C>T(E1)","p.82,N>N","rs133073",0.62,0.97,0.98,0.97,0.93,0.98,"纯合","无关","有rs号，MAF>=5%","19502010;22081064;24305679",{"$nulls":3},5,null,2,0,"MCHR1",0.97,53,"同义",13203,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",2847,"22q13.2","NM_005297.3"]
["12307A(99)v2055",40,18,0.45,"12307A","MDC1","chr6:30671452","c.5508T>C(E10)","p.1836,T>T","rs77465266",0.017,0.022,0.019,0.024,0.048,0.041,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,11,0,"MDC1",0.52,37,"同义",13103,"0.40=24/60","位于基因组单拷贝区域+DNA结构正常",9656,"6p21.3","NM_014641.2"]
["12307A(99)v7985",2,2,1,"12307A","MDM4","chr1:204518842","m.1521C>A(E10)","非编码区","rs4245739",0.79,0.95,0.96,0.95,0.98,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MDM4",1,210,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",4194,"1q32","NM_001204171.1"]
["12307A(99)v7201",227,2,0.01,"12307A","MDN1","chr6:90354831-90354831","c.16505(E101):缺失A","缺失移码",{"$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",{"$nulls":4},1,null,14,0,"MDN1",1,200,"缺失移码",2140,"0.01=2/262","位于基因组单拷贝区域+DNA结构正常",23195,"6q15","NM_014611.1"]
["12307A(99)v11251",2,1,0.5,"12307A","MED24","chr17:38176065","c.2787G>T(E24)","p.929,S>R",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"MED24",1,72,"错义",12420,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",9862,"17q21.1","NM_001079518.1"]
["12307A(99)v29059",3,2,0.67,"12307A","MEGF8","chr19:42866272","c.5550A>G(E32)","p.1850,P>P","rs200526872",0.0004,0.0048,0.0048,0.0049,1E-3,2.8E-3,"杂合","未知","预测范围之外的同义突变",null,"Carpenter综合征","AR",614976,4,3,1,1,"MEGF8",0.98,23,"同义",13103,"0.80=4/5","位于基因组单拷贝区域+DNA结构正常",1954,"19q12","NM_001410.2"]
["12307A(99)v3701",68,36,0.53,"12307A","METTL17","chr14:21458619","IVS2-4A>C","剪切位点","rs17092373",0.057,0.091,0.1,0.083,null,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"METTL17",1,140,"剪切位点",16202,"0.50=52/103","位于基因组单拷贝区域+DNA结构正常",64745,"14q11.2","NM_001029991.1"]
["12307A(99)v22435",12,12,1,"12307A","METTL22","chr16:8738499","c.1096G>A(E10)","p.366,A>T","rs1731000",0.99,1,1,1,0.89,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"METTL22",1,110,"错义",12220,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",79091,"16p13.2","NM_024109.2"]
["12307A(99)v16600",7,1,0.14,"12307A","MFN2","chr1:12067131","c.1894C>T(E16)","p.632,R>W",{"$nulls":5},1.5E-3,0,"杂合","可能相关","蛋白结构预测结果为有害",null,"恰克-玛丽-杜斯氏症2A2型，轴索型","AD,AR",609260,2,1,2,2,"MFN2",1,90,"错义",12410,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",9927,"1p36.22","NM_001127660.1"]
["12307A(99)v10229",3,2,0.67,"12307A","MFSD7","chr4:675625","m.1859G>A(E10)","非编码区","rs76573953",0.062,0.22,0.2,0.25,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MFSD7",0.94,16,"非编码区",14200,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",84179,"4p16.3","NM_032219.2"]
["12307A(99)v8883",48,17,0.35,"12307A","MGST1","chr12:16517032","m.608T>G(E4)","非编码区","rs1042669",0.18,0.28,0.3,0.25,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MGST1",0.77,210,"非编码区",14200,"0.38=24/64","位于基因组单拷贝区域+DNA结构正常",4257,"12p12.3-p12.1","NM_001260511.1"]
["12307A(99)v14499",53,22,0.42,"12307A","MICALCL","chr11:12315335","c.357C>A(E3)","p.119,A>A","rs79609470",0.059,0.15,0.16,0.15,0.089,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"MICALCL",1,130,"同义",13203,"0.36=28/77","位于基因组单拷贝区域+DNA结构正常",84953,"11p15.3","NM_032867.2"]
["12307A(99)v11190",26,26,1,"12307A","MKI67","chr10:129901946","c.7078T>G(E12)","p.2360,T>P","rs1050767",0.22,0.25,0.27,0.24,0.26,0.28,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,19,0,"MKI67",1,130,"错义",12220,"0.97=38/39","位于基因组单拷贝区域+DNA结构正常",4288,"10q26.2","NM_001145966.1"]
["12307A(99)v567",249,113,0.45,"12307A","MLF1","chr3:158320703","c.601C>A(E6)","p.201,P>T","rs15967",0.33,0.31,0.31,0.31,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"急性髓性白血病","AD",601626,5,1,3,1,"MLF1",0.85,290,"错义",12220,"0.46=244/526","位于基因组单拷贝区域+DNA结构正常",4291,"3q25.1","NM_001130156.2"]
["12307A(99)v23059",63,24,0.38,"12307A","MLH3","chr14:75513828","c.2531G>A(E2)","p.844,P>L","rs175080",0.36,0.17,0.18,0.16,0.16,0.16,"杂合","无关","有rs号，MAF>=5%","19781088;20003265;20386703","结肠癌","AD",114500,5,1,3,3,"MLH3",1,200,"错义",12210,"0.42=39/93","位于基因组单拷贝区域+DNA结构正常",27030,"14q24.3","NM_001040108.1"]
["12307A(99)v1623",28,15,0.54,"12307A","MME","chr3:154898407","m.2532C>T(E23)","非编码区","rs701109",0.44,0.38,0.4,0.36,null,null,"杂合","无关","有rs号，MAF>=5%",null,"膜性肾病，易感",null,614692,5,2,2,1,"MME",1,320,"非编码区",14200,"0.55=16/29","位于基因组单拷贝区域+DNA结构正常",4311,"3q25.2","NM_000902.3"]
["12307A(99)v8895",167,75,0.45,"12307A","MMP27","chr11:102563739","c.1227C>T(E9)","p.409,G>G","rs1276289",0.45,0.61,0.6,0.62,0.56,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MMP27",1,300,"同义",13203,"0.46=141/304","位于基因组单拷贝区域+DNA结构正常",64066,"11q24","NM_022122.2"]
["12307A(99)v3982",142,142,1,"12307A","MMS19","chr10:99240758","c.203G>C(E3)","p.68,A>G","rs2275586",0.94,0.98,0.98,0.99,0.98,0.98,"纯合","无关","有rs号，MAF>=5%","16385451;18817904",{"$nulls":3},5,null,2,0,"MMS19",1,140,"错义",12220,"1.00=243/243","位于基因组单拷贝区域+DNA结构正常",64210,"10q24-q25","NM_022362.4"]
["12307A(99)v2654",21,21,1,"12307A","MOCOS","chr18:33780020","c.674A>G(E4)","p.225,H>R","rs623558",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MOCOS",0.97,140,"错义",12220,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",55034,"18q12","NM_017947.2"]
["12307A(99)v30811",96,44,0.46,"12307A","MPDZ","chr9:13176312","c.2754C>T(E20)","p.918,S>S","rs2274856",0.39,0.44,0.45,0.44,0.41,0.5,"杂合","无关","有rs号，MAF>=5%",19175764,"非综合征性脑积水2型","AR",615219,5,3,6,1,"MPDZ",0.99,260,"同义",13203,"0.45=69/153","位于基因组单拷贝区域+DNA结构正常",8777,"9p23","NM_001261406.1"]
["12307A(99)v23962",4,1,0.25,"12307A","MPL","chr1:43814533","c.1328G>T(E9)","p.443,G>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"骨髓纤维化","AD",254450,3,1,1,3,"MPL",1,76,"错义",12420,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",4352,"1p34","NM_005373.2"]
["12307A(99)v27985",102,51,0.5,"12307A","MPPE1","chr18:11883645","m.2490T>C(E8)","非编码区","rs143513168",0.0094,0.024,0.024,0.024,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"MPPE1",1,150,"非编码区",14100,"0.45=68/150","位于基因组单拷贝区域+DNA结构正常",65258,"18p11.21","NM_001242904.1"]
["12307A(99)v19538",24,11,0.46,"12307A","MRPL23","chr11:1972205","c.94G>A(E2)","p.32,G>S","rs2240197",0.092,0.14,0.14,0.14,0.11,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MRPL23",1,37,"错义",12210,"0.47=17/36","位于基因组单拷贝区域+DNA结构正常",6150,"11p15.5","NM_021134.3"]
["12307A(99)v4037",3,1,0.33,"12307A","MRPL4","chr19:10363248","c.146G>A(E3)","p.49,R>H",{"$nulls":5},0.00084,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"MRPL4",1,47,"错义",12410,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",51073,"19p13.2","NM_015956.2"]
["12307A(99)v4326",27,27,1,"12307A","MRVI1","chr11:10650329","c.594C>T(E5)","p.198,R>R","rs2278125",0.58,0.74,0.76,0.72,0.68,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MRVI1",0.98,110,"同义",13203,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",10335,"11p15","NM_001098579.2"]
["12307A(99)v21548",20,6,0.3,"12307A","MS4A15","chr11:60531346","c.140T>G(E2)","p.47,L>R","rs1032939",0.41,0.65,0.64,0.66,0.59,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MS4A15",1,51,"错义",12210,"0.28=11/39","位于基因组单拷贝区域+DNA结构正常",219995,"11q12.2","NM_001098835.1"]
["12307A(99)v12935",5,1,0.2,"12307A","MSX2","chr5:174156731","m.1037G>A(E2)","非编码区","rs548607704",0.0002,0,0,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"顶骨发育不全1型","AD",168500,3,1,2,3,"MSX2",1,46,"非编码区",14100,"0.29=2/7","位于基因组多拷贝区域+DNA结构正常",4488,"5q35.2","NM_002449.4"]
["12307A(99)v18946",36,35,0.97,"12307A","MTA1","chr14:105935824","c.1834G>A(E19)","p.612,A>T","rs13707",0.85,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MTA1",0.99,35,"错义",12220,"0.97=68/70","位于基因组单拷贝区域+DNA结构正常",9112,"14q32.3","NM_004689.3"]
["12307A(99)v5892",7,3,0.43,"12307A","MTMR9","chr8:11142389-11142390","m.390(E1)至m.391(E1):插入G","非编码区","rs3021505",0.72,0.88,0.88,0.89,0.11,0.91,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"MTMR9",1,190,"非编码区",2420,"0.50=4/8","位于基因组单拷贝区域+简单重复结构",66036,"8p23-p22","NM_015458.3"]
["12307A(99)v8951",11,5,0.45,"12307A","MTR","chr1:237061097","m.4374A>G(E33)","非编码区","rs11799670",0.11,0.036,0.048,0.024,null,null,"杂合","无关","有rs号，MAF>=5%",null,"高同型半胱氨酸血症cblG type （III型）","AR",250940,5,3,5,2,"MTR",1,230,"非编码区",14200,"0.40=6/15","位于基因组单拷贝区域+DNA结构正常",4548,"1q43","NM_000254.2"]
["12307A(99)v28791",93,43,0.46,"12307A","MUC12","chr7:100646966","c.13122A>C(E2)","p.4374,T>T","rs577319577",0.16,0.13,0.13,0.13,null,0.017,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,37,0,"MUC12",1,440,"同义",13203,"0.38=49/130","位于基因组多拷贝区域+DNA结构正常",10071,"7q22","NM_001164462.1"]
["12307A(99)v20389",45,29,0.64,"12307A","MUC16","chr19:9083427","c.8388A>G(E1)","p.2796,A>A","rs1609453",0.21,0.3,0.3,0.3,0.32,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,64,0,"MUC16",1,140,"同义",13203,"0.67=48/72","位于基因组单拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690.2"]
["12307A(99)v20404",50,23,0.46,"12307A","MUC16","chr19:9084299","c.7516T>C(E1)","p.2506,T>A","rs1609458",0.42,0.32,0.31,0.34,0.35,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,64,0,"MUC16",1,140,"错义",12220,"0.46=39/84","位于基因组单拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690.2"]
["12307A(99)v1163",6,5,0.83,"12307A","MUC2","chr11:1081151","IVS11+9T>C","非编码区","rs41464048",0.37,0.41,0.42,0.39,0.34,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,33,0,"MUC2",0.97,79,"非编码区",16203,"0.88=7/8","位于基因组单拷贝区域+DNA结构正常",4583,"11p15.5","NM_002457.2"]
["12307A(99)v1182",36,36,1,"12307A","MUC2","chr11:1094690","c.5763C>T(E33)","p.1921,T>T","rs10794291",0.75,0.94,0.92,0.95,0.9,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,33,0,"MUC2",0.97,79,"同义",13203,"1.00=49/49","位于基因组单拷贝区域+DNA结构正常",4583,"11p15.5","NM_002457.2"]
["12307A(99)v5638",30,6,0.2,"12307A","MUC4","chr3:195506953","c.11498G>A(E2)","p.3833,A>V","rs200568365",0.026,0.0024,0.0048,0,null,0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,102,0,"MUC4",0.99,86,"错义",12120,"0.18=8/44","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12307A(99)v5664",49,20,0.41,"12307A","MUC4","chr3:195507107","c.11344C>T(E2)","p.3782,A>T","rs201895754",{"$nulls":4},0.44,0.49,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,102,0,"MUC4",0.99,86,"错义",12320,"0.39=32/82","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12307A(99)v5710",58,39,0.67,"12307A","MUC4","chr3:195507372","c.11079C>G(E2)","p.3693,Q>H","rs147904363",0.039,0.036,0.024,0.049,0.48,0.49,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,102,0,"MUC4",0.99,86,"错义",12120,"0.69=60/87","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12307A(99)v5728",97,18,0.19,"12307A","MUC4","chr3:195512103","c.6348G>A(E2)","p.2116,T>T","rs437805",{"$nulls":4},0.23,0.16,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,102,0,"MUC4",0.99,86,"同义",13303,"0.20=34/172","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12307A(99)v4177",264,264,1,"12307A","MUSK","chr9:113457799","c.475A>G(E4)","p.159,S>G","rs35176182",0.11,0.19,0.22,0.17,0.16,0.29,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合症伴乙酰胆碱受体缺乏","AR",608931,5,1,4,1,"MUSK",1,180,"错义",12220,"1.00=491/492","位于基因组单拷贝区域+DNA结构正常",4593,"9q31.3-q32","NM_001166280.1"]
["12307A(99)v25371",5,1,0.2,"12307A","MVD","chr16:88722072","c.670G>T(E6)","p.224,L>M",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"MVD",1,27,"错义",12420,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",4597,"16q24.3","NM_002461.1"]
["12307A(99)v9644",10,10,1,"12307A","MXRA5","chrX:3228663","c.7581G>C(E7)","p.2527,A>A","rs1635234",null,0.57,0.56,0.57,0.38,0,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,16,0,"MXRA5",1,110,"同义",13303,"1.00=11/11","位于基因组多拷贝区域+DNA结构正常",25878,"Xp22.33","NM_015419.3"]
["12307A(99)v12681",237,237,1,"12307A","MYEF2","chr15:48443699","c.1277T>C(E13)","p.426,Q>R","rs2470103",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MYEF2",1,350,"错义",12230,"1.00=426/427","位于基因组单拷贝区域+DNA结构正常",50804,"15q21.1","NM_016132.3"]
["12307A(99)v21337",15,10,0.67,"12307A","MYH11","chr16:15811062","c.5460C>T(E39)","p.1820,K>K","rs1050162",0.4,0.28,0.3,0.27,0.26,0.31,"杂合","无关","有rs号，MAF>=5%",null,"家族性胸主动脉瘤4型","AD",132900,5,1,5,1,"MYH11",1,100,"同义",13203,"0.64=14/22","位于基因组多拷贝区域+DNA结构正常",4629,"16p13.11","NM_001040113.1"]
["12307A(99)v14915",223,222,1,"12307A","MYH8","chr17:10318636","c.714A>G(E8)","p.238,T>T","rs8068729",0.86,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"牙关紧闭伴假屈指综合症","AD",158300,5,1,1,2,"MYH8",1,230,"同义",13203,"1.00=418/419","位于基因组单拷贝区域+DNA结构正常",4626,"17p13.1","NM_002472.2"]
["12307A(99)v28262",9,3,0.33,"12307A","MYH9","chr22:36684354","c.4876T>C(E34)","p.1626,I>V","rs2269529",0.29,0.6,0.64,0.55,0.52,0.61,"杂合","无关","有rs号，MAF>=5%","18716610;19891592;20124285","May-Hegglin异常/出血性疾病，血小板6型","AD",155100,5,1,7,6,"MYH9",1,58,"错义",12220,"0.29=4/14","位于基因组单拷贝区域+DNA结构正常",4627,"22q13.1","NM_002473.4"]
["12307A(99)v3590",14,14,1,"12307A","MYLK3","chr16:46737510","m.6682T>C(E13)","非编码区","rs425556",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MYLK3",1,72,"非编码区",14200,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",91807,"16q11.2","NM_182493.2"]
["12307A(99)v7781",13,5,0.38,"12307A","MYO18B","chr22:26164413","c.530C>T(E4)","p.177,P>L","rs13058434",0.17,0.28,0.29,0.27,0.27,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"MYO18B",1,79,"错义",12220,"0.39=7/18","位于基因组单拷贝区域+DNA结构正常",84700,"22q12.1","NM_032608.5"]
["12307A(99)v29053",134,134,1,"12307A","MYO5A","chr15:52667552","c.2526G>A(E20)","p.842,I>I","rs2414145",0.84,0.96,0.96,0.96,0.91,0.97,"纯合","无关","有rs号，MAF>=5%",null,"格里塞利综合征1型(Griscelli综合征1型)","AR",214450,5,1,7,1,"MYO5A",1,200,"同义",13203,"1.00=239/240","位于基因组单拷贝区域+DNA结构正常",4644,"15q21","NM_000259.3"]
["12307A(99)v12620",6,3,0.5,"12307A","MYO5B","chr18:47352639","m.6037A>C(E40)","非编码区","rs73436344",{"$nulls":6},"杂合","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",251850,3,3,11,1,"MYO5B",1,130,"非编码区",14300,"0.44=4/9","位于基因组多拷贝区域+DNA结构正常",4645,"18q21","NM_001080467.2"]
["12307A(99)v6217",63,31,0.49,"12307A","MYOM2","chr8:2033459","c.1581C>T(E14)","p.527,V>V","rs117271121",0.0054,0.026,0.024,0.029,0.023,0.023,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"MYOM2",1,160,"同义",13103,"0.53=63/119","位于基因组单拷贝区域+DNA结构正常",9172,"8p23.3","NM_003970.2"]
["12307A(99)v20731",87,87,1,"12307A","MYOT","chr5:137206560","c.220A>C(E2)","p.74,K>Q","rs6890689",{"$nulls":4},0.99,1,"纯合","未知","未知",null,"肌原纤维肌病3型","AD",609200,3,1,2,3,"MYOT",1,290,"错义",12330,"1.00=132/132","位于基因组单拷贝区域+DNA结构正常",9499,"5q31","NM_006790.2"]
["12307A(99)v10676",69,69,1,"12307A","MYZAP","chr15:57918069","c.504A>G(E5)","p.168,A>A","rs2069133",0.53,0.54,0.52,0.57,0.56,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MYZAP",0.95,230,"同义",13203,"1.00=116/116","位于基因组单拷贝区域+DNA结构正常",100820829,"15q21.3","NM_001018100.3"]
["12307A(99)v9559",51,51,1,"12307A","NACA","chr12:57109931","c.1924A>T(E5)","p.642,S>T","rs2926747",0.65,0.78,0.77,0.78,0.77,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"NACA",1,160,"错义",12220,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",4666,"12q23-q24.1","NM_001113203.2"]
["12307A(99)v15919",6,4,0.67,"12307A","NAGPA","chr16:5075542","c.1485G>A(E10)","p.495,N>N","rs887854",0.79,0.85,0.87,0.83,0.77,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NAGPA",0.73,31,"同义",13203,"0.60=6/10","位于基因组单拷贝区域+DNA结构正常",51172,"16p13.3","NM_016256.3"]
["12307A(99)v13123",2,2,1,"12307A","NAT6","chr3:50334231","c.664T>A(E2)","p.222,R>W","rs2269432",0.22,0.63,0.67,0.6,0.46,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NAT6",0.94,11,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",24142,"3p21.3","NM_001200016.1"]
["12307A(99)v9464",47,47,1,"12307A","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%",{"$nulls":4},5,null,16,0,"NAV2",1,110,"同义",13203,"1.00=78/78","位于基因组单拷贝区域+DNA结构正常",89797,"11p15.1","NM_001111018.1"]
["12307A(99)v22460",357,80,0.22,"12307A","NBPF10","chr1:145298186","c.598C>G(E5)","p.200,P>A","rs28507779",{"$nulls":5},0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,21,0,"NBPF10",1,230,"错义",12320,"0.24=142/602","位于基因组多拷贝区域+DNA结构正常",100132406,"1q21.1","NM_001039703.4"]
["12307A(99)v3567",150,50,0.33,"12307A","NBPF14","chr1:148004758","c.2556A>C(E22)","p.852,P>P","rs78203364",0.083,0.13,0.15,0.12,0.13,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"NBPF14",1,540,"同义",13203,"0.34=83/247","位于基因组多拷贝区域+DNA结构正常",25832,"1q21.1","NM_015383.1"]
["12307A(99)v27248",49,23,0.47,"12307A","NCAN","chr19:19345802","c.3147C>T(E10)","p.1049,D>D","rs2228600",0.1,0.058,0.076,0.039,0.045,0.056,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NCAN",0.98,57,"同义",13203,"0.53=48/90","位于基因组单拷贝区域+DNA结构正常",1463,"19p12","NM_004386.2"]
["12307A(99)v15917",58,30,0.52,"12307A","NCF4","chr22:37271882","c.815T>C(E8)","p.272,L>P","rs2075939",0.83,0.71,0.72,0.7,0.66,0.67,"杂合","无关","有rs号，MAF>=5%",null,"AR遗传慢性肉芽肿病细胞色素B阳性3型","AR",613960,5,3,1,1,"NCF4",1,68,"错义",12220,"0.54=44/81","位于基因组单拷贝区域+DNA结构正常",4689,"22q13.1","NM_013416.3"]
["12307A(99)v21498",1,1,1,"12307A","NDFIP2","chr13:80126768","m.1151G>A(E8)","非编码区","rs1212082",0.28,0.27,0.29,0.25,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NDFIP2",0.9,150,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54602,"13q31.1","NM_001161407.1"]
["12307A(99)v8201",81,81,1,"12307A","NDUFAF4","chr6:97339088","c.420C>T(E3)","p.140,Q>Q","rs11402",0.93,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"线粒体复合物I缺陷（核基因）","XD,AR",252010,5,1,4,1,"NDUFAF4",1,180,"同义",13203,"1.00=135/135","位于基因组多拷贝区域+DNA结构正常",29078,"6q16.1","NM_014165.3"]
["12307A(99)v4692",83,83,1,"12307A","NDUFAF6","chr8:96070181","m.1041T>C(E9)","非编码区","rs2678832",0.93,1,1,1,0.78,1,"纯合","无关","有rs号，MAF>=5%",null,"Leigh综合征","AR",256000,5,1,1,1,"NDUFAF6",0.95,270,"非编码区",14200,"0.99=141/142","位于基因组单拷贝区域+DNA结构正常",137682,"8q22.1","NM_152416.3"]
["12307A(99)v4351",88,88,1,"12307A","NEDD4","chr15:56152598","IVS11+7A>G","非编码区","rs4774228",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"NEDD4",1,280,"非编码区",16203,"1.00=136/136","位于基因组单拷贝区域+DNA结构正常",4734,"15q","NM_006154.2"]
["12307A(99)v20508",7,5,0.71,"12307A","NEIL3","chr4:178283798","m.2108C>G(E10)","非编码区","rs1055677",0.18,0.14,0.14,0.15,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"NEIL3",1,250,"非编码区",14200,"0.71=5/7","位于基因组单拷贝区域+DNA结构正常",55247,"4q34.3","NM_018248.2"]
["12307A(99)v30249",86,86,1,"12307A","NELL1","chr11:20805286","c.245G>A(E3)","p.82,R>Q","rs8176785",0.64,0.83,0.88,0.79,0.83,0.86,"纯合","无关","有rs号，MAF>=5%","17684544;22495925",{"$nulls":3},5,null,4,0,"NELL1",1,220,"错义",12210,"0.99=153/154","位于基因组单拷贝区域+DNA结构正常",4745,"11p15.1","NM_006157.3"]
["12307A(99)v30552",136,65,0.48,"12307A","NEXN","chr1:78392446","c.541G>A(E7)","p.181,G>R","rs1166698",0.15,0.4,0.39,0.41,0.38,0.39,"杂合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病20型","AD",613876,5,1,1,2,"NEXN",1,280,"错义",12210,"0.44=111/255","位于基因组单拷贝区域+DNA结构正常",91624,"1p31.1","NM_001172309.1"]
["12307A(99)v25216",3,2,0.67,"12307A","NHP2L1","chr22:42070793","m.644C>T(E3)","非编码区","rs132806",0.21,0.28,0.3,0.26,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NHP2L1",1,71,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",4809,"22q13","NM_001003796.1"]
["12307A(99)v10927",97,48,0.49,"12307A","NID2","chr14:52505589","c.2133G>A(E9)","p.711,H>H","rs17853446",0.046,0.029,0.038,0.019,0.031,0.034,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"NID2",1,110,"同义",13103,"0.50=81/161","位于基因组单拷贝区域+DNA结构正常",22795,"14q22.1","NM_007361.3"]
["12307A(99)v30646",104,104,1,"12307A","NIPAL3","chr1:24785393","c.789C>T(E9)","p.263,A>A","rs2272935",0.31,0.44,0.41,0.47,0.5,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NIPAL3",1,120,"同义",13203,"1.00=181/181","位于基因组单拷贝区域+DNA结构正常",57185,"1p36.12-p35.1","NM_020448.4"]
["12307A(99)v14233",9,9,1,"12307A","NLRC5","chr16:57071114","c.2719A>G(E14)","p.907,N>D","rs1672867",0.99,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"NLRC5",0.99,61,"错义",12220,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",84166,"16q13","NM_032206.4"]
["12307A(99)v26779",19,19,1,"12307A","NLRP4","chr19:56393051","m.3505T>C(E10)","非编码区","rs302457",0.81,0.86,0.83,0.89,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"NLRP4",1,120,"非编码区",14200,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",147945,"19q13.43","NM_134444.4"]
["12307A(99)v19106",58,32,0.55,"12307A","NLRP8","chr19:56459614","c.346G>C(E1)","p.116,V>L","rs306506",0.73,0.81,0.78,0.83,0.82,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"NLRP8",1,150,"错义",12220,"0.49=45/91","位于基因组单拷贝区域+DNA结构正常",126205,"19q13.43","NM_176811.2"]
["12307A(99)v3159",30,11,0.37,"12307A","NMUR2","chr5:151771673","m.1493A>T(E4)","非编码区","rs4958303",0.12,0.043,0.029,0.058,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NMUR2",1,120,"非编码区",14200,"0.33=15/45","位于基因组单拷贝区域+DNA结构正常",56923,"5q33.1","NM_020167.4"]
["12307A(99)v25335",73,35,0.48,"12307A","NOL11","chr17:65714129","c.66C>T(E1)","p.22,L>L","rs139874546",0.0008,0.0048,0.0048,0.0049,null,0.0016,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"NOL11",1,270,"同义",13103,"0.44=62/141","位于基因组单拷贝区域+DNA结构正常",25926,"17q24.2","NM_015462.3"]
["12307A(99)v22313",1,1,1,"12307A","NOP56","chr20:2633234","m.57T>G(E1)","非编码区","rs6115305",0.86,0.86,0.83,0.89,0.64,null,"纯合","无关","有rs号，MAF>=5%",null,"脊髓小脑性共济失调36型","AD",614153,5,1,7,1,"NOP56",1,110,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",10528,"20p13","NM_006392.3"]
["12307A(99)v23731",1,1,1,"12307A","NOTCH1","chr9:139411714","IVS9+10T>C","非编码区","rs11145767",0.61,0.87,0.84,0.9,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"主动脉瓣疾病1型","AD",109730,5,1,8,2,"NOTCH1",0.79,8.2,"非编码区",16203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",4851,"9q34.3","NM_017617.3"]
["12307A(99)v7734",10,10,1,"12307A","NOTCH3","chr19:15302844","c.606T>C(E4)","p.202,A>A","rs1043994",0.86,0.87,0.89,0.84,0.78,0.87,"纯合","无关","有rs号，MAF>=5%","16426270;22006983;22373597","常显遗传脑动脉病及动脉硬化伴皮质下梗死及白质脑病","AD",125310,5,1,7,2,"NOTCH3",0.85,17,"同义",13203,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",4854,"19p13.2-p13.1","NM_000435.2"]
["12307A(99)v12986",58,35,0.6,"12307A","NPAP1","chr15:24923390","c.2376C>T(E1)","p.792,F>F","rs60574723",0.43,0.44,0.44,0.44,0.47,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NPAP1",1,94,"同义",13203,"0.65=68/105","位于基因组单拷贝区域+DNA结构正常",23742,"15q11-q13","NM_018958.2"]
["12307A(99)v16651",223,57,0.26,"12307A","NPIPL2","chr16:74425569","c.929C>T(E10)","p.310,P>L","rs11641596",{"$nulls":4},0.42,0.43,"杂合","未知","未知",{"$nulls":4},3,null,7,0,"NPIPL2",0.87,270,"错义",12330,"0.22=95/423","位于基因组多拷贝区域+DNA结构正常",440348,"16q23.1","XM_003118720.3"]
["12307A(99)v14713",154,81,0.53,"12307A","NPSR1","chr7:34818113","c.320A>T(E3)","p.107,N>I","rs324981",0.47,0.51,0.54,0.49,0.51,0.53,"杂合","无关","有rs号，MAF>=5%","16522461;17702965;17903308;18340359;20179762;20603625;21525857;22078257;22399050;23319044;23325374;23663310;23680103;24331455;24754478;24800784;24896296","哮喘相关症状易感2型",null,608584,5,2,5,1,"NPSR1",1,200,"错义",12220,"0.54=142/262","位于基因组单拷贝区域+DNA结构正常",387129,"7p14.3","NM_207172.1"]
["12307A(99)v17323",81,34,0.42,"12307A","NRAP","chr10:115409840","c.844C>T(E9)","p.282,A>T","rs2275799",0.27,0.24,0.26,0.21,0.22,0.21,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,17,0,"NRAP",1,180,"错义",12220,"0.44=58/133","位于基因组单拷贝区域+DNA结构正常",4892,"10q24-q26","NM_001261463.1"]
["12307A(99)v12339",155,154,0.99,"12307A","NRP1","chr10:33510768","c.1161G>A(E8)","p.387,P>P","rs2229934",0.36,0.67,0.65,0.68,0.64,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"NRP1",1,190,"同义",13203,"1.00=270/271","位于基因组单拷贝区域+DNA结构正常",8829,"10p12","NM_001024628.2"]
["12307A(99)v29023",2,2,1,"12307A","NSL1","chr1:212905898","m.6817G>A(E7)","非编码区","rs2501836",0.85,0.89,0.92,0.86,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NSL1",0.91,170,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",25936,"1q41","NM_001042549.1"]
["12307A(99)v29843",2,2,1,"12307A","NSUN2","chr5:6633105","m.369C>G(E1)","非编码区","rs558458633",0.0004,0.0048,0,0.0097,0.016,0,"纯合","未知","UTR突变可能影响蛋白翻译",null,"常染色体隐性遗传智力迟滞5型","AR",611091,3,1,5,1,"NSUN2",1,210,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54888,"5p15.31","NM_001193455.1"]
["12307A(99)v20081",4,4,1,"12307A","NUBP2","chr16:1838640","c.741T>C(E7)","p.247,P>P","rs344359",0.82,0.72,0.74,0.7,0.66,0.75,"纯合","无关","有rs号，MAF>=5%",18791227,{"$nulls":3},5,null,3,0,"NUBP2",0.98,15,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",10101,"16p13.3","NM_012225.2"]
["12307A(99)v15353",53,23,0.43,"12307A","NUMA1","chr11:71714526","m.6567G>C(E27)","非编码区","rs949324",0.87,0.84,0.84,0.83,0.84,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NUMA1",0.98,45,"非编码区",14200,"0.44=42/95","位于基因组单拷贝区域+DNA结构正常",4926,"11q13","NM_006185.2"]
["12307A(99)v21982",11,3,0.27,"12307A","NUP210","chr3:13368892","c.4332G>A(E32)","p.1444,C>C","rs2271509",0.4,0.31,0.27,0.36,0.28,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"NUP210",0.97,71,"同义",13203,"0.20=3/15","位于基因组单拷贝区域+DNA结构正常",23225,"3p25.1","NM_024923.2"]
["12307A(99)v4315",76,75,0.99,"12307A","NUP93","chr16:56855496","c.276C>G(E5)","p.92,L>L","rs2118017",0.88,0.9,0.91,0.89,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NUP93",1,170,"同义",13203,"0.99=135/136","位于基因组单拷贝区域+DNA结构正常",9688,"16q13","NM_001242795.1"]
["12307A(99)v5816",3,3,1,"12307A","OASL","chr12:121458138","m.1652G>A(E4)","非编码区","rs2259697",0.78,0.86,0.85,0.87,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OASL",1,74,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",8638,"12q24.2","NM_001261825.1"]
["12307A(99)v29250",39,12,0.31,"12307A","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%",{"$nulls":4},5,null,49,0,"OBSCN",0.96,27,"错义",12220,"0.29=18/62","位于基因组多拷贝区域+DNA结构正常",84033,"1q42.13","NM_001098623.2"]
["12307A(99)v23739",172,172,1,"12307A","OCA2","chr15:28231793","IVS11-4T>C","剪切位点","rs10852218",0.69,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"眼皮肤白化病2型","AR",203200,5,1,5,2,"OCA2",0.99,150,"剪切位点",16202,"1.00=325/325","位于基因组单拷贝区域+DNA结构正常",4948,"15q","NM_000275.2"]
["12307A(99)v28768",165,164,0.99,"12307A","ODAM","chr4:71062256","m.13C>T(E1)","非编码区","rs3756132",0.28,0.27,0.3,0.23,0.21,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ODAM",1,290,"非编码区",14200,"1.00=319/320","位于基因组单拷贝区域+DNA结构正常",54959,"4q13.3","NM_017855.3"]
["12307A(99)v718",22,11,0.5,"12307A","OGFOD2","chr12:123460823","m.396A>G(E3)","非编码区","rs883563",0.75,0.83,0.88,0.79,null,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OGFOD2",1,15,"非编码区",14200,"0.56=15/27","位于基因组单拷贝区域+DNA结构正常",79676,"12q24.31","NM_024623.1"]
["12307A(99)v21872",63,34,0.54,"12307A","OPALIN","chr10:98105622","m.872T>C(E4)","非编码区","rs3814224",0.25,0.52,0.55,0.49,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OPALIN",1,180,"非编码区",14200,"0.48=48/99","位于基因组单拷贝区域+DNA结构正常",93377,"10q23-q24","NM_001040102.1"]
["12307A(99)v30083",75,34,0.45,"12307A","OPTN","chr10:13158262","IVS6-5C>T","剪切位点","rs2244380",0.8,0.72,0.75,0.7,0.7,0.73,"杂合","无关","有rs号，MAF>=5%",null,"肌萎缩侧索硬化症12型",null,613435,5,2,3,3,"OPTN",1,190,"剪切位点",16202,"0.40=56/140","位于基因组单拷贝区域+DNA结构正常",10133,"10p13","NM_001008211.1"]
["12307A(99)v2547",61,55,0.9,"12307A","OR10H5","chr19:15905529","c.671C>A(E1)","p.224,A>D","rs62621417",0.27,0.64,0.69,0.6,0.56,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR10H5",1,120,"错义",12210,"0.87=68/78","位于基因组多拷贝区域+DNA结构正常",284433,"19p13.12","NM_001004466.1"]
["12307A(99)v263",98,98,1,"12307A","OR10X1","chr1:158549511","c.179A>G(E1)","p.60,I>T","rs863363",0.52,0.62,0.59,0.65,0.61,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR10X1",1,130,"错义",12220,"1.00=182/182","位于基因组单拷贝区域+DNA结构正常",128367,"1q23.1","NM_001004477.1"]
["12307A(99)v1771",63,63,1,"12307A","OR13F1","chr9:107266943","c.400G>A(E1)","p.134,V>I","rs1403811",0.78,0.77,0.77,0.77,0.75,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR13F1",1,110,"错义",12220,"0.98=105/107","位于基因组多拷贝区域+DNA结构正常",138805,"9q31.1","NM_001004485.1"]
["12307A(99)v10233",90,77,0.86,"12307A","OR1D5","chr17:2966032","c.870C>G(E1)","p.290,R>S","rs202049082",{"$nulls":4},0.55,0.65,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"OR1D5",1,140,"错义",12320,"0.80=105/131","位于基因组多拷贝区域+DNA结构正常",8386,"17p13.3","NM_014566.1"]
["12307A(99)v7451",129,128,0.99,"12307A","OR1S1","chr11:57982229","c.13A>G(E1)","p.5,S>G","rs1966836",0.66,0.85,0.85,0.84,0.8,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"OR1S1",1,210,"错义",12220,"1.00=201/202","位于基因组多拷贝区域+DNA结构正常",219959,"11q12.1","NM_001004458.1"]
["12307A(99)v29852",49,1,0.02,"12307A","OR2AT4","chr11:74800161-74800161","c.598(E1):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,1,0,"OR2AT4",1,94,"缺失移码",2140,"0.04=2/50","位于基因组多拷贝区域+简单重复结构",341152,"11q13.4","NM_001005285.1"]
["12307A(99)v17256",144,71,0.49,"12307A","OR2M2","chr1:248343990","c.703T>C(E1)","p.235,C>R","rs4916104",0.58,0.41,0.42,0.41,0.41,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR2M2",1,300,"错义",12220,"0.49=118/240","位于基因组多拷贝区域+DNA结构正常",391194,"1q44","NM_001004688.1"]
["12307A(99)v5807",65,65,1,"12307A","OR2T11","chr1:248790075","c.355A>G(E1)","p.119,C>R","rs1892443",0.91,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR2T11",1,73,"错义",12220,"1.00=97/97","位于基因组多拷贝区域+DNA结构正常",127077,"1q44","NM_001001964.1"]
["12307A(99)v3999",169,161,0.95,"12307A","OR2T33","chr1:248436805","c.312T>G(E1)","p.104,T>T","rs28399248",{"$nulls":4},0.61,0.78,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"OR2T33",1,330,"同义",13303,"0.96=260/272","位于基因组多拷贝区域+DNA结构正常",391195,"1q44","NM_001004695.1"]
["12307A(99)v4647",109,108,0.99,"12307A","OR4C16","chr11:55340379","c.776T>C(E1)","p.259,L>P","rs559449",0.48,0.52,0.5,0.55,0.49,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR4C16",1,150,"错义",12220,"1.00=211/212","位于基因组单拷贝区域+DNA结构正常",219428,"11q11","NM_001004701.2"]
["12307A(99)v22548",68,67,0.99,"12307A","OR4E2","chr14:22133648","c.352G>A(E1)","p.118,V>M","rs2874103",0.72,0.51,0.46,0.55,0.54,0.53,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR4E2",1,150,"错义",12220,"0.99=95/96","位于基因组单拷贝区域+DNA结构正常",26686,"14q11.2","NM_001001912.1"]
["12307A(99)v8846",47,47,1,"12307A","OR4X1","chr11:48285856","c.444C>T(E1)","p.148,G>G","rs10838850",0.6,0.59,0.55,0.63,0.6,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR4X1",1,110,"同义",13203,"1.00=74/74","位于基因组多拷贝区域+DNA结构正常",390113,"11p11.2","NM_001004726.1"]
["12307A(99)v5990",87,47,0.54,"12307A","OR51I1","chr11:5462374","c.371C>T(E1)","p.124,R>H","rs16930982",0.13,0.34,0.37,0.32,0.34,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR51I1",1,120,"错义",12210,"0.51=74/146","位于基因组单拷贝区域+DNA结构正常",390063,"11p15.4","NM_001005288.2"]
["12307A(99)v12101",58,58,1,"12307A","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%",{"$nulls":4},5,null,5,0,"OR52H1",1,94,"错义",12220,"1.00=101/101","位于基因组多拷贝区域+DNA结构正常",390067,"11p15.4","NM_001005289.1"]
["12307A(99)v19778",90,41,0.46,"12307A","OR52L1","chr11:6007899","c.262C>T(E1)","p.88,D>N","rs4501959",0.17,0.3,0.32,0.28,0.31,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR52L1",1,120,"错义",12210,"0.44=65/147","位于基因组多拷贝区域+DNA结构正常",338751,"11p15.4","NM_001005173.2"]
["12307A(99)v22416",73,73,1,"12307A","OR5D16","chr11:55606818","c.591C>T(E1)","p.197,S>S","rs11231253",0.45,0.62,0.64,0.61,0.6,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR5D16",1,170,"同义",13203,"0.98=117/119","位于基因组单拷贝区域+DNA结构正常",390144,"11q11","NM_001005496.1"]
["12307A(99)v11265",37,37,1,"12307A","OR5P2","chr11:7817959","c.531G>A(E1)","p.177,F>F","rs73406603",0.24,0.15,0.16,0.14,0.084,0.13,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"OR5P2",1,80,"同义",13203,"1.00=60/60","位于基因组多拷贝区域+DNA结构正常",120065,"11p15.4","NM_153444.1"]
["12307A(99)v1526",31,31,1,"12307A","OR6S1","chr14:21109278","c.573A>T(E1)","p.191,A>A","rs11627438",0.45,0.24,0.24,0.23,0.21,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR6S1",1,120,"同义",13203,"1.00=40/40","位于基因组单拷贝区域+DNA结构正常",341799,"14q11.2","NM_001001968.1"]
["12307A(99)v30329",165,164,0.99,"12307A","OR7G2","chr19:9213132","c.851A>G(E1)","p.284,V>A","rs12610094",0.4,0.6,0.6,0.59,0.65,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR7G2",1,150,"错义",12220,"1.00=292/293","位于基因组多拷贝区域+DNA结构正常",390882,"19p13.2","NM_001005193.1"]
["12307A(99)v12220",156,58,0.37,"12307A","OR8B2","chr11:124253147","c.93A>G(E1)","p.31,F>F","rs530704",{"$nulls":4},0.22,0.24,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"OR8B2",1,230,"同义",13303,"0.34=96/281","位于基因组多拷贝区域+DNA结构正常",26595,"11q24.1","NM_001005468.1"]
["12307A(99)v400",163,77,0.47,"12307A","OR9G1","chr11:56468646","c.783C>T(E1)","p.261,P>P","rs78493274",{"$nulls":4},0.45,0.48,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,19,0,"OR9G1",1,210,"同义",13303,"0.47=120/258","位于基因组多拷贝区域+DNA结构正常",390174,"11q12.1","NM_001005213.1"]
["12307A(99)v21316",3,1,0.33,"12307A","ORAI1","chr12:122064918","c.271T>C(E1)","p.91,S>P",{"$nulls":7},"杂合","未知","未知",null,"管状聚集性肌病2型","AD",615883,3,1,3,2,"ORAI1",0.9,7.6,"错义",12430,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",84876,"12q24.31","NM_032790.3"]
["12307A(99)v1052",402,176,0.44,"12307A","OTOA","chr16:21742188","c.2001G>A(E16)","p.667,T>T","rs76494517",{"$nulls":4},0.28,0.29,"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22型","AR",607039,4,3,3,1,"OTOA",0.99,200,"同义",13303,"0.45=365/818","位于基因组多拷贝区域+DNA结构正常",146183,"16p12.2|16p12.2","NM_001161683.1"]
["12307A(99)v6933",165,165,1,"12307A","OTOGL","chr12:80752660","c.6220A>G(E51)","p.2074,I>V","rs2034528",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传耳聋84B型","AR",614944,5,1,8,1,"OTOGL",0.97,250,"错义",12220,"1.00=285/285","位于基因组单拷贝区域+DNA结构正常",283310,"12q21.31","NM_173591.3"]
["12307A(99)v22636",106,50,0.47,"12307A","OXGR1","chr13:97639840","c.174G>A(E4)","p.58,Y>Y","rs199833547",0.0002,0.0024,0,0.0049,null,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"OXGR1",1,160,"同义",13103,"0.45=69/154","位于基因组单拷贝区域+DNA结构正常",27199,"13q32.1","NM_080818.3"]
["12307A(99)v15131",40,24,0.6,"12307A","P2RX4","chr12:121670792","IVS11-8A>G","剪切位点","rs2071272",0.059,0.075,0.062,0.087,null,0.06,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"P2RX4",0.89,100,"剪切位点",16202,"0.58=40/69","位于基因组单拷贝区域+DNA结构正常",5025,"12q24.32","NM_001256796.1"]
["12307A(99)v13929",75,75,1,"12307A","P2RY13","chr3:151046308","c.536G>A(E2)","p.179,T>M","rs1466684",0.9,0.82,0.84,0.79,0.81,0.84,"纯合","无关","有rs号，MAF>=5%",18213371,{"$nulls":3},5,null,2,0,"P2RY13",1,160,"错义",12220,"1.00=119/119","位于基因组单拷贝区域+DNA结构正常",53829,"3q24","NM_176894.2"]
["12307A(99)v2267",106,106,1,"12307A","PAK7","chr20:9546554","c.1468G>A(E6)","p.490,L>L","rs6133723",0.08,0.28,0.24,0.31,0.33,0.28,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PAK7",1,180,"同义",13203,"1.00=200/201","位于基因组单拷贝区域+DNA结构正常",57144,"20p12","NM_020341.3"]
["12307A(99)v16821",9,9,1,"12307A","PALM2-AKAP2","chr9:112899361","c.1537A>C(E8)","p.513,K>Q","rs4978872",0.93,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PALM2-AKAP2",1,120,"错义",12220,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",445815,"9q31.3","NM_007203.4"]
["12307A(99)v15515",1,1,1,"12307A","PARD3","chr10:34601215","m.3491G>T(E21)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"PARD3",0.99,200,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",56288,"10p11.21","NM_001184792.1"]
["12307A(99)v1668",73,39,0.53,"12307A","PARK2","chr6:162622197","c.500C>T(E4)","p.167,S>N","rs1801474",0.12,0.37,0.37,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%","10319889;12975291","帕金森病2型（AR遗传早发型）青少年型","AR",600116,5,3,1,4,"PARK2",1,140,"错义",12220,"0.53=69/130","位于基因组单拷贝区域+DNA结构正常",5071,"6q25.2-q27","NM_004562.2"]
["12307A(99)v26610",65,65,1,"12307A","PATE1","chr11:125617610","c.140A>G(E4)","p.47,Q>R","rs2114084",0.34,0.43,0.44,0.42,0.39,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PATE1",1,200,"错义",12220,"1.00=100/100","位于基因组单拷贝区域+DNA结构正常",160065,"11q24.2","NM_138294.2"]
["12307A(99)v15239",17,12,0.71,"12307A","PAX3","chr2:223158653-223158653","m.1200(E4):缺失T","非编码区","rs10712898",1,1,1,1,0.41,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"横纹肌肉瘤2型","AR",268220,4,3,2,4,"PAX3",1,150,"非编码区",2420,"0.71=12/17","位于基因组单拷贝区域+DNA结构正常",5077,"2q35","NM_000438.5"]
["12307A(99)v25375",25,10,0.4,"12307A","PCDH15","chr10:55582905","c.4602G>T(E35)","p.1534,P>P","rs10825114",0.28,0.72,0.75,0.69,0.66,0.74,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传耳聋23型","AR",609533,5,3,4,3,"PCDH15",1,230,"同义",13203,"0.43=20/46","位于基因组单拷贝区域+DNA结构正常",65217,"10q21.1","NM_001142763.1"]
["12307A(99)v22177",7,2,0.29,"12307A","PCDHA10","chr5:140237109","c.1476T>G(E1)","p.492,S>S","rs251363",0.61,0.42,0.36,0.49,0.39,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PCDHA10",1,95,"同义",13203,"0.22=2/9","位于基因组多拷贝区域+DNA结构正常",56139,"5q31","NM_018901.2"]
["12307A(99)v24137",14,9,0.64,"12307A","PCDHAC1","chr5:140309016","m.2715C>T(E1)","非编码区","rs155360",0.59,0.65,0.7,0.61,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PCDHAC1",1,100,"非编码区",14200,"0.60=9/15","位于基因组单拷贝区域+DNA结构正常",56135,"5q31","NM_031882.2"]
["12307A(99)v20765",9,6,0.67,"12307A","PCDHB11","chr5:140580931","c.1584C>G(E1)","p.528,D>E","rs799834",0.56,0.56,0.54,0.58,0.5,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PCDHB11",1,120,"错义",12220,"0.60=9/15","位于基因组多拷贝区域+DNA结构正常",56125,"5q31","NM_018931.2"]
["12307A(99)v30900",5,4,0.8,"12307A","PCDHB3","chr5:140482871","m.2638T>G(E1)","非编码区","rs7722330",0.28,0.47,0.5,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PCDHB3",1,110,"非编码区",14200,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",56132,"5q31","NM_018937.2"]
["12307A(99)v17816",149,71,0.48,"12307A","PCDHGA4","chr5:140735215","c.448G>A(E1)","p.150,A>T","rs11575949",0.13,0.038,0.043,0.034,0.047,0.043,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PCDHGA4",1,91,"错义",12220,"0.50=141/284","位于基因组单拷贝区域+DNA结构正常",56111,"5q31","NM_018917.2"]
["12307A(99)v17007",71,30,0.42,"12307A","PCDHGB4","chr5:140767989","c.538C>T(E1)","p.180,L>L","rs68033444",0.072,0.038,0.043,0.034,0.043,0.041,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PCDHGB4",1,100,"同义",13203,"0.39=40/103","位于基因组单拷贝区域+DNA结构正常",8641,"5q31","NM_003736.2"]
["12307A(99)v15770",21,10,0.48,"12307A","PCNT","chr21:47851753","c.8375A>G(E38)","p.2792,Q>R","rs2073376",0.67,0.62,0.6,0.65,0.6,0.65,"杂合","无关","有rs号，MAF>=5%",19448849,"小头骨性增生异常侏儒症2型","AR",210720,5,3,12,1,"PCNT",0.99,86,"错义",12220,"0.52=17/33","位于基因组单拷贝区域+DNA结构正常",5116,"21q22.3","NM_006031.5"]
["12307A(99)v15777",4,4,1,"12307A","PCNT","chr21:47783796","c.2556T>C(E14)","p.852,A>A","rs8131546",0.85,0.82,0.85,0.78,0.67,null,"纯合","无关","有rs号，MAF>=5%",null,"小头骨性增生异常侏儒症2型","AR",210720,5,1,12,1,"PCNT",0.99,86,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",5116,"21q22.3","NM_006031.5"]
["12307A(99)v25330",182,89,0.49,"12307A","PDCD6IP","chr3:33877626","c.940G>A(E8)","p.314,A>T","rs3792594",0.33,0.41,0.44,0.39,0.41,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PDCD6IP",1,220,"错义",12220,"0.48=158/329","位于基因组单拷贝区域+DNA结构正常",10015,"3p22.3","NM_001162429.2"]
["12307A(99)v19615",46,45,0.98,"12307A","PDE1B","chr12:54970454","c.1476T>C(E14)","p.492,N>N","rs1249950",0.5,0.42,0.46,0.38,0.37,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PDE1B",1,120,"同义",13203,"0.97=77/79","位于基因组单拷贝区域+DNA结构正常",5153,"12q13","NM_000924.3"]
["12307A(99)v19041",189,43,0.23,"12307A","PDE4DIP","chr1:144875979","c.4569G>C(E32)","p.1523,L>L","rs71664005",{"$nulls":4},0.34,0.4,"杂合","未知","剪切位点预测容忍或无害的同义突变",{"$nulls":4},4,null,69,0,"PDE4DIP",1,250,"剪切位点",13302,"0.22=76/353","位于基因组多拷贝区域+DNA结构正常",9659,"1q12","NM_001198832.1"]
["12307A(99)v19058",37,23,0.62,"12307A","PDE4DIP","chr1:144871738","c.5224C>A(E32)","p.1742,A>S","rs1698605",{"$nulls":4},0.46,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,69,0,"PDE4DIP",1,250,"错义",12320,"0.65=33/51","位于基因组多拷贝区域+DNA结构正常",9659,"1q12","NM_001198834.2"]
["12307A(99)v19341",76,76,1,"12307A","PDGFRA","chr4:55141055","c.1701A>G(E12)","p.567,P>P","rs1873778",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","17014709;19563658","胃肠道间质瘤","AD",606764,5,1,3,2,"PDGFRA",1,180,"同义",13203,"1.00=118/118","位于基因组单拷贝区域+DNA结构正常",5156,"4q12","NM_006206.4"]
["12307A(99)v18941",155,75,0.48,"12307A","PDHX","chr11:34991727","c.813T>C(E7)","p.271,V>V","rs497582",0.57,0.72,0.7,0.74,0.7,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PDHX",1,230,"同义",13203,"0.46=122/266","位于基因组单拷贝区域+DNA结构正常",8050,"11p13","NM_001135024.1"]
["12307A(99)v20281",6,1,0.17,"12307A","PDLIM7","chr5:176919539","c.236A>T(E3)","p.79,L>Q",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"PDLIM7",1,27,"错义",12410,"0.27=3/11","位于基因组单拷贝区域+DNA结构正常",9260,"5q35.3","NM_005451.3"]
["12307A(99)v8597",113,112,0.99,"12307A","PDZRN3","chr3:73437112","IVS8+7A>G","非编码区","rs6549532",0.78,0.88,0.87,0.89,null,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PDZRN3",0.83,68,"非编码区",16203,"0.99=215/218","位于基因组单拷贝区域+DNA结构正常",23024,"3p13","NM_015009.1"]
["12307A(99)v11795",23,5,0.22,"12307A","PEAR1","chr1:156883493","c.2654G>A(E21)","p.885,R>H","rs11264581",0.23,0.48,0.5,0.47,0.41,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PEAR1",0.98,45,"错义",12220,"0.24=10/41","位于基因组单拷贝区域+DNA结构正常",375033,"1q23.1","NM_001080471.1"]
["12307A(99)v6116",104,104,1,"12307A","PEX2","chr8:77895865","c.550A>G(E4)","p.184,C>R","rs10087163",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"Zellweger综合征，过氧化物酶体生成障碍5A型","AR",614866,5,1,1,2,"PEX2",1,160,"错义",12230,"1.00=150/150","位于基因组单拷贝区域+DNA结构正常",5828,"8q21.1","NM_000318.2"]
["12307A(99)v7320",9,7,0.78,"12307A","PGBD2","chr1:249212725","m.1412T>C(E3)","非编码区","rs41311595",0.031,0.07,0.052,0.087,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"PGBD2",1,85,"非编码区",14100,"0.83=10/12","位于基因组单拷贝区域+DNA结构正常",267002,"1q44","NM_001017434.1"]
["12307A(99)v10278",175,80,0.46,"12307A","PHC1","chr12:9086898","c.2077A>G(E10)","p.693,T>A","rs1049925",null,0.43,0.41,0.44,0.42,0.4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"先天性小头畸形11型","AR",615414,3,3,5,1,"PHC1",1,130,"错义",12320,"0.48=165/345","位于基因组多拷贝区域+DNA结构正常",1911,"12p13","NM_004426.2"]
["12307A(99)v1560",21,1,0.05,"12307A","PHF12","chr17:27239417","m.2702G>T(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,1,0,"PHF12",1,93,"非编码区",14400,"0.11=4/36","位于基因组单拷贝区域+DNA结构正常",57649,"17q11.2","NM_020889.2"]
["12307A(99)v17129",98,1,0.01,"12307A","PI15","chr8:75761539-75761540","m.1007(E6)至m.1008(E6):缺失TA","非编码区","rs141226749",{"$nulls":4},0,0.044,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"PI15",1,280,"非编码区",2430,"0.02=2/105","位于基因组单拷贝区域+简单重复结构",51050,"8q21.11","NM_015886.3"]
["12307A(99)v10947",240,64,0.27,"12307A","PI4K2B","chr4:25265393-25265395","c.1000(E7)至c.1002(E7):缺失GAA","缺失非移码","rs141109382",0.0034,0.026,0.024,0.029,0.0077,0.022,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"PI4K2B",0.81,220,"缺失非移码",2211,"0.27=73/272","位于基因组单拷贝区域+DNA结构正常",55300,"4p15.2","NM_018323.3"]
["12307A(99)v24934",173,90,0.52,"12307A","PIEZO2","chr18:10797362","IVS12+10T>G","非编码区","rs7407224",0.25,0.37,0.4,0.34,0.22,0.34,"杂合","无关","有rs号，MAF>=5%",null,"远端关节弯曲5型","AD",108145,5,1,7,3,"PIEZO2",1,200,"非编码区",16203,"0.52=150/290","位于基因组多拷贝区域+DNA结构正常",63895,"18p11.22","NM_022068.2"]
["12307A(99)v1738",19,8,0.42,"12307A","PIGT","chr20:44054349","c.1452T>C(E11)","p.484,Y>Y","rs707577",0.71,0.48,0.5,0.46,0.47,0.53,"杂合","无关","有rs号，MAF>=5%",null,"多重先天性异常，肌张力低下，癫痫综合征3型","AR",615398,5,3,2,2,"PIGT",1,91,"同义",13203,"0.43=12/28","位于基因组单拷贝区域+DNA结构正常",51604,"20q12-q13.12","NM_001184728.2"]
["12307A(99)v8259",150,150,1,"12307A","PIKFYVE","chr2:209184980","c.2087G>A(E17)","p.696,S>N","rs10932258",0.99,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"Fleck角膜营养不良","AD",121850,5,1,11,1,"PIKFYVE",1,250,"错义",12220,"1.00=287/287","位于基因组单拷贝区域+DNA结构正常",200576,"2q34","NM_015040.3"]
["12307A(99)v8263",85,84,0.99,"12307A","PIKFYVE","chr2:209191099","c.3564T>C(E20)","p.1188,N>N","rs1529978",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null,"Fleck角膜营养不良","AD",121850,5,1,11,1,"PIKFYVE",1,250,"同义",13203,"0.99=142/143","位于基因组单拷贝区域+DNA结构正常",200576,"2q34","NM_015040.3"]
["12307A(99)v7342",10,3,0.3,"12307A","PITX3","chr10:103991381","c.285G>A(E3)","p.95,I>I","rs2281983",0.66,0.78,0.76,0.8,0.69,0.78,"杂合","无关","有rs号，MAF>=5%","19394114;19754401;21565251;22037506;22429667","前片段间叶细胞发育不良","AD",107250,5,1,1,2,"PITX3",0.86,7.4,"同义",13203,"0.40=8/20","位于基因组单拷贝区域+DNA结构正常",5309,"10q24.32","NM_005029.3"]
["12307A(99)v26755",174,173,0.99,"12307A","PKD1L3","chr16:71988106","c.2707C>T(E17)","p.903,V>I","rs9921412",0.79,0.98,0.98,0.98,0.96,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"PKD1L3",1,200,"错义",12220,"0.99=324/326","位于基因组单拷贝区域+DNA结构正常",342372,"16q22.2","NM_181536.1"]
["12307A(99)v7929",102,101,0.99,"12307A","PKD2L2","chr5:137259179","c.1454T>C(E10)","p.485,L>P","rs12187140",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PKD2L2",0.97,260,"错义",12220,"0.99=187/188","位于基因组单拷贝区域+DNA结构正常",27039,"5q31","NM_001258448.1"]
["12307A(99)v5056",110,60,0.55,"12307A","PLA1A","chr3:119327653","c.312T>C(E3)","p.104,F>F","rs1723969",0.34,0.49,0.48,0.51,0.43,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PLA1A",1,170,"同义",13203,"0.55=115/208","位于基因组单拷贝区域+DNA结构正常",51365,"3q13.13-q13.2","NM_001206960.1"]
["12307A(99)v8824",163,162,0.99,"12307A","PLA2R1","chr2:160833188","IVS16+8A>G","非编码区","rs2715918",0.82,0.89,0.89,0.88,0.84,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PLA2R1",1,260,"非编码区",16203,"1.00=314/315","位于基因组单拷贝区域+DNA结构正常",22925,"2q23-q24","NM_001007267.2"]
["12307A(99)v6187",86,85,0.99,"12307A","PLCG2","chr16:81929488","c.1149C>T(E13)","p.383,D>D","rs1143688",0.41,0.71,0.67,0.74,0.66,0.71,"纯合","无关","有rs号，MAF>=5%",null,"家族性寒冷性自身炎症综合征3型","AD",614468,5,1,6,2,"PLCG2",1,150,"同义",13203,"0.99=143/144","位于基因组单拷贝区域+DNA结构正常",5336,"16q24.1","NM_002661.3"]
["12307A(99)v16485",87,36,0.41,"12307A","PLCL2","chr3:17051328","c.165T>C(E1)","p.55,F>F","rs7653834",0.45,0.55,0.6,0.5,0.49,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PLCL2",1,150,"同义",13203,"0.44=63/144","位于基因组单拷贝区域+DNA结构正常",23228,"3p24.3","NM_001144382.1"]
["12307A(99)v6735",6,1,0.17,"12307A","PLEC","chr8:144996735","c.7443C>T(E32)","p.2481,E>E",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"肢带型肌营养不良症2Q型","AR",613723,4,3,4,4,"PLEC",0.79,9.9,"同义",13403,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",5339,"8q24","NM_000445.3"]
["12307A(99)v26443",2,1,0.5,"12307A","PLEKHG4B","chr5:171569","IVS14+10T>C","非编码区","rs4956981",0.55,0.25,0.26,0.24,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PLEKHG4B",0.98,60,"非编码区",16203,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",153478,"5p15.33","NM_052909.3"]
["12307A(99)v6474",2,1,0.5,"12307A","PLEKHN1","chr1:909363","c.1480A>C(E13)","p.494,R>R","rs62639990",0.064,0.094,0.09,0.097,0.053,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PLEKHN1",0.93,15,"同义",13203,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",84069,"1p36.33","NM_001160184.1"]
["12307A(99)v17079",191,181,0.95,"12307A","PLK1S1","chr20:21186161-21186162","c.1075(E6)至c.1076(E6):插入G","插入移码","rs11087346",1,1,1,1,0.2,1,"纯合","未知","有rs号，MAF>=5%的移码突变",null,"视网膜色素变性69型","AR",615780,4,1,2,1,"PLK1S1",1,250,"插入移码",2120,"0.95=214/225","位于基因组单拷贝区域+DNA结构正常",55857,"20p11.23","NM_001163022.1"]
["12307A(99)v19627",5,5,1,"12307A","PLP1","chrX:103031700-103031701","UTR:插入G","非编码区","rs397730564",null,1,1,1,0.55,null,"纯合","无关","不在基因上的突变",null,"脑白质营养不良伴髓鞘发育不良1型(佩梅病)","XR",312080,5,1,2,2,"PLP1",1,220,"非编码区",2600,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",5354,"Xq22","NM_000533.3"]
["12307A(99)v12899",19,5,0.26,"12307A","PLXNC1","chr12:94543506","c.759C>T(E1)","p.253,Y>Y","rs2230754",0.45,0.47,0.45,0.5,0.38,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PLXNC1",0.97,200,"同义",13203,"0.31=11/36","位于基因组单拷贝区域+DNA结构正常",10154,"12q23.3","NM_005761.2"]
["12307A(99)v22537",145,144,0.99,"12307A","PMP2","chr8:82357112","c.186T>C(E2)","p.62,E>E","rs2229015",0.35,0.72,0.76,0.68,0.67,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PMP2",1,370,"同义",13203,"1.00=267/268","位于基因组单拷贝区域+DNA结构正常",5375,"8q21.3-q22.1","NM_002677.3"]
["12307A(99)v26935",243,112,0.46,"12307A","PNLIPRP3","chr10:118228763","c.994T>C(E9)","p.332,F>L","rs7077408",0.18,0.23,0.2,0.26,0.25,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PNLIPRP3",1,370,"错义",12220,"0.46=245/534","位于基因组单拷贝区域+DNA结构正常",119548,"10q25.3","NM_001011709.2"]
["12307A(99)v11386",2,2,1,"12307A","PNPLA7","chr9:140374861","c.2483A>G(E23)","p.828,V>A","rs1891630",1,1,1,1,0.82,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PNPLA7",0.98,37,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",375775,"9q34.3","NM_001098537.1"]
["12307A(99)v2960",69,32,0.46,"12307A","POLE","chr12:133252796","IVS9-6C>G","剪切位点","rs4077170",0.57,0.35,0.36,0.34,0.32,0.3,"杂合","无关","有rs号，MAF>=5%",null,"结直肠癌（易感）12型","AD",615083,5,1,7,2,"POLE",0.99,88,"剪切位点",16202,"0.49=59/121","位于基因组单拷贝区域+DNA结构正常",5426,"12q24.3","NM_006231.2"]
["12307A(99)v30622",254,112,0.44,"12307A","POLN","chr4:2194953","c.999G>A(E5)","p.333,G>G","rs10002583",0.33,0.37,0.38,0.36,0.35,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"POLN",1,220,"同义",13203,"0.42=209/493","位于基因组单拷贝区域+DNA结构正常",353497,"4p16.3","NM_181808.2"]
["12307A(99)v2322",64,35,0.55,"12307A","POLR1B","chr2:113332421","IVS13-3T>C","剪切位点","rs10169344",0.21,0.32,0.3,0.34,null,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"POLR1B",1,200,"剪切位点",16202,"0.58=64/110","位于基因组单拷贝区域+DNA结构正常",84172,"2q13","NM_001137604.1"]
["12307A(99)v7743",96,53,0.55,"12307A","POM121","chr7:72418992","c.2983C>T(E16)","p.995,P>S","rs9955",0.14,0.27,0.3,0.23,0.29,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"POM121",1,160,"错义",12220,"0.54=84/157","位于基因组多拷贝区域+DNA结构正常",9883,"7q11.23","NM_001257190.1"]
["12307A(99)v31258",1,1,1,"12307A","POMT2","chr14:77786809","c.216G>T(E1)","p.72,R>R",{"$nulls":7},"纯合","未知","预测范围之外的同义突变",null,"Walker-Warburg综合征/肌营养不良-抗肌萎缩相关糖蛋白病（先天性伴有脑发育异常和眼畸形）A型2","AR",613150,4,1,6,3,"POMT2",0.96,130,"同义",13403,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",29954,"14q24","NM_013382.5"]
["12307A(99)v21837",48,48,1,"12307A","POPDC2","chr3:119361250","m.1302A>G(E4)","非编码区","rs8007",0.48,0.35,0.3,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"POPDC2",1,91,"非编码区",14200,"1.00=68/68","位于基因组单拷贝区域+DNA结构正常",64091,"3q13.33","NM_022135.2"]
["12307A(99)v239",51,51,1,"12307A","POTED","chr21:15011839","c.1413T>C(E10)","p.471,D>D","rs182477426",0.28,0.58,0.65,0.51,0.62,0.00092,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"POTED",1,650,"同义",13203,"1.00=66/66","位于基因组多拷贝区域+DNA结构正常",317754,"21q11.2","NM_174981.3"]
["12307A(99)v24629",2,2,1,"12307A","POU6F1","chr12:51607890","otherC>T","非编码区","rs10876154",0.5,0.34,0.36,0.32,null,null,"纯合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,4,0,"POU6F1",1,47,"非编码区",17000,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",5463,"12q13.13","NM_002702.3"]
["12307A(99)v28365",4,2,0.5,"12307A","PPAPDC3","chr9:134183503","c.645T>C(E2)","p.215,R>R","rs2986606",0.64,0.71,0.7,0.73,0.55,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PPAPDC3",0.99,5.7,"同义",13203,"0.60=3/5","位于基因组单拷贝区域+DNA结构正常",84814,"9q34.13","NM_032728.3"]
["12307A(99)v9791",11,3,0.27,"12307A","PPM1E","chr17:56833485-56833486","c.127(E1)至c.128(E1):插入CCGAACCCGAGT","插入非移码",{"$nulls":6},0,"杂合","未知","未知",{"$nulls":4},3,null,1,0,"PPM1E",1,120,"插入非移码",2243,"0.27=3/11","位于基因组单拷贝区域+DNA结构正常",22843,"17q22","NM_014906.4"]
["12307A(99)v8198",70,35,0.5,"12307A","PPP1R13B","chr14:104208286","c.1663G>T(E11)","p.555,P>T","rs143920315",0.0064,0.034,0.033,0.034,0.043,0.042,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"PPP1R13B",1,120,"错义",12110,"0.46=57/124","位于基因组单拷贝区域+DNA结构正常",23368,"14q32.33","NM_015316.2"]
["12307A(99)v11810",59,26,0.44,"12307A","PPP2R3A","chr3:135720673","c.333T>C(E2)","p.111,D>D","rs9872542",0.19,0.024,0.029,0.019,0.034,0.023,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PPP2R3A",1,220,"同义",13203,"0.41=41/101","位于基因组单拷贝区域+DNA结构正常",5523,"3q22.1","NM_002718.4"]
["12307A(99)v14742",146,36,0.25,"12307A","PPYR1","chr10:47086978","c.195G>A(E3)","p.65,V>V","rs3740294",0.17,0.34,0.36,0.32,0.36,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PPYR1",1,200,"同义",13203,"0.24=63/258","位于基因组单拷贝区域+DNA结构正常",5540,"10q11.2","NM_005972.4"]
["12307A(99)v7796",106,68,0.64,"12307A","PRAMEF1","chr1:12855878","c.1158A>C(E4)","p.386,R>S","rs1052908",{"$nulls":4},0.4,0.44,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,15,0,"PRAMEF1",1,210,"错义",12320,"0.65=99/153","位于基因组多拷贝区域+DNA结构正常",65121,"1p36.21","NM_023013.2"]
["12307A(99)v19589",69,11,0.16,"12307A","PRB4","chr12:11461706","c.211G>T(E3)","p.71,P>T","rs12308381",{"$nulls":4},0.44,0.27,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"PRB4",1,110,"错义",12310,"0.24=28/119","位于基因组多拷贝区域+DNA结构正常",5545,"12p13.2","NM_001261399.1"]
["12307A(99)v2664",25,13,0.52,"12307A","PRDM10","chr11:129785615","c.2478C>T(E17)","p.826,T>T","rs3734071",0.23,0.41,0.42,0.4,0.34,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PRDM10",1,140,"同义",13203,"0.46=17/37","位于基因组单拷贝区域+DNA结构正常",56980,"11q25","NM_020228.2"]
["12307A(99)v19470",19,8,0.42,"12307A","PREX1","chr20:47273726","c.1975C>T(E18)","p.659,V>M","rs55904123",0.16,0.16,0.17,0.15,0.12,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"PREX1",0.96,66,"错义",12220,"0.38=11/29","位于基因组单拷贝区域+DNA结构正常",57580,"20q13.13","NM_020820.3"]
["12307A(99)v23543",84,84,1,"12307A","PRICKLE1","chr12:42854208","c.1899A>G(E8)","p.633,F>F","rs3747563",0.27,0.31,0.32,0.29,0.3,0.27,"纯合","无关","有rs号，MAF>=5%",null,"进行性肌阵挛性癫痫1B型","AR",612437,5,1,5,1,"PRICKLE1",1,160,"同义",13203,"1.00=157/157","位于基因组单拷贝区域+DNA结构正常",144165,"12q12","NM_001144881.1"]
["12307A(99)v20774",64,64,1,"12307A","PRKCD","chr3:53223927","c.1782C>G(E18)","p.594,T>T","rs1075865",0.9,0.97,0.96,0.98,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",null,"常见变异型免疫缺陷9型","AR",615559,5,1,3,1,"PRKCD",1,93,"同义",13203,"1.00=118/118","位于基因组单拷贝区域+DNA结构正常",5580,"3p21.31","NM_006254.3"]
["12307A(99)v2400",13,13,1,"12307A","PRKD2","chr19:47177913","c.2504A>G(E19)","p.835,V>A","rs314665",1,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRKD2",1,47,"错义",12230,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",25865,"19q13.3","NM_001079880.1"]
["12307A(99)v1583",146,68,0.47,"12307A","PROS1","chr3:93593119","c.2001T>C(E15)","p.667,P>P","rs6123",0.39,0.55,0.56,0.54,0.57,0.57,"杂合","无关","有rs号，MAF>=5%",null,"蛋白S缺乏引起的遗传性常染色体隐性易栓症","AR",614514,5,3,1,2,"PROS1",1,280,"同义",13203,"0.42=111/266","位于基因组多拷贝区域+DNA结构正常",5627,"3q11.2","NM_000313.3"]
["12307A(99)v18293",17,10,0.59,"12307A","PRPH2","chr6:42666061","c.1013T>C(E3)","p.338,D>G","rs434102",null,0.86,0.87,0.85,0.77,0.86,"杂合","未知","蛋白结构预测结果为容忍或无害",22948568,"中心性晕轮样脉络膜营养不良","AD",613105,3,1,5,5,"PRPH2",1,70,"错义",12320,"0.58=14/24","位于基因组单拷贝区域+DNA结构正常",5961,"6p21.2-p12.3","NM_000322.4"]
["12307A(99)v23395",4,1,0.25,"12307A","PRR12","chr19:50098443","c.851G>A(E4)","p.284,R>H",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"PRR12",0.82,20,"错义",12410,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",57479,"19q13.33","NM_020719.1"]
["12307A(99)v21459",73,46,0.63,"12307A","PRRC2C","chr1:171509327","c.2716G>A(E16)","p.906,A>T","rs760644",0.8,0.87,0.86,0.89,0.89,0.89,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"PRRC2C",1,200,"错义",12220,"0.61=77/126","位于基因组单拷贝区域+DNA结构正常",23215,"1q23.3","NM_015172.3"]
["12307A(99)v24493",117,56,0.48,"12307A","PRSS58","chr7:141951998","m.878C>T(E6)","非编码区","rs1052410",0.2,0.16,0.15,0.17,null,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PRSS58",1,220,"非编码区",14200,"0.52=100/193","位于基因组单拷贝区域+DNA结构正常",136541,"7q34","NM_001001317.3"]
["12307A(99)v21594",110,110,1,"12307A","PRUNE2","chr9:79322674","c.4516A>G(E8)","p.1506,C>R","rs680775",0.79,0.94,0.92,0.95,0.94,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,23,0,"PRUNE2",1,130,"错义",12220,"1.00=211/211","位于基因组单拷贝区域+DNA结构正常",158471,"9q21.2","NM_015225.2"]
["12307A(99)v18750",15,4,0.27,"12307A","PRX","chr19:40901604","c.2655A>G(E7)","p.885,P>P","rs268672",0.53,0.25,0.23,0.27,0.2,0.19,"杂合","无关","有rs号，MAF>=5%",null,"遗传性运动感觉性神经病III型","AD,AR",145900,5,1,4,2,"PRX",0.94,19,"同义",13203,"0.22=4/18","位于基因组单拷贝区域+DNA结构正常",57716,"19q13.2","NM_181882.2"]
["12307A(99)v29095",2,2,1,"12307A","PSG5","chr19:43671979","m.1488C>T(E6)","非编码区","rs12463205",0.32,0.59,0.62,0.56,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PSG5",1,350,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",5673,"19q13.2","NM_001130014.1"]
["12307A(99)v2274",4,3,0.75,"12307A","PSMB11","chr14:23512343","m.968A>G(E1)","非编码区","rs57362684",0.11,0.12,0.13,0.11,null,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PSMB11",1,19,"非编码区",14200,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",122706,"14q11.2","NM_001099780.1"]
["12307A(99)v13755",127,60,0.47,"12307A","PSME4","chr2:54133744","c.2934T>C(E26)","p.978,S>S","rs805316",0.21,0.16,0.14,0.17,0.15,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PSME4",1,300,"同义",13203,"0.49=102/210","位于基因组单拷贝区域+DNA结构正常",23198,"2p16.2","NM_014614.2"]
["12307A(99)v31742",15,7,0.47,"12307A","PTCH2","chr1:45293518","c.2055A>G(E14)","p.685,A>A","rs7525308",0.45,0.5,0.47,0.53,0.51,0.48,"杂合","无关","有rs号，MAF>=5%",null,"基底细胞痣综合征","AD",109400,5,1,3,3,"PTCH2",1,36,"同义",13203,"0.57=16/28","位于基因组单拷贝区域+DNA结构正常",8643,"1p34.1","NM_001166292.1"]
["12307A(99)v27744",2,1,0.5,"12307A","PTEN","chr10:89726798","m.3813A>T(E9)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"神经胶质瘤,易感2型",null,613028,3,2,3,11,"PTEN",1,290,"非编码区",14400,"0.50=1/2","位于基因组单拷贝区域+DNA结构正常",5728,"10q23.3","NM_000314.4"]
["12307A(99)v21813",10,4,0.4,"12307A","PTF1A","chr10:23482992-23482994","m.1144(E2)至m.1146(E2):缺失GAT","非编码区","rs149560393",0.18,0.14,0.15,0.14,0.011,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"永久性新生儿糖尿病合并小脑发育不全/胰腺发育不全合并小脑发育不全","AR",609069,4,3,2,2,"PTF1A",0.68,51,"非编码区",2420,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",256297,"10p12.2","NM_178161.2"]
["12307A(99)v14452",47,22,0.47,"12307A","PTH2R","chr2:209358027","c.1296C>T(E13)","p.432,N>N","rs3820900",0.74,0.53,0.53,0.52,0.51,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PTH2R",1,220,"同义",13203,"0.49=35/71","位于基因组单拷贝区域+DNA结构正常",5746,"2q33","NM_005048.2"]
["12307A(99)v30041",163,82,0.5,"12307A","PTPRD","chr9:8389364","c.3024C>G(E21)","p.1008,G>G","rs2279776",0.56,0.68,0.67,0.68,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",23069849,{"$nulls":3},5,null,5,0,"PTPRD",1,220,"同义",13203,"0.49=131/270","位于基因组单拷贝区域+DNA结构正常",5789,"9p23-p24.3","NM_001040712.2"]
["12307A(99)v19348",151,150,0.99,"12307A","PTPRJ","chr11:48166267","c.2616G>C(E13)","p.872,E>D","rs4752904",0.37,0.43,0.35,0.51,0.45,0.42,"纯合","无关","有rs号，MAF>=5%",23341091,"结肠癌","AD",114500,5,1,3,1,"PTPRJ",0.98,160,"错义",12220,"0.98=259/263","位于基因组单拷贝区域+DNA结构正常",5795,"11p11.2","NM_002843.3"]
["12307A(99)v19393",4,2,0.5,"12307A","PTX4","chr16:1537455","c.643T>C(E2)","p.215,R>G","rs2667673",0.54,0.53,0.51,0.55,0.42,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"PTX4",0.91,14,"错义",12220,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",390667,"16p13.3","NM_001013658.1"]
["12307A(99)v652",37,19,0.51,"12307A","PWP2","chr21:45540919","c.1572A>G(E13)","p.524,T>T","rs2071143",0.58,0.74,0.7,0.78,0.71,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"PWP2",0.99,77,"同义",13203,"0.48=31/64","位于基因组单拷贝区域+DNA结构正常",5822,"21q22.3","NM_005049.2"]
["12307A(99)v9865",19,2,0.11,"12307A","PYROXD1","chr12:21623298","m.3240A>T(E12)","非编码区","rs577735412",0.049,0.091,0.1,0.078,null,0.13,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"PYROXD1",1,240,"非编码区",14100,"0.12=3/24","位于基因组多拷贝区域+DNA结构正常",79912,"12p12.1","NM_024854.3"]
["12307A(99)v20029",81,45,0.56,"12307A","QARS","chr3:49141116","c.399G>A(E4)","p.133,H>H","rs5030795",0.053,0.06,0.057,0.063,0.042,0.042,"杂合","无关","有rs号，MAF>=5%",null,"进行性小头畸形伴癫痫发作和大脑和小脑萎缩","AR",615760,5,3,1,1,"QARS",1,110,"同义",13203,"0.54=67/123","位于基因组单拷贝区域+DNA结构正常",5859,"3p21.31","NM_005051.1"]
["12307A(99)v30398",66,66,1,"12307A","R3HCC1","chr8:23148930","c.348A>G(E5)","p.116,T>T","rs2272762",0.56,0.82,0.8,0.84,0.82,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"R3HCC1",1,68,"同义",13203,"1.00=116/116","位于基因组单拷贝区域+DNA结构正常",203069,"8p21.3","NM_001136108.1"]
["12307A(99)v30348",86,27,0.31,"12307A","RAB40A","chrX:102755250","c.435G>A(E3)","p.145,A>A","rs79820963",{"$nulls":4},0.096,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RAB40A",1,150,"同义",13303,"0.34=43/128","位于基因组多拷贝区域+DNA结构正常",142684,"Xq22.1","NM_080879.2"]
["12307A(99)v12174",4,2,0.5,"12307A","RAC1","chr7:6442371","m.1114G>A(E6)","非编码区","rs9374",0.17,0.25,0.24,0.25,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RAC1",1,220,"非编码区",14200,"0.50=2/4","位于基因组多拷贝区域+DNA结构正常",5879,"7p22","NM_006908.4"]
["12307A(99)v12698",23,11,0.48,"12307A","RAD9A","chr11:67160961","c.1A>G(E1)","p.1,M>V","rs2066496",0.17,0.23,0.27,0.2,null,0.22,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,4,0,"RAD9A",1,36,"错义",18220,"0.41=16/39","位于基因组单拷贝区域+DNA结构正常",5883,"11q13.1-q13.2","NM_001243224.1"]
["12307A(99)v703",32,32,1,"12307A","RAG1","chr11:36597313","c.2459A>G(E2)","p.820,K>R","rs2227973",0.26,0.57,0.57,0.58,0.55,0.6,"纯合","无关","有rs号，MAF>=5%","16465622;16857995;18579371;18768505;18796628;23630330","严重巨细胞病毒感染伴自身免疫性贫血",null,609889,5,1,2,4,"RAG1",1,87,"错义",12220,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",5896,"11p13","NM_000448.2"]
["12307A(99)v4424",3,2,0.67,"12307A","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%",{"$nulls":4},5,null,4,0,"RAP1GAP2",1,94,"同义",13203,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",23108,"17p13.3","NM_001100398.1"]
["12307A(99)v3195",332,1,0,"12307A","RASA1","chr5:86658482-86658482","c.1447(E10):缺失A","缺失移码","rs34028699",{"$nulls":6},"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,"基底细胞癌（易感）1型",null,605462,1,2,1,3,"RASA1",1,280,"缺失移码",2130,"0.01=2/372","位于基因组单拷贝区域+简单重复结构",5921,"5q13.3","NM_002890.2"]
["12307A(99)v2084",145,145,1,"12307A","RB1CC1","chr8:53555069","c.4179A>G(E18)","p.1393,R>R","rs2305427",0.29,0.68,0.65,0.71,0.63,0.65,"纯合","无关","有rs号，MAF>=5%",null,"乳腺癌，浸润性导管","AD",114480,5,1,3,1,"RB1CC1",1,230,"同义",13203,"1.00=263/263","位于基因组单拷贝区域+DNA结构正常",9821,"8q11","NM_001083617.1"]
["12307A(99)v8139",1,1,1,"12307A","RBM15","chr1:110888926","IVS1-4C>A","剪切位点",{"$nulls":7},"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"RBM15",1,66,"剪切位点",16402,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",64783,"1p13","NM_001201545.1"]
["12307A(99)v20783",109,108,0.99,"12307A","RBMS2","chr12:56956213","c.79T>C(E2)","p.27,L>L","rs3759091",0.69,0.87,0.87,0.86,0.8,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RBMS2",1,200,"同义",13203,"0.99=183/184","位于基因组多拷贝区域+DNA结构正常",5939,"12q13.3","NM_002898.3"]
["12307A(99)v5553",46,19,0.41,"12307A","RCAN3","chr1:24861704","c.491G>A(E3)","p.164,R>Q","rs196432",0.51,0.71,0.73,0.69,0.66,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RCAN3",1,170,"错义",12220,"0.39=29/75","位于基因组单拷贝区域+DNA结构正常",11123,"1p35.3-p33","NM_001251982.1"]
["12307A(99)v27691",71,71,1,"12307A","RCBTB1","chr13:50126382","c.643G>A(E7)","p.215,L>L","rs2274278",0.86,0.89,0.9,0.89,0.84,0.89,"纯合","无关","有rs号，MAF>=5%",17702965,"酒精依赖症",null,103780,5,1,6,1,"RCBTB1",1,190,"同义",13203,"1.00=116/116","位于基因组单拷贝区域+DNA结构正常",55213,"13q14","NM_018191.3"]
["12307A(99)v25720",3,3,1,"12307A","RECQL5","chr17:73625430","c.2073G>A(E16)","p.691,H>H","rs4788902",0.53,0.81,0.78,0.83,0.65,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"RECQL5",0.99,67,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",9400,"17q25","NM_004259.6"]
["12307A(99)v20821",11,4,0.36,"12307A","RET","chr10:43622368","m.3575T>A(E19)","非编码区","rs2075913",0.66,0.41,0.42,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",null,"先天性中枢性肺换气不足综合征","AD",209880,5,1,9,7,"RET",0.95,67,"非编码区",14200,"0.40=6/15","位于基因组单拷贝区域+DNA结构正常",5979,"10q11.2","NM_020630.4"]
["12307A(99)v20826",33,12,0.36,"12307A","RET","chr10:43595968","c.135A>G(E2)","p.45,A>A","rs1800858",0.75,0.52,0.53,0.51,0.53,0.55,"杂合","无关","有疾病相关报道，MAF>=5%","15759212;17267408;18091754;19138047;20454948;20532249;21349203;24897126;10521317;10922382;","先天性巨结肠症1型（易感）","AD",142623,5,1,9,7,"RET",0.95,67,"同义",11200,"0.40=21/53","位于基因组单拷贝区域+DNA结构正常",5979,"10q11.2","NM_020630.4"]
["12307A(99)v20827",14,7,0.5,"12307A","RET","chr10:43610119","c.2071G>A(E11)","p.691,G>S","rs1799939",0.17,0.12,0.14,0.1,0.1,0.11,"杂合","无关","有rs号，MAF>=5%","16385451;18273880;18547414;19138047;19306327;20532249;24897126","多发性内分泌肿瘤2B型","AD",162300,5,1,9,7,"RET",0.95,67,"错义",12220,"0.48=11/23","位于基因组单拷贝区域+DNA结构正常",5979,"10q11.2","NM_020630.4"]
["12307A(99)v18252",49,29,0.59,"12307A","RFPL3","chr22:32753961","m.108C>A(E1)","非编码区","rs147764109",0.087,0.17,0.17,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"RFPL3",1,210,"非编码区",14200,"0.64=41/64","位于基因组多拷贝区域+DNA结构正常",10738,"22q12.3","NM_001098535.1"]
["12307A(99)v6100",132,65,0.49,"12307A","RFWD3","chr16:74664743","c.1690T>C(E10)","p.564,I>V","rs7193541",0.39,0.44,0.49,0.4,0.36,0.43,"杂合","无关","有rs号，MAF>=5%",19844255,{"$nulls":3},5,null,4,0,"RFWD3",1,160,"错义",12220,"0.47=101/216","位于基因组单拷贝区域+DNA结构正常",55159,"16q23.1","NM_018124.3"]
["12307A(99)v3409",4,4,1,"12307A","RGPD3","chr2:107084790","m.12C>T(E1)","非编码区","rs185187441",0.029,0.075,0.067,0.083,null,0.11,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"RGPD3",1,790,"非编码区",14100,"1.00=10/10","位于基因组多拷贝区域+DNA结构正常",653489,"2q13","NM_001144013.1"]
["12307A(99)v20292",14,8,0.57,"12307A","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%",{"$nulls":4},5,null,5,0,"RGS3",0.92,74,"同义",13203,"0.60=9/15","位于基因组单拷贝区域+DNA结构正常",5998,"9q32","NM_021106.3"]
["12307A(99)v26118",7,3,0.43,"12307A","RHOU","chr1:228786580","otherC>T","非编码区","rs4654723",0.19,0.21,0.2,0.21,null,null,"杂合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,3,0,"RHOU",0.97,120,"非编码区",17000,"0.36=4/11","位于基因组单拷贝区域+DNA结构正常",58480,"1q42.11-q42.3","NM_021205.5"]
["12307A(99)v9220",32,32,1,"12307A","RILPL1","chr12:124008073","c.429A>G(E2)","p.143,N>N","rs2292500",0.82,0.91,0.91,0.91,0.9,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RILPL1",0.9,35,"同义",13203,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",353116,"12q24.31","NM_178314.3"]
["12307A(99)v2305",38,16,0.42,"12307A","RIPK3","chr14:24809185","m.58T>C(E1)","非编码区","rs3212251",0.18,0.33,0.33,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RIPK3",1,82,"非编码区",14200,"0.40=19/47","位于基因组单拷贝区域+DNA结构正常",11035,"14q11.2","NM_006871.3"]
["12307A(99)v27384",29,29,1,"12307A","RNASE8","chr14:21526079","c.28C>T(E1)","p.10,P>S","rs12437266",0.55,0.61,0.6,0.61,0.61,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RNASE8",1,150,"错义",12210,"1.00=41/41","位于基因组多拷贝区域+DNA结构正常",122665,"14q11.2","NM_138331.1"]
["12307A(99)v20015",76,32,0.42,"12307A","RNF122","chr8:33416222","c.93C>T(E2)","p.31,Q>Q","rs3735951",0.61,0.54,0.54,0.53,0.51,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RNF122",1,140,"同义",13203,"0.44=58/133","位于基因组单拷贝区域+DNA结构正常",79845,"8p12","NM_024787.2"]
["12307A(99)v10402",88,88,1,"12307A","RNF216","chr7:5800769","m.191A>G(E2)","非编码区","rs3857756",0.96,0.97,0.97,0.97,0.96,null,"纯合","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",212840,5,1,1,1,"RNF216",1,140,"非编码区",14200,"1.00=128/128","位于基因组多拷贝区域+DNA结构正常",54476,"7p22.1","NM_207111.3"]
["12307A(99)v447",3,3,1,"12307A","ROR2","chr9:94495608","c.733T>C(E6)","p.245,T>A","rs10820900",0.64,0.5,0.49,0.51,0.41,0.48,"纯合","无关","有rs号，MAF>=5%",22178821,"短指症B1型","AD",113000,5,1,4,2,"ROR2",1,56,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",4920,"9q22","NM_004560.3"]
["12307A(99)v23343",14,5,0.36,"12307A","RP1L1","chr8:10469340","c.2268G>A(E4)","p.756,N>N","rs57819090",0.19,0.2,0.2,0.21,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",null,"隐匿性黄斑营养不良","AD",613587,5,1,19,1,"RP1L1",0.94,45,"同义",13203,"0.42=10/24","位于基因组单拷贝区域+DNA结构正常",94137,"8p23.1","NM_178857.5"]
["12307A(99)v786",98,98,1,"12307A","RP9","chr7:33136983","IVS3-9G>A","剪切位点","rs6462460",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性9型-AD","AD",180104,5,1,1,1,"RP9",0.77,190,"剪切位点",16202,"1.00=157/157","位于基因组单拷贝区域+DNA结构正常",6100,"7p14.3","NM_203288.1"]
["12307A(99)v28566",17,7,0.41,"12307A","RPL22L1","chr3:170584064","m.563A>C(E4)","非编码区","rs35192046",0.19,0.36,0.38,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RPL22L1",1,320,"非编码区",14200,"0.39=7/18","位于基因组多拷贝区域+DNA结构正常",200916,"3q26.2","NM_001099645.1"]
["12307A(99)v3469",63,36,0.57,"12307A","RPN2","chr20:35865054","c.1729C>T(E15)","p.577,L>L","rs4608",0.69,0.43,0.45,0.41,0.44,0.47,"杂合","无关","有rs号，MAF>=5%",23644918,{"$nulls":3},5,null,1,0,"RPN2",0.99,160,"同义",13203,"0.56=63/112","位于基因组单拷贝区域+DNA结构正常",6185,"20q12-q13.1","NM_001135771.1"]
["12307A(99)v29479",34,11,0.32,"12307A","RPS6KB2","chr11:67200819","c.807C>T(E10)","p.269,F>F","rs4930427",0.36,0.32,0.34,0.31,0.3,0.29,"杂合","无关","有rs号，MAF>=5%",20019842,{"$nulls":3},5,null,5,0,"RPS6KB2",1,44,"同义",13203,"0.33=17/52","位于基因组单拷贝区域+DNA结构正常",6199,"11q13.2","NM_003952.2"]
["12307A(99)v23337",1,1,1,"12307A","RRM2B","chr8:103251255","m.92C>A(E1)","非编码区","rs2290707",0.12,0.4,0.42,0.38,0.32,null,"纯合","无关","有rs号，MAF>=5%",null,"进行性眼外肌麻痹合并线粒体核酸缺失5型","AD",613077,5,1,2,2,"RRM2B",1,220,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",50484,"8q23.1","NM_001172478.1"]
["12307A(99)v923",55,26,0.47,"12307A","RSU1","chr10:16858993","c.88T>C(E2)","p.30,M>V","rs11539866",0.037,0.15,0.12,0.18,0.15,0.13,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"RSU1",1,180,"错义",12120,"0.44=41/94","位于基因组单拷贝区域+DNA结构正常",6251,"10p13","NM_012425.3"]
["12307A(99)v22860",110,109,0.99,"12307A","RTP4","chr3:187089031","c.611C>A(E2)","p.204,A>D","rs1003995",0.29,0.46,0.49,0.44,0.43,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RTP4",1,160,"错义",12220,"0.99=197/199","位于基因组单拷贝区域+DNA结构正常",64108,"3q27.3","NM_022147.2"]
["12307A(99)v8054",1,1,1,"12307A","RXRB","chr6:33162215","m.2078A>C(E10)","非编码区","rs2744537",0.87,0.95,0.98,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RXRB",0.58,2.8,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",6257,"6p21.3","NM_001270401.1"]
["12307A(99)v24543",18,6,0.33,"12307A","RYR1","chr19:38991543","c.7527G>A(E47)","p.2509,V>V","rs2071088",0.14,0.17,0.2,0.14,0.14,0.16,"杂合","无关","有rs号，MAF>=5%","16917943;19513315","恶性高热易感1","AD",145600,5,1,27,3,"RYR1",0.96,61,"同义",13203,"0.23=7/30","位于基因组单拷贝区域+DNA结构正常",6261,"19q13.1","NM_000540.2"]
["12307A(99)v24552",28,13,0.46,"12307A","RYR1","chr19:38993547","c.7863C>T(E49)","p.2621,H>H","rs2229142",0.24,0.31,0.35,0.27,0.25,0.29,"杂合","无关","有rs号，MAF>=5%",16917943,"中央轴空病","AD,AR",117000,5,1,27,3,"RYR1",0.96,61,"同义",13203,"0.41=17/41","位于基因组单拷贝区域+DNA结构正常",6261,"19q13.1","NM_000540.2"]
["12307A(99)v27651",60,26,0.43,"12307A","RYR3","chr15:34032131","c.7755G>A(E51)","p.2585,T>T","rs41279212",0.23,0.15,0.15,0.15,0.18,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"RYR3",1,180,"同义",13203,"0.42=41/97","位于基因组单拷贝区域+DNA结构正常",6263,"15q14-q15","NM_001036.3"]
["12307A(99)v6805",113,50,0.44,"12307A","S100A7L2","chr1:153410822","c.17C>A(E2)","p.6,G>V","rs10888561",0.61,0.55,0.55,0.55,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"S100A7L2",1,280,"错义",12220,"0.42=83/199","位于基因组多拷贝区域+DNA结构正常",645922,"1q21.3","NM_001045479.1"]
["12307A(99)v25661",3,3,1,"12307A","SAMD5","chr6:147885803","m.970C>T(E2)","非编码区","rs702341",0.25,0.32,0.34,0.31,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SAMD5",0.94,46,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",389432,"6q24.3","NM_001030060.2"]
["12307A(99)v8786",8,1,0.12,"12307A","SAPCD2","chr9:139960098","c.707T>C(E3)","p.236,E>G",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"SAPCD2",0.49,5.5,"错义",12410,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",89958,"9q34.3","NM_178448.3"]
["12307A(99)v15170",95,44,0.46,"12307A","SART3","chr12:108941679","c.528G>A(E3)","p.176,A>A","rs12579216",0.1,0.15,0.14,0.16,0.093,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SART3",1,160,"同义",13203,"0.47=84/178","位于基因组单拷贝区域+DNA结构正常",9733,"12q24.1","NM_014706.3"]
["12307A(99)v14012",165,71,0.43,"12307A","SCAPER","chr15:76726465","c.2527G>T(E26)","p.843,P>T","rs1607017",0.36,0.57,0.54,0.59,0.55,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SCAPER",1,250,"错义",12220,"0.45=130/287","位于基因组单拷贝区域+DNA结构正常",49855,"15q24","NM_001145923.1"]
["12307A(99)v3576",27,27,1,"12307A","SCN10A","chr3:38768334","c.2850T>C(E16)","p.950,K>K","rs7374804",0.14,0.25,0.23,0.28,0.23,0.27,"纯合","无关","有rs号，MAF>=5%",null,"家族性阵发性疼痛综合征","AD",615551,5,1,9,1,"SCN10A",1,130,"同义",13203,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",6336,"3p22.2","NM_006514.2"]
["12307A(99)v30347",135,134,0.99,"12307A","SCN2A","chr2:166170127","IVS8-3T>C","剪切位点","rs2121371",0.77,0.82,0.84,0.8,0.84,0.77,"纯合","无关","有rs号，MAF>=5%",null,"良性家族性婴儿癫痫/惊厥3型","AD",607745,5,1,2,2,"SCN2A",1,280,"剪切位点",16202,"0.99=237/239","位于基因组单拷贝区域+DNA结构正常",6326,"2q24.3","NM_001040142.1"]
["12307A(99)v4676",44,23,0.52,"12307A","SCN4A","chr17:62018773","c.4869T>C(E24)","p.1623,T>T","rs2070720",0.42,0.39,0.41,0.36,0.35,0.42,"杂合","无关","有rs号，MAF>=5%",null,"低血钾性周期性麻痹2型","AD",613345,5,1,3,5,"SCN4A",0.99,63,"同义",13203,"0.47=37/78","位于基因组多拷贝区域+DNA结构正常",6329,"17q23.3","NM_000334.4"]
["12307A(99)v15112",4,4,1,"12307A","SCNN1A","chr12:6457062","c.1987T>C(E13)","p.663,T>A","rs2228576",0.74,0.51,0.48,0.54,0.46,0.54,"纯合","无关","有rs号，MAF>=5%","18513389;19131662;19263529;19330901;19559392;20577119;24493373","假性醛固酮减少症1B型","AR",264350,5,1,2,2,"SCNN1A",1,61,"错义",12220,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",6337,"12p13","NM_001038.5"]
["12307A(99)v11607",53,34,0.64,"12307A","SCNN1G","chr16:23200761","c.387T>C(E3)","p.129,Y>Y","rs5734",0.24,0.18,0.2,0.16,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",null,"假性醛固酮减少症1B型","AR",264350,5,3,5,3,"SCNN1G",1,110,"同义",13203,"0.61=48/79","位于基因组单拷贝区域+DNA结构正常",6340,"16p12","NM_001039.3"]
["12307A(99)v15698",4,2,0.5,"12307A","SDCCAG3","chr9:139298653","IVS8-7G>A","剪切位点","rs12235378",0.065,0.11,0.12,0.092,null,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SDCCAG3",1,100,"剪切位点",16202,"0.67=4/6","位于基因组单拷贝区域+DNA结构正常",10807,"9q34.3","NM_001039707.1"]
["12307A(99)v1508",38,22,0.58,"12307A","SDK2","chr17:71410891","c.2376C>T(E18)","p.792,T>T","rs12386051",0.25,0.48,0.49,0.46,0.43,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SDK2",0.99,51,"同义",13203,"0.57=31/54","位于基因组单拷贝区域+DNA结构正常",54549,"17q25.1","NM_001144952.1"]
["12307A(99)v29828",224,102,0.46,"12307A","SEC23A","chr14:39556185","c.631G>C(E6)","p.211,L>V","rs8018720",0.78,0.63,0.63,0.63,0.59,0.65,"杂合","无关","有rs号，MAF>=5%",null,"颅额鼻发育不良","AR",607812,5,3,3,1,"SEC23A",1,300,"错义",12220,"0.45=192/427","位于基因组单拷贝区域+DNA结构正常",10484,"14q21.1","NM_006364.2"]
["12307A(99)v28281",103,47,0.46,"12307A","SEC31B","chr10:102265815","c.1026A>G(E9)","p.342,H>H","rs2295773",0.19,0.14,0.16,0.13,0.14,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SEC31B",1,120,"同义",13203,"0.47=85/181","位于基因组单拷贝区域+DNA结构正常",25956,"10q24.31","NM_015490.3"]
["12307A(99)v12573",96,51,0.53,"12307A","SEMA3E","chr7:83037731","c.443C>G(E6)","p.148,R>P","rs61729612",0.098,0.14,0.1,0.17,0.1,0.12,"杂合","无关","有rs号，MAF>=5%",null,"霍尔希特纳综合征","AD",214800,5,1,4,1,"SEMA3E",1,270,"错义",12220,"0.50=89/178","位于基因组单拷贝区域+DNA结构正常",9723,"7q21.11","NM_001178129.1"]
["12307A(99)v22356",139,75,0.54,"12307A","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",1,300,"错义",12220,"0.54=149/275","位于基因组单拷贝区域+DNA结构正常",51091,"4p15.2","NM_016955.3"]
["12307A(99)v6488",24,24,1,"12307A","SERPINB1","chr6:2833739","m.1489A>G(E7)","非编码区","rs15286",0.75,0.78,0.8,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SERPINB1",1,170,"非编码区",14200,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",1992,"6p25","NM_030666.3"]
["12307A(99)v27786",204,89,0.44,"12307A","SERPINB5","chr18:61156606","c.333G>C(E4)","p.111,P>P","rs12454742",0.71,0.58,0.63,0.53,0.52,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SERPINB5",1,230,"同义",13203,"0.44=154/352","位于基因组单拷贝区域+DNA结构正常",5268,"18q21.3","NM_002639.4"]
["12307A(99)v13632",14,6,0.43,"12307A","SERPINF2","chr17:1648294","c.5C>T(E2)","p.2,A>V","rs2070862",0.2,0.19,0.18,0.2,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",null,"α-2-纤溶酶抑制剂缺失症","AR",262850,5,3,2,1,"SERPINF2",1,60,"错义",12220,"0.42=8/19","位于基因组单拷贝区域+DNA结构正常",5345,"17p13","NM_000934.3"]
["12307A(99)v7459",27,10,0.37,"12307A","SETX","chr9:135139826","c.7834T>C(E26)","p.2612,S>G","rs3739927",0.16,0.33,0.35,0.31,0.33,0.39,"杂合","无关","有rs号，MAF>=5%",null,"肌萎缩性侧索硬化,幼年4型","AD",602433,5,1,9,2,"SETX",1,200,"错义",12220,"0.36=15/42","位于基因组单拷贝区域+DNA结构正常",23064,"9q34.13","NM_015046.5"]
["12307A(99)v22660",134,133,0.99,"12307A","SF3B1","chr2:198283305","c.423T>C(E5)","p.141,K>K","rs788023",0.72,0.51,0.46,0.57,0.54,0.54,"纯合","无关","有rs号，MAF>=5%",null,"骨髓增生异常综合征",null,614286,5,1,3,1,"SF3B1",1,260,"同义",13203,"0.99=230/232","位于基因组单拷贝区域+DNA结构正常",23451,"2q33.1","NM_012433.2"]
["12307A(99)v27925",4,4,1,"12307A","SFXN2","chr10:104497764-104497765","m.1380(E12)至m.1381(E12):插入A","非编码区","rs59640190",0.13,0.094,0.086,0.1,null,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"SFXN2",1,120,"非编码区",2420,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",118980,"10q24.32","NM_178858.4"]
["12307A(99)v30063",12,1,0.08,"12307A","SGK223","chr8:8175822","c.4063G>T(E5)","p.1355,R>R",{"$nulls":5},0.0035,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"SGK223",0.89,28,"同义",13403,"0.12=2/17","位于基因组单拷贝区域+DNA结构正常",157285,"8p23.1","NM_001080826.1"]
["12307A(99)v9047",170,78,0.46,"12307A","SH3D19","chr4:152065197","c.1317C>T(E13)","p.439,G>G","rs3736502",0.097,0.19,0.16,0.21,0.18,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SH3D19",1,280,"同义",13203,"0.48=133/277","位于基因组单拷贝区域+DNA结构正常",152503,"4q31.3","NM_001009555.3"]
["12307A(99)v22100",66,66,1,"12307A","SH3RF2","chr5:145439647","c.1774T>C(E9)","p.592,W>R","rs2962525",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SH3RF2",1,94,"错义",12230,"1.00=116/116","位于基因组单拷贝区域+DNA结构正常",153769,"5q32","NM_152550.3"]
["12307A(99)v1627",2,1,0.5,"12307A","SHANK3","chr22:51133482","IVS10+8A>G","非编码区",{"$nulls":7},"杂合","未知","内含子突变可能影响调控",null,"Phelan-McDermid综合征/染色体22q13.3缺失综合征",null,606232,4,2,2,2,"SHANK3",0.71,18,"非编码区",16403,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",85358,"22q13.3","NM_033517.1"]
["12307A(99)v20312",12,12,1,"12307A","SHISA3","chr4:42403561","m.1028T>C(E2)","非编码区","rs55934419",0.33,0.6,0.52,0.67,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SHISA3",0.79,31,"非编码区",14200,"1.00=20/20","位于基因组多拷贝区域+DNA结构正常",152573,"4p13","NM_001080505.1"]
["12307A(99)v6704",83,41,0.49,"12307A","SHROOM3","chr4:77631425","c.440T>A(E3)","p.147,L>H","rs3821979",0.22,0.32,0.3,0.33,0.4,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SHROOM3",0.94,72,"错义",12210,"0.53=77/145","位于基因组单拷贝区域+DNA结构正常",57619,"4q21.1","NM_020859.3"]
["12307A(99)v3152",120,50,0.42,"12307A","SIGLEC5","chr19:52132325","c.705A>T(E4)","p.235,A>A","rs2305372",0.14,0.48,0.49,0.48,0.54,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SIGLEC5",1,92,"同义",13203,"0.39=76/194","位于基因组单拷贝区域+DNA结构正常",8778,"19q13.3","NM_003830.3"]
["12307A(99)v12830",82,47,0.57,"12307A","SIPA1L2","chr1:232568041","c.4208G>A(E14)","p.1403,S>L","rs1547742",0.062,0.038,0.038,0.039,0.042,0.037,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SIPA1L2",1,140,"错义",12210,"0.59=75/127","位于基因组单拷贝区域+DNA结构正常",57568,"1q42.2","NM_020808.3"]
["12307A(99)v6009",294,97,0.33,"12307A","SKA3","chr13:21742311","c.559C>T(E4)","p.187,V>I","rs61950353",{"$nulls":4},0.22,0.23,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"SKA3",1,390,"错义",12320,"0.33=190/568","位于基因组单拷贝区域+DNA结构正常",221150,"13q12.11","NM_001166017.1"]
["12307A(99)v13644",187,187,1,"12307A","SLC10A2","chr13:103705044","c.511A>C(E3)","p.171,S>A","rs188096",0.84,0.73,0.77,0.68,0.69,0.73,"纯合","无关","有rs号，MAF>=5%","18644122;19823678","原发性胆汁酸吸收不良","AR",613291,5,1,2,1,"SLC10A2",1,200,"错义",12230,"1.00=364/365","位于基因组单拷贝区域+DNA结构正常",6555,"13q33","NM_000452.2"]
["12307A(99)v1720",53,53,1,"12307A","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%",{"$nulls":4},5,null,7,0,"SLC14A2",1,180,"错义",12220,"1.00=93/93","位于基因组单拷贝区域+DNA结构正常",8170,"18q12.1-q21.1","NM_001242692.1"]
["12307A(99)v11939",146,69,0.47,"12307A","SLC16A1","chr1:113456546","c.1470A>T(E5)","p.490,D>E","rs1049434",0.68,0.66,0.68,0.64,0.64,0.66,"杂合","无关","有rs号，MAF>=5%","19850519;22516692;24708341","红细胞乳酸盐转运缺陷","AD",245340,5,1,1,3,"SLC16A1",1,160,"错义",12220,"0.48=119/249","位于基因组单拷贝区域+DNA结构正常",6566,"1p12","NM_001166496.1"]
["12307A(99)v21057",75,74,0.99,"12307A","SLC22A1","chr6:160551204","c.480G>C(E2)","p.160,L>F","rs683369",0.88,0.86,0.84,0.88,0.86,0.86,"纯合","无关","有rs号，MAF>=5%","19584153;23612856;24215657",{"$nulls":3},5,null,5,0,"SLC22A1",1,120,"错义",12220,"0.99=125/126","位于基因组单拷贝区域+DNA结构正常",6580,"6q25.3","NM_003057.2"]
["12307A(99)v12405",8,8,1,"12307A","SLC22A18","chr11:2943671","c.972G>C(E10)","p.324,W>C","rs1129782",0.13,0.12,0.12,0.13,0.14,0.16,"纯合","无关","有rs号，MAF>=5%",null,"横纹肌肉瘤1型","AR",268210,5,1,3,3,"SLC22A18",0.77,23,"错义",12220,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",5002,"11p15.5","NM_002555.5"]
["12307A(99)v2708",15,15,1,"12307A","SLC24A4","chr14:92960025","m.1945T>C(E17)","非编码区","rs4904942",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%",null,"皮肤/头发/眼睛色素沉着6型","AR",210750,5,1,5,2,"SLC24A4",0.97,110,"非编码区",14200,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",123041,"14q32.12","NM_153646.3"]
["12307A(99)v5074",131,131,1,"12307A","SLC25A13","chr7:95864108","IVS4+6T>C","剪切位点","rs6957975",0.61,0.47,0.43,0.5,0.39,0.46,"纯合","无关","有rs号，MAF>=5%",null,"瓜氨酸血症II型（新生儿型）/希特林蛋白缺乏症","AR",605814,5,1,2,2,"SLC25A13",0.99,330,"剪切位点",16202,"1.00=217/218","位于基因组单拷贝区域+DNA结构正常",10165,"7q21.3","NM_001160210.1"]
["12307A(99)v13902",6,6,1,"12307A","SLC25A25","chr9:130854083","m.341G>C(E1)","非编码区","rs10739711",0.92,0.98,0.98,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SLC25A25",0.92,56,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",114789,"9q34.11","NM_001006642.3"]
["12307A(99)v25921",25,14,0.56,"12307A","SLC27A6","chr5:128301824","m.612T>A(E1)","非编码区","rs2526246",0.19,0.06,0.057,0.063,null,0.066,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLC27A6",1,220,"非编码区",14200,"0.56=24/43","位于基因组单拷贝区域+DNA结构正常",28965,"5q23.3","NM_001017372.1"]
["12307A(99)v25699",58,26,0.45,"12307A","SLC2A1","chr1:43408966","c.45G>A(E2)","p.15,A>A","rs1385129",0.24,0.3,0.3,0.31,0.23,0.29,"杂合","无关","有rs号，MAF>=5%","18212354;22707195","GLUT1缺乏综合征1/葡萄糖转运载体缺陷，血脑屏障","AD,AR",606777,5,1,1,4,"SLC2A1",0.99,67,"同义",13203,"0.46=48/104","位于基因组单拷贝区域+DNA结构正常",6513,"1p34.2","NM_006516.2"]
["12307A(99)v15464",131,130,0.99,"12307A","SLC2A9","chr4:9998493","c.235A>G(E4)","p.79,L>L","rs13113918",0.82,0.98,0.98,0.99,0.97,0.98,"纯合","无关","有rs号，MAF>=5%",21186168,"肾性低尿酸血症2型",null,612076,5,1,7,1,"SLC2A9",1,120,"同义",13203,"0.99=220/222","位于基因组单拷贝区域+DNA结构正常",56606,"4p16.1","NM_001001290.1"]
["12307A(99)v11341",2,2,1,"12307A","SLC35F2","chr11:107663103","m.1784C>G(E8)","非编码区","rs516091",0.35,0.096,0.095,0.097,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLC35F2",1,210,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54733,"11q22.3","NM_017515.4"]
["12307A(99)v28962",15,7,0.47,"12307A","SLC38A8","chr16:84070514","IVS1-9A>C","剪切位点","rs1876960",0.44,0.62,0.63,0.6,null,0.58,"杂合","无关","有rs号，MAF>=5%",null,"中央凹发育不良2型","AR",609218,5,3,4,1,"SLC38A8",1,70,"剪切位点",16202,"0.48=10/21","位于基因组单拷贝区域+DNA结构正常",146167,"16q23.3","NM_001080442.1"]
["12307A(99)v842",8,1,0.12,"12307A","SLC39A5","chr12:56628666","c.530C>A(E4)","p.177,T>N",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"常染色体显性遗传性近视24型","AD",615946,2,1,1,1,"SLC39A5",1,48,"错义",12410,"0.24=4/17","位于基因组单拷贝区域+DNA结构正常",283375,"12q13.3","NM_001135195.1"]
["12307A(99)v3969",52,25,0.48,"12307A","SLC44A4","chr6:31842598","c.140T>A(E6)","p.47,D>V","rs12661281",0.094,0.12,0.14,0.11,0.11,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SLC44A4",0.74,36,"错义",12220,"0.46=46/101","位于基因组单拷贝区域+DNA结构正常",80736,"6p21.3","NM_001178045.1"]
["12307A(99)v6622",35,22,0.63,"12307A","SLC4A1AP","chr2:27887034","c.415C>A(E1)","p.139,P>T","rs9678851",0.34,0.079,0.095,0.063,0.091,0.087,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLC4A1AP",1,210,"错义",12220,"0.62=29/47","位于基因组单拷贝区域+DNA结构正常",22950,"2p23.3","NM_018158.2"]
["12307A(99)v14151",186,88,0.47,"12307A","SLC5A12","chr11:26705310","c.1302A>G(E11)","p.434,N>N","rs3924551",0.44,0.34,0.3,0.37,0.34,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"SLC5A12",1,240,"同义",13203,"0.47=146/313","位于基因组单拷贝区域+DNA结构正常",159963,"11p14.2","NM_178498.3"]
["12307A(99)v3187",54,25,0.46,"12307A","SLC6A12","chr12:311898","IVS5+8A>G","非编码区","rs74057611",0.051,0.0072,0.0048,0.0097,null,0.012,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC6A12",1,120,"非编码区",16203,"0.48=47/97","位于基因组单拷贝区域+DNA结构正常",6539,"12p13","NM_001122847.2"]
["12307A(99)v5584",34,34,1,"12307A","SLC6A20","chr3:45817418","c.417A>G(E4)","p.139,C>C","rs758386",0.95,0.91,0.91,0.92,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",22610502,"高甘氨酸尿/高甘氨酸尿伴或不伴有草酸盐肾病","AD",138500,5,1,1,2,"SLC6A20",0.98,65,"同义",13203,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",54716,"3p21.3","NM_020208.3"]
["12307A(99)v18891",13,7,0.54,"12307A","SLC9A4","chr2:103149210","m.2917G>A(E12)","非编码区","rs74560841",0.067,0.019,0.029,0.0097,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLC9A4",1,160,"非编码区",14200,"0.47=8/17","位于基因组单拷贝区域+DNA结构正常",389015,"2q12.1","NM_001011552.3"]
["12307A(99)v4579",90,89,0.99,"12307A","SLC9C1","chr3:111921225","c.2194G>T(E18)","p.732,Q>K","rs6781844",0.83,0.99,0.99,0.99,0.97,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"SLC9C1",1,330,"错义",12220,"0.99=163/165","位于基因组单拷贝区域+DNA结构正常",285335,"3q13.2","NM_183061.1"]
["12307A(99)v3050",53,25,0.47,"12307A","SLFN11","chr17:33680811","c.1466C>A(E6)","p.489,R>L","rs9898983",0.34,0.45,0.45,0.45,0.36,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SLFN11",1,190,"错义",12210,"0.46=33/71","位于基因组多拷贝区域+DNA结构正常",91607,"17q12","NM_001104587.1"]
["12307A(99)v22869",23,11,0.48,"12307A","SLFNL1","chr1:41485902","c.431C>G(E3)","p.144,R>T","rs3738368",0.18,0.16,0.16,0.17,0.11,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLFNL1",0.97,14,"错义",12210,"0.49=17/35","位于基因组单拷贝区域+DNA结构正常",200172,"1p34.2","NM_001168247.1"]
["12307A(99)v13146",25,1,0.04,"12307A","SMAD7","chr18:46447776","c.1244G>T(E4)","p.415,P>Q",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"结肠癌,易感3型",null,612229,2,2,1,1,"SMAD7",0.75,57,"错义",12410,"0.11=4/37","位于基因组单拷贝区域+DNA结构正常",4092,"18q21.1","NM_001190821.1"]
["12307A(99)v22590",126,56,0.44,"12307A","SMC1B","chr22:45767455","c.2209A>G(E14)","p.737,L>L","rs136569",0.71,0.72,0.69,0.74,0.68,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SMC1B",1,270,"同义",13203,"0.45=99/222","位于基因组单拷贝区域+DNA结构正常",27127,"22q13.31","NM_148674.3"]
["12307A(99)v11217",133,131,0.98,"12307A","SMG7","chr1:183486859","c.90G>A(E3)","p.30,L>L","rs789169",0.94,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SMG7",0.9,250,"同义",13203,"0.99=237/240","位于基因组单拷贝区域+DNA结构正常",9887,"1q25","NM_001174061.1"]
["12307A(99)v25797",10,4,0.4,"12307A","SNAP29","chr22:21213416","c.18A>G(E1)","p.6,K>K","rs1061064",0.4,0.33,0.32,0.34,0.31,0.42,"杂合","无关","有rs号，MAF>=5%",null,"CEDNIK综合征/大脑发育不良-神经疾病-鱼鳞病和掌跖角皮病综合征","AR",609528,5,3,2,1,"SNAP29",1,140,"同义",13203,"0.42=8/19","位于基因组单拷贝区域+DNA结构正常",9342,"22q11.21","NM_004782.3"]
["12307A(99)v31437",13,4,0.31,"12307A","SNRNP27","chr2:70131664-70131670","m.734(E6)至m.740(E6):缺失CGTCAAC","非编码区","rs71397377",0.26,0.34,0.36,0.33,0,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"SNRNP27",1,260,"非编码区",2420,"0.25=4/16","位于基因组多拷贝区域+DNA结构正常",11017,"2p13.3","NM_006857.2"]
["12307A(99)v16500",110,32,0.29,"12307A","SNX19","chr11:130780269-130780269","IVS2-4:缺失C","非编码区","rs372369099",0.14,0.14,0.1,0.17,0.028,null,"杂合","无关","内含子突变",{"$nulls":4},5,null,11,0,"SNX19",1,110,"非编码区",2500,"0.28=35/123","位于基因组单拷贝区域+DNA结构正常",399979,"11q25","NM_014758.2"]
["12307A(99)v21901",1,1,1,"12307A","SNX7","chr1:99127392","c.105T>C(E1)","p.35,S>S","rs9728148",1,1,1,1,0.85,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SNX7",0.94,270,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",51375,"1p21.3","NM_015976.4"]
["12307A(99)v213",45,20,0.44,"12307A","SORL1","chr11:121456962","c.3738C>T(E27)","p.1246,N>N","rs1699102",0.41,0.1,0.1,0.11,0.093,0.11,"杂合","无关","有rs号，MAF>=5%","17826910;18063222;18938222;19064752;19584446;20667857","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,1,"SORL1",0.97,150,"同义",13203,"0.47=36/76","位于基因组单拷贝区域+DNA结构正常",6653,"11q23.2-q24.2","NM_003105.5"]
["12307A(99)v18269",22,22,1,"12307A","SP110","chr2:231077725","c.352A>G(E5)","p.118,W>R","rs1129411",0.95,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",16803959,"肝静脉闭塞病伴免疫缺陷","AR",235550,5,1,4,2,"SP110",0.99,210,"错义",12220,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",3431,"2q37.1","NM_001185015.1"]
["12307A(99)v31415",42,42,1,"12307A","SPAG7","chr17:4863410","IVS4-4A>G","剪切位点","rs238224",0.7,0.46,0.47,0.45,0.4,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SPAG7",1,59,"剪切位点",16202,"1.00=73/73","位于基因组单拷贝区域+DNA结构正常",9552,"17p13.2","NM_004890.2"]
["12307A(99)v18727",52,52,1,"12307A","SPATA18","chr4:52938243","c.679T>C(E6)","p.227,S>P","rs3860707",0.38,0.41,0.44,0.38,0.39,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SPATA18",1,150,"错义",12210,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",132671,"4q12","NM_145263.2"]
["12307A(99)v27445",36,16,0.44,"12307A","SPATA8","chr15:97327393","c.100C>T(E2)","p.34,R>X","rs3812907",0.12,0.12,0.095,0.14,0.15,0.14,"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%",{"$nulls":4},5,null,2,0,"SPATA8",1,160,"截断",15200,"0.48=29/60","位于基因组单拷贝区域+DNA结构正常",145946,"15q26.2","NM_173499.3"]
["12307A(99)v18033",11,1,0.09,"12307A","SPEG","chr2:220355655","c.9362G>A(E38)","p.3121,R>H",{"$nulls":6},0.00013,"杂合","可能相关","蛋白结构预测结果为有害",null,"中央核肌病5型","AR",615959,2,3,9,1,"SPEG",0.77,25,"错义",12410,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",10290,"2q35","NM_005876.4"]
["12307A(99)v18038",25,25,1,"12307A","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",615959,5,1,9,1,"SPEG",0.77,25,"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"]
["12307A(99)v16927",139,56,0.4,"12307A","SPINK5","chr5:147480027","c.1103G>A(E13)","p.368,S>N","rs2303063",0.43,0.44,0.42,0.47,0.43,0.48,"杂合","无关","有rs号，MAF>=5%",16519819,"内瑟顿综合征/Netherton综合征 ","AR",256500,5,3,16,2,"SPINK5",1,290,"错义",12220,"0.45=107/238","位于基因组单拷贝区域+DNA结构正常",11005,"5q32","NM_001127698.1"]
["12307A(99)v5126",160,153,0.96,"12307A","SPON1","chr11:14101493-14101494","c.601(E5)至c.602(E5):插入C","插入移码","rs5789820",1,1,1,1,0.21,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,1,0,"SPON1",1,120,"插入移码",2120,"0.96=171/179","位于基因组单拷贝区域+DNA结构正常",10418,"11p15.2","NM_006108.3"]
["12307A(99)v31135",81,29,0.36,"12307A","SPRR3","chr1:152975739","c.243T>A(E2)","p.81,G>G","rs17851565",{"$nulls":4},0.28,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"SPRR3",1,180,"同义",13303,"0.38=60/158","位于基因组单拷贝区域+DNA结构正常",6707,"1q21-q22","NM_001097589.1"]
["12307A(99)v10858",39,38,0.97,"12307A","SPTA1","chr1:158647631","IVS6-7T>A","剪切位点","rs325995",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null,"球形细胞增多症3型","AR",270970,5,1,15,3,"SPTA1",1,180,"剪切位点",16202,"0.99=68/69","位于基因组单拷贝区域+DNA结构正常",6708,"1q21","NM_003126.2"]
["12307A(99)v29186",6,3,0.5,"12307A","SPTBN5","chr15:42149506","c.8446G>C(E51)","p.2816,Q>E","rs12442525",0.47,0.97,0.98,0.96,0.84,0.96,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"SPTBN5",0.92,22,"错义",12220,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",51332,"15q21","NM_016642.2"]
["12307A(99)v16472",106,106,1,"12307A","SPZ1","chr5:79616083","c.49G>C(E1)","p.17,V>L","rs1862136",0.79,0.94,0.95,0.94,0.95,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SPZ1",1,180,"错义",12220,"1.00=179/179","位于基因组单拷贝区域+DNA结构正常",84654,"5q14.1","NM_032567.3"]
["12307A(99)v16596",30,18,0.6,"12307A","SRP72","chr4:57333822","c.21G>T(E1)","p.7,G>G","rs12513091",0.23,0.2,0.18,0.22,0.15,0.21,"杂合","无关","有rs号，MAF>=5%",null,"家族性骨髓衰竭综合征","AD",614675,5,1,3,1,"SRP72",1,290,"同义",13203,"0.55=27/49","位于基因组单拷贝区域+DNA结构正常",6731,"4q11","NM_001267722.1"]
["12307A(99)v9939",280,280,1,"12307A","SSBP2","chr5:80736444","c.885A>G(E14)","p.295,G>G","rs9596",0.45,0.18,0.18,0.17,0.23,0.17,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SSBP2",1,380,"同义",13203,"1.00=549/549","位于基因组单拷贝区域+DNA结构正常",23635,"5q14.1","NM_001256732.1"]
["12307A(99)v13863",2,2,1,"12307A","SSPO","chr7:149474393","c.437A>G(E4)","p.146,Q>R","rs709061",0.29,0.1,0.095,0.11,0.094,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,32,0,"SSPO",0.97,17,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",23145,"7q36.1","NM_198455.2"]
["12307A(99)v23773",9,1,0.11,"12307A","SSTR4","chr20:23016430","c.310G>A(E1)","p.104,A>T",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"SSTR4",0.91,15,"错义",12410,"0.38=6/16","位于基因组多拷贝区域+DNA结构正常",6754,"20p11.2","NM_001052.2"]
["12307A(99)v23737",176,175,0.99,"12307A","SSX5","chrX:48049666","c.492C>T(E7)","p.164,S>S","rs5906557",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"SSX5",1,630,"同义",13303,"1.00=358/359","位于基因组多拷贝区域+DNA结构正常",6758,"Xp11.23","NM_021015.3"]
["12307A(99)v3694",156,77,0.49,"12307A","STAB2","chr12:104086631","c.3339C>T(E31)","p.1113,N>N","rs703651",0.47,0.5,0.51,0.48,0.48,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"STAB2",1,190,"同义",13203,"0.49=137/277","位于基因组单拷贝区域+DNA结构正常",55576,"12q23.3","NM_017564.9"]
["12307A(99)v16792",56,30,0.54,"12307A","STAT5A","chr17:40459737","c.1902C>T(E16)","p.634,D>D","rs1135669",0.24,0.31,0.36,0.27,0.3,0.33,"杂合","无关","有rs号，MAF>=5%",18520591,{"$nulls":3},5,null,1,0,"STAT5A",1,94,"同义",13203,"0.54=53/98","位于基因组单拷贝区域+DNA结构正常",6776,"17q11.2","NM_003152.3"]
["12307A(99)v8174",18,18,1,"12307A","STK32C","chr10:134036193","c.1203A>G(E10)","p.401,R>R","rs2818401",0.77,0.86,0.82,0.9,0.83,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"STK32C",0.92,34,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",282974,"10q26.3","NM_173575.2"]
["12307A(99)v8923",77,77,1,"12307A","STON1","chr2:48809593","c.1821G>T(E3)","p.607,Q>H","rs3792234",0.4,0.37,0.36,0.38,0.4,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"STON1",1,170,"错义",12220,"0.99=139/140","位于基因组单拷贝区域+DNA结构正常",11037,"2p16.3","NM_001198595.1"]
["12307A(99)v17626",63,33,0.52,"12307A","STX5","chr11:62592961","c.474T>C(E6)","p.158,R>R","rs2228627",0.11,0.14,0.17,0.12,0.12,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"STX5",1,110,"同义",13203,"0.53=54/102","位于基因组单拷贝区域+DNA结构正常",6811,"11q12.3","NM_001244666.1"]
["12307A(99)v15658",3,3,1,"12307A","SUCLA2","chr13:48517289","m.1666A>G(E11)","非编码区","rs4941618",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"线粒体DNA缺失综合征5型（脑肌病合并甲基丙二酸尿）","AR",612073,5,1,3,1,"SUCLA2",0.94,280,"非编码区",14200,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",8803,"13q12.2-q13.3","NM_003850.2"]
["12307A(99)v17714",120,119,0.99,"12307A","SUPT16H","chr14:21831112","IVS13-6G>A","剪切位点","rs10146717",0.8,0.88,0.89,0.87,null,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SUPT16H",1,240,"剪切位点",16202,"0.99=200/202","位于基因组单拷贝区域+DNA结构正常",11198,"14q11.2","NM_007192.3"]
["12307A(99)v27751",109,108,0.99,"12307A","SUSD5","chr3:33194990","c.1134C>A(E5)","p.378,E>D","rs6810039",0.66,0.88,0.9,0.86,0.9,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SUSD5",0.94,94,"错义",12220,"0.99=171/172","位于基因组单拷贝区域+DNA结构正常",26032,"3p22.3","NM_015551.1"]
["12307A(99)v10332",118,118,1,"12307A","SYCP2L","chr6:10891781","c.45C>T(E2)","p.15,D>D","rs1538441",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SYCP2L",1,310,"同义",13203,"0.99=227/230","位于基因组单拷贝区域+DNA结构正常",221711,"6p24.2","NM_001040274.2"]
["12307A(99)v26124",6,3,0.5,"12307A","SYNDIG1L","chr14:74876181","c.267T>G(E2)","p.89,T>T","rs12590672",0.46,0.46,0.43,0.49,0.42,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SYNDIG1L",0.93,27,"同义",13203,"0.50=6/12","位于基因组单拷贝区域+DNA结构正常",646658,"14q24.3","NM_001105579.1"]
["12307A(99)v27825",56,56,1,"12307A","SYNE2","chr14:64519455","c.8824A>G(E48)","p.2942,I>V","rs3829767",0.67,0.81,0.8,0.83,0.79,0.79,"纯合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良5型","AD",612999,5,1,19,1,"SYNE2",1,220,"错义",12220,"1.00=95/95","位于基因组单拷贝区域+DNA结构正常",23224,"14q23.2","NM_015180.4"]
["12307A(99)v23156",172,69,0.4,"12307A","SYNJ1","chr21:34014283","IVS27-7C>A","剪切位点","rs2833929",0.29,0.34,0.32,0.35,0.37,0.33,"杂合","无关","有rs号，MAF>=5%",null,"帕金森氏病20型（早发性）","AR",615530,5,3,3,1,"SYNJ1",1,260,"剪切位点",16202,"0.41=108/263","位于基因组单拷贝区域+DNA结构正常",8867,"21q22.2","NM_001160302.1"]
["12307A(99)v3721",50,50,1,"12307A","SYNM","chr15:99670989","c.2423T>C(E4)","p.808,L>P","rs3743248",0.79,0.73,0.73,0.72,0.73,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SYNM",0.83,81,"错义",12230,"0.99=74/75","位于基因组单拷贝区域+DNA结构正常",23336,"15q26.3","NM_015286.5"]
["12307A(99)v30201",17,17,1,"12307A","T","chr6:166572005","c.932T>C(E8)","p.311,N>S","rs3816300",0.22,0.52,0.53,0.51,0.45,0.52,"纯合","无关","有rs号，MAF>=5%",24990759,"骶骨发育不全伴脊柱畸形","AR",615709,5,1,1,2,"T",1,60,"错义",12220,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",6862,"6q27","NM_001270484.1"]
["12307A(99)v8088",36,19,0.53,"12307A","TACC2","chr10:123970569","c.863C>T(E3)","p.288,A>V","rs2295874",0.1,0.14,0.14,0.14,0.11,0.13,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,7,0,"TACC2",0.99,88,"错义",12220,"0.57=30/53","位于基因组单拷贝区域+DNA结构正常",10579,"10q26","NM_006997.2"]
["12307A(99)v12172",50,24,0.48,"12307A","TAF5L","chr1:229738170","c.744T>G(E4)","p.248,R>R","rs3753886",0.57,0.77,0.77,0.76,0.72,0.76,"杂合","无关","有rs号，MAF>=5%",18045485,{"$nulls":3},5,null,3,0,"TAF5L",1,87,"同义",13203,"0.45=37/83","位于基因组多拷贝区域+DNA结构正常",27097,"1q42.13","NM_001025247.1"]
["12307A(99)v28452",24,24,1,"12307A","TANC1","chr2:160086692","c.4755A>G(E27)","p.1585,T>T","rs3821296",0.48,0.61,0.63,0.59,0.56,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"TANC1",1,140,"同义",13203,"1.00=49/49","位于基因组单拷贝区域+DNA结构正常",85461,"2q24.2","NM_033394.2"]
["12307A(99)v25935",229,115,0.5,"12307A","TAS2R31","chr12:11183217","c.718C>T(E1)","p.240,V>I","rs10772423",0.34,0.21,0.22,0.2,0.26,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"TAS2R31",1,360,"错义",12220,"0.51=202/396","位于基因组多拷贝区域+DNA结构正常",259290,"12p13.2","NM_176885.2"]
["12307A(99)v10422",65,37,0.57,"12307A","TAS2R42","chr12:11338957","c.587A>G(E1)","p.196,F>S","rs5020531",0.54,0.75,0.73,0.77,0.7,0.75,"杂合","无关","有rs号，MAF>=5%",19092995,{"$nulls":3},5,null,8,0,"TAS2R42",1,140,"错义",12220,"0.61=66/109","位于基因组单拷贝区域+DNA结构正常",353164,"12p13","NM_181429.1"]
["12307A(99)v6523",8,1,0.12,"12307A","TBC1D1","chr4:38016176","c.464G>T(E3)","p.155,R>L","rs374116224",{"$nulls":5},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"TBC1D1",0.93,150,"错义",12310,"0.19=3/16","位于基因组单拷贝区域+DNA结构正常",23216,"4p14","NM_001253912.1"]
["12307A(99)v24751",6,6,1,"12307A","TBC1D9B","chr5:179290845","c.3305T>G(E21)","p.1102,K>T","rs30386",0.58,0.77,0.75,0.79,0.64,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TBC1D9B",0.97,46,"错义",12220,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",23061,"5q35.3","NM_015043.3"]
["12307A(99)v13546",227,226,1,"12307A","TBP","chr6:170878793","c.711T>C(E5)","p.237,N>N","rs1042327",0.61,0.8,0.79,0.81,0.78,0.79,"纯合","无关","有rs号，MAF>=5%",null,"迟发型帕金森病（易感）",null,168600,5,1,1,2,"TBP",1,230,"同义",13203,"0.99=402/408","位于基因组单拷贝区域+DNA结构正常",6908,"6q27","NM_001172085.1"]
["12307A(99)v5821",23,13,0.57,"12307A","TCEB3B","chr18:44560300","c.1336C>T(E1)","p.446,A>T","rs3744863",0.53,0.6,0.59,0.62,0.61,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TCEB3B",1,46,"错义",12220,"0.59=20/34","位于基因组单拷贝区域+DNA结构正常",51224,"18q21.1","NM_016427.2"]
["12307A(99)v23202",23,10,0.43,"12307A","TCF7L2","chr10:114925369","c.1447C>A(E14)","p.483,P>T","rs77961654",0.07,0.25,0.29,0.22,0.22,0.26,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,1,1,"TCF7L2",1,140,"错义",12220,"0.40=18/45","位于基因组单拷贝区域+DNA结构正常",6934,"10q25.3","NM_001146274.1"]
["12307A(99)v1539",132,132,1,"12307A","TDRD9","chr14:104429453","c.360A>G(E3)","p.120,T>T","rs6576013",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TDRD9",1,230,"同义",13203,"1.00=256/256","位于基因组单拷贝区域+DNA结构正常",122402,"14q32.33","NM_153046.2"]
["12307A(99)v7405",2,2,1,"12307A","TECRL","chr4:65145463","m.1528G>T(E12)","非编码区","rs2348313",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TECRL",1,330,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",253017,"4q13.1","NM_001010874.4"]
["12307A(99)v16862",38,15,0.39,"12307A","TENC1","chr12:53457704","m.4493C>A(E29)","非编码区","rs34922637",0.088,0.14,0.15,0.14,null,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TENC1",1,45,"非编码区",14200,"0.39=22/56","位于基因组单拷贝区域+DNA结构正常",23371,"12q13.13","NM_015319.2"]
["12307A(99)v31612",58,57,0.98,"12307A","TEX101","chr19:43910649","m.554G>T(E4)","非编码区","rs11673673",0.28,0.59,0.63,0.55,0.52,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TEX101",1,170,"非编码区",14200,"0.99=101/102","位于基因组单拷贝区域+DNA结构正常",83639,"19q13.31","NM_031451.4"]
["12307A(99)v21493",79,40,0.51,"12307A","TFF2","chr21:43766560","m.614G>A(E4)","非编码区","rs225334",0.59,0.25,0.25,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TFF2",1,100,"非编码区",14200,"0.50=63/126","位于基因组单拷贝区域+DNA结构正常",7032,"21q22.3","NM_005423.4"]
["12307A(99)v30080",70,22,0.31,"12307A","TG","chr8:133900386","c.2334T>C(E10)","p.778,P>P","rs2069550",0.67,0.77,0.78,0.77,0.71,0.76,"杂合","无关","有rs号，MAF>=5%",19438904,"甲状腺激素生成障碍3型","AR",274700,5,3,5,2,"TG",1,130,"同义",13203,"0.28=34/121","位于基因组单拷贝区域+DNA结构正常",7038,"8q24","NM_003235.4"]
["12307A(99)v7129",86,41,0.48,"12307A","TGFBR2","chr3:30713126","IVS4-4T>A","剪切位点","rs11466512",0.27,0.32,0.32,0.33,0.29,0.32,"杂合","无关","有rs号，MAF>=5%",null,"Loeys-Dietz综合征2型","AD",610168,5,1,3,3,"TGFBR2",1,140,"剪切位点",16202,"0.47=77/164","位于基因组单拷贝区域+DNA结构正常",7048,"3p22","NM_001024847.2"]
["12307A(99)v20319",6,6,1,"12307A","THAP10","chr15:71184495","c.117A>G(E1)","p.39,G>G","rs2955035",0.55,0.61,0.59,0.63,0.57,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"THAP10",0.95,160,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",56906,"15q23","NM_020147.3"]
["12307A(99)v9695",207,205,0.99,"12307A","THEM4","chr1:151867560","c.210G>A(E2)","p.70,D>D","rs3762427",0.92,0.95,0.93,0.98,0.95,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"THEM4",0.86,270,"同义",13203,"0.99=356/361","位于基因组多拷贝区域+DNA结构正常",117145,"1q21","NM_053055.4"]
["12307A(99)v18482",80,80,1,"12307A","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%",{"$nulls":4},5,null,5,0,"TIAM2",1,160,"同义",13203,"0.99=135/136","位于基因组单拷贝区域+DNA结构正常",26230,"6q25.2","NM_001010927.2"]
["12307A(99)v15642",70,34,0.49,"12307A","TIFA","chr4:113199075","c.498A>G(E2)","p.166,Y>Y","rs701759",0.65,0.77,0.76,0.79,0.73,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TIFA",1,100,"同义",13203,"0.47=53/113","位于基因组单拷贝区域+DNA结构正常",92610,"4q25","NM_052864.2"]
["12307A(99)v31211",182,182,1,"12307A","TJP2","chr9:71843023","c.1377C>A(E10)","p.459,D>E","rs2309428",0.77,0.9,0.9,0.9,0.84,0.89,"纯合","无关","有rs号，MAF>=5%","20403199;24752540","家族性高胆烷血症",null,607748,5,1,2,2,"TJP2",0.99,170,"错义",12220,"0.98=300/306","位于基因组单拷贝区域+DNA结构正常",9414,"9q13-q21","NM_001170414.2"]
["12307A(99)v30780",75,31,0.41,"12307A","TKTL2","chr4:164393117","c.1770T>A(E1)","p.590,Q>H","rs11735477",0.17,0.28,0.29,0.28,0.32,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TKTL2",1,110,"错义",12220,"0.37=46/123","位于基因组单拷贝区域+DNA结构正常",84076,"4q32.2","NM_032136.4"]
["12307A(99)v1450",50,50,1,"12307A","TLR5","chr1:223283910","c.2464A>G(E6)","p.822,F>L","rs7512943",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"类鼻疽（易感）",null,615557,5,1,2,3,"TLR5",1,140,"错义",12230,"1.00=78/78","位于基因组单拷贝区域+DNA结构正常",7100,"1q41-q42","NM_003268.5"]
["12307A(99)v23101",9,1,0.11,"12307A","TLR9","chr3:52255207","m.3759G>T(E2)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"TLR9",1,21,"非编码区",14400,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",54106,"3p21.3","NM_017442.3"]
["12307A(99)v18641",135,63,0.47,"12307A","TMC5","chr16:19471665","IVS6+9T>C","非编码区","rs6497375",0.81,0.84,0.86,0.83,null,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMC5",1,200,"非编码区",16203,"0.45=115/253","位于基因组单拷贝区域+DNA结构正常",79838,"16p12.3","NM_001105248.1"]
["12307A(99)v25959",103,103,1,"12307A","TMED3","chr15:79606137","c.207G>A(E2)","p.69,V>V","rs3825933",0.98,0.97,0.97,0.98,0.99,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMED3",1,83,"同义",13203,"1.00=208/208","位于基因组单拷贝区域+DNA结构正常",23423,"15q24-q25","NM_007364.2"]
["12307A(99)v7303",13,13,1,"12307A","TMEM126B","chr11:85347415","m.1001G>A(E6)","非编码区","rs1046216",0.37,0.38,0.39,0.37,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM126B",0.86,180,"非编码区",14200,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",55863,"11q14.1","NM_001193537.2"]
["12307A(99)v7822",71,34,0.48,"12307A","TMEM168","chr7:112424814","c.67C>T(E2)","p.23,V>I","rs150584875",0.012,0.055,0.048,0.063,0.066,0.033,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"TMEM168",1,170,"错义",12120,"0.45=54/119","位于基因组单拷贝区域+DNA结构正常",64418,"7q31.32","NM_022484.4"]
["12307A(99)v2427",13,8,0.62,"12307A","TMEM175","chr4:946974","IVS7-4G>A","剪切位点","rs2290405",0.57,0.5,0.5,0.5,null,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMEM175",0.82,32,"剪切位点",16202,"0.57=12/21","位于基因组单拷贝区域+DNA结构正常",84286,"4p16.3","NM_032326.2"]
["12307A(99)v3877",8,4,0.5,"12307A","TMEM206","chr1:212588190","m.54C>A(E1)","非编码区","rs2297306",0.071,0.11,0.12,0.092,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMEM206",0.85,130,"非编码区",14200,"0.43=6/14","位于基因组单拷贝区域+DNA结构正常",55248,"1q32.3","NM_001198862.1"]
["12307A(99)v23065",13,13,1,"12307A","TMEM242","chr6:157744588","m.666C>G(E1)","非编码区","rs4708868",0.33,0.56,0.54,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMEM242",1,250,"非编码区",14200,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",729515,"6q25.3","NM_018452.4"]
["12307A(99)v23535",297,4,0.01,"12307A","TMEM48","chr1:54298190-54298192","c.253(E3)至c.251(E3):缺失TTA","缺失非移码","rs577226450",{"$nulls":4},0,0.0034,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"TMEM48",1,250,"缺失非移码",2231,"0.01=4/336","位于基因组单拷贝区域+简单重复结构",55706,"1p32.3","NM_001168551.1"]
["12307A(99)v8478",6,6,1,"12307A","TMEM63C","chr14:77723185","m.2749C>T(E24)","非编码区","rs383459",0.3,0.6,0.58,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMEM63C",1,100,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",57156,"14q24.3","NM_020431.2"]
["12307A(99)v26336",110,52,0.47,"12307A","TMIGD1","chr17:28651930","c.544T>C(E4)","p.182,I>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"TMIGD1",1,200,"错义",12420,"0.50=89/177","位于基因组单拷贝区域+DNA结构正常",388364,"17q11.2","NM_206832.1"]
["12307A(99)v4939",73,29,0.4,"12307A","TMPO","chr12:98926903","c.868A>G(E4)","p.290,K>E","rs534940271",0.0002,0,0,0,0.0011,0.00069,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"扩张型心肌病1T型 ",null,613740,3,2,1,1,"TMPO",0.97,190,"错义",12120,"0.41=46/112","位于基因组单拷贝区域+DNA结构正常",7112,"12q22","NM_003276.2"]
["12307A(99)v6387",13,13,1,"12307A","TMPRSS5","chr11:113561057","c.1102A>G(E11)","p.368,L>L","rs7110738",0.77,0.72,0.72,0.72,0.64,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMPRSS5",1,58,"同义",13203,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",80975,"11q","NM_030770.2"]
["12307A(99)v22832",90,90,1,"12307A","TNFRSF11A","chr18:60036083","c.933A>G(E9)","p.311,T>T","rs8092336",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",24886600,"常染色体隐性骨硬化病7型",null,612301,5,1,2,3,"TNFRSF11A",0.92,98,"同义",13203,"1.00=161/161","位于基因组单拷贝区域+DNA结构正常",8792,"18q22.1","NM_003839.3"]
["12307A(99)v17183",229,229,1,"12307A","TNFRSF17","chr16:12060163","c.242A>G(E2)","p.81,N>S","rs373496",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","16318629;18254984",{"$nulls":3},5,null,2,0,"TNFRSF17",1,210,"错义",12220,"1.00=403/404","位于基因组单拷贝区域+DNA结构正常",608,"16p13.1","NM_001192.2"]
["12307A(99)v4557",48,24,0.5,"12307A","TNNC2","chr20:44451901","m.635T>C(E6)","非编码区","rs8860",0.63,0.59,0.59,0.59,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TNNC2",1,39,"非编码区",14200,"0.46=33/71","位于基因组单拷贝区域+DNA结构正常",7125,"20q12-q13.11","NM_003279.2"]
["12307A(99)v10006",81,81,1,"12307A","TNRC6B","chr22:40673999","IVS10-4C>T","剪切位点","rs2413621",0.64,1,1,0.99,0.98,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TNRC6B",1,150,"剪切位点",16202,"0.99=129/130","位于基因组单拷贝区域+DNA结构正常",23112,"22q13.1","NM_001024843.1"]
["12307A(99)v6242",7,2,0.29,"12307A","TOMM6","chr6:41755331","m.151C>T(E1)","非编码区","rs116891591",0.082,0.16,0.16,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TOMM6",1,170,"非编码区",14200,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",100188893,"6p21.1","NM_001134493.1"]
["12307A(99)v8205",10,1,0.1,"12307A","TOP3A","chr17:18181041","c.2775C>A(E18)","p.925,P>P","rs140576339",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"TOP3A",1,110,"同义",13303,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",7156,"17p12-p11.2","NM_004618.3"]
["12307A(99)v26893",42,42,1,"12307A","TP53","chr17:7579801","m.314G>C(E2)","非编码区","rs1642785",0.58,0.57,0.6,0.53,0.61,0.59,"杂合","无关","有rs号，MAF>=5%",null,"胰腺癌,易感2型",null,613347,5,2,3,11,"TP53",1,110,"非编码区",14200,"0.77=72/93","位于基因组单拷贝区域+DNA结构正常",7157,"17p13.1","NM_001126118.1"]
["12307A(99)v31710",168,158,0.94,"12307A","TP63","chr3:189507515-189507518","m.67(E1)至m.70(E1):缺失TCTC插入CCTCAGGG","非编码区","rs145588726,rs72592281,rs34201045",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",null,"睑缘粘连,外胚叶缺陷及裂唇（腭）综合征","AD",106260,3,1,5,6,"TP63",1,200,"非编码区",2430,"0.94=179/190","位于基因组单拷贝区域+DNA结构正常",8626,"3q28","NM_001114980.1"]
["12307A(99)v3407",4,4,1,"12307A","TPPP","chr5:678062","c.114A>G(E2)","p.38,A>A","rs450628",0.75,0.63,0.69,0.57,0.51,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TPPP",1,18,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",11076,"5p15.3","NM_007030.2"]
["12307A(99)v7561",9,7,0.78,"12307A","TPSD1","chr16:1306681","c.247G>A(E2)","p.83,V>M","rs1141967",0.44,0.82,0.84,0.79,0.72,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"TPSD1",1,42,"错义",12220,"0.86=12/14","位于基因组多拷贝区域+DNA结构正常",23430,"16p13.3","NM_012217.2"]
["12307A(99)v26840",362,84,0.23,"12307A","TPTE","chr21:10943003","c.530C>T(E11)","p.177,R>Q","rs1810856",{"$nulls":4},0.37,0.35,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"TPTE",1,1100,"错义",12310,"0.22=140/638","位于基因组多拷贝区域+DNA结构正常",7179,"21p11","NM_199259.2"]
["12307A(99)v5776",1,1,1,"12307A","TRAPPC10","chr21:45526076","m.6613C>T(E23)","非编码区","rs2516520",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TRAPPC10",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",7109,"21q22.3","NM_003274.4"]
["12307A(99)v29104",35,14,0.4,"12307A","TREML4","chr6:41204329","m.716A>T(E5)","非编码区","rs9349186",0.34,0.4,0.37,0.44,null,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"TREML4",1,130,"非编码区",14200,"0.34=20/58","位于基因组多拷贝区域+DNA结构正常",285852,"6p21.1","NM_198153.2"]
["12307A(99)v25443",7,5,0.71,"12307A","TRIM42","chr3:140396869","m.4C>T(E1)","非编码区","rs6762605",0.29,0.2,0.2,0.21,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TRIM42",1,100,"非编码区",14200,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",287015,"3q23","NM_152616.4"]
["12307A(99)v9810",46,45,0.98,"12307A","TRIM51","chr11:55652963","c.59A>G(E2)","p.20,N>S","rs2063276",0.68,0.79,0.84,0.74,0.74,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TRIM51",1,180,"错义",12210,"0.99=73/74","位于基因组多拷贝区域+DNA结构正常",84767,"11q11","NM_032681.3"]
["12307A(99)v17904",163,68,0.42,"12307A","TRIM6-TRIM34","chr11:5629607","c.840G>A(E5)","p.280,V>V","rs10769121",0.4,0.45,0.41,0.49,0.49,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TRIM6-TRIM34",1,130,"同义",13203,"0.43=128/297","位于基因组单拷贝区域+DNA结构正常",445372,"11p15","NM_001003819.3"]
["12307A(99)v25799",2,1,0.5,"12307A","TRIP6","chr7:100466441","c.688G>A(E4)","p.230,V>I","rs2075756",0.27,0.41,0.4,0.42,0.28,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TRIP6",0.98,28,"错义",12220,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",7205,"7q22","NM_003302.2"]
["12307A(99)v9410",204,204,1,"12307A","TRPA1","chr8:72975801","c.558T>G(E5)","p.186,K>N","rs7819749",0.83,0.99,1,0.99,0.96,0.99,"纯合","无关","有rs号，MAF>=5%",null,"家族性阵发性疼痛综合征-1","AD",615040,5,1,10,1,"TRPA1",1,310,"错义",12220,"1.00=458/459","位于基因组多拷贝区域+DNA结构正常",8989,"8q13","NM_007332.2"]
["12307A(99)v11389",41,41,1,"12307A","TRPV3","chr17:3458072","c.73T>C(E2)","p.25,I>V","rs322965",1,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"残毁性掌跖角化病伴腔口周围角化性斑块/OLMSTED综合征","AD",614594,5,1,7,1,"TRPV3",1,110,"错义",12220,"1.00=63/63","位于基因组单拷贝区域+DNA结构正常",162514,"17p13.2","NM_001258205.1"]
["12307A(99)v19661",8,8,1,"12307A","TSFM","chr12:58176614","c.30T>C(E1)","p.10,F>F","rs10747783",0.36,0.64,0.65,0.63,0.57,0.69,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷3型","AR",610505,5,1,2,1,"TSFM",0.99,110,"同义",13203,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",10102,"12q14.1","NM_001172695.1"]
["12307A(99)v3063",39,39,1,"12307A","TSLP","chr5:110407507","m.118C>T(E1)","非编码区","rs2289276",0.29,0.26,0.24,0.29,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TSLP",1,260,"非编码区",14200,"1.00=59/59","位于基因组单拷贝区域+DNA结构正常",85480,"5q22.1","NM_033035.4"]
["12307A(99)v25987",91,91,1,"12307A","TSPAN12","chr7:120428607","m.1331G>A(E8)","非编码区","rs41622",0.85,0.96,0.97,0.96,null,0.96,"纯合","无关","有rs号，MAF>=5%",null,"家族型渗出性玻璃体视网膜病变5型","AD",613310,5,1,2,1,"TSPAN12",1,310,"非编码区",14200,"0.99=140/141","位于基因组单拷贝区域+DNA结构正常",23554,"7q31.31","NM_012338.3"]
["12307A(99)v23810",7,1,0.14,"12307A","TTC16","chr9:130486498","c.972G>A(E8)","p.324,R>R",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"TTC16",1,42,"同义",13403,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",158248,"9q34.11","NM_144965.1"]
["12307A(99)v19676",35,23,0.66,"12307A","TTC4","chr1:55197149","IVS6-10T>C","剪切位点","rs3815226",0.26,0.58,0.56,0.6,null,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TTC4",1,220,"剪切位点",16202,"0.62=35/56","位于基因组多拷贝区域+DNA结构正常",7268,"1p32.3","NM_004623.4"]
["12307A(99)v15560",147,147,1,"12307A","TTK","chr6:80724312","IVS10+9A>G","非编码区","rs239566",0.68,0.69,0.67,0.71,null,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TTK",1,360,"非编码区",16203,"1.00=241/242","位于基因组单拷贝区域+DNA结构正常",7272,"6q13-q21","NM_001166691.1"]
["12307A(99)v14947",72,35,0.49,"12307A","TTN","chr2:179604366","c.12643T>G(E46)","p.4215,T>P","rs2562829",0.076,0.22,0.23,0.22,0.21,0.21,"杂合","无关","有rs号，MAF>=5%",20031603,"迟发性胫骨肌营养不良症","AD",600334,5,1,68,6,"TTN",0.99,170,"错义",12220,"0.50=53/106","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v14956",56,30,0.54,"12307A","TTN","chr2:179427536","c.78400T>C(E276)","p.26134,I>V","rs3829746",0.51,0.69,0.71,0.66,0.62,0.7,"杂合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,3,68,6,"TTN",0.99,170,"错义",12220,"0.56=50/90","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v14958",98,50,0.51,"12307A","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,"扩张型心肌病1G型",null,604145,5,2,68,6,"TTN",0.99,170,"错义",12220,"0.47=76/161","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v14965",258,105,0.41,"12307A","TTN","chr2:179558366","c.30613T>C(E117)","p.10205,I>V","rs2042995",0.48,0.55,0.6,0.5,0.5,0.58,"杂合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,3,68,6,"TTN",0.99,170,"错义",12220,"0.40=192/478","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v14971",35,35,1,"12307A","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,"先天性肌病,早发,伴心肌病","AR",611705,5,1,68,6,"TTN",0.99,170,"错义",12220,"1.00=52/52","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_133379.3"]
["12307A(99)v14975",50,49,0.98,"12307A","TTN","chr2:179659912","c.982G>A(E7)","p.328,R>C","rs16866538",0.24,0.6,0.62,0.58,0.59,0.6,"纯合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,1,68,6,"TTN",0.99,170,"错义",12210,"0.99=75/76","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v14983",105,45,0.43,"12307A","TTN","chr2:179579822","c.25140T>A(E88)","p.8380,L>L","rs2562836",0.44,0.66,0.7,0.63,0.65,0.67,"杂合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,68,6,"TTN",0.99,170,"同义",13203,"0.42=78/187","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v14991",101,48,0.48,"12307A","TTN","chr2:179397561","c.98858C>T(E308)","p.32953,R>H","rs3829747",0.21,0.4,0.44,0.35,0.38,0.43,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,3,68,6,"TTN",0.99,170,"错义",12210,"0.49=88/178","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v14996",60,35,0.58,"12307A","TTN","chr2:179581835","c.24675C>A(E86)","p.8225,Q>H","rs2562832",0.051,0.22,0.23,0.22,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,3,68,6,"TTN",0.99,170,"错义",12210,"0.57=52/91","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v14998",158,158,1,"12307A","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",600334,5,1,68,6,"TTN",0.99,170,"剪切位点",16202,"1.00=304/305","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v15007",125,58,0.46,"12307A","TTN","chr2:179574384","c.27711C>T(E97)","p.9237,R>R","rs2742332",0.075,0.22,0.23,0.22,0.22,0.22,"杂合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,3,68,6,"TTN",0.99,170,"同义",13203,"0.46=89/194","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v15009",44,15,0.34,"12307A","TTN","chr2:179629461","c.9781C>T(E42)","p.3261,V>M","rs2291311",0.8,0.77,0.76,0.78,0.76,0.76,"杂合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,3,68,6,"TTN",0.99,170,"错义",12220,"0.37=30/82","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12307A(99)v16814",140,139,0.99,"12307A","TUBA3E","chr2:130952725","c.302C>T(E3)","p.101,S>N","rs3863907",0.55,0.49,0.5,0.49,0.48,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"TUBA3E",1,190,"错义",12220,"1.00=233/234","位于基因组多拷贝区域+DNA结构正常",112714,"2q21.1","NM_207312.2"]
["12307A(99)v6005",110,51,0.46,"12307A","TUBE1","chr6:112394050","c.1005C>G(E10)","p.335,R>R","rs202193313",0.0006,0.0024,0.0048,0,0.011,0.0065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"TUBE1",1,280,"同义",13103,"0.46=99/217","位于基因组单拷贝区域+DNA结构正常",51175,"6q21","NM_016262.4"]
["12307A(99)v26105",44,44,1,"12307A","TULP1","chr6:35477032","c.776A>G(E8)","p.259,I>T","rs2064317",0.39,0.49,0.49,0.49,0.45,0.49,"纯合","无关","有rs号，MAF>=5%",19339744,"Leber先天性黑蒙15型","AR",613843,5,1,3,2,"TULP1",1,46,"错义",12220,"0.99=71/72","位于基因组单拷贝区域+DNA结构正常",7287,"6p21.3","NM_003322.3"]
["12307A(99)v26174",29,29,1,"12307A","TYK2","chr19:10475652","c.1084C>A(E8)","p.362,V>F","rs2304256",0.27,0.52,0.59,0.46,0.41,0.52,"纯合","无关","有rs号，MAF>=5%","15657875;18270328;19440814;19442287;19567624;19604093;19653082;19714582;19758313;19966805;21140222;21829393;22592861;23000200;24946689;25147926","TYK2缺乏症/高IgE综合征伴非典型分支杆菌病（隐性遗传）","AR",611521,5,1,3,1,"TYK2",1,36,"错义",12220,"0.98=53/54","位于基因组单拷贝区域+DNA结构正常",7297,"19p13.2","NM_003331.4"]
["12307A(99)v15940",13,6,0.46,"12307A","UBAC1","chr9:138825117","m.1565A>C(E10)","非编码区","rs6569",0.51,0.51,0.54,0.48,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"UBAC1",0.97,70,"非编码区",14200,"0.33=6/18","位于基因组单拷贝区域+DNA结构正常",10422,"9q34.3","NM_016172.2"]
["12307A(99)v26295",30,14,0.47,"12307A","UBQLN3","chr11:5529139","c.1650T>C(E2)","p.550,A>A","rs2234456",0.19,0.053,0.057,0.049,0.055,0.052,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"UBQLN3",1,95,"同义",13203,"0.48=27/56","位于基因组单拷贝区域+DNA结构正常",50613,"11p15","NM_017481.2"]
["12307A(99)v10744",47,20,0.43,"12307A","UBXN11","chr1:26627478","c.138T>C(E4)","p.46,S>S","rs2276712",0.57,0.44,0.45,0.44,0.45,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"UBXN11",0.97,41,"同义",13203,"0.46=36/78","位于基因组单拷贝区域+DNA结构正常",91544,"1p36.11","NM_001077262.1"]
["12307A(99)v8267",36,16,0.44,"12307A","UGT1A1","chr2:234669144","c.211G>A(E1)","p.71,G>R","rs4148323",0.034,0.19,0.16,0.23,0.2,0.15,"杂合","较高","有疾病相关报道","17424838;18547414;19238116;19243019;19267064;19343046;19482841;19572200;20389299;20639394;23371916;24339312;24944790;25171434;18004206;19830808;8280139;7715297;9621515;11013440;11061796;","Crigler-Najjar综合征2型","AR",606785,1,3,4,5,"UGT1A1",1,150,"错义",11100,"0.46=29/63","位于基因组单拷贝区域+DNA结构正常",54658,"2q37","NM_000463.2"]
["12307A(99)v5500",61,30,0.49,"12307A","UGT1A4","chr2:234681015","c.1415C>T(E5)","p.472,A>V",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"UGT1A4",1,220,"错义",12410,"0.47=44/93","位于基因组单拷贝区域+DNA结构正常",54657,"2q37","NM_007120.2"]
["12307A(99)v23570",8,8,1,"12307A","UHRF1","chr19:4945914","c.1347A>C(E10)","p.449,I>I","rs2250982",0.66,0.66,0.64,0.68,0.62,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"UHRF1",1,49,"同义",13203,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",29128,"19p13.3","NM_001048201.1"]
["12307A(99)v1000",133,73,0.55,"12307A","UIMC1","chr5:176378574","c.1344G>T(E10)","p.448,T>T","rs365132",0.59,0.48,0.49,0.47,0.52,0.49,"杂合","无关","有rs号，MAF>=5%","19448621;22267201;23307926;23508249",{"$nulls":3},5,null,2,0,"UIMC1",1,190,"同义",13203,"0.56=134/240","位于基因组单拷贝区域+DNA结构正常",51720,"5q35.2","NM_001199297.1"]
["12307A(99)v24357",232,8,0.03,"12307A","ULK4","chr3:41939991-41939991","IVS13-7:缺失T","非编码区","rs112168426",0.22,0.25,0.28,0.22,0.0079,0.036,"杂合","无关","内含子突变",{"$nulls":4},5,null,11,0,"ULK4",1,260,"非编码区",2500,"0.04=10/264","位于基因组多拷贝区域+DNA结构正常",54986,"3p22.1","NM_017886.2"]
["12307A(99)v969",81,33,0.41,"12307A","UNC5CL","chr6:40998141","c.1320G>A(E8)","p.440,C>C","rs736795",0.28,0.27,0.28,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UNC5CL",0.99,44,"同义",13203,"0.39=57/147","位于基因组单拷贝区域+DNA结构正常",222643,"6p21.1","NM_173561.2"]
["12307A(99)v22764",31,14,0.45,"12307A","USB1","chr16:58054037","IVS5-8G>A","剪切位点","rs370086533",0.0008,0,0,0,null,null,"杂合","未知","剪切位点预测结果为无害",null,"皮肤异色病合并中性粒细胞减少症","AR",604173,4,3,1,1,"USB1",0.88,93,"剪切位点",16102,"0.46=27/59","位于基因组单拷贝区域+DNA结构正常",79650,"16q21","NM_001195302.1"]
["12307A(99)v17305",25,14,0.56,"12307A","USH2A","chr1:216373416","c.3364A>C(E17)","p.1122,S>A","rs148135241",8.6E-3,0.058,0.038,0.078,0.046,0.058,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"视网膜色素变性39型-AR",null,613809,3,2,12,2,"USH2A",1,210,"错义",12120,"0.56=22/39","位于基因组单拷贝区域+DNA结构正常",7399,"1q41","NM_007123.5"]
["12307A(99)v11458",14,14,1,"12307A","USO1","chr4:76649924","m.96C>G(E1)","非编码区","rs2280095",0.9,0.92,0.9,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"USO1",1,280,"非编码区",14200,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",8615,"4q21.1","NM_003715.2"]
["12307A(99)v25304",28,28,1,"12307A","USP35","chr11:77921527","c.2626G>C(E10)","p.876,A>P","rs2512526",0.85,0.64,0.68,0.61,0.63,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"USP35",0.84,39,"错义",12220,"0.98=47/48","位于基因组单拷贝区域+DNA结构正常",57558,"11q14.1","NM_020798.2"]
["12307A(99)v17849",17,17,1,"12307A","USP51","chrX:55514818","c.555C>T(E2)","p.185,E>E","rs3126255",null,0.68,0.67,0.69,0.61,0.65,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"USP51",1,120,"同义",13303,"1.00=30/30","位于基因组单拷贝区域+DNA结构正常",158880,"Xp11.21","NM_201286.3"]
["12307A(99)v21667",12,12,1,"12307A","VARS2","chr6:30887972","c.852C>T(E12)","p.284,S>S","rs2285319",0.39,0.5,0.52,0.47,0.44,0.56,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷20型","AR",615917,5,1,3,1,"VARS2",0.53,28,"同义",13203,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",57176,"6p21.33","NM_001167733.1"]
["12307A(99)v19129",70,31,0.44,"12307A","VCAN","chr5:82833369","c.1586A>G(E7)","p.529,K>R","rs309559",0.47,0.35,0.38,0.33,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",null,"Wagner综合症","AD",143200,5,1,11,1,"VCAN",1,170,"错义",12220,"0.49=53/108","位于基因组单拷贝区域+DNA结构正常",1462,"5q14.3","NM_001164097.1"]
["12307A(99)v14821",100,99,0.99,"12307A","VN1R1","chr19:57967133","c.722G>A(E1)","p.241,S>F","rs28649880",0.41,0.63,0.6,0.66,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"VN1R1",1,170,"错义",12210,"0.99=166/168","位于基因组多拷贝区域+DNA结构正常",57191,"19q13.4","NM_020633.3"]
["12307A(99)v31494",1,1,1,"12307A","VPS13C","chr15:62157467","m.13634C>A(E82)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"VPS13C",1,300,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54832,"15q22.2","NM_001018088.2"]
["12307A(99)v25553",117,47,0.4,"12307A","VPS53","chr17:526907","c.982G>T(E11)","p.328,L>I","rs16954056",0.094,0.22,0.2,0.24,0.24,0.23,"杂合","无关","有rs号，MAF>=5%",null,"桥脑小脑发育不全2E型","AR",615851,5,3,3,1,"VPS53",1,200,"错义",12220,"0.42=86/206","位于基因组单拷贝区域+DNA结构正常",55275,"17p13.3","NM_001128159.2"]
["12307A(99)v29129",42,41,0.98,"12307A","VTN","chr17:26694861","c.1199G>A(E7)","p.400,T>M","rs704",0.56,0.77,0.8,0.73,0.71,0.72,"纯合","无关","有rs号，MAF>=5%",18194558,{"$nulls":3},5,null,2,0,"VTN",1,62,"错义",12220,"0.99=70/71","位于基因组单拷贝区域+DNA结构正常",7448,"17q11","NM_000638.3"]
["12307A(99)v29120",11,3,0.27,"12307A","VWF","chr12:6172202","c.1451T>C(E13)","p.484,H>R","rs1800378",0.52,0.67,0.65,0.69,0.62,0.71,"杂合","无关","有rs号，MAF>=5%",null,"I型 von Willebrand病","AD",193400,5,1,8,3,"VWF",0.97,92,"错义",12220,"0.30=6/20","位于基因组单拷贝区域+DNA结构正常",7450,"12p13.3","NM_000552.3"]
["12307A(99)v16502",80,38,0.47,"12307A","WDFY2","chr13:52313195","c.609C>T(E7)","p.203,T>T","rs1885854",0.13,0.14,0.15,0.13,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"WDFY2",1,170,"同义",13203,"0.45=61/135","位于基因组单拷贝区域+DNA结构正常",115825,"13q14.3","NM_052950.3"]
["12307A(99)v14616",369,3,0.01,"12307A","WDHD1","chr14:55429694-55429696","c.2138(E18)至c.2136(E18):缺失TCT","缺失非移码","rs138036839",2.8E-3,0,0,0,0,0.00073,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"WDHD1",1,320,"缺失非移码",2212,"0.01=3/416","位于基因组单拷贝区域+简单重复结构",11169,"14q22.2","NM_001008396.2"]
["12307A(99)v11219",25,25,1,"12307A","WDR45L","chr17:80573681","m.1344A>G(E10)","非编码区","rs3764356",0.18,0.24,0.25,0.23,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WDR45L",0.94,190,"非编码区",14200,"1.00=30/30","位于基因组多拷贝区域+DNA结构正常",56270,"17q25.3","NM_019613.3"]
["12307A(99)v8750",5,2,0.4,"12307A","WDR6","chr3:49052785","m.3658T>A(E6)","非编码区","rs8926",0.76,0.94,0.95,0.93,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"WDR6",1,48,"非编码区",14200,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",11180,"3p21.31","NM_018031.3"]
["12307A(99)v29197",39,39,1,"12307A","WDR78","chr1:67390468","c.47C>G(E1)","p.16,G>A","rs1886686",0.84,0.89,0.89,0.89,0.88,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"WDR78",1,300,"错义",12220,"1.00=64/64","位于基因组单拷贝区域+DNA结构正常",79819,"1p31.3","NM_024763.4"]
["12307A(99)v10666",62,25,0.4,"12307A","WDR87","chr19:38377773","c.6421G>A(E6)","p.2141,R>W","rs34785154",{"$nulls":4},0.55,0.55,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,14,0,"WDR87",1,110,"错义",12310,"0.39=38/98","位于基因组单拷贝区域+DNA结构正常",83889,"19q13.13","NM_031951.3"]
["12307A(99)v17961",9,9,1,"12307A","WFS1","chr4:6292915","IVS4-9A>G","剪切位点","rs10010131",0.73,0.93,0.87,0.98,0.87,0.93,"纯合","无关","有rs号，MAF>=5%",null,"WOLFRAM 综合征1型（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AR",222300,5,1,13,5,"WFS1",1,41,"剪切位点",16202,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_001145853.1"]
["12307A(99)v17968",5,5,1,"12307A","WFS1","chr4:6293696","c.684C>G(E6)","p.228,R>R","rs1801213",null,0.93,0.87,0.98,0.85,0.94,"纯合","未知","预测范围之外的同义突变",21127832,"白内障41型","AD",116400,4,1,13,5,"WFS1",1,41,"同义",13303,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_001145853.1"]
["12307A(99)v17969",5,5,1,"12307A","WFS1","chr4:6304286","m.2930C>T(E8)","非编码区","rs1046319",0.85,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"WOLFRAM 综合征1型（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AR",222300,5,1,13,5,"WFS1",1,41,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_001145853.1"]
["12307A(99)v30426",27,12,0.44,"12307A","WNT10A","chr2:219754966","c.637G>A(E3)","p.213,G>S","rs147680216",2.8E-3,0.022,0.0095,0.034,0.024,0.024,"杂合","可能相关","蛋白结构预测结果为有害",null,"Schopf-Schulz-Passarge综合症","AR",224750,2,3,1,3,"WNT10A",0.61,40,"错义",12110,"0.44=19/43","位于基因组单拷贝区域+DNA结构正常",80326,"2q35","NM_025216.2"]
["12307A(99)v6873",135,135,1,"12307A","WRN","chr8:30924557","c.513C>T(E6)","p.171,C>C","rs1800389",0.69,0.86,0.84,0.88,0.82,0.86,"纯合","无关","有rs号，MAF>=5%",18978339,"Werner综合征","AR",277700,5,1,6,1,"WRN",1,330,"同义",13203,"1.00=240/240","位于基因组单拷贝区域+DNA结构正常",7486,"8p12","NM_000553.4"]
["12307A(99)v7146",1,1,1,"12307A","WWTR1","chr3:149237489","m.2563G>A(E8)","非编码区","rs13073865",0.47,0.5,0.52,0.48,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"WWTR1",1,180,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",25937,"3q23-q24","NM_001168278.1"]
["12307A(99)v29728",36,35,0.97,"12307A","XCL2","chr1:168511349","IVS1-4A>G","剪切位点","rs4478789",0.31,0.68,0.63,0.73,null,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"XCL2",1,230,"剪切位点",16202,"0.98=44/45","位于基因组多拷贝区域+DNA结构正常",6846,"1q24.2","NM_003175.3"]
["12307A(99)v8785",24,11,0.46,"12307A","XRCC6BP1","chr12:58335626","c.142A>T(E1)","p.48,S>C","rs3751325",0.33,0.64,0.68,0.61,0.6,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"XRCC6BP1",1,250,"错义",12220,"0.55=22/40","位于基因组单拷贝区域+DNA结构正常",91419,"12q14.1","NM_033276.2"]
["12307A(99)v27562",13,6,0.46,"12307A","XYLT1","chr16:17202757","c.2675C>T(E12)","p.892,R>Q","rs35309694",0.14,0.055,0.048,0.063,0.032,0.038,"杂合","无关","有rs号，MAF>=5%",null,"德比夸发育不良2型","AR",615777,5,3,4,2,"XYLT1",0.85,87,"错义",12220,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",64131,"16p12.3","NM_022166.3"]
["12307A(99)v1425",83,38,0.46,"12307A","YTHDC2","chr5:112889065","IVS13+9G>A","非编码区","rs60871281",0.33,0.24,0.26,0.22,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"YTHDC2",1,270,"非编码区",16203,"0.45=58/129","位于基因组单拷贝区域+DNA结构正常",64848,"5q22.2","NM_022828.3"]
["12307A(99)v2799",248,248,1,"12307A","ZBBX","chr3:167077691","c.399T>A(E8)","p.133,V>V","rs4257551",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZBBX",0.95,300,"同义",13203,"1.00=493/493","位于基因组单拷贝区域+DNA结构正常",79740,"3q26.1","NM_001199201.1"]
["12307A(99)v23559",45,45,1,"12307A","ZBTB5","chr9:37441808","c.741A>G(E2)","p.247,D>D","rs309450",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZBTB5",1,86,"同义",13203,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",9925,"9p13.2","NM_014872.2"]
["12307A(99)v4450",6,6,1,"12307A","ZC3H3","chr8:144620855","c.682C>A(E2)","p.228,A>S","rs4873802",0.15,0.082,0.062,0.1,0.08,0.088,"纯合","无关","有rs号，MAF>=5%",20018080,{"$nulls":3},5,null,5,0,"ZC3H3",0.96,15,"错义",12220,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",23144,"8q24.3","NM_015117.2"]
["12307A(99)v3134",126,126,1,"12307A","ZCCHC2","chr18:60237388","c.1899A>G(E12)","p.633,S>S","rs8096750",0.87,1,0.99,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZCCHC2",0.78,170,"同义",13203,"1.00=242/242","位于基因组单拷贝区域+DNA结构正常",54877,"18q21.33","NM_017742.4"]
["12307A(99)v132",24,8,0.33,"12307A","ZEB1","chr10:31816261","m.3787A>G(E9)","非编码区","rs78595841",0.0026,0.0048,0.0048,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"Fuchs角膜内皮营养不良6型",null,613270,3,2,1,2,"ZEB1",1,200,"非编码区",14100,"0.30=11/37","位于基因组单拷贝区域+DNA结构正常",6935,"10p11.2","NM_001128128.2"]
["12307A(99)v21085",96,48,0.5,"12307A","ZFHX4","chr8:77754904","c.3408G>A(E6)","p.1136,E>E","rs1825366",0.23,0.036,0.033,0.039,0.047,0.057,"杂合","无关","有rs号，MAF>=5%",null,"先天性遗传性上睑下垂症1型","AD",178300,5,1,7,1,"ZFHX4",1,130,"同义",13203,"0.48=84/175","位于基因组单拷贝区域+DNA结构正常",79776,"8q21.11","NM_024721.4"]
["12307A(99)v2950",55,55,1,"12307A","ZFYVE16","chr5:79734297","c.1793T>C(E4)","p.598,I>T","rs259028",0.85,0.91,0.91,0.9,0.89,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZFYVE16",1,230,"错义",12230,"1.00=92/92","位于基因组单拷贝区域+DNA结构正常",9765,"5q14","NM_001105251.1"]
["12307A(99)v135",43,42,0.98,"12307A","ZG16","chr16:29790864","c.94G>A(E3)","p.32,G>S","rs235636",0.83,0.95,0.94,0.96,0.91,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZG16",1,79,"错义",12220,"0.97=75/77","位于基因组单拷贝区域+DNA结构正常",653808,"16p11.2","NM_152338.3"]
["12307A(99)v19416",52,30,0.58,"12307A","ZIM3","chr19:57646218","m.1873C>T(E5)","非编码区","rs17305549",0.13,0.44,0.44,0.43,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZIM3",1,140,"非编码区",14200,"0.60=42/70","位于基因组单拷贝区域+DNA结构正常",114026,"-","NM_052882.1"]
["12307A(99)v4522",74,73,0.99,"12307A","ZNF117","chr7:64438667","c.1282G>A(E4)","p.428,R>X","rs1404453",0.88,0.88,0.9,0.86,0.84,0.85,"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%",21205862,{"$nulls":3},5,null,12,0,"ZNF117",1,150,"截断",15200,"0.99=114/115","位于基因组多拷贝区域+DNA结构正常",51351,"7q11.21","NM_015852.3"]
["12307A(99)v5824",136,133,0.98,"12307A","ZNF184","chr6:27425185","c.79C>A(E4)","p.27,A>S","rs1883216",0.62,0.53,0.5,0.55,0.55,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF184",1,160,"错义",12220,"0.98=234/238","位于基因组单拷贝区域+DNA结构正常",7738,"6p21.3","NM_007149.2"]
["12307A(99)v19541",5,5,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ZNF2",1,110,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",7549,"2q11.2","NM_001017396.1"]
["12307A(99)v28917",97,97,1,"12307A","ZNF221","chr19:44471323","c.1669G>A(E6)","p.557,G>R","rs366111",0.85,0.85,0.84,0.86,0.87,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF221",1,210,"错义",12220,"1.00=171/171","位于基因组多拷贝区域+DNA结构正常",7638,"19q13.2","NM_013359.2"]
["12307A(99)v16470",70,40,0.57,"12307A","ZNF239","chr10:44053540","m.322T>C(E4)","非编码区","rs117513280",0.0048,0.019,0.014,0.024,null,0.034,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF239",1,150,"非编码区",14100,"0.59=70/119","位于基因组单拷贝区域+DNA结构正常",8187,"10q11.22-q11.23","NM_001099282.1"]
["12307A(99)v21387",157,73,0.46,"12307A","ZNF259","chr11:116655084","IVS9+10G>A","非编码区","rs139678706",0.0044,0.026,0.024,0.029,0.011,0.021,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"ZNF259",1,150,"非编码区",16103,"0.48=166/348","位于基因组单拷贝区域+DNA结构正常",8882,"11q23.3","NM_003904.3"]
["12307A(99)v29544",103,50,0.49,"12307A","ZNF292","chr6:87968565","c.5218A>G(E8)","p.1740,I>V","rs9362415",0.59,0.57,0.54,0.6,0.56,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF292",0.99,180,"错义",12220,"0.43=74/171","位于基因组单拷贝区域+DNA结构正常",23036,"6q14.3","NM_015021.1"]
["12307A(99)v23577",125,65,0.52,"12307A","ZNF324B","chr19:58966644","c.333A>T(E4)","p.111,P>P","rs60037165",0.13,0.26,0.29,0.24,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF324B",1,51,"同义",13203,"0.50=125/248","位于基因组多拷贝区域+DNA结构正常",388569,"19q13.43","NM_207395.2"]
["12307A(99)v20883",38,38,1,"12307A","ZNF366","chr5:71739546","m.2458C>G(E5)","非编码区","rs4267851",0.88,0.97,0.97,0.97,null,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF366",1,73,"非编码区",14200,"1.00=61/61","位于基因组单拷贝区域+DNA结构正常",167465,"5q13.2|5q13.2","NM_152625.1"]
["12307A(99)v20002",143,66,0.46,"12307A","ZNF416","chr19:58083706","c.1566G>A(E4)","p.522,Y>Y","rs75651199",7.6E-3,0.036,0.043,0.029,0.058,0.046,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZNF416",1,180,"同义",13103,"0.48=145/304","位于基因组多拷贝区域+DNA结构正常",55659,"19q13.4","NM_017879.1"]
["12307A(99)v15150",7,7,1,"12307A","ZNF443","chr19:12551789","m.138A>C(E1)","非编码区","rs3745658",0.37,0.34,0.33,0.35,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ZNF443",1,290,"非编码区",14200,"1.00=15/15","位于基因组多拷贝区域+DNA结构正常",10224,"19p13.2","NM_005815.4"]
["12307A(99)v26957",10,10,1,"12307A","ZNF469","chr16:88499539","c.5577C>G(E2)","p.1859,T>T","rs9931465",0.78,0.87,0.89,0.84,0.75,0.88,"纯合","无关","有rs号，MAF>=5%",null,"脆性角膜综合症1型","AR",229200,5,1,16,1,"ZNF469",0.85,13,"同义",13203,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",84627,"16q24","NM_001127464.1"]
["12307A(99)v16206",162,70,0.43,"12307A","ZNF510","chr9:99525487","c.265A>G(E5)","p.89,C>R","rs3780548",0.093,0.094,0.076,0.11,0.12,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF510",1,160,"错义",12220,"0.45=128/283","位于基因组单拷贝区域+DNA结构正常",22869,"9q22.33","NM_014930.1"]
["12307A(99)v14430",6,1,0.17,"12307A","ZNF526","chr19:42729684","c.1129G>A(E3)","p.377,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,"ZNF526",1,36,"错义",12420,"0.27=4/15","位于基因组单拷贝区域+DNA结构正常",116115,"19q13.2","NM_133444.1"]
["12307A(99)v8726",4,4,1,"12307A","ZNF549","chr19:58038964","c.23T>A(E1)","p.8,I>N","rs12461014",0.99,1,1,1,0.85,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF549",0.98,140,"错义",12230,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",256051,"19q13.43","NM_001199295.1"]
["12307A(99)v3717",1,1,1,"12307A","ZNF57","chr19:2900930","m.35C>T(E1)","非编码区","rs12981209",0.75,0.71,0.67,0.76,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF57",1,190,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",126295,"19p13.3","NM_173480.2"]
["12307A(99)v11030",59,23,0.39,"12307A","ZNF606","chr19:58491627","c.421T>C(E7)","p.141,S>G","rs11673029",0.13,0.077,0.076,0.078,0.076,0.078,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF606",1,130,"错义",12220,"0.41=42/103","位于基因组单拷贝区域+DNA结构正常",80095,"19q13.4","NM_025027.3"]
["12307A(99)v16245",95,95,1,"12307A","ZNF623","chr8:144732418","c.256A>G(E2)","p.86,N>D","rs4874084",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF623",1,130,"错义",12230,"1.00=157/157","位于基因组单拷贝区域+DNA结构正常",9831,"8q24.3","NM_001082480.2"]
["12307A(99)v7019",8,8,1,"12307A","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",{"$nulls":4},4,null,16,0,"ZNF626",1,160,"非编码区",2420,"1.00=8/8","位于基因组多拷贝区域+DNA结构正常",199777,"19p12","NM_001076675.2"]
["12307A(99)v12687",89,89,1,"12307A","ZNF665","chr19:53669273","c.470T>C(E4)","p.157,H>R","rs4801959",0.93,0.88,0.87,0.88,0.9,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF665",1,170,"错义",12220,"1.00=143/143","位于基因组多拷贝区域+DNA结构正常",79788,"19q13.42","NM_024733.3"]
["12307A(99)v3779",129,63,0.49,"12307A","ZNF682","chr19:20135066","c.27G>T(E2)","p.9,V>V","rs61739376",0.092,0.21,0.2,0.22,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF682",1,160,"同义",13203,"0.48=107/221","位于基因组多拷贝区域+DNA结构正常",91120,"19p12","NM_001077349.1"]
["12307A(99)v10341",235,69,0.29,"12307A","ZNF717","chr3:75786854","c.1920A>T(E5)","p.640,T>T","rs76921234",{"$nulls":4},0.47,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,46,0,"ZNF717",1,430,"同义",13303,"0.30=114/386","位于基因组多拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223.1"]
["12307A(99)v10367",314,24,0.08,"12307A","ZNF717","chr3:75787812-75787813","c.962(E5)至c.961(E5):插入T","插入移码","rs143242394",{"$nulls":4},0.022,0,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,46,0,"ZNF717",1,430,"插入移码",2130,"0.08=25/331","位于基因组单拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223.1"]
["12307A(99)v20854",31,17,0.55,"12307A","ZNF765","chr19:53914108","m.3423C>T(E4)","非编码区","rs2068630",0.76,0.68,0.7,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.55=27/49","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12307A(99)v20857",91,56,0.62,"12307A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"错义",12220,"0.58=84/145","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12307A(99)v20858",150,76,0.51,"12307A","ZNF765","chr19:53912242","c.1434G>A(E4)","p.478,T>T","rs10426347",0.77,0.67,0.7,0.65,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"同义",13203,"0.49=131/268","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12307A(99)v20859",67,19,0.28,"12307A","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",{"$nulls":4},3,null,7,0,"ZNF765",1,260,"非编码区",2430,"0.27=20/73","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12307A(99)v26945",14,1,0.07,"12307A","ZNF768","chr16:30536486","c.975G>T(E2)","p.325,A>A",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZNF768",0.89,53,"同义",13403,"0.14=4/29","位于基因组多拷贝区域+DNA结构正常",79724,"16p11.2","NM_024671.3"]
["12307A(99)v15387",33,19,0.58,"12307A","ZNF770","chr15:35273620","c.2016C>T(E3)","p.672,Q>Q","rs4923849",0.47,0.38,0.4,0.37,0.29,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF770",1,130,"同义",13203,"0.56=28/50","位于基因组多拷贝区域+DNA结构正常",54989,"15q14","NM_014106.3"]
["12307A(99)v11163",90,89,0.99,"12307A","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",{"$nulls":4},3,null,5,0,"ZNF772",1,170,"错义",12320,"0.99=146/147","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12307A(99)v11164",106,106,1,"12307A","ZNF772","chr19:57985566","c.546G>C(E5)","p.182,C>W","rs2074060",0.68,0.69,0.68,0.71,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF772",1,170,"错义",12220,"1.00=168/168","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12307A(99)v11165",94,93,0.99,"12307A","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%",{"$nulls":4},5,null,5,0,"ZNF772",1,170,"同义",13203,"0.98=157/160","位于基因组多拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12307A(99)v11166",3,3,1,"12307A","ZNF772","chr19:57984426","m.1947C>A(E5)","非编码区","rs10407042",0.41,0.63,0.6,0.66,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF772",1,170,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12307A(99)v11167",6,4,0.67,"12307A","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",{"$nulls":4},4,null,5,0,"ZNF772",1,170,"插入非移码",2222,"0.67=4/6","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12307A(99)v6532",135,74,0.55,"12307A","ZNF773","chr19:58018497","c.1034G>A(E4)","p.345,S>N","rs190737852",0.0008,0.0072,0.014,0,0.01,0.0075,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ZNF773",1,210,"错义",12120,"0.50=121/240","位于基因组多拷贝区域+DNA结构正常",374928,"19q13.43","NM_198542.1"]
["12307A(99)v6533",2,2,1,"12307A","ZNF773","chr19:58011421","m.113G>T(E1)","非编码区","rs12463137",0.26,0.31,0.27,0.35,0.22,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF773",1,210,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",374928,"19q13.43","NM_198542.1"]
["12307A(99)v6534",16,16,1,"12307A","ZNF773","chr19:58018848","m.1525A>G(E4)","非编码区","rs2066936",0.44,0.62,0.58,0.66,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF773",1,210,"非编码区",14200,"1.00=21/21","位于基因组多拷贝区域+DNA结构正常",374928,"19q13.43","NM_198542.1"]
["12307A(99)v20634",60,59,0.98,"12307A","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,{"$nulls":3},5,null,2,0,"ZNF774",1,160,"错义",12220,"0.98=94/96","位于基因组单拷贝区域+DNA结构正常",342132,"15q26.1","NM_001004309.2"]
["12307A(99)v20635",82,38,0.46,"12307A","ZNF774","chr15:90903502","c.439G>A(E4)","p.147,V>I","rs11854320",0.096,0.058,0.052,0.063,0.031,0.049,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF774",1,160,"错义",12220,"0.45=56/124","位于基因组单拷贝区域+DNA结构正常",342132,"15q26.1","NM_001004309.2"]
["12307A(99)v2018",4,2,0.5,"12307A","ZNF775","chr7:150093701","c.132A>C(E3)","p.44,I>I","rs940453",0.84,0.81,0.78,0.84,0.6,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF775",0.52,2.3,"同义",13203,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",285971,"7q36.1","NM_173680.3"]
["12307A(99)v19832",3,3,1,"12307A","ZNF776","chr19:58266192","m.1957C>T(E3)","非编码区","rs12609667",0.3,0.45,0.47,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,200,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",284309,"19q13.43","NM_173632.3"]
["12307A(99)v19833",7,2,0.29,"12307A","ZNF776","chr19:58258466","IVS1+7G>T","非编码区","rs60751243",0.28,0.47,0.49,0.46,0.41,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,200,"非编码区",16203,"0.27=3/11","位于基因组单拷贝区域+DNA结构正常",284309,"19q13.43","NM_173632.3"]
["12307A(99)v22567",6,1,0.17,"12307A","ZNF777","chr7:149129368","c.1995C>T(E6)","p.665,T>T",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF777",0.98,38,"同义",13403,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",27153,"7q36.1","NM_015694.2"]
["12307A(99)v22568",56,24,0.43,"12307A","ZNF777","chr7:149152906","c.208G>A(E2)","p.70,R>W","rs3735318",0.6,0.8,0.82,0.78,0.8,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF777",0.98,38,"错义",12220,"0.45=38/85","位于基因组单拷贝区域+DNA结构正常",27153,"7q36.1","NM_015694.2"]
["12307A(99)v22569",24,8,0.33,"12307A","ZNF777","chr7:149152770","c.344A>G(E2)","p.115,V>A","rs3735319",0.66,0.8,0.83,0.78,0.77,0.83,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF777",0.98,38,"错义",12220,"0.41=12/29","位于基因组单拷贝区域+DNA结构正常",27153,"7q36.1","NM_015694.2"]
["12307A(99)v4890",54,30,0.56,"12307A","ZNF778","chr16:89294595","c.1899C>T(E7)","p.633,I>I","rs74466939",0.16,0.22,0.19,0.25,0.27,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"0.55=45/82","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12307A(99)v4891",81,81,1,"12307A","ZNF778","chr16:89294511","c.1815C>T(E7)","p.605,T>T","rs28638280",0.77,0.89,0.88,0.9,0.89,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"1.00=151/151","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12307A(99)v4892",56,56,1,"12307A","ZNF778","chr16:89293614","c.918A>G(E7)","p.306,E>E","rs4785626",0.77,0.89,0.88,0.9,0.89,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"1.00=86/86","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12307A(99)v4893",92,90,0.98,"12307A","ZNF778","chr16:89294184","c.1488G>A(E7)","p.496,A>A","rs4785627",0.77,0.89,0.88,0.9,0.9,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"0.99=146/148","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12307A(99)v4894",123,123,1,"12307A","ZNF778","chr16:89294381","c.1685T>C(E7)","p.562,I>T","rs28415940",0.7,0.68,0.68,0.68,0.72,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"错义",12220,"1.00=214/214","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12307A(99)v4895",66,66,1,"12307A","ZNF778","chr16:89294697","c.2001C>T(E7)","p.667,H>H","rs60437616",0.7,0.68,0.68,0.68,0.7,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"1.00=112/112","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12307A(99)v4896",109,109,1,"12307A","ZNF778","chr16:89294439","c.1743G>T(E7)","p.581,Q>H","rs9921361",0.7,0.68,0.68,0.68,0.72,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"错义",12220,"0.99=190/191","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12307A(99)v4897",69,39,0.57,"12307A","ZNF778","chr16:89293271","c.575A>C(E7)","p.192,K>T","rs28417933",0.59,0.54,0.53,0.55,0.61,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"错义",12220,"0.55=58/105","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12307A(99)v12034",8,8,1,"12307A","ZNF780A","chr19:40579842","m.2732C>G(E6)","非编码区","rs427461",0.35,0.27,0.24,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF780A",1,290,"非编码区",14200,"1.00=12/12","位于基因组多拷贝区域+DNA结构正常",284323,"19q13.2","NM_001010880.2"]
["12307A(99)v12035",1,1,1,"12307A","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%",{"$nulls":4},5,null,3,0,"ZNF780A",1,290,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",284323,"19q13.2","NM_001142579.1"]
["12307A(99)v12036",1,1,1,"12307A","ZNF780A","chr19:40578273","m.1036A>G(E9)","非编码区","rs142626224",0.0048,0.034,0.014,0.053,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZNF780A",1,290,"非编码区",14100,"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"]
["12307A(99)v25542",323,1,0,"12307A","ZNF780B","chr19:40541454-40541454","c.1312(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,"ZNF780B",1,260,"缺失移码",2140,"0.01=2/382","位于基因组多拷贝区域+简单重复结构",163131,"19q13.2","NM_001005851.2"]
["12307A(99)v9491",31,17,0.55,"12307A","ZNF781","chr19:38159409","m.2383G>A(E4)","非编码区","rs8108261",0.086,0.084,0.1,0.068,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF781",1,180,"非编码区",14200,"0.59=32/54","位于基因组多拷贝区域+DNA结构正常",163115,"19q13.12","NM_152605.3"]
["12307A(99)v9492",23,12,0.52,"12307A","ZNF781","chr19:38159530","m.2262C>T(E4)","非编码区","rs2927747",0.63,0.4,0.38,0.41,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF781",1,180,"非编码区",14200,"0.55=21/38","位于基因组多拷贝区域+DNA结构正常",163115,"19q13.12","NM_152605.3"]
["12307A(99)v9493",76,38,0.5,"12307A","ZNF781","chr19:38160383","c.667T>G(E4)","p.223,I>L","rs56281742",0.086,0.084,0.1,0.068,0.098,0.099,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF781",1,180,"错义",12220,"0.48=58/120","位于基因组多拷贝区域+DNA结构正常",163115,"19q13.12","NM_152605.3"]
["12307A(99)v26929",77,43,0.56,"12307A","ZNF782","chr9:99580834","c.1471A>C(E6)","p.491,S>A","rs75989782",0.033,0.096,0.081,0.11,0.12,0.11,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ZNF782",1,140,"错义",12110,"0.60=79/132","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12307A(99)v26930",64,32,0.5,"12307A","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%",{"$nulls":4},5,null,3,0,"ZNF782",1,140,"错义",12220,"0.49=51/105","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12307A(99)v26931",61,30,0.49,"12307A","ZNF782","chr9:99581916","c.389C>G(E6)","p.130,R>P","rs7870376",0.22,0.32,0.29,0.35,0.35,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,140,"错义",12220,"0.50=48/96","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12307A(99)v22628",3,1,0.33,"12307A","ZNF784","chr19:56133223","c.866A>C(E2)","p.289,L>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,1,0,"ZNF784",0.86,3.5,"错义",12420,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",147808,"19q13.42","NM_203374.1"]
["12307A(99)v19485",83,39,0.47,"12307A","ZNF789","chr7:99081730","c.229A>G(E4)","p.77,T>A","rs6962772",0.46,0.34,0.35,0.33,0.34,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF789",1,160,"错义",12220,"0.44=61/138","位于基因组单拷贝区域+DNA结构正常",285989,"7q22.1","NM_213603.2"]
["12307A(99)v8797",135,66,0.49,"12307A","ZNF79","chr9:130191186","c.92C>T(E2)","p.31,T>I","rs13292096",0.56,0.4,0.4,0.4,0.39,0.39,"杂合","无关","有rs号，MAF>=5%",25010687,{"$nulls":3},5,null,3,0,"ZNF79",1,140,"错义",12220,"0.51=134/262","位于基因组单拷贝区域+DNA结构正常",7633,"9q34","NM_007135.2"]
["12307A(99)v8798",134,68,0.51,"12307A","ZNF79","chr9:130197414","c.151A>G(E3)","p.51,R>G","rs4504745",0.56,0.4,0.4,0.4,0.39,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF79",1,140,"错义",12220,"0.49=127/259","位于基因组单拷贝区域+DNA结构正常",7633,"9q34","NM_007135.2"]
["12307A(99)v8799",67,31,0.46,"12307A","ZNF79","chr9:130206669","c.690C>T(E5)","p.230,F>F","rs2298182",0.14,0.23,0.2,0.26,0.23,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF79",1,140,"同义",13203,"0.48=54/112","位于基因组多拷贝区域+DNA结构正常",7633,"9q34","NM_007135.2"]
["12307A(99)v9567",76,31,0.41,"12307A","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%",{"$nulls":4},5,null,1,0,"ZNF790",1,180,"错义",12210,"0.41=43/104","位于基因组多拷贝区域+DNA结构正常",388536,"19q13.12","NM_001242800.1"]
["12307A(99)v13259",8,8,1,"12307A","ZNF792","chr19:35454604","m.350A>C(E1)","非编码区","rs2546028",0.64,0.65,0.67,0.63,null,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12307A(99)v13260",52,52,1,"12307A","ZNF792","chr19:35449082","c.1677G>A(E4)","p.559,D>D","rs3746243",0.26,0.45,0.49,0.41,0.4,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"同义",13203,"1.00=84/84","位于基因组多拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12307A(99)v13261",8,8,1,"12307A","ZNF792","chr19:35454605","m.349A>G(E1)","非编码区","rs2546029",0.64,0.65,0.67,0.63,null,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"非编码区",14200,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12307A(99)v13262",26,26,1,"12307A","ZNF792","chr19:35448803","m.2343C>A(E4)","非编码区","rs1063235",0.65,0.64,0.67,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"非编码区",14200,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12307A(99)v13263",58,56,0.97,"12307A","ZNF792","chr19:35450229","c.530C>T(E4)","p.177,R>Q","rs2651079",0.63,0.64,0.66,0.62,0.63,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"错义",12220,"0.98=105/107","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12307A(99)v26115",95,42,0.44,"12307A","ZNF793","chr19:38028579","c.1019G>A(E8)","p.340,R>H","rs45505797",0.067,0.075,0.076,0.073,0.084,0.088,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF793",1,130,"错义",12220,"0.44=64/145","位于基因组单拷贝区域+DNA结构正常",390927,"19q13.12","NM_001013659.2"]
["12307A(99)v26116",1,1,1,"12307A","ZNF793","chr19:38032410","m.5292A>G(E8)","非编码区","rs12608477",0.9,0.92,0.94,0.89,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF793",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",390927,"19q13.12","NM_001013659.2"]
["12307A(99)v75",161,71,0.44,"12307A","ZNF799","chr19:12502457","c.755A>G(E4)","p.252,L>P","rs4804669",0.72,0.54,0.5,0.58,0.55,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF799",1,300,"错义",12220,"0.43=115/267","位于基因组多拷贝区域+DNA结构正常",90576,"19p13.2","NM_001080821.2"]
["12307A(99)v4479",99,45,0.45,"12307A","ZNF8","chr19:58806083","c.909T>C(E4)","p.303,H>H","rs260471",0.38,0.48,0.41,0.54,0.5,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF8",1,84,"同义",13203,"0.44=83/188","位于基因组多拷贝区域+DNA结构正常",7554,"19q13.43","NM_021089.2"]
["12307A(99)v3616",34,18,0.53,"12307A","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",{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"错义",12220,"0.56=29/52","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v3617",46,46,1,"12307A","ZNF804A","chr2:185801755","c.1632A>G(E4)","p.544,T>T","rs4667002",0.79,0.89,0.91,0.87,0.86,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF804A",1,160,"同义",13203,"1.00=74/74","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v3618",35,12,0.34,"12307A","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,{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"同义",13203,"0.34=20/58","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v3619",75,75,1,"12307A","ZNF804A","chr2:185800905","c.782A>T(E4)","p.261,Q>L","rs12476147",0.62,0.85,0.88,0.81,0.8,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF804A",1,160,"错义",12220,"1.00=131/131","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v3620",49,49,1,"12307A","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",{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"错义",12220,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v3621",49,49,1,"12307A","ZNF804A","chr2:185802363","c.2240A>G(E4)","p.747,H>R","rs12477430",0.7,0.88,0.9,0.85,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",19844207,{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"错义",12220,"1.00=66/66","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v3622",60,33,0.55,"12307A","ZNF804A","chr2:185803811","m.4282T>G(E4)","非编码区","rs192818983",0.0004,0.0048,0.0048,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,9,0,"ZNF804A",1,160,"非编码区",14100,"0.49=43/88","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v3623",111,111,1,"12307A","ZNF804A","chr2:185802243","c.2120C>A(E4)","p.707,T>K","rs1366842",0.49,0.86,0.89,0.83,0.8,0.85,"纯合","无关","有rs号，MAF>=5%","14681825;22871346",{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"错义",12220,"1.00=186/186","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v3624",132,95,0.72,"12307A","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",{"$nulls":4},4,null,9,0,"ZNF804A",1,160,"插入非移码",2221,"0.72=100/139","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12307A(99)v26741",132,53,0.4,"12307A","ZNF804B","chr7:88963039","c.743G>A(E4)","p.248,C>Y","rs1916830",0.15,0.45,0.44,0.47,0.43,0.46,"杂合","无关","有rs号，MAF>=5%",20547088,{"$nulls":3},5,null,4,0,"ZNF804B",1,170,"错义",12210,"0.37=93/252","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12307A(99)v26742",179,87,0.49,"12307A","ZNF804B","chr7:88964196","c.1900T>A(E4)","p.634,F>I","rs801840",0.52,0.68,0.67,0.68,0.6,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"错义",12220,"0.51=156/307","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12307A(99)v26743",83,41,0.49,"12307A","ZNF804B","chr7:88964000","c.1704C>T(E4)","p.568,F>F","rs801839",0.51,0.68,0.67,0.68,0.59,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"同义",13203,"0.47=57/120","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12307A(99)v26744",212,212,1,"12307A","ZNF804B","chr7:88956699","c.291A>G(E3)","p.97,V>V","rs38971",0.31,0.69,0.67,0.7,0.67,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"同义",13203,"1.00=420/421","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12307A(99)v26170",69,34,0.49,"12307A","ZNF808","chr19:53057925","c.1756C>A(E5)","p.586,R>S","rs75830912",0.074,0.22,0.21,0.23,0.17,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF808",1,210,"错义",12220,"0.54=59/110","位于基因组多拷贝区域+DNA结构正常",388558,"19q13.41","NM_001039886.3"]
["12307A(99)v26171",30,17,0.57,"12307A","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%",{"$nulls":4},5,null,2,0,"ZNF808",1,210,"非编码区",14200,"0.52=26/50","位于基因组多拷贝区域+DNA结构正常",388558,"19q13.41","NM_001039886.3"]
["12307A(99)v13681",132,132,1,"12307A","ZNF813","chr19:53995004","c.1518G>A(E4)","p.506,R>R","rs2708845",0.78,0.64,0.65,0.64,0.6,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"同义",13203,"1.00=215/215","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13682",158,74,0.47,"12307A","ZNF813","chr19:53993764","c.278A>T(E4)","p.93,D>V","rs12609217",0.06,0.21,0.24,0.17,0.2,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"错义",12210,"0.45=114/256","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13683",41,15,0.37,"12307A","ZNF813","chr19:53995530","m.2172A>C(E4)","非编码区","rs10402859",0.093,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"非编码区",14200,"0.43=29/68","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13684",118,55,0.47,"12307A","ZNF813","chr19:53993670","c.184G>A(E4)","p.62,A>T","rs2617667",0.3,0.24,0.2,0.28,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"错义",12220,"0.46=98/213","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13685",45,22,0.49,"12307A","ZNF813","chr19:53995750","m.2392C>T(E4)","非编码区","rs2708843",0.5,0.31,0.28,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"非编码区",14200,"0.49=35/72","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13686",3,1,0.33,"12307A","ZNF813","chr19:53996459","m.3101A>C(E4)","非编码区","rs2708842",0.17,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"非编码区",14200,"0.50=2/4","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13687",129,55,0.43,"12307A","ZNF813","chr19:53994178","c.692G>A(E4)","p.231,R>K","rs10421308",0.092,0.11,0.095,0.13,0.097,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"错义",12220,"0.41=81/198","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13688",577,150,0.26,"12307A","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,13,0,"ZNF813",1,270,"同义",13303,"0.23=275/1178","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13689",537,141,0.26,"12307A","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,13,0,"ZNF813",1,270,"同义",13303,"0.25=256/1043","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13690",14,4,0.29,"12307A","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%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"非编码区",14200,"0.33=7/21","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13691",590,154,0.26,"12307A","ZNF813","chr19:53990002","c.132G>A(E3)","p.44,L>L","rs12974996",{"$nulls":4},0.26,0.28,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ZNF813",1,270,"同义",13303,"0.25=306/1203","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13692",179,88,0.49,"12307A","ZNF813","chr19:53993988","c.502A>T(E4)","p.168,I>F","rs12460628",0.092,0.11,0.095,0.13,0.098,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,270,"错义",12210,"0.50=147/293","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v13693",28,7,0.25,"12307A","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",{"$nulls":4},4,null,13,0,"ZNF813",1,270,"非编码区",2420,"0.29=9/31","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12307A(99)v3443",181,76,0.42,"12307A","ZNF814","chr19:58385748","c.1010G>A(E3)","p.337,A>V","rs145250945",{"$nulls":4},0.49,0.39,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ZNF814",1,250,"错义",12320,"0.41=133/326","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12307A(99)v3444",176,80,0.45,"12307A","ZNF814","chr19:58385762","c.996C>G(E3)","p.332,S>S","rs199732634",{"$nulls":4},0.48,0.27,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ZNF814",1,250,"同义",13303,"0.44=131/298","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12307A(99)v3445",139,139,1,"12307A","ZNF814","chr19:58385954","c.804T>C(E3)","p.268,K>K","rs10412929",0.31,0.45,0.47,0.43,0.45,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF814",1,250,"同义",13203,"1.00=219/219","位于基因组单拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12307A(99)v3446",1,1,1,"12307A","ZNF814","chr19:58381086","m.5944G>T(E3)","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,5,0,"ZNF814",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",730051,"19q13.43","NM_001144989.1"]
["12307A(99)v3447",43,43,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ZNF814",1,250,"非编码区",14200,"1.00=64/64","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12307A(99)v5046",1,1,1,"12307A","ZNF816-ZNF321P","chr19:53430896","m.2172G>C(E4)","非编码区","rs8104434",0.84,0.95,0.96,0.94,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF816-ZNF321P",1,240,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",100529240,"19q","NM_001202473.1"]
["12307A(99)v19563",11,7,0.64,"12307A","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%",{"$nulls":4},5,null,1,0,"ZNF823",1,210,"非编码区",14200,"0.64=7/11","位于基因组单拷贝区域+DNA结构正常",55552,"19p13.2","NM_001080493.2"]
["12307A(99)v341",29,12,0.41,"12307A","ZNF83","chr19:53117809","c.9C>A(E6)","p.3,G>G","rs10406458",0.71,0.72,0.7,0.73,0.63,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"同义",13203,"0.39=14/36","位于基因组单拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105549.1"]
["12307A(99)v342",139,138,0.99,"12307A","ZNF83","chr19:53158924","m.290C>T(E3)","非编码区","rs3745105",0.58,0.7,0.7,0.71,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",14200,"0.99=294/296","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001242531.1"]
["12307A(99)v343",37,17,0.46,"12307A","ZNF83","chr19:53122009","m.305C>T(E4)","非编码区","rs10402372",0.28,0.56,0.55,0.58,null,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",14200,"0.44=20/45","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105553.1"]
["12307A(99)v344",79,40,0.51,"12307A","ZNF83","chr19:53117531","c.287C>T(E6)","p.96,S>N","rs1056185",0.71,0.72,0.7,0.73,0.68,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"错义",12220,"0.53=60/114","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105549.1"]
["12307A(99)v345",13,7,0.54,"12307A","ZNF83","chr19:53116060","m.2500G>A(E6)","非编码区","rs1046648",0.61,0.66,0.65,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",14200,"0.50=10/20","位于基因组单拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105549.1"]
["12307A(99)v346",19,19,1,"12307A","ZNF83","chr19:53164088","m.200A>G(E2)","非编码区","rs12972623",0.47,0.56,0.57,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",14200,"1.00=33/33","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001242531.1"]
["12307A(99)v347",7,2,0.29,"12307A","ZNF83","chr19:53159176-53159177","UTR:缺失AT","非编码区","rs58419919",0.58,0.7,0.7,0.71,0.021,null,"杂合","无关","不在基因上的突变",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",2600,"0.29=2/7","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105549.1"]
["12307A(99)v3207",4,4,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ZNF830",1,85,"非编码区",14200,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857.3"]
["12307A(99)v3208",31,31,1,"12307A","ZNF830","chr17:33288882","c.297T>G(E1)","p.99,H>Q","rs931196",0.88,0.95,0.95,0.94,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF830",1,85,"错义",12220,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857.3"]
["12307A(99)v22020",44,44,1,"12307A","ZNF831","chr20:57829301","c.4537T>C(E5)","p.1513,S>P","rs259956",0.62,0.89,0.89,0.89,0.86,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"错义",12220,"1.00=62/62","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12307A(99)v22021",19,15,0.79,"12307A","ZNF831","chr20:57769140","c.3066G>C(E1)","p.1022,L>F","rs55786258",0.17,0.23,0.25,0.21,0.18,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"错义",12220,"0.81=21/26","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12307A(99)v22022",20,10,0.5,"12307A","ZNF831","chr20:57768399","c.2325T>C(E1)","p.775,A>A","rs442091",0.36,0.33,0.33,0.33,0.25,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"同义",13203,"0.51=21/41","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12307A(99)v22023",33,18,0.55,"12307A","ZNF831","chr20:57768984","c.2910T>G(E1)","p.970,S>R",{"$nulls":6},0.00024,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"ZNF831",0.98,47,"错义",12420,"0.55=34/62","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12307A(99)v22024",6,3,0.5,"12307A","ZNF831","chr20:57768743","c.2669C>T(E1)","p.890,A>V","rs56057707",0.18,0.23,0.25,0.21,0.18,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"错义",12220,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12307A(99)v22025",7,4,0.57,"12307A","ZNF831","chr20:57768657","c.2583T>C(E1)","p.861,D>D","rs41276962",0.12,0.23,0.25,0.21,0.16,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"同义",13203,"0.55=6/11","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12307A(99)v22026",38,24,0.63,"12307A","ZNF831","chr20:57829821-57829822","m.5057(E5)至m.5058(E5):插入TT","非编码区","rs528101238",0.62,0.89,0.89,0.89,0.095,0.89,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,7,0,"ZNF831",0.98,47,"非编码区",2420,"0.60=27/45","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12307A(99)v10187",15,1,0.07,"12307A","ZNF835","chr19:57175017","c.1550T>C(E2)","p.517,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,1,0,"ZNF835",0.98,24,"错义",12420,"0.14=4/29","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12307A(99)v28304",72,72,1,"12307A","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%",{"$nulls":4},5,null,4,0,"ZNF836",1,190,"错义",12220,"1.00=105/105","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12307A(99)v28305",86,85,0.99,"12307A","ZNF836","chr19:52659991","c.945A>G(E5)","p.315,Y>Y","rs1821278",0.5,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,190,"同义",13203,"0.99=166/167","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12307A(99)v28306",71,34,0.48,"12307A","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%",{"$nulls":4},5,null,4,0,"ZNF836",1,190,"同义",13203,"0.47=50/106","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12307A(99)v28307",76,33,0.43,"12307A","ZNF836","chr19:52658510","c.2426T>C(E5)","p.809,N>S","rs8113504",0.29,0.4,0.44,0.37,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,190,"错义",12220,"0.44=51/115","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12307A(99)v12166",5,3,0.6,"12307A","ZNF837","chr19:58880242","c.458T>C(E3)","p.153,Q>R","rs7256940",0.15,0.33,0.3,0.37,0.22,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF837",0.37,1.8,"错义",12220,"0.64=7/11","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466.1"]
["12307A(99)v12167",1,1,1,"12307A","ZNF837","chr19:58879660","c.1040T>C(E3)","p.347,Y>C","rs61746138",0.15,0.33,0.3,0.36,0.2,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF837",0.37,1.8,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466.1"]
["12307A(99)v12168",2,1,0.5,"12307A","ZNF837","chr19:58880184","c.516T>C(E3)","p.172,P>P","rs7256809",0.15,0.33,0.3,0.36,0.21,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF837",0.37,1.8,"同义",13203,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466.1"]
["12307A(99)v1655",68,67,0.99,"12307A","ZNF839","chr14:102792631","c.250G>A(E2)","p.84,D>N","rs7158139",0.42,0.35,0.3,0.4,0.35,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF839",0.9,93,"错义",12220,"0.99=99/100","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12307A(99)v1656",82,82,1,"12307A","ZNF839","chr14:102798055","c.940G>A(E3)","p.314,A>T","rs1543540",0.17,0.3,0.25,0.35,0.32,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF839",0.9,93,"错义",12220,"1.00=154/154","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12307A(99)v1657",122,122,1,"12307A","ZNF839","chr14:102792386","c.5T>C(E2)","p.2,L>P","rs7158731",0.42,0.35,0.3,0.4,0.36,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF839",0.9,93,"错义",12220,"1.00=200/200","位于基因组多拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12307A(99)v18097",117,116,0.99,"12307A","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",1,330,"同义",13303,"0.98=197/200","位于基因组多拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12307A(99)v18098",68,31,0.46,"12307A","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",1,330,"剪切位点",16302,"0.44=51/115","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12307A(99)v18099",20,20,1,"12307A","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",1,330,"非编码区",14300,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12307A(99)v22602",136,62,0.46,"12307A","ZNF841","chr19:52569057","c.2078C>T(E7)","p.693,S>N","rs72483950",0.019,0.087,0.086,0.087,0.074,0.1,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ZNF841",1,200,"错义",12120,"0.48=108/226","位于基因组多拷贝区域+DNA结构正常",284371,"19q13.41","NM_001136499.1"]
["12307A(99)v27845",7,1,0.14,"12307A","ZNF843","chr16:31447426","c.745C>T(E2)","p.249,E>K",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ZNF843",1,17,"错义",12420,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",283933,"16p11.2","NM_001136509.1"]
["12307A(99)v14339",138,63,0.46,"12307A","ZNF844","chr19:12187020","c.1085G>A(E4)","p.362,R>K","rs79356129",0.02,0.082,0.1,0.063,0.055,0.14,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZNF844",1,220,"错义",12120,"0.46=107/232","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12307A(99)v14340",23,11,0.48,"12307A","ZNF844","chr19:12175667","m.122G>C(E1)","非编码区","rs564178735",0.0008,0.0072,0.0095,0.0049,0.013,0.0065,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNF844",1,220,"非编码区",14100,"0.42=17/40","位于基因组单拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12307A(99)v31567",159,74,0.47,"12307A","ZNF845","chr19:53854397","c.469G>C(E4)","p.157,E>Q","rs10415799",0.34,0.45,0.48,0.43,0.49,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF845",1,220,"错义",12220,"0.46=125/271","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12307A(99)v31568",411,200,0.49,"12307A","ZNF845","chr19:53848837","c.94C>T(E3)","p.32,L>L","rs56683540",0.13,0.13,0.14,0.12,0.14,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF845",1,220,"同义",13203,"0.48=382/800","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12307A(99)v31569",404,209,0.52,"12307A","ZNF845","chr19:53848845","c.102G>A(E3)","p.34,R>R","rs57319493",0.13,0.13,0.14,0.12,0.16,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF845",1,220,"同义",13203,"0.50=397/789","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12307A(99)v31570",342,185,0.54,"12307A","ZNF845","chr19:53848779","c.36T>C(E3)","p.12,D>D","rs75887836",0.13,0.13,0.15,0.12,0.22,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF845",1,220,"同义",13203,"0.54=323/598","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12307A(99)v10972",19,9,0.47,"12307A","ZNF853","chr7:6656897","c.89A>G(E2)","p.30,Q>R","rs1806552",0.77,0.76,0.76,0.77,0.74,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF853",0.71,16,"错义",12220,"0.41=13/32","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12307A(99)v10973",14,7,0.5,"12307A","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%",{"$nulls":4},5,null,2,0,"ZNF853",0.71,16,"错义",12220,"0.44=11/25","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12307A(99)v11621",6,1,0.17,"12307A","ZNF860","chr3:32032666","m.2644G>T(E2)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,10,0,"ZNF860",1,220,"非编码区",14400,"0.22=2/9","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11622",136,75,0.55,"12307A","ZNF860","chr3:32031852","c.1281G>A(E2)","p.427,K>K","rs138977513",0.0074,0.036,0.029,0.044,0.04,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ZNF860",1,220,"同义",13103,"0.53=129/242","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11623",162,80,0.49,"12307A","ZNF860","chr3:32031622","c.1051T>C(E2)","p.351,F>L","rs13087612",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,220,"错义",12210,"0.50=131/264","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11624",112,39,0.35,"12307A","ZNF860","chr3:32031962","c.1391A>G(E2)","p.464,H>R","rs1808125",0.62,0.74,0.78,0.71,0.73,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,220,"错义",12220,"0.32=64/202","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11625",133,62,0.47,"12307A","ZNF860","chr3:32031135","c.564A>G(E2)","p.188,S>S","rs6419811",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,220,"同义",13203,"0.48=121/250","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11626",60,28,0.47,"12307A","ZNF860","chr3:32030544","m.522C>T(E2)","非编码区","rs11129475",0.39,0.28,0.27,0.29,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,220,"非编码区",14200,"0.41=35/86","位于基因组单拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11627",157,76,0.48,"12307A","ZNF860","chr3:32031615","c.1044A>C(E2)","p.348,E>D","rs13064905",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,220,"错义",12220,"0.49=125/256","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11628",82,48,0.59,"12307A","ZNF860","chr3:32032397","c.1826G>T(E2)","p.609,R>L","rs4955216",0.43,0.28,0.27,0.29,0.27,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,220,"错义",12220,"0.55=74/134","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11629",122,60,0.49,"12307A","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%",{"$nulls":4},5,null,10,0,"ZNF860",1,220,"同义",13203,"0.53=98/185","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v11630",163,79,0.48,"12307A","ZNF860","chr3:32031643","c.1072A>G(E2)","p.358,T>A","rs13065048",0.47,0.42,0.43,0.41,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,220,"错义",12220,"0.49=123/252","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12307A(99)v9991",20,5,0.25,"12307A","ZNF862","chr7:149543269","c.166C>T(E3)","p.56,R>C","rs62621204",0.18,0.22,0.25,0.19,0.23,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"错义",12220,"0.25=10/40","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12307A(99)v9992",7,3,0.43,"12307A","ZNF862","chr7:149558409","c.2160G>C(E7)","p.720,L>L","rs2240361",0.38,0.33,0.33,0.33,0.24,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"同义",13203,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12307A(99)v9993",54,40,0.74,"12307A","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%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"同义",13203,"0.77=79/103","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12307A(99)v9994",29,17,0.59,"12307A","ZNF862","chr7:149559465","c.3216C>T(E7)","p.1072,G>G","rs2074701",0.44,0.33,0.33,0.33,0.29,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"同义",13203,"0.50=23/46","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12307A(99)v9995",23,11,0.48,"12307A","ZNF862","chr7:149559273","c.3024C>T(E7)","p.1008,L>L","rs2074700",0.37,0.33,0.33,0.33,0.28,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"同义",13203,"0.49=19/39","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12307A(99)v2465",279,2,0.01,"12307A","ZNF878","chr19:12157201-12157201","c.173(E3):缺失T","缺失移码",{"$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",{"$nulls":4},1,null,1,0,"ZNF878",1,230,"缺失移码",2140,"0.01=2/305","位于基因组多拷贝区域+DNA结构正常",729747,"19p13.2","NM_001080404.2"]
["12307A(99)v12436",85,43,0.51,"12307A","ZNF879","chr5:178459283","c.334A>G(E5)","p.112,T>A","rs17078988",0.36,0.46,0.49,0.43,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF879",1,150,"错义",12220,"0.54=75/139","位于基因组单拷贝区域+DNA结构正常",345462,"5q35.3","NM_001136116.1"]
["12307A(99)v12437",103,48,0.47,"12307A","ZNF879","chr5:178459426","c.477A>C(E5)","p.159,E>D","rs17078991",0.36,0.46,0.49,0.43,0.43,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF879",1,150,"错义",12220,"0.48=80/168","位于基因组单拷贝区域+DNA结构正常",345462,"5q35.3","NM_001136116.1"]
["12307A(99)v26446",131,58,0.44,"12307A","ZNF880","chr19:52888245","c.1412A>G(E4)","p.471,K>R","rs55748277",0.41,0.31,0.34,0.27,0.29,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF880",1,210,"错义",12210,"0.43=96/224","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12307A(99)v26447",75,40,0.53,"12307A","ZNF880","chr19:52887427","c.594A>C(E4)","p.198,R>S","rs8104808",0.38,0.3,0.33,0.27,0.29,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF880",1,210,"错义",12220,"0.54=61/114","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12307A(99)v26448",70,35,0.5,"12307A","ZNF880","chr19:52887437","c.604A>C(E4)","p.202,N>H","rs8104812",0.38,0.3,0.33,0.27,0.3,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF880",1,210,"错义",12220,"0.50=55/109","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12307A(99)v26449",76,34,0.45,"12307A","ZNF880","chr19:52887904","c.1071T>C(E4)","p.357,C>C","rs2042913",{"$nulls":4},0.28,0.31,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"ZNF880",1,210,"同义",13303,"0.46=59/128","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12307A(99)v26450",64,34,0.53,"12307A","ZNF880","chr19:52888620","m.1836T>G(E4)","非编码区","rs3170100",0.42,0.31,0.34,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF880",1,210,"非编码区",14200,"0.52=46/89","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12307A(99)v26451",129,62,0.48,"12307A","ZNF880","chr19:52888210","c.1377T>C(E4)","p.459,T>T","rs56151179",{"$nulls":4},0.29,0.35,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"ZNF880",1,210,"同义",13303,"0.52=118/227","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12307A(99)v26452",198,46,0.23,"12307A","ZNF880","chr19:52887246-52887247","c.413(E4)至c.414(E4):插入CAA","插入非移码","rs71836013",{"$nulls":4},0.04,0.37,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"ZNF880",1,210,"插入非移码",2232,"0.22=51/229","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12307A(99)v26453",191,63,0.33,"12307A","ZNF880","chr19:52887146-52887146","c.313(E4):缺失A","缺失移码","rs398101268",{"$nulls":4},0.044,0.37,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,8,0,"ZNF880",1,210,"缺失移码",2130,"0.31=69/222","位于基因组多拷贝区域+简单重复结构",400713,"19q13.41","NM_001145434.1"]
["12307A(99)v11896",4,4,1,"12307A","ZNF883","chr9:115760610","m.1169T>A(E5)","非编码区","rs11971",0.44,0.4,0.39,0.42,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF883",1,180,"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"]
["12307A(99)v11897",7,7,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ZNF883",1,180,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",169834,"9q32","NM_001101338.1"]
["12307A(99)v9932",31,31,1,"12307A","ZNF90","chr19:20230264","m.2040T>A(E4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF90",1,190,"非编码区",14200,"1.00=47/47","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138.1"]
["12307A(99)v9933",93,93,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ZNF90",1,190,"错义",12210,"0.99=154/155","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138.1"]
["12307A(99)v27303",151,68,0.45,"12307A","ZNF91","chr19:23545250","c.531A>G(E4)","p.177,T>T","rs1044095",0.38,0.19,0.2,0.19,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF91",1,120,"同义",13203,"0.43=118/273","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430.2"]
["12307A(99)v27304",47,26,0.55,"12307A","ZNF91","chr19:23542697","c.3084G>C(E4)","p.1028,G>G","rs1821845",0.43,0.21,0.22,0.2,0.19,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF91",1,120,"同义",13203,"0.55=42/76","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430.2"]
["12307A(99)v28662",27,14,0.52,"12307A","ZNF92","chr7:64864894","m.1883C>T(E3)","非编码区","rs7796776",0.14,0.18,0.19,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF92",1,190,"非编码区",14200,"0.51=19/37","位于基因组多拷贝区域+DNA结构正常",168374,"7q11.21","NM_007139.2"]
["12307A(99)v15028",94,53,0.56,"12307A","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%",{"$nulls":4},5,null,2,0,"ZNF93",1,200,"非编码区",14200,"0.57=94/166","位于基因组多拷贝区域+DNA结构正常",81931,"19p12","NM_031218.3"]
["12307A(99)v15029",157,70,0.45,"12307A","ZNF93","chr19:20044041","c.277G>T(E4)","p.93,D>Y","rs12151060",0.19,0.46,0.46,0.45,0.35,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF93",1,200,"错义",12210,"0.48=120/252","位于基因组多拷贝区域+DNA结构正常",81931,"19p12","NM_031218.3"]
["12307A(99)v23173",40,24,0.6,"12307A","ZNF98","chr19:22605120","m.29G>T(E1)","非编码区","rs11669356",0.34,0.44,0.47,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"非编码区",14200,"0.64=39/61","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12307A(99)v23174",48,29,0.6,"12307A","ZNF98","chr19:22605103","m.46G>C(E1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"非编码区",14200,"0.65=55/84","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12307A(99)v23175",125,70,0.56,"12307A","ZNF98","chr19:22575488","c.549C>T(E4)","p.183,K>K","rs7247735",0.4,0.46,0.49,0.42,0.46,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"同义",13203,"0.51=97/190","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12307A(99)v23176",126,58,0.46,"12307A","ZNF98","chr19:22574818","c.1219T>C(E4)","p.407,K>E","rs201005223",0.34,0.44,0.47,0.41,0.36,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"错义",12210,"0.42=98/235","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12307A(99)v23177",346,129,0.37,"12307A","ZNF98","chr19:22586192","c.153A>G(E2)","p.51,F>F","rs1368476",0.39,0.45,0.48,0.42,0.45,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"同义",13203,"0.32=196/608","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12307A(99)v12671",3,1,0.33,"12307A","ZNHIT1","chr7:100867382","m.1100G>T(E5)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNHIT1",1,53,"非编码区",14400,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",10467,"7q22.1","NM_006349.2"]
["12307A(99)v698",15,15,1,"12307A","ZNHIT2","chr11:64884052","c.1074G>A(E1)","p.358,A>A","rs1546532",0.89,0.9,0.91,0.9,0.84,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT2",0.78,5.8,"同义",13203,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",741,"11q13","NM_014205.2"]
["12307A(99)v15194",24,24,1,"12307A","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%",{"$nulls":4},5,null,1,0,"ZNHIT3",1,160,"非编码区",14200,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",9326,"17q12","NM_004773.2"]
["12307A(99)v17097",4,2,0.5,"12307A","ZNRF4","chr19:5455990","c.488G>A(E1)","p.163,R>H","rs17304380",0.19,0.4,0.37,0.42,0.34,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"错义",12210,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12307A(99)v17098",4,2,0.5,"12307A","ZNRF4","chr19:5455978","c.476T>C(E1)","p.159,V>A","rs8107825",0.54,0.76,0.75,0.77,0.61,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"错义",12220,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12307A(99)v17099",4,2,0.5,"12307A","ZNRF4","chr19:5455971","c.469G>T(E1)","p.157,A>S","rs8103406",0.54,0.76,0.75,0.77,0.6,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"错义",12220,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12307A(99)v17100",4,2,0.5,"12307A","ZNRF4","chr19:5455796","c.294A>G(E1)","p.98,A>A","rs420325",0.73,0.87,0.85,0.88,0.68,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"同义",13203,"0.33=3/9","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12307A(99)v17101",48,25,0.52,"12307A","ZNRF4","chr19:5456450","c.948T>C(E1)","p.316,Y>Y","rs8111108",0.7,0.87,0.84,0.89,0.86,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"同义",13203,"0.51=41/80","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12307A(99)v17102",12,4,0.33,"12307A","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%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"错义",12220,"0.31=5/16","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12307A(99)v28522",10,10,1,"12307A","ZP1","chr11:60635091","c.57T>C(E1)","p.19,V>V","rs550479",0.96,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,4,1,"ZP1",1,68,"同义",13203,"0.94=15/16","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12307A(99)v28523",23,1,0.04,"12307A","ZP1","chr11:60640646","c.1124G>A(E7)","p.375,R>H",{"$nulls":6},0,"杂合","可能相关","蛋白结构预测结果为有害",null,"卵母细胞成熟缺陷","AR",615774,2,3,4,1,"ZP1",1,68,"错义",12410,"0.11=4/36","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12307A(99)v28524",75,75,1,"12307A","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",615774,5,1,4,1,"ZP1",1,68,"同义",13203,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12307A(99)v28525",66,66,1,"12307A","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",615774,5,1,4,1,"ZP1",1,68,"同义",13203,"0.98=117/119","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12307A(99)v11844",104,104,1,"12307A","ZP2","chr16:21215672","c.747A>G(E8)","p.249,P>P","rs2075526",0.32,0.41,0.43,0.39,0.39,0.4,"纯合","无关","有rs号，MAF>=5%",19855393,{"$nulls":3},5,null,2,0,"ZP2",1,210,"同义",13203,"1.00=198/198","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460.1"]
["12307A(99)v11845",96,47,0.49,"12307A","ZP2","chr16:21213575","c.1137G>A(E11)","p.379,D>D","rs182866863",0.0006,0.0048,0.0095,0,0.013,0.0049,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZP2",1,210,"同义",13103,"0.49=79/160","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460.1"]
["12307A(99)v21967",95,22,0.23,"12307A","ZP3","chr7:76069937","IVS7+9C>T","非编码区","rs2906996",{"$nulls":5},0.3,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,2,0,"ZP3",1,170,"非编码区",16303,"0.23=34/149","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_001110354.1"]
["12307A(99)v21968",118,72,0.61,"12307A","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%",{"$nulls":4},5,null,2,0,"ZP3",1,170,"错义",12220,"0.59=108/182","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_001110354.1"]
["12307A(99)v14620",64,32,0.5,"12307A","ZP4","chr1:238051793","c.418T>C(E4)","p.140,T>A","rs141504911",0.0054,0.014,0.0048,0.024,0.031,0.03,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZP4",1,180,"错义",12120,"0.51=53/104","位于基因组单拷贝区域+DNA结构正常",57829,"1q43","NM_021186.3"]
["12307A(99)v14621",119,58,0.49,"12307A","ZP4","chr1:238050750","c.665G>T(E5)","p.222,A>E","rs140243550",3.8E-3,0.0072,0,0.015,0.025,0.023,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZP4",1,180,"错义",12120,"0.46=92/201","位于基因组单拷贝区域+DNA结构正常",57829,"1q43","NM_021186.3"]
["12307A(99)v15749",66,66,1,"12307A","ZPBP","chr7:50023122","IVS6-7C>T","剪切位点","rs988392",0.78,0.88,0.88,0.89,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZPBP",0.94,340,"剪切位点",16202,"1.00=111/111","位于基因组单拷贝区域+DNA结构正常",11055,"7p14.3","NM_001159878.1"]
["12307A(99)v4535",68,38,0.56,"12307A","ZPBP2","chr17:38024839","c.90C>T(E2)","p.30,G>G","rs75027016",0.033,0.099,0.09,0.11,0.12,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZPBP2",1,260,"同义",13103,"0.56=58/103","位于基因组单拷贝区域+DNA结构正常",124626,"17q12","NM_199321.2"]
["12307A(99)v28941",1,1,1,"12307A","ZRANB1","chr10:126674852","m.3789G>A(E9)","非编码区","rs11813829",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZRANB1",1,190,"非编码区",14300,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54764,"10q26.13","NM_017580.2"]
["12307A(99)v28942",197,197,1,"12307A","ZRANB1","chr10:126670356","c.1506G>A(E6)","p.502,Q>Q","rs17152433",0.26,0.2,0.2,0.21,0.23,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZRANB1",1,190,"同义",13203,"1.00=398/399","位于基因组单拷贝区域+DNA结构正常",54764,"10q26.13","NM_017580.2"]
["12307A(99)v21839",122,59,0.48,"12307A","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%",{"$nulls":4},5,null,1,0,"ZRANB2",1,320,"剪切位点",16202,"0.46=79/172","位于基因组单拷贝区域+DNA结构正常",9406,"1p31","NM_005455.4"]
["12307A(99)v4367",71,31,0.44,"12307A","ZRANB3","chr2:135988186","c.1851G>A(E13)","p.617,T>T","rs58917764",0.19,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"同义",13203,"0.50=61/122","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12307A(99)v4368",56,25,0.45,"12307A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"同义",13203,"0.41=38/92","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12307A(99)v4369",40,18,0.45,"12307A","ZRANB3","chr2:135988416","c.1621C>T(E13)","p.541,E>K","rs935615",0.27,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"错义",12220,"0.44=27/62","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12307A(99)v4370",91,43,0.47,"12307A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"错义",12220,"0.50=83/166","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12307A(99)v4371",81,41,0.51,"12307A","ZRANB3","chr2:135988127","c.1910T>A(E13)","p.637,E>V","rs59900519",0.28,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"错义",12220,"0.56=72/129","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12307A(99)v12828",259,125,0.48,"12307A","ZRSR2","chrX:15838366","c.864C>T(E10)","p.288,N>N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,270,"同义",13303,"0.50=246/492","位于基因组单拷贝区域+DNA结构正常",8233,"Xp22.1","NM_005089.3"]
["12307A(99)v21846",11,1,0.09,"12307A","ZSCAN1","chr19:58564834","c.642G>T(E6)","p.214,W>C",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ZSCAN1",1,22,"错义",12420,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572.3"]
["12307A(99)v21847",3,3,1,"12307A","ZSCAN1","chr19:58549366","c.162C>G(E3)","p.54,L>L","rs159870",0.64,0.47,0.41,0.54,0.37,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN1",1,22,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572.3"]
["12307A(99)v21848",7,4,0.57,"12307A","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%",{"$nulls":4},5,null,4,0,"ZSCAN1",1,22,"非编码区",14200,"0.54=7/13","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572.3"]
["12307A(99)v21849",3,1,0.33,"12307A","ZSCAN1","chr19:58549238","c.34A>C(E3)","p.12,R>R",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ZSCAN1",1,22,"同义",13403,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572.3"]
["12307A(99)v4922",1,1,1,"12307A","ZSCAN10","chr16:3139801","c.1469G>A(E5)","p.490,T>M",{"$nulls":6},0,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ZSCAN10",0.77,15,"错义",12410,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",84891,"16p13.3","NM_032805.1"]
["12307A(99)v4923",1,1,1,"12307A","ZSCAN10","chr16:3142702","c.72G>T(E1)","p.24,T>T",{"$nulls":7},"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZSCAN10",0.77,15,"同义",13403,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",84891,"16p13.3","NM_032805.1"]
["12307A(99)v1465",102,48,0.47,"12307A","ZSCAN12","chr6:28358335","c.1732G>C(E4)","p.578,R>G","rs1416918",0.39,0.25,0.2,0.3,0.24,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN12",1,130,"错义",12220,"0.47=82/173","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12307A(99)v1466",108,55,0.51,"12307A","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%",{"$nulls":4},5,null,3,0,"ZSCAN12",1,130,"错义",12210,"0.49=89/181","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12307A(99)v1467",98,48,0.49,"12307A","ZSCAN12","chr6:28359170","c.897A>G(E4)","p.299,D>D","rs2859348",0.64,0.58,0.58,0.59,0.62,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN12",1,130,"同义",13203,"0.52=77/148","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12307A(99)v12161",8,5,0.62,"12307A","ZSCAN18","chr19:58600048","IVS3+7C>T","非编码区","rs1529329",0.27,0.36,0.34,0.37,null,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN18",0.81,22,"非编码区",16203,"0.50=5/10","位于基因组单拷贝区域+DNA结构正常",65982,"19q13.43","NM_001145542.1"]
["12307A(99)v6417",81,81,1,"12307A","ZSCAN2","chr15:85163998","c.572G>C(E3)","p.191,S>T","rs2044502",0.88,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,100,"错义",12220,"1.00=117/117","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_181877.3"]
["12307A(99)v6418",134,134,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,100,"错义",12220,"1.00=285/285","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_017894.5"]
["12307A(99)v3666",32,32,1,"12307A","ZSCAN20","chr1:33961147","m.3370T>G(E8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN20",1,110,"非编码区",14200,"1.00=49/49","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12307A(99)v3667",161,161,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ZSCAN20",1,110,"同义",13203,"1.00=257/257","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12307A(99)v3668",51,50,0.98,"12307A","ZSCAN20","chr1:33957130","c.1272C>A(E6)","p.424,A>A","rs3795419",0.19,0.38,0.37,0.39,0.41,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZSCAN20",1,110,"同义",13203,"0.99=74/75","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12307A(99)v3669",53,53,1,"12307A","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%",{"$nulls":4},5,null,5,0,"ZSCAN20",1,110,"错义",12230,"1.00=80/80","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12307A(99)v3670",9,1,0.11,"12307A","ZSCAN20","chr1:33945269","c.380A>G(E2)","p.127,E>G",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ZSCAN20",1,110,"错义",12410,"0.17=2/12","位于基因组多拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12307A(99)v18504",32,13,0.41,"12307A","ZSCAN21","chr7:99654689","c.60G>A(E2)","p.20,Q>Q","rs11558476",0.31,0.49,0.5,0.48,0.47,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN21",1,120,"同义",13203,"0.39=17/44","位于基因组单拷贝区域+DNA结构正常",7589,"7q22.1","NM_145914.2"]
["12307A(99)v18505",29,11,0.38,"12307A","ZSCAN21","chr7:99654600","m.115A>G(E2)","非编码区","rs11558475",0.31,0.49,0.5,0.48,null,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN21",1,120,"非编码区",14200,"0.40=16/40","位于基因组单拷贝区域+DNA结构正常",7589,"7q22.1","NM_145914.2"]
["12307A(99)v5322",112,112,1,"12307A","ZSCAN29","chr15:43661802","c.310T>C(E1)","p.104,R>G","rs3809482",0.55,0.5,0.48,0.53,0.45,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN29",1,120,"错义",12220,"1.00=193/193","位于基因组单拷贝区域+DNA结构正常",146050,"15q15.3","NM_152455.3"]
["12307A(99)v16552",94,46,0.49,"12307A","ZSCAN4","chr19:58189287","c.402C>T(E4)","p.134,H>H","rs9676604",0.16,0.26,0.29,0.24,0.24,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN4",1,180,"同义",13203,"0.51=87/171","位于基因组单拷贝区域+DNA结构正常",201516,"19q13.43","NM_152677.2"]
["12307A(99)v2372",13,13,1,"12307A","ZSCAN5B","chr19:56703248","c.559G>A(E2)","p.187,P>S","rs527025",0.25,0.29,0.26,0.32,0.27,0.29,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN5B",1,110,"错义",12210,"1.00=19/19","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12307A(99)v2373",39,31,0.79,"12307A","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%",{"$nulls":4},5,null,2,0,"ZSCAN5B",1,110,"同义",13203,"0.75=42/56","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12307A(99)v14266",166,83,0.5,"12307A","ZSWIM2","chr2:187698751","c.750G>A(E6)","p.250,T>T","rs7559533",0.2,0.099,0.09,0.11,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM2",1,240,"同义",13203,"0.51=150/292","位于基因组单拷贝区域+DNA结构正常",151112,"2q32.1","NM_182521.2"]
["12307A(99)v3608",72,35,0.49,"12307A","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%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,76,"同义",13203,"0.47=54/115","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12307A(99)v3609",21,11,0.52,"12307A","ZSWIM3","chr20:44506661","c.1464G>A(E2)","p.488,P>P","rs17446462",0.088,0.089,0.086,0.092,0.041,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,76,"同义",13203,"0.50=14/28","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12307A(99)v3610",18,9,0.5,"12307A","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%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,76,"非编码区",14200,"0.45=13/29","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12307A(99)v3611",44,21,0.48,"12307A","ZSWIM3","chr20:44505973","c.776T>C(E2)","p.259,V>A","rs2903808",0.56,0.55,0.55,0.56,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,76,"错义",12220,"0.47=30/64","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12307A(99)v6982",1,1,1,"12307A","ZSWIM5","chr1:45482887","m.5025C>T(E14)","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,2,0,"ZSWIM5",0.95,96,"非编码区",14400,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",57643,"1p34.1","NM_020883.1"]
["12307A(99)v6983",2,1,0.5,"12307A","ZSWIM5","chr1:45671663","c.360G>A(E1)","p.120,G>G",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZSWIM5",0.95,96,"同义",13403,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",57643,"1p34.1","NM_020883.1"]
["12307A(99)v21510",83,82,0.99,"12307A","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",0.9,150,"同义",13203,"0.99=142/143","位于基因组单拷贝区域+DNA结构正常",57688,"5q12.1","NM_020928.1"]
["12307A(99)v11861",195,102,0.52,"12307A","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%",{"$nulls":4},5,null,2,0,"ZUFSP",1,280,"错义",12220,"0.49=161/327","位于基因组单拷贝区域+DNA结构正常",221302,"6q22.1","NM_145062.2"]
["12307A(99)v11862",138,74,0.54,"12307A","ZUFSP","chr6:116966901","c.1665A>C(E9)","p.555,G>G","rs374689423",0.0004,0,0,0,null,0.00081,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZUFSP",1,280,"同义",13103,"0.57=126/222","位于基因组单拷贝区域+DNA结构正常",221302,"6q22.1","NM_145062.2"]
["12307A(99)v28608",167,86,0.51,"12307A","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",{"$nulls":4},4,null,1,0,"ZW10",1,220,"同义",13103,"0.48=151/313","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724.3"]
["12307A(99)v28485",149,74,0.5,"12307A","ZWILCH","chr15:66821250","c.1030A>G(E11)","p.344,S>G","rs11071896",0.18,0.14,0.17,0.12,0.14,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZWILCH",1,310,"错义",12220,"0.47=127/273","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975.3"]
["12307A(99)v25512",75,75,1,"12307A","ZWINT","chr10:58118630","c.559T>C(E6)","p.187,R>G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,1,0,"ZWINT",1,94,"错义",12210,"1.00=132/132","位于基因组单拷贝区域+DNA结构正常",11130,"10q21-q22","NM_007057.3"]
["12307A(99)v15446",107,107,1,"12307A","ZXDB","chrX:57619648","c.1167G>T(E1)","p.389,P>P","rs1057328",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZXDB",0.72,110,"同义",13303,"0.99=192/193","位于基因组多拷贝区域+DNA结构正常",158586,"Xp11.21","NM_007157.3"]
["12307A(99)v25530",23,23,1,"12307A","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%",{"$nulls":4},5,null,2,0,"ZXDC",0.79,61,"剪切位点",16202,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_001040653.2"]
["12307A(99)v25531",2,1,0.5,"12307A","ZXDC","chr3:126172795","m.9764C>A(E6)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZXDC",0.79,61,"非编码区",14400,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_001040653.2"]
["12307A(99)v12395",110,55,0.5,"12307A","ZYG11A","chr1:53320274","c.228G>T(E2)","p.76,E>D","rs480299",0.59,0.25,0.23,0.28,0.28,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZYG11A",1,190,"错义",12220,"0.48=88/185","位于基因组单拷贝区域+DNA结构正常",440590,"1p32.3","NM_001004339.2"]
["12307A(99)v30008",80,80,1,"12307A","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%",{"$nulls":4},5,null,1,0,"ZYG11B",1,210,"同义",13203,"0.97=144/148","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646.2"]
["12307A(99)v24498",62,27,0.44,"12307A","ZZEF1","chr17:3921203","c.7568G>C(E47)","p.2523,P>R","rs142933706",2.8E-3,0.012,0.014,0.0097,0.019,0.019,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,10,0,"ZZEF1",0.98,140,"错义",12110,"0.37=38/103","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24499",45,45,1,"12307A","ZZEF1","chr17:3981290","c.2876A>G(E19)","p.959,V>A","rs78806449",0.081,0.07,0.062,0.078,0.08,0.075,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.98,140,"错义",12220,"1.00=76/76","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24500",70,70,1,"12307A","ZZEF1","chr17:3916823","c.8499G>A(E52)","p.2833,G>G","rs8075562",0.2,0.07,0.062,0.078,0.085,0.076,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.98,140,"同义",13203,"0.99=129/130","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24501",82,82,1,"12307A","ZZEF1","chr17:3953102","c.5915A>G(E37)","p.1972,L>P","rs781852",0.48,0.22,0.19,0.25,0.25,0.26,"纯合","无关","有rs号，MAF>=5%",17134496,{"$nulls":3},5,null,10,0,"ZZEF1",0.98,140,"错义",12220,"1.00=135/135","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24502",80,79,0.99,"12307A","ZZEF1","chr17:3926110","c.7105C>G(E44)","p.2369,E>Q","rs711177",0.14,0.07,0.062,0.078,0.087,0.078,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.98,140,"错义",12220,"0.98=125/128","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24503",87,87,1,"12307A","ZZEF1","chr17:3953083","c.5934T>C(E37)","p.1978,P>P","rs781853",0.46,0.22,0.18,0.25,0.24,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.98,140,"同义",13203,"1.00=142/142","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24504",49,47,0.96,"12307A","ZZEF1","chr17:4015997","c.972A>G(E5)","p.324,N>N","rs58625333",0.27,0.22,0.18,0.26,0.24,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.98,140,"同义",13203,"0.97=75/77","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24505",169,168,0.99,"12307A","ZZEF1","chr17:3947644","c.6040T>C(E38)","p.2014,I>V","rs781831",0.52,0.33,0.32,0.33,0.34,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.98,140,"错义",12220,"0.99=306/308","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24506",66,65,0.98,"12307A","ZZEF1","chr17:3966064","c.4866A>G(E30)","p.1622,C>C","rs781825",0.47,0.22,0.19,0.25,0.26,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.98,140,"同义",13203,"0.99=117/118","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12307A(99)v24507",1,1,1,"12307A","ZZEF1","chr17:3909404","m.9730C>A(E55)","非编码区","rs1052617",0.47,0.19,0.17,0.21,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.98,140,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]

{"sheet":"Result","index":1,"n_rows":31594,"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(12307n1A_99)","突变深度A(12307n1A_99)","突变率A(12307n1A_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(12307n1A_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"]
["12307A(99)v6658",13,12,0.92,{"$nulls":3},"A有","12307A","A1BG","chr19:58858232-58858232","m.1706(E8):缺失C","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"A1BG",0.89,11,"非编码区",2420,"0.92=12/13",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"]
["12307A(99)v6657",10,10,1,{"$nulls":3},"A有","12307A","A1BG","chr19:58864479","c.155T>C(E3)","p.52,H>R","rs893184",0.85,0.92,0.94,0.89,0.82,0.91,"纯合","无关","有rs号，MAF>=5%",23690342,{"$nulls":3},5,null,2,0,"A1BG",0.89,11,"错义",12220,"1.00=15/15",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"]
["12307A(99)v8389",122,46,0.38,{"$nulls":3},"A有","12307A","A1CF","chr10:52566594","c.1656G>C(E14)","p.552,L>L","rs34190540",0.042,0.12,0.11,0.14,0.11,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"A1CF",1,250,"同义",13103,"0.40=90/223",null,29974,"10q11.23","NM_001198818.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16247",102,102,1,{"$nulls":3},"A有","12307A","A2M","chr12:9248233","c.1915T>C(E16)","p.639,N>D","rs226405",null,1,1,1,0.97,1,"纯合","未知","未知",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,1,2,"A2M",1,240,"错义",12330,"1.00=194/194",null,2,"12p13.31","NM_000014.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16247",102,102,1,{"$nulls":3},"A有","12307A","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",1,240,"错义",12330,"1.00=194/194",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"]
["12307A(99)v24270",128,128,1,{"$nulls":3},"A有","12307A","A2ML1","chr12:9004512","c.2367G>A(E19)","p.789,P>P","rs1860927",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"A2ML1",1,180,"同义",13303,"1.00=235/235",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"]
["12307A(99)v24273",91,91,1,{"$nulls":3},"A有","12307A","A2ML1","chr12:9004892","c.2550C>A(E20)","p.850,D>E","rs1860926",null,1,1,1,0.99,1,"纯合","未知","未知",{"$nulls":4},3,null,5,0,"A2ML1",1,180,"错义",12330,"1.00=150/150",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"]
["12307A(99)v24269",152,152,1,{"$nulls":3},"A有","12307A","A2ML1","chr12:9013755","c.3364C>T(E28)","p.1122,R>W","rs1860967",null,0.83,0.83,0.83,0.77,0.78,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"A2ML1",1,180,"错义",12320,"1.00=272/273",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"]
["12307A(99)v24271",46,46,1,{"$nulls":3},"A有","12307A","A2ML1","chr12:9016573","c.3686A>G(E29)","p.1229,H>R","rs10219561",null,1,1,1,0.96,1,"纯合","未知","未知",{"$nulls":4},3,null,5,0,"A2ML1",1,180,"错义",12330,"1.00=81/81",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"]
["12307A(99)v24272",61,61,1,{"$nulls":3},"A有","12307A","A2ML1","chr12:9020489","c.3769A>G(E30)","p.1257,M>V","rs7308811",null,1,1,1,0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"A2ML1",1,180,"错义",12320,"0.99=108/109",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"]
["12307A(99)v16530",11,5,0.45,{"$nulls":3},"A有","12307A","A4GALT","chr22:43088971","c.987C>T(E3)","p.329,T>T","rs9623659",0.35,0.14,0.16,0.12,0.15,0.15,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,3,1,"A4GALT",1,24,"同义",13203,"0.50=7/14",null,53947,"22q13.2","NM_017436.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16528",29,29,1,{"$nulls":3},"A有","12307A","A4GALT","chr22:43089055","c.903G>C(E3)","p.301,P>P","rs6002904",0.7,0.68,0.69,0.67,0.65,0.72,"纯合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,1,3,1,"A4GALT",1,24,"同义",13203,"1.00=49/49",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"]
["12307A(99)v16529",7,4,0.57,{"$nulls":3},"A有","12307A","A4GALT","chr22:43089849","c.109T>C(E3)","p.37,M>V","rs11541159",0.35,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,3,1,"A4GALT",1,24,"错义",12220,"0.64=7/11",null,53947,"22q13.2","NM_017436.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27",7,4,0.57,{"$nulls":3},"A有","12307A","A4GNT","chr3:137843018","m.1313G>C(E3)","非编码区","rs1564496",null,0.69,0.68,0.71,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A4GNT",1,130,"非编码区",14300,"0.57=4/7",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29",39,22,0.56,{"$nulls":3},"A有","12307A","A4GNT","chr3:137843106","c.1023T>C(E3)","p.341,X>X","rs2170309",0.65,0.69,0.68,0.71,0.67,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,130,"同义",13203,"0.49=29/59",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30",87,40,0.46,{"$nulls":3},"A有","12307A","A4GNT","chr3:137843476","c.653G>T(E3)","p.218,A>D","rs2246945",0.65,0.69,0.68,0.71,0.68,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,130,"错义",12220,"0.47=68/146",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28",58,32,0.55,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"A4GNT",1,130,"同义",13203,"0.51=44/86",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18056",48,48,1,{"$nulls":3},"A有","12307A","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",1,100,"同义",13203,"1.00=78/78",null,8086,"12q13","NM_001173466.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5",19,8,0.42,{"$nulls":3},"A有","12307A","AACS","chr12:125621419","IVS17+9A>G","非编码区","rs41473449",0.37,0.55,0.57,0.53,null,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AACS",1,120,"非编码区",16203,"0.43=10/23",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"]
["12307A(99)v28009",72,42,0.58,{"$nulls":3},"A有","12307A","AADAC","chr3:151545601","c.841G>A(E5)","p.281,V>I","rs1803155",0.73,0.58,0.53,0.63,0.59,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AADAC",1,180,"错义",12220,"0.58=66/113",null,13,"3q25.1","NM_001086.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12306",132,132,1,{"$nulls":3},"A有","12307A","AADACL2","chr3:151463421","c.556G>T(E4)","p.186,A>S","rs1972977",0.71,0.62,0.68,0.57,0.61,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AADACL2",1,220,"错义",12220,"0.99=217/219",null,344752,"3q25.1","NM_207365.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6396",11,5,0.45,{"$nulls":3},"A有","12307A","AADACL3","chr1:12776134","m.17C>A(E1)","非编码区","rs3010874",0.71,0.66,0.69,0.63,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AADACL3",1,160,"非编码区",14200,"0.46=6/13",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"]
["12307A(99)v6390",16,8,0.5,{"$nulls":3},"A有","12307A","AADACL3","chr1:12776161","m.44G>A(E1)","非编码区","rs80277373",0.03,0.043,0.043,0.044,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,12,0,"AADACL3",1,160,"非编码区",14100,"0.50=9/18",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"]
["12307A(99)v6398",52,52,1,{"$nulls":3},"A有","12307A","AADACL3","chr1:12776218","m.101A>C(E1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AADACL3",1,160,"非编码区",14200,"1.00=77/77",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"]
["12307A(99)v6393",93,48,0.52,{"$nulls":3},"A有","12307A","AADACL3","chr1:12776344","c.1A>T(E1)","p.1,M>L","rs3000859",0.66,0.66,0.69,0.63,0.63,0.64,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,12,0,"AADACL3",1,160,"错义",18220,"0.53=77/145",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"]
["12307A(99)v6395",94,94,1,{"$nulls":3},"A有","12307A","AADACL3","chr1:12779560","c.81T>C(E2)","p.27,D>D","rs3010876",0.85,0.79,0.8,0.79,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AADACL3",1,160,"同义",13203,"0.99=161/163",null,126767,"1p36.21","NM_001103170.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6399",97,97,1,{"$nulls":3},"A有","12307A","AADACL3","chr1:12779563","c.84C>T(E2)","p.28,P>P","rs78912772",0.028,0.055,0.062,0.049,0.049,0.044,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"AADACL3",1,160,"同义",13103,"0.99=166/167",null,126767,"1p36.21","NM_001103170.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6389",97,97,1,{"$nulls":3},"A有","12307A","AADACL3","chr1:12779618","c.139T>C(E2)","p.47,S>P","rs3010877",0.85,0.8,0.8,0.79,0.81,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AADACL3",1,160,"错义",12220,"0.99=161/163",null,126767,"1p36.21","NM_001103170.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6400",128,127,0.99,{"$nulls":3},"A有","12307A","AADACL3","chr1:12785295","c.175C>T(E3)","p.59,R>W","rs17038445",0.014,0.046,0.052,0.039,0.046,0.048,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,12,0,"AADACL3",1,160,"错义",12110,"0.98=226/230",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"]
["12307A(99)v6394",117,117,1,{"$nulls":3},"A有","12307A","AADACL3","chr1:12785494","c.374G>T(E3)","p.125,C>F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AADACL3",1,160,"错义",12210,"0.99=199/201",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"]
["12307A(99)v6401",8,8,1,{"$nulls":3},"A有","12307A","AADACL3","chr1:12786070","m.1176A>G(E3)","非编码区","rs3000930",0.76,0.79,0.8,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AADACL3",1,160,"非编码区",14200,"1.00=8/8",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"]
["12307A(99)v6392",2,2,1,{"$nulls":3},"A有","12307A","AADACL3","chr1:12788406","m.3512G>A(E3)","非编码区","rs3000929",0.83,0.79,0.8,0.79,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AADACL3",1,160,"非编码区",14200,"1.00=8/8",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"]
["12307A(99)v6391",2,2,1,{"$nulls":3},"A有","12307A","AADACL3","chr1:12788411","m.3517C>T(E3)","非编码区","rs59335617",0.03,0.053,0.057,0.049,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,12,0,"AADACL3",1,160,"非编码区",14100,"1.00=8/8",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"]
["12307A(99)v29558",170,169,0.99,{"$nulls":3},"A有","12307A","AADAT","chr4:170987636","IVS9-7A>G","剪切位点","rs1480544",0.74,1,1,1,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AADAT",1,310,"剪切位点",16202,"1.00=288/289",null,51166,"4q33","NM_016228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29559",241,70,0.29,{"$nulls":3},"A有","12307A","AADAT","chr4:170991812-170991815","IVS5-9至IVS5-12:缺失GGTT","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"AADAT",1,310,"非编码区",2500,"0.29=82/281",null,51166,"4q33","NM_016228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30740",4,4,1,{"$nulls":3},"A有","12307A","AAGAB","chr15:67494922","m.1290T>C(E10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,2,1,"AAGAB",1,290,"非编码区",14200,"1.00=4/4",null,79719,"15q22.33-q23","NM_024666.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30738",193,192,0.99,{"$nulls":3},"A有","12307A","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",148600,5,1,2,1,"AAGAB",1,290,"错义",12220,"0.99=354/356",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"]
["12307A(99)v19782",6,6,1,{"$nulls":3},"A有","12307A","AAK1","chr2:69741609","c.1770C>T(E13)","p.590,E>E","rs2276689",0.32,0.52,0.53,0.51,0.45,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAK1",1,190,"同义",13203,"1.00=8/8",null,22848,"2p14","NM_014911.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19781",65,65,1,{"$nulls":3},"A有","12307A","AAK1","chr2:69741854","c.1525T>G(E13)","p.509,K>Q","rs6715776",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAK1",1,190,"错义",12230,"1.00=122/122",null,22848,"2p14","NM_014911.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30200",7,7,1,{"$nulls":3},"A有","12307A","AAMP","chr2:219129060","m.1585A>G(E11)","非编码区","rs2382816",0.96,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AAMP",1,62,"非编码区",14200,"1.00=7/7",null,14,"2q35","NM_001087.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8418",48,22,0.46,{"$nulls":3},"A有","12307A","AARD","chr8:117955005","m.552C>T(E2)","非编码区","rs4629901",0.22,0.34,0.33,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AARD",0.91,92,"非编码区",14200,"0.49=33/68",null,441376,"8q24.11","NM_001025357.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23817",37,37,1,{"$nulls":3},"A有","12307A","AARS","chr16:70287177","c.2715A>G(E20)","p.905,V>V","rs4081753",0.88,0.96,0.97,0.95,0.94,0.97,"纯合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,150,"同义",13203,"1.00=69/69",null,16,"16q22","NM_001605.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23818",36,18,0.5,{"$nulls":3},"A有","12307A","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",1,150,"同义",13203,"0.53=35/66",null,16,"16q22","NM_001605.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13991",2,2,1,{"$nulls":3},"A有","12307A","AARS2","chr6:44268135","m.3110C>T(E22)","非编码区","rs325009",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,5,2,"AARS2",1,59,"非编码区",14200,"1.00=3/3",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13991",2,2,1,{"$nulls":3},"A有","12307A","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",615889,5,1,5,2,"AARS2",1,59,"非编码区",14200,"1.00=3/3",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"]
["12307A(99)v13990",12,12,1,{"$nulls":3},"A有","12307A","AARS2","chr6:44268371","c.2871T>C(E22)","p.957,S>S","rs325008",null,1,1,1,0.92,1,"纯合","未知","预测范围之外的同义突变",null,"联合氧化磷酸化缺陷8型","AR",614096,4,1,5,2,"AARS2",1,59,"同义",13303,"1.00=18/18",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13990",12,12,1,{"$nulls":3},"A有","12307A","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",615889,4,1,5,2,"AARS2",1,59,"同义",13303,"1.00=18/18",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"]
["12307A(99)v13993",23,11,0.48,{"$nulls":3},"A有","12307A","AARS2","chr6:44269193","c.2607C>T(E20)","p.869,K>K","rs498512",0.58,0.44,0.46,0.43,0.42,0.42,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,5,2,"AARS2",1,59,"同义",13203,"0.44=16/36",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13993",23,11,0.48,{"$nulls":3},"A有","12307A","AARS2","chr6:44269193","c.2607C>T(E20)","p.869,K>K","rs498512",0.58,0.44,0.46,0.43,0.42,0.42,"杂合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,5,2,"AARS2",1,59,"同义",13203,"0.44=16/36",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"]
["12307A(99)v13994",19,19,1,{"$nulls":3},"A有","12307A","AARS2","chr6:44275011","c.1015T>C(E6)","p.339,I>V","rs324136",0.89,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,5,2,"AARS2",1,59,"错义",12230,"1.00=27/27",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13994",19,19,1,{"$nulls":3},"A有","12307A","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",615889,5,1,5,2,"AARS2",1,59,"错义",12230,"1.00=27/27",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"]
["12307A(99)v13988",13,5,0.38,{"$nulls":3},"A有","12307A","AARS2","chr6:44280812","IVS1+6C>T","剪切位点","rs167772",0.45,0.43,0.44,0.42,0.31,0.39,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,5,2,"AARS2",1,59,"剪切位点",16202,"0.36=9/25",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13988",13,5,0.38,{"$nulls":3},"A有","12307A","AARS2","chr6:44280812","IVS1+6C>T","剪切位点","rs167772",0.45,0.43,0.44,0.42,0.31,0.39,"杂合","无关","有rs号，MAF>=5%",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,5,2,"AARS2",1,59,"剪切位点",16202,"0.36=9/25",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"]
["12307A(99)v6253",79,79,1,{"$nulls":3},"A有","12307A","AARSD1","chr17:41116234","c.60G>A(E2)","p.20,S>S","rs690941",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AARSD1",1,170,"同义",13203,"1.00=117/117",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"]
["12307A(99)v12255",95,50,0.53,{"$nulls":3},"A有","12307A","AASDH","chr4:57204777","c.3088A>C(E15)","p.1030,Y>D","rs8340",0.23,0.19,0.17,0.2,0.14,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.55=99/181",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12256",155,65,0.42,{"$nulls":3},"A有","12307A","AASDH","chr4:57211352","c.2593T>C(E12)","p.865,T>A","rs12498340",0.22,0.19,0.17,0.2,0.16,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.47=136/288",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12254",129,51,0.4,{"$nulls":3},"A有","12307A","AASDH","chr4:57219592","c.1554G>A(E9)","p.518,D>D","rs6554348",0.65,0.54,0.53,0.55,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"同义",13203,"0.42=105/249",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12252",147,57,0.39,{"$nulls":3},"A有","12307A","AASDH","chr4:57219613","c.1533C>T(E9)","p.511,P>P","rs17086696",0.23,0.19,0.17,0.21,0.13,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"同义",13203,"0.41=114/275",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12253",92,48,0.52,{"$nulls":3},"A有","12307A","AASDH","chr4:57221348","c.1103T>C(E6)","p.368,K>R","rs3796543",0.065,0.18,0.21,0.16,0.2,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.50=69/139",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12251",120,50,0.42,{"$nulls":3},"A有","12307A","AASDH","chr4:57248716","c.278G>C(E3)","p.93,P>R","rs34228795",0.065,0.18,0.21,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12210,"0.38=86/228",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12257",165,69,0.42,{"$nulls":3},"A有","12307A","AASDH","chr4:57250285","c.181T>C(E2)","p.61,I>V","rs34543011",0.065,0.18,0.21,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.43=133/312",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21568",58,32,0.55,{"$nulls":3},"A有","12307A","AATF","chr17:35346641","c.1245T>C(E7)","p.415,S>S","rs1045056",0.16,0.017,0.0048,0.029,0.026,0.039,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AATF",0.95,240,"同义",13203,"0.56=52/93",null,26574,"17q12","NM_012138.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24086",2,2,1,{"$nulls":3},"A有","12307A","AATK","chr17:79095144","c.2592G>A(E11)","p.864,A>A","rs8073904",0.81,0.86,0.87,0.85,0.71,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AATK",0.65,4.6,"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"]
["12307A(99)v30492",90,39,0.43,{"$nulls":3},"A有","12307A","ABAT","chr16:8839954","c.167A>G(E3)","p.56,Q>R","rs1731017",0.5,0.6,0.57,0.63,0.58,0.59,"杂合","无关","有rs号，MAF>=5%",15830322,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,150,"错义",12220,"0.40=63/156",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30491",186,86,0.46,{"$nulls":3},"A有","12307A","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",1,150,"剪切位点",16202,"0.46=154/336",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"]
["12307A(99)v30490",21,11,0.52,{"$nulls":3},"A有","12307A","ABAT","chr16:8868776","c.984C>A(E13)","p.328,V>V","rs1641022",0.32,0.44,0.42,0.47,0.41,0.4,"杂合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,3,4,1,"ABAT",1,150,"同义",13203,"0.51=18/35",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30493",54,28,0.52,{"$nulls":3},"A有","12307A","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",1,150,"非编码区",16203,"0.50=49/98",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"]
["12307A(99)v28222",183,93,0.51,{"$nulls":3},"A有","12307A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","家族性高胆固醇血症","AD",143890,5,1,4,3,"ABCA1",1,180,"错义",12220,"0.49=153/313",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28222",183,93,0.51,{"$nulls":3},"A有","12307A","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",205400,5,3,4,3,"ABCA1",1,180,"错义",12220,"0.49=153/313",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"]
["12307A(99)v28222",183,93,0.51,{"$nulls":3},"A有","12307A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","原发性α低脂蛋白血症",null,604091,5,2,4,3,"ABCA1",1,180,"错义",12220,"0.49=153/313",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28223",70,32,0.46,{"$nulls":3},"A有","12307A","ABCA1","chr9:107564328","IVS34+7A>G","非编码区","rs41415046",0.004,0.026,0.024,0.029,null,0.018,"杂合","未知","内含子突变可能影响调控",null,"家族性高胆固醇血症","AD",143890,4,1,4,3,"ABCA1",1,180,"非编码区",16103,"0.46=54/118",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"]
["12307A(99)v28223",70,32,0.46,{"$nulls":3},"A有","12307A","ABCA1","chr9:107564328","IVS34+7A>G","非编码区","rs41415046",0.004,0.026,0.024,0.029,null,0.018,"杂合","未知","内含子突变可能影响调控",null,"丹吉尔病","AR",205400,4,3,4,3,"ABCA1",1,180,"非编码区",16103,"0.46=54/118",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28223",70,32,0.46,{"$nulls":3},"A有","12307A","ABCA1","chr9:107564328","IVS34+7A>G","非编码区","rs41415046",0.004,0.026,0.024,0.029,null,0.018,"杂合","未知","内含子突变可能影响调控",null,"原发性α低脂蛋白血症",null,604091,4,2,4,3,"ABCA1",1,180,"非编码区",16103,"0.46=54/118",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"]
["12307A(99)v28221",47,23,0.49,{"$nulls":3},"A有","12307A","ABCA1","chr9:107665978","m.387C>G(E2)","非编码区","rs1800978",0.14,0.17,0.2,0.14,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,4,3,"ABCA1",1,180,"非编码区",14200,"0.49=36/74",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28221",47,23,0.49,{"$nulls":3},"A有","12307A","ABCA1","chr9:107665978","m.387C>G(E2)","非编码区","rs1800978",0.14,0.17,0.2,0.14,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,3,4,3,"ABCA1",1,180,"非编码区",14200,"0.49=36/74",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"]
["12307A(99)v28221",47,23,0.49,{"$nulls":3},"A有","12307A","ABCA1","chr9:107665978","m.387C>G(E2)","非编码区","rs1800978",0.14,0.17,0.2,0.14,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",null,"原发性α低脂蛋白血症",null,604091,5,2,4,3,"ABCA1",1,180,"非编码区",14200,"0.49=36/74",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28224",25,9,0.36,{"$nulls":3},"A有","12307A","ABCA1","chr9:107666035-107666036","m.330(E2)至m.329(E2):插入C","非编码区","rs1799777",0.14,0.17,0.2,0.14,0.075,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"家族性高胆固醇血症","AD",143890,4,1,4,3,"ABCA1",1,180,"非编码区",2420,"0.35=9/26",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"]
["12307A(99)v28224",25,9,0.36,{"$nulls":3},"A有","12307A","ABCA1","chr9:107666035-107666036","m.330(E2)至m.329(E2):插入C","非编码区","rs1799777",0.14,0.17,0.2,0.14,0.075,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"丹吉尔病","AR",205400,4,3,4,3,"ABCA1",1,180,"非编码区",2420,"0.35=9/26",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28224",25,9,0.36,{"$nulls":3},"A有","12307A","ABCA1","chr9:107666035-107666036","m.330(E2)至m.329(E2):插入C","非编码区","rs1799777",0.14,0.17,0.2,0.14,0.075,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"原发性α低脂蛋白血症",null,604091,4,2,4,3,"ABCA1",1,180,"非编码区",2420,"0.35=9/26",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"]
["12307A(99)v26039",4,2,0.5,{"$nulls":3},"A有","12307A","ABCA10","chr17:67144684","m.5795T>A(E40)","非编码区","rs1974577",0.71,0.47,0.51,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA10",1,300,"非编码区",14200,"0.50=2/4",null,10349,"17q24","NM_080282.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26041",107,55,0.51,{"$nulls":3},"A有","12307A","ABCA10","chr17:67144884","m.5595G>T(E40)","非编码区","rs1974578",0.49,0.32,0.38,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA10",1,300,"非编码区",14200,"0.52=91/175",null,10349,"17q24","NM_080282.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26042",204,98,0.48,{"$nulls":3},"A有","12307A","ABCA10","chr17:67178316","c.2747A>G(E23)","p.916,M>T","rs4968849",0.71,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA10",1,300,"错义",12220,"0.47=174/367",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26040",72,31,0.43,{"$nulls":3},"A有","12307A","ABCA10","chr17:67178954","IVS21-5C>T","剪切位点","rs4968851",0.69,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA10",1,300,"剪切位点",16202,"0.38=42/111",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25593",83,43,0.52,{"$nulls":3},"A有","12307A","ABCA12","chr2:215797332","m.7019C>T(E45)","非编码区","rs17426207",0.4,0.34,0.31,0.36,null,0.36,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,5,2,"ABCA12",1,290,"非编码区",14200,"0.53=61/116",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25593",83,43,0.52,{"$nulls":3},"A有","12307A","ABCA12","chr2:215797332","m.7019C>T(E45)","非编码区","rs17426207",0.4,0.34,0.31,0.36,null,0.36,"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",601277,5,3,5,2,"ABCA12",1,290,"非编码区",14200,"0.53=61/116",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25591",90,90,1,{"$nulls":3},"A有","12307A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,1,5,2,"ABCA12",1,290,"同义",13203,"0.99=147/148",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25591",90,90,1,{"$nulls":3},"A有","12307A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"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",601277,5,1,5,2,"ABCA12",1,290,"同义",13203,"0.99=147/148",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25590",74,74,1,{"$nulls":3},"A有","12307A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,1,5,2,"ABCA12",1,290,"错义",12220,"1.00=126/126",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25590",74,74,1,{"$nulls":3},"A有","12307A","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",601277,5,1,5,2,"ABCA12",1,290,"错义",12220,"1.00=126/126",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25592",269,267,0.99,{"$nulls":3},"A有","12307A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,1,5,2,"ABCA12",1,290,"同义",13203,"0.99=491/496",null,26154,"2q34","NM_173076.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25592",269,267,0.99,{"$nulls":3},"A有","12307A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"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",601277,5,1,5,2,"ABCA12",1,290,"同义",13203,"0.99=491/496",null,26154,"2q34","NM_173076.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25595",37,23,0.62,{"$nulls":3},"A有","12307A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,5,2,"ABCA12",1,290,"非编码区",2600,"0.63=24/38",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25595",37,23,0.62,{"$nulls":3},"A有","12307A","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",601277,5,3,5,2,"ABCA12",1,290,"非编码区",2600,"0.63=24/38",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19932",120,58,0.48,{"$nulls":3},"A有","12307A","ABCA13","chr7:48237824","IVS2-10C>T","剪切位点","rs17060",0.22,0.31,0.31,0.3,null,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"剪切位点",16202,"0.52=113/218",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"]
["12307A(99)v19927",130,60,0.46,{"$nulls":3},"A有","12307A","ABCA13","chr7:48285485","c.1517C>T(E13)","p.506,P>L","rs1880738",0.41,0.58,0.64,0.52,0.54,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12220,"0.45=99/220",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"]
["12307A(99)v19930",103,51,0.5,{"$nulls":3},"A有","12307A","ABCA13","chr7:48312674","c.3411G>A(E17)","p.1137,V>V","rs1358066",0.58,0.74,0.8,0.67,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"同义",13203,"0.50=82/164",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"]
["12307A(99)v19924",73,34,0.47,{"$nulls":3},"A有","12307A","ABCA13","chr7:48313510","c.4247A>G(E17)","p.1416,H>R","rs17547830",0.19,0.014,0.0095,0.019,0.0069,0.012,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12210,"0.46=56/122",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"]
["12307A(99)v19931",46,23,0.5,{"$nulls":3},"A有","12307A","ABCA13","chr7:48314798","c.5535G>T(E17)","p.1845,G>G","rs13233225",0.22,0.012,0.0048,0.019,0.008,0.012,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"同义",13203,"0.53=35/66",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"]
["12307A(99)v19933",83,34,0.41,{"$nulls":3},"A有","12307A","ABCA13","chr7:48315796","c.6533C>A(E17)","p.2178,A>E","rs1880736",0.81,0.99,1,0.98,0.98,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12220,"0.39=50/128",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"]
["12307A(99)v19929",51,30,0.59,{"$nulls":3},"A有","12307A","ABCA13","chr7:48317683","IVS17-8A>T","剪切位点","rs10246853",0.21,0.012,0.0048,0.019,null,0.036,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"剪切位点",16202,"0.63=52/83",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"]
["12307A(99)v19923",98,51,0.52,{"$nulls":3},"A有","12307A","ABCA13","chr7:48318811","c.8020C>T(E18)","p.2674,R>W","rs2222648",0.85,0.99,1,0.98,0.96,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12220,"0.48=79/166",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"]
["12307A(99)v19926",129,57,0.44,{"$nulls":3},"A有","12307A","ABCA13","chr7:48319299","c.8508A>G(E18)","p.2836,E>E",{"$nulls":6},0.00023,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ABCA13",1,190,"同义",13403,"0.43=91/211",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19922",216,91,0.42,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"同义",13203,"0.42=169/407",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19934",54,28,0.52,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"剪切位点",16202,"0.52=43/83",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19928",70,70,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,13,0,"ABCA13",1,190,"错义",12220,"1.00=140/140",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19925",60,30,0.5,{"$nulls":3},"A有","12307A","ABCA13","chr7:48685219","m.15312C>T(E62)","非编码区","rs376098156",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,13,0,"ABCA13",1,190,"非编码区",14300,"0.51=42/82",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"]
["12307A(99)v11330",2,2,1,{"$nulls":3},"A有","12307A","ABCA2","chr9:139902214","m.7626A>G(E49)","非编码区","rs10870161",0.93,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA2",0.95,16,"非编码区",14200,"1.00=3/3",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11335",14,14,1,{"$nulls":3},"A有","12307A","ABCA2","chr9:139904037","c.6690A>G(E44)","p.2230,L>L","rs7048567",0.72,0.83,0.83,0.84,0.81,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA2",0.95,16,"同义",13203,"1.00=27/27",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11334",10,10,1,{"$nulls":3},"A有","12307A","ABCA2","chr9:139906359","c.5472G>A(E35)","p.1824,H>H","rs2271862",0.69,0.83,0.82,0.84,0.76,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA2",0.95,16,"同义",13203,"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"]
["12307A(99)v11339",18,18,1,{"$nulls":3},"A有","12307A","ABCA2","chr9:139912484","c.2037A>G(E15)","p.679,D>D","rs908832",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%","15649702;16752360",{"$nulls":3},5,null,6,0,"ABCA2",0.95,16,"同义",13203,"1.00=30/30",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11333",19,19,1,{"$nulls":3},"A有","12307A","ABCA2","chr9:139913239","c.1751T>G(E13)","p.584,H>P","rs908828",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA2",0.95,16,"错义",12230,"1.00=27/27",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11336",3,2,0.67,{"$nulls":3},"A有","12307A","ABCA2","chr9:139923265","c.60A>G(E1)","p.20,A>A","rs4880189",0.77,0.79,0.75,0.82,0.63,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA2",0.95,16,"同义",13203,"0.67=4/6",null,20,"9q34","NM_212533.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15857",39,39,1,{"$nulls":3},"A有","12307A","ABCA3","chr16:2331430","c.4116A>G(E27)","p.1372,S>S","rs149532",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",18317237,"肺泡蛋白沉着症3型","AR",610921,5,1,2,1,"ABCA3",0.99,49,"同义",13203,"1.00=78/78",null,21,"16p13.3","NM_001089.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15856",33,33,1,{"$nulls":3},"A有","12307A","ABCA3","chr16:2367336","c.1059G>A(E10)","p.353,F>F","rs13332514",0.19,0.38,0.39,0.37,0.35,0.38,"纯合","无关","有rs号，MAF>=5%","18246475;18317237","肺泡蛋白沉着症3型","AR",610921,5,1,2,1,"ABCA3",0.99,49,"同义",13203,"1.00=51/51",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"]
["12307A(99)v14801",149,148,0.99,{"$nulls":3},"A有","12307A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14801",149,148,0.99,{"$nulls":3},"A有","12307A","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",248200,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14801",149,148,0.99,{"$nulls":3},"A有","12307A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14801",149,148,0.99,{"$nulls":3},"A有","12307A","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,604116,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14801",149,148,0.99,{"$nulls":3},"A有","12307A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.99=271/274",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14796",42,23,0.55,{"$nulls":3},"A有","12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14796",42,23,0.55,{"$nulls":3},"A有","12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14796",42,23,0.55,{"$nulls":3},"A有","12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14796",42,23,0.55,{"$nulls":3},"A有","12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14796",42,23,0.55,{"$nulls":3},"A有","12307A","ABCA4","chr1:94473845","c.5844T>C(E42)","p.1948,P>P","rs2275029",0.17,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.54=36/67",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14799",132,62,0.47,{"$nulls":3},"A有","12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14799",132,62,0.47,{"$nulls":3},"A有","12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14799",132,62,0.47,{"$nulls":3},"A有","12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14799",132,62,0.47,{"$nulls":3},"A有","12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14799",132,62,0.47,{"$nulls":3},"A有","12307A","ABCA4","chr1:94474328","c.5814T>C(E41)","p.1938,L>L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.45=109/243",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14798",69,31,0.45,{"$nulls":3},"A有","12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14798",69,31,0.45,{"$nulls":3},"A有","12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14798",69,31,0.45,{"$nulls":3},"A有","12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14798",69,31,0.45,{"$nulls":3},"A有","12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14798",69,31,0.45,{"$nulls":3},"A有","12307A","ABCA4","chr1:94476388","c.5682C>G(E40)","p.1894,L>L","rs1801574",0.2,0.13,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",18523590,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.38=50/130",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14800",95,51,0.54,{"$nulls":3},"A有","12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"年龄相关性黄斑变性2型","AD",153800,4,1,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14800",95,51,0.54,{"$nulls":3},"A有","12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"斯特格病变1型","AR",248200,4,3,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14800",95,51,0.54,{"$nulls":3},"A有","12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"视网膜色素变性19型-AR",null,601718,4,2,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14800",95,51,0.54,{"$nulls":3},"A有","12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"视锥-视杆细胞营养不良3型",null,604116,4,2,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14800",95,51,0.54,{"$nulls":3},"A有","12307A","ABCA4","chr1:94512654","IVS18-5G>A","剪切位点","rs76305791",2E-3,0.017,0.0095,0.024,0.022,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"青少年型视网膜色素变性-AR","AR",613341,4,3,8,5,"ABCA4",1,140,"剪切位点",16102,"0.57=108/190",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14802",155,125,0.81,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12307A(99)v14802",155,125,0.81,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12307A(99)v14802",155,125,0.81,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12307A(99)v14802",155,125,0.81,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12307A(99)v14802",155,125,0.81,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544135-94544136","IVS10+11至IVS10+10:插入C","非编码区","rs564661476",{"$nulls":4},0.43,0.81,"杂合","无关","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"非编码区",2500,"0.81=139/172",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12307A(99)v14795",174,89,0.51,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14795",174,89,0.51,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14795",174,89,0.51,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14795",174,89,0.51,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14795",174,89,0.51,{"$nulls":3},"A有","12307A","ABCA4","chr1:94544233","c.1269G>A(E10)","p.423,H>H","rs4147831",0.11,0.14,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,8,5,"ABCA4",1,140,"同义",13203,"0.49=134/272",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14797",121,121,1,{"$nulls":3},"A有","12307A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"年龄相关性黄斑变性2型","AD",153800,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14797",121,121,1,{"$nulls":3},"A有","12307A","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",248200,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14797",121,121,1,{"$nulls":3},"A有","12307A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"视网膜色素变性19型-AR",null,601718,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14797",121,121,1,{"$nulls":3},"A有","12307A","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,604116,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14797",121,121,1,{"$nulls":3},"A有","12307A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"青少年型视网膜色素变性-AR","AR",613341,5,1,8,5,"ABCA4",1,140,"同义",13203,"1.00=223/223",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19646",194,104,0.54,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ABCA5",1,320,"同义",13203,"0.54=198/366",null,23461,"17q24.3","NM_018672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19648",134,70,0.52,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ABCA5",1,320,"错义",12220,"0.52=117/223",null,23461,"17q24.3","NM_018672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19645",165,165,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,4,0,"ABCA5",1,320,"错义",12220,"1.00=300/300",null,23461,"17q24.3","NM_018672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19647",244,117,0.48,{"$nulls":3},"A有","12307A","ABCA5","chr17:67305488","c.384A>G(E3)","p.128,G>G","rs184289333",0.0022,0.0072,0.0095,0.0049,0.015,0.014,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ABCA5",1,320,"同义",13103,"0.46=224/490",null,23461,"17q24.3","NM_018672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2356",136,65,0.48,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ABCA6",1,280,"非编码区",14200,"0.49=111/228",null,23460,"17q24.3","NM_080284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2359",148,62,0.42,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ABCA6",1,280,"错义",12210,"0.42=121/289",null,23460,"17q24.3","NM_080284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2357",238,238,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,4,0,"ABCA6",1,280,"错义",12220,"1.00=426/426",null,23460,"17q24.3","NM_080284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2358",197,96,0.49,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ABCA6",1,280,"错义",12220,"0.47=174/367",null,23460,"17q24.3","NM_080284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23304",15,15,1,{"$nulls":3},"A有","12307A","ABCA7","chr19:1042809","c.563A>G(E7)","p.188,E>G","rs3764645",0.4,0.51,0.51,0.51,0.47,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"错义",12210,"1.00=24/24",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23303",6,6,1,{"$nulls":3},"A有","12307A","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",0.94,28,"非编码区",16303,"1.00=9/9",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"]
["12307A(99)v23297",5,5,1,{"$nulls":3},"A有","12307A","ABCA7","chr19:1047161","c.1851A>G(E15)","p.617,G>G","rs3752237",0.7,0.84,0.84,0.83,0.74,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"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"]
["12307A(99)v23295",48,48,1,{"$nulls":3},"A有","12307A","ABCA7","chr19:1049012","IVS17+8A>C","非编码区","rs4147912",0.82,0.83,0.83,0.83,null,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"非编码区",16203,"1.00=87/87",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"]
["12307A(99)v23300",5,3,0.6,{"$nulls":3},"A有","12307A","ABCA7","chr19:1049305","c.2421C>A(E18)","p.807,V>V","rs4147915",0.2,0.46,0.47,0.46,0.37,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"同义",13203,"0.62=5/8",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"]
["12307A(99)v23299",3,2,0.67,{"$nulls":3},"A有","12307A","ABCA7","chr19:1053524","c.3417C>G(E24)","p.1139,L>L","rs3752241",0.18,0.16,0.15,0.17,0.13,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"同义",13203,"0.67=2/3",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"]
["12307A(99)v23302",16,16,1,{"$nulls":3},"A有","12307A","ABCA7","chr19:1054060","c.3528A>G(E26)","p.1176,L>L","rs3752243",0.54,0.42,0.42,0.41,0.36,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"同义",13203,"1.00=24/24",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"]
["12307A(99)v23305",8,8,1,{"$nulls":3},"A有","12307A","ABCA7","chr19:1055191","c.4046G>A(E30)","p.1349,R>Q","rs3745842",0.39,0.39,0.39,0.39,0.29,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"错义",12220,"1.00=12/12",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"]
["12307A(99)v23296",24,24,1,{"$nulls":3},"A有","12307A","ABCA7","chr19:1056065","c.4239A>G(E32)","p.1413,R>R","rs881768",0.44,0.39,0.4,0.39,0.34,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"剪切位点",13202,"0.97=32/33",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"]
["12307A(99)v23301",24,24,1,{"$nulls":3},"A有","12307A","ABCA7","chr19:1056492","c.4580G>C(E33)","p.1527,G>A","rs3752246",0.83,0.7,0.69,0.72,0.66,0.66,"纯合","无关","有rs号，MAF>=5%","21460841;23669301;24643655",{"$nulls":3},5,null,12,0,"ABCA7",0.94,28,"错义",12220,"1.00=37/37",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"]
["12307A(99)v23298",22,11,0.5,{"$nulls":3},"A有","12307A","ABCA7","chr19:1061804","c.5487T>C(E41)","p.1829,N>N","rs78320196",0.06,0.022,0.014,0.029,0.026,0.03,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"同义",13203,"0.52=17/33",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"]
["12307A(99)v23294",3,2,0.67,{"$nulls":3},"A有","12307A","ABCA7","chr19:1065018","c.6133G>T(E46)","p.2045,A>S","rs4147934",0.61,0.52,0.52,0.52,0.34,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ABCA7",0.94,28,"错义",12220,"0.75=3/4",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"]
["12307A(99)v5009",124,124,1,{"$nulls":3},"A有","12307A","ABCA8","chr17:66872802","c.4122G>C(E32)","p.1374,P>P","rs1481",0.81,0.99,1,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCA8",1,300,"同义",13203,"0.98=235/239",null,10351,"17q24","NM_007168.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5010",136,57,0.42,{"$nulls":3},"A有","12307A","ABCA8","chr17:66904001","c.2038A>C(E16)","p.680,C>G","rs16973424",0.03,0.1,0.12,0.087,0.087,0.13,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ABCA8",1,300,"错义",12110,"0.41=99/240",null,10351,"17q24","NM_007168.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11096",222,222,1,{"$nulls":3},"A有","12307A","ABCA9","chr17:67031457","c.1058C>T(E8)","p.353,R>H","rs1860447",0.86,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCA9",1,280,"错义",12220,"1.00=409/411",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"]
["12307A(99)v4859",123,59,0.48,{"$nulls":3},"A有","12307A","ABCB1","chr7:87138645","c.3435A>G(E27)","p.1145,I>I","rs1045642",null,0.66,0.7,0.62,0.55,0.62,"杂合","未知","预测范围之外的同义突变","15197162;15805193;16999857;17146660;17366837;17548681;17674045;17913323;18182569;18213362;18285546;18424454;18518969;18547414;18698231;18725235;18784455;18812236;18854777;18936436;19155191;19193698;19197249;19285141;19373654;19437139;19694740;19740399;19930591;20170205;20214406;20354687;20389299;20533057;20859246;21102498;21172166;21185600;21247447;21332314;21364332;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22135187;22136368;22176633;22306099;22311042;22396794;22434582;22569204;22630058;22672924;22859359;22875622;22910404;23107763;23133420;23133441;23188198;23279665;23443032;23504525;23647060;23733030;23810503;23829278;23894093;23896815;23926124;23996099;24127120;24240480;24434428;24444408;24469730;24499375;24732756;24756092;24797400;24810093;24883056;24892773;24915124;24918524;24933103;24944790;24950410;24991206;25007187;25051347;25122423","秋水仙碱抵抗",null,120080,4,2,4,2,"ABCB1",1,290,"同义",13303,"0.49=111/226",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4859",123,59,0.48,{"$nulls":3},"A有","12307A","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,612244,4,2,4,2,"ABCB1",1,290,"同义",13303,"0.49=111/226",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"]
["12307A(99)v4858",231,118,0.51,{"$nulls":3},"A有","12307A","ABCB1","chr7:87160618","c.2677A>T(E22)","p.893,S>T","rs2032582",null,0.14,0.13,0.16,0.13,0.14,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,290,"错义",12320,"0.52=236/452",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4858",231,118,0.51,{"$nulls":3},"A有","12307A","ABCB1","chr7:87160618","c.2677A>T(E22)","p.893,S>T","rs2032582",null,0.14,0.13,0.16,0.13,0.14,"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,612244,3,2,4,2,"ABCB1",1,290,"错义",12320,"0.52=236/452",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"]
["12307A(99)v4856",153,74,0.48,{"$nulls":3},"A有","12307A","ABCB1","chr7:87179601","c.1236A>G(E13)","p.412,G>G","rs1128503",0.58,0.33,0.37,0.3,0.3,0.36,"杂合","无关","有rs号，MAF>=5%","15197162;16999857;17548681;17913323;18213362;18424454;18547414;18698231;18725235;18812236;19107781;19155191;19285141;19437139;19694740;19740399;19844206;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21553324;21705081;21790905;21806386;21840870;21896346;22015057;22134106;22136368;22306099;22358301;22569204;23133420;23133441;23188198;23443032;23462807;23896815;24240480;24732756;24756092;24797400;24810093;24874929;24944790;24996541;25007187;25122423","秋水仙碱抵抗",null,120080,5,2,4,2,"ABCB1",1,290,"同义",13203,"0.47=121/258",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4856",153,74,0.48,{"$nulls":3},"A有","12307A","ABCB1","chr7:87179601","c.1236A>G(E13)","p.412,G>G","rs1128503",0.58,0.33,0.37,0.3,0.3,0.36,"杂合","无关","有rs号，MAF>=5%","15197162;16999857;17548681;17913323;18213362;18424454;18547414;18698231;18725235;18812236;19107781;19155191;19285141;19437139;19694740;19740399;19844206;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21553324;21705081;21790905;21806386;21840870;21896346;22015057;22134106;22136368;22306099;22358301;22569204;23133420;23133441;23188198;23443032;23462807;23896815;24240480;24732756;24756092;24797400;24810093;24874929;24944790;24996541;25007187;25122423","炎性肠病13型",null,612244,5,2,4,2,"ABCB1",1,290,"同义",13203,"0.47=121/258",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"]
["12307A(99)v4857",122,121,0.99,{"$nulls":3},"A有","12307A","ABCB1","chr7:87229501","m.493T>C(E3)","非编码区","rs2214102",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"秋水仙碱抵抗",null,120080,5,1,4,2,"ABCB1",1,290,"非编码区",14200,"1.00=234/235",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4857",122,121,0.99,{"$nulls":3},"A有","12307A","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,612244,5,1,4,2,"ABCB1",1,290,"非编码区",14200,"1.00=234/235",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"]
["12307A(99)v22612",142,60,0.42,{"$nulls":3},"A有","12307A","ABCB10","chr1:229663065-229663069","IVS8-10至IVS8-14:缺失AGGAA","非编码区","rs113712941",1,1,1,1,0.11,1,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"ABCB10",0.77,150,"非编码区",2500,"0.40=69/171",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"]
["12307A(99)v3298",3,3,1,{"$nulls":3},"A有","12307A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,2,2,"ABCB11",1,240,"非编码区",14300,"1.00=4/4",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3298",3,3,1,{"$nulls":3},"A有","12307A","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",605479,3,1,2,2,"ABCB11",1,240,"非编码区",14300,"1.00=4/4",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3297",109,109,1,{"$nulls":3},"A有","12307A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,2,2,"ABCB11",1,240,"错义",12320,"1.00=171/171",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3297",109,109,1,{"$nulls":3},"A有","12307A","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",605479,3,1,2,2,"ABCB11",1,240,"错义",12320,"1.00=171/171",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22756",124,59,0.48,{"$nulls":3},"A有","12307A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"I型胆囊疾病","AD,AR",600803,5,1,1,3,"ABCB4",1,300,"同义",13203,"0.46=86/185",null,5244,"7q21.1","NM_000443.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22756",124,59,0.48,{"$nulls":3},"A有","12307A","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",1,300,"同义",13203,"0.46=86/185",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"]
["12307A(99)v22756",124,59,0.48,{"$nulls":3},"A有","12307A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,1,3,"ABCB4",1,300,"同义",13203,"0.46=86/185",null,5244,"7q21.1","NM_000443.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13429",155,77,0.5,{"$nulls":3},"A有","12307A","ABCB5","chr7:20666235","IVS3+1G>C","剪切位点","rs17143187",0.15,0.45,0.43,0.46,0.48,0.53,"杂合","无关","突变在经典剪切位点上",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"剪切位点",16204,"0.50=141/283",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13433",181,90,0.5,{"$nulls":3},"A有","12307A","ABCB5","chr7:20685484","c.784C>A(E8)","p.262,Q>K","rs2074000",0.14,0.46,0.45,0.47,0.47,0.49,"杂合","无关","有rs号，MAF>=5%",21298007,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12210,"0.47=153/327",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13431",162,76,0.47,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"剪切位点",16202,"0.49=139/282",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13432",73,39,0.53,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12220,"0.50=62/125",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13430",5,5,1,{"$nulls":3},"A有","12307A","ABCB5","chr7:20706645","m.1182G>T(E6)","非编码区","rs12535128",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"非编码区",14200,"1.00=5/5",null,340273,"7p21.1","NM_001163993.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13427",212,211,1,{"$nulls":3},"A有","12307A","ABCB5","chr7:20762646","c.2429G>T(E21)","p.810,G>V","rs62453384",0.23,0.21,0.24,0.18,0.19,0.2,"纯合","无关","有rs号，MAF>=5%",21298007,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12210,"1.00=363/364",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13434",130,130,1,{"$nulls":3},"A有","12307A","ABCB5","chr7:20768013","c.2802G>A(E23)","p.934,A>A","rs10254317",0.6,0.7,0.71,0.69,0.67,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"同义",13203,"1.00=231/232",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13428",64,64,1,{"$nulls":3},"A有","12307A","ABCB5","chr7:20778646","c.2908G>A(E24)","p.970,E>K","rs6461515",0.76,0.85,0.84,0.86,0.87,0.82,"纯合","无关","有rs号，MAF>=5%",21298007,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12220,"1.00=101/101",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27089",46,20,0.43,{"$nulls":3},"A有","12307A","ABCB6","chr2:220075024","IVS17-4A>G","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"Langereis血型系统",null,111600,4,2,2,3,"ABCB6",0.97,79,"剪切位点",16402,"0.49=36/73",null,10058,"2q36","NM_005689.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27089",46,20,0.43,{"$nulls":3},"A有","12307A","ABCB6","chr2:220075024","IVS17-4A>G","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"孤立性小眼畸形伴眼缺损7型","AD",614497,4,1,2,3,"ABCB6",0.97,79,"剪切位点",16402,"0.49=36/73",null,10058,"2q36","NM_005689.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27089",46,20,0.43,{"$nulls":3},"A有","12307A","ABCB6","chr2:220075024","IVS17-4A>G","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"泛发性色素异常症3","AD",615402,4,1,2,3,"ABCB6",0.97,79,"剪切位点",16402,"0.49=36/73",null,10058,"2q36","NM_005689.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27088",2,2,1,{"$nulls":3},"A有","12307A","ABCB6","chr2:220083279","c.117C>T(E1)","p.39,L>L","rs1109866",0.74,0.84,0.83,0.84,0.64,0.84,"纯合","无关","有rs号，MAF>=5%",null,"Langereis血型系统",null,111600,5,1,2,3,"ABCB6",0.97,79,"同义",13203,"1.00=3/3",null,10058,"2q36","NM_005689.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27088",2,2,1,{"$nulls":3},"A有","12307A","ABCB6","chr2:220083279","c.117C>T(E1)","p.39,L>L","rs1109866",0.74,0.84,0.83,0.84,0.64,0.84,"纯合","无关","有rs号，MAF>=5%",null,"孤立性小眼畸形伴眼缺损7型","AD",614497,5,1,2,3,"ABCB6",0.97,79,"同义",13203,"1.00=3/3",null,10058,"2q36","NM_005689.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27088",2,2,1,{"$nulls":3},"A有","12307A","ABCB6","chr2:220083279","c.117C>T(E1)","p.39,L>L","rs1109866",0.74,0.84,0.83,0.84,0.64,0.84,"纯合","无关","有rs号，MAF>=5%",null,"泛发性色素异常症3","AD",615402,5,1,2,3,"ABCB6",0.97,79,"同义",13203,"1.00=3/3",null,10058,"2q36","NM_005689.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31643",15,8,0.53,{"$nulls":3},"A有","12307A","ABCB8","chr7:150733025","c.984T>A(E7)","p.328,R>R","rs2303926",0.3,0.25,0.23,0.26,0.25,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCB8",1,34,"同义",13203,"0.43=10/23",null,11194,"7q36","NM_007188.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18511",15,7,0.47,{"$nulls":3},"A有","12307A","ABCB9","chr12:123424824","c.1388G>C(E8)","p.463,S>C","rs116062676",1.4E-3,0.012,0.014,0.0097,0.0046,3.3E-3,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ABCB9",0.88,40,"错义",12110,"0.50=12/24",null,23457,"12q24","NM_001243013.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11478",98,43,0.44,{"$nulls":3},"A有","12307A","ABCC1","chr16:16110375","c.512G>C(E5)","p.171,R>P","rs559703047",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ABCC1",0.99,100,"错义",12310,"0.46=77/167",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11480",89,45,0.51,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,5,0,"ABCC1",0.99,100,"同义",13203,"0.47=74/157",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11482",34,17,0.5,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,5,0,"ABCC1",0.99,100,"同义",13203,"0.48=28/58",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11481",32,16,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ABCC1",0.99,100,"非编码区",16203,"0.51=23/45",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11479",27,27,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ABCC1",0.99,100,"非编码区",16203,"0.98=51/52",null,4363,"16p13.1","NM_004996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30393",40,20,0.5,{"$nulls":3},"A有","12307A","ABCC10","chr6:43399837","m.349A>G(E1)","非编码区","rs700008",0.88,0.95,0.95,0.95,null,0.95,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCC10",0.96,53,"非编码区",14200,"0.49=37/75",null,89845,"6p21.1","NM_033450.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30392",24,15,0.62,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ABCC10",0.96,53,"非编码区",16203,"0.57=27/47",null,89845,"6p21.1","NM_001198934.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8878",37,37,1,{"$nulls":3},"A有","12307A","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",117800,5,1,1,1,"ABCC11",1,140,"错义",12210,"1.00=59/59",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"]
["12307A(99)v1244",94,94,1,{"$nulls":3},"A有","12307A","ABCC12","chr16:48122582","c.3349G>A(E24)","p.1117,R>C","rs7193955",0.59,0.89,0.88,0.91,0.86,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCC12",1,180,"错义",12210,"0.99=158/159",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"]
["12307A(99)v1245",81,30,0.37,{"$nulls":3},"A有","12307A","ABCC12","chr16:48180234","c.102T>G(E1)","p.34,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ABCC12",1,180,"同义",13403,"0.33=46/140",null,94160,"16q12.1","NM_033226.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25121",68,40,0.59,{"$nulls":3},"A有","12307A","ABCC2","chr10:101542578","m.116C>T(E1)","非编码区","rs717620",0.13,0.23,0.22,0.23,0.19,0.22,"杂合","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",237500,5,3,4,1,"ABCC2",1,190,"非编码区",14200,"0.61=69/113",null,1244,"10q24","NM_000392.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25119",130,130,1,{"$nulls":3},"A有","12307A","ABCC2","chr10:101544447","c.116A>T(E2)","p.39,Y>F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,4,1,"ABCC2",1,190,"错义",12230,"1.00=257/257",null,1244,"10q24","NM_000392.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25120",79,36,0.46,{"$nulls":3},"A有","12307A","ABCC2","chr10:101563815","c.1249G>A(E10)","p.417,V>I","rs2273697",0.19,0.12,0.11,0.14,0.11,0.085,"杂合","无关","有rs号，MAF>=5%","16385451;18176959;18395921;18547414;18817904;19568750;20216337;22112610;22318656;22630058;23069858;23506516;23896815;24732756;24831289;24944790;24991206","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",237500,5,3,4,1,"ABCC2",1,190,"错义",12220,"0.43=55/129",null,1244,"10q24","NM_000392.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25118",66,32,0.48,{"$nulls":3},"A有","12307A","ABCC2","chr10:101604207","c.3972C>T(E28)","p.1324,I>I","rs3740066",0.29,0.25,0.26,0.25,0.19,0.24,"杂合","无关","有rs号，MAF>=5%","17997497;18395921;18926681;19568750;22630058;22868256;23506516;24732756;24944790","杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,3,4,1,"ABCC2",1,190,"同义",13203,"0.50=67/134",null,1244,"10q24","NM_000392.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20922",85,42,0.49,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ABCC4",0.99,260,"非编码区",14200,"0.48=64/134",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20921",147,83,0.56,{"$nulls":3},"A有","12307A","ABCC4","chr13:95714976","c.3348C>T(E26)","p.1116,K>K","rs1751034",0.79,0.81,0.82,0.81,0.74,0.78,"杂合","无关","有rs号，MAF>=5%","18364470;24944790",{"$nulls":3},5,null,7,0,"ABCC4",0.99,260,"同义",13203,"0.55=126/228",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20919",142,76,0.54,{"$nulls":3},"A有","12307A","ABCC4","chr13:95726541","c.2844A>G(E23)","p.948,F>F","rs1189466",0.9,0.82,0.84,0.81,0.75,0.79,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,260,"同义",13203,"0.52=129/248",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20916",118,53,0.45,{"$nulls":3},"A有","12307A","ABCC4","chr13:95727780","c.2712T>C(E22)","p.904,L>L","rs1678339",0.89,0.82,0.83,0.81,0.75,0.79,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,260,"同义",13203,"0.44=92/209",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20923",65,25,0.38,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,7,0,"ABCC4",0.99,260,"同义",13203,"0.39=46/118",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20920",60,22,0.37,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,7,0,"ABCC4",0.99,260,"同义",13203,"0.36=41/115",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20917",87,37,0.43,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,7,0,"ABCC4",0.99,260,"同义",13203,"0.42=64/154",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2639",152,74,0.49,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ABCC5",1,140,"同义",13203,"0.48=124/261",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2638",174,77,0.44,{"$nulls":3},"A有","12307A","ABCC5","chr3:183685534","c.1782A>G(E12)","p.594,C>C","rs939336",0.69,0.85,0.87,0.82,0.83,0.86,"杂合","无关","有rs号，MAF>=5%","14507663;24924344",{"$nulls":3},5,null,3,0,"ABCC5",1,140,"同义",13203,"0.43=130/299",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2640",124,61,0.49,{"$nulls":3},"A有","12307A","ABCC5","chr3:183696402","c.1185A>G(E9)","p.395,A>A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"杂合","无关","有rs号，MAF>=5%",24924344,{"$nulls":3},5,null,3,0,"ABCC5",1,140,"同义",13203,"0.49=110/225",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15901",12,7,0.58,{"$nulls":3},"A有","12307A","ABCC6","chr16:16251599","c.3803C>T(E27)","p.1268,R>Q","rs2238472",0.18,0.096,0.09,0.1,0.11,0.12,"杂合","无关","有疾病相关报道，MAF>=5%","24944790;11536079;","早期弹性纤维假黄瘤","AD",177850,5,1,8,3,"ABCC6",1,68,"错义",11200,"0.59=13/22",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"]
["12307A(99)v15901",12,7,0.58,{"$nulls":3},"A有","12307A","ABCC6","chr16:16251599","c.3803C>T(E27)","p.1268,R>Q","rs2238472",0.18,0.096,0.09,0.1,0.11,0.12,"杂合","无关","有疾病相关报道，MAF>=5%","24944790;11536079;","弹性纤维假黄瘤","AR",264800,5,3,8,3,"ABCC6",1,68,"错义",11200,"0.59=13/22",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15901",12,7,0.58,{"$nulls":3},"A有","12307A","ABCC6","chr16:16251599","c.3803C>T(E27)","p.1268,R>Q","rs2238472",0.18,0.096,0.09,0.1,0.11,0.12,"杂合","无关","有疾病相关报道，MAF>=5%","24944790;11536079;","婴儿期广泛性动脉钙化2型","AR",614473,5,3,8,3,"ABCC6",1,68,"错义",11200,"0.59=13/22",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"]
["12307A(99)v15904",61,61,1,{"$nulls":3},"A有","12307A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"早期弹性纤维假黄瘤","AD",177850,5,1,8,3,"ABCC6",1,68,"错义",12230,"1.00=100/100",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15904",61,61,1,{"$nulls":3},"A有","12307A","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",264800,5,1,8,3,"ABCC6",1,68,"错义",12230,"1.00=100/100",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"]
["12307A(99)v15904",61,61,1,{"$nulls":3},"A有","12307A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,8,3,"ABCC6",1,68,"错义",12230,"1.00=100/100",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15908",24,23,0.96,{"$nulls":3},"A有","12307A","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",177850,5,1,8,3,"ABCC6",1,68,"同义",13203,"0.97=34/35",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"]
["12307A(99)v15908",24,23,0.96,{"$nulls":3},"A有","12307A","ABCC6","chr16:16272670","c.2400T>C(E18)","p.800,G>G","rs7500834",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤","AR",264800,5,1,8,3,"ABCC6",1,68,"同义",13203,"0.97=34/35",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15908",24,23,0.96,{"$nulls":3},"A有","12307A","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",614473,5,1,8,3,"ABCC6",1,68,"同义",13203,"0.97=34/35",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"]
["12307A(99)v15910",53,22,0.42,{"$nulls":3},"A有","12307A","ABCC6","chr16:16278863","c.1896G>T(E15)","p.632,H>Q","rs8058694",0.33,0.14,0.13,0.16,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",11536079,"早期弹性纤维假黄瘤","AD",177850,5,1,8,3,"ABCC6",1,68,"错义",12220,"0.41=39/94",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15910",53,22,0.42,{"$nulls":3},"A有","12307A","ABCC6","chr16:16278863","c.1896G>T(E15)","p.632,H>Q","rs8058694",0.33,0.14,0.13,0.16,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",11536079,"弹性纤维假黄瘤","AR",264800,5,3,8,3,"ABCC6",1,68,"错义",12220,"0.41=39/94",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"]
["12307A(99)v15910",53,22,0.42,{"$nulls":3},"A有","12307A","ABCC6","chr16:16278863","c.1896G>T(E15)","p.632,H>Q","rs8058694",0.33,0.14,0.13,0.16,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",11536079,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,8,3,"ABCC6",1,68,"错义",12220,"0.41=39/94",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15907",55,24,0.44,{"$nulls":3},"A有","12307A","ABCC6","chr16:16278869","c.1890G>C(E15)","p.630,T>T","rs8058696",0.33,0.14,0.13,0.16,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",11439001,"早期弹性纤维假黄瘤","AD",177850,5,1,8,3,"ABCC6",1,68,"同义",13203,"0.46=42/92",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"]
["12307A(99)v15907",55,24,0.44,{"$nulls":3},"A有","12307A","ABCC6","chr16:16278869","c.1890G>C(E15)","p.630,T>T","rs8058696",0.33,0.14,0.13,0.16,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",11439001,"弹性纤维假黄瘤","AR",264800,5,3,8,3,"ABCC6",1,68,"同义",13203,"0.46=42/92",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15907",55,24,0.44,{"$nulls":3},"A有","12307A","ABCC6","chr16:16278869","c.1890G>C(E15)","p.630,T>T","rs8058696",0.33,0.14,0.13,0.16,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",11439001,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,8,3,"ABCC6",1,68,"同义",13203,"0.46=42/92",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"]
["12307A(99)v15903",42,16,0.38,{"$nulls":3},"A有","12307A","ABCC6","chr16:16281007","c.1841A>G(E14)","p.614,V>A","rs12931472",0.34,0.13,0.12,0.15,0.12,0.16,"杂合","无关","有rs号，MAF>=5%",10835642,"早期弹性纤维假黄瘤","AD",177850,5,1,8,3,"ABCC6",1,68,"错义",12220,"0.31=21/67",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15903",42,16,0.38,{"$nulls":3},"A有","12307A","ABCC6","chr16:16281007","c.1841A>G(E14)","p.614,V>A","rs12931472",0.34,0.13,0.12,0.15,0.12,0.16,"杂合","无关","有rs号，MAF>=5%",10835642,"弹性纤维假黄瘤","AR",264800,5,3,8,3,"ABCC6",1,68,"错义",12220,"0.31=21/67",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"]
["12307A(99)v15903",42,16,0.38,{"$nulls":3},"A有","12307A","ABCC6","chr16:16281007","c.1841A>G(E14)","p.614,V>A","rs12931472",0.34,0.13,0.12,0.15,0.12,0.16,"杂合","无关","有rs号，MAF>=5%",10835642,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,8,3,"ABCC6",1,68,"错义",12220,"0.31=21/67",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15900",33,14,0.42,{"$nulls":3},"A有","12307A","ABCC6","chr16:16291971","c.1245C>T(E10)","p.415,V>V","rs9940825",0.23,0.089,0.1,0.073,0.057,0.096,"杂合","无关","有rs号，MAF>=5%",null,"早期弹性纤维假黄瘤","AD",177850,5,1,8,3,"ABCC6",1,68,"同义",13203,"0.37=19/52",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"]
["12307A(99)v15900",33,14,0.42,{"$nulls":3},"A有","12307A","ABCC6","chr16:16291971","c.1245C>T(E10)","p.415,V>V","rs9940825",0.23,0.089,0.1,0.073,0.057,0.096,"杂合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤","AR",264800,5,3,8,3,"ABCC6",1,68,"同义",13203,"0.37=19/52",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15900",33,14,0.42,{"$nulls":3},"A有","12307A","ABCC6","chr16:16291971","c.1245C>T(E10)","p.415,V>V","rs9940825",0.23,0.089,0.1,0.073,0.057,0.096,"杂合","无关","有rs号，MAF>=5%",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,8,3,"ABCC6",1,68,"同义",13203,"0.37=19/52",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"]
["12307A(99)v15902",26,10,0.38,{"$nulls":3},"A有","12307A","ABCC6","chr16:16291983","c.1233A>G(E10)","p.411,N>N","rs9930886",0.28,0.3,0.32,0.27,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",11536079,"早期弹性纤维假黄瘤","AD",177850,5,1,8,3,"ABCC6",1,68,"同义",13203,"0.36=12/33",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15902",26,10,0.38,{"$nulls":3},"A有","12307A","ABCC6","chr16:16291983","c.1233A>G(E10)","p.411,N>N","rs9930886",0.28,0.3,0.32,0.27,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",11536079,"弹性纤维假黄瘤","AR",264800,5,3,8,3,"ABCC6",1,68,"同义",13203,"0.36=12/33",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"]
["12307A(99)v15902",26,10,0.38,{"$nulls":3},"A有","12307A","ABCC6","chr16:16291983","c.1233A>G(E10)","p.411,N>N","rs9930886",0.28,0.3,0.32,0.27,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",11536079,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,8,3,"ABCC6",1,68,"同义",13203,"0.36=12/33",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19664",17,17,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","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",1,86,"错义",12220,"1.00=25/25",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"]
["12307A(99)v19664",17,17,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,86,"错义",12220,"1.00=25/25",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19664",17,17,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","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",1,86,"错义",12220,"1.00=25/25",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"]
["12307A(99)v19664",17,17,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,86,"错义",12220,"1.00=25/25",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19664",17,17,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"纯合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿暂时性糖尿病2型",null,610374,5,1,4,5,"ABCC8",1,86,"错义",12220,"1.00=25/25",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"]
["12307A(99)v19665",23,23,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"纯合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,86,"同义",13203,"1.00=40/40",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19665",23,23,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"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",1,86,"同义",13203,"1.00=40/40",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"]
["12307A(99)v19665",23,23,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"纯合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,86,"同义",13203,"1.00=40/40",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19665",23,23,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"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",1,86,"同义",13203,"1.00=40/40",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"]
["12307A(99)v19665",23,23,1,{"$nulls":3},"A有","12307A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"纯合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,1,4,5,"ABCC8",1,86,"同义",13203,"1.00=40/40",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19667",19,10,0.53,{"$nulls":3},"A有","12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"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",1,86,"剪切位点",16202,"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"]
["12307A(99)v19667",19,10,0.53,{"$nulls":3},"A有","12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"杂合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,86,"剪切位点",16202,"0.50=12/24",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19667",19,10,0.53,{"$nulls":3},"A有","12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"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",1,86,"剪切位点",16202,"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"]
["12307A(99)v19667",19,10,0.53,{"$nulls":3},"A有","12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"杂合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,86,"剪切位点",16202,"0.50=12/24",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19667",19,10,0.53,{"$nulls":3},"A有","12307A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"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",1,86,"剪切位点",16202,"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"]
["12307A(99)v19666",50,22,0.44,{"$nulls":3},"A有","12307A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,86,"同义",13203,"0.44=38/86",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19666",50,22,0.44,{"$nulls":3},"A有","12307A","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",1,86,"同义",13203,"0.44=38/86",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"]
["12307A(99)v19666",50,22,0.44,{"$nulls":3},"A有","12307A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,86,"同义",13203,"0.44=38/86",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19666",50,22,0.44,{"$nulls":3},"A有","12307A","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",1,86,"同义",13203,"0.44=38/86",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"]
["12307A(99)v19666",50,22,0.44,{"$nulls":3},"A有","12307A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,86,"同义",13203,"0.44=38/86",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25796",140,138,0.99,{"$nulls":3},"A有","12307A","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",1,290,"同义",13203,"0.99=281/285",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"]
["12307A(99)v25796",140,138,0.99,{"$nulls":3},"A有","12307A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1O型",null,608569,5,1,2,3,"ABCC9",1,290,"同义",13203,"0.99=281/285",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25796",140,138,0.99,{"$nulls":3},"A有","12307A","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",1,290,"同义",13203,"0.99=281/285",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"]
["12307A(99)v25795",35,35,1,{"$nulls":3},"A有","12307A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"纯合","无关","有rs号，MAF>=5%",null,"多毛性骨软骨发育不良","AD",239850,5,1,2,3,"ABCC9",1,290,"剪切位点",16201,"0.98=51/52",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25795",35,35,1,{"$nulls":3},"A有","12307A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"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",1,290,"剪切位点",16201,"0.98=51/52",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"]
["12307A(99)v25795",35,35,1,{"$nulls":3},"A有","12307A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"纯合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,290,"剪切位点",16201,"0.98=51/52",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22721",3,3,1,{"$nulls":3},"A有","12307A","ABCD1","chrX:153009197","m.2645G>C(E10)","非编码区","rs2229539",null,0.59,0.59,0.58,0.46,0.65,"纯合","未知","UTR突变可能影响蛋白翻译",null,"X连锁肾上腺脑白质营养不良","XR",300100,3,1,1,1,"ABCD1",0.98,30,"非编码区",14300,"1.00=3/3",null,215,"Xq28","NM_000033.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18057",59,46,0.78,{"$nulls":3},"A有","12307A","ABCD3","chr1:94982785","m.2182A>T(E23)","非编码区","rs662813",0.28,0.35,0.39,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCD3",1,330,"非编码区",14200,"0.76=66/87",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"]
["12307A(99)v18058",38,16,0.42,{"$nulls":3},"A有","12307A","ABCD3","chr1:94982810","m.2207A>G(E23)","非编码区","rs337592",0.11,0.12,0.14,0.092,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCD3",1,330,"非编码区",14200,"0.45=19/42",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"]
["12307A(99)v21233",127,125,0.98,{"$nulls":3},"A有","12307A","ABCE1","chr4:146046138","IVS16-4T>C","剪切位点","rs4835203",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCE1",1,310,"剪切位点",16202,"0.98=221/225",null,6059,"4q31","NM_001040876.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16681",68,68,1,{"$nulls":3},"A有","12307A","ABCF2","chr7:150916228","c.939G>A(E8)","p.313,Y>Y","rs6949587",0.42,0.69,0.76,0.63,0.67,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF2",1,100,"同义",13203,"0.99=123/124",null,10061,"7q36","NM_005692.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16680",74,74,1,{"$nulls":3},"A有","12307A","ABCF2","chr7:150921950","c.279A>G(E3)","p.93,L>L","rs6464133",0.74,0.9,0.91,0.88,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF2",1,100,"同义",13203,"1.00=130/130",null,10061,"7q36","NM_005692.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30534",22,10,0.45,{"$nulls":3},"A有","12307A","ABCF3","chr3:183903935-183903936","m.73(E1)至m.74(E1):插入G","非编码区","rs397755106",0.44,0.6,0.58,0.62,0.066,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"ABCF3",1,93,"非编码区",2420,"0.42=10/24",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"]
["12307A(99)v4278",19,13,0.68,{"$nulls":3},"A有","12307A","ABCG1","chr21:43640066","m.59C>G(E1)","非编码区","rs9975490",0.16,0.26,0.25,0.27,null,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCG1",0.98,98,"非编码区",14200,"0.71=20/28",null,9619,"21q22.3","NM_207174.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4280",87,28,0.32,{"$nulls":3},"A有","12307A","ABCG1","chr21:43708431-43708432","IVS10+9至IVS10+10:插入C","非编码区","rs2234720",{"$nulls":4},0.04,0.32,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"ABCG1",0.98,98,"非编码区",2500,"0.33=30/92",null,9619,"21q22.3","NM_004915.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22162",147,147,1,{"$nulls":3},"A有","12307A","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",1,300,"错义",12220,"1.00=277/278",null,9429,"4q22","NM_001257386.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22162",147,147,1,{"$nulls":3},"A有","12307A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"纯合","无关","有rs号，MAF>=5%","18547414;18834626;19474294;19503597;19506252;19842935;19890391;19930591;20053405;20130569;20162742;20162743;20389299;20421215;20470424;20714133;20837191;20858603;20959405;21918980;21983786;22015057;22112610;22229870;23100282;23263486;23280364;23438071;23712608;23778707;23827224;24499401;24513273;24532835;24598718;24637121;24777469;24827988;24883056;24944790;24991206;25128519","血型JUNIOR系统",null,614490,5,1,1,2,"ABCG2",1,300,"错义",12220,"1.00=277/278",null,9429,"4q22","NM_001257386.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13458",26,25,0.96,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,1,0,"ABCG4",1,68,"非编码区",2420,"0.96=26/27",null,64137,"11q23.3","NM_001142505.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1386",5,4,0.8,{"$nulls":3},"A有","12307A","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",210250,5,3,5,2,"ABCG8",1,90,"非编码区",14200,"0.71=10/14",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1386",5,4,0.8,{"$nulls":3},"A有","12307A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"杂合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,2,5,2,"ABCG8",1,90,"非编码区",14200,"0.71=10/14",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1385",34,34,1,{"$nulls":3},"A有","12307A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"纯合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,1,5,2,"ABCG8",1,90,"剪切位点",16202,"0.98=57/58",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1385",34,34,1,{"$nulls":3},"A有","12307A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"纯合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,90,"剪切位点",16202,"0.98=57/58",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1387",37,37,1,{"$nulls":3},"A有","12307A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"纯合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","谷甾醇血症","AR",210250,5,1,5,2,"ABCG8",1,90,"错义",12210,"1.00=65/65",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1387",37,37,1,{"$nulls":3},"A有","12307A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"纯合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,90,"错义",12210,"1.00=65/65",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1383",83,82,0.99,{"$nulls":3},"A有","12307A","ABCG8","chr2:44101538","IVS9-8C>T","剪切位点","rs28517482",0.76,0.97,0.97,0.98,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,1,5,2,"ABCG8",1,90,"剪切位点",16202,"0.99=141/143",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1383",83,82,0.99,{"$nulls":3},"A有","12307A","ABCG8","chr2:44101538","IVS9-8C>T","剪切位点","rs28517482",0.76,0.97,0.97,0.98,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,90,"剪切位点",16202,"0.99=141/143",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1384",152,152,1,{"$nulls":3},"A有","12307A","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",210250,3,1,5,2,"ABCG8",1,90,"错义",12320,"1.00=274/274",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1384",152,152,1,{"$nulls":3},"A有","12307A","ABCG8","chr2:44104925","c.1895T>C(E13)","p.632,V>A","rs6544718",null,1,1,1,0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害","15996216;16507104;20170916","胆囊病4型",null,611465,3,1,5,2,"ABCG8",1,90,"错义",12320,"1.00=274/274",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12075",46,46,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ABHD1",1,100,"错义",12230,"1.00=63/63",null,84696,"2p23.3","NM_032604.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19119",7,5,0.71,{"$nulls":3},"A有","12307A","ABHD10","chr3:111710682","m.1116A>C(E5)","非编码区","rs3749308",0.18,0.11,0.09,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD10",1,190,"非编码区",14200,"0.67=6/9",null,55347,"3q13.2","NM_018394.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30760",21,21,1,{"$nulls":3},"A有","12307A","ABHD11","chr7:73151644","c.540A>G(E4)","p.180,Y>Y","rs6460052",0.6,0.56,0.55,0.58,0.49,0.53,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD11",1,40,"同义",13203,"1.00=40/40",null,83451,"7q11.23","NM_148912.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16666",27,19,0.7,{"$nulls":3},"A有","12307A","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",0.85,130,"非编码区",2420,"0.70=19/27",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"]
["12307A(99)v16665",15,15,1,{"$nulls":3},"A有","12307A","ABHD12","chr20:25281333","m.1624G>A(E13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,130,"非编码区",14200,"1.00=21/21",null,26090,"20p11.21","NM_001042472.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16664",38,38,1,{"$nulls":3},"A有","12307A","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",0.85,130,"非编码区",14200,"1.00=57/57",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"]
["12307A(99)v16663",26,26,1,{"$nulls":3},"A有","12307A","ABHD12","chr20:25282944","c.1068A>G(E12)","p.356,D>D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,4,1,"ABHD12",0.85,130,"同义",13203,"1.00=39/39",null,26090,"20p11.21","NM_001042472.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22825",72,36,0.5,{"$nulls":3},"A有","12307A","ABHD12B","chr14:51352608","c.657T>C(E7)","p.219,G>G","rs2297893",0.1,0.16,0.19,0.14,0.18,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"同义",13203,"0.46=56/122",null,145447,"14q22.1","NM_001206673.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22824",248,248,1,{"$nulls":3},"A有","12307A","ABHD12B","chr14:51368610","c.844A>G(E10)","p.282,I>V","rs28564871",0.28,0.46,0.47,0.46,0.45,0.44,"纯合","无关","有疾病相关报道，MAF>=5%","16959974;",{"$nulls":3},5,null,6,0,"ABHD12B",0.84,190,"错义",11200,"1.00=493/495",null,145447,"14q22.1","NM_001206673.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22823",111,110,0.99,{"$nulls":3},"A有","12307A","ABHD12B","chr14:51370784","IVS11-8G>C","剪切位点","rs4901064",0.28,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"剪切位点",16202,"0.99=194/195",null,145447,"14q22.1","NM_001206673.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22822",141,141,1,{"$nulls":3},"A有","12307A","ABHD12B","chr14:51371121","m.1141C>T(E13)","非编码区","rs4901065",0.28,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"非编码区",14200,"1.00=250/250",null,145447,"14q22.1","NM_001206673.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22821",132,131,0.99,{"$nulls":3},"A有","12307A","ABHD12B","chr14:51371130","m.1150C>T(E13)","非编码区","rs11157780",0.25,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"非编码区",14200,"1.00=226/227",null,145447,"14q22.1","NM_001206673.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22820",90,90,1,{"$nulls":3},"A有","12307A","ABHD12B","chr14:51371150","m.1170C>T(E13)","非编码区","rs11157781",0.28,0.46,0.47,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.84,190,"非编码区",14200,"1.00=147/147",null,145447,"14q22.1","NM_001206673.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28599",33,33,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ABHD15",0.81,21,"非编码区",14200,"1.00=50/50",null,116236,"17q11.2","NM_198147.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28600",8,8,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ABHD15",0.81,21,"错义",12220,"1.00=10/10",null,116236,"17q11.2","NM_198147.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24436",10,10,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ABHD2",1,130,"非编码区",14200,"1.00=15/15",null,11057,"15q26.1","NM_007011.7","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24437",117,117,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ABHD2",1,130,"非编码区",14200,"1.00=195/195",null,11057,"15q26.1","NM_007011.7","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2705",2,2,1,{"$nulls":3},"A有","12307A","ABHD8","chr19:17412399","c.27G>A(E2)","p.9,I>I","rs11086067",0.24,0.11,0.09,0.13,0.12,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD8",0.92,14,"同义",13203,"1.00=6/6",null,79575,"19p13.11","NM_024527.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1800",6,6,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ABI3",1,42,"错义",12230,"1.00=9/9",null,51225,"17q21.3","NM_001135186.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5407",68,67,0.99,{"$nulls":3},"A有","12307A","ABI3BP","chr3:100617680","c.408C>T(E4)","p.136,S>S","rs2245370",0.73,0.92,0.95,0.89,0.88,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3BP",1,310,"同义",13203,"0.99=133/135",null,25890,"3q12","NM_015429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5408",63,34,0.54,{"$nulls":3},"A有","12307A","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",{"$nulls":4},5,null,2,0,"ABI3BP",1,310,"错义",18220,"0.56=61/109",null,25890,"3q12","NM_015429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2646",11,10,0.91,{"$nulls":3},"A有","12307A","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",{"$nulls":4},5,null,2,0,"ABL1",1,77,"非编码区",2600,"0.92=11/12",null,25,"9q34.1","NM_005157.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2645",14,14,1,{"$nulls":3},"A有","12307A","ABL1","chr9:133761001","c.3324A>G(E11)","p.1108,P>P","rs1056171",0.65,0.61,0.61,0.61,0.54,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABL1",1,77,"同义",13203,"1.00=28/28",null,25,"9q34.1","NM_005157.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19896",6,3,0.5,{"$nulls":3},"A有","12307A","ABLIM1","chr10:116195776","m.2702C>G(E23)","非编码区","rs1057139",0.66,0.63,0.59,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABLIM1",1,200,"非编码区",14200,"0.50=3/6",null,3983,"10q25","NM_001003407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19897",37,19,0.51,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ABLIM1",1,200,"同义",13203,"0.52=34/65",null,3983,"10q25","NM_001003407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5741",31,31,1,{"$nulls":3},"A有","12307A","ABLIM2","chr4:8009737","m.1588C>T(E14)","非编码区","rs16841552",0.17,0.3,0.3,0.31,null,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"非编码区",14200,"1.00=45/45",null,84448,"4p16.1","NM_001130088.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5743",44,44,1,{"$nulls":3},"A有","12307A","ABLIM2","chr4:8009759","m.1566G>A(E14)","非编码区","rs17180256",0.77,0.78,0.78,0.78,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"非编码区",14200,"0.96=66/69",null,84448,"4p16.1","NM_001130088.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5742",32,12,0.38,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"同义",13203,"0.39=21/54",null,84448,"4p16.1","NM_001130083.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5739",60,60,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"剪切位点",16202,"1.00=111/111",null,84448,"4p16.1","NM_001130083.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5740",61,61,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ABLIM2",1,96,"剪切位点",16202,"1.00=112/112",null,84448,"4p16.1","NM_001130083.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20625",3,2,0.67,{"$nulls":3},"A有","12307A","ABO","chr9:136131289","c.828C>T(E7)","p.276,R>R","rs8176748",0.27,0.25,0.26,0.23,0.18,0.27,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"同义",13203,"0.75=3/4",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"]
["12307A(99)v20632",5,2,0.4,{"$nulls":3},"A有","12307A","ABO","chr9:136131347","c.770G>A(E7)","p.257,P>L","rs8176745",0.27,0.25,0.26,0.23,0.18,0.32,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"错义",12210,"0.33=2/6",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20627",7,4,0.57,{"$nulls":3},"A有","12307A","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,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.67=8/12",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"]
["12307A(99)v20628",9,5,0.56,{"$nulls":3},"A有","12307A","ABO","chr9:136131472","c.645A>T(E7)","p.215,S>R","rs8176740",0.27,0.25,0.26,0.23,0.2,0.25,"杂合","无关","有rs号，MAF>=5%","19169360;24743543","ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.60=9/15",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20623",43,23,0.53,{"$nulls":3},"A有","12307A","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,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.51=41/81",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"]
["12307A(99)v20629",98,44,0.45,{"$nulls":3},"A有","12307A","ABO","chr9:136133506","c.220A>G(E5)","p.74,S>P","rs512770",0.73,0.75,0.74,0.77,0.73,0.73,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.48=81/170",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20626",95,45,0.47,{"$nulls":3},"A有","12307A","ABO","chr9:136133531","IVS4-9A>G","剪切位点","rs4962040",0.31,0.34,0.31,0.37,0.3,0.34,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"剪切位点",16202,"0.49=80/164",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"]
["12307A(99)v20624",38,15,0.39,{"$nulls":3},"A有","12307A","ABO","chr9:136135237","c.189A>G(E4)","p.63,H>H","rs549443",0.73,0.75,0.74,0.77,0.68,0.73,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"同义",13203,"0.39=26/67",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20631",38,15,0.39,{"$nulls":3},"A有","12307A","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,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.39=26/67",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"]
["12307A(99)v20630",42,19,0.45,{"$nulls":3},"A有","12307A","ABO","chr9:136136770","c.106A>C(E3)","p.36,F>V","rs688976",0.72,0.75,0.74,0.77,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,10,1,"ABO",0.97,48,"错义",12230,"0.49=39/79",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30951",31,18,0.58,{"$nulls":3},"A有","12307A","ABP1","chr7:150554255","c.697G>A(E2)","p.233,V>M","rs201353384",1E-3,0.0048,0.0095,0,0.0034,0.0064,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"ABP1",0.98,58,"错义",12120,"0.56=35/62",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30945",71,37,0.52,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,8,0,"ABP1",0.98,58,"同义",13203,"0.55=72/131",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30948",35,17,0.49,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,8,0,"ABP1",0.98,58,"同义",13203,"0.48=30/63",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30944",26,9,0.35,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,8,0,"ABP1",0.98,58,"同义",13203,"0.26=12/46",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30949",16,16,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,8,0,"ABP1",0.98,58,"错义",12220,"1.00=24/24",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30947",16,16,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,8,0,"ABP1",0.98,58,"同义",13203,"1.00=24/24",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30950",42,21,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,8,0,"ABP1",0.98,58,"同义",13203,"0.56=44/79",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30946",49,26,0.53,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,8,0,"ABP1",0.98,58,"错义",12220,"0.53=45/85",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v417",23,23,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ABR",0.96,74,"同义",13203,"1.00=41/41",null,29,"17p13.3","NM_001092.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25618",77,77,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ABT1",1,64,"同义",13203,"1.00=158/158",null,29777,"6p22.2","NM_013375.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22728",70,35,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ACAA1",0.91,79,"错义",12220,"0.52=62/120",null,30,"3p22.2","NM_001607.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4282",110,110,1,{"$nulls":3},"A有","12307A","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",613933,5,1,3,1,"ACACA",1,240,"同义",13203,"1.00=209/209",null,31,"17q21","NM_198834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4283",193,101,0.52,{"$nulls":3},"A有","12307A","ACACA","chr17:35609866","c.1923C>T(E15)","p.641,Q>Q","rs2229416",0.22,0.5,0.46,0.54,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",19846279,"乙酰CoA羧化酶缺陷症","AR",613933,5,3,3,1,"ACACA",1,240,"同义",13203,"0.53=173/324",null,31,"17q21","NM_198834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4281",119,55,0.46,{"$nulls":3},"A有","12307A","ACACA","chr17:35696804","c.45G>A(E2)","p.15,F>F","rs58654829",null,0.7,0.69,0.72,0.69,0.7,"杂合","未知","预测范围之外的同义突变",null,"乙酰CoA羧化酶缺陷症","AR",613933,4,3,3,1,"ACACA",1,240,"同义",13303,"0.46=95/206",null,31,"17q21","NM_198834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27060",33,33,1,{"$nulls":3},"A有","12307A","ACACB","chr12:109577735","c.525C>T(E1)","p.175,S>S","rs2878960",0.4,0.26,0.23,0.3,0.24,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=51/51",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"]
["12307A(99)v27062",52,52,1,{"$nulls":3},"A有","12307A","ACACB","chr12:109617865","c.1791T>C(E10)","p.597,D>D","rs11065772",0.68,0.74,0.7,0.78,0.77,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=81/81",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"]
["12307A(99)v27061",125,125,1,{"$nulls":3},"A有","12307A","ACACB","chr12:109629457","c.2184C>T(E13)","p.728,G>G","rs7135947",0.38,0.26,0.23,0.3,0.27,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"0.99=259/261",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"]
["12307A(99)v27059",24,24,1,{"$nulls":3},"A有","12307A","ACACB","chr12:109670468","IVS27-6T>C","剪切位点","rs3742027",0.87,0.69,0.7,0.67,null,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"剪切位点",16202,"1.00=40/40",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"]
["12307A(99)v27064",84,84,1,{"$nulls":3},"A有","12307A","ACACB","chr12:109675029","c.4506T>C(E33)","p.1502,L>L","rs2241220",0.78,0.69,0.69,0.68,0.69,0.74,"纯合","无关","有rs号，MAF>=5%","18031993;19846279",{"$nulls":3},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=139/139",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"]
["12307A(99)v27063",91,91,1,{"$nulls":3},"A有","12307A","ACACB","chr12:109696838","c.6421G>A(E46)","p.2141,V>I","rs2075260",0.74,0.69,0.69,0.68,0.71,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"错义",12220,"0.99=175/176",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"]
["12307A(99)v22819",35,19,0.54,{"$nulls":3},"A有","12307A","ACAD10","chr12:112130708","IVS2+8A>G","非编码区","rs7132509",0.2,0.59,0.61,0.57,null,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,150,"非编码区",16203,"0.61=31/51",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"]
["12307A(99)v22818",7,2,0.29,{"$nulls":3},"A有","12307A","ACAD10","chr12:112191641","c.2976G>A(E20)","p.992,A>A","rs2074055",0.2,0.59,0.61,0.57,0.52,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,150,"同义",13203,"0.21=3/14",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"]
["12307A(99)v959",192,192,1,{"$nulls":3},"A有","12307A","ACAD11","chr3:132360883","c.470C>T(E4)","p.157,R>H","rs821572",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACAD11",1,290,"错义",12230,"0.99=335/337",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"]
["12307A(99)v30095",61,36,0.59,{"$nulls":3},"A有","12307A","ACAD9","chr3:128614185","c.379A>C(E4)","p.127,R>R","rs1680778",0.54,0.65,0.67,0.64,0.58,0.66,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,3,1,"ACAD9",1,120,"同义",13203,"0.58=61/105",null,28976,"3q21.3","NM_014049.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30096",19,9,0.47,{"$nulls":3},"A有","12307A","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",1,120,"剪切位点",16202,"0.42=14/33",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"]
["12307A(99)v30097",23,6,0.26,{"$nulls":3},"A有","12307A","ACAD9","chr3:128627933","c.1476C>T(E14)","p.492,P>P","rs876755",0.31,0.58,0.61,0.54,0.5,0.58,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,3,1,"ACAD9",1,120,"同义",13203,"0.30=11/37",null,28976,"3q21.3","NM_014049.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13744",7,5,0.71,{"$nulls":3},"A有","12307A","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",201470,5,3,1,1,"ACADS",0.96,29,"同义",13203,"0.76=13/17",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"]
["12307A(99)v14159",5,3,0.6,{"$nulls":3},"A有","12307A","ACADSB","chr10:124813543","m.1678C>T(E11)","非编码区","rs12248515",0.44,0.65,0.59,0.7,null,null,"杂合","无关","有rs号，MAF>=5%",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,3,1,1,"ACADSB",0.97,270,"非编码区",14200,"0.60=3/5",null,36,"10q26.13","NM_001609.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17205",30,30,1,{"$nulls":3},"A有","12307A","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",0.94,71,"剪切位点",16201,"1.00=36/36",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"]
["12307A(99)v9779",75,47,0.63,{"$nulls":3},"A有","12307A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,89,"同义",13203,"0.62=80/130",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9779",75,47,0.63,{"$nulls":3},"A有","12307A","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",1,89,"同义",13203,"0.62=80/130",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"]
["12307A(99)v9779",75,47,0.63,{"$nulls":3},"A有","12307A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,89,"同义",13203,"0.62=80/130",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9784",9,9,1,{"$nulls":3},"A有","12307A","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",1,89,"同义",13203,"1.00=16/16",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"]
["12307A(99)v9784",9,9,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89392745","c.1809T>C(E10)","p.603,A>A","rs1568116",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,89,"同义",13203,"1.00=16/16",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9784",9,9,1,{"$nulls":3},"A有","12307A","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",1,89,"同义",13203,"1.00=16/16",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"]
["12307A(99)v9786",12,6,0.5,{"$nulls":3},"A有","12307A","ACAN","chr15:89392775","c.1839C>T(E10)","p.613,A>A","rs188044698",0.0008,0.0048,0,0.0097,0.01,0.0084,"杂合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,12,3,"ACAN",1,89,"同义",13103,"0.58=11/19",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9786",12,6,0.5,{"$nulls":3},"A有","12307A","ACAN","chr15:89392775","c.1839C>T(E10)","p.613,A>A","rs188044698",0.0008,0.0048,0,0.0097,0.01,0.0084,"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",1,89,"同义",13103,"0.58=11/19",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"]
["12307A(99)v9786",12,6,0.5,{"$nulls":3},"A有","12307A","ACAN","chr15:89392775","c.1839C>T(E10)","p.613,A>A","rs188044698",0.0008,0.0048,0,0.0097,0.01,0.0084,"杂合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,2,12,3,"ACAN",1,89,"同义",13103,"0.58=11/19",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9788",89,89,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"纯合","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",1,89,"同义",13303,"1.00=155/155",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"]
["12307A(99)v9788",89,89,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"纯合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,12,3,"ACAN",1,89,"同义",13303,"1.00=155/155",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9788",89,89,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"纯合","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,612813,4,1,12,3,"ACAN",1,89,"同义",13303,"1.00=155/155",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"]
["12307A(99)v9783",30,14,0.47,{"$nulls":3},"A有","12307A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,89,"错义",12210,"0.52=22/42",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9783",30,14,0.47,{"$nulls":3},"A有","12307A","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",1,89,"错义",12210,"0.52=22/42",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"]
["12307A(99)v9783",30,14,0.47,{"$nulls":3},"A有","12307A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,89,"错义",12210,"0.52=22/42",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9782",81,37,0.46,{"$nulls":3},"A有","12307A","ACAN","chr15:89398763","c.2947G>C(E12)","p.983,E>Q","rs145274175",0.0008,0.0048,0,0.0097,0.011,0.0072,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,3,1,12,3,"ACAN",1,89,"错义",12120,"0.49=76/156",null,176,"15q26.1","NM_001135.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9782",81,37,0.46,{"$nulls":3},"A有","12307A","ACAN","chr15:89398763","c.2947G>C(E12)","p.983,E>Q","rs145274175",0.0008,0.0048,0,0.0097,0.011,0.0072,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Kimberley型脊椎骨骺发育不良","AD",608361,3,1,12,3,"ACAN",1,89,"错义",12120,"0.49=76/156",null,176,"15q26.1","NM_001135.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9782",81,37,0.46,{"$nulls":3},"A有","12307A","ACAN","chr15:89398763","c.2947G>C(E12)","p.983,E>Q","rs145274175",0.0008,0.0048,0,0.0097,0.011,0.0072,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,3,2,12,3,"ACAN",1,89,"错义",12120,"0.49=76/156",null,176,"15q26.1","NM_001135.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9790",61,25,0.41,{"$nulls":3},"A有","12307A","ACAN","chr15:89398820","c.3004G>C(E12)","p.1002,E>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,3,1,12,3,"ACAN",1,89,"错义",12420,"0.42=42/99",null,176,"15q26.1","NM_001135.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9790",61,25,0.41,{"$nulls":3},"A有","12307A","ACAN","chr15:89398820","c.3004G>C(E12)","p.1002,E>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Kimberley型脊椎骨骺发育不良","AD",608361,3,1,12,3,"ACAN",1,89,"错义",12420,"0.42=42/99",null,176,"15q26.1","NM_001135.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9790",61,25,0.41,{"$nulls":3},"A有","12307A","ACAN","chr15:89398820","c.3004G>C(E12)","p.1002,E>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,3,2,12,3,"ACAN",1,89,"错义",12420,"0.42=42/99",null,176,"15q26.1","NM_001135.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9780",39,39,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"纯合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,89,"错义",12220,"1.00=58/58",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9780",39,39,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"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",1,89,"错义",12220,"1.00=58/58",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"]
["12307A(99)v9780",39,39,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,12,3,"ACAN",1,89,"错义",12220,"1.00=58/58",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9789",34,15,0.44,{"$nulls":3},"A有","12307A","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",1,89,"同义",13203,"0.36=19/53",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"]
["12307A(99)v9789",34,15,0.44,{"$nulls":3},"A有","12307A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,89,"同义",13203,"0.36=19/53",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9789",34,15,0.44,{"$nulls":3},"A有","12307A","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",1,89,"同义",13203,"0.36=19/53",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"]
["12307A(99)v9781",72,25,0.35,{"$nulls":3},"A有","12307A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,89,"错义",12220,"0.34=44/129",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9781",72,25,0.35,{"$nulls":3},"A有","12307A","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",1,89,"错义",12220,"0.34=44/129",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"]
["12307A(99)v9781",72,25,0.35,{"$nulls":3},"A有","12307A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,89,"错义",12220,"0.34=44/129",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9785",35,35,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"纯合","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",1,89,"同义",13203,"1.00=44/44",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"]
["12307A(99)v9785",35,35,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"纯合","无关","有rs号，MAF>=5%",19180518,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,12,3,"ACAN",1,89,"同义",13203,"1.00=44/44",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9785",35,35,1,{"$nulls":3},"A有","12307A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"纯合","无关","有rs号，MAF>=5%",19180518,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,12,3,"ACAN",1,89,"同义",13203,"1.00=44/44",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"]
["12307A(99)v9787",20,5,0.25,{"$nulls":3},"A有","12307A","ACAN","chr15:89417238","c.7499A>G(E17)","p.2500,Q>R","rs1126823",0.41,0.26,0.27,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,12,3,"ACAN",1,89,"错义",12220,"0.23=7/31",null,176,"15q26.1","NM_013227.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9787",20,5,0.25,{"$nulls":3},"A有","12307A","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",1,89,"错义",12220,"0.23=7/31",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"]
["12307A(99)v9787",20,5,0.25,{"$nulls":3},"A有","12307A","ACAN","chr15:89417238","c.7499A>G(E17)","p.2500,Q>R","rs1126823",0.41,0.26,0.27,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,12,3,"ACAN",1,89,"错义",12220,"0.23=7/31",null,176,"15q26.1","NM_013227.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3137",4,2,0.5,{"$nulls":3},"A有","12307A","ACAP2","chr3:194999846-194999846","m.2789(E23):缺失T","非编码区","rs149109156",0.034,0.0096,0.0095,0.0097,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ACAP2",1,320,"非编码区",2410,"0.50=2/4",null,23527,"3q29","NM_012287.5","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12307A(99)v3136",71,71,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ACAP2",1,320,"非编码区",14200,"0.99=113/114",null,23527,"3q29","NM_012287.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17175",3,2,0.67,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ACAP3",0.84,14,"同义",13203,"0.75=3/4",null,116983,"-","NM_030649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17172",35,34,0.97,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ACAP3",0.84,14,"剪切位点",16202,"0.98=47/48",null,116983,"-","NM_030649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30396",126,126,1,{"$nulls":3},"A有","12307A","ACAT2","chr6:160198359","c.783C>T(E7)","p.261,V>V","rs3464",0.26,0.43,0.42,0.43,0.42,0.39,"纯合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,1,3,1,"ACAT2",1,170,"同义",13203,"1.00=216/216",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"]
["12307A(99)v30394",93,93,1,{"$nulls":3},"A有","12307A","ACAT2","chr6:160199687","IVS8-4T>C","剪切位点","rs15982",0.68,0.57,0.57,0.56,null,0.58,"纯合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,1,3,1,"ACAT2",1,170,"剪切位点",16202,"1.00=163/163",null,39,"6q25.3","NM_005891.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30395",75,75,1,{"$nulls":3},"A有","12307A","ACAT2","chr6:160200026","m.1490A>C(E9)","非编码区","rs4832",0.26,0.43,0.42,0.43,null,0.4,"纯合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,1,3,1,"ACAT2",1,170,"非编码区",14200,"1.00=112/112",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"]
["12307A(99)v4460",155,75,0.48,{"$nulls":3},"A有","12307A","ACBD5","chr10:27508758","c.414T>C(E6)","p.138,P>P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACBD5",1,250,"同义",13203,"0.46=141/306",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"]
["12307A(99)v4458",24,15,0.62,{"$nulls":3},"A有","12307A","ACBD5","chr10:27529549","m.260C>A(E1)","非编码区","rs2797078",0.68,0.51,0.48,0.54,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACBD5",1,250,"非编码区",14200,"0.66=23/35",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"]
["12307A(99)v4459",26,26,1,{"$nulls":3},"A有","12307A","ACBD5","chr10:27529565","m.244T>C(E1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACBD5",1,250,"非编码区",14200,"1.00=40/40",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"]
["12307A(99)v4950",68,32,0.47,{"$nulls":3},"A有","12307A","ACCS","chr11:44089352","c.175G>A(E2)","p.59,D>N","rs33952257",0.27,0.36,0.35,0.37,0.37,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACCS",1,96,"错义",12220,"0.49=60/122",null,84680,"11p11","NM_001127219.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4949",118,118,1,{"$nulls":3},"A有","12307A","ACCS","chr11:44096238","IVS5+7G>A","非编码区","rs178521",0.77,0.94,0.95,0.94,0.94,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACCS",1,96,"非编码区",16203,"1.00=224/225",null,84680,"11p11","NM_001127219.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4952",79,39,0.49,{"$nulls":3},"A有","12307A","ACCS","chr11:44101118","c.871C>T(E10)","p.291,L>L","rs7950395",0.11,0.089,0.12,0.058,0.076,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACCS",1,96,"同义",13203,"0.51=59/115",null,84680,"11p11","NM_001127219.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4951",52,51,0.98,{"$nulls":3},"A有","12307A","ACCS","chr11:44104981","c.1262C>T(E14)","p.421,P>L","rs3107275",0.4,0.53,0.54,0.51,0.49,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACCS",1,96,"错义",12210,"0.99=85/86",null,84680,"11p11","NM_001127219.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27536",70,70,1,{"$nulls":3},"A有","12307A","ACCSL","chr11:44080210","c.1585T>C(E13)","p.529,C>R","rs2074051",0.79,0.87,0.87,0.88,0.86,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACCSL",1,140,"错义",12220,"1.00=108/108",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"]
["12307A(99)v25387",253,112,0.44,{"$nulls":3},"A有","12307A","ACE2","chrX:15610348","IVS4+4C>T","剪切位点","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ACE2",1,350,"剪切位点",16302,"0.44=195/440",null,59272,"Xp22","NM_021804.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1887",281,280,1,{"$nulls":3},"A有","12307A","ACER3","chr11:76637651","c.154G>A(E2)","p.52,V>I","rs4379869",0.63,0.6,0.57,0.63,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACER3",1,320,"错义",12220,"1.00=580/582",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"]
["12307A(99)v1886",270,270,1,{"$nulls":3},"A有","12307A","ACER3","chr11:76637680","c.183G>A(E2)","p.61,K>K","rs4479014",0.5,0.6,0.57,0.63,0.63,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACER3",1,320,"同义",13203,"1.00=561/561",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"]
["12307A(99)v1885",175,175,1,{"$nulls":3},"A有","12307A","ACER3","chr11:76701606","c.426G>A(E6)","p.142,P>P","rs3740767",0.53,0.66,0.64,0.67,0.67,0.67,"纯合","无关","有rs号，MAF>=5%",19586928,{"$nulls":3},5,null,3,0,"ACER3",1,320,"同义",13203,"0.99=343/345",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"]
["12307A(99)v30794",60,12,0.2,{"$nulls":3},"A有","12307A","ACIN1","chr14:23548783-23548784","c.1935(E6)至c.1934(E6):插入GAACGT","插入非移码","rs148403158",0.39,0.43,0.45,0.41,0.048,0.43,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ACIN1",1,110,"插入非移码",2222,"0.22=14/64",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"]
["12307A(99)v30789",69,35,0.51,{"$nulls":3},"A有","12307A","ACIN1","chr14:23548929","c.1789C>T(E6)","p.597,D>N","rs562966424",0.0002,0,0,0,null,1E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"ACIN1",1,110,"错义",12120,"0.47=48/102",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"]
["12307A(99)v30792",45,23,0.51,{"$nulls":3},"A有","12307A","ACIN1","chr14:23549285","c.1433G>A(E6)","p.478,S>F","rs3751501",0.052,0.13,0.13,0.12,0.099,0.12,"杂合","无关","有rs号，MAF>=5%",19139070,{"$nulls":3},5,null,8,0,"ACIN1",1,110,"错义",12220,"0.49=36/74",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"]
["12307A(99)v30788",41,20,0.49,{"$nulls":3},"A有","12307A","ACIN1","chr14:23549319","c.1399A>G(E6)","p.467,S>P","rs1885097",0.43,0.39,0.4,0.38,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,110,"错义",12220,"0.45=33/73",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"]
["12307A(99)v30791",35,35,1,{"$nulls":3},"A有","12307A","ACIN1","chr14:23549379","c.1339C>G(E6)","p.447,A>P","rs941719",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,110,"错义",12230,"1.00=55/55",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"]
["12307A(99)v30793",36,22,0.61,{"$nulls":3},"A有","12307A","ACIN1","chr14:23549383","c.1335G>T(E6)","p.445,A>A","rs45510791",0.052,0.13,0.13,0.12,0.1,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,110,"同义",13203,"0.56=31/55",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"]
["12307A(99)v30790",121,57,0.47,{"$nulls":3},"A有","12307A","ACIN1","chr14:23549785","c.933T>C(E6)","p.311,I>M","rs3811182",0.5,0.46,0.49,0.44,0.45,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,110,"错义",12220,"0.46=102/220",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"]
["12307A(99)v30795",113,25,0.22,{"$nulls":3},"A有","12307A","ACIN1","chr14:23549879-23549881","c.839(E6)至c.837(E6):缺失TCC","缺失非移码","rs3841035",0.11,0.2,0.21,0.18,0.0089,null,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ACIN1",1,110,"缺失非移码",2222,"0.20=25/122",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"]
["12307A(99)v17480",75,75,1,{"$nulls":3},"A有","12307A","ACLY","chr17:40024023","m.3509A>T(E29)","非编码区","rs7217218",0.92,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACLY",1,120,"非编码区",14200,"1.00=113/113",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"]
["12307A(99)v17479",57,57,1,{"$nulls":3},"A有","12307A","ACLY","chr17:40048613","c.1689A>G(E16)","p.563,H>H","rs8065502",0.9,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACLY",1,120,"同义",13203,"1.00=102/102",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"]
["12307A(99)v31084",4,4,1,{"$nulls":3},"A有","12307A","ACN9","chr7:96810729","m.1711G>A(E2)","非编码区","rs13475",0.56,0.52,0.51,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACN9",1,240,"非编码区",14200,"1.00=4/4",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"]
["12307A(99)v13371",94,94,1,{"$nulls":3},"A有","12307A","ACO1","chr9:32425910","c.1263A>G(E11)","p.421,E>E","rs3780473",0.35,0.58,0.57,0.59,0.51,0.54,"纯合","无关","有rs号，MAF>=5%","18755042;20403199",{"$nulls":3},5,null,2,0,"ACO1",1,230,"同义",13203,"1.00=175/175",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"]
["12307A(99)v13370",20,20,1,{"$nulls":3},"A有","12307A","ACO1","chr9:32450187","m.2903T>C(E21)","非编码区","rs12985",0.4,0.54,0.53,0.54,null,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACO1",1,230,"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"]
["12307A(99)v951",10,2,0.2,{"$nulls":3},"A有","12307A","ACO2","chr22:41903813","c.192A>C(E3)","p.64,T>T","rs137831",0.42,0.6,0.62,0.57,0.46,0.55,"杂合","无关","有rs号，MAF>=5%",null,"婴儿大脑-视网膜退化症","AR",614559,5,3,1,1,"ACO2",1,77,"同义",13203,"0.20=3/15",null,50,"22q13.2","NM_001098.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2390",2,2,1,{"$nulls":3},"A有","12307A","ACOT11","chr1:55060251","c.494C>T(E6)","p.165,P>L","rs2304306",0.081,0.19,0.16,0.22,0.16,0.18,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,49,"错义",12210,"1.00=3/3",null,26027,"1p32.3","NM_015547.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2388",20,11,0.55,{"$nulls":3},"A有","12307A","ACOT11","chr1:55062960","c.636G>A(E7)","p.212,M>I","rs2304305",0.03,0.091,0.1,0.083,0.095,0.13,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"ACOT11",0.98,49,"错义",12120,"0.44=15/34",null,26027,"1p32.3","NM_015547.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2385",13,5,0.38,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,49,"错义",12220,"0.45=10/22",null,26027,"1p32.3","NM_015547.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2387",69,31,0.45,{"$nulls":3},"A有","12307A","ACOT11","chr1:55074705","c.1705T>A(E16)","p.569,F>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,6,0,"ACOT11",0.98,49,"错义",12420,"0.41=51/123",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"]
["12307A(99)v2389",17,11,0.65,{"$nulls":3},"A有","12307A","ACOT11","chr1:55075062","m.2238C>T(E16)","非编码区","rs2289015",0.08,0.18,0.14,0.22,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,49,"非编码区",14200,"0.59=20/34",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"]
["12307A(99)v2386",19,11,0.58,{"$nulls":3},"A有","12307A","ACOT11","chr1:55075993","m.3169G>A(E16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACOT11",0.98,49,"非编码区",14200,"0.62=16/26",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"]
["12307A(99)v10302",9,7,0.78,{"$nulls":3},"A有","12307A","ACOT13","chr6:24667323","m.61C>T(E1)","非编码区","rs17243157",0.11,0.062,0.048,0.078,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,260,"非编码区",14200,"0.80=8/10",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"]
["12307A(99)v10301",77,37,0.48,{"$nulls":3},"A有","12307A","ACOT13","chr6:24687765","m.443A>G(E2)","非编码区","rs926529",0.8,0.87,0.88,0.85,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,260,"非编码区",14200,"0.50=59/118",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"]
["12307A(99)v1028",17,17,1,{"$nulls":3},"A有","12307A","ACOT2","chr14:74041748","c.983A>G(E3)","p.328,H>R","rs149033118",{"$nulls":4},0.86,0.93,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ACOT2",0.86,82,"错义",12310,"1.00=20/20",null,10965,"14q24.3","NM_006821.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1029",59,59,1,{"$nulls":3},"A有","12307A","ACOT2","chr14:74042189","c.1424A>G(E3)","p.475,H>R","rs7494",{"$nulls":4},0.76,0.8,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACOT2",0.86,82,"错义",12320,"1.00=96/96",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"]
["12307A(99)v23448",75,75,1,{"$nulls":3},"A有","12307A","ACOT4","chr14:74061968","c.876T>C(E3)","p.292,I>I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACOT4",1,110,"同义",13203,"1.00=122/122",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"]
["12307A(99)v10108",77,38,0.49,{"$nulls":3},"A有","12307A","ACOT6","chr14:74083846","m.299C>T(E1)","非编码区","rs12891009",0.46,0.65,0.64,0.66,0.64,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT6",1,150,"非编码区",14200,"0.49=68/138",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"]
["12307A(99)v10107",85,43,0.51,{"$nulls":3},"A有","12307A","ACOT6","chr14:74083901","IVS1+5G>A","剪切位点","rs17128948",0.16,0.2,0.21,0.18,0.19,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT6",1,150,"剪切位点",16201,"0.48=72/149",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"]
["12307A(99)v12630",55,55,1,{"$nulls":3},"A有","12307A","ACOX1","chr17:73949540","c.822G>C(E7)","p.274,I>M","rs1135640",0.55,0.79,0.82,0.77,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,5,1,1,1,"ACOX1",1,180,"错义",12220,"1.00=82/82",null,51,"17q25.1","NM_001185039.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7693",26,7,0.27,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"同义",13203,"0.22=8/37",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7694",28,13,0.46,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"同义",13203,"0.52=25/48",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7695",50,50,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"非编码区",14200,"1.00=105/105",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17902",46,20,0.43,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ACOX3",0.97,110,"非编码区",14200,"0.43=29/68",null,8310,"4p15.3","NM_001101667.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19174",106,50,0.47,{"$nulls":3},"A有","12307A","ACOXL","chr2:111551298","c.231G>T(E4)","p.77,W>C",{"$nulls":6},1.2E-4,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ACOXL",1,170,"错义",12410,"0.43=84/197",null,55289,"2q13","NM_001142807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19176",146,76,0.52,{"$nulls":3},"A有","12307A","ACOXL","chr2:111598958","c.764C>T(E10)","p.255,T>M","rs1554005",0.18,0.15,0.17,0.13,0.14,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,170,"错义",12210,"0.54=138/255",null,55289,"2q13","NM_001142807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19175",142,69,0.49,{"$nulls":3},"A有","12307A","ACOXL","chr2:111850515","c.1514C>T(E17)","p.505,P>L","rs17041850",0.074,0.26,0.3,0.22,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOXL",1,170,"错义",12210,"0.46=118/255",null,55289,"2q13","NM_001142807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3144",13,13,1,{"$nulls":3},"A有","12307A","ACP1","chr2:264895","m.27G>C(E1)","非编码区","rs4854300",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACP1",1,220,"非编码区",14200,"1.00=17/17",null,52,"2p25","NM_001040649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12804",44,24,0.55,{"$nulls":3},"A有","12307A","ACP2","chr11:47270255","c.86C>T(E1)","p.29,R>Q","rs2167079",0.52,0.75,0.79,0.71,0.66,0.76,"杂合","无关","有rs号，MAF>=5%","17357082;19060910","酸性磷酸酶缺乏症","AR",200950,5,3,1,1,"ACP2",1,73,"错义",12220,"0.59=49/83",null,53,"11p11.2|11p12-p11","NM_001131064.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11380",71,71,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ACP6",1,170,"错义",12220,"1.00=120/120",null,51205,"1q21","NM_016361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11378",37,37,1,{"$nulls":3},"A有","12307A","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",1,170,"同义",13303,"0.99=71/72",null,51205,"1q21","NM_016361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1684",78,32,0.41,{"$nulls":3},"A有","12307A","ACPL2","chr3:140997320","c.216C>T(E3)","p.72,S>S","rs11556022",0.089,0.06,0.038,0.083,0.066,0.071,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPL2",1,150,"同义",13203,"0.43=55/127",null,92370,"3q23","NM_001037172.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1685",29,11,0.38,{"$nulls":3},"A有","12307A","ACPL2","chr3:141011630","c.1026C>T(E6)","p.342,F>F","rs3210458",0.1,0.13,0.11,0.14,0.091,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPL2",1,150,"同义",13203,"0.38=15/40",null,92370,"3q23","NM_001037172.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21614",113,52,0.46,{"$nulls":3},"A有","12307A","ACPP","chr3:132051116","c.384T>C(E4)","p.128,G>G","rs144823139",3.8E-3,0.022,0.019,0.024,0.017,0.022,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACPP",1,240,"同义",13103,"0.43=90/211",null,55,"3q22.1","NM_001099.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21615",8,8,1,{"$nulls":3},"A有","12307A","ACPP","chr3:132086825","m.1506G>A(E11)","非编码区","rs2198765",0.52,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPP",1,240,"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"]
["12307A(99)v12805",37,37,1,{"$nulls":3},"A有","12307A","ACPT","chr19:51297825","c.973G>A(E9)","p.325,A>T","rs55716643",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPT",0.92,19,"错义",12220,"0.99=73/74",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"]
["12307A(99)v12806",37,37,1,{"$nulls":3},"A有","12307A","ACPT","chr19:51297826","c.974C>A(E9)","p.325,A>D","rs55735528",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPT",0.92,19,"错义",12220,"1.00=72/72",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"]
["12307A(99)v2283",60,28,0.47,{"$nulls":3},"A有","12307A","ACR","chr22:51182485","IVS3-4A>G","剪切位点","rs6009961",0.64,0.4,0.39,0.42,null,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,77,"剪切位点",16202,"0.46=48/105",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"]
["12307A(99)v2282",75,71,0.95,{"$nulls":3},"A有","12307A","ACR","chr22:51183255","c.886A>G(E5)","p.296,M>V","rs5771002",0.73,0.82,0.8,0.84,0.71,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,77,"错义",12220,"0.95=110/116",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"]
["12307A(99)v13209",14,14,1,{"$nulls":3},"A有","12307A","ACRBP","chr12:6747295","m.1833G>A(E10)","非编码区","rs1045553",0.64,0.59,0.59,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACRBP",1,110,"非编码区",14200,"1.00=15/15",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"]
["12307A(99)v13208",38,37,0.97,{"$nulls":3},"A有","12307A","ACRBP","chr12:6747578","IVS9-8G>C","剪切位点","rs1882553",0.68,0.62,0.62,0.62,null,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACRBP",1,110,"剪切位点",16202,"0.98=53/54",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"]
["12307A(99)v20448",166,88,0.53,{"$nulls":3},"A有","12307A","ACRC","chrX:70832741","c.1985C>T(E13)","p.662,T>I","rs2280962",null,0.072,0.082,0.062,0.075,0.056,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ACRC",1,270,"错义",12310,"0.55=167/304",null,93953,"Xq13.1","NM_052957.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8362",129,63,0.49,{"$nulls":3},"A有","12307A","ACSBG2","chr19:6156483","c.428T>C(E5)","p.143,V>A","rs4807840",0.71,0.72,0.75,0.69,0.69,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSBG2",1,170,"错义",12220,"0.43=120/278",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"]
["12307A(99)v2637",16,8,0.5,{"$nulls":3},"A有","12307A","ACSL1","chr4:185678110","m.2444A>G(E21)","非编码区","rs2292899",0.4,0.65,0.66,0.64,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"0.45=10/22",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2634",24,24,1,{"$nulls":3},"A有","12307A","ACSL1","chr4:185678118","m.2436C>G(E21)","非编码区","rs4862413",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"1.00=30/30",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2636",83,83,1,{"$nulls":3},"A有","12307A","ACSL1","chr4:185686032","c.1407C>T(E15)","p.469,L>L","rs2292898",0.83,0.93,0.94,0.92,0.9,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"同义",13203,"1.00=156/156",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2635",51,29,0.57,{"$nulls":3},"A有","12307A","ACSL1","chr4:185687863","c.1176A>G(E13)","p.392,F>F","rs11727009",0.21,0.24,0.23,0.25,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"同义",13203,"0.56=49/88",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24160",140,140,1,{"$nulls":3},"A有","12307A","ACSL3","chr2:223787559","IVS9+10G>A","非编码区","rs11891410",0.9,0.96,0.96,0.96,null,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSL3",1,340,"非编码区",16203,"1.00=239/239",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"]
["12307A(99)v21575",118,117,0.99,{"$nulls":3},"A有","12307A","ACSL5","chr10:114186624","IVS20+7G>A","非编码区","rs2256368",0.96,0.99,0.99,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSL5",1,220,"非编码区",16203,"0.99=203/205",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"]
["12307A(99)v22531",55,55,1,{"$nulls":3},"A有","12307A","ACSM1","chr16:20634775","m.1835T>C(E13)","非编码区","rs3087812",0.35,0.37,0.37,0.36,null,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,160,"非编码区",14200,"0.99=97/98",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"]
["12307A(99)v22533",113,113,1,{"$nulls":3},"A有","12307A","ACSM1","chr16:20638576","c.1362A>T(E10)","p.454,G>G","rs1692729",0.61,0.86,0.83,0.9,0.84,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,160,"同义",13203,"0.99=196/198",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"]
["12307A(99)v22532",90,89,0.99,{"$nulls":3},"A有","12307A","ACSM1","chr16:20648702","c.1188G>A(E8)","p.396,Y>Y","rs151328",0.35,0.37,0.38,0.35,0.38,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACSM1",1,160,"同义",13203,"0.99=180/181",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"]
["12307A(99)v6478",106,85,0.8,{"$nulls":3},"A有","12307A","ACSM2A","chr16:20476852","c.191T>C(E4)","p.64,L>P","rs7187246",0.51,0.73,0.68,0.78,0.65,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,300,"错义",12220,"0.81=136/167",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"]
["12307A(99)v6477",118,47,0.4,{"$nulls":3},"A有","12307A","ACSM2A","chr16:20477004","c.343C>T(E4)","p.115,R>X","rs59261767",0.046,0.21,0.18,0.25,0.17,0.2,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,6,0,"ACSM2A",1,300,"截断",15100,"0.39=74/189",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"]
["12307A(99)v6481",213,174,0.82,{"$nulls":3},"A有","12307A","ACSM2A","chr16:20488696","c.1104A>G(E10)","p.368,L>L","rs1700805",0.48,0.74,0.68,0.81,0.63,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,300,"同义",13203,"0.79=323/407",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"]
["12307A(99)v6476",149,149,1,{"$nulls":3},"A有","12307A","ACSM2A","chr16:20492000","c.1387A>G(E12)","p.463,N>D","rs146233716",0.83,0.77,0.71,0.83,0.87,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,300,"错义",12230,"1.00=205/205",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"]
["12307A(99)v6480",121,58,0.48,{"$nulls":3},"A有","12307A","ACSM2A","chr16:20494408","c.1538C>T(E14)","p.513,S>L","rs1133607",0.14,0.19,0.21,0.16,0.15,0.2,"杂合","无关","有rs号，MAF>=5%",20214591,{"$nulls":3},5,null,6,0,"ACSM2A",1,300,"错义",12210,"0.42=93/222",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"]
["12307A(99)v6479",90,89,0.99,{"$nulls":3},"A有","12307A","ACSM2A","chr16:20498079","m.2052T>G(E15)","非编码区","rs2072080",0.79,0.6,0.63,0.57,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,300,"非编码区",14200,"0.99=132/134",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"]
["12307A(99)v23830",4,4,1,{"$nulls":3},"A有","12307A","ACSM2B","chr16:20548334","m.2155C>T(E14)","非编码区","rs7404298",0.81,0.67,0.72,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"非编码区",14200,"1.00=4/4",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"]
["12307A(99)v23828",133,60,0.45,{"$nulls":3},"A有","12307A","ACSM2B","chr16:20552075","c.1530G>T(E13)","p.510,I>I","rs16970280",0.71,0.47,0.49,0.46,0.48,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"同义",13203,"0.46=117/254",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"]
["12307A(99)v23829",136,66,0.49,{"$nulls":3},"A有","12307A","ACSM2B","chr16:20554248","c.1497G>A(E12)","p.499,P>P","rs140717461",0.099,0.17,0.14,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"同义",13203,"0.46=106/232",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"]
["12307A(99)v23831",193,96,0.5,{"$nulls":3},"A有","12307A","ACSM2B","chr16:20563528","c.832T>C(E6)","p.278,T>A","rs77863699",0.15,0.17,0.14,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"错义",12220,"0.52=198/383",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"]
["12307A(99)v23827",68,68,1,{"$nulls":3},"A有","12307A","ACSM2B","chr16:20570661","c.286T>C(E3)","p.96,I>V","rs8056693",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"错义",12220,"1.00=93/93",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"]
["12307A(99)v23826",242,110,0.45,{"$nulls":3},"A有","12307A","ACSM2B","chr16:20576048","c.120C>A(E2)","p.40,V>V","rs112352583",0.27,0.69,0.7,0.69,0.65,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,310,"同义",13203,"0.47=229/487",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"]
["12307A(99)v16238",87,41,0.47,{"$nulls":3},"A有","12307A","ACSM3","chr16:20792188","IVS5+9T>C","非编码区","rs5715",0.63,0.43,0.46,0.4,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSM3",1,310,"非编码区",16203,"0.48=62/130",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"]
["12307A(99)v16239",197,82,0.42,{"$nulls":3},"A有","12307A","ACSM3","chr16:20796387","c.1101G>C(E8)","p.367,K>N","rs5716",0.093,0.2,0.21,0.18,0.19,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSM3",1,310,"错义",12220,"0.43=167/388",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"]
["12307A(99)v6498",79,40,0.51,{"$nulls":3},"A有","12307A","ACSM4","chr12:7463241","c.519A>T(E3)","p.173,P>P","rs7968241",null,0.39,0.38,0.4,0.41,0.38,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACSM4",1,210,"同义",13303,"0.49=65/133",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"]
["12307A(99)v13824",73,35,0.48,{"$nulls":3},"A有","12307A","ACSM5","chr16:20439199","IVS7+10G>A","非编码区","rs11859961",0.11,0.17,0.17,0.17,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"非编码区",16203,"0.46=64/139",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"]
["12307A(99)v13827",46,21,0.46,{"$nulls":3},"A有","12307A","ACSM5","chr16:20441020","c.1022G>A(E8)","p.341,R>K","rs12932087",0.11,0.17,0.17,0.17,0.18,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"错义",12220,"0.45=30/66",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"]
["12307A(99)v13821",59,31,0.53,{"$nulls":3},"A有","12307A","ACSM5","chr16:20441053","c.1055C>G(E8)","p.352,P>R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"错义",12210,"0.54=49/91",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"]
["12307A(99)v13826",59,25,0.42,{"$nulls":3},"A有","12307A","ACSM5","chr16:20441077","c.1079A>G(E8)","p.360,H>R","rs12931877",0.091,0.15,0.15,0.16,0.15,0.02,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"错义",12220,"0.42=43/102",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"]
["12307A(99)v13823",58,58,1,{"$nulls":3},"A有","12307A","ACSM5","chr16:20441084","c.1086T>C(E8)","p.362,T>T","rs8063682",0.54,0.72,0.67,0.78,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"同义",13203,"1.00=101/101",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"]
["12307A(99)v13822",107,36,0.34,{"$nulls":3},"A有","12307A","ACSM5","chr16:20442653","IVS10+10G>A","非编码区","rs34985819",0.1,0.14,0.15,0.14,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"非编码区",16203,"0.36=64/180",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"]
["12307A(99)v13825",2,2,1,{"$nulls":3},"A有","12307A","ACSM5","chr16:20452097","m.2235T>C(E14)","非编码区","rs12599141",0.5,0.73,0.69,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ACSM5",1,170,"非编码区",14200,"1.00=4/4",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"]
["12307A(99)v6072",7,2,0.29,{"$nulls":3},"A有","12307A","ACSS1","chr20:25038484","c.255G>T(E1)","p.85,T>T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSS1",0.92,77,"同义",13203,"0.30=3/10",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"]
["12307A(99)v1972",63,33,0.52,{"$nulls":3},"A有","12307A","ACSS3","chr12:81627238","c.1707C>T(E13)","p.569,G>G","rs1921038",0.18,0.23,0.25,0.21,0.22,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSS3",0.98,260,"同义",13203,"0.52=55/106",null,79611,"12q21.31","NM_024560.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11824",26,26,1,{"$nulls":3},"A有","12307A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性耳聋20型","AD",604717,5,1,1,2,"ACTG1",1,45,"同义",13203,"1.00=47/47",null,71,"17q25","NM_001199954.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11824",26,26,1,{"$nulls":3},"A有","12307A","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",1,45,"同义",13203,"1.00=47/47",null,71,"17q25","NM_001199954.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14900",8,8,1,{"$nulls":3},"A有","12307A","ACTG2","chr2:74128433","m.117C>T(E2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,null,0.56,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,150,"非编码区",14200,"1.00=12/12",null,72,"2p13.1","NM_001199893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14898",87,86,0.99,{"$nulls":3},"A有","12307A","ACTG2","chr2:74135797","IVS2-3T>C","剪切位点","rs702461",0.58,0.59,0.61,0.57,null,0.49,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,150,"剪切位点",16202,"0.99=142/143",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"]
["12307A(99)v14899",101,101,1,{"$nulls":3},"A有","12307A","ACTG2","chr2:74135898","c.225A>G(E3)","p.75,E>E","rs756128",0.57,0.59,0.61,0.57,0.52,0.49,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,150,"同义",13203,"1.00=185/185",null,72,"2p13.1","NM_001199893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27963",154,154,1,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,1,0,"ACTL6A",1,350,"同义",13303,"1.00=287/287",null,86,"3q26.33","NM_004301.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14093",7,7,1,{"$nulls":3},"A有","12307A","ACTL6B","chr7:100240771","m.1486A>T(E14)","非编码区","rs1052897",0.89,0.91,0.9,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL6B",1,53,"非编码区",14200,"1.00=7/7",null,51412,"7q22","NM_016188.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26508",10,10,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ACTL7A",1,75,"非编码区",14200,"1.00=14/14",null,10881,"9q31","NM_006687.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22147",18,18,1,{"$nulls":3},"A有","12307A","ACTL8","chr1:18149510","c.7G>T(E2)","p.3,A>S","rs694214",0.31,0.41,0.47,0.35,0.36,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL8",1,29,"错义",12220,"1.00=32/32",null,81569,"1p36.2-p35","NM_030812.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22146",25,25,1,{"$nulls":3},"A有","12307A","ACTL8","chr1:18149566","c.63C>A(E2)","p.21,G>G","rs2296035",0.48,0.68,0.7,0.67,0.62,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL8",1,29,"同义",13203,"1.00=48/48",null,81569,"1p36.2-p35","NM_030812.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22145",17,17,1,{"$nulls":3},"A有","12307A","ACTL8","chr1:18152582","c.669C>T(E3)","p.223,D>D","rs478698",0.13,0.19,0.22,0.15,0.18,0.18,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL8",1,29,"同义",13203,"1.00=28/28",null,81569,"1p36.2-p35","NM_030812.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4702",10,3,0.3,{"$nulls":3},"A有","12307A","ACTL9","chr19:8808900","c.152A>G(E1)","p.51,V>A","rs10410943",null,0.85,0.86,0.84,0.8,0.86,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACTL9",0.96,8,"错义",12320,"0.28=5/18",null,284382,"19p13.2","NM_178525.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4701",9,3,0.33,{"$nulls":3},"A有","12307A","ACTL9","chr19:8808942","c.110A>G(E1)","p.37,F>S","rs2340550",0.79,0.85,0.86,0.84,0.79,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTL9",0.96,8,"错义",12220,"0.28=5/18",null,284382,"19p13.2","NM_178525.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19606",102,101,0.99,{"$nulls":3},"A有","12307A","ACTN1","chr14:69378863","IVS4+10A>G","非编码区","rs2070280",0.32,0.63,0.66,0.61,0.66,0.63,"纯合","无关","有rs号，MAF>=5%",null,"血小板型出血性疾病","AD",615193,5,1,1,1,"ACTN1",1,75,"非编码区",16203,"0.98=160/163",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"]
["12307A(99)v5849",12,3,0.25,{"$nulls":3},"A有","12307A","ACTN2","chr1:236849979","c.6C>A(E1)","p.2,N>K",{"$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",1,150,"错义",12420,"0.25=5/20",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"]
["12307A(99)v5848",114,114,1,{"$nulls":3},"A有","12307A","ACTN2","chr1:236882303","c.351T>C(E3)","p.117,I>I","rs1341864",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,150,"同义",13203,"1.00=200/200",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5847",147,147,1,{"$nulls":3},"A有","12307A","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",1,150,"同义",13203,"1.00=250/251",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"]
["12307A(99)v5850",29,29,1,{"$nulls":3},"A有","12307A","ACTN2","chr1:236902594","IVS9-8C>G","剪切位点","rs2288601",0.77,0.77,0.77,0.77,0.81,0.8,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,150,"剪切位点",16201,"0.98=47/48",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5851",9,3,0.33,{"$nulls":3},"A有","12307A","ACTN2","chr1:236926030","m.3000A>G(E21)","非编码区","rs1051251",0.35,0.37,0.35,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,2,5,1,"ACTN2",1,150,"非编码区",14200,"0.40=4/10",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"]
["12307A(99)v8056",82,81,0.99,{"$nulls":3},"A有","12307A","ACTN4","chr19:39196745","c.546C>T(E5)","p.182,N>N","rs3745859",0.34,0.39,0.41,0.37,0.37,0.44,"纯合","无关","有rs号，MAF>=5%",null,"局灶性节段性肾小球硬化症1型",null,603278,5,1,1,1,"ACTN4",0.94,53,"同义",13203,"0.99=144/145",null,81,"19q13","NM_004924.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19954",134,67,0.5,{"$nulls":3},"A有","12307A","ACTR2","chr2:65481008","IVS6+10A>C","非编码区","rs268871",0.79,0.81,0.8,0.82,null,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",1,320,"非编码区",16203,"0.48=137/287",null,10097,"2p14","NM_001005386.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19953",135,71,0.53,{"$nulls":3},"A有","12307A","ACTR2","chr2:65495887","m.1434G>A(E10)","非编码区","rs268875",0.81,0.73,0.72,0.73,null,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",1,320,"非编码区",14200,"0.49=110/226",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19949",14,5,0.36,{"$nulls":3},"A有","12307A","ACTR2","chr2:65496018","m.1565C>G(E10)","非编码区","rs11424",0.4,0.74,0.74,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",1,320,"非编码区",14200,"0.39=7/18",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19948",8,5,0.62,{"$nulls":3},"A有","12307A","ACTR2","chr2:65496058","m.1605A>G(E10)","非编码区","rs17038564",0.11,0.2,0.2,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",1,320,"非编码区",14200,"0.67=6/9",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19952",5,3,0.6,{"$nulls":3},"A有","12307A","ACTR2","chr2:65496144","m.1691A>G(E10)","非编码区","rs190577",0.81,0.8,0.79,0.81,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",1,320,"非编码区",14200,"0.55=6/11",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19951",3,2,0.67,{"$nulls":3},"A有","12307A","ACTR2","chr2:65496187","m.1734G>A(E10)","非编码区","rs12560",0.4,0.74,0.74,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACTR2",1,320,"非编码区",14200,"0.83=5/6",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12093",173,83,0.48,{"$nulls":3},"A有","12307A","ACTR3C","chr7:149981916","c.490T>C(E6)","p.164,M>V","rs116882544",0.0078,0.019,0.019,0.019,0.026,0.021,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ACTR3C",1,420,"错义",12120,"0.50=163/328",null,653857,"7q36.1","NM_001164458.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16859",125,58,0.46,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,110,"错义",12220,"0.46=105/226",null,79913,"20q11.23","NM_024855.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16858",7,4,0.57,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,110,"非编码区",14200,"0.44=4/9",null,79913,"20q11.23","NM_024855.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16860",7,4,0.57,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,3,0,"ACTR5",0.79,110,"非编码区",14100,"0.44=4/9",null,79913,"20q11.23","NM_024855.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16172",79,79,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ACTR8",1,220,"同义",13203,"1.00=134/134",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16169",122,122,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ACTR8",1,220,"同义",13203,"1.00=210/210",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16171",63,25,0.4,{"$nulls":3},"A有","12307A","ACTR8","chr3:53911783","IVS3-5A>G","剪切位点","rs2276842",0.14,0.21,0.21,0.21,null,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,220,"剪切位点",16202,"0.41=43/105",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16168",106,39,0.37,{"$nulls":3},"A有","12307A","ACTR8","chr3:53914093","c.167G>A(E2)","p.56,T>I","rs3733082",0.11,0.094,0.1,0.087,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,220,"错义",12220,"0.41=72/176",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16170",46,25,0.54,{"$nulls":3},"A有","12307A","ACTR8","chr3:53916130","m.100A>G(E1)","非编码区","rs2276845",0.37,0.5,0.48,0.53,null,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR8",1,220,"非编码区",14200,"0.50=45/90",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26303",40,14,0.35,{"$nulls":3},"A有","12307A","ACTRT2","chr1:2938265","c.15C>T(E1)","p.5,H>H","rs4576609",0.2,0.45,0.43,0.48,0.45,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTRT2",1,39,"同义",13203,"0.39=24/62",null,140625,"1p36.32","NM_080431.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26304",35,18,0.51,{"$nulls":3},"A有","12307A","ACTRT2","chr1:2938697","c.447T>G(E1)","p.149,S>S","rs3795262",0.21,0.45,0.43,0.48,0.39,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTRT2",1,39,"同义",13203,"0.54=29/54",null,140625,"1p36.32","NM_080431.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26306",8,4,0.5,{"$nulls":3},"A有","12307A","ACTRT2","chr1:2938989","c.739G>A(E1)","p.247,G>R","rs3795263",0.12,0.13,0.14,0.12,0.11,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTRT2",1,39,"错义",12210,"0.47=7/15",null,140625,"1p36.32","NM_080431.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26305",25,11,0.44,{"$nulls":3},"A有","12307A","ACTRT2","chr1:2939409","m.1364G>T(E1)","非编码区","rs12564513",0.078,0.22,0.23,0.21,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTRT2",1,39,"非编码区",14200,"0.45=22/49",null,140625,"1p36.32","NM_080431.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1621",55,22,0.4,{"$nulls":3},"A有","12307A","ACTRT3","chr3:169486144","IVS1-6A>G","剪切位点","rs9822885",0.43,0.7,0.68,0.72,null,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTRT3",1,170,"剪切位点",16202,"0.47=41/88",null,84517,"3q26.2","NM_032487.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10805",154,153,0.99,{"$nulls":3},"A有","12307A","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",135100,5,1,2,1,"ACVR1",1,240,"同义",13203,"1.00=275/276",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"]
["12307A(99)v10804",49,49,1,{"$nulls":3},"A有","12307A","ACVR1","chr2:158636910","c.270G>A(E4)","p.90,A>A","rs2227861",0.65,0.91,0.91,0.91,0.9,0.93,"纯合","无关","有rs号，MAF>=5%","18781190;19299629","进行性骨化性纤维发育不良","AD",135100,5,1,2,1,"ACVR1",1,240,"同义",13203,"1.00=67/67",null,90,"2q23-q24","NM_001105.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21416",213,213,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ACVR1C",0.95,250,"剪切位点",16202,"1.00=375/376",null,130399,"2q24.1","NM_001111031.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21415",122,122,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,2,0,"ACVR1C",0.95,250,"同义",13203,"1.00=230/231",null,130399,"2q24.1","NM_001111032.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9019",170,76,0.45,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,1,0,"ACVR2A",1,280,"同义",13203,"0.45=139/307",null,92,"2q22.3","NM_001616.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23001",52,26,0.5,{"$nulls":3},"A有","12307A","ACVR2B","chr3:38519424","c.333A>G(E3)","p.111,E>E","rs2070489",0.48,0.45,0.46,0.44,0.42,0.47,"杂合","无关","有rs号，MAF>=5%",null,"常染色体遗传的内脏异位4型",null,613751,5,2,2,1,"ACVR2B",0.97,83,"同义",13203,"0.53=47/89",null,93,"3p22","NM_001106.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23003",52,28,0.54,{"$nulls":3},"A有","12307A","ACVR2B","chr3:38524742","c.1458C>T(E11)","p.486,N>N","rs1046048",0.35,0.26,0.28,0.24,0.24,0.28,"杂合","无关","有rs号，MAF>=5%",null,"常染色体遗传的内脏异位4型",null,613751,5,2,2,1,"ACVR2B",0.97,83,"同义",13203,"0.51=46/90",null,93,"3p22","NM_001106.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19942",3,3,1,{"$nulls":3},"A有","12307A","ACY3","chr11:67414492","c.23C>T(E3)","p.8,R>Q","rs948445",0.72,0.78,0.79,0.78,0.54,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACY3",1,43,"错义",12220,"1.00=5/5",null,91703,"11q13.2","NM_080658.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13923",82,50,0.61,{"$nulls":3},"A有","12307A","ACYP1","chr14:75520065","m.470T>C(E3)","非编码区","rs7303",0.5,0.83,0.82,0.83,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACYP1",1,220,"非编码区",14200,"0.64=82/128",null,97,"14q24.3","NM_001107.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13734",84,84,1,{"$nulls":3},"A有","12307A","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",0.97,110,"剪切位点",13202,"1.00=153/153",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"]
["12307A(99)v7244",57,28,0.49,{"$nulls":3},"A有","12307A","ADAD2","chr16:84227713","c.520C>T(E2)","p.174,R>C","rs78344060",0.038,0.075,0.071,0.078,0.067,0.078,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"ADAD2",0.82,15,"错义",12120,"0.41=43/104",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"]
["12307A(99)v7243",2,2,1,{"$nulls":3},"A有","12307A","ADAD2","chr16:84229436","c.1068G>A(E7)","p.356,S>S","rs62049905",0.31,0.27,0.22,0.33,0.24,0.26,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.82,15,"同义",13203,"1.00=3/3",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"]
["12307A(99)v7242",5,5,1,{"$nulls":3},"A有","12307A","ADAD2","chr16:84229559","c.1191T>C(E7)","p.397,S>S","rs2303238",0.81,0.71,0.69,0.73,0.58,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.82,15,"同义",13203,"1.00=10/10",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"]
["12307A(99)v7241",6,3,0.5,{"$nulls":3},"A有","12307A","ADAD2","chr16:84229580","c.1212C>T(E7)","p.404,A>A","rs2303239",0.29,0.3,0.25,0.34,0.23,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.82,15,"同义",13203,"0.45=5/11",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"]
["12307A(99)v7245",7,5,0.71,{"$nulls":3},"A有","12307A","ADAD2","chr16:84230376","IVS9+3T>C","剪切位点","rs2303242",0.58,0.46,0.49,0.43,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAD2",0.82,15,"剪切位点",16201,"0.78=7/9",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"]
["12307A(99)v29007",116,115,0.99,{"$nulls":3},"A有","12307A","ADAL","chr15:43632549","c.342T>C(E6)","p.114,T>T","rs2278857",0.54,0.5,0.48,0.53,0.44,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAL",1,270,"剪切位点",13202,"0.99=202/204",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"]
["12307A(99)v11776",2,2,1,{"$nulls":3},"A有","12307A","ADAM11","chr17:42851729","c.1059C>T(E12)","p.353,H>H","rs35936481",0.65,0.78,0.77,0.79,0.64,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"1.00=2/2",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"]
["12307A(99)v11780",13,12,0.92,{"$nulls":3},"A有","12307A","ADAM11","chr17:42852604","c.1245G>T(E15)","p.415,S>S","rs1558083",0.65,0.77,0.76,0.79,0.77,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"0.93=27/29",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"]
["12307A(99)v11778",15,15,1,{"$nulls":3},"A有","12307A","ADAM11","chr17:42852610","c.1251T>C(E15)","p.417,C>C","rs1558084",0.9,0.87,0.87,0.87,0.83,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"1.00=31/31",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"]
["12307A(99)v11779",16,16,1,{"$nulls":3},"A有","12307A","ADAM11","chr17:42854610","c.1758T>C(E21)","p.586,S>S","rs8075210",0.65,0.77,0.76,0.79,0.74,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"1.00=28/28",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"]
["12307A(99)v11777",23,23,1,{"$nulls":3},"A有","12307A","ADAM11","chr17:42855554","c.2220T>C(E25)","p.740,I>I","rs2070605",0.65,0.77,0.76,0.79,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.99,34,"同义",13203,"1.00=36/36",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"]
["12307A(99)v23972",113,61,0.54,{"$nulls":3},"A有","12307A","ADAM12","chr10:127705801","m.3190G>A(E23)","非编码区","rs61863598",0.0002,0.0024,0,0.0049,null,1.8E-3,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ADAM12",0.97,160,"非编码区",14100,"0.52=102/196",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"]
["12307A(99)v23974",45,17,0.38,{"$nulls":3},"A有","12307A","ADAM12","chr10:127724778","c.2475A>G(E21)","p.825,A>A","rs1044122",0.27,0.45,0.47,0.44,0.38,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM12",0.97,160,"同义",13203,"0.33=25/76",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"]
["12307A(99)v23976",94,41,0.44,{"$nulls":3},"A有","12307A","ADAM12","chr10:127727913","c.2199G>A(E19)","p.733,T>T","rs56651369",0.014,0.077,0.062,0.092,0.11,0.09,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ADAM12",0.97,160,"同义",13103,"0.42=69/163",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"]
["12307A(99)v23975",24,10,0.42,{"$nulls":3},"A有","12307A","ADAM12","chr10:127730728","c.2190C>T(E19)","p.730,A>A","rs34265990",0.18,0.31,0.27,0.34,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM12",0.97,160,"同义",13203,"0.37=16/43",null,8038,"10q26.3","NM_021641.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23973",180,94,0.52,{"$nulls":3},"A有","12307A","ADAM12","chr10:128019025","c.142C>G(E2)","p.48,G>R","rs3740199",null,0.47,0.44,0.5,0.5,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害","16385451;19268722;23491141",{"$nulls":3},3,null,5,0,"ADAM12",0.97,160,"错义",12320,"0.52=163/311",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"]
["12307A(99)v31549",23,23,1,{"$nulls":3},"A有","12307A","ADAM15","chr1:155026942","c.602A>C(E6)","p.201,K>T","rs6427128",0.9,1,1,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM15",1,49,"错义",12220,"1.00=31/31",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"]
["12307A(99)v24458",101,53,0.52,{"$nulls":3},"A有","12307A","ADAM19","chr5:156916167","c.2268G>A(E20)","p.756,S>S",{"$nulls":6},1E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ADAM19",1,120,"同义",13403,"0.53=98/185",null,8728,"5q33.3","NM_033274.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15368",80,38,0.47,{"$nulls":3},"A有","12307A","ADAM20","chr14:70989762","c.1863T>C(E2)","p.621,V>V","rs9323540",0.058,0.026,0.029,0.024,0.03,0.023,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM20",1,160,"同义",13203,"0.45=65/144",null,8748,"14q24.1","NM_003814.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15367",101,58,0.57,{"$nulls":3},"A有","12307A","ADAM20","chr14:70990398","c.1227G>A(E2)","p.409,C>C","rs10162314",0.058,0.026,0.029,0.024,0.032,0.023,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM20",1,160,"同义",13203,"0.61=97/159",null,8748,"14q24.1","NM_003814.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5832",58,16,0.28,{"$nulls":3},"A有","12307A","ADAM21","chr14:70924237","c.21C>A(E2)","p.7,L>L","rs3751520",0.37,0.35,0.36,0.34,0.28,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,110,"同义",13203,"0.29=27/92",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5831",64,19,0.3,{"$nulls":3},"A有","12307A","ADAM21","chr14:70924249","c.33A>G(E2)","p.11,R>R","rs3751521",0.65,0.89,0.9,0.88,0.86,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,110,"同义",13203,"0.31=32/103",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5829",94,18,0.19,{"$nulls":3},"A有","12307A","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,9,0,"ADAM21",1,110,"同义",13303,"0.23=37/160",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"]
["12307A(99)v5827",89,89,1,{"$nulls":3},"A有","12307A","ADAM21","chr14:70924462","c.246A>G(E2)","p.82,L>L","rs3751523",{"$nulls":4},0.51,0.54,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,110,"同义",13303,"1.00=149/149",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5834",70,57,0.81,{"$nulls":3},"A有","12307A","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,9,0,"ADAM21",1,110,"错义",12320,"0.78=91/116",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"]
["12307A(99)v5830",69,30,0.43,{"$nulls":3},"A有","12307A","ADAM21","chr14:70924507","c.291A>C(E2)","p.97,A>A","rs3751524",{"$nulls":4},0.08,0.067,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,110,"同义",13303,"0.43=49/113",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5835",71,34,0.48,{"$nulls":3},"A有","12307A","ADAM21","chr14:70924852","c.636A>C(E2)","p.212,L>L","rs3829455",0.44,0.36,0.36,0.35,0.33,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,110,"同义",13203,"0.43=47/109",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5828",54,53,0.98,{"$nulls":3},"A有","12307A","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,9,0,"ADAM21",1,110,"同义",13303,"0.95=69/73",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"]
["12307A(99)v5833",51,13,0.25,{"$nulls":3},"A有","12307A","ADAM21","chr14:70925818","c.1602T>C(E2)","p.534,N>N","rs2022624",0.74,0.9,0.9,0.89,0.8,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,110,"同义",13203,"0.19=17/89",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"]
["12307A(99)v23505",6,4,0.67,{"$nulls":3},"A有","12307A","ADAM22","chr7:87564497","c.242C>G(E2)","p.81,P>R","rs2279542",0.63,0.52,0.57,0.47,0.42,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM22",0.99,280,"错义",12220,"0.71=5/7",null,53616,"7q21","NM_004194.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v695",89,45,0.51,{"$nulls":3},"A有","12307A","ADAM23","chr2:207459467","c.2085C>T(E23)","p.695,A>A","rs3732079",0.18,0.17,0.15,0.19,0.2,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM23",0.91,250,"同义",13203,"0.47=77/163",null,8745,"2q33","NM_003812.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26190",29,29,1,{"$nulls":3},"A有","12307A","ADAM28","chr8:24193264","m.1760T>C(E14)","非编码区","rs4872222",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM28",1,260,"非编码区",14200,"1.00=43/43",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"]
["12307A(99)v26192",171,171,1,{"$nulls":3},"A有","12307A","ADAM28","chr8:24211278","IVS21-5C>T","剪切位点","rs7815643",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM28",1,260,"剪切位点",16202,"1.00=319/320",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"]
["12307A(99)v26191",175,175,1,{"$nulls":3},"A有","12307A","ADAM28","chr8:24211331","c.2293G>A(E22)","p.765,V>M","rs7814768",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAM28",1,260,"错义",12220,"1.00=321/321",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"]
["12307A(99)v26193",104,69,0.66,{"$nulls":3},"A有","12307A","ADAM28","chr8:24211994-24211997","m.2488(E23)至m.2491(E23):缺失CTAT","非编码区","rs10610134",0.97,1,1,1,0.14,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"ADAM28",1,260,"非编码区",2420,"0.59=76/129",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"]
["12307A(99)v2225",81,40,0.49,{"$nulls":3},"A有","12307A","ADAM29","chr4:175898555","c.1879C>T(E4)","p.627,P>S","rs78280171",0.049,0.23,0.25,0.22,0.23,0.24,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ADAM29",1,150,"错义",12110,"0.50=61/122",null,11086,"4q34","NM_001130703.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19988",72,35,0.49,{"$nulls":3},"A有","12307A","ADAM30","chr1:120437718","c.1242G>A(E1)","p.414,D>D","rs2793823",0.33,0.094,0.11,0.073,0.087,null,"杂合","无关","有rs号，MAF>=5%",20018066,{"$nulls":3},5,null,1,0,"ADAM30",1,150,"同义",13203,"0.45=49/108",null,11085,"1p12","NM_021794.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16546",125,125,1,{"$nulls":3},"A有","12307A","ADAM32","chr8:39080632","c.1400C>G(E14)","p.467,T>S","rs7845771",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM32",1,310,"错义",12230,"1.00=229/229",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"]
["12307A(99)v16549",173,80,0.46,{"$nulls":3},"A有","12307A","ADAM32","chr8:39091526","c.1743T>C(E16)","p.581,T>T","rs4515515",0.22,0.3,0.29,0.31,0.26,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM32",1,310,"同义",13203,"0.45=144/319",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"]
["12307A(99)v16548",176,87,0.49,{"$nulls":3},"A有","12307A","ADAM32","chr8:39128387","IVS19-8C>T","剪切位点","rs4733994",0.22,0.29,0.27,0.31,0.25,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM32",1,310,"剪切位点",16202,"0.50=158/318",null,203102,"8p11.22","NM_145004.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6269",12,5,0.42,{"$nulls":3},"A有","12307A","ADAM33","chr20:3650205","c.2320G>A(E20)","p.774,P>S","rs2280090",0.14,0.11,0.11,0.11,0.075,0.14,"杂合","无关","有rs号，MAF>=5%","16519819;16784537;17878941;18778489;19146844;19236319;22583515;22851202;22871616;23380143;24141861;24751681;24944803",{"$nulls":3},5,null,3,0,"ADAM33",0.81,22,"错义",12210,"0.44=8/18",null,80332,"20p13","NM_025220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6268",12,6,0.5,{"$nulls":3},"A有","12307A","ADAM33","chr20:3650234","c.2291A>G(E20)","p.764,M>T","rs2280091",0.13,0.099,0.11,0.087,0.06,0.12,"杂合","无关","有rs号，MAF>=5%","16024651;16784537;17878941;18778489;19146844;19284602;22583515;22851202;22871616;23380143;24751681;24944803",{"$nulls":3},5,null,3,0,"ADAM33",0.81,22,"错义",12210,"0.50=8/16",null,80332,"20p13","NM_025220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6267",16,10,0.62,{"$nulls":3},"A有","12307A","ADAM33","chr20:3652298","c.1835A>T(E16)","p.612,L>H","rs41453444",0.0058,0.029,0.033,0.024,0.008,0.042,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ADAM33",0.81,22,"错义",12110,"0.67=16/24",null,80332,"20p13","NM_025220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3091",14,14,1,{"$nulls":3},"A有","12307A","ADAM8","chr10:135076523","m.2698C>A(E23)","非编码区","rs2995300",0.83,0.94,0.93,0.94,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.93,16,"非编码区",14200,"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"]
["12307A(99)v3096",23,23,1,{"$nulls":3},"A有","12307A","ADAM8","chr10:135076596","m.2625T>C(E23)","非编码区","rs2230576",0.74,0.93,0.91,0.94,0.9,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.93,16,"非编码区",14200,"1.00=36/36",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"]
["12307A(99)v3097",15,15,1,{"$nulls":3},"A有","12307A","ADAM8","chr10:135082346","c.1969A>G(E19)","p.657,F>L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,9,0,"ADAM8",0.93,16,"错义",12220,"1.00=25/25",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"]
["12307A(99)v3100",6,5,0.83,{"$nulls":3},"A有","12307A","ADAM8","chr10:135084232-135084233","IVS15+8至IVS15+7:插入AGA","非编码区","rs5789159",null,0.95,0.95,0.95,0.05,0.95,"杂合","无关","内含子突变",{"$nulls":4},5,null,9,0,"ADAM8",0.93,16,"非编码区",2500,"0.83=5/6",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"]
["12307A(99)v3099",3,3,1,{"$nulls":3},"A有","12307A","ADAM8","chr10:135085426","c.990A>G(E11)","p.330,C>C","rs1131719",0.92,0.95,0.96,0.95,0.81,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.93,16,"同义",13203,"1.00=5/5",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"]
["12307A(99)v3098",5,5,1,{"$nulls":3},"A有","12307A","ADAM8","chr10:135085754","c.900G>A(E10)","p.300,T>T","rs1131718",0.88,0.95,0.96,0.95,0.83,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.93,16,"同义",13203,"1.00=9/9",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"]
["12307A(99)v3095",11,11,1,{"$nulls":3},"A有","12307A","ADAM8","chr10:135086380","IVS7-10C>T","剪切位点","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.93,16,"剪切位点",16202,"1.00=20/20",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"]
["12307A(99)v3094",10,10,1,{"$nulls":3},"A有","12307A","ADAM8","chr10:135087521","c.136G>A(E3)","p.46,L>F","rs3008326",0.72,0.94,0.93,0.94,0.87,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.93,16,"错义",12220,"0.94=17/18",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"]
["12307A(99)v3092",5,5,1,{"$nulls":3},"A有","12307A","ADAM8","chr10:135089035","c.103A>G(E2)","p.35,W>R","rs2275725",0.9,0.95,0.96,0.95,0.81,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM8",0.93,16,"错义",12220,"1.00=8/8",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"]
["12307A(99)v14215",46,22,0.48,{"$nulls":3},"A有","12307A","ADAMTS1","chr21:28212760","c.1500G>A(E5)","p.500,P>P","rs436525",0.57,0.4,0.39,0.41,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS1",0.88,140,"同义",13203,"0.49=35/71",null,9510,"21q21.2","NM_006988.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15316",14,14,1,{"$nulls":3},"A有","12307A","ADAMTS10","chr19:8645786","c.3303A>C(E26)","p.1101,H>Q","rs7252299",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,3,1,"ADAMTS10",0.8,33,"错义",12230,"1.00=21/21",null,81794,"19p13.2","NM_030957.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15318",45,16,0.36,{"$nulls":3},"A有","12307A","ADAMTS10","chr19:8651562","c.2283A>G(E20)","p.761,P>P","rs4476282",0.18,0.089,0.09,0.087,0.095,0.11,"杂合","无关","有rs号，MAF>=5%",19836009,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,3,3,1,"ADAMTS10",0.8,33,"同义",13203,"0.38=24/64",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"]
["12307A(99)v15317",4,4,1,{"$nulls":3},"A有","12307A","ADAMTS10","chr19:8669931","c.401G>C(E4)","p.134,T>S","rs7255721",0.89,0.96,0.98,0.94,0.81,0.97,"纯合","无关","有rs号，MAF>=5%",19836009,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,3,1,"ADAMTS10",0.8,33,"错义",12220,"1.00=4/4",null,81794,"19p13.2","NM_030957.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17936",57,57,1,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,3,0,"ADAMTS12",1,140,"错义",12210,"0.99=92/93",null,81792,"5q35","NM_030955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17935",81,39,0.48,{"$nulls":3},"A有","12307A","ADAMTS12","chr5:33624430","c.2049A>G(E14)","p.683,D>D","rs61748198",0.16,0.24,0.22,0.25,0.24,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS12",1,140,"同义",13203,"0.49=65/134",null,81792,"5q35","NM_030955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17937",50,50,1,{"$nulls":3},"A有","12307A","ADAMTS12","chr5:33649807","IVS7-5C>A","剪切位点","rs4504387",0.54,0.73,0.72,0.73,null,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS12",1,140,"剪切位点",16202,"0.98=80/82",null,81792,"5q35","NM_030955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7024",21,21,1,{"$nulls":3},"A有","12307A","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",0.91,27,"同义",13203,"0.97=36/37",null,11093,"9q34","NM_139025.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7023",74,74,1,{"$nulls":3},"A有","12307A","ADAMTS13","chr9:136304497","c.1716A>G(E15)","p.572,T>T","rs3124768",0.52,0.82,0.82,0.82,0.83,0.82,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,2,1,"ADAMTS13",0.91,27,"同义",13203,"1.00=143/143",null,11093,"9q34","NM_139025.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21274",21,21,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,6,0,"ADAMTS14",0.98,36,"错义",12220,"0.97=33/34",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21276",19,19,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,6,0,"ADAMTS14",0.98,36,"同义",13203,"1.00=30/30",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21275",3,2,0.67,{"$nulls":3},"A有","12307A","ADAMTS14","chr10:72513635","c.2809C>A(E19)","p.937,L>M","rs12774070",0.16,0.19,0.19,0.2,0.13,0.22,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,6,0,"ADAMTS14",0.98,36,"错义",12220,"0.67=2/3",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21272",3,3,1,{"$nulls":3},"A有","12307A","ADAMTS14","chr10:72513682","c.2856C>T(E19)","p.952,C>C","rs2587475",0.53,0.5,0.52,0.48,0.36,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS14",0.98,36,"同义",13203,"1.00=4/4",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21273",21,10,0.48,{"$nulls":3},"A有","12307A","ADAMTS14","chr10:72517837","c.3057C>T(E20)","p.1019,P>P","rs6480463",0.52,0.41,0.44,0.37,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS14",0.98,36,"同义",13203,"0.44=11/25",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21271",32,15,0.47,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,6,0,"ADAMTS14",0.98,36,"错义",12220,"0.46=25/54",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10509",15,15,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ADAMTS15",0.97,27,"同义",13203,"0.96=24/25",null,170689,"11q25","NM_139055.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10508",18,10,0.56,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ADAMTS15",0.97,27,"错义",12210,"0.50=12/24",null,170689,"11q25","NM_139055.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24477",47,21,0.45,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"错义",12220,"0.47=36/76",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24473",50,28,0.56,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"错义",12220,"0.54=44/81",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24474",103,102,0.99,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"同义",13203,"0.99=196/198",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24476",140,59,0.42,{"$nulls":3},"A有","12307A","ADAMTS16","chr5:5239921","c.2406C>T(E16)","p.802,T>T","rs11742341",0.11,0.099,0.081,0.12,0.099,0.089,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"同义",13203,"0.48=116/244",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24475",70,30,0.43,{"$nulls":3},"A有","12307A","ADAMTS16","chr5:5240002","c.2487C>A(E16)","p.829,I>I","rs11742370",0.11,0.099,0.081,0.12,0.096,0.088,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"同义",13203,"0.45=54/121",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24472",40,17,0.42,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"错义",12210,"0.44=28/64",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24471",36,15,0.42,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ADAMTS16",0.95,110,"同义",13203,"0.44=27/61",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17827",3,3,1,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100514417","m.3557C>T(E22)","非编码区","rs2727199",0.52,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",14200,"1.00=3/3",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17818",3,3,1,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100514418","m.3556C>G(E22)","非编码区","rs2581343",0.52,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",14200,"1.00=3/3",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17829",8,8,1,{"$nulls":3},"A有","12307A","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",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",14200,"1.00=15/15",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17820",9,9,1,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100514525","m.3449C>T(E22)","非编码区","rs3825894",0.34,0.4,0.41,0.39,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",14200,"0.95=20/21",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17817",13,13,1,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100514561","m.3413G>C(E22)","非编码区","rs2581340",{"$nulls":5},0.53,"纯合","未知","UTR突变可能影响蛋白翻译",null,"Weill-Marchesani样综合症","AR",613195,3,1,13,1,"ADAMTS17",0.9,75,"非编码区",14300,"1.00=32/32",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17822",20,20,1,{"$nulls":3},"A有","12307A","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",613195,5,1,13,1,"ADAMTS17",0.9,75,"错义",12220,"1.00=39/39",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17828",29,29,1,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100672237","c.1696T>G(E12)","p.566,R>R","rs12907333",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"同义",13203,"1.00=45/45",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17823",24,10,0.42,{"$nulls":3},"A有","12307A","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",613195,5,3,13,1,"ADAMTS17",0.9,75,"错义",12220,"0.38=12/32",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17821",261,261,1,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100794363","c.1053C>T(E7)","p.351,K>K","rs4369638",0.82,0.86,0.84,0.88,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"同义",13203,"1.00=506/508",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17825",102,49,0.48,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100801698","c.1017G>A(E6)","p.339,A>A","rs4965613",0.69,0.61,0.59,0.62,0.64,0.63,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,13,1,"ADAMTS17",0.9,75,"同义",13203,"0.47=82/175",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17824",9,8,0.89,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100821426","IVS4+8G>A","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.28,0.3,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"非编码区",16203,"0.87=13/15",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17826",9,8,0.89,{"$nulls":3},"A有","12307A","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",613195,4,3,13,1,"ADAMTS17",0.9,75,"同义",13303,"0.79=11/14",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17819",3,3,1,{"$nulls":3},"A有","12307A","ADAMTS17","chr15:100821576","c.647G>A(E4)","p.216,S>L","rs7496668",0.48,0.49,0.5,0.49,0.4,0.54,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.9,75,"错义",12210,"1.00=3/3",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27703",6,3,0.5,{"$nulls":3},"A有","12307A","ADAMTS18","chr16:77317591","m.4347T>C(E23)","非编码区","rs889706",0.18,0.19,0.23,0.14,null,null,"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",615458,5,3,9,1,"ADAMTS18",0.99,170,"非编码区",14200,"0.50=4/8",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27701",36,22,0.61,{"$nulls":3},"A有","12307A","ADAMTS18","chr16:77317756","m.4182G>A(E23)","非编码区","rs889707",0.17,0.18,0.22,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,9,1,"ADAMTS18",0.99,170,"非编码区",14200,"0.59=27/46",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27707",90,44,0.49,{"$nulls":3},"A有","12307A","ADAMTS18","chr16:77323235","c.3476C>G(E22)","p.1159,S>T","rs3743749",0.18,0.2,0.24,0.16,0.19,0.22,"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",615458,5,3,9,1,"ADAMTS18",0.99,170,"错义",12220,"0.48=78/161",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27710",49,25,0.51,{"$nulls":3},"A有","12307A","ADAMTS18","chr16:77325325","c.3240G>T(E21)","p.1080,S>R","rs35478105",0.23,0.13,0.081,0.18,0.14,0.12,"杂合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,9,1,"ADAMTS18",0.99,170,"错义",12220,"0.48=37/77",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27709",49,49,1,{"$nulls":3},"A有","12307A","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",615458,5,1,9,1,"ADAMTS18",0.99,170,"错义",12220,"1.00=83/83",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27705",150,150,1,{"$nulls":3},"A有","12307A","ADAMTS18","chr16:77359919","c.1876A>T(E13)","p.626,L>I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,9,1,"ADAMTS18",0.99,170,"错义",12220,"1.00=268/268",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27708",147,147,1,{"$nulls":3},"A有","12307A","ADAMTS18","chr16:77389956","c.1341A>G(E9)","p.447,D>D","rs8059275",0.88,0.88,0.87,0.9,0.91,0.91,"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",615458,5,1,9,1,"ADAMTS18",0.99,170,"同义",13203,"1.00=245/245",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27704",98,56,0.57,{"$nulls":3},"A有","12307A","ADAMTS18","chr16:77393207","IVS8+8G>C","非编码区","rs2650907",0.46,0.34,0.31,0.36,null,0.36,"杂合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,9,1,"ADAMTS18",0.99,170,"非编码区",16203,"0.57=89/155",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27702",81,38,0.47,{"$nulls":3},"A有","12307A","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",615458,5,3,9,1,"ADAMTS18",0.99,170,"错义",12220,"0.46=62/134",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21088",209,208,1,{"$nulls":3},"A有","12307A","ADAMTS19","chr5:128863471","c.1099A>G(E5)","p.367,S>G","rs6595908",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS19",0.87,220,"错义",12220,"0.99=397/399",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"]
["12307A(99)v21089",50,50,1,{"$nulls":3},"A有","12307A","ADAMTS19","chr5:129072943","m.3656G>T(E23)","非编码区","rs1465686",0.95,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS19",0.87,220,"非编码区",14200,"1.00=88/88",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"]
["12307A(99)v24704",71,34,0.48,{"$nulls":3},"A有","12307A","ADAMTS2","chr5:178540975","c.3529G>A(E22)","p.1177,P>S","rs1054480",0.26,0.27,0.26,0.28,0.27,0.32,"杂合","无关","有rs号，MAF>=5%",23491141,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,4,1,"ADAMTS2",0.91,39,"错义",12220,"0.46=55/120",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24706",10,4,0.4,{"$nulls":3},"A有","12307A","ADAMTS2","chr5:178581859","c.1194G>A(E7)","p.398,D>D","rs2278221",0.23,0.28,0.29,0.27,0.25,0.34,"杂合","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",225410,5,3,4,1,"ADAMTS2",0.91,39,"同义",13203,"0.35=6/17",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24708",16,16,1,{"$nulls":3},"A有","12307A","ADAMTS2","chr5:178634619","c.786C>T(E4)","p.262,A>A","rs423552",0.92,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,4,1,"ADAMTS2",0.91,39,"同义",13203,"1.00=31/31",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24709",10,10,1,{"$nulls":3},"A有","12307A","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",225410,5,1,4,1,"ADAMTS2",0.91,39,"错义",12220,"1.00=18/18",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5454",136,70,0.51,{"$nulls":3},"A有","12307A","ADAMTS20","chr12:43777630","c.4603C>A(E30)","p.1535,G>W","rs117455456",0.004,0.019,0.019,0.019,0.011,0.023,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ADAMTS20",1,280,"错义",12120,"0.49=113/232",null,80070,"12q12","NM_025003.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5453",283,146,0.52,{"$nulls":3},"A有","12307A","ADAMTS20","chr12:43860526","c.1296A>G(E9)","p.432,P>P","rs11182088",0.43,0.79,0.82,0.77,0.74,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS20",1,280,"同义",13203,"0.51=277/546",null,80070,"12q12","NM_025003.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21244",18,18,1,{"$nulls":3},"A有","12307A","ADAMTS4","chr1:161163037","c.1877T>C(E7)","p.626,Q>R","rs4233367",0.71,0.88,0.89,0.88,0.83,0.9,"纯合","无关","有rs号，MAF>=5%",19064571,{"$nulls":3},5,null,2,0,"ADAMTS4",0.9,42,"错义",12220,"1.00=28/28",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"]
["12307A(99)v21245",12,11,0.92,{"$nulls":3},"A有","12307A","ADAMTS4","chr1:161168004","c.414C>T(E1)","p.138,S>S","rs33941127",0.37,0.47,0.46,0.47,0.49,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS4",0.9,42,"同义",13203,"0.95=20/21",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"]
["12307A(99)v7738",31,17,0.55,{"$nulls":3},"A有","12307A","ADAMTS5","chr21:28296324","m.3570A>G(E8)","非编码区","rs151065",0.78,0.48,0.49,0.47,null,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS5",0.94,120,"非编码区",14200,"0.60=25/42",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"]
["12307A(99)v7739",104,47,0.45,{"$nulls":3},"A有","12307A","ADAMTS5","chr21:28302355","c.2075A>G(E7)","p.692,L>P","rs226794",0.81,0.48,0.49,0.47,0.42,0.47,"杂合","无关","有rs号，MAF>=5%","18240210;23491141",{"$nulls":3},5,null,2,0,"ADAMTS5",0.94,120,"错义",12220,"0.44=75/170",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"]
["12307A(99)v17887",106,52,0.49,{"$nulls":3},"A有","12307A","ADAMTS6","chr5:64447777","IVS24-5C>T","剪切位点","rs17206779",0.38,0.4,0.4,0.39,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS6",1,270,"剪切位点",16202,"0.45=85/191",null,11174,"5q12","NM_197941.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3887",2,2,1,{"$nulls":3},"A有","12307A","ADAMTS7","chr15:79054900","c.4748C>G(E23)","p.1583,G>A","rs7495616",0.67,0.59,0.6,0.57,0.49,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.94,20,"错义",12220,"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"]
["12307A(99)v3885",3,2,0.67,{"$nulls":3},"A有","12307A","ADAMTS7","chr15:79058013","c.4240C>T(E19)","p.1414,G>S","rs2929155",0.67,0.58,0.6,0.57,0.39,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.94,20,"错义",12220,"0.60=3/5",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"]
["12307A(99)v3888",11,11,1,{"$nulls":3},"A有","12307A","ADAMTS7","chr15:79058572","c.3681T>G(E19)","p.1227,R>R","rs1809421",null,0.98,0.99,0.98,0.88,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"ADAMTS7",0.94,20,"同义",13303,"1.00=22/22",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"]
["12307A(99)v3889",3,3,1,{"$nulls":3},"A有","12307A","ADAMTS7","chr15:79058923","c.3330G>A(E19)","p.1110,P>P","rs1809422",0.95,0.92,0.91,0.93,0.77,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.94,20,"同义",13203,"1.00=6/6",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"]
["12307A(99)v3886",26,26,1,{"$nulls":3},"A有","12307A","ADAMTS7","chr15:79083120","c.920G>A(E6)","p.307,T>M","rs2127898",{"$nulls":4},0.35,0.32,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"ADAMTS7",0.94,20,"错义",12310,"1.00=37/37",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3890",18,18,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,6,0,"ADAMTS7",0.94,20,"同义",13203,"1.00=32/32",null,11173,"15q24.2","NM_014272.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18510",61,60,0.98,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ADAMTS8",0.89,33,"错义",12220,"0.99=95/96",null,11095,"11q25","NM_007037.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28312",92,92,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ADAMTS9",1,200,"错义",12220,"0.99=149/150",null,56999,"3p14.1","NM_182920.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28311",46,20,0.43,{"$nulls":3},"A有","12307A","ADAMTS9","chr3:64536648","c.4789C>T(E31)","p.1597,V>M","rs80311637",0.0084,0.043,0.052,0.034,0.024,0.043,"杂合","未知","蛋白结构预测结果为容忍或无害",24124411,{"$nulls":3},3,null,2,0,"ADAMTS9",1,200,"错义",12120,"0.48=37/77",null,56999,"3p14.1","NM_182920.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19758",119,59,0.5,{"$nulls":3},"A有","12307A","ADAMTSL1","chr9:18681821","c.1353A>G(E12)","p.451,T>T","rs13293151",0.28,0.27,0.31,0.22,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTSL1",1,100,"同义",13203,"0.50=106/210",null,92949,"9p21.3","NM_001040272.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19759",105,48,0.46,{"$nulls":3},"A有","12307A","ADAMTSL1","chr9:18684837-18684838","m.1765(E13)至m.1766(E13):缺失TG","非编码区","rs140349388",0.15,0.14,0.13,0.15,0.016,0.18,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"ADAMTSL1",1,100,"非编码区",2420,"0.46=52/112",null,92949,"9p21.3","NM_052866.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19757",6,3,0.5,{"$nulls":3},"A有","12307A","ADAMTSL1","chr9:18777395","c.3168G>A(E19)","p.1056,E>E",{"$nulls":6},0.00061,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAMTSL1",1,100,"同义",13403,"0.69=9/13",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"]
["12307A(99)v5489",56,33,0.59,{"$nulls":3},"A有","12307A","ADAMTSL2","chr9:136412170","c.774C>T(E9)","p.258,D>D","rs2073874",0.72,0.53,0.57,0.5,0.42,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,37,"同义",13203,"0.59=60/101",null,9719,"9q34.2","NM_001145320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5488",62,40,0.65,{"$nulls":3},"A有","12307A","ADAMTSL2","chr9:136412236","c.840A>T(E9)","p.280,A>A","rs2073875",0.72,0.53,0.57,0.5,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,37,"同义",13203,"0.59=59/100",null,9719,"9q34.2","NM_001145320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5492",56,35,0.62,{"$nulls":3},"A有","12307A","ADAMTSL2","chr9:136412255","c.859A>C(E9)","p.287,R>R","rs2073876",0.72,0.53,0.57,0.5,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,37,"同义",13203,"0.59=55/94",null,9719,"9q34.2","NM_001145320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5490",34,24,0.71,{"$nulls":3},"A有","12307A","ADAMTSL2","chr9:136412296","c.900C>T(E9)","p.300,I>I","rs2073877",0.096,0.14,0.16,0.13,0.12,0.14,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,37,"同义",13203,"0.69=36/52",null,9719,"9q34.2","NM_001145320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5491",4,3,0.75,{"$nulls":3},"A有","12307A","ADAMTSL2","chr9:136419629","c.1090G>A(E10)","p.364,V>I","rs35767802",{"$nulls":4},0.32,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Geleophysic发育不良1型","AR",231050,3,3,5,1,"ADAMTSL2",0.98,37,"错义",12320,"0.56=5/9",null,9719,"9q34.2","NM_001145320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23652",88,47,0.53,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84442272","IVS3-3T>C","剪切位点","rs75442575",0.09,0.22,0.24,0.2,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"剪切位点",16202,"0.51=78/153",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"]
["12307A(99)v23655",76,76,1,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84488636","c.437A>G(E6)","p.146,H>R","rs4483821",0.68,0.8,0.79,0.81,0.8,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"错义",12220,"1.00=119/119",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"]
["12307A(99)v23648",283,283,1,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84539619","c.868C>G(E9)","p.290,L>V","rs4144691",0.81,0.72,0.7,0.75,0.76,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"错义",12220,"1.00=585/585",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"]
["12307A(99)v23656",14,8,0.57,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84581889","c.1746G>A(E16)","p.582,P>P","rs12439867",0.39,0.34,0.31,0.37,0.34,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"同义",13203,"0.52=11/21",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"]
["12307A(99)v23650",17,17,1,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84581904","c.1761T>C(E16)","p.587,R>R","rs4842923",0.69,0.72,0.69,0.74,0.72,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"同义",13203,"1.00=24/24",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"]
["12307A(99)v23653",44,43,0.98,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84582124","c.1981G>T(E16)","p.661,V>L","rs4842838",0.69,0.72,0.69,0.74,0.73,0.74,"纯合","无关","有rs号，MAF>=5%","19343178;20189936",{"$nulls":3},5,null,9,0,"ADAMTSL3",1,190,"错义",12220,"0.99=75/76",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"]
["12307A(99)v23651",71,31,0.44,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84639350","c.2605C>T(E20)","p.869,L>F","rs2277849",0.26,0.33,0.35,0.31,0.33,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"错义",12220,"0.44=58/131",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"]
["12307A(99)v23654",81,44,0.54,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84651185","c.2805C>A(E21)","p.935,P>P","rs8031704",0.38,0.38,0.4,0.36,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"同义",13203,"0.52=77/149",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"]
["12307A(99)v23649",57,57,1,{"$nulls":3},"A有","12307A","ADAMTSL3","chr15:84651290","c.2910T>C(E21)","p.970,H>H","rs7176737",0.87,0.95,0.93,0.98,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTSL3",1,190,"同义",13203,"1.00=90/90",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"]
["12307A(99)v9427",38,38,1,{"$nulls":3},"A有","12307A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",0.94,35,"错义",12220,"1.00=67/67",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9427",38,38,1,{"$nulls":3},"A有","12307A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",0.94,35,"错义",12220,"1.00=67/67",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"]
["12307A(99)v9429",4,4,1,{"$nulls":3},"A有","12307A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",0.94,35,"同义",13203,"1.00=7/7",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9429",4,4,1,{"$nulls":3},"A有","12307A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",0.94,35,"同义",13203,"1.00=7/7",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"]
["12307A(99)v9428",4,3,0.75,{"$nulls":3},"A有","12307A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",0.94,35,"同义",13203,"0.75=3/4",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9428",4,3,0.75,{"$nulls":3},"A有","12307A","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",0.94,35,"同义",13203,"0.75=3/4",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"]
["12307A(99)v9425",7,7,1,{"$nulls":3},"A有","12307A","ADAMTSL4","chr1:150531050","c.2484G>A(E15)","p.828,P>P","rs10749657",0.88,0.98,0.99,0.98,0.93,0.97,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",0.94,35,"同义",13203,"1.00=9/9",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9425",7,7,1,{"$nulls":3},"A有","12307A","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",0.94,35,"同义",13203,"1.00=9/9",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"]
["12307A(99)v9424",17,17,1,{"$nulls":3},"A有","12307A","ADAMTSL4","chr1:150531170","c.2604C>T(E15)","p.868,H>H","rs10749658",0.92,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",0.94,35,"同义",13203,"1.00=31/31",null,54507,"1q21.3","NM_025008.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9424",17,17,1,{"$nulls":3},"A有","12307A","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",0.94,35,"同义",13203,"1.00=31/31",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"]
["12307A(99)v26971",2,2,1,{"$nulls":3},"A有","12307A","ADAMTSL5","chr19:1510661","c.168A>G(E3)","p.56,S>S","rs265291",0.94,1,1,1,0.65,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTSL5",0.91,14,"同义",13203,"1.00=2/2",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"]
["12307A(99)v30629",7,4,0.57,{"$nulls":3},"A有","12307A","ADAP1","chr7:940181","c.721C>T(E7)","p.241,G>S","rs10256887",0.87,0.88,0.89,0.88,0.79,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAP1",0.92,35,"错义",12230,"0.55=6/11",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"]
["12307A(99)v30628",7,3,0.43,{"$nulls":3},"A有","12307A","ADAP1","chr7:959692","IVS3-5G>A","剪切位点","rs6962883",0.12,0.25,0.25,0.26,0.22,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAP1",0.92,35,"剪切位点",16202,"0.45=5/11",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"]
["12307A(99)v30630",6,3,0.5,{"$nulls":3},"A有","12307A","ADAP1","chr7:975004","IVS2+7T>C","非编码区",{"$nulls":6},0,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"ADAP1",0.92,35,"非编码区",16403,"0.43=3/7",null,11033,"7p22.3","NM_006869.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2876",90,45,0.5,{"$nulls":3},"A有","12307A","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",1,110,"非编码区",16203,"0.53=84/159",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"]
["12307A(99)v2876",90,45,0.5,{"$nulls":3},"A有","12307A","ADAR","chr1:154557685","IVS14+8C>T","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.56,0.54,"杂合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,4,2,"ADAR",1,110,"非编码区",16203,"0.53=84/159",null,103,"1q21.3","NM_001025107.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2877",51,51,1,{"$nulls":3},"A有","12307A","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",1,110,"错义",12220,"1.00=75/75",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"]
["12307A(99)v2877",51,51,1,{"$nulls":3},"A有","12307A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"纯合","无关","有rs号，MAF>=5%","19434718;21939710","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,110,"错义",12220,"1.00=75/75",null,103,"1q21.3","NM_001025107.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2879",41,41,1,{"$nulls":3},"A有","12307A","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",1,110,"错义",12230,"1.00=62/62",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"]
["12307A(99)v2879",41,41,1,{"$nulls":3},"A有","12307A","ADAR","chr1:154574820","c.298T>C(E2)","p.100,R>G","rs1466731",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,110,"错义",12230,"1.00=62/62",null,103,"1q21.3","NM_001111.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2878",20,20,1,{"$nulls":3},"A有","12307A","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",1,110,"同义",13203,"1.00=27/27",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"]
["12307A(99)v2878",20,20,1,{"$nulls":3},"A有","12307A","ADAR","chr1:154575040","c.78C>T(E2)","p.26,R>R","rs1802645",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,4,2,"ADAR",1,110,"同义",13203,"1.00=27/27",null,103,"1q21.3","NM_001111.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10138",32,19,0.59,{"$nulls":3},"A有","12307A","ADARB1","chr21:46641968","c.1962G>A(E11)","p.654,K>K","rs1051367",0.49,0.57,0.6,0.55,0.53,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADARB1",1,130,"同义",13203,"0.60=32/53",null,104,"21q22.3","NM_001112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27517",5,5,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ADARB2",0.79,40,"非编码区",14200,"1.00=5/5",null,105,"10p15.3","NM_018702.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27518",3,3,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,2,0,"ADARB2",0.79,40,"错义",12220,"1.00=3/3",null,105,"10p15.3","NM_018702.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19352",93,93,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ADAT1",1,160,"错义",12220,"0.99=170/171",null,23536,"16q23.1","NM_012091.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19351",35,35,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,2,0,"ADAT1",1,160,"错义",12220,"1.00=52/52",null,23536,"16q23.1","NM_012091.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8184",10,5,0.5,{"$nulls":3},"A有","12307A","ADCK1","chr14:78399867","m.1600T>C(E10)","非编码区","rs3087972",0.48,0.41,0.4,0.42,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCK1",1,80,"非编码区",14200,"0.55=6/11",null,57143,"14q24.3","NM_001142545.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31207",54,26,0.48,{"$nulls":3},"A有","12307A","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",612016,5,3,3,1,"ADCK3",1,49,"同义",13203,"0.53=53/100",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"]
["12307A(99)v31206",59,29,0.49,{"$nulls":3},"A有","12307A","ADCK3","chr1:227174145","IVS14-9T>C","剪切位点","rs7552783",0.35,0.24,0.25,0.24,0.22,0.22,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,3,1,"ADCK3",1,49,"剪切位点",16202,"0.52=56/108",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31205",90,45,0.5,{"$nulls":3},"A有","12307A","ADCK3","chr1:227174210","c.1716T>C(E15)","p.572,S>S","rs3738725",0.31,0.24,0.25,0.24,0.21,0.23,"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",612016,5,3,3,1,"ADCK3",1,49,"同义",13203,"0.49=76/154",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"]
["12307A(99)v8648",10,10,1,{"$nulls":3},"A有","12307A","ADCK4","chr19:41211056","c.398T>C(E6)","p.133,H>R","rs3865452",0.48,0.45,0.41,0.49,0.36,0.47,"纯合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,1,1,1,"ADCK4",1,54,"错义",12220,"1.00=14/14",null,79934,"19q13.2","NM_001142555.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3796",26,26,1,{"$nulls":3},"A有","12307A","ADCK5","chr8:145603114","c.51A>C(E2)","p.17,R>S","rs6599528",0.63,0.66,0.7,0.62,0.59,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCK5",0.89,19,"错义",12220,"1.00=48/48",null,203054,"8q24.3","NM_174922.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21845",84,41,0.49,{"$nulls":3},"A有","12307A","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",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.50=67/133",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21841",123,123,1,{"$nulls":3},"A有","12307A","ADCY10","chr1:167817639","c.1938A>G(E16)","p.646,G>G","rs203795",0.82,0.85,0.82,0.87,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.99=276/278",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21843",105,105,1,{"$nulls":3},"A有","12307A","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",143870,5,1,6,1,"ADCY10",1,200,"错义",12220,"1.00=192/192",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21842",88,45,0.51,{"$nulls":3},"A有","12307A","ADCY10","chr1:167825606","c.1509A>G(E14)","p.503,F>F","rs2071922",0.21,0.46,0.43,0.5,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",19093065,"吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.50=76/151",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21844",150,63,0.42,{"$nulls":3},"A有","12307A","ADCY10","chr1:167839578","c.1074G>A(E11)","p.358,V>V","rs67878347",0.13,0.15,0.13,0.17,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.44=118/269",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21840",104,48,0.46,{"$nulls":3},"A有","12307A","ADCY10","chr1:167849414","c.696A>G(E8)","p.232,G>G","rs203849",0.49,0.31,0.3,0.33,0.29,0.33,"杂合","无关","有rs号，MAF>=5%","16038259;19093065","吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,200,"同义",13203,"0.44=78/178",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17061",3,3,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"非编码区",14200,"1.00=3/3",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17059",45,45,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"同义",13203,"0.99=74/75",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17058",48,48,1,{"$nulls":3},"A有","12307A","ADCY3","chr2:25047408","IVS15-3A>G","剪切位点","rs7604576",0.52,0.64,0.61,0.67,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"剪切位点",16202,"1.00=78/78",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17057",33,33,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"同义",13203,"1.00=47/47",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17060",20,20,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ADCY3",0.98,68,"同义",13203,"1.00=34/34",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3258",73,36,0.49,{"$nulls":3},"A有","12307A","ADCY4","chr14:24787588","m.3687T>C(E25)","非编码区","rs3181385",0.056,0.1,0.13,0.068,null,0.089,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADCY4",0.96,65,"非编码区",14200,"0.47=64/135",null,196883,"14q12","NM_001198568.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3257",68,68,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ADCY4",0.96,65,"剪切位点",16202,"1.00=125/125",null,196883,"14q12","NM_001198568.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3256",25,24,0.96,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ADCY4",0.96,65,"非编码区",16203,"0.97=36/37",null,196883,"14q12","NM_001198568.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28347",14,14,1,{"$nulls":3},"A有","12307A","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",606703,5,1,1,1,"ADCY5",0.81,45,"剪切位点",16202,"1.00=24/24",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"]
["12307A(99)v14669",29,9,0.31,{"$nulls":3},"A有","12307A","ADCY6","chr12:49177113","c.105T>G(E1)","p.35,A>A","rs2453486",0.29,0.37,0.34,0.39,0.32,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY6",1,55,"同义",13203,"0.29=15/51",null,112,"12q12-q13","NM_015270.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23996",21,21,1,{"$nulls":3},"A有","12307A","ADCY7","chr16:50326661","c.612A>G(E4)","p.204,A>A","rs8051594",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY7",0.99,46,"同义",13203,"1.00=32/32",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"]
["12307A(99)v21643",115,115,1,{"$nulls":3},"A有","12307A","ADCY8","chr8:131921956","c.1638A>G(E6)","p.546,P>P","rs12547243",0.54,0.65,0.7,0.59,0.64,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY8",0.97,130,"剪切位点",13202,"1.00=202/202",null,114,"8q24","NM_001115.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21642",113,52,0.46,{"$nulls":3},"A有","12307A","ADCY8","chr8:132002770","c.979G>A(E2)","p.327,L>L","rs2228950",0.31,0.082,0.086,0.078,0.094,0.092,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY8",0.97,130,"同义",13203,"0.46=88/191",null,114,"8q24","NM_001115.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7864",32,32,1,{"$nulls":3},"A有","12307A","ADCY9","chr16:4016676","c.3162A>G(E11)","p.1054,H>H","rs2230742",0.73,0.85,0.85,0.85,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,81,"同义",13203,"1.00=51/51",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"]
["12307A(99)v7866",14,7,0.5,{"$nulls":3},"A有","12307A","ADCY9","chr16:4027605","c.2706C>T(E9)","p.902,A>A","rs2240735",0.47,0.54,0.54,0.53,0.47,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,81,"同义",13203,"0.62=13/21",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"]
["12307A(99)v7865",57,28,0.49,{"$nulls":3},"A有","12307A","ADCY9","chr16:4033436","c.2316T>C(E7)","p.772,I>M","rs2230739",0.26,0.4,0.4,0.39,0.41,0.49,"杂合","无关","有rs号，MAF>=5%","20386734;20459687;24934404",{"$nulls":3},5,null,5,0,"ADCY9",1,81,"错义",12220,"0.48=50/105",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"]
["12307A(99)v7862",53,52,0.98,{"$nulls":3},"A有","12307A","ADCY9","chr16:4164364","c.1080C>T(E2)","p.360,R>R","rs2230738",0.32,0.62,0.59,0.66,0.63,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,81,"同义",13203,"0.99=98/99",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"]
["12307A(99)v7863",2,2,1,{"$nulls":3},"A有","12307A","ADCY9","chr16:4165432","c.12T>C(E2)","p.4,P>P","rs2530898",1,1,1,1,0.83,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADCY9",1,81,"同义",13203,"1.00=3/3",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"]
["12307A(99)v18267",4,4,1,{"$nulls":3},"A有","12307A","ADCYAP1","chr18:907675","c.126G>A(E3)","p.42,A>A","rs8192597",0.7,0.87,0.85,0.88,0.64,0.85,"纯合","无关","有rs号，MAF>=5%",23981011,{"$nulls":3},5,null,2,0,"ADCYAP1",1,32,"同义",13203,"1.00=7/7",null,116,"18p11","NM_001099733.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18266",57,26,0.46,{"$nulls":3},"A有","12307A","ADCYAP1","chr18:909561","c.456A>G(E5)","p.152,K>K","rs2231187",0.2,0.26,0.29,0.22,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",18349695,{"$nulls":3},5,null,2,0,"ADCYAP1",1,32,"同义",13203,"0.46=39/84",null,116,"18p11","NM_001099733.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1776",2,2,1,{"$nulls":3},"A有","12307A","ADCYAP1R1","chr7:31146455","m.1853A>G(E16)","非编码区","rs2302476",0.51,0.74,0.69,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCYAP1R1",0.94,100,"非编码区",14200,"1.00=2/2",null,117,"7p14","NM_001118.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10211",100,56,0.56,{"$nulls":3},"A有","12307A","ADGB","chr6:146993445","c.929T>C(E8)","p.310,I>T","rs9497606",0.28,0.096,0.11,0.078,0.1,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"错义",12220,"0.54=102/189",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"]
["12307A(99)v10215",115,115,1,{"$nulls":3},"A有","12307A","ADGB","chr6:147106841","c.4308A>G(E32)","p.1436,K>K","rs259391",0.55,0.4,0.38,0.42,0.45,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"同义",13203,"1.00=208/208",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"]
["12307A(99)v10213",73,37,0.51,{"$nulls":3},"A有","12307A","ADGB","chr6:147136212","c.4863A>T(E36)","p.1621,E>D","rs1052444",0.4,0.67,0.65,0.69,0.62,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"错义",12220,"0.50=64/127",null,79747,"6q24.3","NM_024694.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10214",53,21,0.4,{"$nulls":3},"A有","12307A","ADGB","chr6:147136244","c.4895A>G(E36)","p.1632,H>R","rs259370",0.73,0.77,0.74,0.81,0.75,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"错义",12220,"0.40=36/91",null,79747,"6q24.3","NM_024694.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10216",9,5,0.56,{"$nulls":3},"A有","12307A","ADGB","chr6:147136444","m.5136A>C(E36)","非编码区","rs1052449",0.43,0.67,0.65,0.69,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"非编码区",14200,"0.50=5/10",null,79747,"6q24.3","NM_024694.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10212",3,2,0.67,{"$nulls":3},"A有","12307A","ADGB","chr6:147136528","m.5220T>C(E36)","非编码区","rs1052451",0.43,0.67,0.65,0.69,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADGB",1,290,"非编码区",14200,"0.67=2/3",null,79747,"6q24.3","NM_024694.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31081",198,92,0.46,{"$nulls":3},"A有","12307A","ADH1B","chr4:100228945","m.1264T>C(E9)","非编码区","rs17033",0.11,0.1,0.071,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",null,"酒精依赖症",null,103780,5,2,3,1,"ADH1B",1,410,"非编码区",14200,"0.49=164/338",null,125,"4q23","NM_000668.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31083",273,271,0.99,{"$nulls":3},"A有","12307A","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",1,410,"同义",13203,"0.99=542/546",null,125,"4q23","NM_000668.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31082",184,89,0.48,{"$nulls":3},"A有","12307A","ADH1B","chr4:100239319","c.143T>C(E3)","p.48,H>R","rs1229984",0.84,0.27,0.24,0.29,0.32,0.27,"杂合","无关","有rs号，MAF>=5%","12050823;16255080;16685648;17185388;17273965;18331377;18382665;18500343;18518925;18936436;18996923;19193628;19262484;19298322;19486361;19526455;19687126;19698717;19737746;19861527;20089146;20158305;20205700;20219057;20700531;20833657;21303386;21351086;21372407;21378355;21437268;21497796;21576033;21895720;21900886;21917409;21926110;21940907;21968928;22144473;22150722;22325912;22560290;22674868;22690706;22930414;23088731;23149980;23414439;23430454;23456092;23743675;23806636;23895337;23969552;24018899;24065783;24093763;24114820;24282520;24553426;24633362;24716453;24735490;25047496;25133033;25192829","酒精依赖症",null,103780,5,2,3,1,"ADH1B",1,410,"错义",12220,"0.49=149/305",null,125,"4q23","NM_000668.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9478",85,39,0.46,{"$nulls":3},"A有","12307A","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,103780,5,2,3,2,"ADH1C",1,390,"同义",13203,"0.40=58/146",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9478",85,39,0.46,{"$nulls":3},"A有","12307A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"杂合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","迟发型帕金森病（易感）",null,168600,5,2,3,2,"ADH1C",1,390,"同义",13203,"0.40=58/146",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9479",155,154,0.99,{"$nulls":3},"A有","12307A","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,103780,5,1,3,2,"ADH1C",1,390,"加长",15200,"0.99=285/287",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9479",155,154,0.99,{"$nulls":3},"A有","12307A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","迟发型帕金森病（易感）",null,168600,5,1,3,2,"ADH1C",1,390,"加长",15200,"0.99=285/287",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9480",248,120,0.48,{"$nulls":3},"A有","12307A","ADH1C","chr4:100268979","c.43G>A(E2)","p.15,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"酒精依赖症",null,103780,4,2,3,2,"ADH1C",1,390,"同义",13403,"0.49=225/460",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9480",248,120,0.48,{"$nulls":3},"A有","12307A","ADH1C","chr4:100268979","c.43G>A(E2)","p.15,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"迟发型帕金森病（易感）",null,168600,4,2,3,2,"ADH1C",1,390,"同义",13403,"0.49=225/460",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2781",65,65,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,6,0,"ADH4",1,240,"非编码区",14200,"0.99=106/107",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2785",121,120,0.99,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,6,0,"ADH4",1,240,"非编码区",14200,"0.99=205/207",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2782",126,125,0.99,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,6,0,"ADH4",1,240,"错义",12220,"1.00=234/235",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2784",150,150,1,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,6,0,"ADH4",1,240,"错义",12220,"0.99=252/255",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2783",203,203,1,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,6,0,"ADH4",1,240,"同义",13203,"1.00=350/350",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2780",103,103,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,6,0,"ADH4",1,240,"同义",13203,"1.00=166/166",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31322",138,137,0.99,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ADH6",1,250,"错义",12230,"1.00=263/264",null,130,"4q23","NM_000672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18353",211,102,0.48,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,2,0,"ADHFE1",0.96,260,"错义",12220,"0.52=208/402",null,137872,"8q13.1","NM_144650.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18352",51,22,0.43,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ADHFE1",0.96,260,"非编码区",14200,"0.45=30/67",null,137872,"8q13.1","NM_144650.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8567",54,28,0.52,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ADI1",0.78,130,"非编码区",14200,"0.54=46/85",null,55256,"2p25.3","NM_018269.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15848",66,32,0.48,{"$nulls":3},"A有","12307A","ADIPOQ","chr3:186570892","c.45T>G(E3)","p.15,G>G","rs2241766",0.15,0.28,0.31,0.25,0.27,0.31,"杂合","无关","有rs号，MAF>=5%","15616038;16990411;17357083;17712123;18451143;18523726;18548168;18603647;18716158;18776141;18827209;19035456;19037660;19238139;19573164;19631916;19661719;19696691;19755407;19912668;20201642;20230294;20414354;20664545;20848215;21054480;21219602;21397927;21516303;21619462;21623778;21630088;21637951;21638131;21726267;22070425;22386722;22391941;22583123;22714914;23041095;23065236;23144319;23144325;23200411;23260797;23370338;23552441;23653335;23658423;23740135;23803590;24068295;24293390;24344808;24528335;24713294;24720830;25024592;25074391;25135112;25223469","血清脂联素数量性状位点1",null,612556,5,2,1,1,"ADIPOQ",1,150,"同义",13203,"0.50=49/98",null,9370,"3q27","NM_001177800.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11079",25,25,1,{"$nulls":3},"A有","12307A","ADIPOR1","chr1:202920300","IVS1-8A>C","剪切位点","rs2275737",0.64,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADIPOR1",1,170,"剪切位点",16202,"1.00=30/30",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"]
["12307A(99)v7269",27,13,0.48,{"$nulls":3},"A有","12307A","ADIPOR2","chr12:1895372","m.1492G>A(E8)","非编码区","rs730032",0.13,0.14,0.14,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADIPOR2",1,170,"非编码区",14200,"0.50=16/32",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"]
["12307A(99)v7270",27,27,1,{"$nulls":3},"A有","12307A","ADIPOR2","chr12:1895373","m.1493T>G(E8)","非编码区","rs758169",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADIPOR2",1,170,"非编码区",14200,"1.00=32/32",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"]
["12307A(99)v14529",2,2,1,{"$nulls":3},"A有","12307A","ADK","chr10:75936611","m.365C>T(E1)","非编码区","rs10824095",0.63,0.37,0.37,0.38,0.31,0.38,"纯合","无关","有rs号，MAF>=5%",null,"高蛋氨酸血症（腺苷激酶缺乏）","AR",614300,5,1,1,1,"ADK",1,290,"非编码区",14200,"1.00=3/3",null,132,"10q22|10q11-q24","NM_001123.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3413",20,20,1,{"$nulls":3},"A有","12307A","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",1,150,"非编码区",14200,"1.00=27/27",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"]
["12307A(99)v11698",19,19,1,{"$nulls":3},"A有","12307A","ADNP2","chr18:77894844","c.1548G>A(E4)","p.516,P>P","rs3744877",0.42,0.54,0.6,0.48,0.51,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,110,"同义",13203,"1.00=24/24",null,22850,"18q23","NM_014913.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11699",30,30,1,{"$nulls":3},"A有","12307A","ADNP2","chr18:77896242","c.2946C>T(E4)","p.982,D>D","rs3826595",0.29,0.46,0.51,0.41,0.41,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,110,"同义",13203,"1.00=40/40",null,22850,"18q23","NM_014913.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30268",32,15,0.47,{"$nulls":3},"A有","12307A","ADORA1","chr1:203098275","c.306T>G(E3)","p.102,A>A","rs2228079",0.23,0.16,0.16,0.16,0.17,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADORA1",1,81,"同义",13203,"0.53=29/55",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"]
["12307A(99)v30269",2,2,1,{"$nulls":3},"A有","12307A","ADORA1","chr1:203135841-203135841","m.2227(E4):缺失T","非编码区","rs11315020",0.9,0.8,0.82,0.78,0,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ADORA1",1,81,"非编码区",2420,"1.00=2/2",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"]
["12307A(99)v12708",14,8,0.57,{"$nulls":3},"A有","12307A","ADORA2A","chr22:24837301","c.1083T>C(E3)","p.361,Y>Y","rs5751876",0.44,0.5,0.47,0.52,0.44,0.51,"杂合","无关","有rs号，MAF>=5%","18305461;18759349;19565319;19591938;19902562;20334879;20386734;20396431;20520601;22012471;22336631;22940476;23018769;23332182;23535492",{"$nulls":3},5,null,1,0,"ADORA2A",1,43,"同义",13203,"0.62=13/21",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"]
["12307A(99)v26491",114,53,0.46,{"$nulls":3},"A有","12307A","ADORA3","chr1:112033285","c.207G>C(E2)","p.69,L>L","rs2275797",0.15,0.24,0.21,0.27,0.26,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADORA3",1,130,"同义",13203,"0.47=100/213",null,140,"1p13.2","NM_001081976.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26492",54,30,0.56,{"$nulls":3},"A有","12307A","ADORA3","chr1:112042632","c.897A>G(E2)","p.299,A>A","rs2229155",0.77,0.76,0.76,0.76,0.75,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADORA3",1,130,"同义",13203,"0.48=40/84",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"]
["12307A(99)v27224",31,11,0.35,{"$nulls":3},"A有","12307A","ADPGK","chr15:73044575","m.1692G>A(E7)","非编码区","rs9460",0.44,0.24,0.23,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPGK",0.88,140,"非编码区",14200,"0.33=15/46",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"]
["12307A(99)v27225",188,188,1,{"$nulls":3},"A有","12307A","ADPGK","chr15:73067234","c.438T>C(E2)","p.146,A>A","rs11634630",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPGK",0.88,140,"同义",13203,"1.00=414/414",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"]
["12307A(99)v14202",61,36,0.59,{"$nulls":3},"A有","12307A","ADPRH","chr3:119301139","c.123C>T(E3)","p.41,G>G","rs20568",0.15,0.28,0.3,0.26,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRH",1,85,"同义",13203,"0.60=60/100",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"]
["12307A(99)v14201",47,47,1,{"$nulls":3},"A有","12307A","ADPRH","chr3:119305379","c.546T>A(E4)","p.182,A>A","rs25676",0.41,0.54,0.55,0.52,0.43,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRH",1,85,"同义",13203,"1.00=82/82",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"]
["12307A(99)v15415",39,16,0.41,{"$nulls":3},"A有","12307A","ADPRHL2","chr1:36557619","c.625G>A(E4)","p.209,E>K","rs2236387",0.17,0.26,0.21,0.3,0.3,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADPRHL2",0.81,83,"错义",12220,"0.37=21/57",null,54936,"1p34.3","NM_017825.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7237",85,31,0.36,{"$nulls":3},"A有","12307A","ADPRM","chr17:10614442","c.1010A>G(E4)","p.337,E>G","rs406446",0.49,0.4,0.41,0.38,0.37,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,200,"错义",12220,"0.37=52/139",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"]
["12307A(99)v7236",5,3,0.6,{"$nulls":3},"A有","12307A","ADPRM","chr17:10614673","m.1316G>A(E4)","非编码区","rs445928",0.49,0.4,0.41,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,200,"非编码区",14200,"0.67=4/6",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"]
["12307A(99)v892",68,67,0.99,{"$nulls":3},"A有","12307A","ADRA1A","chr8:26628028","c.1039A>G(E2)","p.347,C>R","rs1048101",0.65,0.89,0.92,0.86,0.85,0.91,"纯合","无关","有rs号，MAF>=5%","15900517;16642433;18444252;19102884;19565482;19730237;20173430;23849431",{"$nulls":3},5,null,1,0,"ADRA1A",0.91,77,"错义",12220,"0.97=116/119",null,148,"8p21.2","NM_000680.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25566",20,12,0.6,{"$nulls":3},"A有","12307A","ADRA1D","chr20:4228485","IVS1+9G>T","非编码区","rs3746669",0.078,0.32,0.32,0.32,null,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADRA1D",0.85,8.7,"非编码区",16203,"0.61=19/31",null,146,"20p13","NM_000678.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24465",12,10,0.83,{"$nulls":3},"A有","12307A","ADRA2A","chr10:112838892","c.1138C>A(E1)","p.380,R>R","rs1800038",0.13,0.31,0.34,0.29,0.24,0.32,"杂合","无关","有rs号，MAF>=5%",19423370,{"$nulls":3},5,null,1,0,"ADRA2A",0.88,14,"同义",13203,"0.85=17/20",null,150,"10q25.2","NM_000681.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13533",3,2,0.67,{"$nulls":3},"A有","12307A","ADRB2","chr5:148206375","m.220C>T(E1)","非编码区","rs1801704",0.79,0.92,0.95,0.89,0.65,0.91,"杂合","无关","有rs号，MAF>=5%",null,"哮喘，易感","AD",600807,5,1,4,2,"ADRB2",1,110,"非编码区",14200,"0.67=2/3",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13533",3,2,0.67,{"$nulls":3},"A有","12307A","ADRB2","chr5:148206375","m.220C>T(E1)","非编码区","rs1801704",0.79,0.92,0.95,0.89,0.65,0.91,"杂合","无关","有rs号，MAF>=5%",null,"体重指数数量性状位点10",null,607514,5,2,4,2,"ADRB2",1,110,"非编码区",14200,"0.67=2/3",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"]
["12307A(99)v13532",8,4,0.5,{"$nulls":3},"A有","12307A","ADRB2","chr5:148206440","c.46G>A(E1)","p.16,G>R","rs1042713",0.48,0.58,0.61,0.55,0.49,0.55,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16741943;16935688;17143563;17150099;17199132;17512307;18191955;18304332;18482449;18513389;18534365;18599530;18603647;18615004;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19553224;19559392;19565482;19576569;19619703;19717003;19745160;19779622;20044476;20049212;20078877;20167428;20230274;20401335;20523301;20592916;21233812;21613201;21883537;22864926;22900502;22985077;23229623;23229733;23463918;23786226;24012958;24201779;24838642;24879436;24944790;24960039;25050782;25111792","哮喘，易感","AD",600807,5,1,4,2,"ADRB2",1,110,"错义",12230,"0.58=7/12",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13532",8,4,0.5,{"$nulls":3},"A有","12307A","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,607514,5,2,4,2,"ADRB2",1,110,"错义",12230,"0.58=7/12",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"]
["12307A(99)v13531",16,7,0.44,{"$nulls":3},"A有","12307A","ADRB2","chr5:148206473","c.79G>C(E1)","p.27,E>Q","rs1042714",0.8,0.92,0.95,0.89,0.82,0.91,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16600026;16642433;16741943;16935688;17143563;17150099;17199132;17512307;18279468;18304332;18513389;18534365;18599530;18603647;18611262;18615004;18625943;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19379518;19553224;19559392;19565482;19576569;19619703;19717003;19730237;19779622;20049212;20230274;20401335;20523301;20565774;20592916;21059181;21233812;21291465;21395649;21613201;21883537;22199155;22864926;22900502;22985077;23229623;23229733;23463918;23786226;23911093;24012958;24322328;24714117;24960039;25050782;25111792","哮喘，易感","AD",600807,5,1,4,2,"ADRB2",1,110,"错义",12230,"0.44=11/25",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13531",16,7,0.44,{"$nulls":3},"A有","12307A","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,607514,5,2,4,2,"ADRB2",1,110,"错义",12230,"0.44=11/25",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"]
["12307A(99)v13530",92,41,0.45,{"$nulls":3},"A有","12307A","ADRB2","chr5:148207633","c.1239G>A(E1)","p.413,L>L","rs1042720",0.51,0.65,0.67,0.63,0.57,0.62,"杂合","无关","有rs号，MAF>=5%",19284637,"哮喘，易感","AD",600807,5,1,4,2,"ADRB2",1,110,"同义",13203,"0.46=62/136",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13530",92,41,0.45,{"$nulls":3},"A有","12307A","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,607514,5,2,4,2,"ADRB2",1,110,"同义",13203,"0.46=62/136",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"]
["12307A(99)v18090",2,2,1,{"$nulls":3},"A有","12307A","ADRBK1","chr11:67034266","c.96C>A(E1)","p.32,I>I","rs2228418",0.65,0.73,0.69,0.78,0.54,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRBK1",0.99,41,"同义",13203,"1.00=3/3",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"]
["12307A(99)v18091",6,5,0.83,{"$nulls":3},"A有","12307A","ADRBK1","chr11:67050292","IVS14+3G>A","剪切位点","rs2071007",0.65,0.73,0.69,0.78,0.61,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRBK1",0.99,41,"剪切位点",16202,"0.80=8/10",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"]
["12307A(99)v29482",23,23,1,{"$nulls":3},"A有","12307A","ADRM1","chr20:60881330","c.408G>A(E4)","p.136,A>A","rs2427273",0.82,0.97,0.98,0.97,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRM1",0.98,35,"同义",13203,"1.00=37/37",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"]
["12307A(99)v29483",3,3,1,{"$nulls":3},"A有","12307A","ADRM1","chr20:60881780","c.531T>C(E5)","p.177,L>L","rs2427275",0.96,0.98,1,0.97,0.81,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRM1",0.98,35,"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"]
["12307A(99)v19519",2,2,1,{"$nulls":3},"A有","12307A","ADSS","chr1:244572581","m.1995T>C(E13)","非编码区","rs3087609",0.18,0.22,0.22,0.22,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADSS",1,380,"非编码区",14200,"1.00=3/3",null,159,"1q44","NM_001126.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13585",8,7,0.88,{"$nulls":3},"A有","12307A","ADSSL1","chr14:105196365","c.136T>C(E1)","p.46,L>L","rs33958252",0.61,0.63,0.62,0.64,0.52,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADSSL1",0.89,63,"同义",13203,"0.92=11/12",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"]
["12307A(99)v11033",101,100,0.99,{"$nulls":3},"A有","12307A","ADTRP","chr6:11723636","c.658C>T(E6)","p.220,V>I","rs2076185",0.16,0.5,0.49,0.5,0.45,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADTRP",1,250,"错义",12220,"0.99=188/190",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"]
["12307A(99)v6687",9,6,0.67,{"$nulls":3},"A有","12307A","AEBP1","chr7:44147485","c.817C>A(E5)","p.273,P>T","rs2537188",0.36,0.27,0.27,0.27,0.21,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEBP1",1,61,"错义",12220,"0.70=7/10",null,165,"7p13","NM_001129.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6686",34,34,1,{"$nulls":3},"A有","12307A","AEBP1","chr7:44148553","c.996A>G(E7)","p.332,T>T","rs2595701",0.79,0.9,0.91,0.88,0.86,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEBP1",1,61,"同义",13203,"1.00=61/61",null,165,"7p13","NM_001129.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v70",11,3,0.27,{"$nulls":3},"A有","12307A","AEN","chr15:89169858","c.418A>G(E2)","p.140,N>D","rs8027765",0.76,0.77,0.79,0.76,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEN",1,22,"错义",12220,"0.33=7/21",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"]
["12307A(99)v71",26,9,0.35,{"$nulls":3},"A有","12307A","AEN","chr15:89172558","c.642G>C(E3)","p.214,T>T","rs3743475",0.75,0.77,0.79,0.76,0.75,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEN",1,22,"同义",13203,"0.28=13/46",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"]
["12307A(99)v8197",12,4,0.33,{"$nulls":3},"A有","12307A","AES","chr19:3062857","c.69T>C(E1)","p.23,L>L","rs11539938",0.39,0.5,0.47,0.53,0.41,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AES",1,23,"同义",13203,"0.23=5/22",null,166,"19p13.3","NM_198969.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2398",5,2,0.4,{"$nulls":3},"A有","12307A","AFAP1","chr4:7765193","m.3017A>G(E18)","非编码区","rs2240054",0.27,0.41,0.41,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"非编码区",14200,"0.50=3/6",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2396",117,59,0.5,{"$nulls":3},"A有","12307A","AFAP1","chr4:7765495","c.2442G>T(E18)","p.814,T>T","rs2240053",0.24,0.4,0.4,0.4,0.42,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"0.49=97/197",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2394",81,81,1,{"$nulls":3},"A有","12307A","AFAP1","chr4:7770723","c.2266G>T(E17)","p.756,R>R","rs2285761",0.37,0.65,0.67,0.63,0.67,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"1.00=149/149",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2392",9,4,0.44,{"$nulls":3},"A有","12307A","AFAP1","chr4:7774610","c.2190C>T(E16)","p.730,A>A","rs2276967",0.18,0.44,0.44,0.45,0.36,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"0.44=7/16",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2395",85,85,1,{"$nulls":3},"A有","12307A","AFAP1","chr4:7783163","c.1722G>A(E13)","p.574,S>S","rs28542374",0.63,0.82,0.86,0.79,0.81,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"1.00=139/139",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2393",118,63,0.53,{"$nulls":3},"A有","12307A","AFAP1","chr4:7783286","c.1599G>A(E13)","p.533,N>N","rs10516189",0.21,0.49,0.48,0.5,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"0.54=107/200",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2397",74,30,0.41,{"$nulls":3},"A有","12307A","AFAP1","chr4:7845067","c.345G>A(E5)","p.115,S>S","rs62289296",0.15,0.2,0.24,0.16,0.21,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AFAP1",1,160,"同义",13203,"0.43=51/118",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30091",2,2,1,{"$nulls":3},"A有","12307A","AFAP1L2","chr10:116055417","m.3142C>T(E19)","非编码区","rs3750821",0.6,0.7,0.7,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AFAP1L2",1,92,"非编码区",14200,"1.00=3/3",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"]
["12307A(99)v30094",29,19,0.66,{"$nulls":3},"A有","12307A","AFAP1L2","chr10:116060194-116060195","IVS14+10至IVS14+9:插入G","非编码区","rs3214266",0.94,1,1,1,0.17,0.99,"杂合","无关","内含子突变",{"$nulls":4},5,null,5,0,"AFAP1L2",1,92,"非编码区",2500,"0.68=21/31",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"]
["12307A(99)v30093",29,29,1,{"$nulls":3},"A有","12307A","AFAP1L2","chr10:116060387","c.1605T>C(E14)","p.535,R>R","rs2286396",null,0.72,0.72,0.71,0.68,0.73,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"AFAP1L2",1,92,"同义",13303,"1.00=51/51",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"]
["12307A(99)v30092",36,35,0.97,{"$nulls":3},"A有","12307A","AFAP1L2","chr10:116073696","c.726C>T(E7)","p.242,T>T","rs3813722",0.58,0.9,0.88,0.91,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AFAP1L2",1,92,"同义",13203,"0.98=54/55",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"]
["12307A(99)v30090",26,26,1,{"$nulls":3},"A有","12307A","AFAP1L2","chr10:116091555","IVS4+7T>C","非编码区","rs10787524",0.74,0.97,0.97,0.98,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AFAP1L2",1,92,"非编码区",16203,"1.00=43/43",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"]
["12307A(99)v27745",55,54,0.98,{"$nulls":3},"A有","12307A","AFF1","chr4:88056925","m.4004A>G(E21)","非编码区","rs342464",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AFF1",1,170,"非编码区",14200,"0.99=91/92",null,4299,"4q21","NM_001166693.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14085",145,145,1,{"$nulls":3},"A有","12307A","AFF2","chrX:148055144","IVS15+7A>G","非编码区","rs5980615",null,1,1,1,0.99,1,"纯合","未知","内含子突变可能影响调控",null,"X连锁智力低下,脆性X-F相关","XR",309548,4,1,1,1,"AFF2",1,230,"非编码区",16303,"1.00=253/253",null,2334,"Xq28","NM_001169122.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3960",199,199,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"AFF3",0.93,110,"错义",12230,"1.00=350/350",null,3899,"2q11.2-q12","NM_001025108.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28186",104,57,0.55,{"$nulls":3},"A有","12307A","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",0.95,250,"非编码区",14200,"0.55=86/156",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28186",104,57,0.55,{"$nulls":3},"A有","12307A","AFG3L2","chr18:12329536","m.2616C>G(E17)","非编码区","rs1129115",0.34,0.35,0.37,0.33,null,0.38,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,250,"非编码区",14200,"0.55=86/156",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28185",124,53,0.43,{"$nulls":3},"A有","12307A","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",0.95,250,"同义",13203,"0.46=102/224",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28185",124,53,0.43,{"$nulls":3},"A有","12307A","AFG3L2","chr18:12348285","c.1650T>C(E13)","p.550,E>E","rs11553521",0.71,0.63,0.62,0.65,0.6,0.61,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,250,"同义",13203,"0.46=102/224",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28188",135,77,0.57,{"$nulls":3},"A有","12307A","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",0.95,250,"同义",13203,"0.56=130/232",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28188",135,77,0.57,{"$nulls":3},"A有","12307A","AFG3L2","chr18:12351342","c.1389C>T(E11)","p.463,L>L","rs11080572",0.62,0.62,0.62,0.63,0.6,0.6,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,250,"同义",13203,"0.56=130/232",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28187",167,73,0.44,{"$nulls":3},"A有","12307A","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",0.95,250,"剪切位点",16202,"0.44=132/297",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28187",167,73,0.44,{"$nulls":3},"A有","12307A","AFG3L2","chr18:12359920","IVS7+6G>A","剪切位点","rs8097342",0.62,0.62,0.61,0.63,0.63,0.6,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传痉挛性共济失调5","AR",614487,5,3,4,2,"AFG3L2",0.95,250,"剪切位点",16202,"0.44=132/297",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28602",158,79,0.5,{"$nulls":3},"A有","12307A","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",1,230,"非编码区",16203,"0.50=141/281",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"]
["12307A(99)v28602",158,79,0.5,{"$nulls":3},"A有","12307A","AFP","chr4:74302071","IVS1+7T>A","非编码区","rs3796678",0.5,0.56,0.6,0.52,0.53,0.59,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,230,"非编码区",16203,"0.50=141/281",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28606",177,85,0.48,{"$nulls":3},"A有","12307A","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",1,230,"剪切位点",16202,"0.50=164/327",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"]
["12307A(99)v28606",177,85,0.48,{"$nulls":3},"A有","12307A","AFP","chr4:74302870","IVS1-7T>C","剪切位点","rs16849384",0.42,0.44,0.4,0.48,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,230,"剪切位点",16202,"0.50=164/327",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28604",129,58,0.45,{"$nulls":3},"A有","12307A","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",1,230,"剪切位点",16202,"0.49=111/225",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"]
["12307A(99)v28604",129,58,0.45,{"$nulls":3},"A有","12307A","AFP","chr4:74310844","IVS7+5A>G","剪切位点","rs2298839",0.51,0.65,0.68,0.62,0.64,0.69,"杂合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,2,5,2,"AFP",1,230,"剪切位点",16202,"0.49=111/225",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28603",34,34,1,{"$nulls":3},"A有","12307A","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",1,230,"剪切位点",16202,"1.00=45/45",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"]
["12307A(99)v28603",34,34,1,{"$nulls":3},"A有","12307A","AFP","chr4:74313169","IVS7-10T>C","剪切位点","rs7667494",1,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,1,5,2,"AFP",1,230,"剪切位点",16202,"1.00=45/45",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28605",53,53,1,{"$nulls":3},"A有","12307A","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",1,230,"同义",13203,"1.00=89/89",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"]
["12307A(99)v28605",53,53,1,{"$nulls":3},"A有","12307A","AFP","chr4:74318330","c.1641A>G(E12)","p.547,T>T","rs4235117",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性α甲胎蛋白持续存在",null,615970,5,1,5,2,"AFP",1,230,"同义",13203,"1.00=89/89",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11537",81,39,0.48,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"AFTPH",1,190,"错义",12220,"0.43=51/118",null,54812,"2p14","NM_001002243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11536",177,95,0.54,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"AFTPH",1,190,"剪切位点",16201,"0.52=170/325",null,54812,"2p14","NM_001002243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9915",117,117,1,{"$nulls":3},"A有","12307A","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",208400,5,1,1,1,"AGA",1,240,"错义",12220,"1.00=224/224",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"]
["12307A(99)v15391",94,43,0.46,{"$nulls":3},"A有","12307A","AGAP1","chr2:236659110","c.651T>C(E6)","p.217,N>N","rs112666282",0.029,0.022,0.029,0.015,0.028,0.021,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"AGAP1",0.94,100,"同义",13103,"0.46=73/158",null,116987,"2q37","NM_001037131.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15392",85,85,1,{"$nulls":3},"A有","12307A","AGAP1","chr2:236957822","c.2011G>A(E16)","p.671,V>I","rs2034648",0.69,0.73,0.72,0.73,0.73,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP1",0.94,100,"错义",12220,"1.00=154/154",null,116987,"2q37","NM_001037131.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20234",149,146,0.98,{"$nulls":3},"A有","12307A","AGAP11","chr10:88768253","c.244A>G(E12)","p.82,I>V","rs2641563",0.79,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP11",1,180,"错义",12220,"0.98=232/236",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"]
["12307A(99)v20233",54,54,1,{"$nulls":3},"A有","12307A","AGAP11","chr10:88768423","c.414A>G(E12)","p.138,T>T","rs2641562",0.4,0.69,0.73,0.65,0.68,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP11",1,180,"同义",13203,"1.00=78/78",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"]
["12307A(99)v20232",109,109,1,{"$nulls":3},"A有","12307A","AGAP11","chr10:88768657","c.648C>T(E12)","p.216,D>D","rs1745901",0.78,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP11",1,180,"同义",13203,"1.00=169/169",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"]
["12307A(99)v25340",29,22,0.76,{"$nulls":3},"A有","12307A","AGAP4","chr10:46321527","c.1828G>A(E7)","p.610,R>C","rs200049550",{"$nulls":4},0.06,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AGAP4",1,110,"错义",12310,"0.74=26/35",null,119016,"10q11.22","NM_133446.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25339",28,15,0.54,{"$nulls":3},"A有","12307A","AGAP4","chr10:46321555","c.1800G>A(E7)","p.600,D>D",{"$nulls":5},0.047,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"AGAP4",1,110,"同义",13403,"0.53=16/30",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"]
["12307A(99)v25338",65,33,0.51,{"$nulls":3},"A有","12307A","AGAP4","chr10:46321905","c.1450G>A(E7)","p.484,R>C","rs200463969",{"$nulls":5},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AGAP4",1,110,"错义",12310,"0.48=43/89",null,119016,"10q11.22","NM_133446.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20140",68,20,0.29,{"$nulls":3},"A有","12307A","AGAP5","chr10:75434260","m.2199T>A(E8)","非编码区","rs202243926",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AGAP5",1,190,"非编码区",14300,"0.29=37/127",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"]
["12307A(99)v20141",43,13,0.3,{"$nulls":3},"A有","12307A","AGAP5","chr10:75434641","c.1777G>A(E8)","p.593,R>W","rs201458716",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AGAP5",1,190,"错义",12310,"0.38=21/56",null,729092,"10q22.2","NM_001144000.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20142",108,43,0.4,{"$nulls":3},"A有","12307A","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,3,0,"AGAP5",1,190,"错义",12320,"0.43=81/187",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"]
["12307A(99)v26301",5,3,0.6,{"$nulls":3},"A有","12307A","AGAP6","chr10:51748266-51748267","m.189(E1)至m.190(E1):缺失AG","非编码区",null,null,0.16,0.15,0.17,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"AGAP6",1,170,"非编码区",2440,"0.57=4/7",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"]
["12307A(99)v26299",102,33,0.32,{"$nulls":3},"A有","12307A","AGAP6","chr10:51748584","c.109A>G(E1)","p.37,R>G","rs200504295",{"$nulls":5},0.014,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"AGAP6",1,170,"错义",12320,"0.29=46/157",null,414189,"10q11.23","NM_001077665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26302",213,48,0.23,{"$nulls":3},"A有","12307A","AGAP6","chr10:51748683-51748684","c.208(E1)至c.209(E1):缺失CG插入A","复杂移码",{"$nulls":5},0.0039,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,5,0,"AGAP6",1,170,"复杂移码",2140,"0.24=54/227",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"]
["12307A(99)v26298",93,30,0.32,{"$nulls":3},"A有","12307A","AGAP6","chr10:51769562","c.1677G>A(E8)","p.559,T>T","rs201341309",0.066,0.019,0.0095,0.029,null,0.026,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AGAP6",1,170,"同义",13203,"0.33=48/146",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"]
["12307A(99)v26300",49,21,0.43,{"$nulls":3},"A有","12307A","AGAP6","chr10:51769670","c.1785C>T(E8)","p.595,T>T","rs201151847",0.066,0.019,0.0095,0.029,null,0.027,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AGAP6",1,170,"同义",13203,"0.43=26/60",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"]
["12307A(99)v16404",77,77,1,{"$nulls":3},"A有","12307A","AGAP7","chr10:51465552","c.904A>T(E7)","p.302,Y>N","rs61850064",{"$nulls":4},0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"AGAP7",1,190,"错义",12320,"1.00=131/131",null,653268,"10q11.23","NM_001077685.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6192",30,20,0.67,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"AGAP8",1,140,"同义",13203,"0.55=27/49",null,728404,"10q11.23","NM_001077686.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17732",132,132,1,{"$nulls":3},"A有","12307A","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",615523,5,1,3,1,"AGBL1",1,180,"同义",13203,"1.00=222/222",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"]
["12307A(99)v17733",31,31,1,{"$nulls":3},"A有","12307A","AGBL1","chr15:87217613","c.3029A>G(E22)","p.1010,Q>R","rs8028043",0.89,0.92,0.94,0.89,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,3,1,"AGBL1",1,180,"错义",12220,"0.98=52/53",null,123624,"15q25.3","NM_152336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17731",206,206,1,{"$nulls":3},"A有","12307A","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",615523,5,1,3,1,"AGBL1",1,180,"同义",13203,"0.99=395/397",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"]
["12307A(99)v3499",86,85,0.99,{"$nulls":3},"A有","12307A","AGBL2","chr11:47701528","c.2013C>A(E13)","p.671,M>I","rs12286721",0.58,0.62,0.61,0.63,0.64,0.62,"纯合","无关","有rs号，MAF>=5%",19060910,{"$nulls":3},5,null,1,0,"AGBL2",1,240,"错义",12220,"0.99=160/161",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"]
["12307A(99)v14081",122,59,0.48,{"$nulls":3},"A有","12307A","AGBL3","chr7:134678253","c.134T>A(E4)","p.45,F>Y","rs2348049",0.23,0.19,0.21,0.16,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,290,"错义",12220,"0.49=107/218",null,340351,"7q33","NM_178563.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14083",294,294,1,{"$nulls":3},"A有","12307A","AGBL3","chr7:134701856","c.364G>C(E5)","p.122,E>Q","rs4236655",0.91,1,1,1,1,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,290,"错义",12220,"0.99=596/600",null,340351,"7q33","NM_178563.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14082",133,132,0.99,{"$nulls":3},"A有","12307A","AGBL3","chr7:134719551","c.1209C>G(E7)","p.403,L>L","rs9656447",0.91,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL3",1,290,"同义",13203,"0.99=233/236",null,340351,"7q33","NM_178563.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24182",2,2,1,{"$nulls":3},"A有","12307A","AGBL4","chr1:48998708","m.2807T>C(E14)","非编码区","rs2803260",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"AGBL4",1,220,"非编码区",14300,"1.00=3/3",null,84871,"1p33","NM_032785.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24183",2,2,1,{"$nulls":3},"A有","12307A","AGBL4","chr1:48999555","m.1960T>C(E14)","非编码区","rs2798111",0.32,0.36,0.39,0.33,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGBL4",1,220,"非编码区",14200,"1.00=2/2",null,84871,"1p33","NM_032785.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11544",91,91,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"AGBL5",1,100,"非编码区",14200,"1.00=154/154",null,60509,"2p23.3","NM_021831.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12207",188,89,0.47,{"$nulls":3},"A有","12307A","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,2,0,"AGFG1",1,240,"同义",13403,"0.44=165/375",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"]
["12307A(99)v12206",72,30,0.42,{"$nulls":3},"A有","12307A","AGFG1","chr2:228416712","c.1488A>G(E12)","p.496,T>T","rs13426457",0.77,0.68,0.64,0.71,0.67,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGFG1",1,240,"同义",13203,"0.44=55/125",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"]
["12307A(99)v8859",176,89,0.51,{"$nulls":3},"A有","12307A","AGGF1","chr5:76359024","c.2092C>A(E14)","p.698,P>T","rs34400049",0.21,0.24,0.25,0.23,0.26,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGGF1",1,280,"错义",12220,"0.48=142/296",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"]
["12307A(99)v2512",194,86,0.44,{"$nulls":3},"A有","12307A","AGL","chr1:100327026","m.261C>T(E1)","非编码区","rs2307129",0.23,0.1,0.12,0.087,null,0.12,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,3,3,1,"AGL",1,310,"非编码区",14200,"0.46=172/370",null,178,"1p21","NM_000645.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2513",168,72,0.43,{"$nulls":3},"A有","12307A","AGL","chr1:100336361","c.894C>T(E7)","p.298,L>L","rs2230306",0.76,0.69,0.67,0.71,0.63,0.68,"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",1,310,"同义",13203,"0.41=121/297",null,178,"1p21","NM_000028.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2511",205,87,0.42,{"$nulls":3},"A有","12307A","AGL","chr1:100357980","IVS23-8T>C","剪切位点","rs186402161",0.0006,0.0024,0.0048,0,0.012,7.6E-3,"杂合","未知","剪切位点预测结果为无害",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,4,3,3,1,"AGL",1,310,"剪切位点",16102,"0.40=150/376",null,178,"1p21","NM_000028.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23632",47,47,1,{"$nulls":3},"A有","12307A","AGMAT","chr1:15909850","c.313C>G(E2)","p.105,G>R","rs6429757",0.63,0.6,0.59,0.61,0.6,0.63,"纯合","无关","有rs号，MAF>=5%",20808825,{"$nulls":3},5,null,2,0,"AGMAT",0.74,94,"错义",12220,"1.00=79/79",null,79814,"1p36.21","NM_024758.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23631",37,36,0.97,{"$nulls":3},"A有","12307A","AGMAT","chr1:15909895","IVS1-5A>G","剪切位点","rs6429758",0.61,0.6,0.59,0.61,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGMAT",0.74,94,"剪切位点",16202,"0.98=58/59",null,79814,"1p36.21","NM_024758.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27073",12,6,0.5,{"$nulls":3},"A有","12307A","AGPAT5","chr8:6566351","c.162C>G(E1)","p.54,L>L","rs62497278",0.12,0.35,0.36,0.34,0.26,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGPAT5",1,200,"同义",13203,"0.48=10/21",null,55326,"8p23.1","NM_018361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v473",86,47,0.55,{"$nulls":3},"A有","12307A","AGPHD1","chr15:78825562","c.672C>T(E5)","p.224,H>H","rs12906951",0.24,0.16,0.16,0.17,0.18,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGPHD1",1,200,"同义",13203,"0.54=81/150",null,123688,"15q25.1","NM_001013619.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19936",36,18,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"AGR2",1,330,"非编码区",14200,"0.52=23/44",null,10551,"7p21.3","NM_006408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19935",118,55,0.47,{"$nulls":3},"A有","12307A","AGR2","chr7:16834551","IVS7+9C>A","非编码区","rs4719480",0.92,0.97,0.98,0.97,0.95,0.96,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGR2",1,330,"非编码区",16203,"0.45=93/207",null,10551,"7p21.3","NM_006408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12294",114,57,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"AGR3",1,350,"非编码区",14200,"0.48=95/197",null,155465,"7p21.1","NM_176813.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12293",221,221,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"AGR3",1,350,"非编码区",16203,"0.99=384/386",null,155465,"7p21.1","NM_176813.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18279",6,6,1,{"$nulls":3},"A有","12307A","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",615120,5,1,4,1,"AGRN",0.8,11,"同义",13203,"1.00=9/9",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"]
["12307A(99)v18278",18,18,1,{"$nulls":3},"A有","12307A","AGRN","chr1:982994","c.3558T>C(E21)","p.1186,F>F","rs10267",0.84,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,4,1,"AGRN",0.8,11,"同义",13203,"1.00=34/34",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18277",16,16,1,{"$nulls":3},"A有","12307A","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",615120,5,1,4,1,"AGRN",0.8,11,"剪切位点",16202,"1.00=22/22",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"]
["12307A(99)v18281",2,2,1,{"$nulls":3},"A有","12307A","AGRN","chr1:990280","c.6057C>T(E36)","p.2019,D>D","rs4275402",0.59,0.8,0.82,0.78,0.59,0.82,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,4,1,"AGRN",0.8,11,"同义",13203,"1.00=3/3",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16659",14,14,1,{"$nulls":3},"A有","12307A","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",1,47,"同义",13303,"1.00=24/24",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"]
["12307A(99)v16659",14,14,1,{"$nulls":3},"A有","12307A","AGT","chr1:230841687","c.1116T>C(E3)","p.372,L>L","rs7080",null,1,1,1,0.95,1,"纯合","未知","预测范围之外的同义突变",null,"子痫前期/子痫1型","AD",189800,4,1,2,3,"AGT",1,47,"同义",13303,"1.00=24/24",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16659",14,14,1,{"$nulls":3},"A有","12307A","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",1,47,"同义",13303,"1.00=24/24",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"]
["12307A(99)v16658",20,20,1,{"$nulls":3},"A有","12307A","AGT","chr1:230845794","c.803A>G(E2)","p.268,M>T","rs699",0.71,0.83,0.87,0.79,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","18069999;18248681;18279468;18513389;18603647;18637188;18653189;18698212;18953568;19108684;19131662;19263529;19330901;19559392;19932491;20029521;20061926;20185782;20486282;20570668;20592051;21261619;21304999;21306748;21438754;21988197;22531885;22569109;22858200;23021345;23132613;23251296;23287839;23333443;23354977;23681449;23716723;24622918;24722536;24737640;25020710","原发性高血压",null,145500,5,1,2,3,"AGT",1,47,"错义",12220,"1.00=32/32",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16658",20,20,1,{"$nulls":3},"A有","12307A","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",1,47,"错义",12220,"1.00=32/32",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"]
["12307A(99)v16658",20,20,1,{"$nulls":3},"A有","12307A","AGT","chr1:230845794","c.803A>G(E2)","p.268,M>T","rs699",0.71,0.83,0.87,0.79,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","18069999;18248681;18279468;18513389;18603647;18637188;18653189;18698212;18953568;19108684;19131662;19263529;19330901;19559392;19932491;20029521;20061926;20185782;20486282;20570668;20592051;21261619;21304999;21306748;21438754;21988197;22531885;22569109;22858200;23021345;23132613;23251296;23287839;23333443;23354977;23681449;23716723;24622918;24722536;24737640;25020710","肾小管发育不良","AR",267430,5,1,2,3,"AGT",1,47,"错义",12220,"1.00=32/32",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13426",146,145,0.99,{"$nulls":3},"A有","12307A","AGTR1","chr3:148459395","c.573C>T(E3)","p.191,L>L","rs5182",0.46,0.7,0.72,0.68,0.69,0.7,"纯合","无关","有rs号，MAF>=5%","17211857;18049108;21671168;21846682;24622918;24722536;24944790","原发性高血压",null,145500,5,1,1,2,"AGTR1",0.93,150,"同义",13203,"0.99=257/259",null,185,"3q24","NM_000685.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13426",146,145,0.99,{"$nulls":3},"A有","12307A","AGTR1","chr3:148459395","c.573C>T(E3)","p.191,L>L","rs5182",0.46,0.7,0.72,0.68,0.69,0.7,"纯合","无关","有rs号，MAF>=5%","17211857;18049108;21671168;21846682;24622918;24722536;24944790","肾小管发育不良","AR",267430,5,1,1,2,"AGTR1",0.93,150,"同义",13203,"0.99=257/259",null,185,"3q24","NM_000685.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27451",7,7,1,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,1,0,"AGTR2",1,150,"非编码区",14300,"1.00=7/7",null,186,"Xq22-q23","NM_000686.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21686",145,72,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"AGXT2",1,230,"非编码区",14200,"0.52=132/254",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21684",204,84,0.41,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"AGXT2",1,230,"错义",12220,"0.44=161/369",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21683",109,109,1,{"$nulls":3},"A有","12307A","AGXT2","chr5:35010138","c.1305A>G(E12)","p.435,G>G","rs466067",0.89,0.79,0.81,0.77,0.77,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AGXT2",1,230,"同义",13203,"1.00=179/179",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21685",100,100,1,{"$nulls":3},"A有","12307A","AGXT2","chr5:35033605","c.635G>A(E6)","p.212,T>I","rs180749",0.88,0.79,0.81,0.76,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",24727203,{"$nulls":3},5,null,5,0,"AGXT2",1,230,"错义",12210,"1.00=169/169",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21687",58,58,1,{"$nulls":3},"A有","12307A","AGXT2","chr5:35037115","c.418C>T(E4)","p.140,V>I","rs37369",0.39,0.56,0.53,0.58,0.55,0.58,"纯合","无关","有rs号，MAF>=5%","21572414;21931564;23023372;24159190;24727203;24834905",{"$nulls":3},5,null,5,0,"AGXT2",1,230,"错义",12220,"1.00=100/100",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1617",112,50,0.45,{"$nulls":3},"A有","12307A","AHCTF1","chr1:247006051","c.6580G>C(E35)","p.2194,L>V","rs12410563",0.22,0.19,0.21,0.17,0.17,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AHCTF1",1,270,"错义",12220,"0.47=91/192",null,25909,"1q44","NM_015446.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1618",156,70,0.45,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"AHCTF1",1,270,"错义",12220,"0.46=118/255",null,25909,"1q44","NM_015446.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4822",12,11,0.92,{"$nulls":3},"A有","12307A","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",1,61,"非编码区",14200,"0.94=17/18",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"]
["12307A(99)v758",27,18,0.67,{"$nulls":3},"A有","12307A","AHCYL2","chr7:129067053","m.2063T>C(E17)","非编码区","rs4728164",0.33,0.61,0.6,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AHCYL2",0.91,170,"非编码区",14200,"0.70=21/30",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"]
["12307A(99)v23959",2,2,1,{"$nulls":3},"A有","12307A","AHDC1","chr1:27875824","c.2803C>T(E6)","p.935,A>T","rs4908364",1,1,1,1,0.84,1,"纯合","无关","有rs号，MAF>=5%",null,"XIA-GIBBS综合征","AD",615829,5,1,1,1,"AHDC1",0.9,9,"错义",12220,"1.00=2/2",null,27245,"1p36.13","NM_001029882.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v898",28,15,0.54,{"$nulls":3},"A有","12307A","AHI1","chr6:135606565","m.4046G>A(E27)","非编码区","rs1052502",0.31,0.11,0.11,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",null,"Joubert综合征3型","AR",608629,5,3,2,1,"AHI1",1,300,"非编码区",14200,"0.48=16/33",null,54806,"6q23.3","NM_001134830.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v897",236,119,0.5,{"$nulls":3},"A有","12307A","AHI1","chr6:135606755","m.3856C>G(E27)","非编码区","rs9494209",0.13,0.07,0.067,0.073,0.066,0.074,"杂合","无关","有rs号，MAF>=5%",null,"Joubert综合征3型","AR",608629,5,3,2,1,"AHI1",1,300,"非编码区",14200,"0.47=210/448",null,54806,"6q23.3","NM_001134830.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16847",162,77,0.48,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,14,0,"AHNAK",1,210,"同义",13103,"0.46=140/302",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16849",69,31,0.45,{"$nulls":3},"A有","12307A","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",{"$nulls":4},2,null,14,0,"AHNAK",1,210,"错义",12110,"0.46=53/115",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16846",55,24,0.44,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,14,0,"AHNAK",1,210,"同义",13103,"0.38=35/93",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16853",156,61,0.39,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,14,0,"AHNAK",1,210,"同义",13103,"0.42=118/282",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16842",94,54,0.57,{"$nulls":3},"A有","12307A","AHNAK","chr11:62288649","c.13240G>C(E5)","p.4414,L>V","rs77865984",0.033,0.16,0.16,0.17,0.15,0.15,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,14,0,"AHNAK",1,210,"错义",12120,"0.57=85/148",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16850",121,56,0.46,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,14,0,"AHNAK",1,210,"错义",12120,"0.42=84/200",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16845",120,120,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,14,0,"AHNAK",1,210,"错义",12220,"0.99=186/187",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16841",243,118,0.49,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,14,0,"AHNAK",1,210,"错义",12120,"0.49=226/460",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16843",98,44,0.45,{"$nulls":3},"A有","12307A","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",{"$nulls":4},2,null,14,0,"AHNAK",1,210,"错义",12110,"0.45=64/141",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16851",111,51,0.46,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,14,0,"AHNAK",1,210,"错义",12120,"0.46=72/158",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16852",103,56,0.54,{"$nulls":3},"A有","12307A","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",{"$nulls":4},2,null,14,0,"AHNAK",1,210,"错义",12110,"0.53=93/174",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16848",127,57,0.45,{"$nulls":3},"A有","12307A","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",{"$nulls":4},2,null,14,0,"AHNAK",1,210,"错义",12110,"0.43=96/224",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16844",93,42,0.45,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,14,0,"AHNAK",1,210,"同义",13203,"0.45=66/148",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16854",30,9,0.3,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,14,0,"AHNAK",1,210,"插入非移码",2223,"0.29=9/31",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7655",26,14,0.54,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"非编码区",14200,"0.55=24/44",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7672",72,31,0.43,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12210,"0.45=49/110",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7607",44,17,0.39,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.41=33/81",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7665",46,20,0.43,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.47=34/72",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7667",26,15,0.58,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.55=18/33",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7629",63,31,0.49,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.51=66/129",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7663",47,32,0.68,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.72=58/80",null,113146,"14q32.33","NM_138420.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7608",32,11,0.34,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.31=17/55",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7627",37,17,0.46,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.47=27/58",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7631",60,28,0.47,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.40=39/97",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7644",60,30,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.48=50/104",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7657",61,32,0.52,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.52=58/111",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7626",72,38,0.53,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13103,"0.52=64/123",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7632",54,30,0.56,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.53=47/89",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7603",45,16,0.36,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13103,"0.37=27/73",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7666",45,18,0.4,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13103,"0.40=29/72",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7635",45,18,0.4,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,78,0,"AHNAK2",1,79,"错义",12120,"0.39=29/74",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7617",53,23,0.43,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.42=37/88",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7640",37,17,0.46,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.40=23/58",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7606",65,30,0.46,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12210,"0.47=45/96",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7645",60,28,0.47,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.44=41/94",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7664",68,30,0.44,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12210,"0.45=45/101",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7661",30,16,0.53,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.48=22/46",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7618",32,13,0.41,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12210,"0.42=26/62",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7648",62,31,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.50=47/94",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7658",61,30,0.49,{"$nulls":3},"A有","12307A","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,78,0,"AHNAK2",1,79,"错义",12320,"0.49=47/95",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"]
["12307A(99)v7615",44,19,0.43,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105412541","c.9247C>T(E7)","p.3083,V>I","rs12433837",0.52,0.38,0.41,0.34,0.37,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.34=24/70",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"]
["12307A(99)v7609",44,19,0.43,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105412542","c.9246A>G(E7)","p.3082,D>D","rs12433815",0.52,0.38,0.41,0.34,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.34=24/70",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"]
["12307A(99)v7649",44,20,0.45,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105412554","c.9234T>G(E7)","p.3078,G>G","rs12436986",0.51,0.38,0.4,0.34,0.36,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.36=25/70",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"]
["12307A(99)v7637",48,30,0.62,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105413204","c.8584G>T(E7)","p.2862,R>S","rs2582514",0.57,0.38,0.41,0.34,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.60=42/70",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"]
["12307A(99)v7670",47,27,0.57,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105413223","c.8565A>G(E7)","p.2855,D>D","rs55797226",0.53,0.42,0.44,0.39,0.44,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.58=38/65",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"]
["12307A(99)v7602",43,23,0.53,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105413575","c.8213C>T(E7)","p.2738,S>N",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,78,0,"AHNAK2",1,79,"错义",12420,"0.55=39/71",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7652",44,22,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.48=32/67",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7669",43,20,0.47,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.45=31/69",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7621",51,51,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12210,"1.00=78/78",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7625",35,19,0.54,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12210,"0.52=27/52",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7622",79,32,0.41,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.38=46/122",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7610",73,43,0.59,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13103,"0.60=71/118",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7662",80,34,0.42,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.40=51/127",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7671",53,53,1,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,78,0,"AHNAK2",1,79,"错义",12320,"0.99=90/91",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7598",68,27,0.4,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.43=52/120",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7650",65,28,0.43,{"$nulls":3},"A有","12307A","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,78,0,"AHNAK2",1,79,"同义",13303,"0.43=50/117",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"]
["12307A(99)v7634",41,14,0.34,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105415577","c.6211G>A(E7)","p.2071,L>L","rs375265904",{"$nulls":4},0.16,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13303,"0.31=21/67",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7653",27,23,0.85,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105415607","c.6181C>T(E7)","p.2061,V>M","rs112699389",0.0072,0.038,0.019,0.058,0.041,0.043,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,78,0,"AHNAK2",1,79,"错义",12120,"0.83=35/42",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7638",26,23,0.88,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13103,"0.88=37/42",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7633",23,9,0.39,{"$nulls":3},"A有","12307A","AHNAK2","chr14:105416181","c.5607C>A(E7)","p.1869,T>T","rs147709210",0.018,0.041,0.048,0.034,0.039,0.033,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13103,"0.32=11/34",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7601",46,45,0.98,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,78,0,"AHNAK2",1,79,"错义",12320,"0.97=76/78",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7674",19,19,1,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13103,"1.00=24/24",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7660",21,21,1,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,78,0,"AHNAK2",1,79,"同义",13103,"1.00=34/34",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7654",24,23,0.96,{"$nulls":3},"A有","12307A","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",{"$nulls":4},2,null,78,0,"AHNAK2",1,79,"错义",12110,"0.97=36/37",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7656",33,33,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"1.00=58/58",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7668",35,35,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"同义",13203,"0.98=65/66",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7613",27,27,1,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,78,0,"AHNAK2",1,79,"错义",12120,"1.00=46/46",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7628",28,28,1,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,78,0,"AHNAK2",1,79,"错义",12120,"1.00=49/49",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7597",42,12,0.29,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,78,0,"AHNAK2",1,79,"错义",12220,"0.26=19/72",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12810",67,32,0.48,{"$nulls":3},"A有","12307A","AIM1L","chr1:26648551","IVS19-4G>C","剪切位点","rs11247913",0.56,0.44,0.45,0.43,0.46,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AIM1L",0.75,37,"剪切位点",16202,"0.48=51/107",null,55057,"1p36.11","NM_001039775.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v558",31,18,0.58,{"$nulls":3},"A有","12307A","AIPL1","chr17:6337247","c.268C>G(E2)","p.90,D>H","rs12449580",0.18,0.38,0.4,0.35,0.29,0.33,"杂合","无关","有rs号，MAF>=5%",null,"Leber先天性黑蒙4型","AR",604393,5,3,3,2,"AIPL1",1,38,"错义",12210,"0.59=30/51",null,23746,"17p13.1","NM_001033054.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10700",75,42,0.56,{"$nulls":3},"A有","12307A","AKAP12","chr6:151674326","c.4800A>C(E4)","p.1600,E>D","rs3823310",0.44,0.44,0.45,0.43,0.4,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AKAP12",1,95,"错义",12220,"0.55=71/129",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"]
["12307A(99)v12327",21,21,1,{"$nulls":3},"A有","12307A","AKD1","chr6:109814411","m.5974C>T(E41)","非编码区","rs1054607",0.32,0.48,0.49,0.47,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AKD1",1,280,"非编码区",14200,"1.00=22/22",null,221264,"6q21","NM_001145128.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11270",373,229,0.61,{"$nulls":3},"A有","12307A","AKR1C1","chr10:5010572","c.441A>G(E4)","p.147,T>T","rs1138600",1,1,1,1,0.55,1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AKR1C1",1,410,"同义",13203,"0.55=370/674",null,1645,"10p15-p14","NM_001353.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24433",141,140,0.99,{"$nulls":3},"A有","12307A","ALCAM","chr3:105260596","c.978T>C(E8)","p.326,A>A","rs599278",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ALCAM",1,280,"同义",13203,"0.99=231/233",null,214,"3q13.1","NM_001243280.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10270",46,19,0.41,{"$nulls":3},"A有","12307A","ALG10B","chr12:38710819","c.124C>T(E1)","p.42,L>L","rs74618076",0.15,0.47,0.45,0.49,0.43,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ALG10B",1,250,"同义",13203,"0.48=34/71",null,144245,"12q12","NM_001013620.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2080",144,72,0.5,{"$nulls":3},"A有","12307A","ALOX12","chr17:6904934","c.965A>G(E8)","p.322,N>S","rs434473",0.34,0.47,0.47,0.48,0.49,0.49,"杂合","无关","有rs号，MAF>=5%","18640486;19774229;20061896;20626912;21455317;24686056",{"$nulls":3},5,null,4,0,"ALOX12",0.97,110,"错义",12220,"0.50=122/243",null,239,"17p13.1","NM_000697.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10204",8,8,1,{"$nulls":3},"A有","12307A","ALOXE3","chr17:8021608","c.97G>C(E2)","p.33,P>A","rs3027229",0.14,0.06,0.038,0.083,0.065,0.03,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病3型","AR",606545,5,1,2,1,"ALOXE3",1,71,"错义",12220,"1.00=13/13",null,59344,"17p13.1","NM_001165960.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8962",73,21,0.29,{"$nulls":3},"A有","12307A","ALPP","chr2:233245958","IVS9-3C>A","剪切位点","rs200610301",{"$nulls":5},0.046,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,4,0,"ALPP",1,85,"剪切位点",16301,"0.23=28/123",null,250,"2q37","NM_001632.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13603",169,69,0.41,{"$nulls":3},"A有","12307A","AMACR","chr5:33998883","c.602A>G(E4)","p.201,L>S","rs2287939",0.71,0.86,0.86,0.85,0.84,0.83,"杂合","无关","有rs号，MAF>=5%","20445798;20875727;20945498","先天性胆汁合成障碍4型","AR",214950,5,3,3,2,"AMACR",0.91,130,"错义",12220,"0.40=117/292",null,23600,"5p13","NM_001167595.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27489",9,4,0.44,{"$nulls":3},"A有","12307A","AMIGO2","chr12:47471037","m.2404A>C(E3)","非编码区","rs854889",0.9,0.78,0.77,0.78,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AMIGO2",1,130,"非编码区",14200,"0.42=5/12",null,347902,"12q13.11","NM_001143668.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1388",84,84,1,{"$nulls":3},"A有","12307A","ANKDD1A","chr15:65236875","c.1092T>C(E12)","p.364,A>A","rs2414865",0.55,0.43,0.44,0.41,0.39,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ANKDD1A",0.92,61,"同义",13203,"1.00=144/144",null,348094,"15q22.31","NM_182703.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31399",57,23,0.4,{"$nulls":3},"A有","12307A","ANKRD1","chr10:92672564","m.1267T>C(E9)","非编码区","rs3939",0.35,0.39,0.41,0.36,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ANKRD1",1,230,"非编码区",14200,"0.41=32/78",null,27063,"10q23.31","NM_014391.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9477",71,36,0.51,{"$nulls":3},"A有","12307A","ANKRD17","chr4:73942678","c.7731C>T(E33)","p.2577,T>T","rs2306058",0.18,0.3,0.28,0.32,0.28,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ANKRD17",0.99,210,"同义",13203,"0.51=61/120",null,26057,"4q13.3","NM_032217.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4590",63,32,0.51,{"$nulls":3},"A有","12307A","ANKRD28","chr3:15727823","IVS18-7A>G","剪切位点","rs7630642",0.28,0.54,0.59,0.49,null,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ANKRD28",1,270,"剪切位点",16202,"0.53=59/112",null,23243,"3p25.1","NM_001195098.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2588",451,293,0.65,{"$nulls":3},"A有","12307A","ANKRD36","chr2:97830053","IVS19+5A>G","剪切位点","rs112213180",{"$nulls":4},0.5,0.29,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,5,0,"ANKRD36",1,410,"剪切位点",16302,"0.66=526/793",null,375248,"2q11.2","NM_001164315.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v366",133,62,0.47,{"$nulls":3},"A有","12307A","ANKRD6","chr6:90338863","c.1518C>T(E15)","p.506,C>C","rs9353687",0.17,0.25,0.24,0.27,0.24,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ANKRD6",1,130,"同义",13203,"0.45=111/249",null,22881,"6q14.2-q16.1","NM_001242809.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5151",121,58,0.48,{"$nulls":3},"A有","12307A","ANO2","chr12:5744372","c.1762T>C(E17)","p.588,I>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ANO2",1,170,"错义",12420,"0.43=95/223",null,57101,"12p13.3","NM_020373.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28082",172,85,0.49,{"$nulls":3},"A有","12307A","ANXA13","chr8:124696867","c.937C>T(E11)","p.313,V>I","rs2294015",0.7,0.53,0.52,0.53,0.5,0.5,"杂合","无关","有rs号，MAF>=5%","19369658;21184583",{"$nulls":3},5,null,2,0,"ANXA13",1,250,"错义",12220,"0.46=146/319",null,312,"8q24.13","NM_001003954.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30634",12,8,0.67,{"$nulls":3},"A有","12307A","AP3D1","chr19:2116281","IVS17-4T>C","剪切位点","rs2240656",0.25,0.37,0.4,0.33,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AP3D1",0.95,50,"剪切位点",16202,"0.62=13/21",null,8943,"19p13.3","NM_001261826.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25115",13,6,0.46,{"$nulls":3},"A有","12307A","AP4M1","chr7:99699169","m.40A>T(E1)","非编码区","rs1534310",0.28,0.38,0.36,0.41,0.24,null,"杂合","无关","有rs号，MAF>=5%",null,"大脑性瘫痪,痉挛性四肢瘫3型/常染色体隐性遗传的痉挛性截瘫50","AR",612936,5,3,2,1,"AP4M1",1,81,"非编码区",14200,"0.46=6/13",null,9179,"7q22.1","NM_004722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27319",62,62,1,{"$nulls":3},"A有","12307A","APC","chr5:112175770","c.4479G>A(E16)","p.1493,T>T","rs41115",0.67,0.8,0.78,0.81,0.79,0.82,"纯合","无关","有rs号，MAF>=5%","14724163;16569251;19777185;20333795;24861525","遗传性硬纤维瘤病","AD",135290,5,1,7,5,"APC",0.98,190,"同义",13203,"1.00=94/94",null,324,"5q21-q22","NM_000038.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12771",57,26,0.46,{"$nulls":3},"A有","12307A","APOB","chr2:21231387","c.8353T>G(E26)","p.2785,N>H","rs2163204",0.012,0.038,0.024,0.053,0.056,0.059,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"常染色体显性B型高胆固醇血症","AD",144010,3,1,5,2,"APOB",0.99,140,"错义",12120,"0.45=42/93",null,338,"2p24-p23","NM_000384.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24724",9,9,1,{"$nulls":3},"A有","12307A","APOBEC3B","chr22:39382079","c.437C>A(E3)","p.146,T>K","rs5995649",0.95,0.97,0.97,0.97,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"APOBEC3B",1,98,"错义",12230,"1.00=15/15",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"]
["12307A(99)v10749",14,8,0.57,{"$nulls":3},"A有","12307A","APOD","chr3:195295661","m.1042C>T(E5)","非编码区","rs7659",0.46,0.46,0.47,0.46,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"APOD",1,170,"非编码区",14200,"0.60=9/15",null,347,"3q26.2-qter","NM_001647.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20997",59,59,1,{"$nulls":3},"A有","12307A","AQPEP","chr5:115339086","IVS12+9A>G","非编码区","rs6594929",0.81,0.78,0.81,0.74,null,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AQPEP",0.96,230,"非编码区",16203,"1.00=87/87",null,206338,"5q23.1","NM_173800.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20842",14,14,1,{"$nulls":3},"A有","12307A","AREGB","chr4:75482263","IVS2+9A>G","非编码区","rs201229958",{"$nulls":5},1,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"AREGB",0.95,290,"非编码区",16303,"1.00=20/20",null,727738,"4q13.3","XM_001125684.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12415",74,36,0.49,{"$nulls":3},"A有","12307A","ARHGAP30","chr1:161017556","c.3255C>T(E12)","p.1085,R>R","rs2774279",0.22,0.11,0.12,0.097,0.12,0.15,"杂合","无关","有rs号，MAF>=5%","16699592;18097648;18276913;18974842;24722012",{"$nulls":3},5,null,2,0,"ARHGAP30",1,88,"同义",13203,"0.45=52/115",null,257106,"1q23.3","NM_001025598.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30067",63,30,0.48,{"$nulls":3},"A有","12307A","ARHGAP9","chr12:57873042","c.148T>C(E1)","p.50,R>G","rs33927108",0.063,0.17,0.11,0.23,0.15,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ARHGAP9",0.98,74,"错义",12210,"0.52=50/96",null,64333,"12q13.3","NM_001080157.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5439",4,4,1,{"$nulls":3},"A有","12307A","ARHGEF18","chr19:7504669","m.96C>T(E1)","非编码区","rs11668829",0.35,0.4,0.42,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ARHGEF18",0.85,56,"非编码区",14200,"1.00=5/5",null,23370,"19p13.3","NM_001130955.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21236",108,108,1,{"$nulls":3},"A有","12307A","ARHGEF3","chr3:56771251","c.1099A>C(E11)","p.367,L>V","rs3772219",0.41,0.39,0.43,0.34,0.34,0.43,"纯合","无关","有rs号，MAF>=5%",18499081,{"$nulls":3},5,null,3,0,"ARHGEF3",1,180,"错义",12210,"0.99=185/186",null,50650,"3p14.3","NM_001128615.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18788",50,50,1,{"$nulls":3},"A有","12307A","ARL5C","chr17:37319029","c.190T>G(E3)","p.64,M>L","rs544198",0.24,0.26,0.23,0.3,0.24,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ARL5C",1,96,"错义",12210,"1.00=84/84",null,390790,"17q12","NM_001143968.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18572",177,177,1,{"$nulls":3},"A有","12307A","ARMC9","chr2:232087475","c.539T>A(E6)","p.180,I>K","rs1626451",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ARMC9",0.81,170,"错义",12230,"1.00=356/357",null,80210,"2q37.1","NM_001271466.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23428",17,5,0.29,{"$nulls":3},"A有","12307A","ARSE","chrX:2856155","c.1270C>T(E9)","p.424,G>S","rs35143646",null,0.91,0.92,0.89,0.76,0.89,"杂合","可能相关","蛋白结构预测结果为有害",null,"先天性点状软骨发育不全症1型","XR",302950,2,3,3,1,"ARSE",1,170,"错义",12310,"0.26=6/23",null,415,"Xp22.3","NM_000047.2","位于基因组多拷贝区域+DNA结构正常","疑似阳性,X染色体可能失活"]
["12307A(99)v21639",26,13,0.5,{"$nulls":3},"A有","12307A","ASB16","chr17:42255097","IVS4+7T>C","非编码区","rs3826412",0.57,0.76,0.74,0.78,null,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ASB16",0.88,16,"非编码区",16203,"0.47=17/36",null,92591,"17q21.31","NM_080863.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11785",6,6,1,{"$nulls":3},"A有","12307A","ASB9","chrX:15288193","m.101T>C(E1)","非编码区","rs899646",null,0.7,0.72,0.69,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ASB9",1,210,"非编码区",14300,"1.00=6/6",null,140462,"-","NM_001031739.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v772",42,17,0.4,{"$nulls":3},"A有","12307A","ASNSD1","chr2:190531615","c.757T>C(E4)","p.253,L>L","rs3828267",0.15,0.14,0.16,0.13,0.11,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ASNSD1",1,170,"同义",13203,"0.39=28/72",null,54529,"2p24.3-q21.3","NM_019048.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14066",65,32,0.49,{"$nulls":3},"A有","12307A","ASPM","chr1:197070697","c.7684T>C(E18)","p.2562,S>G","rs41310927",0.21,0.18,0.15,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",20080800,"常染色体隐性原发性小头畸形5型","AR",608716,5,3,13,1,"ASPM",1,180,"错义",12210,"0.48=47/97",null,259266,"1q31","NM_018136.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13974",100,100,1,{"$nulls":3},"A有","12307A","ASXL3","chr18:31320229","c.2861A>G(E11)","p.954,N>S","rs2282632",0.7,0.9,0.9,0.91,0.88,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Bainbridge-Ropers综合征","AD",615485,5,1,4,1,"ASXL3",1,160,"错义",12220,"1.00=154/154",null,80816,"18q11","NM_030632.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13385",19,11,0.58,{"$nulls":3},"A有","12307A","ATF5","chr19:50435998","c.498C>T(E3)","p.166,C>C","rs34877198",0.083,0.099,0.09,0.11,0.067,0.095,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ATF5",1,32,"同义",13203,"0.52=13/25",null,22809,"19q13.3","NM_001193646.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1934",198,95,0.48,{"$nulls":3},"A有","12307A","ATL1","chr14:51057727","c.351G>A(E4)","p.117,E>E","rs1060197",0.82,0.84,0.86,0.81,0.83,0.82,"杂合","无关","有rs号，MAF>=5%",null,"遗传性痉挛性截瘫3A型","AD",182600,5,1,1,2,"ATL1",1,310,"同义",13203,"0.46=170/367",null,51062,"14q22.1","NM_001127713.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16525",155,155,1,{"$nulls":3},"A有","12307A","ATP11C","chrX:138811003","m.3515G>A(E29)","非编码区","rs2094702",null,1,1,1,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ATP11C",1,330,"非编码区",14300,"1.00=272/273",null,286410,"Xq27.1","NM_001010986.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7763",107,43,0.4,{"$nulls":3},"A有","12307A","ATP1B3","chr3:141626123","IVS3+7A>G","非编码区","rs3792411",0.089,0.13,0.14,0.11,null,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ATP1B3",1,220,"非编码区",16203,"0.40=83/207",null,483,"3q23","NM_001679.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22748",56,31,0.55,{"$nulls":3},"A有","12307A","ATP4B","chr13:114303764","c.801C>T(E7)","p.267,A>A","rs17852631",0.2,0.18,0.16,0.2,0.15,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ATP4B",1,100,"同义",13203,"0.59=57/96",null,496,"13q34","NM_000705.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30107",113,44,0.39,{"$nulls":3},"A有","12307A","ATP5O","chr21:35281393","c.321A>G(E4)","p.107,N>N","rs4591",null,0.72,0.72,0.71,0.67,0.71,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ATP5O",1,290,"同义",13303,"0.35=63/180",null,539,"21q22.11","NM_001697.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15711",185,184,0.99,{"$nulls":3},"A有","12307A","ATP8B1","chr18:55317676","c.3454C>T(E27)","p.1152,A>T","rs222581",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"妊娠期肝内胆汁淤积症1型","AD",147480,5,1,3,3,"ATP8B1",1,270,"错义",12230,"1.00=374/375",null,5205,"18q21.31","NM_005603.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23891",85,85,1,{"$nulls":3},"A有","12307A","ATRN","chr20:3564672","c.2544C>T(E17)","p.848,Y>Y","rs235540",0.82,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ATRN",0.89,220,"同义",13203,"0.99=138/140",null,8455,"20p13","NM_001207047.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2606",68,34,0.5,{"$nulls":3},"A有","12307A","AWAT2","chrX:69261818","IVS6-6A>G","剪切位点","rs2281933",null,0.53,0.51,0.54,null,0.51,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"AWAT2",1,160,"剪切位点",16302,"0.53=61/115",null,158835,"Xq13.1","NM_001002254.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6433",5,5,1,{"$nulls":3},"A有","12307A","AXIN2","chr17:63533789","c.1365T>C(E6)","p.455,P>P","rs9915936",0.91,0.82,0.8,0.84,0.75,0.85,"纯合","无关","有rs号，MAF>=5%","21069480;25013500","结肠癌","AD",114500,5,1,4,2,"AXIN2",1,99,"同义",13203,"1.00=8/8",null,8313,"17q23-q24","NM_004655.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9900",66,66,1,{"$nulls":3},"A有","12307A","B4GALT4","chr3:118945796","c.346G>C(E4)","p.116,Q>E","rs3764779",0.3,0.34,0.34,0.34,0.36,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"B4GALT4",1,240,"错义",12220,"1.00=114/114",null,8702,"3q13.3","NM_003778.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5238",439,142,0.32,{"$nulls":3},"A有","12307A","BAGE2","chr21:11049503","m.606T>A(E4)","非编码区","rs7280925",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,24,0,"BAGE2",1,680,"非编码区",14300,"0.32=190/589",null,85319,"21p","NM_182482.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18897",8,5,0.62,{"$nulls":3},"A有","12307A","BAHD1","chr15:40751555","c.892C>A(E2)","p.298,Q>K","rs3803357",0.68,0.79,0.79,0.8,0.71,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BAHD1",0.96,38,"错义",12220,"0.55=6/11",null,22893,"15q15.1","NM_014952.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18197",85,39,0.46,{"$nulls":3},"A有","12307A","BBS9","chr7:33644941","m.3175T>C(E22)","非编码区","rs1050719",0.55,0.58,0.58,0.58,null,null,"杂合","无关","有rs号，MAF>=5%",null,"Bardet-biedl综合征9型","AR",615986,5,3,2,1,"BBS9",1,260,"非编码区",14200,"0.44=58/131",null,27241,"7p14","NM_001033604.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5738",44,44,1,{"$nulls":3},"A有","12307A","BCL2L13","chr22:18209613","c.843A>G(E6)","p.281,S>S","rs4488761",0.67,0.92,0.91,0.94,0.86,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"BCL2L13",0.88,150,"同义",13203,"1.00=62/62",null,23786,"22q11.1","NM_001270726.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8437",216,81,0.38,{"$nulls":3},"A有","12307A","BCLAF1","chr6:136582143","m.2968A>G(E12)","非编码区","rs188600091",0.013,0.055,0.052,0.058,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,14,0,"BCLAF1",1,320,"非编码区",14100,"0.33=133/405",null,9774,"6q22-q23","NM_001077440.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17268",86,45,0.52,{"$nulls":3},"A有","12307A","BDP1","chr5:70809169","c.4405A>G(E19)","p.1469,K>E","rs1698063",0.4,0.36,0.4,0.33,0.33,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"BDP1",1,230,"错义",12220,"0.51=69/134",null,55814,"5q13","NM_018429.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11146",10,10,1,{"$nulls":3},"A有","12307A","BFSP1","chr20:17474690","m.1923T>G(E8)","非编码区","rs6105762",0.51,0.46,0.47,0.46,null,0.46,"纯合","无关","有rs号，MAF>=5%",null,"青少年皮质性白内障",null,611391,5,1,5,1,"BFSP1",0.87,91,"非编码区",14200,"0.95=18/19",null,631,"20p12.1","NM_001161705.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25754",25,15,0.6,{"$nulls":3},"A有","12307A","BIN1","chr2:127821499","IVS7+10T>C","非编码区","rs72481904",0.35,0.43,0.49,0.36,0.4,0.4,"杂合","无关","有rs号，MAF>=5%",null,"中央核肌病2型","AR",255200,5,3,3,1,"BIN1",1,40,"非编码区",16203,"0.58=26/45",null,274,"2q14","NM_004305.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29208",21,8,0.38,{"$nulls":3},"A有","12307A","BMP4","chr14:54417522","c.455A>G(E4)","p.152,V>A","rs17563",0.33,0.31,0.29,0.32,0.25,0.27,"杂合","无关","有rs号，MAF>=5%","18021008;18551993;19011631;19557432;20057906;22052794;22191848;22886282;23704328;24559233","口面裂11型",null,600625,5,2,1,2,"BMP4",1,63,"错义",12220,"0.41=12/29",null,652,"14q22-q23","NM_001202.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27131",33,33,1,{"$nulls":3},"A有","12307A","BOC","chr3:112997554","c.1737A>G(E11)","p.579,K>K","rs775228",0.62,0.67,0.61,0.74,0.71,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"BOC",0.99,72,"同义",13203,"1.00=65/65",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"]
["12307A(99)v22389",16,6,0.38,{"$nulls":3},"A有","12307A","BRAT1","chr7:2587122","IVS2-10T>C","剪切位点","rs2164688",0.46,0.38,0.4,0.35,0.39,0.36,"杂合","无关","有rs号，MAF>=5%",null,"新生儿致命性肌僵直和多重病灶型癫痫","AR",614498,5,3,3,1,"BRAT1",0.95,16,"剪切位点",16202,"0.36=8/22",null,221927,"7p22.3","NM_152743.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18184",86,86,1,{"$nulls":3},"A有","12307A","BRCA2","chr13:32913055","c.4563A>G(E11)","p.1521,L>L","rs206075",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"胰腺癌,易感2型",null,613347,5,1,7,8,"BRCA2",1,190,"同义",13203,"0.99=156/157",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"]
["12307A(99)v30173",148,148,1,{"$nulls":3},"A有","12307A","BRIP1","chr17:59763347","c.2755A>G(E19)","p.919,S>P","rs4986764",0.63,0.76,0.79,0.73,0.69,0.72,"纯合","无关","有rs号，MAF>=5%","15113441;19127258;19138047;19276285;23473757;23644138","乳腺癌，浸润性导管","AD",114480,5,1,4,2,"BRIP1",1,270,"错义",12220,"1.00=239/239",null,83990,"17q22.2","NM_032043.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9983",14,4,0.29,{"$nulls":3},"A有","12307A","BSG","chr19:582505","IVS7-9G>A","剪切位点","rs2072309",0.32,0.43,0.46,0.39,0.35,0.46,"杂合","无关","有rs号，MAF>=5%",null,"血型--OK;  OK",null,111380,5,2,2,1,"BSG",1,18,"剪切位点",16202,"0.26=6/23",null,682,"19p13.3","NM_001728.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28093",6,6,1,{"$nulls":3},"A有","12307A","BTG1","chr12:92539344","m.330T>C(E1)","非编码区","rs709223",0.85,0.72,0.74,0.7,0.66,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BTG1",1,120,"非编码区",14200,"1.00=10/10",null,694,"12q22","NM_001731.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26288",80,42,0.53,{"$nulls":3},"A有","12307A","C10orf2","chr10:102750623","IVS3-3T>C","剪切位点","rs3740486",0.38,0.58,0.59,0.56,0.44,0.55,"杂合","无关","有rs号，MAF>=5%",null,"线粒体DNA缺失综合征7型（肝脑型）/婴儿期发作的脊髓小脑性共济失调","AR",271245,5,3,4,3,"C10orf2",1,88,"剪切位点",16202,"0.56=70/125",null,56652,"10q24","NM_001163812.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23567",231,229,0.99,{"$nulls":3},"A有","12307A","C10orf68","chr10:33018351","c.792G>C(E10)","p.264,T>T","rs1414548",0.92,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C10orf68",1,430,"同义",13203,"0.99=418/421",null,79741,"10p11.22","NM_024688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27645",36,36,1,{"$nulls":3},"A有","12307A","C11orf16","chr11:8947021","c.1193A>G(E5)","p.398,L>P","rs2653588",0.89,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C11orf16",1,73,"错义",12220,"1.00=59/59",null,56673,"11p15.3","NM_020643.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15843",104,59,0.57,{"$nulls":3},"A有","12307A","C12orf54","chr12:48879951","IVS2-10T>G","剪切位点","rs11168599",0.23,0.14,0.12,0.17,0.19,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"C12orf54",1,170,"剪切位点",16202,"0.53=102/191",null,121273,"12q13.11","NM_152319.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31754",145,145,1,{"$nulls":3},"A有","12307A","C14orf101","chr14:57052511","c.225G>T(E3)","p.75,T>T","rs3737171",0.32,0.46,0.47,0.45,0.58,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C14orf101",1,270,"同义",13203,"1.00=261/262",null,54916,"14q22.3","NM_017799.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2700",28,28,1,{"$nulls":3},"A有","12307A","C15orf39","chr15:75498548","c.159A>G(E2)","p.53,A>A","rs1466663",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"C15orf39",0.98,18,"同义",13203,"1.00=54/54",null,56905,"15q24.2","NM_015492.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v941",191,67,0.35,{"$nulls":3},"A有","12307A","C16orf62","chr16:19653706-19653709","IVS21-12至IVS21-9:缺失AATG插入CAT","非编码区","rs150777929",{"$nulls":6},"杂合","无关","内含子突变",{"$nulls":4},5,null,4,0,"C16orf62",1,220,"非编码区",2500,"0.34=74/219",null,57020,"16p12.3","NM_020314.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20005",9,4,0.44,{"$nulls":3},"A有","12307A","C17orf70","chr17:79511135","c.2322A>G(E7)","p.774,T>T","rs8077430",0.7,0.78,0.8,0.77,0.66,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C17orf70",0.84,10,"同义",13203,"0.35=6/17",null,80233,"17q25.3","NM_025161.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21472",4,2,0.5,{"$nulls":3},"A有","12307A","C18orf62","chr18:73122598","m.598G>A(E3)","非编码区","rs11660753",0.2,0.21,0.17,0.25,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C18orf62",1,290,"非编码区",14200,"0.75=6/8",null,284274,"18q23","NM_001037331.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7255",26,13,0.5,{"$nulls":3},"A有","12307A","C19orf60","chr19:18703077","m.810T>C(E5)","非编码区","rs3170474",0.61,0.6,0.6,0.6,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C19orf60",0.64,18,"非编码区",14200,"0.53=18/34",null,55049,"19p13.11","NM_001100418.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6055",3,3,1,{"$nulls":3},"A有","12307A","C1QTNF4","chr11:47611316","m.1314C>G(E2)","非编码区","rs10769279",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C1QTNF4",0.69,4.2,"非编码区",14200,"1.00=3/3",null,114900,"11q11","NM_031909.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10257",39,19,0.49,{"$nulls":3},"A有","12307A","C1orf173","chr1:75037845","c.3549A>G(E14)","p.1183,S>S","rs12723334",0.38,0.59,0.57,0.61,0.57,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"C1orf173",1,190,"同义",13203,"0.50=30/60",null,127254,"1p31.1","NM_001002912.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15417",5,5,1,{"$nulls":3},"A有","12307A","C1orf94","chr1:34684621","m.2894A>G(E7)","非编码区","rs1061074",0.83,0.83,0.83,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C1orf94",1,120,"非编码区",14200,"1.00=8/8",null,84970,"1p34.3","NM_001134734.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3240",107,107,1,{"$nulls":3},"A有","12307A","C20orf194","chr20:3285140","c.1729T>C(E21)","p.577,R>G","rs2422864",0.93,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C20orf194",0.98,220,"错义",12220,"0.99=180/181",null,25943,"20p13","NM_001009984.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22894",20,9,0.45,{"$nulls":3},"A有","12307A","C2CD2","chr21:43327793","c.1119C>T(E9)","p.373,S>S","rs3746904",0.37,0.36,0.4,0.32,0.36,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C2CD2",0.92,91,"同义",13203,"0.48=16/33",null,25966,"21q22.3","NM_015500.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5548",194,82,0.42,{"$nulls":3},"A有","12307A","C2orf76","chr2:120060082","c.347T>C(E7)","p.116,K>R","rs1052500",0.66,0.46,0.44,0.49,0.47,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C2orf76",1,350,"错义",12220,"0.38=137/362",null,130355,"2q14.2","NM_001017927.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8509",78,36,0.46,{"$nulls":3},"A有","12307A","C3","chr19:6681991","c.4311G>A(E35)","p.1437,A>A","rs7951",0.091,0.099,0.13,0.063,0.11,0.11,"杂合","无关","有rs号，MAF>=5%",18174230,"补体成分3缺乏症","AR",613779,5,3,14,3,"C3",1,77,"同义",13203,"0.42=56/132",null,718,"19p13.3-p13.2","NM_000064.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4718",63,30,0.48,{"$nulls":3},"A有","12307A","C3orf20","chr3:14768534","IVS11+3A>G","剪切位点","rs7636830",0.41,0.41,0.4,0.42,null,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C3orf20",1,140,"剪切位点",16202,"0.45=53/119",null,84077,"3p25.1","NM_001184957.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14556",147,146,0.99,{"$nulls":3},"A有","12307A","C4orf47","chr4:186357523","IVS4+10C>G","非编码区","rs7697970",0.86,1,1,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C4orf47",1,310,"非编码区",16203,"1.00=252/253",null,441054,"4q35.1","NM_001114357.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1210",130,54,0.42,{"$nulls":3},"A有","12307A","C5","chr9:123783934","c.1155T>C(E11)","p.385,G>G","rs10985126",0.24,0.22,0.26,0.18,0.21,0.25,"杂合","无关","有rs号，MAF>=5%","18648537;21393613","Eculizumab药物反应差","AD",615749,5,1,4,2,"C5",1,290,"同义",13203,"0.40=84/210",null,727,"9q33-q34","NM_001735.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1416",39,39,1,{"$nulls":3},"A有","12307A","C6orf141","chr6:49518914","c.409C>G(E1)","p.137,Q>E","rs6919674",0.98,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C6orf141",1,36,"错义",12230,"1.00=68/68",null,135398,"6p12.3","NM_001145652.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30101",82,82,1,{"$nulls":3},"A有","12307A","C7orf57","chr7:48086077","c.371C>T(E5)","p.124,P>L","rs2708912",0.82,0.76,0.78,0.74,0.73,0.74,"纯合","无关","有rs号，MAF>=5%",19193627,{"$nulls":3},5,null,8,0,"C7orf57",1,170,"错义",12210,"1.00=156/156",null,136288,"7p12.3","NM_001100159.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4100",115,115,1,{"$nulls":3},"A有","12307A","C8A","chr1:57340727","c.277C>A(E3)","p.93,Q>K","rs652785",0.34,0.47,0.51,0.44,0.43,0.46,"纯合","无关","有rs号，MAF>=5%","15986317;20029952","补体成分8缺乏症1型","AR",613790,5,1,1,1,"C8A",1,190,"错义",12220,"1.00=250/250",null,731,"1p32","NM_000562.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5925",22,10,0.45,{"$nulls":3},"A有","12307A","C9orf114","chr9:131585069","c.1106A>G(E12)","p.369,I>T","rs2280843",0.6,0.74,0.69,0.79,0.76,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C9orf114",1,57,"错义",12220,"0.47=18/38",null,51490,"9q34.11","NM_016390.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23679",30,30,1,{"$nulls":3},"A有","12307A","CA6","chr1:9017204","c.268A>G(E3)","p.90,S>G","rs2274333",0.34,0.56,0.5,0.61,0.54,0.56,"纯合","无关","有rs号，MAF>=5%","20631203;21712049;23652931",{"$nulls":3},5,null,4,0,"CA6",1,160,"错义",12210,"1.00=55/55",null,765,"1p36.2","NM_001215.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28464",87,40,0.46,{"$nulls":3},"A有","12307A","CACNA1B","chr9:140777306","c.501C>G(E3)","p.167,N>K","rs4422842",{"$nulls":4},0.49,0.5,"杂合","可能相关","蛋白结构预测结果为有害",20352079,{"$nulls":3},2,null,4,0,"CACNA1B",0.94,68,"错义",12310,"0.48=74/154",null,774,"9q34","NM_000718.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6717",74,74,1,{"$nulls":3},"A有","12307A","CACNA1S","chr1:201044748","IVS12-5A>G","剪切位点","rs1998721",0.76,0.95,0.95,0.95,0.95,0.96,"纯合","无关","有rs号，MAF>=5%",null,"低血钾性周期性麻痹1型","AD",170400,5,1,8,3,"CACNA1S",1,92,"剪切位点",16202,"1.00=136/136",null,779,"1q32","NM_000069.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4348",14,4,0.29,{"$nulls":3},"A有","12307A","CACNB3","chr12:49221622","c.1395G>A(E13)","p.465,E>E","rs1045340",0.43,0.61,0.62,0.6,0.56,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CACNB3",0.97,59,"同义",13203,"0.24=5/21",null,784,"12q13","NM_000725.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23743",20,11,0.55,{"$nulls":3},"A有","12307A","CALML6","chr1:1847886","c.85C>T(E3)","p.29,R>C","rs75687095",0.0094,0.053,0.029,0.078,0.058,0.051,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"CALML6",1,46,"错义",12110,"0.55=21/38",null,163688,"1p36.33","NM_138705.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5873",50,26,0.52,{"$nulls":3},"A有","12307A","CAMK2G","chr10:75608858","c.430G>A(E7)","p.144,L>L",{"$nulls":5},2.3E-3,0.0012,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"CAMK2G",1,110,"同义",13403,"0.53=38/72",null,818,"10q22","NM_001204492.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15177",16,9,0.56,{"$nulls":3},"A有","12307A","CAPN10","chr2:241537421","c.1860G>A(E10)","p.620,A>A","rs3749166",0.51,0.65,0.63,0.67,0.6,0.66,"杂合","无关","有rs号，MAF>=5%","19416960;20119856","非胰岛素依赖型糖尿病1型",null,601283,5,2,4,1,"CAPN10",0.93,27,"同义",13203,"0.62=18/29",null,11132,"2q37.3","NM_023083.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12456",7,7,1,{"$nulls":3},"A有","12307A","CARD11","chr7:2946461","c.3276T>C(E25)","p.1092,R>R","rs1124581",0.6,0.66,0.68,0.65,0.51,0.65,"纯合","无关","有rs号，MAF>=5%",null,"持续性多克隆B淋巴细胞增多症","AD",606445,5,1,2,2,"CARD11",0.94,71,"同义",13203,"1.00=13/13",null,84433,"7p22","NM_032415.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16534",69,40,0.58,{"$nulls":3},"A有","12307A","CARD8","chr19:48737764","c.246A>G(E3)","p.82,L>L","rs2288876",0.27,0.19,0.16,0.23,null,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CARD8",0.84,140,"同义",13203,"0.58=65/113",null,22900,"19q13.33","NM_001184900.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28380",114,55,0.48,{"$nulls":3},"A有","12307A","CASP8","chr2:202141678","c.744A>G(E7)","p.248,T>T","rs35142591",0.0072,0.055,0.038,0.073,0.043,0.03,"杂合","未知","预测范围之外的同义突变",null,"乳腺癌，浸润性导管","AD",114480,4,1,4,4,"CASP8",1,210,"同义",13103,"0.51=115/226",null,841,"2q33-q34","NM_001080124.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19975",34,19,0.56,{"$nulls":3},"A有","12307A","CASS4","chr20:55033420","c.1816C>T(E6)","p.606,P>S","rs35031530",0.15,0.23,0.26,0.21,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"CASS4",1,94,"错义",12210,"0.63=36/57",null,57091,"20q13.31","NM_001164114.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3954",45,45,1,{"$nulls":3},"A有","12307A","CBFA2T3","chr16:88958282","IVS5+8C>G","非编码区","rs3743541",0.38,0.55,0.59,0.5,null,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CBFA2T3",0.83,18,"非编码区",16203,"1.00=87/87",null,863,"16q24","NM_005187.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6134",82,39,0.48,{"$nulls":3},"A有","12307A","CC2D2A","chr4:15516389","c.777C>T(E10)","p.259,H>H","rs2286976",0.096,0.36,0.35,0.36,0.33,0.36,"杂合","无关","有rs号，MAF>=5%",null,"Meckel综合征6型",null,612284,5,2,1,3,"CC2D2A",0.98,260,"同义",13203,"0.45=68/152",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"]
["12307A(99)v29672",9,5,0.56,{"$nulls":3},"A有","12307A","CCDC114","chr19:48807255","c.697C>T(E7)","p.233,D>N","rs145629439",2E-3,0.0096,0.014,0.0049,0.012,0.013,"杂合","可能相关","蛋白结构预测结果为有害",null,"原发性纤毛运动障碍20型","AR",615067,2,3,3,1,"CCDC114",0.99,41,"错义",12110,"0.67=8/12",null,93233,"19q13.33","NM_144577.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23038",5,2,0.4,{"$nulls":3},"A有","12307A","CCDC15","chr11:124910797","m.3305T>C(E16)","非编码区","rs11219874",0.19,0.42,0.47,0.37,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC15",1,280,"非编码区",14200,"0.50=3/6",null,80071,"11q24.2","NM_025004.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5888",47,47,1,{"$nulls":3},"A有","12307A","CCDC164","chr2:26676322","c.1824A>G(E14)","p.608,E>E","rs1402962",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍21型","AR",615294,5,1,5,1,"CCDC164",1,140,"同义",13203,"1.00=85/85",null,92749,"2p23.3","NM_145038.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2997",104,60,0.58,{"$nulls":3},"A有","12307A","CCDC168","chr13:103410914","c.244A>T(E2)","p.82,C>S","rs12855785",0.38,0.36,0.37,0.35,0.34,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,23,0,"CCDC168",1,130,"错义",12210,"0.54=83/155",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"]
["12307A(99)v10763",140,140,1,{"$nulls":3},"A有","12307A","CCDC38","chr12:96288860","c.679T>C(E8)","p.227,M>V","rs10859974",0.25,0.42,0.4,0.44,0.45,0.42,"纯合","无关","有rs号，MAF>=5%",24786987,{"$nulls":3},5,null,3,0,"CCDC38",1,280,"错义",12220,"1.00=262/263",null,120935,"12q23.1","NM_182496.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3961",19,19,1,{"$nulls":3},"A有","12307A","CCDC51","chr3:48474249","c.805A>G(E4)","p.269,L>L","rs2279077",0.32,0.27,0.25,0.28,0.24,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC51",1,39,"同义",13203,"1.00=29/29",null,79714,"3p21.31","NM_001256964.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31475",136,136,1,{"$nulls":3},"A有","12307A","CCDC67","chr11:93141580","c.1510C>A(E12)","p.504,Q>K","rs2259633",0.83,0.91,0.88,0.94,0.87,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CCDC67",1,310,"错义",12220,"1.00=229/229",null,159989,"11q21","NM_181645.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9423",30,15,0.5,{"$nulls":3},"A有","12307A","CCDC90B","chr11:82996986","c.30A>C(E1)","p.10,F>L","rs494791",0.68,0.59,0.58,0.6,0.5,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCDC90B",1,310,"错义",12220,"0.45=25/56",null,60492,"11q14.1","NM_021825.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18075",8,8,1,{"$nulls":3},"A有","12307A","CCL11","chr17:32614847","m.573A>T(E3)","非编码区","rs76028040",0.88,0.93,0.93,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",null,"人类免疫缺陷病毒易感1型",null,609423,5,1,3,2,"CCL11",1,240,"非编码区",14200,"1.00=9/9",null,6356,"17q21.1-q21.2","NM_002986.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20555",9,5,0.56,{"$nulls":3},"A有","12307A","CCT2","chr12:69979517","m.56C>T(E1)","非编码区","rs2601006",0.42,0.26,0.23,0.29,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CCT2",1,280,"非编码区",14200,"0.56=5/9",null,10576,"12q15","NM_001198842.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17908",198,98,0.49,{"$nulls":3},"A有","12307A","CD109","chr6:74493432","c.2108A>C(E19)","p.703,Y>S","rs10455097",0.52,0.54,0.57,0.5,0.53,0.52,"杂合","无关","有rs号，MAF>=5%",20661308,{"$nulls":3},5,null,4,0,"CD109",0.99,300,"错义",12220,"0.47=171/367",null,135228,"6q13","NM_001159587.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26427",93,46,0.49,{"$nulls":3},"A有","12307A","CD163L1","chr12:7585971","c.444A>G(E3)","p.148,Y>Y","rs10845159",null,0.39,0.39,0.38,0.37,0.36,"杂合","未知","剪切位点预测容忍或无害的同义突变",{"$nulls":4},4,null,7,0,"CD163L1",1,150,"剪切位点",13302,"0.48=74/154",null,283316,"12p13.3","NM_174941.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11113",35,35,1,{"$nulls":3},"A有","12307A","CD209","chr19:7806723","m.2076G>A(E5)","非编码区","rs1544766",0.86,0.68,0.72,0.64,null,null,"纯合","无关","有rs号，MAF>=5%",null,"结核分枝杆菌易感",null,607948,5,1,8,3,"CD209",1,120,"非编码区",14200,"1.00=61/61",null,30835,"19p13","NM_001144893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11116",3,3,1,{"$nulls":3},"A有","12307A","CD209","chr19:7807027","m.1772A>G(E5)","非编码区","rs7248637",0.77,0.69,0.73,0.64,null,null,"纯合","无关","有rs号，MAF>=5%",null,"结核分枝杆菌易感",null,607948,5,1,8,3,"CD209",1,120,"非编码区",14200,"1.00=4/4",null,30835,"19p13","NM_001144893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15055",38,38,1,{"$nulls":3},"A有","12307A","CD300LF","chr17:72691928","c.653T>C(E6)","p.218,Q>R","rs2034310",0.71,0.69,0.69,0.69,0.69,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CD300LF",1,110,"错义",12220,"1.00=66/66",null,146722,"17q25.1","NM_139018.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v526",9,5,0.56,{"$nulls":3},"A有","12307A","CD82","chr11:44640268","c.646A>G(E8)","p.216,I>V","rs1139971",0.59,0.47,0.44,0.5,0.42,0.49,"杂合","无关","有rs号，MAF>=5%",null,"前列腺癌","AD",176807,5,1,6,1,"CD82",1,61,"错义",12220,"0.62=10/16",null,3732,"11p11.2","NM_001024844.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7069",153,153,1,{"$nulls":3},"A有","12307A","CD96","chr3:111356083","c.1362G>C(E11)","p.454,P>P","rs1533270",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"三角头畸形","AR",211750,5,1,3,1,"CD96",1,310,"同义",13203,"1.00=287/288",null,10225,"3q13.13-q13.2","NM_005816.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13043",139,63,0.45,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"CDC37L1",1,230,"同义",13203,"0.44=102/231",null,55664,"9p24.1","NM_017913.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30316",90,90,1,{"$nulls":3},"A有","12307A","CDH1","chr16:68857441","c.2076T>C(E13)","p.692,A>A","rs1801552",0.72,0.65,0.62,0.68,0.64,0.64,"纯合","无关","有rs号，MAF>=5%","22535324;24838934","前列腺癌","AD",176807,5,1,3,5,"CDH1",0.98,160,"同义",13203,"1.00=162/162",null,999,"16q22.1","NM_004360.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27897",89,89,1,{"$nulls":3},"A有","12307A","CDH13","chr16:83817019","c.2217A>G(E14)","p.739,A>A","rs1048612",0.82,0.8,0.79,0.81,0.77,0.79,"纯合","无关","有rs号，MAF>=5%",24142632,{"$nulls":3},5,null,2,0,"CDH13",0.9,170,"同义",13203,"1.00=173/173",null,1012,"16q23.3","NM_001220488.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14921",27,11,0.41,{"$nulls":3},"A有","12307A","CDH23","chr10:73501556","c.4723G>A(E38)","p.1575,A>T","rs1227051",0.73,0.86,0.84,0.88,0.73,0.83,"杂合","无关","有rs号，MAF>=5%","16598924;24767429","尤塞氏综合症ID型","AR",601067,5,3,21,2,"CDH23",0.99,66,"错义",12220,"0.43=18/42",null,64072,"10q22.1","NM_022124.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7814",2,2,1,{"$nulls":3},"A有","12307A","CDH4","chr20:59894256-59894260","UTR:缺失TATAA","非编码区","rs138045793",0.18,0.3,0.28,0.32,null,null,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,5,0,"CDH4",0.96,61,"非编码区",2600,"1.00=2/2",null,1002,"20q13.3","NM_001252338.1","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12307A(99)v16774",3,3,1,{"$nulls":3},"A有","12307A","CDHR5","chr11:617967","c.2087C>G(E14)","p.696,C>S","rs2740379",0.98,1,1,1,0.81,1,"纯合","无关","有rs号，MAF>=5%",21839066,{"$nulls":3},5,null,4,0,"CDHR5",0.97,24,"错义",12230,"1.00=5/5",null,53841,"11p15.5","NM_001171968.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20252",125,125,1,{"$nulls":3},"A有","12307A","CDK15","chr2:202712095","IVS8-9A>C","剪切位点","rs917958",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CDK15",0.9,230,"剪切位点",16202,"1.00=226/226",null,65061,"2q33.2","NM_001261435.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18095",17,5,0.29,{"$nulls":3},"A有","12307A","CDRT4","chr17:15341022","m.808T>G(E4)","非编码区","rs2954757",0.37,0.51,0.56,0.47,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDRT4",1,140,"非编码区",14200,"0.26=5/19",null,284040,"17p12","NM_001204477.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12839",11,11,1,{"$nulls":3},"A有","12307A","CDX2","chr13:28537242","m.1314A>C(E3)","非编码区","rs1805108",0.73,0.82,0.83,0.81,null,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CDX2",0.76,15,"非编码区",14200,"1.00=16/16",null,1045,"13q12.3","NM_001265.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26315",125,38,0.3,{"$nulls":3},"A有","12307A","CEACAM21","chr19:42083739-42083740","c.252(E2)至c.253(E2):插入GAC","插入非移码","rs372193692",null,0.34,0.31,0.36,0.06,0.37,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"CEACAM21",1,120,"插入非移码",2231,"0.28=39/138",null,90273,"19q13.2","NM_001098506.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18497",21,21,1,{"$nulls":3},"A有","12307A","CELA3B","chr1:22307358","c.171C>G(E3)","p.57,T>T","rs7528300",0.85,0.72,0.77,0.67,0.62,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"CELA3B",1,110,"同义",13203,"1.00=32/32",null,23436,"1p36.12","NM_007352.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23859",36,36,1,{"$nulls":3},"A有","12307A","CENPF","chr1:214837110","c.9318C>G(E20)","p.3106,N>K","rs7289",0.63,0.93,0.94,0.91,0.88,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CENPF",1,140,"错义",12220,"1.00=57/57",null,1063,"1q41","NM_016343.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24287",133,49,0.37,{"$nulls":3},"A有","12307A","CEP170","chr1:243328887","c.2081G>T(E12)","p.694,S>X","rs2728433",{"$nulls":4},0.32,0.22,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,4,0,"CEP170",1,240,"截断",15300,"0.35=70/199",null,9859,"1q44","NM_001042404.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18865",111,52,0.47,{"$nulls":3},"A有","12307A","CEP192","chr18:13059173","c.4350A>G(E21)","p.1450,P>P","rs115165883",0.009,0.026,0.019,0.034,0.053,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"CEP192",1,230,"同义",13103,"0.50=90/181",null,55125,"18p11.21","NM_032142.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8211",108,38,0.35,{"$nulls":3},"A有","12307A","CERK","chr22:47083012","m.1740T>A(E13)","非编码区","rs2748349",0.48,0.36,0.34,0.38,null,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CERK",0.91,120,"非编码区",14200,"0.36=69/191",null,64781,"22q13.31","NM_022766.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28385",205,205,1,{"$nulls":3},"A有","12307A","CFH","chr1:196695742","c.2016A>G(E13)","p.672,Q>Q","rs3753396",0.2,0.53,0.5,0.55,0.49,0.5,"纯合","无关","有rs号，MAF>=5%","18048322;18162041;18421087;18483746;19162324;19861685;19958499;20157618","非典型溶血性尿毒症综合征，易感1型","AD,AR",235400,5,1,6,4,"CFH",1,360,"同义",13203,"1.00=348/348",null,3075,"1q32","NM_000186.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25230",85,85,1,{"$nulls":3},"A有","12307A","CFHR1","chr1:196797238","c.469C>T(E4)","p.157,H>Y","rs425757",{"$nulls":4},0.35,0.36,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"非典型溶血性尿毒症综合征，易感1型","AD,AR",235400,3,1,8,2,"CFHR1",1,410,"错义",12320,"0.99=143/144",null,3078,"1q32","NM_002113.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22848",224,224,1,{"$nulls":3},"A有","12307A","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",1,230,"同义",13203,"1.00=423/424",null,1080,"7q31.2","NM_000492.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25871",31,31,1,{"$nulls":3},"A有","12307A","CGREF1","chr2:27324724","c.375G>C(E6)","p.125,T>T","rs2384571",0.57,0.7,0.77,0.64,0.66,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CGREF1",1,89,"同义",13203,"1.00=40/40",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"]
["12307A(99)v3743",53,53,1,{"$nulls":3},"A有","12307A","CHCHD2","chr7:56169419","m.662C>T(E4)","非编码区","rs8406",0.86,0.92,0.93,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CHCHD2",1,87,"非编码区",14200,"1.00=72/72",null,51142,"7p11.2","NM_016139.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10104",55,21,0.38,{"$nulls":3},"A有","12307A","CHGB","chr20:5903894","c.1104A>G(E4)","p.368,E>E","rs236153",0.52,0.55,0.57,0.53,0.52,0.56,"杂合","无关","有rs号，MAF>=5%","18180394;20007371",{"$nulls":3},5,null,7,0,"CHGB",1,120,"同义",13203,"0.39=34/87",null,1114,"20pter-p12","NM_001819.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2869",21,21,1,{"$nulls":3},"A有","12307A","CHMP1A","chr16:89712374","c.671A>C(E6)","p.224,L>R","rs117555004",0.11,0.5,0.51,0.5,0.49,0.51,"纯合","无关","有rs号，MAF>=5%",null,"桥脑小脑发育不全8型","AR",614961,5,1,3,1,"CHMP1A",0.99,47,"错义",12210,"1.00=37/37",null,5119,"16q24.3","NM_001083314.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30952",19,7,0.37,{"$nulls":3},"A有","12307A","CHRD","chr3:184103903","c.1888A>C(E15)","p.630,M>L","rs16858780",0.29,0.37,0.36,0.37,0.3,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CHRD",0.93,22,"错义",12220,"0.40=10/25",null,8646,"3q27","NM_003741.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12923",23,10,0.43,{"$nulls":3},"A有","12307A","CHRNB4","chr15:78917399","c.594A>G(E5)","p.198,A>A","rs1948",0.69,0.53,0.51,0.54,null,0.53,"杂合","无关","有rs号，MAF>=5%","17373692;18163978;18165968;18571741;18957677;19029397;19492010;22241830;22945651;23872218;24186853;25036316",{"$nulls":3},5,null,1,0,"CHRNB4",1,88,"同义",13203,"0.42=11/26",null,1143,"15q24","NM_001256567.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11721",71,70,0.99,{"$nulls":3},"A有","12307A","CIB4","chr2:26804247","c.542T>C(E7)","p.181,H>R","rs935172",0.59,0.71,0.75,0.66,0.64,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CIB4",1,100,"错义",12220,"0.99=147/149",null,130106,"2p23.3","NM_001029881.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14416",99,99,1,{"$nulls":3},"A有","12307A","CKAP2","chr13:53035925","c.967A>G(E4)","p.323,I>V","rs7335867",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CKAP2",1,290,"错义",12220,"1.00=164/164",null,26586,"13q14","NM_001098525.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28007",29,29,1,{"$nulls":3},"A有","12307A","CLCN6","chr1:11884555","c.527A>G(E7)","p.176,E>G","rs198400",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CLCN6",0.97,130,"错义",12230,"1.00=47/47",null,1185,"1p36","NM_001256959.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1758",51,28,0.55,{"$nulls":3},"A有","12307A","CLCNKB","chr1:16380252","c.1741C>T(E16)","p.581,L>L","rs2275167",0.61,0.81,0.8,0.82,0.7,0.79,"杂合","无关","有rs号，MAF>=5%",null,"巴特综合征 III型(经典型)","AR",607364,5,3,14,2,"CLCNKB",1,71,"同义",13203,"0.54=49/90",null,1188,"1p36","NM_000085.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29977",73,40,0.55,{"$nulls":3},"A有","12307A","CLEC3A","chr16:78064733","c.433C>A(E2)","p.145,Q>K","rs2072663",0.13,0.27,0.22,0.32,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",19844255,{"$nulls":3},5,null,2,0,"CLEC3A",0.94,200,"错义",12220,"0.54=65/120",null,10143,"16q23","NM_001244755.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2",57,21,0.37,{"$nulls":3},"A有","12307A","CLMP","chr11:122955402","c.206C>T(E3)","p.69,R>H","rs2276348",0.048,0.19,0.2,0.18,0.14,0.17,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"先天性短肠综合征 ",null,615237,3,2,3,1,"CLMP",1,140,"错义",12120,"0.35=29/82",null,79827,"11q24.1","NM_024769.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20154",95,34,0.36,{"$nulls":3},"A有","12307A","CLRN1","chr3:150690439","c.57T>A(E1)","p.19,A>A","rs3796242",0.13,0.23,0.25,0.21,0.22,0.25,"杂合","无关","有rs号，MAF>=5%","12080385;12145752;15521980","尤塞氏综合症IIIA型","AR",276902,5,3,4,2,"CLRN1",0.96,170,"同义",13203,"0.37=60/164",null,7401,"3q25","NM_001195794.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9192",66,35,0.53,{"$nulls":3},"A有","12307A","CMYA5","chr5:79032666","c.8078C>T(E2)","p.2693,T>I","rs28362541",0.18,0.35,0.29,0.42,0.41,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,30,0,"CMYA5",0.99,140,"错义",12220,"0.60=64/107",null,202333,"5q14.1","NM_153610.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4834",163,78,0.48,{"$nulls":3},"A有","12307A","CNGA1","chr4:47942791","c.653C>T(E10)","p.218,R>Q",{"$nulls":6},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49型-AR",null,613756,2,2,2,1,"CNGA1",0.91,180,"错义",12410,"0.45=125/275",null,1259,"4p12","NM_000087.3","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12307A(99)v6161",55,26,0.47,{"$nulls":3},"A有","12307A","CNR2","chr1:24201919","c.189T>C(E2)","p.63,Q>Q","rs2502992",0.65,0.49,0.47,0.5,0.51,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"CNR2",1,63,"同义",13203,"0.45=44/98",null,1269,"1p36.11","NM_001841.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31735",37,37,1,{"$nulls":3},"A有","12307A","CNST","chr1:246755124","c.260T>C(E2)","p.87,L>S","rs6702823",0.88,0.92,0.93,0.9,0.89,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CNST",1,150,"错义",12220,"1.00=58/58",null,163882,"1q44","NM_001139459.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7175",32,14,0.44,{"$nulls":3},"A有","12307A","COBL","chr7:51096036","c.2757G>C(E10)","p.919,H>Q","rs2240089",0.2,0.32,0.34,0.3,0.23,0.29,"杂合","无关","有rs号，MAF>=5%",16175505,{"$nulls":3},5,null,7,0,"COBL",0.99,100,"错义",12220,"0.47=25/53",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"]
["12307A(99)v7173",12,12,1,{"$nulls":3},"A有","12307A","COBL","chr7:51287470","c.213A>G(E2)","p.71,S>S","rs801142",0.76,0.77,0.77,0.78,0.78,0.84,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"COBL",0.99,100,"同义",13203,"1.00=21/21",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"]
["12307A(99)v10237",26,17,0.65,{"$nulls":3},"A有","12307A","COL11A2","chr6:33138929","c.3007G>A(E42)","p.1003,P>S","rs141164483",2E-3,0.0072,0.014,0,1.9E-3,0.012,"杂合","可能相关","蛋白结构预测结果为有害",null,"耳脊椎骨骺发育不良","AR",215150,2,3,3,6,"COL11A2",0.6,28,"错义",12110,"0.67=22/33",null,1302,"6p21.3","NM_080679.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25282",224,100,0.45,{"$nulls":3},"A有","12307A","COL19A1","chr6:70778378","IVS15+10G>C","非编码区","rs2224513",0.53,0.24,0.25,0.23,0.25,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"COL19A1",1,310,"非编码区",16203,"0.42=176/417",null,1310,"6q12-q13","NM_001858.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v310",28,28,1,{"$nulls":3},"A有","12307A","COL1A1","chr17:48268223","c.2298A>G(E33)","p.766,T>T","rs2734272",1,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"成骨不全3型","AD",259420,5,1,3,8,"COL1A1",1,55,"同义",13203,"1.00=48/48",null,1277,"17q21.33","NM_000088.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19786",171,94,0.55,{"$nulls":3},"A有","12307A","COL1A2","chr7:94043239","c.1645C>G(E28)","p.549,P>A","rs42524",0.82,0.93,0.92,0.93,0.84,0.92,"杂合","无关","有rs号，MAF>=5%","16361613;18996919;19035720;19426706;19559927;20140262;21602843;23036172;23800505","成骨不全4型","AD",166220,5,1,3,6,"COL1A2",1,230,"错义",12220,"0.53=169/319",null,1278,"7q22.1","NM_000089.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14448",23,23,1,{"$nulls":3},"A有","12307A","COL2A1","chr12:48376291","c.2295G>A(E34)","p.765,G>G","rs2276454",0.43,0.57,0.57,0.57,0.52,0.6,"纯合","无关","有rs号，MAF>=5%","17697348;18523590;19430638","stickler综合征I型","AD",108300,5,1,3,14,"COL2A1",0.98,81,"同义",13203,"1.00=39/39",null,1280,"12q13.11","NM_001844.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26858",62,27,0.44,{"$nulls":3},"A有","12307A","COL4A1","chr13:110813709","c.4470G>A(E49)","p.1490,A>A","rs1133219",0.31,0.21,0.21,0.21,0.18,0.24,"杂合","无关","有rs号，MAF>=5%",null,"家族性脑穿通1型","AD",175780,5,1,8,4,"COL4A1",0.98,180,"同义",13203,"0.49=48/98",null,1282,"13q34","NM_001845.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26862",58,58,1,{"$nulls":3},"A有","12307A","COL4A1","chr13:110827580","c.3183C>T(E37)","p.1061,G>G","rs874204",0.32,0.27,0.3,0.23,0.27,0.29,"纯合","无关","有rs号，MAF>=5%",null,"脑出血、中风（易感）",null,614519,5,1,8,4,"COL4A1",0.98,180,"同义",13203,"1.00=100/100",null,1282,"13q34","NM_001845.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20799",161,161,1,{"$nulls":3},"A有","12307A","COL4A3","chr2:228113175","c.485A>G(E9)","p.162,E>G","rs6436669",0.8,0.92,0.94,0.91,0.82,0.91,"纯合","无关","有rs号，MAF>=5%",20029656,"良性家族性血尿","AD",141200,5,1,5,3,"COL4A3",0.98,230,"错义",12220,"1.00=321/321",null,1285,"2q36-q37","NM_000091.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10145",91,43,0.47,{"$nulls":3},"A有","12307A","COL5A3","chr19:10078589","c.4395T>C(E61)","p.1465,K>K","rs3815748",0.24,0.31,0.39,0.23,0.32,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"COL5A3",0.97,92,"同义",13203,"0.52=87/168",null,50509,"19p13.2","NM_015719.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23330",62,62,1,{"$nulls":3},"A有","12307A","COL6A3","chr2:238243292","c.9206G>A(E41)","p.3069,T>I","rs1131296",0.35,0.48,0.47,0.49,0.43,0.49,"纯合","无关","有rs号，MAF>=5%",null,"Ullrich型先天性肌营养不良","AD,AR",254090,5,1,8,2,"COL6A3",1,120,"错义",12220,"1.00=99/99",null,1293,"2q37","NM_004369.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16687",6,5,0.83,{"$nulls":3},"A有","12307A","COL7A1","chr3:48625266","c.2817T>C(E21)","p.939,P>P","rs1264194",0.68,0.37,0.32,0.42,0.36,0.38,"杂合","无关","有rs号，MAF>=5%",null,"痒疹样大疱性表皮松解症","AD,AR",604129,5,1,1,7,"COL7A1",0.99,57,"同义",13203,"0.80=8/10",null,1294,"3p21.1","NM_000094.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13475",312,139,0.45,{"$nulls":3},"A有","12307A","COQ3","chr6:99825348","c.400T>C(E4)","p.134,K>E","rs11548336",0.32,0.46,0.52,0.4,0.43,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"COQ3",1,300,"错义",12220,"0.45=253/559",null,51805,"6q16.2","NM_017421.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15106",54,53,0.98,{"$nulls":3},"A有","12307A","CORO7","chr16:4445327","c.524C>T(E7)","p.175,R>Q","rs3747579",0.51,0.81,0.78,0.85,0.75,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CORO7",1,31,"错义",12210,"0.98=89/91",null,79585,"16p13.3","NM_001201472.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24784",20,9,0.45,{"$nulls":3},"A有","12307A","CPAMD8","chr19:17003789","m.5961T>G(E42)","非编码区","rs773901",0.56,0.32,0.3,0.33,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"CPAMD8",0.94,63,"非编码区",14200,"0.46=11/24",null,27151,"19p13.11","NM_015692.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30485",116,60,0.52,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"CPNE3",1,320,"非编码区",14200,"0.53=90/170",null,8895,"8q21.3","NM_003909.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4141",91,42,0.46,{"$nulls":3},"A有","12307A","CPSF4L","chr17:71244630","m.605C>T(E6)","非编码区","rs8915",0.7,0.79,0.77,0.82,0.77,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CPSF4L",1,130,"非编码区",14200,"0.52=91/176",null,642843,"17q25.1","NM_001129885.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21910",29,29,1,{"$nulls":3},"A有","12307A","CPT2","chr1:53676448","c.1102G>A(E4)","p.368,V>I","rs1799821",0.41,0.71,0.72,0.71,0.72,0.73,"纯合","无关","有rs号，MAF>=5%","15986317;22809552;15489334;1528846;9600456;9758712;14605500;15811315;18306170;21697855","肉碱棕榈酰转移酶II缺乏症（幼儿型）","AR",600649,5,1,1,4,"CPT2",0.92,120,"错义",12220,"0.97=38/39",null,1376,"1p32","NM_000098.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28827",3,3,1,{"$nulls":3},"A有","12307A","CRB2","chr9:126125318","c.269C>A(E2)","p.90,T>N","rs2808415",1,1,1,1,0.81,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CRB2",0.73,11,"错义",12220,"1.00=3/3",null,286204,"9q33.3","NM_173689.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7555",57,28,0.49,{"$nulls":3},"A有","12307A","CRIP3","chr6:43273604","c.563A>G(E8)","p.188,I>T","rs2242416",0.42,0.66,0.64,0.67,0.72,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CRIP3",1,48,"错义",12220,"0.49=49/101",null,401262,"6p21.1","NM_206922.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28612",277,277,1,{"$nulls":3},"A有","12307A","CRY1","chr12:107395106","c.636A>G(E5)","p.212,G>G","rs8192440",0.79,0.98,0.97,0.98,0.98,0.97,"纯合","无关","有rs号，MAF>=5%","21781277;25020710",{"$nulls":3},5,null,1,0,"CRY1",1,280,"同义",13203,"1.00=602/605",null,1407,"12q23-q24.1","NM_004075.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5520",132,66,0.5,{"$nulls":3},"A有","12307A","CSE1L","chr20:47712930","c.2703G>T(E24)","p.901,Q>H","rs35367415",0.024,0.053,0.067,0.039,0.045,0.036,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"CSE1L",1,280,"错义",12120,"0.47=110/233",null,1434,"20q13","NM_001256135.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4259",75,74,0.99,{"$nulls":3},"A有","12307A","CSN3","chr4:71115060","c.433G>A(E4)","p.145,A>T","rs3775739",0.15,0.25,0.28,0.22,0.19,0.26,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CSN3",1,240,"错义",12220,"0.99=110/111",null,1448,"4q21.1","NM_005212.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5886",83,38,0.46,{"$nulls":3},"A有","12307A","CSRNP3","chr2:166535918","c.1413C>T(E7)","p.471,T>T","rs777346",0.37,0.4,0.47,0.32,0.35,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CSRNP3",1,120,"同义",13203,"0.42=66/158",null,80034,"2q24.3","NM_001172173.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21207",97,44,0.45,{"$nulls":3},"A有","12307A","CST9L","chr20:23546639","c.326T>G(E2)","p.109,H>P","rs2295564",0.38,0.53,0.55,0.5,0.53,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CST9L",1,140,"错义",12220,"0.43=81/187",null,128821,"20p11.21","NM_080610.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26253",60,25,0.42,{"$nulls":3},"A有","12307A","CTLA4","chr2:204732714","c.49A>G(E1)","p.17,T>A","rs231775",0.43,0.67,0.66,0.69,0.67,0.67,"杂合","无关","有rs号，MAF>=5%","15452244;15726497;16380915;16449530;16872485;17327408;17683561;17825114;18059468;18076363;18200060;18456185;18528295;18556337;18576317;18633131;18687755;18773895;18776148;18778710;18805939;19014504;19066394;19131662;19141582;19147066;19173720;19175525;19180256;19188433;19263529;19300490;19330901;19379518;19386687;19438904;19490216;19559392;19609446;19622768;19672595;19740340;19778566;19780033;19956097;19956109;20352109;20444755;20537165;20538028;20557968;20565774;20610662;20732370;20940051;21040781;21085187;21453059;21513760;21669243;21952918;22076708;22288822;22328738;22376040;22414241;22418270;22718509;22905924;23010350;23133602;23261825;23432218;23480667;23567921;23703660;23830732;23911738;23944755;24269013;24270470;24298899;24758310;25003519;25005490;25061884","易感型乳糜泻3",null,609755,5,2,1,5,"CTLA4",1,200,"错义",12220,"0.39=43/109",null,1493,"2q33","NM_001037631.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9179",20,20,1,{"$nulls":3},"A有","12307A","CTSB","chr8:11702542","m.1274T>C(E10)","非编码区","rs8898",0.41,0.52,0.53,0.5,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CTSB",1,95,"非编码区",14200,"0.96=23/24",null,1508,"8p22","NM_001908.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9735",18,18,1,{"$nulls":3},"A有","12307A","CTU2","chr16:88781040","c.1247A>G(E12)","p.416,Q>R","rs8059048",0.32,0.7,0.71,0.69,0.64,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CTU2",0.95,34,"错义",12220,"1.00=30/30",null,348180,"16q24.3","NM_001012759.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2691",209,209,1,{"$nulls":3},"A有","12307A","CWC22","chr2:180835589","IVS9-6A>G","剪切位点","rs4894140",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CWC22",1,300,"剪切位点",16202,"0.99=364/366",null,57703,"2q31.3","NM_020943.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31548",34,34,1,{"$nulls":3},"A有","12307A","CXCL16","chr17:4638563","c.599G>A(E4)","p.200,A>V","rs2277680",0.46,0.6,0.62,0.57,0.6,0.58,"纯合","无关","有rs号，MAF>=5%","17848170;19954776",{"$nulls":3},5,null,6,0,"CXCL16",1,86,"错义",12220,"0.98=61/62",null,58191,"17p13","NM_001100812.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13339",101,99,0.98,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,2,0,"CXorf40A",0.98,250,"同义",13303,"0.99=154/156",null,91966,"Xq28","NM_001171907.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12527",23,6,0.26,{"$nulls":3},"A有","12307A","CYFIP1","chr15:22955308-22955308","UTR:缺失C","非编码区","rs3217548",0.53,0.5,0.54,0.46,0.044,0.48,"杂合","无关","不在基因上的突变",{"$nulls":4},5,null,5,0,"CYFIP1",1,120,"非编码区",2600,"0.24=6/25",null,23191,"15q11","NM_001033028.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20490",36,13,0.36,{"$nulls":3},"A有","12307A","CYP21A2","chr6:32006387","c.188A>T(E1)","p.63,H>L",{"$nulls":5},0.11,0.32,"杂合","可能相关","蛋白结构预测结果为有害",null,"21-羟化酶缺陷导致的先天性肾上腺皮质增生症","AR",201910,2,3,4,1,"CYP21A2",1,73,"错义",12410,"0.33=18/54",null,1589,"6p21.3","NM_000500.7","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25289",140,59,0.42,{"$nulls":3},"A有","12307A","CYP2A7","chr19:41383153","c.1103A>G(E7)","p.368,M>T","rs2261144",0.31,0.27,0.31,0.23,0.3,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"CYP2A7",1,170,"错义",12210,"0.43=111/259",null,1549,"19q13.2","NM_000764.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31770",5,2,0.4,{"$nulls":3},"A有","12307A","CYP2R1","chr11:14913575","c.177G>A(E1)","p.59,S>S","rs12794714",0.35,0.35,0.35,0.35,0.33,0.37,"杂合","无关","有rs号，MAF>=5%","17607662;22559001;22583563;22690899;22801813;23456391;23505139;24562971;25003556;25085266","维生素D依赖性佝偻病1B型/假性维生素D缺乏性佝偻病1B型（25-羟化酶缺乏导致）","AR",600081,5,3,1,1,"CYP2R1",1,180,"同义",13203,"0.40=2/5",null,120227,"11p15.2","NM_024514.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20957",146,66,0.45,{"$nulls":3},"A有","12307A","CYP4V2","chr4:187122319","c.810T>G(E7)","p.270,A>A","rs3736455",0.58,0.36,0.35,0.37,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",null,"Bietti结晶样视网膜营养不良","AR",210370,5,3,4,1,"CYP4V2",0.86,250,"同义",13203,"0.43=95/223",null,285440,"4q35.2","NM_207352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23756",98,55,0.56,{"$nulls":3},"A有","12307A","DAAM1","chr14:59797235","c.1389A>G(E13)","p.463,Q>Q","rs941884",0.66,0.83,0.81,0.84,0.75,0.81,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DAAM1",1,260,"同义",13203,"0.52=87/168",null,23002,"14q23.1","NM_001270520.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7263",216,216,1,{"$nulls":3},"A有","12307A","DAOA","chr13:106119446","c.89G>A(E2)","p.30,R>K","rs2391191",0.36,0.66,0.68,0.63,0.58,0.62,"纯合","无关","有rs号，MAF>=5%","12647258;15194506;16402132;16842973;17179078;17179866;18023149;18165970;18466879;18541412;19089835;19237267;19482054;19586533;19911060;20230869;20471098;20667145;21443574;21508934;22851402;23335491","精神分裂症","AD",181500,5,1,1,1,"DAOA",1,240,"错义",12220,"1.00=409/409",null,267012,"13q33.2|13q34","NM_172370.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1363",62,62,1,{"$nulls":3},"A有","12307A","DCAF11","chr14:24587639","c.620G>A(E7)","p.207,R>H","rs3825584",0.4,0.41,0.39,0.43,0.41,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DCAF11",1,120,"错义",12220,"1.00=114/114",null,80344,"14q11.2","NM_001163484.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3388",7,2,0.29,{"$nulls":3},"A有","12307A","DCHS1","chr11:6648424","c.5846G>A(E14)","p.1949,T>M","rs4758443",0.3,0.43,0.42,0.44,0.33,0.45,"杂合","无关","有rs号，MAF>=5%",null,"Van Maldergem综合征1型","AR",601390,5,3,6,1,"DCHS1",0.94,39,"错义",12220,"0.25=2/8",null,8642,"11p15.4","NM_003737.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13254",34,15,0.44,{"$nulls":3},"A有","12307A","DCST2","chr1:155006091","c.87A>G(E1)","p.29,G>G","rs10908453",0.6,0.9,0.89,0.91,0.87,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DCST2",1,56,"同义",13203,"0.39=22/57",null,127579,"1q22","NM_144622.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7504",4,3,0.75,{"$nulls":3},"A有","12307A","DCTD","chr4:183812301","m.985T>C(E6)","非编码区","rs3088349",0.37,0.24,0.19,0.28,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DCTD",0.95,210,"非编码区",14200,"0.88=7/8",null,1635,"4q35.1","NM_001012732.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8165",98,24,0.24,{"$nulls":3},"A有","12307A","DDX11","chr12:31242861","c.922A>C(E9)","p.308,R>R","rs200751040",0.0058,0.012,0.0048,0.019,0.12,0.029,"杂合","未知","预测范围之外的同义突变",null,"华沙染色体断裂综合征","AR",613398,4,3,8,1,"DDX11",1,180,"同义",13103,"0.26=46/180",null,1663,"12p11","NM_001257144.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11118",152,152,1,{"$nulls":3},"A有","12307A","DDX59","chr1:200618238","c.1431T>C(E6)","p.477,S>S","rs6665604",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"口面指综合征5型","AR",174300,5,1,1,1,"DDX59",1,230,"同义",13203,"1.00=257/257",null,83479,"1q32.1","NM_001031725.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7163",59,21,0.36,{"$nulls":3},"A有","12307A","DDX60L","chr4:169312801","IVS28-6A>G","剪切位点","rs6840397",0.82,0.88,0.88,0.87,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"DDX60L",1,310,"剪切位点",16202,"0.36=37/103",null,91351,"4q32.3","NM_001012967.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20714",2,2,1,{"$nulls":3},"A有","12307A","DEGS2","chr14:100625902","c.23C>T(E1)","p.8,S>N","rs7157599",0.77,0.69,0.7,0.68,0.51,0.79,"纯合","无关","有rs号，MAF>=5%",21658281,{"$nulls":3},5,null,2,0,"DEGS2",0.93,17,"错义",12220,"1.00=6/6",null,123099,"14q32.2","NM_206918.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28903",9,6,0.67,{"$nulls":3},"A有","12307A","DES","chr2:220290813","m.1600T>A(E9)","非编码区","rs577767946",0.0004,0.0024,0.0048,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"扩张性心肌病1I型",null,604765,3,2,1,4,"DES",0.87,40,"非编码区",14100,"0.58=7/12",null,1674,"2q35","NM_001927.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5565",11,11,1,{"$nulls":3},"A有","12307A","DFNB31","chr9:117166246","c.1199A>G(E10)","p.400,V>A","rs2274159",0.41,0.42,0.4,0.45,0.42,0.46,"纯合","无关","有rs号，MAF>=5%","20352026;21239504;15841483","尤塞氏综合症IID型",null,611383,5,1,7,2,"DFNB31",1,28,"错义",12220,"1.00=19/19",null,25861,"9q32","NM_001083885.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6333",117,112,0.96,{"$nulls":3},"A有","12307A","DGKI","chr7:137092748-137092750","IVS30-7至IVS30-9:缺失AGA插入GC","非编码区",{"$nulls":7},"纯合","无关","内含子突变",{"$nulls":4},5,null,5,0,"DGKI",0.97,210,"非编码区",2500,"0.96=123/128",null,9162,"7q32.3-q33","NM_004717.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29147",87,87,1,{"$nulls":3},"A有","12307A","DHTKD1","chr10:12148259","c.1911A>C(E11)","p.637,P>P","rs1701472",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",null,"恰克-马利-杜斯氏症2Q型，轴索型","AD",615025,4,1,4,2,"DHTKD1",1,180,"同义",13303,"1.00=162/162",null,55526,"10p14","NM_018706.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12500",113,50,0.44,{"$nulls":3},"A有","12307A","DICER1","chr14:95595884","c.659T>C(E5)","p.220,E>G",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"多结节性甲状腺肿1型伴或不伴有支持-间质细胞瘤","AD",138800,2,1,2,3,"DICER1",1,220,"错义",12410,"0.41=86/208",null,23405,"14q32.13","NM_001195573.1","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12307A(99)v16162",46,24,0.52,{"$nulls":3},"A有","12307A","DIP2A","chr21:47985655","c.4182C>T(E36)","p.1394,T>T","rs2248636",0.12,0.35,0.36,0.33,0.3,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DIP2A",0.98,110,"同义",13203,"0.48=38/79",null,23181,"21q22.3","NM_001146116.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13234",71,33,0.46,{"$nulls":3},"A有","12307A","DISP1","chr1:223116240","c.75G>A(E4)","p.25,P>P","rs61746477",0.12,0.15,0.2,0.1,0.15,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DISP1",1,130,"同义",13203,"0.46=59/129",null,84976,"1q41","NM_032890.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5110",34,34,1,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,2,0,"DLG4",1,68,"同义",13203,"1.00=62/62",null,1742,"17p13.1","NM_001128827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24219",5,2,0.4,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"DLX2",1,35,"非编码区",14200,"0.27=3/11",null,1746,"2q32","NM_004405.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25488",255,139,0.55,{"$nulls":3},"A有","12307A","DMGDH","chr5:78351636","c.372A>C(E3)","p.124,G>G","rs2253262",0.65,0.8,0.78,0.81,0.74,0.78,"杂合","无关","有rs号，MAF>=5%",19493349,"二甲基甘氨酸脱氢酶缺乏症(鱼腥味)","AR",605850,5,3,3,1,"DMGDH",0.96,240,"同义",13203,"0.53=265/499",null,29958,"5q14.1","NM_013391.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24770",28,27,0.96,{"$nulls":3},"A有","12307A","DNAAF1","chr16:84211483","m.2395C>T(E12)","非编码区","rs8692",0.5,0.55,0.48,0.62,0.61,0.52,"纯合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍13型","AR",613193,5,1,8,1,"DNAAF1",1,140,"非编码区",14200,"0.98=41/42",null,123872,"16q24.1","NM_178452.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v669",268,268,1,{"$nulls":3},"A有","12307A","DNAH11","chr7:21659645","c.4464T>C(E25)","p.1488,I>I","rs56029521",0.42,0.69,0.71,0.67,0.63,0.68,"纯合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍7型（伴或不伴内脏异位）","AR",611884,5,1,15,1,"DNAH11",1,240,"同义",13203,"1.00=533/534",null,8701,"7p21","NM_003777.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16355",31,31,1,{"$nulls":3},"A有","12307A","DNAH17","chr17:76423097","c.12681G>A(E78)","p.4227,Y>Y","rs2271613",0.68,0.92,0.93,0.91,0.89,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"DNAH17",1,86,"同义",13203,"1.00=56/56",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"]
["12307A(99)v31661",107,47,0.44,{"$nulls":3},"A有","12307A","DNAH5","chr5:13719089","c.12401G>A(E72)","p.4134,A>V","rs30168",0.47,0.39,0.41,0.38,0.34,0.41,"杂合","无关","有rs号，MAF>=5%",19197363,"原发性纤毛运动障碍3型（伴或不伴内脏异位）",null,608644,5,2,17,1,"DNAH5",1,240,"错义",12220,"0.46=83/180",null,1767,"5p15.2","NM_001369.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28232",209,208,1,{"$nulls":3},"A有","12307A","DNAH6","chr2:84897517","c.6372A>G(E39)","p.2124,L>L","rs1881095",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DNAH6",1,270,"同义",13203,"0.99=398/401",null,1768,"2p11.2","NM_001370.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29337",9,3,0.33,{"$nulls":3},"A有","12307A","DNAJC18","chr5:138775173","m.42T>C(E1)","非编码区","rs3923059",0.59,0.36,0.31,0.41,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DNAJC18",1,230,"非编码区",14200,"0.36=4/11",null,202052,"5q31.2","NM_152686.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v869",12,3,0.25,{"$nulls":3},"A有","12307A","DNHD1","chr11:6519642","c.197G>A(E3)","p.66,R>Q","rs11604149",0.38,0.17,0.15,0.19,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,19,0,"DNHD1",1,77,"错义",12220,"0.18=3/17",null,144132,"11p15.4","NM_144666.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30165",18,18,1,{"$nulls":3},"A有","12307A","DNMT1","chr19:10265312","c.1782T>C(E21)","p.594,T>T","rs721186",1,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",21347319,"遗传性感觉自主神经病1E型","AD",614116,5,1,3,2,"DNMT1",1,100,"同义",13203,"1.00=27/27",null,1786,"19p13.2","NM_001130823.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3505",74,74,1,{"$nulls":3},"A有","12307A","DNTT","chr10:98078127","c.222C>T(E2)","p.74,I>I","rs7081385",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DNTT",1,240,"同义",13203,"1.00=131/131",null,1791,"10q23-q24","NM_001017520.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25774",36,14,0.39,{"$nulls":3},"A有","12307A","DOCK6","chr19:11326125","c.4044C>T(E32)","p.1348,P>P","rs2304154",0.45,0.5,0.5,0.51,0.46,0.51,"杂合","无关","有rs号，MAF>=5%",null,"Adams-Oliver 综合征2型","AR",614219,5,3,7,1,"DOCK6",1,47,"同义",13203,"0.43=25/58",null,57572,"19p13.2","NM_020812.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14355",18,18,1,{"$nulls":3},"A有","12307A","DOK3","chr5:176936650","c.60T>C(E2)","p.20,L>L","rs28565502",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DOK3",0.96,20,"同义",13203,"1.00=25/25",null,79930,"5q35.3","NM_024872.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17290",23,11,0.48,{"$nulls":3},"A有","12307A","DOPEY2","chr21:37609571","c.2634T>C(E16)","p.878,R>R","rs2835322",0.44,0.44,0.45,0.42,0.41,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DOPEY2",1,140,"同义",13203,"0.46=18/39",null,9980,"21q22.2","NM_005128.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9562",204,95,0.47,{"$nulls":3},"A有","12307A","DPY19L3","chr19:32930069","c.648G>A(E7)","p.216,A>A","rs6510249",0.55,0.65,0.62,0.68,0.66,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DPY19L3",1,250,"同义",13203,"0.48=184/380",null,147991,"19q13.11","NM_001172774.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28868",24,24,1,{"$nulls":3},"A有","12307A","DRD2","chr11:113281397","m.1619C>T(E8)","非编码区","rs6276",0.47,0.44,0.41,0.48,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肌阵挛性肌张力障碍","AD",159900,5,1,2,1,"DRD2",1,80,"非编码区",14200,"0.97=32/33",null,1813,"11q23","NM_000795.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4301",18,12,0.67,{"$nulls":3},"A有","12307A","DSCAML1","chr11:117310022","c.4284A>G(E23)","p.1428,T>T","rs11216387",0.3,0.58,0.6,0.56,0.57,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"DSCAML1",0.99,49,"同义",13203,"0.59=16/27",null,57453,"11q23","NM_020693.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30718",172,172,1,{"$nulls":3},"A有","12307A","DSG3","chr18:29046606","c.1525G>A(E11)","p.509,V>M","rs16961975",0.049,0.055,0.062,0.049,0.073,0.05,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"DSG3",1,260,"错义",12110,"1.00=280/280",null,1830,"18q12.1","NM_001944.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4152",141,140,0.99,{"$nulls":3},"A有","12307A","DSP","chr6:7576527","c.2631G>A(E19)","p.877,R>R","rs1016835",0.74,0.79,0.78,0.8,0.8,0.8,"纯合","无关","有rs号，MAF>=5%",null,"纹状掌跖角化症2型",null,612908,5,1,6,6,"DSP",1,130,"剪切位点",13202,"1.00=241/242",null,1832,"6p24","NM_001008844.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22095",61,30,0.49,{"$nulls":3},"A有","12307A","DSPP","chr4:88536818","c.3004A>G(E5)","p.1002,N>D","rs62642443",0.23,0.19,0.18,0.21,0.24,0.23,"杂合","无关","有rs号，MAF>=5%",null,"牙质形成不全1型","AD",125490,5,1,16,4,"DSPP",1,160,"错义",12220,"0.51=52/101",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"]
["12307A(99)v22093",42,14,0.33,{"$nulls":3},"A有","12307A","DSPP","chr4:88537261","c.3447A>T(E5)","p.1149,E>D","rs200612038",{"$nulls":4},0.4,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"牙本质发育不全2型","AD",125420,3,1,16,4,"DSPP",1,160,"错义",12320,"0.30=22/74",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"]
["12307A(99)v14897",104,103,0.99,{"$nulls":3},"A有","12307A","DTL","chr1:212273639","c.1307C>T(E14)","p.436,A>V","rs3135474",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DTL",1,250,"错义",12220,"0.99=168/169",null,51514,"1q32","NM_016448.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15301",124,54,0.44,{"$nulls":3},"A有","12307A","DUSP15","chr20:30452782","c.162C>T(E4)","p.54,P>P","rs4911536",0.28,0.39,0.43,0.35,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DUSP15",0.78,89,"同义",13203,"0.42=91/215",null,128853,"20q11.21","NM_080611.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22863",128,68,0.53,{"$nulls":3},"A有","12307A","DYNC1I1","chr7:95668664","c.1440C>A(E14)","p.480,G>G","rs1048666",0.21,0.32,0.3,0.35,0.3,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DYNC1I1",1,240,"同义",13203,"0.52=122/233",null,1780,"7q21.3-q22.1","NM_001135556.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16962",43,25,0.58,{"$nulls":3},"A有","12307A","DYRK4","chr12:4705317","c.285C>T(E5)","p.95,V>V","rs3741925",0.24,0.32,0.32,0.33,0.29,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DYRK4",1,170,"剪切位点",13202,"0.61=46/75",null,8798,"12p13.32","NM_003845.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12744",74,37,0.5,{"$nulls":3},"A有","12307A","E2F1","chr20:32265007","c.970C>T(E6)","p.324,A>T","rs553413048",0.0002,0,0,0,0.0034,1.5E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"E2F1",0.8,44,"错义",12120,"0.51=70/138",null,1869,"20q11.2","NM_005225.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9578",2,2,1,{"$nulls":3},"A有","12307A","EDA2R","chrX:65817522","m.1426A>G(E7)","非编码区","rs12855916",null,1,0.99,1,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"EDA2R",0.94,98,"非编码区",14300,"1.00=3/3",null,60401,"Xq12","NM_001199687.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3793",108,108,1,{"$nulls":3},"A有","12307A","EEA1","chr12:93202801","c.2331C>T(E18)","p.777,E>E","rs7970286",0.47,0.88,0.85,0.91,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EEA1",1,250,"同义",13203,"1.00=191/191",null,8411,"12q22","NM_003566.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10037",20,13,0.65,{"$nulls":3},"A有","12307A","EEF1A2","chr20:62126299","c.480C>T(E4)","p.160,P>P","rs2274860",0.14,0.43,0.43,0.43,0.38,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EEF1A2",1,32,"同义",13203,"0.57=23/40",null,1917,"20q13.3","NM_001958.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29612",8,7,0.88,{"$nulls":3},"A有","12307A","EFHC2","chrX:44202890-44202891","m.34(E1)至m.33(E1):插入C","非编码区","rs5902346",null,1,1,1,0.066,1,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"EFHC2",1,310,"非编码区",2430,"0.89=8/9",null,80258,"Xp11.3","NM_025184.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2368",90,90,1,{"$nulls":3},"A有","12307A","EGFR","chr7:55266417","c.2709T>C(E23)","p.903,T>T","rs1140475",0.92,0.93,0.91,0.95,0.91,0.93,"纯合","无关","有rs号，MAF>=5%","17956637;19372140","肺癌","AR",211980,5,1,5,2,"EGFR",0.98,150,"同义",13203,"1.00=168/168",null,1956,"7p12","NM_005228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21141",31,29,0.94,{"$nulls":3},"A有","12307A","EGR2","chr10:64573771","c.627C>T(E2)","p.209,P>P","rs224083",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症4E型/先天性髓鞘发育不良性神经病","AD,AR",605253,5,1,1,3,"EGR2",1,43,"同义",13203,"0.96=51/53",null,1959,"10q21.1","NM_000399.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26822",59,59,1,{"$nulls":3},"A有","12307A","EIF2C2","chr8:141568622","c.840G>A(E7)","p.280,R>R","rs2292778",0.66,0.65,0.61,0.69,0.63,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"EIF2C2",0.99,77,"同义",13203,"1.00=97/97",null,27161,"8q24","NM_001164623.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1453",172,70,0.41,{"$nulls":3},"A有","12307A","ELF1","chr13:41517985","c.534A>G(E5)","p.178,D>D","rs3764056",0.41,0.16,0.14,0.18,0.21,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ELF1",1,190,"同义",13203,"0.41=125/302",null,1997,"13q13","NM_001145353.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15361",134,55,0.41,{"$nulls":3},"A有","12307A","ELL2","chr5:95236459","c.892C>T(E7)","p.298,A>T","rs3815768",0.34,0.48,0.52,0.43,0.44,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ELL2",1,180,"错义",12220,"0.41=99/241",null,22936,"5q15","NM_012081.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26358",71,33,0.46,{"$nulls":3},"A有","12307A","EML6","chr2:55091029","IVS12+3C>T","剪切位点","rs2358155",0.17,0.25,0.23,0.28,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"EML6",1,180,"剪切位点",16202,"0.44=47/107",null,400954,"2p16.1","NM_001039753.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26824",103,54,0.52,{"$nulls":3},"A有","12307A","ENO1","chr1:8928125","IVS1-9G>T","剪切位点","rs2071412",0.34,0.76,0.76,0.75,0.76,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ENO1",1,130,"剪切位点",16201,"0.51=87/172",null,2023,"1p36.2","NM_001201483.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24410",2,2,1,{"$nulls":3},"A有","12307A","ENOSF1","chr18:674012","m.1700T>G(E16)","非编码区","rs8423",0.5,0.69,0.7,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ENOSF1",0.85,180,"非编码区",14200,"1.00=4/4",null,55556,"18p11.32","NM_017512.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v107",115,115,1,{"$nulls":3},"A有","12307A","EP300","chr22:41537234","IVS10+8G>T","非编码区","rs6002267",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null,"Rubinstein-Taybi综合征2型","AD",613684,5,1,2,2,"EP300",1,150,"非编码区",16203,"0.99=196/198",null,2033,"22q13.2","NM_001429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6592",166,162,0.98,{"$nulls":3},"A有","12307A","EPHA6","chr3:97367231-97367231","m.1404(E13):缺失T插入AG","非编码区","rs63703260",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"EPHA6",1,230,"非编码区",2430,"0.97=176/181",null,285220,"3q11.2","NM_173655.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14463",12,7,0.58,{"$nulls":3},"A有","12307A","EPHX1","chr1:226033030","c.1350G>C(E9)","p.450,S>S","rs4149230",0.07,0.14,0.14,0.15,0.11,0.15,"杂合","无关","有rs号，MAF>=5%",null,"子痫前期/子痫1型","AD",189800,5,1,3,2,"EPHX1",1,100,"同义",13203,"0.62=10/16",null,2052,"1q42.1","NM_000120.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15891",33,33,1,{"$nulls":3},"A有","12307A","ERAL1","chr17:27185827","c.945C>T(E7)","p.315,D>D","rs2242345",0.77,0.72,0.73,0.7,0.69,0.73,"纯合","无关","有rs号，MAF>=5%",16251468,{"$nulls":3},5,null,2,0,"ERAL1",1,130,"同义",13203,"1.00=46/46",null,26284,"17q11.2","NM_005702.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22902",116,45,0.39,{"$nulls":3},"A有","12307A","ERCC6","chr10:50681033","c.2751G>A(E15)","p.917,G>G","rs2229760",0.25,0.31,0.3,0.31,0.31,0.31,"杂合","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",133540,5,3,5,6,"ERCC6",1,180,"同义",13203,"0.40=85/214",null,2074,"10q11.23","NM_000124.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23388",102,52,0.51,{"$nulls":3},"A有","12307A","ERCC6L","chrX:71427883","c.734C>T(E2)","p.245,R>H","rs151269287",{"$nulls":5},0.00015,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ERCC6L",1,150,"错义",12320,"0.46=78/168",null,54821,"Xq13.1","NM_017669.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13508",139,69,0.5,{"$nulls":3},"A有","12307A","ERLEC1","chr2:54035447","c.891A>G(E9)","p.297,Q>Q","rs1127362",0.17,0.16,0.15,0.17,0.17,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ERLEC1",1,250,"同义",13203,"0.47=103/221",null,27248,"2p16.2","NM_001127397.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17126",10,7,0.7,{"$nulls":3},"A有","12307A","ESPNL","chr2:239038912","c.1557T>C(E9)","p.519,L>L","rs57813708",0.25,0.18,0.24,0.12,0.19,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ESPNL",0.81,8.4,"同义",13203,"0.58=11/19",null,339768,"2q37.3","NM_194312.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18965",35,16,0.46,{"$nulls":3},"A有","12307A","ESYT2","chr7:158536267","c.1828T>C(E16)","p.610,S>G","rs2305473",0.34,0.58,0.59,0.56,0.53,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ESYT2",0.82,200,"错义",12220,"0.47=26/55",null,57488,"7q36.3","NM_020728.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6900",75,75,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ETAA1",1,170,"非编码区",14200,"1.00=132/132",null,54465,"2p14","NM_019002.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18233",122,63,0.52,{"$nulls":3},"A有","12307A","EXD1","chr15:41476465","c.1209G>A(E10)","p.403,T>T","rs690733",0.52,0.29,0.29,0.29,0.33,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"EXD1",1,230,"同义",13203,"0.50=85/171",null,161829,"15q15.1","NM_152596.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27264",13,5,0.38,{"$nulls":3},"A有","12307A","EXOC7","chr17:74097948","IVS2-4C>T","剪切位点","rs201576950",0.0004,0,0,0,null,1.9E-3,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"EXOC7",1,65,"剪切位点",16102,"0.52=14/27",null,23265,"17q25.1","NM_001013839.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30836",137,135,0.99,{"$nulls":3},"A有","12307A","EYS","chr6:65149185","c.5705T>A(E27)","p.1902,N>I","rs9353806",0.29,0.49,0.46,0.51,0.48,0.46,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性25型-AR",null,602772,5,1,9,1,"EYS",1,230,"错义",12210,"0.99=231/234",null,346007,"6q12","NM_001142800.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18153",13,3,0.23,{"$nulls":3},"A有","12307A","F13A1","chr6:6145726","m.2448A>G(E15)","非编码区","rs1050782",0.52,0.4,0.38,0.42,null,null,"杂合","无关","有rs号，MAF>=5%",null,"其他易栓症易感基因","AD",188050,5,1,3,3,"F13A1",1,170,"非编码区",14200,"0.18=3/17",null,2162,"6p25.3-p24.3","NM_000129.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26048",81,81,1,{"$nulls":3},"A有","12307A","FAAH2","chrX:57515439","m.1822T>C(E11)","非编码区","rs1048358",null,0.68,0.7,0.66,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"FAAH2",1,320,"非编码区",14300,"1.00=109/109",null,158584,"Xp11.21","NM_174912.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11437",206,169,0.82,{"$nulls":3},"A有","12307A","FAM104B","chrX:55172471","m.436G>A(E3)","非编码区","rs1047059",{"$nulls":5},0.36,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"FAM104B",1,910,"非编码区",14300,"0.83=245/296",null,90736,"Xp11.21","NM_001166700.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13521",23,7,0.3,{"$nulls":3},"A有","12307A","FAM118A","chr22:45723807","c.385G>C(E5)","p.129,V>L","rs11556482",0.54,0.56,0.51,0.61,0.46,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"FAM118A",1,110,"错义",12220,"0.25=8/32",null,55007,"22q13","NM_001104595.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12735",78,46,0.59,{"$nulls":3},"A有","12307A","FAM135B","chr8:139144914","c.4143G>A(E20)","p.1381,A>A","rs2280848",0.075,0.21,0.2,0.22,0.24,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"FAM135B",1,170,"同义",13203,"0.60=81/134",null,51059,"8q24.23","NM_015912.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29594",160,72,0.45,{"$nulls":3},"A有","12307A","FAM149B1","chr10:75000698","IVS13-6T>C","剪切位点","rs11000561",0.19,0.34,0.34,0.34,0.32,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FAM149B1",1,260,"剪切位点",16202,"0.43=121/279",null,317662,"10q22.2","NM_173348.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31831",10,10,1,{"$nulls":3},"A有","12307A","FAM166A","chr9:140139757","IVS3+2G>A","剪切位点","rs9775264",1,1,1,1,null,1,"纯合","无关","突变在经典剪切位点上",{"$nulls":4},5,null,1,0,"FAM166A",0.99,48,"剪切位点",16204,"1.00=13/13",null,401565,"9q34.3","NM_001001710.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29753",55,55,1,{"$nulls":3},"A有","12307A","FAM186A","chr12:50744753","c.5862T>C(E4)","p.1954,K>K","rs10506292",0.61,0.71,0.71,0.7,0.7,0.76,"纯合","无关","有rs号，MAF>=5%",17903299,{"$nulls":3},5,null,14,0,"FAM186A",1,120,"同义",13203,"1.00=80/80",null,121006,"12q13.12","NM_001145475.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14850",3,3,1,{"$nulls":3},"A有","12307A","FAM189A1","chr15:29418573","c.1125A>G(E9)","p.375,H>H","rs2672680",0.66,0.49,0.48,0.51,0.4,0.53,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"FAM189A1",0.86,67,"同义",13203,"1.00=5/5",null,23359,"15q13.1","NM_015307.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15036",2,2,1,{"$nulls":3},"A有","12307A","FAM196A","chr10:128933992","m.4105T>C(E6)","非编码区","rs2483855",0.69,0.79,0.8,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FAM196A",1,94,"非编码区",14200,"1.00=8/8",null,642938,"10q26.2","NM_001039762.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29010",35,35,1,{"$nulls":3},"A有","12307A","FAM212B","chr1:112269872","c.612G>A(E2)","p.204,F>F","rs197434",0.86,0.84,0.86,0.82,0.81,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAM212B",1,45,"同义",13203,"1.00=43/43",null,55924,"1p13.2","NM_019099.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10072",288,120,0.42,{"$nulls":3},"A有","12307A","FAM21A","chr10:51853633","c.1136C>T(E13)","p.379,T>M","rs199520696",{"$nulls":5},0.35,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"FAM21A",1,420,"错义",12320,"0.41=194/476",null,387680,"10q11.23","NM_001005751.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20720",75,37,0.49,{"$nulls":3},"A有","12307A","FAM24B","chr10:124610027","c.5G>A(E3)","p.2,P>L","rs1891110",0.5,0.51,0.54,0.47,0.47,0.51,"杂合","无关","有rs号，MAF>=5%","16385451;16642439",{"$nulls":3},5,null,1,0,"FAM24B",1,210,"错义",12220,"0.49=65/132",null,196792,"10q26.13","NM_001204364.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25851",44,44,1,{"$nulls":3},"A有","12307A","FAM63A","chr1:150975108","c.130T>C(E3)","p.44,K>E","rs771205",0.76,0.82,0.85,0.79,0.76,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FAM63A",1,94,"错义",12220,"1.00=70/70",null,55793,"1q21.3","NM_001163258.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8809",15,9,0.6,{"$nulls":3},"A有","12307A","FAM71E2","chr19:55870289","c.1947C>T(E9)","p.649,A>A","rs12974907",0.88,0.9,0.9,0.89,0.86,0.9,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FAM71E2",0.97,24,"同义",13203,"0.56=15/27",null,284418,"19q13.42","NM_001145402.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12626",7,4,0.57,{"$nulls":3},"A有","12307A","FAM86B1","chr8:12042880","IVS6+5T>C","剪切位点","rs142379100",{"$nulls":5},0.64,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"FAM86B1",1,130,"剪切位点",16302,"0.43=6/14",null,85002,"8p23.1","NM_001083537.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31374",25,16,0.64,{"$nulls":3},"A有","12307A","FANCE","chr6:35423662","c.387A>C(E2)","p.129,P>P","rs4713867",0.78,0.7,0.64,0.77,0.64,0.68,"杂合","无关","有rs号，MAF>=5%",null,"范可尼贫血,互补E组","AR",600901,5,3,2,1,"FANCE",0.85,80,"同义",13203,"0.70=28/40",null,2178,"6p22-p21","NM_021922.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27910",8,2,0.25,{"$nulls":3},"A有","12307A","FASN","chr17:80043739","c.3741A>G(E23)","p.1247,A>A","rs2229422",0.24,0.31,0.3,0.33,0.27,0.39,"杂合","无关","有rs号，MAF>=5%",19876008,{"$nulls":3},5,null,2,0,"FASN",0.97,14,"同义",13203,"0.23=3/13",null,2194,"17q25","NM_004104.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4634",94,94,1,{"$nulls":3},"A有","12307A","FAT2","chr5:150930345","c.4384C>T(E7)","p.1462,V>M","rs2278371",0.12,0.2,0.15,0.26,0.25,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,25,0,"FAT2",1,100,"错义",12220,"1.00=160/160",null,2196,"5q33.1","NM_001447.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v146",84,50,0.6,{"$nulls":3},"A有","12307A","FAT4","chr4:126412891","c.14914C>T(E17)","p.4972,P>S","rs1014867",0.054,0.084,0.076,0.092,0.072,0.062,"杂合","无关","有rs号，MAF>=5%","23319386;25133033","Hennekam淋巴管扩张-淋巴水肿综合征2型","AR",616006,5,3,12,2,"FAT4",1,150,"错义",12220,"0.51=87/169",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"]
["12307A(99)v28769",40,40,1,{"$nulls":3},"A有","12307A","FBLN1","chr22:45923827","c.422A>G(E4)","p.141,Q>R","rs136730",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FBLN1",0.97,66,"错义",12230,"1.00=73/73",null,2192,"22q13.31","NM_001996.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29398",140,74,0.53,{"$nulls":3},"A有","12307A","FBN1","chr15:48797307","c.1875A>G(E16)","p.625,N>N","rs25458",0.3,0.34,0.33,0.36,0.36,0.35,"杂合","无关","有rs号，MAF>=5%","17024364;17999355","Geleophysic发育不良2型","AD",614185,5,1,4,7,"FBN1",1,230,"同义",13203,"0.50=120/240",null,2200,"15q21.1","NM_000138.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2806",36,36,1,{"$nulls":3},"A有","12307A","FBXL17","chr5:107197420","m.2514G>A(E9)","非编码区","rs61749621",0.18,0.19,0.18,0.19,null,0.15,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FBXL17",0.64,120,"非编码区",14200,"1.00=61/61",null,64839,"5q21.3","NM_001163315.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4084",85,40,0.47,{"$nulls":3},"A有","12307A","FBXO16","chr8:28286174","m.1062T>G(E8)","非编码区","rs1055741",0.71,0.83,0.83,0.82,null,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FBXO16",1,220,"非编码区",14200,"0.44=61/138",null,157574,"8p21.1","NM_001258211.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2788",8,8,1,{"$nulls":3},"A有","12307A","FBXO47","chr17:37093243","m.1744G>T(E11)","非编码区","rs594415",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FBXO47",1,290,"非编码区",14200,"1.00=9/9",null,494188,"17q12|17q12","NM_001008777.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20274",7,7,1,{"$nulls":3},"A有","12307A","FCGR2B","chr1:161647533","m.1190A>G(E7)","非编码区","rs844",0.7,0.76,0.77,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",null,"系统性红斑狼疮","AD",152700,5,1,1,2,"FCGR2B",1,290,"非编码区",14200,"1.00=8/8",null,2213,"1q23","NM_001002273.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12979",14,9,0.64,{"$nulls":3},"A有","12307A","FCN2","chr9:137779306","m.997T>G(E8)","非编码区","rs4521835",0.46,0.33,0.35,0.31,null,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FCN2",1,87,"非编码区",14200,"0.57=12/21",null,2220,"9q34.3","NM_004108.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20087",12,11,0.92,{"$nulls":3},"A有","12307A","FCRL6","chr1:159778983","c.552T>C(E4)","p.184,P>P","rs12083967",0.27,0.23,0.21,0.25,0.23,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FCRL6",1,88,"同义",13203,"0.94=17/18",null,343413,"1q23.2","NM_001004310.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13057",28,14,0.5,{"$nulls":3},"A有","12307A","FES","chr15:91430436","c.330T>C(E3)","p.110,A>A","rs2071383",0.94,0.9,0.9,0.9,0.88,0.92,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FES",1,36,"同义",13203,"0.44=23/52",null,2242,"15q26.1","NM_001143783.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24593",20,20,1,{"$nulls":3},"A有","12307A","FGF6","chr12:4554548","c.189G>C(E1)","p.63,A>A","rs7358740",0.9,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FGF6",1,96,"同义",13203,"1.00=28/28",null,2251,"12p13","NM_020996.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13189",141,141,1,{"$nulls":3},"A有","12307A","FGFR2","chr10:123239112","c.2107G>A(E17)","p.703,L>L","rs1047057",0.41,0.38,0.35,0.42,0.43,0.39,"纯合","无关","有rs号，MAF>=5%",null,"Antley-Bixler综合症无生殖畸形或异常类固醇生成2型","AR",207410,5,1,4,11,"FGFR2",1,180,"同义",13203,"1.00=267/267",null,2263,"10q26","NM_001144915.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13186",98,98,1,{"$nulls":3},"A有","12307A","FGFR2","chr10:123298158","c.696T>C(E6)","p.232,V>V","rs1047100",0.8,0.92,0.9,0.95,0.91,0.92,"纯合","无关","有rs号，MAF>=5%","11781872;16385451;18285324","Antley-Bixler综合症无生殖畸形或异常类固醇生成2型","AR",207410,5,1,4,11,"FGFR2",1,180,"同义",13203,"1.00=187/187",null,2263,"10q26","NM_000141.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4147",22,22,1,{"$nulls":3},"A有","12307A","FHL3","chr1:38464639","IVS2+7C>G","非编码区","rs4570384",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FHL3",1,53,"非编码区",16203,"1.00=37/37",null,2275,"1p34","NM_001243878.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3824",43,43,1,{"$nulls":3},"A有","12307A","FKBP2","chr11:64011441","c.369T>C(E6)","p.123,G>G","rs654573",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FKBP2",1,48,"剪切位点",13202,"0.97=74/76",null,2286,"11q13.1-q13.3","NM_001135208.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31037",116,116,1,{"$nulls":3},"A有","12307A","FLG","chr1:152276889","c.10473A>G(E3)","p.3491,N>N","rs3126067",0.52,0.61,0.63,0.59,0.56,0.6,"纯合","无关","有rs号，MAF>=5%",null,"特应性皮炎(湿疹)2型",null,605803,5,1,62,2,"FLG",1,210,"同义",13203,"1.00=178/178",null,2312,"1q21.3","NM_002016.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31017",195,89,0.46,{"$nulls":3},"A有","12307A","FLG","chr1:152280788","c.6574T>G(E3)","p.2192,K>Q","rs66954353",{"$nulls":4},0.4,0.42,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"特应性皮炎(湿疹)2型",null,605803,3,2,62,2,"FLG",1,210,"错义",12320,"0.50=163/328",null,2312,"1q21.3","NM_002016.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31005",125,66,0.53,{"$nulls":3},"A有","12307A","FLG","chr1:152281304","c.6058A>C(E3)","p.2020,S>A","rs7512857",{"$nulls":4},0.39,0.41,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"寻常性鱼鳞病","AD",146700,3,1,62,2,"FLG",1,210,"错义",12320,"0.53=103/194",null,2312,"1q21.3","NM_002016.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31006",87,87,1,{"$nulls":3},"A有","12307A","FLG","chr1:152283975","c.3387A>G(E3)","p.1129,S>S","rs66831674",0.46,0.61,0.63,0.59,0.56,0.6,"纯合","无关","有rs号，MAF>=5%",null,"特应性皮炎(湿疹)2型",null,605803,5,1,62,2,"FLG",1,210,"同义",13203,"0.99=144/145",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"]
["12307A(99)v31599",57,30,0.53,{"$nulls":3},"A有","12307A","FLNA","chrX:153582311","c.5658G>A(E35)","p.1886,F>F","rs182894587",null,0.0031,0,6.3E-3,0.0039,0.0042,"杂合","未知","预测范围之外的同义突变",null,"额骨干骺端发育不良","XR",305620,4,3,1,11,"FLNA",1,43,"同义",13303,"0.51=55/108",null,2316,"Xq28","NM_001110556.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29157",93,93,1,{"$nulls":3},"A有","12307A","FLNB","chr3:58112440","c.4173A>G(E24)","p.1391,A>A","rs2362903",0.83,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"骨发育不全1型",null,108720,5,1,8,5,"FLNB",1,130,"同义",13203,"1.00=161/161",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"]
["12307A(99)v15788",8,4,0.5,{"$nulls":3},"A有","12307A","FLRT1","chr11:63885287","c.1548C>T(E2)","p.516,Y>Y","rs947939",0.069,0.062,0.067,0.058,0.068,0.072,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FLRT1",1,16,"同义",13203,"0.50=5/10",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"]
["12307A(99)v15727",41,20,0.49,{"$nulls":3},"A有","12307A","FMN2","chr1:240637571","m.5511A>G(E18)","非编码区","rs882869",0.3,0.46,0.49,0.43,null,null,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传性精神发育迟滞47型","AR",616193,5,3,5,1,"FMN2",0.93,120,"非编码区",14200,"0.40=23/57",null,56776,"1q43","NM_020066.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10000",34,8,0.24,{"$nulls":3},"A有","12307A","FN3K","chr17:80706720-80706722","IVS4-11至IVS4-9:缺失TTG","非编码区","rs72318398",0.18,0.07,0.067,0.073,0.0082,0.081,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"FN3K",0.85,87,"非编码区",2500,"0.26=9/35",null,64122,"17q25.3","NM_022158.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8659",209,209,1,{"$nulls":3},"A有","12307A","FNDC8","chr17:33448818","c.106T>C(E1)","p.36,S>P","rs1871892",0.84,0.92,0.9,0.94,0.88,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FNDC8",1,140,"错义",12220,"1.00=380/380",null,54752,"17q12","NM_017559.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27177",38,18,0.47,{"$nulls":3},"A有","12307A","FOXD4L5","chr9:70177655","c.329G>C(E1)","p.110,P>R","rs201783089",{"$nulls":4},0.47,0.52,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"FOXD4L5",0.9,29,"错义",12310,"0.49=26/53",null,653427,"9q21.11","NM_001126334.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1927",67,27,0.4,{"$nulls":3},"A有","12307A","FPR1","chr19:52249672","c.576A>C(E3)","p.192,N>K","rs1042229",0.37,0.26,0.26,0.26,0.29,0.29,"杂合","无关","有rs号，MAF>=5%","21216225;23373827",{"$nulls":3},5,null,4,0,"FPR1",1,110,"错义",12220,"0.38=43/114",null,2357,"19q13.4","NM_001193306.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15399",104,51,0.49,{"$nulls":3},"A有","12307A","FREM1","chr9:14747412","c.1467A>G(E10)","p.489,V>V","rs4741426",0.14,0.17,0.16,0.17,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",null,"Manitoba Oculotrichoanal综合征","AR",248450,5,3,10,3,"FREM1",1,200,"同义",13203,"0.49=83/169",null,158326,"9p22.3","NM_001177704.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15404",7,6,0.86,{"$nulls":3},"A有","12307A","FREM1","chr9:14869110","m.682C>G(E3)","非编码区","rs12238629",0.23,0.55,0.54,0.56,0.54,null,"杂合","无关","有rs号，MAF>=5%",null,"鼻裂或合并肛肠肾脏畸形",null,608980,5,2,10,3,"FREM1",1,200,"非编码区",14200,"0.89=8/9",null,158326,"9p22.3","NM_144966.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22332",5,3,0.6,{"$nulls":3},"A有","12307A","FRMD1","chr6:168479562","c.213C>T(E1)","p.71,G>G","rs80239946",0.035,0.043,0.043,0.044,0.036,0.044,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,8,0,"FRMD1",0.88,24,"剪切位点",13101,"0.50=3/6",null,79981,"6q27","NM_024919.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22303",5,5,1,{"$nulls":3},"A有","12307A","FRMD8","chr11:65161129","c.339C>T(E4)","p.113,D>D","rs2073800",0.29,0.28,0.27,0.3,0.24,0.28,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FRMD8",1,13,"同义",13203,"1.00=7/7",null,83786,"11q13","NM_031904.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25268",89,40,0.45,{"$nulls":3},"A有","12307A","FSHR","chr2:49191041","c.919C>T(E10)","p.307,A>T","rs6165",0.49,0.67,0.67,0.67,0.64,0.66,"杂合","无关","有rs号，MAF>=5%","18603647;19147210;19387820;19403562;20399696;22414334;23413141;24288354","卵巢发育不全1型","AR",233300,5,3,3,3,"FSHR",1,180,"错义",12220,"0.44=61/140",null,2492,"2p21-p16","NM_000145.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21581",2,2,1,{"$nulls":3},"A有","12307A","FTSJ3","chr17:61904724","m.308T>C(E1)","非编码区","rs2665834",0.73,0.59,0.58,0.6,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"FTSJ3",1,130,"非编码区",14200,"1.00=3/3",null,117246,"17q23.3","NM_017647.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22530",47,46,0.98,{"$nulls":3},"A有","12307A","FUT9","chr6:96651740","c.709A>G(E3)","p.237,T>A","rs3811069",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FUT9",1,170,"错义",12220,"0.98=62/63",null,10690,"6q16","NM_006581.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21613",3,3,1,{"$nulls":3},"A有","12307A","G0S2","chr1:209849002","m.230T>C(E2)","非编码区","rs3817870",0.61,0.56,0.56,0.55,null,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"G0S2",1,3.1,"非编码区",14200,"1.00=6/6",null,50486,"1q32.2","NM_015714.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19316",14,7,0.5,{"$nulls":3},"A有","12307A","GABRA5","chr15:27188353","IVS9-9C>A","剪切位点","rs140684",0.65,0.55,0.52,0.59,null,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GABRA5",1,160,"剪切位点",16201,"0.48=11/23",null,2558,"15q12","NM_000810.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16299",44,44,1,{"$nulls":3},"A有","12307A","GAGE1","chrX:49370787","m.646A>T(E5)","非编码区","rs5906844",null,0.37,0.37,0.36,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"GAGE1",1,980,"非编码区",14300,"1.00=49/49",null,2543,"Xp11.23","NM_001040663.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2369",6,2,0.33,{"$nulls":3},"A有","12307A","GALNT6","chr12:51773557","c.9G>A(E3)","p.3,L>L","rs2278216",0.1,0.19,0.21,0.17,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GALNT6",1,86,"同义",13203,"0.31=4/13",null,11226,"12q13","NM_007210.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19114",93,48,0.52,{"$nulls":3},"A有","12307A","GALT","chr9:34647819","IVS4-10C>T","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",null,"半乳糖血症classic 型","AR",230400,4,3,1,1,"GALT",1,100,"剪切位点",16402,"0.53=81/154",null,2592,"9p13","NM_000155.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19298",5,5,1,{"$nulls":3},"A有","12307A","GATA2","chr3:128205860","c.15G>C(E3)","p.5,P>P","rs1573858",0.71,0.69,0.7,0.69,0.62,0.72,"纯合","无关","有rs号，MAF>=5%",null,"免疫缺陷21型/单核树突细胞,B淋巴细胞和自然杀伤淋巴细胞缺陷症","AD",614172,5,1,2,4,"GATA2",1,21,"同义",13203,"1.00=6/6",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"]
["12307A(99)v394",118,118,1,{"$nulls":3},"A有","12307A","GBP7","chr1:89637578","c.41G>A(E2)","p.14,T>I","rs676913",0.71,0.78,0.79,0.78,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GBP7",1,240,"错义",12220,"1.00=200/201",null,388646,"1p22.2","NM_207398.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28923",14,14,1,{"$nulls":3},"A有","12307A","GDAP1","chr8:75262798","c.102G>C(E1)","p.34,S>S","rs7828201",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2K型，轴索型","AD,AR",607831,5,1,2,4,"GDAP1",1,230,"同义",13203,"1.00=26/26",null,54332,"8q21.11","NM_018972.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6259",110,61,0.55,{"$nulls":3},"A有","12307A","GDAP2","chr1:118441771","c.704G>A(E7)","p.235,P>L","rs77073478",2E-3,0.012,0.0095,0.015,0.011,0.0074,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"GDAP2",1,280,"错义",12120,"0.57=113/199",null,54834,"1p12","NM_001135589.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19804",122,122,1,{"$nulls":3},"A有","12307A","GEMIN5","chr5:154306972","c.1050T>C(E7)","p.350,L>L","rs2258437",0.82,0.9,0.9,0.9,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GEMIN5",1,210,"同义",13203,"1.00=218/218",null,25929,"5q33.2","NM_001252156.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10136",71,22,0.31,{"$nulls":3},"A有","12307A","GGT1","chr22:25024076","c.1365G>A(E14)","p.455,P>P","rs369713123",0.0004,0.0048,0.0095,0,0.43,7.6E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"GGT1",1,60,"同义",13103,"0.31=31/99",null,2678,"22q11.23","NM_001032364.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8426",136,136,1,{"$nulls":3},"A有","12307A","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",0.99,190,"同义",13203,"1.00=216/216",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"]
["12307A(99)v27521",19,19,1,{"$nulls":3},"A有","12307A","GJA5","chr1:147230217","m.1292T>C(E2)","非编码区","rs1692141",0.88,0.93,0.93,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",null,"心房停顿1型","AD",108770,5,1,1,2,"GJA5",1,87,"非编码区",14200,"1.00=26/26",null,2702,"1q21.1","NM_005266.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21167",125,62,0.5,{"$nulls":3},"A有","12307A","GLB1L2","chr11:134226291","IVS6+4A>G","剪切位点","rs3802929",0.12,0.32,0.35,0.29,0.3,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GLB1L2",1,150,"剪切位点",16202,"0.49=108/222",null,89944,"11q25","NM_138342.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25075",17,9,0.53,{"$nulls":3},"A有","12307A","GLDN","chr15:51689772","c.794G>A(E6)","p.265,S>N","rs17648128",0.3,0.51,0.51,0.51,0.42,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GLDN",0.89,120,"错义",12220,"0.56=15/27",null,342035,"15q21.2","NM_181789.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20894",52,19,0.37,{"$nulls":3},"A有","12307A","GLP1R","chr6:39048491","c.1200A>C(E12)","p.400,I>I","rs1126476",0.49,0.46,0.43,0.49,0.42,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GLP1R",0.94,77,"同义",13203,"0.41=36/87",null,2740,"6p21","NM_002062.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28968",61,23,0.38,{"$nulls":3},"A有","12307A","GM2A","chr5:150647012","c.582A>G(E4)","p.194,X>X","rs1048723",0.27,0.25,0.23,0.27,0.29,0.26,"杂合","无关","有rs号，MAF>=5%",null,"GM2神经节苷脂贮积病，AB变异型","AR",272750,5,3,5,1,"GM2A",1,110,"同义",13203,"0.35=38/109",null,2760,"5q33.1","NM_000405.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v720",82,40,0.49,{"$nulls":3},"A有","12307A","GNA11","chr19:3119239","c.771C>T(E6)","p.257,T>T","rs4900",0.35,0.42,0.4,0.44,0.39,0.42,"杂合","无关","有rs号，MAF>=5%",null,"II型家族性低尿钙高钙血症","AD",145981,5,1,1,2,"GNA11",1,45,"同义",13203,"0.45=70/156",null,2767,"19p13.3","NM_002067.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20019",21,13,0.62,{"$nulls":3},"A有","12307A","GNG8","chr19:47137459","c.87C>T(E2)","p.29,V>V","rs12974613",0.21,0.07,0.062,0.078,0.062,0.073,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GNG8",1,56,"剪切位点",13202,"0.62=18/29",null,94235,"19q13.32","NM_033258.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31486",46,9,0.2,{"$nulls":3},"A有","12307A","GOLGA6A","chr15:74364603","c.1549G>A(E14)","p.517,P>S","rs142837205",{"$nulls":5},0.039,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"GOLGA6A",1,340,"错义",12310,"0.21=16/76",null,342096,"15q24.1","NM_001038640.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18304",48,48,1,{"$nulls":3},"A有","12307A","GOLGB1","chr3:121435624","c.1248C>T(E9)","p.416,E>E","rs9812411",0.65,0.87,0.87,0.87,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"GOLGB1",1,150,"同义",13203,"1.00=77/77",null,2804,"3q13","NM_001256486.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v88",18,17,0.94,{"$nulls":3},"A有","12307A","GP1BA","chr17:4837210","c.1311A>G(E2)","p.437,P>P","rs2586529",0.84,0.66,0.68,0.64,0.47,null,"纯合","无关","有rs号，MAF>=5%",null,"巨大血小板综合征/出血性疾病，血小板1型","AR",231200,5,1,3,4,"GP1BA",1,67,"同义",13203,"0.90=19/21",null,2811,"17pter-p12","NM_000173.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12752",105,49,0.47,{"$nulls":3},"A有","12307A","GPATCH2L","chr14:76638358","c.900A>G(E4)","p.300,Q>Q","rs12432212",0.011,0.046,0.033,0.058,0.041,0.048,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"GPATCH2L",1,150,"同义",13103,"0.43=71/167",null,55668,"14q24.3","NM_017926.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10895",14,14,1,{"$nulls":3},"A有","12307A","GPR113","chr2:26534801","c.1795G>A(E11)","p.599,H>Y","rs7568529",0.67,0.78,0.77,0.79,0.67,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GPR113",1,59,"错义",12210,"1.00=25/25",null,165082,"2p23.3","NM_001145168.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27913",58,58,1,{"$nulls":3},"A有","12307A","GPR116","chr6:46827126","c.2514C>T(E17)","p.838,S>S","rs610856",0.84,0.99,1,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"GPR116",1,200,"同义",13203,"1.00=86/86",null,221395,"6p12.3","NM_001098518.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12997",29,11,0.38,{"$nulls":3},"A有","12307A","GPR133","chr12:131622735","c.2490T>C(E24)","p.830,S>S","rs7302341",0.66,0.93,0.95,0.92,0.86,0.92,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GPR133",1,110,"同义",13203,"0.41=17/41",null,283383,"12q24.33","NM_198827.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18907",15,15,1,{"$nulls":3},"A有","12307A","GPR56","chr16:57695604","IVS13-5C>T","剪切位点","rs2290177",0.26,0.47,0.47,0.47,0.46,0.53,"纯合","无关","有rs号，MAF>=5%",null,"双侧额叶多小脑回畸形","AR",606854,5,1,5,2,"GPR56",1,51,"剪切位点",16202,"1.00=21/21",null,9289,"16q13","NM_001145770.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15371",53,53,1,{"$nulls":3},"A有","12307A","GPR87","chr3:151012497","c.537T>C(E3)","p.179,L>L","rs2242353",0.8,0.66,0.7,0.62,0.68,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPR87",1,150,"同义",13203,"1.00=80/80",null,53836,"3q24","NM_023915.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v50",126,126,1,{"$nulls":3},"A有","12307A","GPR98","chr5:90020923","c.9927T>G(E47)","p.3309,P>P","rs16869042",{"$nulls":4},0.41,0.38,"纯合","未知","预测范围之外的同义突变",null,"家族性热性惊厥4型","AD",604352,4,1,18,2,"GPR98",1,240,"同义",13303,"1.00=194/194",null,84059,"5q13","NM_032119.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27487",47,20,0.43,{"$nulls":3},"A有","12307A","GPS2","chr17:7216540","c.795G>A(E9)","p.265,F>F","rs2270981",0.1,0.28,0.27,0.3,0.28,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPS2",1,88,"同义",13203,"0.41=34/83",null,2874,"17p13","NM_004489.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22171",2,2,1,{"$nulls":3},"A有","12307A","GRB10","chr7:50844739-50844740","UTR:插入TCTG","非编码区","rs113329689",0.8,0.77,0.71,0.82,null,null,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,3,0,"GRB10",1,140,"非编码区",2600,"1.00=2/2",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"]
["12307A(99)v20907",186,88,0.47,{"$nulls":3},"A有","12307A","GRHL2","chr8:102555474","c.26A>G(E2)","p.9,K>R","rs3735709",0.025,0.072,0.095,0.049,0.068,0.065,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"外胚层发育不良/身材矮小综合征",null,616029,3,2,5,2,"GRHL2",1,220,"错义",12120,"0.49=154/316",null,79977,"8q22.3","NM_024915.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17063",71,33,0.46,{"$nulls":3},"A有","12307A","GRIP1","chr12:66909389","IVS7+10C>T","非编码区","rs12316942",0.72,0.67,0.64,0.7,0.6,0.65,"杂合","无关","有rs号，MAF>=5%",null,"Fraser综合征","AR",219000,5,3,2,1,"GRIP1",1,230,"非编码区",16203,"0.50=55/111",null,23426,"12q14.3","NM_001178074.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9236",21,21,1,{"$nulls":3},"A有","12307A","GRM6","chr5:178415982","c.1308A>G(E6)","p.436,T>T","rs4701014",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19862333,"先天性静止性夜盲症1B","AR",257270,5,1,1,1,"GRM6",0.86,30,"同义",13203,"1.00=35/35",null,2916,"5q35","NM_000843.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3509",73,73,1,{"$nulls":3},"A有","12307A","GSE1","chr16:85706047","c.3244A>C(E15)","p.1082,R>R","rs9940601",0.68,0.86,0.85,0.87,0.84,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GSE1",0.94,37,"同义",13203,"1.00=125/125",{"$nulls":3},"NM_001134473.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4709",9,9,1,{"$nulls":3},"A有","12307A","GTPBP3","chr19:17450016","c.749T>C(E6)","p.250,V>A","rs3810206",0.62,0.27,0.25,0.29,0.28,0.26,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GTPBP3",0.87,15,"错义",12220,"1.00=13/13",null,84705,"19p13.11","NM_001128855.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8622",83,83,1,{"$nulls":3},"A有","12307A","GUCY2C","chr12:14794062","c.2022G>A(E18)","p.674,I>I","rs10772800",0.82,0.99,0.99,0.99,0.97,0.99,"纯合","无关","有rs号，MAF>=5%",null,"先天性腹泻6型/先天性早发型慢性腹泻6型","AD",614616,5,1,2,2,"GUCY2C",1,280,"同义",13203,"1.00=168/168",null,2984,"12p12","NM_004963.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1471",37,36,0.97,{"$nulls":3},"A有","12307A","GYPA","chr4:145041750","IVS1-9A>C","剪切位点","rs45468202",{"$nulls":5},0.32,"纯合","可能相关","mRNA剪接可能会受影响",null,"疟疾,易感",null,611162,2,1,6,1,"GYPA",1,470,"剪切位点",16301,"0.96=45/47",null,2993,"4q31.21","NM_002099.6","位于基因组多拷贝区域+DNA结构正常","疑似阳性"]
["12307A(99)v26529",84,23,0.27,{"$nulls":3},"A有","12307A","GZMB","chr14:25101589","c.280G>C(E3)","p.94,P>A","rs11539752",0.3,0.27,0.27,0.28,0.23,0.25,"杂合","无关","有rs号，MAF>=5%",23321921,{"$nulls":3},5,null,7,0,"GZMB",1,100,"错义",12220,"0.27=45/164",null,3002,"14q11.2","NM_004131.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12757",117,45,0.38,{"$nulls":3},"A有","12307A","HAUS6","chr9:19058425","c.2235G>A(E16)","p.745,L>L","rs11515236",0.32,0.14,0.12,0.16,0.13,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HAUS6",1,250,"同义",13203,"0.40=74/187",null,54801,"9p22.1","NM_001270890.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28506",101,101,1,{"$nulls":3},"A有","12307A","HCAR3","chr12:123200937","c.348T>G(E1)","p.116,I>I","rs1696352",0.46,0.55,0.48,0.61,0.68,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"HCAR3",1,120,"同义",13203,"1.00=173/173",null,8843,"12q24.31","NM_006018.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31781",105,50,0.48,{"$nulls":3},"A有","12307A","HCLS1","chr3:121361787","c.441G>A(E6)","p.147,H>H","rs2070178",0.23,0.26,0.24,0.28,0.3,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"HCLS1",1,150,"同义",13203,"0.44=88/198",null,3059,"3q13","NM_005335.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21932",107,53,0.5,{"$nulls":3},"A有","12307A","HEATR1","chr1:236718060","IVS41-8C>T","剪切位点","rs73113054",0.12,0.15,0.18,0.13,null,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,26,0,"HEATR1",1,270,"剪切位点",16202,"0.49=93/189",null,55127,"1q43","NM_018072.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29687",80,80,1,{"$nulls":3},"A有","12307A","HEATR7B2","chr5:40998196","c.4716T>C(E42)","p.1572,Q>Q","rs704040",0.62,0.67,0.63,0.71,0.71,0.7,"纯合","无关","有rs号，MAF>=5%",19221116,{"$nulls":3},5,null,12,0,"HEATR7B2",1,220,"同义",13203,"1.00=163/163",null,133558,"5p13.1","NM_173489.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4967",28,28,1,{"$nulls":3},"A有","12307A","HECW2","chr2:197172816","IVS10-7G>A","剪切位点","rs2305567",0.75,0.98,0.98,0.98,null,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"HECW2",1,190,"剪切位点",16201,"1.00=43/43",null,57520,"2q32.3","NM_020760.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21265",4,2,0.5,{"$nulls":3},"A有","12307A","HELZ2","chr20:62190412","m.9029G>A(E20)","非编码区","rs310628",0.57,0.51,0.53,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"HELZ2",0.82,7.6,"非编码区",14200,"0.50=2/4",{"$nulls":3},"NM_001037335.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8318",114,57,0.5,{"$nulls":3},"A有","12307A","HERC2","chr15:28443658","IVS49-9G>T","剪切位点","rs8041209",0.32,0.4,0.37,0.43,0.4,0.43,"杂合","无关","有rs号，MAF>=5%",null,"精神（智力）发育迟滞38型","AR",615516,5,3,10,2,"HERC2",0.98,180,"剪切位点",16201,"0.50=81/162",null,8924,"15q13","NM_004667.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26812",14,4,0.29,{"$nulls":3},"A有","12307A","HGC6.3","chr6:168377220","c.113T>G(E1)","p.38,Q>P","rs79173693",0.24,0.35,0.35,0.35,0.31,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HGC6.3",1,36,"错义",12220,"0.29=7/24",null,100128124,"6q27","NM_001129895.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11916",4,2,0.5,{"$nulls":3},"A有","12307A","HGS","chr17:79663931","c.1785T>C(E18)","p.595,P>P","rs8070488",0.25,0.19,0.19,0.2,0.15,0.22,"杂合","无关","有rs号，MAF>=5%",24439028,{"$nulls":3},5,null,4,0,"HGS",0.98,36,"同义",13203,"0.43=3/7",null,9146,"17q25","NM_004712.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11371",37,16,0.43,{"$nulls":3},"A有","12307A","HINFP","chr11:119005132","c.1478C>T(E11)","p.493,A>V","rs100803",0.4,0.75,0.72,0.77,0.73,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"HINFP",1,88,"错义",12220,"0.43=28/65",null,25988,"11q23.3","NM_015517.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15986",43,38,0.88,{"$nulls":3},"A有","12307A","HIST1H4J","chr6:27792221","m.319C>T(E1)","非编码区","rs200499",0.95,0.93,0.96,0.89,null,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"HIST1H4J",1,150,"非编码区",14200,"0.92=55/60",null,8363,"6p22.1","NM_021968.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11095",151,60,0.4,{"$nulls":3},"A有","12307A","HKR1","chr19:37835658","c.72C>T(E3)","p.24,S>S","rs2305115",0.097,0.062,0.052,0.073,0.089,0.086,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HKR1",1,160,"同义",13203,"0.42=115/273",null,284459,"19q13.12","NM_181786.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5188",14,7,0.5,{"$nulls":3},"A有","12307A","HLA-A","chr6:29912068","c.789A>G(E4)","p.263,G>G",{"$nulls":5},0.026,0.022,"杂合","未知","预测范围之外的同义突变",null,"严重皮肤副反应易感",null,608579,4,2,19,1,"HLA-A",1,27,"同义",13403,"0.40=8/20",null,3105,"6p21.3","NM_001242758.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3539",9,9,1,{"$nulls":3},"A有","12307A","HLA-C","chr6:31238053","c.829G>C(E4)","p.277,Q>E","rs707908",{"$nulls":4},0.7,0.76,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"人类免疫缺陷病毒易感1型",null,609423,3,1,20,2,"HLA-C",1,31,"错义",12320,"1.00=12/12",null,3107,"6p21.3","NM_002117.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3549",2,2,1,{"$nulls":3},"A有","12307A","HLA-C","chr6:31239827","c.22C>T(E1)","p.8,A>T","rs2308525",0.75,0.78,0.74,0.82,0.75,0.81,"纯合","无关","有rs号，MAF>=5%",null,"银屑病易感1型",null,177900,5,1,20,2,"HLA-C",1,31,"错义",12220,"1.00=3/3",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"]
["12307A(99)v17870",103,102,0.99,{"$nulls":3},"A有","12307A","HLA-DQA1","chr6:32605295","c.60C>T(E1)","p.20,P>P",null,null,0.42,0.41,0.44,0.41,0.41,"纯合","未知","预测范围之外的同义突变",null,"乳糜泻","AR",212750,4,1,4,1,"HLA-DQA1",0.53,52,"同义",13403,"0.99=193/194",null,3117,"6p21.3","NM_002122.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28542",55,33,0.6,{"$nulls":3},"A有","12307A","HLA-DQB1","chr6:32629737","IVS3+7C>T","非编码区","rs9273912",0.21,0.17,0.17,0.16,0.16,0.17,"杂合","无关","有rs号，MAF>=5%",null,"多发性硬化症（易感）",null,126200,5,2,25,3,"HLA-DQB1",0.99,84,"非编码区",16203,"0.57=42/74",null,3119,"6p21.3","NM_001243961.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28549",49,49,1,{"$nulls":3},"A有","12307A","HLA-DQB1","chr6:32634405","m.62C>T(E1)","非编码区","rs1049053",0.8,0.88,0.91,0.86,0.67,0.83,"纯合","无关","有rs号，MAF>=5%",null,"Creutzfeldt-Jakob病","AD",123400,5,1,25,3,"HLA-DQB1",0.99,84,"非编码区",14200,"0.99=81/82",null,3119,"6p21.3","NM_001243961.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7208",68,43,0.63,{"$nulls":3},"A有","12307A","HLA-DRB1","chr6:32548026","c.785G>C(E5)","p.262,T>R",{"$nulls":5},0.27,0.39,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"类肉瘤病,易感1型",null,181000,3,2,13,3,"HLA-DRB1",1,140,"错义",12420,"0.67=90/135",null,3123,"6p21.3","NM_002124.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8242",80,74,0.93,{"$nulls":3},"A有","12307A","HLA-DRB5","chr6:32497961","c.41T>G(E1)","p.14,K>T",{"$nulls":5},0.56,0.46,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"HLA-DRB5",1,33,"错义",12420,"0.92=108/117",null,3127,"6p21.3","NM_002125.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27912",106,106,1,{"$nulls":3},"A有","12307A","HMHB1","chr5:143200053","c.46C>T(E2)","p.16,H>Y","rs161557",0.29,0.41,0.37,0.46,0.47,0.41,"纯合","无关","有rs号，MAF>=5%",19001137,{"$nulls":3},5,null,1,0,"HMHB1",1,200,"错义",12210,"0.99=187/188",null,57824,"5q31.3","NM_021182.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6094",3,3,1,{"$nulls":3},"A有","12307A","HNF1A","chr12:121437382","c.1720A>G(E9)","p.574,S>G","rs1169305",0.99,1,1,1,0.85,1,"纯合","无关","有rs号，MAF>=5%",null,"非乳头状肾细胞癌",null,144700,5,1,2,6,"HNF1A",1,42,"错义",12230,"1.00=5/5",null,6927,"12q24.2","NM_000545.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19355",2,2,1,{"$nulls":3},"A有","12307A","HOOK1","chr1:60340274","m.4081A>G(E22)","非编码区","rs41287718",0.086,0.072,0.071,0.073,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HOOK1",1,270,"非编码区",14200,"1.00=4/4",null,51361,"1p32.1","NM_015888.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23409",72,71,0.99,{"$nulls":3},"A有","12307A","HPS5","chr11:18327684","c.480G>T(E6)","p.160,L>L","rs1140047",0.8,0.98,0.99,0.98,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",null,"Hermansky-Pudlak综合征5型","AR",614074,5,1,2,1,"HPS5",1,250,"剪切位点",13202,"0.99=118/119",null,11234,"11p14","NM_007216.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24060",127,127,1,{"$nulls":3},"A有","12307A","HRG","chr3:186395572","c.1478A>T(E7)","p.493,N>I","rs1042464",0.65,0.8,0.82,0.78,0.76,0.8,"纯合","无关","有rs号，MAF>=5%","17903294;17903300","富组氨酸糖蛋白缺乏性易栓症",null,613116,5,1,4,1,"HRG",1,220,"错义",12220,"1.00=237/237",null,3273,"3q27","NM_000412.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15974",76,22,0.29,{"$nulls":3},"A有","12307A","HS3ST3A1","chr17:13399616","c.1119A>T(E2)","p.373,P>P","rs62057033",0.42,0.55,0.58,0.52,0.36,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HS3ST3A1",0.78,37,"同义",13203,"0.26=32/125",null,9955,"17p12","NM_006042.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12857",123,58,0.47,{"$nulls":3},"A有","12307A","HSPA4","chr5:132424743","IVS9-4C>T","剪切位点","rs72667113",0.091,0.36,0.32,0.39,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HSPA4",0.99,250,"剪切位点",16202,"0.48=97/204",null,3308,"5q31.1","NM_002154.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16415",81,38,0.47,{"$nulls":3},"A有","12307A","HSPD1","chr2:198363555","c.18T>C(E2)","p.6,T>T","rs79630442",0.0042,0.026,0.014,0.039,0.034,0.026,"杂合","未知","预测范围之外的同义突变",null,"遗传性痉挛性截瘫13型","AD",605280,4,1,2,2,"HSPD1",1,260,"同义",13103,"0.44=49/111",null,3329,"2q33.1","NM_002156.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15634",2,2,1,{"$nulls":3},"A有","12307A","HSPG2","chr1:22191454","c.4508G>A(E36)","p.1503,A>V","rs897471",0.69,0.89,0.88,0.91,0.68,0.9,"纯合","无关","有rs号，MAF>=5%",null,"Schwartz-Jampel综合征1（软骨营养障碍性肌强直）","AR",255800,5,1,15,2,"HSPG2",0.99,27,"错义",12210,"1.00=5/5",null,3339,"1p36.1-p34","NM_005529.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11974",43,18,0.42,{"$nulls":3},"A有","12307A","HTRA4","chr8:38845716","m.1645A>G(E9)","非编码区","rs7823125",0.46,0.75,0.76,0.74,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HTRA4",0.87,150,"非编码区",14200,"0.41=19/46",null,203100,"8p11.22","NM_153692.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29422",96,44,0.46,{"$nulls":3},"A有","12307A","HYDIN","chr16:70917855","c.9947A>G(E59)","p.3316,L>P","rs1774331",{"$nulls":4},0.49,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"原发性纤毛运动障碍5型","AR",608647,3,3,61,1,"HYDIN",1,380,"错义",12320,"0.48=81/169",null,54768,"16q22.2","NM_001270974.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29440",95,48,0.51,{"$nulls":3},"A有","12307A","HYDIN","chr16:71061495","c.3052A>G(E20)","p.1018,X>Q","rs1022220",{"$nulls":4},0.5,null,"杂合","较高","run-on突变可能会导致蛋白翻译错误延长",null,"原发性纤毛运动障碍5型","AR",608647,1,3,61,1,"HYDIN",1,380,"加长",15300,"0.49=70/142",null,54768,"16q22.2","NM_017558.4","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12307A(99)v3080",36,12,0.33,{"$nulls":3},"A有","12307A","ICAM3","chr19:10445088","IVS5-4T>G","剪切位点","rs540019072",0.0002,0,0,0,null,1.9E-3,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"ICAM3",1,42,"剪切位点",16102,"0.45=26/58",null,3385,"19p13.3-p13.2","NM_002162.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15123",4,3,0.75,{"$nulls":3},"A有","12307A","IDUA","chr4:996248","c.1164G>C(E8)","p.388,T>T","rs6836258",0.22,0.24,0.24,0.24,0.14,0.29,"杂合","无关","有rs号，MAF>=5%",null,"粘多糖贮积症I-S型/Scheie综合征(以前MPS V)","AR",607016,5,3,6,3,"IDUA",0.75,20,"同义",13203,"0.80=4/5",null,3425,"4p16.3","NM_000203.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30339",61,61,1,{"$nulls":3},"A有","12307A","IFIT1","chr10:91162677","c.645C>T(E3)","p.215,D>D","rs303210",0.24,0.44,0.49,0.39,0.44,0.46,"纯合","无关","有rs号，MAF>=5%",20411041,{"$nulls":3},5,null,3,0,"IFIT1",1,130,"同义",13203,"1.00=104/104",null,3434,"10q23.31","NM_001270927.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30115",141,68,0.48,{"$nulls":3},"A有","12307A","IFNA17","chr9:21228182","m.40G>T(E1)","非编码区","rs10757201",0.29,0.49,0.48,0.5,null,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"IFNA17",1,380,"非编码区",14200,"0.50=125/251",null,3451,"9p22","NM_021268.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30120",141,68,0.48,{"$nulls":3},"A有","12307A","IFNA17","chr9:21228183","m.39C>G(E1)","非编码区","rs10757202",0.29,0.49,0.48,0.5,null,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"IFNA17",1,380,"非编码区",14200,"0.50=125/251",null,3451,"9p22","NM_021268.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3484",33,16,0.48,{"$nulls":3},"A有","12307A","IGFBP3","chr7:45956969","c.473T>G(E2)","p.158,H>P","rs9282734",0.029,0.06,0.057,0.063,0.042,0.068,"杂合","可能相关","蛋白结构预测结果为有害","18562769;19240240;19603096;20302654",{"$nulls":3},2,null,1,0,"IGFBP3",0.53,62,"错义",12110,"0.45=20/44",null,3486,"7p13-p12","NM_000598.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9607",7,4,0.57,{"$nulls":3},"A有","12307A","IGFN1","chr1:201183439","IVS13+10C>T","非编码区","rs2282416",0.16,0.087,0.095,0.078,null,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,23,0,"IGFN1",1,130,"非编码区",16203,"0.67=8/12",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"]
["12307A(99)v28247",100,99,0.99,{"$nulls":3},"A有","12307A","IGSF1","chrX:130415818","c.1347T>C(E8)","p.449,E>E","rs1128617",null,0.69,0.68,0.69,0.72,0.69,"纯合","未知","预测范围之外的同义突变",null,"中枢性甲减和睾丸肿大","XR",300888,4,1,5,1,"IGSF1",1,160,"同义",13303,"0.99=162/163",null,3547,"Xq25","NM_001170961.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16110",44,14,0.32,{"$nulls":3},"A有","12307A","IGSF3","chr1:117156600","c.619T>C(E4)","p.207,S>G","rs547741844",{"$nulls":4},0.38,0,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"泪管缺陷","AR",149700,3,3,21,1,"IGSF3",1,79,"错义",12320,"0.33=26/79",null,3321,"1p13","NM_001007237.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22806",25,25,1,{"$nulls":3},"A有","12307A","IKBKE","chr1:206647787","c.201T>C(E4)","p.67,I>I","rs1539243",0.9,0.99,1,0.99,0.94,0.98,"纯合","无关","有rs号，MAF>=5%",19786281,{"$nulls":3},5,null,4,0,"IKBKE",1,50,"同义",13203,"1.00=43/43",null,9641,"1q32.1","NM_001193322.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4015",55,29,0.53,{"$nulls":3},"A有","12307A","IL12RB1","chr19:18191664","c.387C>G(E4)","p.129,V>V","rs11086087",0.13,0.29,0.3,0.28,0.23,0.27,"杂合","无关","有rs号，MAF>=5%",19460324,"免疫缺陷30",null,614891,5,2,5,1,"IL12RB1",0.99,76,"同义",13203,"0.49=52/106",null,3594,"19p13.1","NM_005535.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20849",90,38,0.42,{"$nulls":3},"A有","12307A","IL1RL1","chr2:102968212","c.1502A>G(E11)","p.501,Q>R","rs10204137",0.38,0.15,0.15,0.15,0.15,0.12,"杂合","无关","有rs号，MAF>=5%",19671251,{"$nulls":3},5,null,9,0,"IL1RL1",1,260,"错义",12220,"0.42=63/151",null,9173,"2q12","NM_016232.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21328",7,7,1,{"$nulls":3},"A有","12307A","IL34","chr16:70680744","m.449G>C(E2)","非编码区","rs3813904",0.6,0.48,0.5,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"IL34",1,60,"非编码区",14200,"1.00=9/9",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"]
["12307A(99)v16684",3,2,0.67,{"$nulls":3},"A有","12307A","IL6R","chr1:154410490","m.1966T>C(E7)","非编码区","rs61812593",0.18,0.096,0.11,0.078,null,null,"杂合","无关","有rs号，MAF>=5%",null,"血清可溶性白细胞介素-6受体数量性状位点",null,614689,5,2,3,2,"IL6R",0.87,83,"非编码区",14200,"0.67=2/3",null,3570,"1q21","NM_001206866.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27341",172,83,0.48,{"$nulls":3},"A有","12307A","INADL","chr1:62232130","c.369T>C(E4)","p.123,I>I","rs11207827",0.26,0.4,0.4,0.4,0.48,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"INADL",1,280,"同义",13203,"0.46=151/325",null,10207,"1p31.3","NM_176877.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22282",207,91,0.44,{"$nulls":3},"A有","12307A","INPP4B","chr4:143043340","c.2076A>G(E21)","p.692,V>V","rs2270658",0.15,0.26,0.25,0.28,0.25,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"INPP4B",1,270,"同义",13203,"0.47=163/347",null,8821,"4q31.21","NM_001101669.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25929",10,10,1,{"$nulls":3},"A有","12307A","INS","chr11:2181060","m.414T>G(E3)","非编码区","rs3842753",0.65,0.94,0.94,0.93,null,0.95,"纯合","无关","有rs号，MAF>=5%",null,"年轻起病成人型糖尿病10型","AD",613370,5,1,1,3,"INS",1,27,"非编码区",14200,"1.00=17/17",null,3630,"11p15.5","NM_000207.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v551",8,6,0.75,{"$nulls":3},"A有","12307A","INTS1","chr7:1538614","c.1134G>A(E8)","p.378,P>P","rs2289035",0.49,0.68,0.65,0.72,0.54,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"INTS1",0.97,18,"同义",13203,"0.80=8/10",null,26173,"7p22.3","NM_001080453.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10464",14,14,1,{"$nulls":3},"A有","12307A","IQCE","chr7:2649819","m.2247C>T(E21)","非编码区","rs3735110",0.44,0.5,0.46,0.55,null,0.51,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"IQCE",0.98,62,"非编码区",14200,"1.00=25/25",null,23288,"7p22.3","NM_001100390.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12086",237,236,1,{"$nulls":3},"A有","12307A","IQGAP2","chr5:75884734","c.462G>A(E6)","p.154,L>L","rs1131232",null,0.77,0.75,0.79,0.75,0.74,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"IQGAP2",1,270,"同义",13303,"1.00=450/452",null,10788,"5q13.3","NM_006633.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22417",4,2,0.5,{"$nulls":3},"A有","12307A","IRF2BP1","chr19:46388379","c.654C>G(E1)","p.218,R>R","rs3826892",0.16,0.43,0.43,0.42,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"IRF2BP1",0.59,7,"同义",13203,"0.50=3/6",null,26145,"19q13.32","NM_015649.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10717",70,36,0.51,{"$nulls":3},"A有","12307A","ITFG3","chr16:304514","c.102C>T(E3)","p.34,N>N","rs3213508",0.2,0.36,0.33,0.38,0.29,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ITFG3",0.97,46,"同义",13203,"0.48=61/128",null,83986,"16p13.3","NM_032039.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28910",159,159,1,{"$nulls":3},"A有","12307A","ITGAV","chr2:187532417","c.2209G>A(E24)","p.737,V>I","rs2230616",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ITGAV",1,290,"错义",12230,"1.00=275/276",null,3685,"2q31-q32","NM_001144999.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15279",54,28,0.52,{"$nulls":3},"A有","12307A","ITGB3","chr17:45364540","c.882T>C(E6)","p.294,P>P","rs5919",0.14,0.25,0.27,0.24,0.22,0.25,"杂合","无关","有rs号，MAF>=5%","17827388;17999363;20403199","心肌梗塞,易感1型",null,608446,5,2,4,3,"ITGB3",0.97,120,"同义",13203,"0.50=46/92",null,3690,"17q21.32","NM_000212.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4095",66,61,0.92,{"$nulls":3},"A有","12307A","ITIH5","chr10:7605078-7605078","c.2797(E14):缺失C","缺失移码","rs61199416",0.9,0.99,1,0.99,0.2,0.99,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,5,0,"ITIH5",1,130,"缺失移码",2120,"0.90=70/78",null,80760,"10p14","NM_030569.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21675",119,61,0.51,{"$nulls":3},"A有","12307A","ITPR2","chr12:26755546","IVS27+4C>T","剪切位点","rs3736185",0.5,0.2,0.17,0.23,0.22,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ITPR2",1,270,"剪切位点",16202,"0.46=94/203",null,3709,"12p11","NM_002223.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13396",53,53,1,{"$nulls":3},"A有","12307A","ITPRIPL1","chr2:96991492","m.250A>G(E2)","非编码区","rs772174",0.81,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ITPRIPL1",1,63,"非编码区",14200,"1.00=98/98",null,150771,"2q11.2","NM_001008949.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23226",89,39,0.44,{"$nulls":3},"A有","12307A","JAK1","chr1:65335095","c.546T>C(E6)","p.182,G>G","rs11585932",0.035,0.014,0.014,0.015,0.013,0.0094,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"JAK1",1,180,"同义",13103,"0.41=60/146",null,3716,"1p32.3-p31.3","NM_002227.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14199",4,4,1,{"$nulls":3},"A有","12307A","JKAMP","chr14:59971638","m.1913A>T(E7)","非编码区","rs12587515",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"JKAMP",1,330,"非编码区",14200,"1.00=5/5",null,51528,"14q23.1","NM_001098625.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17224",8,8,1,{"$nulls":3},"A有","12307A","JRK","chr8:143746416","c.1062A>G(E2)","p.354,H>H","rs754957",0.53,0.52,0.48,0.57,0.42,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"JRK",1,22,"同义",13203,"1.00=11/11",null,8629,"8q24.3","NM_001077527.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20078",144,73,0.51,{"$nulls":3},"A有","12307A","KANSL2","chr12:49048738","c.1333G>T(E9)","p.445,P>T","rs3741628",0.56,0.73,0.73,0.73,0.77,0.74,"杂合","无关","有rs号，MAF>=5%",17903298,{"$nulls":3},5,null,1,0,"KANSL2",1,190,"错义",12220,"0.54=139/256",null,54934,"12q13.11","NM_017822.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24204",54,54,1,{"$nulls":3},"A有","12307A","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",1,68,"同义",13203,"1.00=97/97",null,3736,"12p13.32","NM_000217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21543",32,21,0.66,{"$nulls":3},"A有","12307A","KCNH6","chr17:61611423","c.852T>C(E5)","p.284,D>D","rs7225568",0.45,0.28,0.27,0.29,0.23,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KCNH6",0.99,46,"同义",13203,"0.68=38/56",null,81033,"17q23.3","NM_030779.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3652",9,9,1,{"$nulls":3},"A有","12307A","KCNJ11","chr11:17409572","c.67T>C(E1)","p.23,K>E","rs5219",0.74,0.61,0.6,0.62,0.53,0.64,"纯合","无关","有rs号，MAF>=5%","16733889;16873704;17463246;17463248;17570749;17786212;17903298;18162508;18224312;18282109;18319073;18423522;18426861;18498634;18591388;18678618;18689695;18689899;18694974;18782870;18852197;18972257;19002430;19020323;19033397;19056611;19207020;19258437;19279076;19309528;19323962;19324937;19341491;19368707;19401414;19455305;19460916;19502414;19602701;19862325;19956539;20017978;20018041;20043853;20049090;20075150;20079163;20144327;20161779;20361036;20424228;20712903;21278902;21283728;21573802;21602532;22082043;22377712;23298195;23458876;23462794;23544998;23690305;24442125;24710510;24864266;24926958;24944790;24982668;24993573;24996284;9867219;15579791;15797964;17463249","新生儿暂时性糖尿病3型",null,610582,5,1,2,4,"KCNJ11",1,39,"错义",12220,"1.00=14/14",null,3767,"11p15.1","NM_000525.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7538",39,39,1,{"$nulls":3},"A有","12307A","KCNJ5","chr11:128781339","c.171T>C(E2)","p.57,S>S","rs6590357",0.87,0.88,0.86,0.91,0.87,0.88,"纯合","无关","有rs号，MAF>=5%","19208499;21555883;22645387","家族性醛固酮过多症3型","AD",613677,5,1,5,2,"KCNJ5",1,81,"同义",13203,"1.00=55/55",null,3762,"11q24","NM_000890.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25715",10,3,0.3,{"$nulls":3},"A有","12307A","KCNQ1","chr11:2797237","c.1638G>A(E13)","p.546,S>S","rs1057128",0.18,0.29,0.3,0.28,0.25,0.39,"杂合","无关","有rs号，MAF>=5%",20644730,"家族性房颤3型","AD",607554,5,1,1,4,"KCNQ1",0.86,48,"同义",13203,"0.25=4/16",null,3784,"11p15.5","NM_000218.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19854",10,10,1,{"$nulls":3},"A有","12307A","KCNS3","chr2:18113789","m.1894G>A(E3)","非编码区","rs3747515",0.26,0.42,0.38,0.46,null,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KCNS3",1,110,"非编码区",14200,"1.00=11/11",null,3790,"2p24","NM_002252.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24639",258,124,0.48,{"$nulls":3},"A有","12307A","KDELC1","chr13:103449202","c.340T>C(E2)","p.114,I>V","rs1047740",0.42,0.5,0.52,0.48,0.52,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KDELC1",1,260,"错义",12220,"0.49=255/517",null,79070,"13q33","NM_024089.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5778",174,88,0.51,{"$nulls":3},"A有","12307A","KHDRBS2","chr6:62887099","c.210C>T(E2)","p.70,Q>Q","rs6921170",0.59,0.57,0.61,0.52,0.51,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KHDRBS2",1,250,"同义",13203,"0.47=153/324",null,202559,"6q11.1","NM_152688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29803",66,30,0.45,{"$nulls":3},"A有","12307A","KIAA0040","chr1:175129691","m.1153G>T(E5)","非编码区","rs2269650",0.43,0.56,0.49,0.64,0.59,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KIAA0040",1,55,"非编码区",14200,"0.45=48/107",null,9674,"1q24-q25","NM_001162893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24588",7,4,0.57,{"$nulls":3},"A有","12307A","KIAA0355","chr19:34843875-34843882","m.4087(E14)至m.4094(E14):缺失GCCTGCCT","非编码区","rs72121022",0.64,0.83,0.83,0.83,0.059,0.81,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"KIAA0355",1,110,"非编码区",2420,"0.50=5/10",null,9710,"19q13.11","NM_014686.3","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12307A(99)v25004",21,21,1,{"$nulls":3},"A有","12307A","KIAA1161","chr9:34372783","c.159G>C(E2)","p.53,D>E","rs4879781",0.94,0.97,0.97,0.97,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KIAA1161",1,18,"错义",12220,"1.00=31/31",null,57462,"9p13.3","NM_020702.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16481",127,127,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,11,0,"KIAA1324",1,130,"同义",13203,"1.00=232/232",null,57535,"1p13.3","NM_001267048.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14551",4,2,0.5,{"$nulls":3},"A有","12307A","KIAA1456","chr8:12879707","m.1721T>G(E2)","非编码区","rs476023",0.7,0.77,0.8,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"KIAA1456",1,150,"非编码区",14200,"0.50=2/4",null,57604,"8p22","NM_001099677.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19526",58,27,0.47,{"$nulls":3},"A有","12307A","KIAA1462","chr10:30317826","c.1251A>G(E3)","p.417,Y>Y","rs7920682",0.53,0.3,0.29,0.31,0.32,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KIAA1462",1,66,"同义",13203,"0.49=49/99",null,57608,"10p11.23","NM_020848.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16280",19,9,0.47,{"$nulls":3},"A有","12307A","KIAA1609","chr16:84522897","c.516G>C(E4)","p.172,D>E","rs436278",0.62,0.91,0.9,0.93,0.87,0.91,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KIAA1609",1,88,"错义",12220,"0.50=15/30",null,57707,"16q24.1","NM_020947.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26072",17,17,1,{"$nulls":3},"A有","12307A","KIDINS220","chr2:8870814","m.5534A>G(E30)","非编码区","rs6431959",0.95,0.95,0.94,0.95,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KIDINS220",1,240,"非编码区",14200,"1.00=22/22",null,57498,"2p24","NM_020738.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6993",19,8,0.42,{"$nulls":3},"A有","12307A","KIF13B","chr8:29005128","IVS16-9A>G","剪切位点","rs13263819",0.32,0.15,0.16,0.15,null,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KIF13B",0.93,210,"剪切位点",16202,"0.38=12/32",null,23303,"8p12","NM_015254.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1731",132,66,0.5,{"$nulls":3},"A有","12307A","KIF1B","chr1:10318652","c.285C>G(E4)","p.95,A>A","rs12402052",0.23,0.33,0.37,0.29,0.29,0.3,"杂合","无关","有rs号，MAF>=5%",null,"神经母细胞瘤(成神经细胞瘤)","AD",256700,5,1,3,3,"KIF1B",1,200,"同义",13203,"0.52=123/237",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"]
["12307A(99)v4088",4,4,1,{"$nulls":3},"A有","12307A","KIF7","chr15:90191827","c.1102T>C(E5)","p.368,T>A","rs8037349",0.86,0.76,0.8,0.72,0.62,0.81,"纯合","无关","有rs号，MAF>=5%",null,"Hydrolethalus综合症2型","AR",614120,5,1,4,2,"KIF7",0.83,23,"错义",12220,"1.00=8/8",null,374654,"15q26.1","NM_198525.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1031",210,87,0.41,{"$nulls":3},"A有","12307A","KIN","chr10:7798033","m.1286A>T(E13)","非编码区","rs75487802",0.07,0.23,0.22,0.23,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KIN",1,320,"非编码区",14200,"0.39=155/401",null,22944,"10p15-p14","NM_012311.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8572",132,66,0.5,{"$nulls":3},"A有","12307A","KL","chr13:33634983","c.1767C>T(E4)","p.589,H>H","rs564481",0.25,0.16,0.17,0.15,0.2,0.16,"杂合","无关","有rs号，MAF>=5%","20394945;21695423","家族性瘤样钙化高磷酸盐血症","AR",211900,5,3,3,1,"KL",0.79,120,"同义",13203,"0.49=108/219",null,9365,"13q12","NM_004795.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9238",101,101,1,{"$nulls":3},"A有","12307A","KLHL10","chr17:39998141","c.261C>T(E2)","p.87,P>P","rs1529933",0.78,0.82,0.85,0.79,0.82,0.82,"纯合","无关","有rs号，MAF>=5%",null,"生精障碍11型","AD",615081,5,1,1,1,"KLHL10",1,140,"同义",13203,"1.00=165/165",null,317719,"17q21.2","NM_152467.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2423",28,17,0.61,{"$nulls":3},"A有","12307A","KLHL38","chr8:124664167","c.1000T>C(E1)","p.334,I>V","rs11784192",0.73,0.68,0.64,0.72,0.68,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KLHL38",1,91,"错义",12220,"0.61=23/38",null,340359,"8q24.13","NM_001081675.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23169",10,10,1,{"$nulls":3},"A有","12307A","KLK10","chr19:51517286","m.1721G>A(E6)","非编码区","rs2691258",0.59,0.57,0.6,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"KLK10",0.98,38,"非编码区",14200,"1.00=10/10",null,5655,"19q13","NM_001077500.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22647",375,366,0.98,{"$nulls":3},"A有","12307A","KLRC3","chr12:10571042","c.387A>G(E4)","p.129,Y>Y","rs2741882",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"KLRC3",0.95,380,"同义",13203,"0.97=713/733",null,3823,"12p13","NM_002261.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11451",18,9,0.5,{"$nulls":3},"A有","12307A","KMO","chr1:241757549","m.3866G>T(E15)","非编码区","rs3765809",0.18,0.091,0.095,0.087,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KMO",1,290,"非编码区",14200,"0.48=10/21",null,8564,"1q42-q44","NM_003679.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23547",20,10,0.5,{"$nulls":3},"A有","12307A","KPRP","chr1:152732106","c.42A>T(E2)","p.14,Q>H","rs17612167",0.18,0.19,0.21,0.16,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KPRP",1,82,"错义",12220,"0.59=27/46",null,448834,"1q21.3","NM_001025231.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24171",20,20,1,{"$nulls":3},"A有","12307A","KRT1","chr12:53069014","c.1898T>C(E9)","p.633,K>R","rs14024",0.28,0.56,0.55,0.56,0.55,0.59,"纯合","无关","有rs号，MAF>=5%",17668073,"纹状掌跖角化症3型",null,607654,5,1,2,6,"KRT1",1,130,"错义",12220,"1.00=32/32",null,3848,"12q13.13","NM_006121.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22154",8,8,1,{"$nulls":3},"A有","12307A","KRT14","chr17:39742898","c.189G>A(E1)","p.63,C>C","rs11551758",0.68,0.95,0.96,0.95,0.83,0.94,"纯合","无关","有rs号，MAF>=5%",null,"单纯性大疱性表皮松解症Dowling-Meara型","AD",131760,5,1,4,6,"KRT14",0.98,68,"同义",13203,"1.00=15/15",null,3861,"17q12-q21","NM_000526.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22152",8,8,1,{"$nulls":3},"A有","12307A","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,"常染色体隐性单纯性大疱性表皮松解症","AR",601001,5,1,4,6,"KRT14",0.98,68,"错义",12230,"1.00=15/15",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"]
["12307A(99)v15819",22,10,0.45,{"$nulls":3},"A有","12307A","KRT32","chr17:39619078","IVS6+4G>A","剪切位点","rs2857258",0.065,0.058,0.029,0.087,null,0.045,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"KRT32",1,52,"剪切位点",16202,"0.38=13/34",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"]
["12307A(99)v7391",71,62,0.87,{"$nulls":3},"A有","12307A","KRT5","chr12:52912909","c.591G>T(E2)","p.197,D>E","rs641615",0.22,0.33,0.31,0.35,0.28,0.33,"杂合","无关","有rs号，MAF>=5%",null,"局限性单纯性大疱性表皮松解症","AD",131800,5,1,2,7,"KRT5",1,94,"错义",12220,"0.85=108/127",null,3852,"12q13.13","NM_000424.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16672",41,22,0.54,{"$nulls":3},"A有","12307A","KRT71","chr12:52943144","IVS2-7G>A","剪切位点","rs4761930",0.33,0.47,0.45,0.49,0.43,0.51,"杂合","无关","有rs号，MAF>=5%",null,"稀毛症13型",null,615896,5,2,5,1,"KRT71",1,69,"剪切位点",16202,"0.45=29/65",null,112802,"12q13.13","NM_033448.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1522",76,76,1,{"$nulls":3},"A有","12307A","KRT74","chr12:52965761","c.714C>T(E3)","p.238,T>T","rs673449",0.89,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"常显性遗传羊毛卷发","AD",194300,5,1,4,2,"KRT74",1,61,"同义",13203,"0.99=140/141",null,121391,"12q13.13","NM_175053.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20861",5,3,0.6,{"$nulls":3},"A有","12307A","KRTAP10-2","chr21:45971023","c.319G>T(E1)","p.107,P>T","rs478967",0.23,0.37,0.36,0.38,0.36,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KRTAP10-2",1,10,"错义",12210,"0.44=4/9",null,386679,"21q22.3","NM_198693.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5806",131,61,0.47,{"$nulls":3},"A有","12307A","KRTAP21-2","chr21:32119495","c.26C>G(E1)","p.9,C>S","rs12053674",0.21,0.37,0.38,0.36,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KRTAP21-2",1,200,"错义",12220,"0.44=105/236",null,337978,"21q22.1","NM_181617.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7004",32,15,0.47,{"$nulls":3},"A有","12307A","KRTAP4-1","chr17:39340707","c.343C>T(E2)","p.115,A>T","rs398825",0.95,0.94,0.97,0.91,0.91,0.94,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KRTAP4-1",1,23,"错义",12230,"0.51=29/57",null,85285,"17q12-q21","NM_033060.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15204",7,4,0.57,{"$nulls":3},"A有","12307A","KRTAP5-5","chr11:1651169","c.99T>C(E1)","p.33,S>S","rs71454095",0.53,0.44,0.47,0.4,0.33,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KRTAP5-5",1,26,"同义",13203,"0.50=6/12",null,439915,"11p15.5","NM_001001480.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23442",21,7,0.33,{"$nulls":3},"A有","12307A","KRTAP9-4","chr17:39406589","m.651A>G(E1)","非编码区","rs4057758",0.96,0.94,0.98,0.91,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KRTAP9-4",1,270,"非编码区",14200,"0.26=7/27",null,85280,"17q12-q21","NM_033191.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25523",169,169,1,{"$nulls":3},"A有","12307A","L3MBTL4","chr18:6046717","IVS17+10T>C","非编码区","rs7234770",0.58,0.65,0.67,0.63,0.55,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"L3MBTL4",1,260,"非编码区",16203,"1.00=334/334",null,91133,"18p11.31","NM_173464.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29520",8,6,0.75,{"$nulls":3},"A有","12307A","LAMA5","chr20:60885142","IVS77-5C>A","剪切位点","rs2379129",0.35,0.5,0.46,0.54,null,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,19,0,"LAMA5",0.89,11,"剪切位点",16202,"0.73=8/11",null,3911,"20q13.2-q13.3","NM_005560.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30134",152,151,0.99,{"$nulls":3},"A有","12307A","LAMB1","chr7:107593989","c.3065T>C(E22)","p.1022,Q>R","rs20556",0.7,0.83,0.83,0.83,0.78,0.84,"纯合","无关","有rs号，MAF>=5%",null,"无脑回畸形5型","AR",615191,5,1,4,1,"LAMB1",1,180,"错义",12220,"1.00=263/264",null,3912,"7q22","NM_002291.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25362",5,5,1,{"$nulls":3},"A有","12307A","LAMC3","chr9:133948049","c.3244A>G(E19)","p.1082,S>G","rs2275140",0.7,0.63,0.6,0.67,0.59,0.65,"纯合","无关","有rs号，MAF>=5%",null,"枕骨大脑皮质发育障碍","AR",614115,5,1,10,1,"LAMC3",0.92,30,"错义",12220,"1.00=6/6",null,10319,"9q31-q34","NM_006059.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27232",69,41,0.59,{"$nulls":3},"A有","12307A","LARP4","chr12:50855195","m.1601A>G(E11)","非编码区","rs4351895",0.57,0.5,0.5,0.51,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LARP4",1,300,"非编码区",14200,"0.60=64/106",null,113251,"12q13.12","NM_001170804.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28269",2,2,1,{"$nulls":3},"A有","12307A","LBP","chr20:37005536","m.1777T>C(E15)","非编码区","rs745144",0.77,0.99,0.99,0.99,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LBP",1,130,"非编码区",14200,"1.00=2/2",null,3929,"20q11.23","NM_004139.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12678",16,16,1,{"$nulls":3},"A有","12307A","LCN12","chr9:139848688","c.531C>T(E5)","p.177,I>I","rs4880175",0.75,0.84,0.88,0.81,0.81,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LCN12",1,35,"同义",13203,"1.00=33/33",null,286256,"9q34.3","NM_178536.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1248",60,60,1,{"$nulls":3},"A有","12307A","LDLR","chr19:11242044","m.2822G>A(E18)","非编码区","rs14158",0.23,0.38,0.36,0.4,null,0.39,"纯合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,3,1,"LDLR",1,79,"非编码区",14200,"1.00=96/96",null,3949,"19p13.2","NM_000527.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21014",181,93,0.51,{"$nulls":3},"A有","12307A","LEPR","chr1:66067109","c.1029T>C(E9)","p.343,S>S","rs1805134",0.25,0.046,0.043,0.049,0.047,0.062,"杂合","无关","有rs号，MAF>=5%","18212354;19077438;20032477;20416077;21154838;21204206","肥胖","AR",614963,5,3,4,1,"LEPR",0.93,240,"同义",13203,"0.50=163/329",null,3953,"1p31","NM_001003679.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31388",66,34,0.52,{"$nulls":3},"A有","12307A","LGALS8","chr1:236714335","m.4335C>T(E12)","非编码区","rs2254487",0.43,0.5,0.5,0.5,null,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"LGALS8",1,230,"非编码区",14200,"0.49=39/80",null,3964,"1q43","NM_006499.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13615",7,7,1,{"$nulls":3},"A有","12307A","LHPP","chr10:126172863","c.281A>G(E2)","p.94,Q>R","rs6597801",0.9,0.93,0.92,0.93,0.83,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"LHPP",0.85,92,"错义",12220,"1.00=15/15",null,64077,"10q26.13","NM_001167880.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v858",88,88,1,{"$nulls":3},"A有","12307A","LILRA6","chr19:54745978","c.279T>C(E3)","p.93,A>A","rs1052964",{"$nulls":4},0.57,0.39,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"LILRA6",1,110,"同义",13303,"1.00=124/124",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"]
["12307A(99)v10433",168,92,0.55,{"$nulls":3},"A有","12307A","LILRB3","chr19:54726816","c.33A>T(E1)","p.11,L>L","rs80332440",{"$nulls":4},0.45,0.28,"杂合","未知","剪切位点预测容忍或无害的同义突变",{"$nulls":4},4,null,11,0,"LILRB3",1,140,"剪切位点",13302,"0.57=175/306",null,11025,"19q13.4","NM_001081450.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20654",6,2,0.33,{"$nulls":3},"A有","12307A","LIPE","chr19:42911769","c.1831G>A(E5)","p.611,R>C","rs34052647",0.023,0.072,0.062,0.083,0.047,0.06,"杂合","可能相关","蛋白结构预测结果为有害",null,"腹型肥胖-代谢综合征4型","AR",615980,2,3,1,1,"LIPE",0.92,39,"错义",12110,"0.43=3/7",null,3991,"19q13.2","NM_005357.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6043",176,83,0.47,{"$nulls":3},"A有","12307A","LIPF","chr10:90429652","c.382A>G(E5)","p.128,T>A","rs814628",0.17,0.28,0.24,0.32,0.29,0.3,"杂合","无关","有rs号，MAF>=5%","16385451;16700901;18254975",{"$nulls":3},5,null,2,0,"LIPF",0.99,300,"错义",12210,"0.46=146/317",null,8513,"10q23.31","NM_001198828.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15747",42,42,1,{"$nulls":3},"A有","12307A","LMBR1","chr7:156476683","m.1777T>A(E17)","非编码区","rs3735186",0.092,0.15,0.15,0.15,null,null,"纯合","无关","有rs号，MAF>=5%",null,"轴前多指畸形II型","AD",174500,5,1,1,5,"LMBR1",1,360,"非编码区",14200,"1.00=68/68",null,64327,"7q36","NM_022458.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31071",77,77,1,{"$nulls":3},"A有","12307A","LOC100506562","chr22:42072912","c.218C>A(E1)","p.73,R>M","rs1807497",0.78,0.89,0.88,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LOC100506562",null,null,"错义",12220,"1.00=119/119",null,100506562,"22q13.2","XM_003118818.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18629",27,8,0.3,{"$nulls":3},"A有","12307A","LOC100996575","chr1:144615104","c.252T>C(E4)","p.84,T>T","rs587609742",0.28,0.42,0.43,0.41,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"LOC100996575",1,170,"同义",13203,"0.24=8/34",null,100996575,"-","XM_003846383.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1724",244,95,0.39,{"$nulls":3},"A有","12307A","LOC101060092","chr10:17891705","c.1186A>G(E7)","p.396,S>G","rs1926736",0.62,0.57,0.54,0.6,0.5,0.55,"杂合","无关","有rs号，MAF>=5%","16385451;19902202;22392581;24969847",{"$nulls":3},5,null,3,0,"LOC101060092",1,300,"错义",12230,"0.32=138/425",{"$nulls":3},"XM_003959927.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2132",98,23,0.23,{"$nulls":3},"A有","12307A","LPAR3","chr1:85331808-85331809","m.212(E2)至m.211(E2):插入AGA","非编码区","rs146269415",0.74,0.52,0.55,0.49,0.033,0.5,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"LPAR3",1,130,"非编码区",2420,"0.23=24/104",null,23566,"1p22.3","NM_012152.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3123",162,162,1,{"$nulls":3},"A有","12307A","LRCH1","chr13:47308109","c.2061A>G(E19)","p.687,A>A","rs2298086",0.91,0.91,0.9,0.93,0.9,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LRCH1",0.98,210,"同义",13203,"1.00=299/299",null,23143,"13q14.11","NM_001164211.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28750",40,17,0.42,{"$nulls":3},"A有","12307A","LRIG3","chr12:59266250","m.3348T>C(E19)","非编码区","rs11172787",0.027,0.055,0.067,0.044,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"LRIG3",0.98,200,"非编码区",14100,"0.43=22/51",null,121227,"12q14.1","NM_001136051.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26577",127,59,0.46,{"$nulls":3},"A有","12307A","LRP2","chr2:170010985","c.12280T>C(E66)","p.4094,K>E","rs2075252",0.78,0.48,0.52,0.44,0.44,0.48,"杂合","无关","有rs号，MAF>=5%","17457342;18559602;22170372;23274376;24944790","Donnai-Barrow综合症","AR",222448,5,3,6,1,"LRP2",1,220,"错义",12220,"0.44=105/237",null,4036,"2q24-q31","NM_004525.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31621",14,6,0.43,{"$nulls":3},"A有","12307A","LRPAP1","chr4:3514695","m.1165A>G(E8)","非编码区","rs6789",0.39,0.37,0.41,0.32,0.36,0.43,"杂合","无关","有rs号，MAF>=5%",null,"近视23型","AR",615431,5,3,2,1,"LRPAP1",1,57,"非编码区",14200,"0.45=10/22",null,4043,"4p16.3","NM_002337.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1356",26,8,0.31,{"$nulls":3},"A有","12307A","LRRC16B","chr14:24529209","c.1899C>T(E23)","p.633,P>P","rs61564890",0.19,0.46,0.45,0.47,0.5,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LRRC16B",1,62,"同义",13203,"0.32=12/38",null,90668,"14q11.2","NM_138360.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25137",27,14,0.52,{"$nulls":3},"A有","12307A","LRRC56","chr11:551753","c.899G>A(E10)","p.300,R>H","rs4963198",0.65,0.86,0.86,0.85,0.82,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LRRC56",0.98,20,"错义",12220,"0.48=20/42",null,115399,"11p15.5","NM_198075.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24579",187,91,0.49,{"$nulls":3},"A有","12307A","LRRK2","chr12:40645257","IVS9-10C>A","剪切位点","rs7955902",0.32,0.36,0.33,0.39,0.29,0.35,"杂合","无关","有rs号，MAF>=5%",null,"帕金森病8型","AD",607060,5,1,12,1,"LRRK2",1,260,"剪切位点",16201,"0.49=152/310",null,120892,"12q12","NM_198578.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8275",46,19,0.41,{"$nulls":3},"A有","12307A","LRRN2","chr1:204587549","c.1572G>A(E3)","p.524,D>D",{"$nulls":6},0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"LRRN2",1,23,"同义",13403,"0.42=34/81",null,10446,"1q32.1","NM_006338.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5921",20,20,1,{"$nulls":3},"A有","12307A","LSS","chr21:47614443","c.1950A>G(E20)","p.650,H>H","rs2254522",0.34,0.57,0.53,0.6,0.56,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LSS",1,71,"同义",13203,"1.00=34/34",null,4047,"21q22.3","NM_001001438.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17111",124,60,0.48,{"$nulls":3},"A有","12307A","LXN","chr3:158388780","c.158T>C(E2)","p.53,H>R","rs8455",0.58,0.35,0.35,0.35,0.28,0.33,"杂合","无关","有rs号，MAF>=5%",16175505,{"$nulls":3},5,null,2,0,"LXN",1,240,"错义",12210,"0.47=118/252",null,56925,"3q25.32","NM_020169.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6987",12,5,0.42,{"$nulls":3},"A有","12307A","LYNX1","chr8:143857441-143857442","m.562(E2)至m.561(E2):插入GG","非编码区","rs3214637",null,0.77,0.8,0.73,0.065,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"LYNX1",0.93,32,"非编码区",2430,"0.42=5/12",null,66004,"8q24.3","NM_023946.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12426",53,26,0.49,{"$nulls":3},"A有","12307A","LYSMD4","chr15:100269737","c.485G>A(E6)","p.162,A>V","rs8041078",0.18,0.23,0.26,0.19,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"LYSMD4",1,100,"错义",12220,"0.47=40/86",null,145748,"15q26.3","NM_152449.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3212",39,17,0.44,{"$nulls":3},"A有","12307A","MAGEA11","chrX:148798223","c.990T>C(E5)","p.330,L>L","rs2233050",null,0.24,0.23,0.25,0.3,0.29,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"MAGEA11",1,120,"同义",13303,"0.36=23/64",null,4110,"Xq28","NM_001011544.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24110",59,29,0.49,{"$nulls":3},"A有","12307A","MAGEB3","chrX:30254530","c.489A>G(E5)","p.163,V>V","rs2071310",null,0.53,0.53,0.53,0.51,0.54,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"MAGEB3",1,160,"同义",13303,"0.47=38/80",null,4114,"Xp21.3","NM_002365.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16956",2,2,1,{"$nulls":3},"A有","12307A","MAGOHB","chr12:10758453","m.945G>A(E5)","非编码区","rs4763565",0.38,0.83,0.81,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MAGOHB",1,340,"非编码区",14200,"1.00=3/3",null,55110,"12p13.2","NM_018048.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13457",205,170,0.83,{"$nulls":3},"A有","12307A","MAN2A1","chr5:109190936-109190938","c.3072(E20)至c.3074(E20):缺失CTC","缺失非移码","rs3217225",0.27,0.62,0.63,0.6,0.1,0.64,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,3,0,"MAN2A1",1,300,"缺失非移码",2222,"0.82=190/231",null,4124,"5q21-q22","NM_002372.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9441",126,59,0.47,{"$nulls":3},"A有","12307A","MAP1A","chr15:43818052","c.4381G>A(E4)","p.1461,D>N","rs2245715",0.37,0.48,0.44,0.52,0.48,0.45,"杂合","无关","有rs号，MAF>=5%",18937294,{"$nulls":3},5,null,6,0,"MAP1A",1,78,"错义",12220,"0.49=98/198",null,4130,"15q15.3","NM_002373.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26517",21,8,0.38,{"$nulls":3},"A有","12307A","MAP2K7","chr19:7975464","IVS5+7A>C","非编码区","rs11879199",0.19,0.13,0.12,0.14,null,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MAP2K7",0.98,28,"非编码区",16203,"0.37=14/38",null,5609,"19p13.3-p13.2","NM_145185.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20280",139,64,0.46,{"$nulls":3},"A有","12307A","MAP3K5","chr6:136977568","c.1557T>C(E10)","p.519,L>L","rs2076260",0.44,0.58,0.59,0.57,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MAP3K5",0.93,250,"同义",13203,"0.47=112/240",null,4217,"6q22.33","NM_005923.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17745",6,6,1,{"$nulls":3},"A有","12307A","MAPK8IP2","chr22:51043278","c.1550G>A(E5)","p.517,S>N","rs3219201",0.64,0.85,0.87,0.84,0.66,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MAPK8IP2",0.71,20,"错义",12230,"1.00=6/6",null,23542,"22q13.33","NM_012324.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21770",37,17,0.46,{"$nulls":3},"A有","12307A","MARC1","chr1:220970028","c.493A>G(E3)","p.165,T>A","rs2642438",0.81,0.82,0.8,0.83,0.81,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MARC1",1,150,"错义",12220,"0.43=26/60",null,64757,"1q41","NM_022746.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25180",41,41,1,{"$nulls":3},"A有","12307A","MARVELD3","chr16:71668634","c.1134T>G(E3)","p.378,A>A","rs12932850",{"$nulls":4},0.71,0.74,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"MARVELD3",0.96,57,"同义",13303,"1.00=72/72",null,91862,"16q22.2","NM_052858.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22841",8,4,0.5,{"$nulls":3},"A有","12307A","MATN1","chr1:31186254","m.1700A>G(E8)","非编码区","rs1188405",0.59,0.55,0.56,0.55,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MATN1",0.99,48,"非编码区",14200,"0.56=5/9",null,4146,"1p35","NM_002379.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25615",13,6,0.46,{"$nulls":3},"A有","12307A","MAVS","chr20:3838441","c.277C>G(E3)","p.93,Q>E","rs17857295",0.29,0.56,0.58,0.54,0.48,0.56,"杂合","无关","有rs号，MAF>=5%","20011102;21127988;24949794",{"$nulls":3},5,null,1,0,"MAVS",0.99,43,"错义",12220,"0.58=15/26",null,57506,"20p13","NM_020746.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20577",52,52,1,{"$nulls":3},"A有","12307A","MBTPS1","chr16:84115483","c.1317G>A(E11)","p.439,P>P","rs3743631",0.53,0.69,0.66,0.73,0.66,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MBTPS1",1,170,"同义",13203,"1.00=89/89",null,8720,"16q24","NM_003791.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21897",8,8,1,{"$nulls":3},"A有","12307A","MCCC2","chr5:70952934","m.2077C>T(E17)","非编码区","rs1135667",0.81,0.98,0.99,0.98,null,null,"纯合","无关","有rs号，MAF>=5%",null,"3-甲基巴豆酰辅酶A羧化酶2缺陷症","AR",210210,5,1,2,1,"MCCC2",0.97,250,"非编码区",14200,"1.00=8/8",null,64087,"5q12-q13","NM_022132.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2057",15,9,0.6,{"$nulls":3},"A有","12307A","MDC1","chr6:30671760","c.5200C>T(E10)","p.1734,A>T","rs75355880",0.017,0.022,0.019,0.024,0.046,0.041,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,11,0,"MDC1",0.52,37,"错义",12120,"0.68=17/25",null,9656,"6p21.3","NM_014641.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27905",19,7,0.37,{"$nulls":3},"A有","12307A","MDGA2","chr14:47310983","m.3387T>C(E17)","非编码区","rs11844549",0.33,0.26,0.26,0.26,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MDGA2",1,250,"非编码区",14200,"0.36=8/22",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"]
["12307A(99)v23208",34,15,0.44,{"$nulls":3},"A有","12307A","ME3","chr11:86267633","c.429C>T(E3)","p.143,L>L","rs17211115",0.28,0.51,0.53,0.49,0.47,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ME3",1,130,"同义",13203,"0.46=30/65",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"]
["12307A(99)v11319",67,67,1,{"$nulls":3},"A有","12307A","MEI1","chr22:42139078","IVS11-6A>G","剪切位点","rs5751148",0.84,0.93,0.92,0.93,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MEI1",1,140,"剪切位点",16202,"1.00=110/110",null,150365,"22q13.2","NM_152513.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25581",51,27,0.53,{"$nulls":3},"A有","12307A","MEP1A","chr6:46803102","c.1900A>G(E13)","p.634,M>V","rs2297019",0.34,0.27,0.27,0.28,0.26,0.33,"杂合","无关","有rs号，MAF>=5%",19262505,{"$nulls":3},5,null,3,0,"MEP1A",1,160,"错义",12220,"0.54=42/78",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"]
["12307A(99)v30443",4,4,1,{"$nulls":3},"A有","12307A","METRNL","chr17:81052423","m.1164G>A(E4)","非编码区","rs8269",0.55,0.36,0.37,0.34,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"METRNL",0.84,19,"非编码区",14200,"1.00=7/7",null,284207,"17q25.3","NM_001004431.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26354",58,58,1,{"$nulls":3},"A有","12307A","METTL2A","chr17:60503921","c.464T>C(E3)","p.155,L>P","rs2319055",0.92,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"METTL2A",1,280,"错义",12220,"1.00=68/68",null,339175,"17q23.2","NM_181725.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20614",16,10,0.62,{"$nulls":3},"A有","12307A","MFRP","chr11:119217311","m.73G>A(E1)","非编码区","rs883245",0.58,0.76,0.78,0.75,0.67,null,"杂合","无关","有rs号，MAF>=5%",null,"孤立型小眼畸形5型/小眼畸形伴色素性视网膜炎、近视和视盘玻璃膜疣","AR",611040,5,3,5,2,"MFRP",0.98,45,"非编码区",14200,"0.65=15/23",null,83552,"11q23","NM_031433.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16376",194,92,0.47,{"$nulls":3},"A有","12307A","MFSD8","chr4:128842761","c.1268G>A(E12)","p.423,A>V","rs3733319",0.12,0.27,0.27,0.27,0.27,0.26,"杂合","无关","有rs号，MAF>=5%",null,"中心锥受累及的黄斑营养不良","AR",616170,5,3,1,2,"MFSD8",1,340,"错义",12220,"0.47=169/358",null,256471,"4q28.2","NM_152778.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19442",81,35,0.43,{"$nulls":3},"A有","12307A","MIA3","chr1:222802803","c.2241T>G(E4)","p.747,P>P","rs3748626",0.51,0.61,0.57,0.64,0.58,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MIA3",0.98,190,"同义",13203,"0.45=56/125",null,375056,"1q41","NM_198551.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15264",11,3,0.27,{"$nulls":3},"A有","12307A","MIF","chr22:24237221","IVS2-6C>G","剪切位点","rs2070766",0.17,0.22,0.24,0.19,0.18,0.29,"杂合","无关","有rs号，MAF>=5%",null,"全身型青少年类风湿性关节炎",null,604302,5,2,1,1,"MIF",0.86,6.1,"剪切位点",16201,"0.25=5/20",null,4282,"22q11.23","NM_002415.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17899",53,53,1,{"$nulls":3},"A有","12307A","MKKS","chr20:10394046","c.117G>A(E3)","p.39,P>P","rs16991547",0.24,0.25,0.26,0.23,0.2,0.24,"纯合","无关","有rs号，MAF>=5%",12107442,"Bardet-biedl综合征6型","AR",605231,5,1,4,2,"MKKS",1,160,"同义",13203,"1.00=89/89",null,8195,"20p12","NM_018848.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13745",49,27,0.55,{"$nulls":3},"A有","12307A","MKRN2","chr3:12616513","IVS5+8C>T","非编码区","rs79652487",1.4E-3,0.0072,0.0048,0.0097,null,0.0097,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"MKRN2",1,99,"非编码区",16103,"0.57=46/81",null,23609,"3p25","NM_014160.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24962",481,197,0.41,{"$nulls":3},"A有","12307A","MLL3","chr7:151927026","c.2958T>C(E18)","p.986,P>P","rs28439884",{"$nulls":4},0.48,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"MLL3",1,210,"同义",13303,"0.43=372/870",null,58508,"7q36.1","NM_170606.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17855",87,87,1,{"$nulls":3},"A有","12307A","MMP1","chr11:102666316","c.450T>C(E5)","p.150,A>A","rs470558",0.93,0.89,0.88,0.9,0.85,0.89,"纯合","无关","有rs号，MAF>=5%","19318431;19435861","慢性阻塞性肺疾病",null,606963,5,1,4,2,"MMP1",1,290,"同义",13203,"1.00=145/145",null,4312,"11q22.3","NM_001145938.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27371",34,13,0.38,{"$nulls":3},"A有","12307A","MMP19","chr12:56230848","c.1499G>A(E9)","p.500,S>L","rs138005116",0.0012,0.0072,0.0095,0.0049,0.01,0.0085,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"MMP19",1,99,"错义",12120,"0.37=18/49",null,4327,"12q14","NM_002429.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4158",14,7,0.5,{"$nulls":3},"A有","12307A","MMRN2","chr10:88696381","m.3096A>G(E7)","非编码区","rs4447076",0.22,0.2,0.22,0.18,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MMRN2",1,35,"非编码区",14200,"0.50=8/16",null,79812,"10q23.2","NM_024756.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17642",190,190,1,{"$nulls":3},"A有","12307A","MORC1","chr3:108754238","c.1408A>T(E15)","p.470,F>I","rs4855576",0.89,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MORC1",1,300,"错义",12220,"0.99=349/353",null,27136,"3q13","NM_014429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7820",132,36,0.27,{"$nulls":3},"A有","12307A","MPG","chr16:129266-129267","m.293(E2)至m.294(E2):插入T","非编码区","rs3176380",0.14,0.11,0.09,0.13,0.012,0.17,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"MPG",0.97,36,"非编码区",2420,"0.26=40/151",null,4350,"16p13.3","NM_002434.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21339",41,40,0.98,{"$nulls":3},"A有","12307A","MPP2","chr17:41955158","m.1981A>G(E13)","非编码区","rs231521",0.91,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MPP2",0.98,46,"非编码区",14200,"0.99=76/77",null,4355,"17q12-q21","NM_005374.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1892",91,38,0.42,{"$nulls":3},"A有","12307A","MRO","chr18:48333203","c.117C>G(E3)","p.39,R>S","rs4940019",0.46,0.48,0.5,0.46,0.44,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MRO",1,200,"错义",12210,"0.41=66/161",null,83876,"18q21","NM_001127174.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6809",77,34,0.44,{"$nulls":3},"A有","12307A","MRPL40","chr22:19420778","IVS1-10T>A","剪切位点","rs3747064",0.02,0.043,0.057,0.029,0.028,0.066,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,2,0,"MRPL40",1,230,"剪切位点",16101,"0.45=62/137",null,64976,"22q11.2","NM_003776.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12808",24,13,0.54,{"$nulls":3},"A有","12307A","MRPL54","chr19:3767265","c.291C>T(E3)","p.97,F>F","rs7239",0.61,0.8,0.78,0.83,0.79,0.81,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MRPL54",1,93,"同义",13203,"0.55=18/33",null,116541,"19p13.3","NM_172251.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4326",27,27,1,{"$nulls":3},"A有","12307A","MRVI1","chr11:10650329","c.594C>T(E5)","p.198,R>R","rs2278125",0.58,0.74,0.76,0.72,0.68,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MRVI1",0.98,110,"同义",13203,"1.00=44/44",null,10335,"11p15","NM_001098579.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25322",22,9,0.41,{"$nulls":3},"A有","12307A","MSR1","chr8:15967438","m.1710C>T(E10)","非编码区","rs12675467",0.13,0.15,0.14,0.15,null,null,"杂合","无关","有rs号，MAF>=5%",null,"前列腺癌","AD",176807,5,1,6,2,"MSR1",1,270,"非编码区",14200,"0.38=9/24",null,4481,"8p22","NM_138715.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5733",20,6,0.3,{"$nulls":3},"A有","12307A","MST1","chr3:49726028","IVS1+3T>C","剪切位点","rs62262685",{"$nulls":4},0.4,0.47,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"MST1",1,42,"剪切位点",16302,"0.35=13/37",null,4485,"3p21","NM_020998.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4900",61,31,0.51,{"$nulls":3},"A有","12307A","MTF1","chr1:38289383","c.1170T>C(E8)","p.390,T>T","rs12751325",0.21,0.28,0.28,0.29,0.28,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MTF1",1,130,"剪切位点",13201,"0.52=56/107",null,4520,"1p33","NM_005955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8953",209,96,0.46,{"$nulls":3},"A有","12307A","MTR","chr1:237060850","IVS32-8T>C","剪切位点","rs12022937",0.22,0.25,0.25,0.25,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",null,"高同型半胱氨酸血症cblG type （III型）","AR",250940,5,3,5,2,"MTR",1,230,"剪切位点",16202,"0.43=168/394",null,4548,"1q43","NM_000254.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30471",2,2,1,{"$nulls":3},"A有","12307A","MTRF1L","chr6:153310904","m.1237G>T(E6)","非编码区","rs111229801",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,8,0,"MTRF1L",0.99,190,"非编码区",14300,"1.00=2/2",null,54516,"6q25-q26","NM_001114184.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28782",167,63,0.38,{"$nulls":3},"A有","12307A","MUC12","chr7:100638828","c.4984C>T(E2)","p.1662,P>S","rs56914801",0.14,0.17,0.19,0.15,0.18,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,37,0,"MUC12",1,440,"错义",12220,"0.37=99/267",null,10071,"7q22","NM_001164462.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20442",93,53,0.57,{"$nulls":3},"A有","12307A","MUC16","chr19:9058942","c.28504C>T(E3)","p.9502,A>T","rs1833778",0.44,0.55,0.53,0.57,0.59,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,63,0,"MUC16",1,140,"错义",12220,"0.57=87/153",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"]
["12307A(99)v20406",29,14,0.48,{"$nulls":3},"A有","12307A","MUC16","chr19:9086318","c.5497G>A(E1)","p.1833,L>F","rs4520945",0.19,0.3,0.3,0.3,0.32,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,63,0,"MUC16",1,140,"错义",12220,"0.49=24/49",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"]
["12307A(99)v2601",140,70,0.5,{"$nulls":3},"A有","12307A","MUC17","chr7:100681762","c.7065A>G(E3)","p.2355,T>T","rs10953316",0.72,0.83,0.81,0.84,0.8,0.81,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"MUC17",1,270,"同义",13203,"0.52=125/241",null,140453,"7q22.1","NM_001040105.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15229",42,42,1,{"$nulls":3},"A有","12307A","MUC21","chr6:30954245","c.293T>C(E2)","p.98,V>A","rs1634730",0.71,0.63,0.63,0.64,0.65,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"MUC21",0.87,56,"错义",12220,"1.00=78/78",null,394263,"6p21.32","NM_001010909.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5664",49,20,0.41,{"$nulls":3},"A有","12307A","MUC4","chr3:195507107","c.11344C>T(E2)","p.3782,A>T","rs201895754",{"$nulls":4},0.44,0.49,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,94,0,"MUC4",0.99,86,"错义",12320,"0.39=32/82",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5639",46,23,0.5,{"$nulls":3},"A有","12307A","MUC4","chr3:195508215","c.10236A>G(E2)","p.3412,T>T","rs558318316",0.024,0.043,0.014,0.073,null,0.0045,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,94,0,"MUC4",0.99,86,"同义",13103,"0.48=40/84",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5657",72,15,0.21,{"$nulls":3},"A有","12307A","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,94,0,"MUC4",0.99,86,"同义",13303,"0.25=30/118",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24984",39,39,1,{"$nulls":3},"A有","12307A","MUC5B","chr11:1264823","c.6713T>C(E31)","p.2238,L>P","rs4963031",0.8,0.98,0.98,0.98,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,5,1,27,1,"MUC5B",0.99,70,"错义",12220,"1.00=66/66",null,727897,"11p15.5","NM_002458.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26177",567,328,0.58,{"$nulls":3},"A有","12307A","MUC6","chr11:1017783","c.5018A>G(E31)","p.1673,L>P","rs36101709",0.29,0.28,0.28,0.28,0.5,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MUC6",0.98,210,"错义",12220,"0.57=557/983",null,4588,"11p15.5","NM_005961.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22774",45,20,0.44,{"$nulls":3},"A有","12307A","MXD3","chr5:176733116","m.2047A>G(E6)","非编码区","rs4631",0.77,0.47,0.5,0.45,0.49,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MXD3",0.94,31,"非编码区",14200,"0.48=37/77",null,83463,"5q35.3","NM_001142935.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16559",151,72,0.48,{"$nulls":3},"A有","12307A","MYBPC1","chr12:102045163","c.1443C>G(E14)","p.481,H>Q","rs3817552",0.17,0.29,0.28,0.3,0.26,0.29,"杂合","无关","有rs号，MAF>=5%",null,"先天致死性挛缩综合征4型","AR",614915,5,3,6,2,"MYBPC1",0.97,250,"错义",12210,"0.48=131/274",null,4604,"12q23.2","NM_001254718.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12682",152,152,1,{"$nulls":3},"A有","12307A","MYEF2","chr15:48460927","c.271C>T(E2)","p.91,A>T","rs8023906",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MYEF2",1,350,"错义",12230,"1.00=292/292",null,50804,"15q21.1","NM_016132.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30044",63,30,0.48,{"$nulls":3},"A有","12307A","MYH15","chr3:108158574","IVS25+10C>T","非编码区","rs3996040",0.6,0.16,0.16,0.17,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MYH15",1,200,"非编码区",16203,"0.45=46/102",null,22989,"3q13.13","NM_014981.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15576",30,30,1,{"$nulls":3},"A有","12307A","MYH7B","chr20:33578899","c.2284T>C(E24)","p.762,L>L","rs2425009",0.79,0.77,0.74,0.8,0.77,0.76,"纯合","无关","有rs号，MAF>=5%",20403199,{"$nulls":3},5,null,6,0,"MYH7B",0.96,39,"同义",13203,"1.00=47/47",null,57644,"20q11.22","NM_020884.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28259",26,25,0.96,{"$nulls":3},"A有","12307A","MYH9","chr22:36708084","IVS14+10C>T","非编码区","rs2413396",0.76,0.92,0.91,0.92,0.9,0.89,"纯合","无关","有rs号，MAF>=5%",null,"巨血小板减少症和渐进神经性耳聋","AD",600208,5,1,6,6,"MYH9",1,58,"非编码区",16203,"0.95=41/43",null,4627,"22q13.1","NM_002473.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20806",77,77,1,{"$nulls":3},"A有","12307A","MYO10","chr5:16673975","c.4988C>G(E36)","p.1663,S>T","rs25901",0.82,0.77,0.78,0.76,0.76,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MYO10",1,160,"错义",12220,"1.00=125/125",null,4651,"5p15.1-p14.3","NM_012334.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21440",26,26,1,{"$nulls":3},"A有","12307A","MYO18A","chr17:27441077","c.2550C>G(E15)","p.850,P>P","rs12601535",0.69,0.89,0.9,0.88,0.84,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MYO18A",1,47,"同义",13203,"1.00=43/43",null,399687,"17q11.2","NM_078471.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31193",49,49,1,{"$nulls":3},"A有","12307A","MYO1G","chr7:45004063","c.2582T>C(E19)","p.861,Q>R","rs7792760",0.9,0.92,0.9,0.93,0.92,0.91,"纯合","无关","有rs号，MAF>=5%",14740320,{"$nulls":3},5,null,4,0,"MYO1G",0.9,49,"错义",12220,"1.00=79/79",null,64005,"7p13-p11.2","NM_033054.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21804",52,26,0.5,{"$nulls":3},"A有","12307A","MYO7B","chr2:128321770","c.61G>A(E3)","p.21,G>S","rs2404991",0.4,0.53,0.58,0.49,0.53,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MYO7B",1,58,"错义",12220,"0.49=43/88",null,4648,"2q21.1","NM_001080527.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v102",29,29,1,{"$nulls":3},"A有","12307A","MYO9B","chr19:17312992","c.4716C>T(E28)","p.1572,V>V","rs2305765",0.6,0.77,0.8,0.74,0.68,0.78,"纯合","无关","有rs号，MAF>=5%","17176439;19142207","易感型乳糜泻4",null,609753,5,1,8,1,"MYO9B",0.99,63,"同义",13203,"1.00=47/47",null,4650,"19p13.1","NM_001130065.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15536",31,31,1,{"$nulls":3},"A有","12307A","MYOM3","chr1:24416059","c.1583T>C(E14)","p.528,D>G","rs4393101",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"MYOM3",0.99,86,"错义",12220,"1.00=49/49",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"]
["12307A(99)v5379",229,229,1,{"$nulls":3},"A有","12307A","N6AMT1","chr21:30250555","c.497T>C(E5)","p.166,K>R","rs2205446",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"N6AMT1",1,310,"错义",12230,"1.00=407/407",null,29104,"21q21.3","NM_013240.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19095",15,15,1,{"$nulls":3},"A有","12307A","NADK","chr1:1696659","IVS2+8A>G","非编码区","rs5021859",0.74,0.82,0.82,0.83,null,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NADK",0.75,36,"非编码区",16203,"1.00=25/25",null,65220,"1p36.33","NM_001198993.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15019",141,140,0.99,{"$nulls":3},"A有","12307A","NAF1","chr4:164048199","c.1102G>C(E8)","p.368,L>V","rs4691895",0.8,0.78,0.78,0.79,0.77,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NAF1",0.92,210,"错义",12220,"1.00=261/262",null,92345,"4q32.2","NM_001128931.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15875",4,4,1,{"$nulls":3},"A有","12307A","NARG2","chr15:60715643","m.3214C>T(E16)","非编码区","rs3068",0.63,0.92,0.92,0.92,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NARG2",1,240,"非编码区",14200,"1.00=7/7",null,79664,"15q22.2","NM_001018089.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9464",47,47,1,{"$nulls":3},"A有","12307A","NAV2","chr11:20124914","c.6339A>C(E33)","p.2113,G>G","rs2243411",0.92,0.94,0.96,0.93,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"NAV2",1,110,"同义",13203,"1.00=78/78",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"]
["12307A(99)v2360",133,73,0.55,{"$nulls":3},"A有","12307A","NBEA","chr13:36229873","c.1665C>T(E14)","p.555,D>D","rs2274550",0.12,0.14,0.18,0.097,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NBEA",1,260,"同义",13203,"0.57=125/219",null,26960,"13q13","NM_001204197.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22450",409,156,0.38,{"$nulls":3},"A有","12307A","NBPF10","chr1:145368473","c.10451G>C(E84)","p.3484,R>P","rs1043749",{"$nulls":5},1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,18,0,"NBPF10",1,230,"错义",12320,"0.38=270/715",null,100132406,"1q21.1","NM_001039703.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11951",7,4,0.57,{"$nulls":3},"A有","12307A","NBPF7","chr1:120387376","m.404A>G(E1)","非编码区","rs2153676",0.78,0.49,0.46,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NBPF7",1,190,"非编码区",14200,"0.55=6/11",null,343505,"1p12","NM_001047980.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16649",140,122,0.87,{"$nulls":3},"A有","12307A","NCAM1","chr11:112832307-112832308","m.339(E1)至m.340(E1):插入A","非编码区","rs11381910",1,1,1,1,0.11,1,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"NCAM1",1,140,"非编码区",2420,"0.88=144/164",null,4684,"11q23.1","NM_000615.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18773",73,30,0.41,{"$nulls":3},"A有","12307A","NCOA1","chr2:24929851","c.1512A>T(E11)","p.504,P>P","rs3731628",0.11,0.096,0.09,0.1,0.13,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NCOA1",1,190,"同义",13203,"0.38=45/120",null,8648,"2p23","NM_003743.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2374",130,59,0.45,{"$nulls":3},"A有","12307A","NDRG1","chr8:134260174","IVS11-5G>A","剪切位点","rs2227262",0.1,0.12,0.11,0.12,0.11,0.1,"杂合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症4D型","AR",601455,5,3,2,1,"NDRG1",1,120,"剪切位点",16202,"0.45=115/255",null,10397,"8q24.3","NM_001135242.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11000",32,17,0.53,{"$nulls":3},"A有","12307A","NDUFA7","chr19:8376431","c.300G>A(E4)","p.100,P>P","rs561",0.14,0.2,0.23,0.16,0.16,null,"杂合","无关","有rs号，MAF>=5%","16436204;17601350;19046748",{"$nulls":3},5,null,1,0,"NDUFA7",0.85,43,"同义",13203,"0.55=28/51",null,4701,"19p13.2","NM_005001.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21868",110,110,1,{"$nulls":3},"A有","12307A","NEB","chr2:152387592","c.21546G>A(E145)","p.7182,N>N","rs149510427",0.019,0.065,0.038,0.092,0.1,0.073,"纯合","未知","预测范围之外的同义突变",null,"2型杆状体肌病","AR",256030,4,1,17,1,"NEB",1,300,"同义",13103,"1.00=180/180",null,4703,"2q22","NM_001164507.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4554",96,95,0.99,{"$nulls":3},"A有","12307A","NEFM","chr8:24774683","c.187C>A(E3)","p.63,P>T","rs196864",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NEFM",0.97,90,"错义",12220,"0.98=157/160",null,4741,"8p21","NM_001105541.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3835",169,81,0.48,{"$nulls":3},"A有","12307A","NEK2","chr1:211840498","c.1061T>C(E7)","p.354,N>S","rs2230489",0.17,0.22,0.23,0.22,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",null,"色素性视网膜炎67型","AR",615565,5,3,4,1,"NEK2",0.96,180,"错义",12220,"0.47=152/320",null,4751,"1q32.2-q41","NM_001204182.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23378",25,15,0.6,{"$nulls":3},"A有","12307A","NES","chr1:156639837","c.4143C>T(E4)","p.1381,G>G",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"NES",0.92,47,"同义",13403,"0.62=28/45",null,10763,"1q23.1","NM_006617.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19545",25,19,0.76,{"$nulls":3},"A有","12307A","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",612132,5,1,2,1,"NFKBIA",1,88,"非编码区",14200,"0.79=22/28",null,4792,"14q13","NM_020529.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4076",79,40,0.51,{"$nulls":3},"A有","12307A","NID1","chr1:236141174","c.3737T>C(E20)","p.1246,Q>R","rs3213190",0.34,0.61,0.62,0.6,0.53,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"NID1",1,110,"错义",12220,"0.51=66/129",null,4811,"1q43","NM_002508.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10934",70,70,1,{"$nulls":3},"A有","12307A","NID2","chr14:52496407","c.2259C>T(E10)","p.753,E>E","rs2273431",0.87,0.97,0.97,0.98,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",16400609,{"$nulls":3},5,null,9,0,"NID2",1,110,"剪切位点",13202,"1.00=105/105",null,22795,"14q22.1","NM_007361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11490",12,3,0.25,{"$nulls":3},"A有","12307A","NKX2-6","chr8:23563908","c.204A>G(E1)","p.68,D>D","rs61732911",0.17,0.23,0.19,0.26,0.18,0.2,"杂合","无关","有rs号，MAF>=5%",null,"心脏圆锥动脉干畸形","AR",217095,5,3,1,1,"NKX2-6",0.52,5.1,"同义",13203,"0.17=3/18",null,137814,"8p21.2","NM_001136271.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3454",15,15,1,{"$nulls":3},"A有","12307A","NLRP12","chr19:54308554","c.243C>T(E3)","p.81,Q>Q","rs4806773",0.81,0.73,0.78,0.68,0.65,0.75,"纯合","无关","有rs号，MAF>=5%",null,"家族性冷因性自体发炎综合症2型","AD",611762,5,1,6,1,"NLRP12",1,65,"同义",13203,"1.00=21/21",null,91662,"19q13.42","NM_033297.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26777",114,58,0.51,{"$nulls":3},"A有","12307A","NLRP4","chr19:56373462","c.2123G>A(E5)","p.708,R>H","rs12462372",0.11,0.25,0.21,0.29,0.19,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"NLRP4",1,120,"错义",12220,"0.53=115/218",null,147945,"19q13.43","NM_134444.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8636",112,111,0.99,{"$nulls":3},"A有","12307A","NLRP5","chr19:56572832","c.3541G>A(E15)","p.1181,V>I","rs10409555",0.36,0.42,0.42,0.42,0.42,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"NLRP5",1,130,"错义",12220,"0.99=192/194",null,126206,"19q13.43","NM_153447.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3162",38,16,0.42,{"$nulls":3},"A有","12307A","NMUR2","chr5:151772055","c.945G>T(E4)","p.315,F>L","rs1895245",0.12,0.043,0.029,0.058,0.035,0.03,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NMUR2",1,120,"错义",12210,"0.45=25/56",null,56923,"5q33.1","NM_020167.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14610",57,30,0.53,{"$nulls":3},"A有","12307A","NOL6","chr9:33464076","c.2863G>A(E22)","p.955,R>C","rs141680920",{"$nulls":5},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"NOL6",1,81,"错义",12310,"0.53=51/96",null,65083,"9p13.3","NM_022917.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22311",44,23,0.52,{"$nulls":3},"A有","12307A","NOP56","chr20:2635212","c.361A>G(E4)","p.121,I>V","rs2273137",0.12,0.22,0.19,0.25,0.22,0.24,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑性共济失调36型","AD",614153,5,1,5,1,"NOP56",1,110,"错义",12220,"0.52=33/64",null,10528,"20p13","NM_006392.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23728",32,32,1,{"$nulls":3},"A有","12307A","NOTCH1","chr9:139407932","c.2265A>G(E14)","p.755,N>N","rs2229971",0.53,0.79,0.77,0.82,0.79,0.8,"纯合","无关","有rs号，MAF>=5%",null,"主动脉瓣疾病1型","AD",109730,5,1,5,2,"NOTCH1",0.79,8.2,"同义",13203,"1.00=54/54",null,4851,"9q34.3","NM_017617.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7734",10,10,1,{"$nulls":3},"A有","12307A","NOTCH3","chr19:15302844","c.606T>C(E4)","p.202,A>A","rs1043994",0.86,0.87,0.89,0.84,0.78,0.87,"纯合","无关","有rs号，MAF>=5%","16426270;22006983;22373597","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",125310,5,1,5,2,"NOTCH3",0.85,17,"同义",13203,"1.00=13/13",null,4854,"19p13.2-p13.1","NM_000435.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25837",11,6,0.55,{"$nulls":3},"A有","12307A","NPAS2","chr2:101609827","c.2130C>T(E20)","p.710,T>T","rs9223",0.25,0.21,0.21,0.21,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NPAS2",1,140,"同义",13203,"0.62=10/16",null,4862,"2q11.2","NM_002518.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13086",13,7,0.54,{"$nulls":3},"A有","12307A","NPRL3","chr16:188331","m.367G>A(E1)","非编码区","rs146357256",0.03,0.067,0.048,0.087,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"NPRL3",1,55,"非编码区",14100,"0.44=8/18",null,8131,"16p13.3","NM_001039476.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27986",48,17,0.35,{"$nulls":3},"A有","12307A","NR1H3","chr11:47282024","c.297C>T(E4)","p.99,S>S","rs2279238",0.35,0.65,0.7,0.59,0.64,0.67,"杂合","无关","有rs号，MAF>=5%","17108812;19292929;21042792;21562465;22311022;24100084;24180251;24788534",{"$nulls":3},5,null,2,0,"NR1H3",1,66,"同义",13203,"0.33=22/67",null,10062,"11p11.2","NM_001130101.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17329",133,71,0.53,{"$nulls":3},"A有","12307A","NRAP","chr10:115392919","c.1556T>A(E16)","p.519,N>I","rs2270182",0.26,0.2,0.22,0.18,0.2,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"NRAP",1,180,"错义",12210,"0.59=136/231",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"]
["12307A(99)v3897",17,17,1,{"$nulls":3},"A有","12307A","NRXN2","chr11:64415767","c.3327G>A(E17)","p.1109,G>G","rs3825074",0.11,0.18,0.16,0.19,0.2,0.18,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NRXN2",0.83,39,"同义",13203,"0.97=35/36",null,9379,"11q13","NM_015080.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25046",27,17,0.63,{"$nulls":3},"A有","12307A","NSD1","chr5:176721198","c.6829T>C(E23)","p.2277,L>L","rs28580074",0.77,0.46,0.49,0.43,0.44,0.49,"杂合","无关","有rs号，MAF>=5%",18001468,"Sotos综合征1型",null,117550,5,2,5,3,"NSD1",1,160,"同义",13203,"0.66=29/44",null,64324,"5q35","NM_022455.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27200",179,89,0.5,{"$nulls":3},"A有","12307A","NSUN7","chr4:40778162","c.922T>G(E7)","p.308,S>A","rs2437323",0.73,0.52,0.53,0.51,0.48,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NSUN7",1,260,"错义",12220,"0.50=153/306",null,79730,"4p14","NM_024677.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10908",28,15,0.54,{"$nulls":3},"A有","12307A","NTF3","chr12:5603632","c.291G>A(E2)","p.97,P>P","rs6332",0.49,0.47,0.44,0.5,0.42,0.47,"杂合","无关","有rs号，MAF>=5%","18428117;20576502;23471121;23872233",{"$nulls":3},5,null,1,0,"NTF3",1,82,"同义",13203,"0.56=23/41",null,4908,"12p13","NM_001102654.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28516",35,35,1,{"$nulls":3},"A有","12307A","NUDT18","chr8:21964802","m.1102C>T(E3)","非编码区","rs1552286",0.92,0.99,0.99,0.99,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NUDT18",0.83,25,"非编码区",14200,"1.00=61/61",null,79873,"8p21.3","NM_024815.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21978",64,30,0.47,{"$nulls":3},"A有","12307A","NUP210","chr3:13364876","c.4701G>T(E34)","p.1567,T>T","rs514084",0.56,0.68,0.73,0.64,0.66,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"NUP210",0.97,71,"同义",13203,"0.49=52/106",null,23225,"3p25.1","NM_024923.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4314",140,140,1,{"$nulls":3},"A有","12307A","NUP93","chr16:56868700","IVS14+10A>G","非编码区","rs1347591",0.54,0.69,0.64,0.74,0.74,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NUP93",1,170,"非编码区",16203,"1.00=243/243",null,9688,"16q13","NM_001242795.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29328",11,4,0.36,{"$nulls":3},"A有","12307A","NXF1","chr11:62567636","m.1365C>T(E10)","非编码区","rs631310",0.2,0.14,0.17,0.12,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NXF1",1,150,"非编码区",14200,"0.36=4/11",null,10482,"11q12-q13","NM_001081491.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29253",12,12,1,{"$nulls":3},"A有","12307A","OBSCN","chr1:228461129","c.6143A>G(E21)","p.2048,H>R","rs1188724",0.69,0.71,0.74,0.67,null,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,42,0,"OBSCN",0.96,27,"错义",12220,"1.00=20/20",null,84033,"1q42.13","NM_001271223.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29271",29,13,0.45,{"$nulls":3},"A有","12307A","OBSCN","chr1:228482010","c.11289C>T(E42)","p.3763,D>D","rs449133",0.38,0.19,0.2,0.17,0.18,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,42,0,"OBSCN",0.96,27,"同义",13203,"0.46=19/41",null,84033,"1q42.13","NM_001098623.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23742",190,189,0.99,{"$nulls":3},"A有","12307A","OCA2","chr15:28090173","c.2364C>T(E23)","p.788,S>S","rs12592307",0.28,0.56,0.57,0.56,0.53,0.57,"纯合","无关","有rs号，MAF>=5%","17236130;17999355","眼皮肤白化病2型","AR",203200,5,1,5,2,"OCA2",0.99,150,"同义",13203,"0.99=377/379",null,4948,"15q","NM_000275.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12279",12,12,1,{"$nulls":3},"A有","12307A","ODF3","chr11:197557","IVS2-4A>G","剪切位点","rs7103852",0.84,0.99,1,0.99,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ODF3",1,53,"剪切位点",16202,"1.00=14/14",null,113746,"11p15.5","NM_053280.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4518",9,9,1,{"$nulls":3},"A有","12307A","OPN4","chr10:88422116","c.1214C>T(E9)","p.405,T>I","rs1079610",0.75,0.78,0.8,0.76,0.64,0.82,"纯合","无关","有rs号，MAF>=5%","16385451;18804284;19470168;20180986",{"$nulls":3},5,null,5,0,"OPN4",1,55,"错义",12210,"1.00=13/13",null,94233,"10q22","NM_001030015.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14812",75,75,1,{"$nulls":3},"A有","12307A","OPRM1","chr6:154414573","c.1333C>T(E4)","p.445,L>L","rs562859",0.75,0.89,0.89,0.89,0.88,0.89,"纯合","无关","有rs号，MAF>=5%","15558714;20194481",{"$nulls":3},5,null,5,0,"OPRM1",1,160,"同义",13203,"1.00=112/112",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"]
["12307A(99)v3366",151,47,0.31,{"$nulls":3},"A有","12307A","OR10G4","chr11:123886583","c.302A>G(E1)","p.101,Y>C","rs4474449",{"$nulls":4},0.14,0.13,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,12,0,"OR10G4",1,190,"错义",12310,"0.27=65/237",null,390264,"11q24.1","NM_001004462.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10170",93,51,0.55,{"$nulls":3},"A有","12307A","OR10Z1","chr1:158577109","c.881A>C(E1)","p.294,N>T","rs857685",0.24,0.46,0.5,0.41,0.48,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR10Z1",1,110,"错义",12210,"0.53=81/153",null,128368,"1q23.1","NM_001004478.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13150",62,23,0.37,{"$nulls":3},"A有","12307A","OR11H6","chr14:20692574","c.706T>C(E1)","p.236,Y>H","rs17277221",0.39,0.21,0.22,0.2,0.18,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR11H6",1,110,"错义",12210,"0.38=35/91",null,122748,"14q11.2","NM_001004480.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9249",101,47,0.47,{"$nulls":3},"A有","12307A","OR13H1","chrX:130678467","c.420A>G(E1)","p.140,V>V","rs499030",null,0.68,0.65,0.7,0.68,0.65,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"OR13H1",1,170,"同义",13303,"0.49=71/146",null,347468,"Xq26.2","NM_001004486.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8858",72,72,1,{"$nulls":3},"A有","12307A","OR1I1","chr19:15198764","c.888T>C(E1)","p.296,D>D","rs12975625",0.9,0.8,0.8,0.81,0.75,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"OR1I1",1,130,"同义",13203,"1.00=125/125",null,126370,"19p13.12","NM_001004713.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7449",80,80,1,{"$nulls":3},"A有","12307A","OR1S1","chr11:57982763","c.547A>G(E1)","p.183,N>D","rs1993088",{"$nulls":4},0.67,0.79,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"OR1S1",1,210,"错义",12320,"1.00=121/121",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"]
["12307A(99)v2810",69,69,1,{"$nulls":3},"A有","12307A","OR2A25","chr7:143771536","c.224G>A(E1)","p.75,S>N","rs6951485",0.64,0.67,0.69,0.65,0.69,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR2A25",1,160,"错义",12220,"1.00=102/102",null,392138,"7q35","NM_001004488.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14140",37,20,0.54,{"$nulls":3},"A有","12307A","OR2J3","chr6:29080004","c.337A>G(E1)","p.113,T>A","rs28757581",0.19,0.12,0.081,0.16,0.067,0.11,"杂合","无关","有rs号，MAF>=5%",22714804,"C3HEX，嗅觉","AD",615082,5,1,4,1,"OR2J3",1,30,"错义",12210,"0.54=31/57",null,442186,"6p22.1","NM_001005216.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5810",66,33,0.5,{"$nulls":3},"A有","12307A","OR2T11","chr1:248790167","c.263A>G(E1)","p.88,I>T","rs34397542",0.08,0.2,0.17,0.23,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR2T11",1,73,"错义",12220,"0.54=51/95",null,127077,"1q44","NM_001001964.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13031",76,32,0.42,{"$nulls":3},"A有","12307A","OR2T27","chr1:248813723","c.463C>T(E1)","p.155,D>N","rs138825902",0.14,0.24,0.19,0.3,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"OR2T27",1,150,"错义",12210,"0.38=48/126",null,403239,"1q44","NM_001001824.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14685",171,78,0.46,{"$nulls":3},"A有","12307A","OR2T8","chr1:248085108","c.789C>T(E1)","p.263,H>H","rs4625315",{"$nulls":4},0.41,0.45,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,11,0,"OR2T8",1,250,"同义",13303,"0.47=136/289",null,343172,"1q44","NM_001005522.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18649",77,32,0.42,{"$nulls":3},"A有","12307A","OR4D6","chr11:59224608","c.175A>G(E1)","p.59,M>V","rs1453544",0.13,0.12,0.14,0.11,0.13,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR4D6",1,170,"错义",12210,"0.42=46/109",null,219983,"11q12.1","NM_001004708.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22726",158,158,1,{"$nulls":3},"A有","12307A","OR4K17","chr14:20586432","c.867C>T(E1)","p.289,Y>Y","rs9323534",0.47,0.6,0.64,0.57,0.64,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR4K17",1,210,"同义",13203,"1.00=270/270",null,390436,"14q11.2","NM_001004715.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11469",65,65,1,{"$nulls":3},"A有","12307A","OR4Q3","chr14:20216298","c.712T>C(E1)","p.238,F>L","rs12896533",0.71,0.76,0.75,0.77,0.78,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR4Q3",1,140,"错义",12220,"1.00=97/97",null,441669,"14q11.2","NM_172194.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4343",64,27,0.42,{"$nulls":3},"A有","12307A","OR51Q1","chr11:5444353","c.923T>C(E1)","p.308,F>S","rs2647573",0.45,0.73,0.75,0.7,0.67,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"OR51Q1",1,130,"错义",12220,"0.41=46/113",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"]
["12307A(99)v8614",115,115,1,{"$nulls":3},"A有","12307A","OR52D1","chr11:5510497","c.561T>C(E1)","p.187,I>I","rs2467219",0.95,0.92,0.94,0.89,0.9,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"OR52D1",1,160,"同义",13203,"0.99=190/191",null,390066,"11p15.4","NM_001005163.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12101",58,58,1,{"$nulls":3},"A有","12307A","OR52H1","chr11:5566030","c.724A>G(E1)","p.242,C>R","rs1995158",0.89,0.92,0.89,0.94,0.9,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR52H1",1,94,"错义",12220,"1.00=101/101",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"]
["12307A(99)v31704",135,133,0.99,{"$nulls":3},"A有","12307A","OR5D13","chr11:55541098","c.185G>A(E1)","p.62,C>Y","rs297118",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR5D13",1,150,"错义",12220,"0.99=224/226",null,390142,"11q11","NM_001001967.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11263",40,40,1,{"$nulls":3},"A有","12307A","OR5P2","chr11:7817852","c.638C>G(E1)","p.213,C>S","rs76615008",0.24,0.15,0.16,0.14,0.085,0.13,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"OR5P2",1,80,"错义",12220,"1.00=60/60",null,120065,"11p15.4","NM_153444.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27020",202,200,0.99,{"$nulls":3},"A有","12307A","OR6C68","chr12:55886294","c.133G>A(E1)","p.45,A>T","rs7133698",0.62,0.83,0.87,0.79,0.83,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR6C68",1,190,"错义",12220,"0.98=363/370",null,403284,"12q13.2","NM_001005519.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10829",71,35,0.49,{"$nulls":3},"A有","12307A","OR6T1","chr11:123814356","c.190G>A(E1)","p.64,R>W","rs6590021",0.07,0.17,0.16,0.17,0.15,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"OR6T1",1,95,"错义",12210,"0.48=50/105",null,219874,"11q24.1","NM_001005187.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12220",156,58,0.37,{"$nulls":3},"A有","12307A","OR8B2","chr11:124253147","c.93A>G(E1)","p.31,F>F","rs530704",{"$nulls":4},0.22,0.24,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"OR8B2",1,230,"同义",13303,"0.34=96/281",null,26595,"11q24.1","NM_001005468.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24721",35,12,0.34,{"$nulls":3},"A有","12307A","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",1,130,"错义",12310,"0.34=17/50",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"]
["12307A(99)v403",92,43,0.47,{"$nulls":3},"A有","12307A","OR9G1","chr11:56468368","c.505C>T(E1)","p.169,R>C","rs11228733",0.0008,0,0,0,0.44,0.48,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,18,0,"OR9G1",1,210,"错义",12120,"0.47=70/149",null,390174,"11q12.1","NM_001005213.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25274",71,43,0.61,{"$nulls":3},"A有","12307A","ORMDL1","chr2:190636411","m.654C>G(E4)","非编码区","rs6942",0.58,0.71,0.68,0.74,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ORMDL1",1,300,"非编码区",14200,"0.59=58/98",null,94101,"2q32","NM_001128150.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30942",125,124,0.99,{"$nulls":3},"A有","12307A","OSCP1","chr1:36888462","c.656A>G(E6)","p.219,I>T","rs1416840",0.14,0.31,0.28,0.33,0.32,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OSCP1",1,220,"错义",12220,"0.99=247/250",null,127700,"1p34.3","NM_145047.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15920",23,10,0.43,{"$nulls":3},"A有","12307A","OTOP2","chr17:72927123","c.1393G>T(E6)","p.465,G>W","rs6501741",0.54,0.56,0.51,0.61,0.52,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OTOP2",1,42,"错义",12210,"0.46=19/41",null,92736,"17q25.1","NM_178160.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5515",3,3,1,{"$nulls":3},"A有","12307A","OVOL2","chr20:18005113","m.1238C>T(E4)","非编码区","rs1976",0.77,0.8,0.8,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OVOL2",0.87,26,"非编码区",14200,"1.00=3/3",null,58495,"20pter-q11.23","NM_021220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15132",52,52,1,{"$nulls":3},"A有","12307A","P2RX4","chr12:121660787","c.513T>C(E6)","p.171,S>S","rs25643",0.44,0.35,0.31,0.39,0.31,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"P2RX4",0.89,100,"同义",13203,"0.99=107/108",null,5025,"12q24.32","NM_001256796.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24423",123,56,0.46,{"$nulls":3},"A有","12307A","P4HA3","chr11:73988167","c.1198C>T(E9)","p.400,D>N","rs2282488",0.18,0.31,0.3,0.32,0.35,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"P4HA3",0.88,140,"错义",12210,"0.47=99/210",null,283208,"11q13.4","NM_182904.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7369",255,125,0.49,{"$nulls":3},"A有","12307A","PAGE5","chrX:55249049","IVS3-5T>C","剪切位点","rs2148982",null,0.64,0.61,0.66,null,0.6,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,3,0,"PAGE5",1,490,"剪切位点",16301,"0.51=218/429",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"]
["12307A(99)v16821",9,9,1,{"$nulls":3},"A有","12307A","PALM2-AKAP2","chr9:112899361","c.1537A>C(E8)","p.513,K>Q","rs4978872",0.93,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PALM2-AKAP2",1,120,"错义",12220,"1.00=10/10",null,445815,"9q31.3","NM_007203.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1668",73,39,0.53,{"$nulls":3},"A有","12307A","PARK2","chr6:162622197","c.500C>T(E4)","p.167,S>N","rs1801474",0.12,0.37,0.37,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%","10319889;12975291","肺癌","AR",211980,5,3,1,4,"PARK2",1,140,"错义",12220,"0.53=69/130",null,5071,"6q25.2-q27","NM_004562.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17427",76,76,1,{"$nulls":3},"A有","12307A","PARP4","chr13:25008630","c.4649A>G(E31)","p.1550,L>P","rs1822135",0.94,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,24,0,"PARP4",1,220,"错义",12220,"1.00=144/144",null,143,"13q11","NM_006437.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21476",156,156,1,{"$nulls":3},"A有","12307A","PASD1","chrX:150789950","IVS5-4C>T","剪切位点","rs945815",null,0.99,0.99,0.99,null,0.97,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"PASD1",1,220,"剪切位点",16302,"1.00=302/303",null,139135,"Xq28","NM_173493.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21647",24,12,0.5,{"$nulls":3},"A有","12307A","PBOV1","chr6:138539556","m.72T>C(E1)","非编码区","rs11758517",0.16,0.38,0.34,0.42,null,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PBOV1",1,170,"非编码区",14200,"0.59=24/41",null,59351,"6q23.3","NM_021635.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30538",60,29,0.48,{"$nulls":3},"A有","12307A","PCDH10","chr4:134074058","m.3589A>G(E1)","非编码区","rs3749589",0.49,0.36,0.33,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PCDH10",0.98,79,"非编码区",14200,"0.48=47/98",null,57575,"4q28.3","NM_020815.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22177",7,2,0.29,{"$nulls":3},"A有","12307A","PCDHA10","chr5:140237109","c.1476T>G(E1)","p.492,S>S","rs251363",0.61,0.42,0.36,0.49,0.39,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PCDHA10",1,95,"同义",13203,"0.22=2/9",null,56139,"5q31","NM_018901.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24138",78,39,0.5,{"$nulls":3},"A有","12307A","PCDHAC1","chr5:140307284","c.807G>A(E1)","p.269,Q>Q","rs155361",0.57,0.65,0.7,0.59,0.64,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PCDHAC1",1,100,"同义",13203,"0.45=64/143",null,56135,"5q31","NM_018898.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6599",78,41,0.53,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"PCDHB10",0.89,120,"同义",13203,"0.52=61/118",null,56126,"5q31","NM_018930.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30908",212,151,0.71,{"$nulls":3},"A有","12307A","PCDHB3","chr5:140482483","c.2250G>A(E1)","p.750,Q>Q","rs31848",0.77,0.89,0.9,0.87,0.64,0.89,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PCDHB3",1,110,"同义",13203,"0.65=241/370",null,56132,"5q31","NM_018937.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7756",6,6,1,{"$nulls":3},"A有","12307A","PCDHGA6","chr5:140755495","c.1845A>G(E1)","p.615,G>G","rs3749773",0.071,0.038,0.043,0.034,0.038,0.042,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PCDHGA6",1,88,"同义",13203,"1.00=8/8",null,56109,"5q31","NM_018919.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21512",51,24,0.47,{"$nulls":3},"A有","12307A","PCGF2","chr17:36896534","IVS3+10C>T","非编码区","rs2075057",0.19,0.12,0.13,0.12,null,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PCGF2",1,69,"非编码区",16203,"0.45=46/103",null,7703,"17q12","NM_007144.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20941",66,34,0.52,{"$nulls":3},"A有","12307A","PCLO","chr7:82581859","c.8410C>T(E5)","p.2804,A>T","rs976714",0.32,0.44,0.42,0.46,0.52,0.5,"杂合","无关","有rs号，MAF>=5%",18647954,{"$nulls":3},5,null,8,0,"PCLO",1,140,"错义",12220,"0.50=52/104",null,27445,"7q11.23-q21.3","NM_014510.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19692",4,3,0.75,{"$nulls":3},"A有","12307A","PCOLCE2","chr3:142607767","m.279C>T(E1)","非编码区","rs35783198",0.11,0.16,0.14,0.18,null,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PCOLCE2",1,270,"非编码区",14200,"0.75=3/4",null,26577,"3q21-q24","NM_013363.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3421",130,130,1,{"$nulls":3},"A有","12307A","PDCD1LG2","chr9:5557672","c.686T>C(E5)","p.229,F>S","rs7854303",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PDCD1LG2",1,190,"错义",12220,"1.00=218/218",null,80380,"9p24.2","NM_025239.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14769",13,13,1,{"$nulls":3},"A有","12307A","PDE11A","chr2:178494012","m.1744C>G(E17)","非编码区","rs6734683",0.66,0.88,0.88,0.87,null,null,"纯合","无关","有rs号，MAF>=5%",null,"原发性色素性结节状肾上腺皮质病2型","AD",610475,5,1,4,1,"PDE11A",1,210,"非编码区",14200,"1.00=16/16",null,50940,"2q31.2","NM_001077196.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19048",96,45,0.47,{"$nulls":3},"A有","12307A","PDE4DIP","chr1:144854528","c.6624A>G(E44)","p.2208,I>I","rs78461771",{"$nulls":4},0.46,0.47,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,64,0,"PDE4DIP",1,250,"同义",13303,"0.48=72/149",null,9659,"1q12","NM_001198832.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19056",131,59,0.45,{"$nulls":3},"A有","12307A","PDE4DIP","chr1:144916748","c.2096C>G(E9)","p.699,S>T","rs1747930",{"$nulls":4},0.49,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,64,0,"PDE4DIP",1,250,"错义",12320,"0.49=109/224",null,9659,"1q12","NM_001002811.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27663",35,17,0.49,{"$nulls":3},"A有","12307A","PDE6A","chr5:149323906","c.331T>G(E1)","p.111,R>R","rs2277925",0.28,0.26,0.24,0.29,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性43型-AR",null,613810,5,2,3,1,"PDE6A",1,170,"同义",13203,"0.48=26/54",null,5145,"5q31.2-q34","NM_000440.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1095",80,32,0.4,{"$nulls":3},"A有","12307A","PDGFRB","chr5:149499672","c.2601T>C(E19)","p.867,L>L","rs246395",0.24,0.15,0.16,0.13,0.14,0.14,"杂合","无关","有rs号，MAF>=5%",null,"婴儿肌纤维瘤病1型","AD",228550,5,1,4,2,"PDGFRB",1,81,"同义",13203,"0.42=56/134",null,5159,"5q33.1","NM_002609.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15193",48,48,1,{"$nulls":3},"A有","12307A","PDLIM3","chr4:186423637","c.762G>A(E7)","p.254,V>V","rs4635850",0.66,0.78,0.78,0.79,0.76,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PDLIM3",1,140,"剪切位点",13202,"1.00=83/83",null,27295,"4q35","NM_001114107.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8599",10,2,0.2,{"$nulls":3},"A有","12307A","PDZRN3","chr3:73433369","c.2348G>A(E10)","p.783,A>V","rs3205537",0.27,0.44,0.45,0.42,0.42,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PDZRN3",0.83,68,"错义",12220,"0.24=4/17",null,23024,"3p13","NM_015009.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11795",23,5,0.22,{"$nulls":3},"A有","12307A","PEAR1","chr1:156883493","c.2654G>A(E21)","p.885,R>H","rs11264581",0.23,0.48,0.5,0.47,0.41,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PEAR1",0.98,45,"错义",12220,"0.24=10/41",null,375033,"1q23.1","NM_001080471.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21631",85,35,0.41,{"$nulls":3},"A有","12307A","PER3","chr1:7890053","c.3019G>A(E18)","p.1007,A>T","rs1776342",{"$nulls":4},0.23,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"PER3",0.98,160,"错义",12320,"0.42=64/152",null,8863,"1p36.23","NM_016831.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7806",95,43,0.45,{"$nulls":3},"A有","12307A","PGD","chr1:10479678","IVS12-9G>A","剪切位点","rs1889309",0.25,0.31,0.36,0.26,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PGD",1,160,"剪切位点",16202,"0.43=68/158",null,5226,"1p36.22","NM_002631.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9817",78,42,0.54,{"$nulls":3},"A有","12307A","PGLYRP4","chr1:153314153","c.575C>A(E6)","p.192,G>V","rs3006448",0.84,0.88,0.88,0.89,0.84,0.87,"杂合","无关","有rs号，MAF>=5%",24838182,{"$nulls":3},5,null,3,0,"PGLYRP4",1,160,"错义",12220,"0.56=80/144",null,57115,"1q21","NM_020393.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17231",26,26,1,{"$nulls":3},"A有","12307A","PHGDH","chr1:120254545","m.127G>C(E1)","非编码区","rs562038",0.82,0.92,0.92,0.91,0.89,null,"纯合","无关","有rs号，MAF>=5%",null,"Neu-Laxova综合征","AR",256520,5,1,3,2,"PHGDH",1,70,"非编码区",14200,"1.00=38/38",null,26227,"1p12","NM_006623.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6571",68,66,0.97,{"$nulls":3},"A有","12307A","PHYHIPL","chr10:61007534","m.3360A>G(E5)","非编码区","rs1459996",0.74,0.9,0.9,0.9,null,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PHYHIPL",1,230,"非编码区",14200,"0.98=108/110",null,84457,"10q11","NM_001143774.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24933",102,102,1,{"$nulls":3},"A有","12307A","PIEZO2","chr18:10758023","c.3792G>A(E25)","p.1264,N>N","rs7407105",0.82,0.93,0.91,0.94,0.9,0.93,"纯合","无关","有rs号，MAF>=5%",null,"远端关节弯曲3型","AD",114300,5,1,7,3,"PIEZO2",1,200,"同义",13203,"1.00=178/178",null,63895,"18p11.22","NM_022068.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18562",25,8,0.32,{"$nulls":3},"A有","12307A","PIF1","chr15:65108479","m.2010T>C(E13)","非编码区","rs8036568",0.27,0.76,0.77,0.76,0.72,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PIF1",0.71,33,"非编码区",14200,"0.33=13/40",null,80119,"15q22.31","NM_025049.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20962",161,161,1,{"$nulls":3},"A有","12307A","PIK3C2A","chr11:17172133","c.1239T>C(E3)","p.413,A>A","rs2302511",0.85,0.61,0.59,0.63,0.62,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PIK3C2A",1,310,"同义",13203,"1.00=325/325",null,5286,"11p15.5-p14","NM_002645.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6057",77,37,0.48,{"$nulls":3},"A有","12307A","PIK3R4","chr3:130449248","c.1489G>A(E5)","p.497,L>L","rs1719073",0.021,0.079,0.09,0.068,0.07,0.075,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"PIK3R4",1,220,"同义",13103,"0.48=59/124",null,30849,"3q22.1","NM_014602.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8079",15,14,0.93,{"$nulls":3},"A有","12307A","PINK1","chr1:20977221","m.1877A>T(E8)","非编码区","rs686658",0.83,0.84,0.85,0.83,0.82,0.81,"纯合","无关","有rs号，MAF>=5%",null,"帕金森病6型,AR遗传早发型","AR",605909,5,1,3,1,"PINK1",0.78,56,"非编码区",14200,"0.95=21/22",null,65018,"1p36","NM_032409.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5006",21,21,1,{"$nulls":3},"A有","12307A","PKD1L2","chr16:81173136","c.5599T>C(E32)","p.1867,M>V","rs12918619",0.95,0.93,0.94,0.91,0.84,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,36,0,"PKD1L2",0.99,96,"错义",12220,"1.00=43/43",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"]
["12307A(99)v4980",21,10,0.48,{"$nulls":3},"A有","12307A","PKD1L2","chr16:81248745","c.518A>G(E3)","p.173,L>S","rs8060294",0.39,0.44,0.46,0.42,0.36,0.42,"杂合","无关","有rs号，MAF>=5%","19729612;19844255",{"$nulls":3},5,null,36,0,"PKD1L2",0.99,96,"错义",12220,"0.52=16/31",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"]
["12307A(99)v7928",172,172,1,{"$nulls":3},"A有","12307A","PKD2L2","chr5:137244517","c.1144G>A(E8)","p.382,V>I","rs1880458",0.79,0.97,0.96,0.98,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PKD2L2",0.97,260,"错义",12220,"1.00=339/340",null,27039,"5q31","NM_001258448.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18838",110,56,0.51,{"$nulls":3},"A有","12307A","PKHD1L1","chr8:110413824","IVS14+7C>T","非编码区","rs2061294",0.61,0.43,0.45,0.41,null,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,19,0,"PKHD1L1",1,290,"非编码区",16203,"0.51=93/184",null,93035,"8q23","NM_177531.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12585",28,28,1,{"$nulls":3},"A有","12307A","PLA2G4E","chr15:42287578","c.1227G>A(E12)","p.409,T>T","rs1668586",0.66,0.56,0.55,0.57,0.54,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PLA2G4E",0.92,80,"同义",13203,"1.00=56/56",null,123745,"15q15.1","NM_001206670.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27798",80,80,1,{"$nulls":3},"A有","12307A","PLCB2","chr15:40581543","c.3284T>C(E31)","p.1095,E>G","rs936212",0.15,0.62,0.56,0.68,0.68,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PLCB2",0.96,66,"错义",12220,"0.99=150/152",null,5330,"15q15","NM_004573.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8069",96,95,0.99,{"$nulls":3},"A有","12307A","PLCE1","chr10:96039597","c.3800G>C(E19)","p.1267,R>P","rs2274224",0.49,0.53,0.55,0.51,0.5,0.55,"纯合","无关","有rs号，MAF>=5%","16385451;23688607;25133033","肾病综合征3型","AR",610725,5,1,4,1,"PLCE1",1,200,"错义",12220,"0.99=182/183",null,51196,"10q23","NM_001165979.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27428",7,7,1,{"$nulls":3},"A有","12307A","PLEKHA6","chr1:204230581","IVS6-5G>A","剪切位点","rs3795569",0.6,0.77,0.8,0.75,null,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PLEKHA6",0.99,45,"剪切位点",16202,"1.00=10/10",null,22874,"1q32.1","NM_014935.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2622",7,4,0.57,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,8,0,"PLEKHH1",1,87,"剪切位点",16202,"0.55=6/11",null,57475,"14q24.1","NM_020715.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9358",6,6,1,{"$nulls":3},"A有","12307A","PLIN3","chr19:4847874","c.663A>G(E6)","p.221,F>F","rs9304915",0.87,0.91,0.9,0.92,0.79,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PLIN3",1,28,"同义",13203,"1.00=11/11",null,10226,"19p13.3","NM_001164189.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20220",45,45,1,{"$nulls":3},"A有","12307A","PLIN4","chr19:4511955","c.1975T>C(E3)","p.659,S>G","rs7260518",0.88,0.93,0.95,0.91,0.93,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,24,0,"PLIN4",0.98,69,"错义",12220,"1.00=71/71",null,729359,"19p13.3","NM_001080400.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17982",28,27,0.96,{"$nulls":3},"A有","12307A","PLXNA4","chr7:131815118","m.6034C>T(E32)","非编码区","rs10954359",0.53,0.84,0.8,0.87,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PLXNA4",1,93,"非编码区",14200,"0.97=32/33",null,91584,"7q32.3","NM_020911.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26004",241,90,0.37,{"$nulls":3},"A有","12307A","PM20D1","chr1:205817018","c.251T>C(E2)","p.84,H>R","rs11540015",0.16,0.41,0.39,0.44,0.36,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PM20D1",1,140,"错义",12220,"0.36=152/428",null,148811,"1q32.1","NM_152491.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22535",42,42,1,{"$nulls":3},"A有","12307A","PMP2","chr8:82355518","m.612A>G(E4)","非编码区","rs6990882",0.35,0.72,0.76,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PMP2",1,370,"非编码区",14200,"1.00=59/59",null,5375,"8q21.3-q22.1","NM_002677.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30531",51,22,0.43,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"PNMAL1",1,47,"同义",13203,"0.38=33/86",null,55228,"19q13.32","NM_001103149.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4775",233,106,0.45,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"POC5",1,230,"错义",12220,"0.47=202/433",null,134359,"5q13.3","NM_001099271.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5787",57,34,0.6,{"$nulls":3},"A有","12307A","POLQ","chr3:121208176","c.3602T>C(E16)","p.1201,H>R","rs3218651",0.29,0.56,0.51,0.6,0.57,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"POLQ",1,200,"错义",12220,"0.58=47/81",null,10721,"3q13.33","NM_199420.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17190",51,27,0.53,{"$nulls":3},"A有","12307A","POLR1A","chr2:86315741","c.678C>T(E6)","p.226,T>T","rs2288120",0.66,0.69,0.68,0.71,0.72,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"POLR1A",1,140,"同义",13203,"0.58=60/104",null,25885,"2p11.2","NM_015425.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1059",32,19,0.59,{"$nulls":3},"A有","12307A","POLRMT","chr19:625198","c.879A>G(E4)","p.293,T>T","rs1056766",{"$nulls":4},0.56,0.59,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"POLRMT",0.78,14,"同义",13303,"0.59=33/56",null,5442,"19p13.3","NM_005035.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31262",10,10,1,{"$nulls":3},"A有","12307A","POMT2","chr14:77743644","m.2529G>A(E21)","非编码区","rs1055592",0.27,0.44,0.48,0.41,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肌营养不良-抗肌萎缩相关糖蛋白病（先天性伴有智力低下）B型2","AR",613156,5,1,5,3,"POMT2",0.96,130,"非编码区",14200,"1.00=13/13",null,29954,"14q24","NM_013382.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31261",2,2,1,{"$nulls":3},"A有","12307A","POMT2","chr14:77786863","c.162C>A(E1)","p.54,A>A","rs2270420",0.083,0.26,0.3,0.23,0.17,0.39,"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",613158,5,1,5,3,"POMT2",0.96,130,"同义",13203,"1.00=4/4",null,29954,"14q24","NM_013382.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v243",282,280,0.99,{"$nulls":3},"A有","12307A","POTED","chr21:15013735","c.1603A>G(E11)","p.535,M>V","rs78643169",{"$nulls":4},0.79,null,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"POTED",1,650,"错义",12320,"0.99=521/524",null,317754,"21q11.2","NM_174981.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23854",43,43,1,{"$nulls":3},"A有","12307A","POU5F1B","chr8:128429262","m.1406G>C(E1)","非编码区","rs9297754",0.73,0.81,0.81,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"POU5F1B",0.94,48,"非编码区",14200,"1.00=64/64",null,5462,"8q24.21","NM_001159542.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4545",100,99,0.99,{"$nulls":3},"A有","12307A","PPAP2C","chr19:282753","c.539G>A(E4)","p.180,A>V","rs1138439",0.36,0.13,0.14,0.12,0.11,0.12,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PPAP2C",0.88,43,"错义",12210,"0.99=171/172",null,8612,"19p13","NM_003712.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9108",41,40,0.98,{"$nulls":3},"A有","12307A","PPL","chr16:4933939","c.4717G>C(E22)","p.1573,Q>E","rs2037912",0.4,0.66,0.61,0.72,0.61,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PPL",0.97,36,"错义",12220,"0.97=62/64",null,5493,"16p13.3","NM_002705.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23884",9,6,0.67,{"$nulls":3},"A有","12307A","PPP1R27","chr17:79791597","m.570A>G(E3)","非编码区","rs35031019",0.26,0.31,0.3,0.31,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PPP1R27",1,29,"非编码区",14200,"0.69=11/16",null,116729,"17q25.3","NM_001007533.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26604",28,26,0.93,{"$nulls":3},"A有","12307A","PPP1R9B","chr17:48212648-48212648","m.2501(E10):缺失A","非编码区","rs11317638",1,1,1,1,0.13,1,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"PPP1R9B",0.65,26,"非编码区",2420,"0.94=29/31",null,84687,"17q21.33","NM_032595.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17895",61,30,0.49,{"$nulls":3},"A有","12307A","PQLC3","chr2:11312181","IVS5+10G>A","非编码区","rs12987956",0.33,0.42,0.43,0.4,null,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PQLC3",1,160,"非编码区",16203,"0.45=37/83",null,130814,"2p25.1","NM_152391.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18876",86,38,0.44,{"$nulls":3},"A有","12307A","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",1,170,"错义",12320,"0.39=51/131",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"]
["12307A(99)v13237",57,36,0.63,{"$nulls":3},"A有","12307A","PRB2","chr12:11546192","c.820G>A(E3)","p.274,P>S","rs10845349",0.31,0.38,0.4,0.37,0.31,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PRB2",1,120,"错义",12220,"0.62=58/94",null,653247,"12p13.2","NM_006248.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v340",68,14,0.21,{"$nulls":3},"A有","12307A","PRDM2","chr1:14106394-14106395","c.1501(E3)至c.1502(E3):插入CTC","插入非移码","rs148293494",{"$nulls":4},0.079,0.6,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"PRDM2",1,120,"插入非移码",2232,"0.23=16/71",null,7799,"1p36.21","NM_001007257.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1238",57,27,0.47,{"$nulls":3},"A有","12307A","PREX2","chr8:69104619","c.4463C>T(E37)","p.1488,S>L","rs61753704",0.061,0.13,0.13,0.14,0.16,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PREX2",1,270,"错义",12210,"0.45=46/102",null,80243,"8q13.2","NM_024870.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4911",105,29,0.28,{"$nulls":3},"A有","12307A","PRH1","chr12:11034980","c.355G>A(E4)","p.119,R>C","rs61914782",{"$nulls":4},0.21,0.2,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"PRH1",1,180,"错义",12320,"0.26=46/175",null,5554,"12p13.2","NM_006250.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14837",13,8,0.62,{"$nulls":3},"A有","12307A","PRKAR1B","chr7:590007","m.1315C>A(E11)","非编码区","rs78339681",0.036,0.12,0.12,0.13,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"PRKAR1B",1,64,"非编码区",14100,"0.62=16/26",null,5575,"7p22","NM_001164758.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6582",2,2,1,{"$nulls":3},"A有","12307A","PRODH","chr22:18900669","m.1611A>G(E14)","非编码区","rs383964",null,0.96,0.97,0.96,null,0.95,"纯合","未知","UTR突变可能影响蛋白翻译",null,"精神分裂症4型（易感）","AD",600850,3,1,8,2,"PRODH",0.85,34,"非编码区",14300,"1.00=3/3",null,5625,"22q11.21","NM_001195226.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7948",35,21,0.6,{"$nulls":3},"A有","12307A","PRODH2","chr19:36290977","c.1574C>T(E11)","p.525,R>Q","rs3761097",0.06,0.15,0.17,0.14,0.12,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRODH2",1,52,"错义",12210,"0.59=36/61",null,58510,"19q13.1","NM_021232.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30884",144,79,0.55,{"$nulls":3},"A有","12307A","PRPF38A","chr1:52882406","m.1186A>G(E10)","非编码区","rs6677047",0.38,0.27,0.3,0.24,null,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRPF38A",1,220,"非编码区",14200,"0.55=157/288",null,84950,"1p32.3","NM_032864.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29511",46,25,0.54,{"$nulls":3},"A有","12307A","PRRC1","chr5:126887569","c.1299G>A(E9)","p.433,A>A","rs7522",0.39,0.58,0.63,0.53,0.54,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PRRC1",1,250,"同义",13203,"0.52=37/71",null,133619,"5q23.2","NM_130809.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23871",181,65,0.36,{"$nulls":3},"A有","12307A","PRSS1","chr7:142460313","c.486T>C(E4)","p.162,D>D","rs6666",0.4,0.25,0.24,0.27,0.18,0.2,"杂合","无关","有rs号，MAF>=5%",null,"遗传性胰腺炎","AD",167800,5,1,3,2,"PRSS1",1,240,"同义",13203,"0.32=115/365",null,5644,"7q34","NM_002769.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12156",128,128,1,{"$nulls":3},"A有","12307A","PRTG","chr15:55970041","c.1335A>G(E8)","p.445,N>N","rs11854213",0.24,0.4,0.4,0.41,0.45,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PRTG",1,220,"同义",13203,"0.99=221/223",null,283659,"15q21.3","NM_173814.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18750",15,4,0.27,{"$nulls":3},"A有","12307A","PRX","chr19:40901604","c.2655A>G(E7)","p.885,P>P","rs268672",0.53,0.25,0.23,0.27,0.2,0.19,"杂合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症4F型，脱髓鞘型","AR",614895,5,3,3,2,"PRX",0.94,19,"同义",13203,"0.22=4/18",null,57716,"19q13.2","NM_181882.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18747",16,6,0.38,{"$nulls":3},"A有","12307A","PRX","chr19:40901614","c.2645A>G(E7)","p.882,V>A","rs268671",0.53,0.25,0.23,0.27,0.21,0.19,"杂合","无关","有rs号，MAF>=5%",19664744,"遗传性运动感觉性神经病III型","AD,AR",145900,5,1,3,2,"PRX",0.94,19,"错义",12220,"0.37=7/19",null,57716,"19q13.2","NM_181882.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29094",173,173,1,{"$nulls":3},"A有","12307A","PSG5","chr19:43679410","c.921A>G(E4)","p.307,A>A","rs1058467",0.77,0.99,0.99,0.99,0.98,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PSG5",1,350,"同义",13203,"1.00=300/301",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"]
["12307A(99)v18336",22,9,0.41,{"$nulls":3},"A有","12307A","PSMB7","chr9:127177736","m.17G>C(E1)","非编码区","rs2236386",0.36,0.28,0.29,0.28,null,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PSMB7",1,200,"非编码区",14200,"0.47=17/36",null,5695,"9q34.11-q34.12","NM_002799.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26696",75,75,1,{"$nulls":3},"A有","12307A","PSMD4","chr1:151239051","c.951T>C(E9)","p.317,S>S","rs7489",0.64,0.6,0.57,0.64,0.64,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PSMD4",1,140,"同义",13203,"1.00=151/151",null,5710,"1q21.3","NM_002810.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31744",13,6,0.46,{"$nulls":3},"A有","12307A","PTCH2","chr1:45292866","c.2487G>A(E16)","p.829,D>D","rs2295996",0.15,0.2,0.2,0.21,0.25,0.22,"杂合","无关","有rs号，MAF>=5%",null,"基底细胞癌（易感）1型",null,605462,5,2,2,3,"PTCH2",1,36,"同义",13203,"0.48=11/23",null,8643,"1p34.1","NM_001166292.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1012",79,79,1,{"$nulls":3},"A有","12307A","PTGES3L-AARSD1","chr17:41116234","c.582G>A(E7)","p.194,S>S","rs690941",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PTGES3L-AARSD1",1,160,"同义",13203,"1.00=117/117",null,100885850,"17q","NM_001136042.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6029",2,2,1,{"$nulls":3},"A有","12307A","PTMA","chr2:232573292","m.58T>C(E1)","非编码区","rs12415",0.12,0.19,0.2,0.17,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PTMA",1,92,"非编码区",14200,"1.00=2/2",null,5757,"2q37.1","NM_001099285.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20138",44,44,1,{"$nulls":3},"A有","12307A","PTPRE","chr10:129869175","IVS15+10C>T","非编码区","rs59495679",0.027,0.11,0.11,0.1,null,0.12,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,2,0,"PTPRE",1,150,"非编码区",16103,"1.00=84/84",null,5791,"10q26","NM_006504.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6210",16,16,1,{"$nulls":3},"A有","12307A","PTPRN2","chr7:157959911","c.622A>G(E6)","p.208,S>P","rs1130495",0.87,0.92,0.91,0.93,0.87,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PTPRN2",0.98,59,"错义",12220,"1.00=31/31",null,5799,"7q36","NM_002847.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29961",19,19,1,{"$nulls":3},"A有","12307A","PTPRS","chr19:5214697","c.4369A>G(E29)","p.1457,C>R","rs4807697",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PTPRS",0.93,47,"错义",12220,"1.00=34/34",null,5802,"19p13.3","NM_002850.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v653",51,19,0.37,{"$nulls":3},"A有","12307A","PWP2","chr21:45538647","c.984T>C(E9)","p.328,I>I","rs756553",0.6,0.74,0.7,0.78,0.73,0.72,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PWP2",0.99,77,"同义",13203,"0.36=26/72",null,5822,"21q22.3","NM_005049.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23941",110,56,0.51,{"$nulls":3},"A有","12307A","PYROXD2","chr10:100147060","c.1452A>G(E14)","p.484,F>F","rs4345897",0.52,0.58,0.54,0.62,0.55,0.54,"杂合","无关","有rs号，MAF>=5%",23281178,{"$nulls":3},5,null,2,0,"PYROXD2",1,78,"同义",13203,"0.47=85/181",null,84795,"10q24.2","NM_032709.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24312",71,70,0.99,{"$nulls":3},"A有","12307A","QDPR","chr4:17503433","c.345C>T(E4)","p.115,S>S","rs3733570",0.15,0.47,0.42,0.52,0.43,0.44,"纯合","无关","有rs号，MAF>=5%",16251468,"四氢生物蝶呤缺乏性高苯丙氨酸血症C型","AR",261630,5,1,4,1,"QDPR",1,170,"同义",13203,"0.99=127/128",null,5860,"4p15.31","NM_000320.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26749",69,37,0.54,{"$nulls":3},"A有","12307A","RAB11FIP1","chr8:37730368","c.1952G>A(E4)","p.651,A>V","rs12541651",0.6,0.71,0.66,0.76,0.76,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RAB11FIP1",0.98,73,"错义",12220,"0.50=51/102",null,80223,"8p11.22","NM_001002814.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30798",10,7,0.7,{"$nulls":3},"A有","12307A","RAB6C","chr2:130737578","m.344G>A(E1)","非编码区","rs4233601",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"RAB6C",1,490,"非编码区",14300,"0.70=7/10",null,84084,"2q21.1","NM_032144.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16186",24,10,0.42,{"$nulls":3},"A有","12307A","RABGGTA","chr14:24736961","c.1258T>C(E13)","p.420,T>A","rs729421",0.6,0.64,0.66,0.62,0.55,0.6,"杂合","无关","有rs号，MAF>=5%",19052777,{"$nulls":3},5,null,2,0,"RABGGTA",1,69,"错义",12220,"0.47=16/34",null,5875,"14q11.2","NM_004581.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23265",5,4,0.8,{"$nulls":3},"A有","12307A","RADIL","chr7:4874250","c.1404G>A(E4)","p.468,R>R","rs76862906",0.083,0.13,0.14,0.13,0.11,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RADIL",0.92,12,"同义",13203,"0.89=8/9",null,55698,"7p22.1","NM_018059.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24513",97,42,0.43,{"$nulls":3},"A有","12307A","RANBP6","chr9:6015011","c.597T>C(E1)","p.199,T>T","rs343500",0.15,0.23,0.22,0.23,0.18,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RANBP6",1,120,"同义",13203,"0.45=68/152",null,26953,"9p24.1","NM_012416.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4422",39,39,1,{"$nulls":3},"A有","12307A","RAP1GAP2","chr17:2923767","IVS17-4A>G","剪切位点","rs2304982",0.88,0.85,0.86,0.83,null,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RAP1GAP2",1,94,"剪切位点",16202,"1.00=66/66",null,23108,"17p13.3","NM_001100398.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8499",113,113,1,{"$nulls":3},"A有","12307A","RASGRF1","chr15:79254480","m.4155T>A(E27)","非编码区","rs4778732",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RASGRF1",1,88,"非编码区",14200,"1.00=207/207",null,5923,"15q24.2","NM_001145648.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8137",7,7,1,{"$nulls":3},"A有","12307A","RBM15","chr1:110882444","c.417A>G(E1)","p.139,E>E","rs814771",0.82,0.76,0.79,0.73,0.69,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RBM15",1,66,"同义",13203,"1.00=9/9",null,64783,"1p13","NM_001201545.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13417",9,3,0.33,{"$nulls":3},"A有","12307A","RBM46","chr4:155749384","m.1940G>A(E5)","非编码区","rs1392544",0.26,0.45,0.44,0.46,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RBM46",1,220,"非编码区",14200,"0.33=3/9",null,166863,"4q32.1","NM_144979.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7075",49,49,1,{"$nulls":3},"A有","12307A","RBMS3","chr3:30029724","IVS12+10C>T","非编码区","rs1868491",0.24,0.35,0.34,0.36,0.38,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RBMS3",0.97,250,"非编码区",16203,"1.00=89/89",null,27303,"3p24-p23","NM_001003792.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4810",96,36,0.38,{"$nulls":3},"A有","12307A","RCC2","chr1:17739586","c.1296G>A(E9)","p.432,I>I","rs942457",0.33,0.18,0.15,0.21,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RCC2",0.82,110,"同义",13203,"0.39=67/171",null,55920,"1p36.13","NM_001136204.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25719",34,16,0.47,{"$nulls":3},"A有","12307A","RECQL5","chr17:73647138","m.1517C>T(E8)","非编码区","rs1661744",0.41,0.55,0.53,0.57,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RECQL5",0.99,67,"非编码区",14200,"0.42=18/43",null,9400,"17q25","NM_001003716.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23605",79,36,0.46,{"$nulls":3},"A有","12307A","RELN","chr7:103124207","c.10074T>C(E62)","p.3358,A>A","rs1062831",0.23,0.26,0.29,0.24,0.27,0.27,"杂合","无关","有rs号，MAF>=5%",null,"无脑回畸形2型","AR",257320,5,3,6,1,"RELN",1,230,"同义",13203,"0.46=67/147",null,5649,"7q22","NM_005045.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20823",13,4,0.31,{"$nulls":3},"A有","12307A","RET","chr10:43596179","IVS2+9G>A","非编码区","rs2435351",0.19,0.11,0.12,0.092,0.086,0.12,"杂合","无关","有rs号，MAF>=5%",null,"噬铬细胞瘤","AD",171300,5,1,9,7,"RET",0.95,67,"非编码区",16203,"0.29=6/21",null,5979,"10q11.2","NM_020630.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20829",36,20,0.56,{"$nulls":3},"A有","12307A","RET","chr10:43615633","c.2712C>G(E15)","p.904,S>S","rs1800863",0.17,0.12,0.14,0.1,0.11,0.11,"杂合","无关","有rs号，MAF>=5%","20454948;20532249;24897126;8084609","多发性内分泌肿瘤2A型","AD",171400,5,1,9,7,"RET",0.95,67,"同义",13203,"0.59=35/59",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"]
["12307A(99)v13321",61,29,0.48,{"$nulls":3},"A有","12307A","REV1","chr2:100055506","c.770A>G(E6)","p.257,F>S","rs3087386",0.58,0.37,0.38,0.36,0.4,0.36,"杂合","无关","有rs号，MAF>=5%","18191955;19390575;24012694",{"$nulls":3},5,null,3,0,"REV1",1,260,"错义",12220,"0.42=33/79",null,51455,"2q11.1-q11.2","NM_001037872.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18258",96,39,0.41,{"$nulls":3},"A有","12307A","RFPL3","chr22:32754036","m.183G>A(E1)","非编码区","rs11089557",0.14,0.44,0.45,0.44,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"RFPL3",1,210,"非编码区",14200,"0.44=77/175",null,10738,"22q12.3","NM_001098535.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23596",33,33,1,{"$nulls":3},"A有","12307A","RFX7","chr15:56387931","c.1995C>T(E9)","p.665,Q>Q","rs11071247",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RFX7",1,150,"同义",13203,"1.00=48/48",null,64864,"15q21.3","NM_022841.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4237",25,25,1,{"$nulls":3},"A有","12307A","RGS16","chr1:182569626","c.410T>C(E5)","p.137,H>R","rs1144566",null,1,1,1,0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"RGS16",1,100,"错义",12320,"1.00=44/44",null,6004,"1q25-q31","NM_002928.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28953",121,121,1,{"$nulls":3},"A有","12307A","RGS7","chr1:241519098","m.309T>A(E2)","非编码区","rs4659599",0.95,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RGS7",1,330,"非编码区",14200,"1.00=226/227",null,6000,"1q43|1q23.1","NM_002924.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31154",138,60,0.43,{"$nulls":3},"A有","12307A","RHOBTB3","chr5:95091201","c.784A>G(E6)","p.262,N>D","rs34899",0.48,0.69,0.7,0.68,0.76,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RHOBTB3",1,250,"错义",12220,"0.46=114/250",null,22836,"5q15","NM_014899.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8522",49,49,1,{"$nulls":3},"A有","12307A","RIN2","chr20:19970705","c.1965C>T(E9)","p.655,H>H","rs2076584",0.41,0.67,0.65,0.69,0.67,0.73,"纯合","无关","有rs号，MAF>=5%",null,"MACS综合征","AR",613075,5,1,1,1,"RIN2",0.96,120,"同义",13203,"1.00=68/68",null,54453,"20p11.22","NM_001242581.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15853",85,41,0.48,{"$nulls":3},"A有","12307A","RIT2","chr18:40323497","c.615G>T(E5)","p.205,L>L","rs1804730",0.59,0.69,0.72,0.67,0.71,0.72,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RIT2",1,250,"同义",13203,"0.49=62/127",null,6014,"18q12.3","NM_002930.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10614",12,6,0.5,{"$nulls":3},"A有","12307A","RNASE7","chr14:21511789","m.895G>A(E2)","非编码区","rs2282036",0.24,0.38,0.34,0.41,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RNASE7",1,150,"非编码区",14200,"0.43=6/14",null,84659,"14q11.2","NM_032572.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22040",75,75,1,{"$nulls":3},"A有","12307A","RNF213","chr17:78298938","c.3133A>G(E18)","p.1045,N>D","rs6565674",1,1,1,1,1,1,"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,607151,5,1,11,1,"RNF213",1,100,"错义",12220,"1.00=115/115",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"]
["12307A(99)v2209",67,36,0.54,{"$nulls":3},"A有","12307A","RNF31","chr14:24617238","c.246C>T(E2)","p.82,Y>Y","rs2273913",0.34,0.56,0.58,0.53,0.55,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RNF31",0.98,67,"同义",13203,"0.51=56/110",null,55072,"14q11.2","NM_017999.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21491",38,17,0.45,{"$nulls":3},"A有","12307A","RNFT2","chr12:117290601","m.2063T>C(E12)","非编码区","rs903772",0.82,0.79,0.79,0.79,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RNFT2",1,87,"非编码区",14200,"0.44=28/64",null,84900,"12q24.22","NM_001109903.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13070",31,30,0.97,{"$nulls":3},"A有","12307A","RORB","chr9:77257346","c.252G>A(E4)","p.84,R>R","rs2273975",0.095,0.1,0.076,0.13,0.12,0.11,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RORB",1,190,"同义",13203,"0.98=45/46",null,6096,"9q22","NM_006914.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1699",89,87,0.98,{"$nulls":3},"A有","12307A","RPAP1","chr15:41819716","c.1516C>T(E12)","p.506,E>K","rs1200345",0.51,0.33,0.33,0.33,0.31,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RPAP1",1,69,"错义",12210,"0.99=154/156",null,26015,"15q15.1","NM_015540.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6757",5,2,0.4,{"$nulls":3},"A有","12307A","RPL18","chr19:49122479","m.197C>T(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"RPL18",1,87,"非编码区",14400,"0.45=5/11",null,6141,"19q13","NM_000979.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18650",2,2,1,{"$nulls":3},"A有","12307A","RPL28","chr19:55901653","m.2409G>A(E5)","非编码区","rs4806669",0.96,0.91,0.92,0.89,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RPL28",1,94,"非编码区",14200,"1.00=3/3",null,6158,"19q13.4","NM_000991.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27476",2,2,1,{"$nulls":3},"A有","12307A","RPS9","chr19:54704760","IVS1+4A>C","剪切位点","rs3810232",0.29,0.43,0.41,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RPS9",1,91,"剪切位点",16201,"1.00=3/3",null,6203,"19q13.4","NM_001013.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23338",100,100,1,{"$nulls":3},"A有","12307A","RRM2B","chr8:103220351","m.1291A>G(E9)","非编码区","rs1265117",1,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",null,"线粒体DNA缺失综合征8A/B型（脑肌病合并肾小管病）","AR",612075,5,1,1,2,"RRM2B",1,220,"非编码区",14200,"1.00=160/160",null,50484,"8q23.1","NM_001172477.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5067",111,55,0.5,{"$nulls":3},"A有","12307A","RRP36","chr6:42992808","c.216T>C(E2)","p.72,N>N","rs3749904",0.34,0.2,0.2,0.2,0.26,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RRP36",0.83,130,"同义",13203,"0.48=79/163",null,88745,"6p21.1","NM_033112.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2204",5,5,1,{"$nulls":3},"A有","12307A","RTN4IP1","chr6:107077059-107077060","m.315(E1)至m.314(E1):插入A","非编码区","rs144527909",0.063,0.19,0.2,0.19,0,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,6,0,"RTN4IP1",1,220,"非编码区",2420,"1.00=6/6",null,84816,"6q21","NM_032730.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8581",7,3,0.43,{"$nulls":3},"A有","12307A","RWDD4","chr4:184562267","m.1115T>C(E8)","非编码区","rs3186086",0.048,0.12,0.11,0.14,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"RWDD4",0.96,240,"非编码区",14100,"0.33=3/9",null,201965,"4q35.1","NM_152682.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24538",8,6,0.75,{"$nulls":3},"A有","12307A","RYR1","chr19:38985104","c.6387C>T(E39)","p.2129,D>D","rs117886618",0.0032,0.022,0.014,0.029,0.0085,0.02,"杂合","未知","预测范围之外的同义突变",12434264,"恶性高热易感1","AD",145600,4,1,24,3,"RYR1",0.96,61,"同义",13103,"0.73=8/11",null,6261,"19q13.1","NM_000540.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24560",32,13,0.41,{"$nulls":3},"A有","12307A","RYR1","chr19:38995438","c.8118T>C(E51)","p.2706,I>I","rs2960340",0.42,0.35,0.4,0.31,0.29,0.34,"杂合","无关","有rs号，MAF>=5%",16917943,"多发或微小轴空病","AR",255320,5,3,24,3,"RYR1",0.96,61,"同义",13203,"0.36=20/55",null,6261,"19q13.1","NM_000540.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14633",167,166,0.99,{"$nulls":3},"A有","12307A","RYR2","chr1:237801770","c.6906T>C(E45)","p.2302,L>L","rs707189",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null,"儿茶酚胺敏感多形性室速1型","AD",604772,5,1,12,2,"RYR2",1,240,"同义",13203,"1.00=277/278",null,6262,"1q43","NM_001035.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12237",112,112,1,{"$nulls":3},"A有","12307A","S100P","chr4:6698706","c.225A>C(E2)","p.75,I>I","rs11733989",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"S100P",1,120,"同义",13203,"0.99=205/207",null,6286,"4p16","NM_005980.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8303",101,52,0.51,{"$nulls":3},"A有","12307A","SAAL1","chr11:18108492","c.963T>C(E9)","p.321,T>T","rs12363226",0.14,0.087,0.081,0.092,0.084,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SAAL1",1,270,"同义",13203,"0.47=83/176",null,113174,"11p15.1","NM_138421.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30333",267,266,1,{"$nulls":3},"A有","12307A","SAP18","chr13:21720956","c.252C>T(E3)","p.84,T>T","rs4620",0.46,0.68,0.69,0.67,0.64,0.69,"纯合","无关","有rs号，MAF>=5%",22643671,{"$nulls":3},5,null,1,0,"SAP18",1,270,"同义",13203,"0.99=480/485",null,10284,"13q12.11","NM_005870.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10412",19,9,0.47,{"$nulls":3},"A有","12307A","SBF1","chr22:50885775","c.5559A>G(E40)","p.1853,T>T","rs1053744",0.5,0.46,0.48,0.45,0.43,0.45,"杂合","无关","有rs号，MAF>=5%",24587951,"恰克-马利-杜斯氏症4B3型","AR",615284,5,3,3,1,"SBF1",0.98,20,"同义",13203,"0.41=11/27",null,6305,"22q13.33","NM_002972.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31576",134,63,0.47,{"$nulls":3},"A有","12307A","SCAF11","chr12:46322458","c.1026G>A(E11)","p.342,D>D","rs181836869",0.0002,0.0024,0.0048,0,0.0011,0.0016,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"SCAF11",1,190,"同义",13103,"0.45=97/217",null,9169,"12q12","NM_004719.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29358",236,111,0.47,{"$nulls":3},"A有","12307A","SCEL","chr13:78188078","c.1313A>G(E22)","p.438,K>R","rs8002725",0.22,0.12,0.12,0.11,0.18,0.15,"杂合","无关","有rs号，MAF>=5%",17332845,{"$nulls":3},5,null,4,0,"SCEL",1,390,"错义",12220,"0.48=213/442",null,8796,"13q22","NM_001160706.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24845",112,111,0.99,{"$nulls":3},"A有","12307A","SCN1A","chr2:166897864","c.2292A>G(E13)","p.764,V>V","rs6432860",0.79,0.88,0.9,0.87,0.88,0.9,"纯合","无关","有rs号，MAF>=5%",null,"家族性偏瘫性偏头痛3型","AD",609634,5,1,3,3,"SCN1A",1,280,"同义",13203,"0.99=198/199",null,6323,"2q24.3","NM_001165963.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15733",12,12,1,{"$nulls":3},"A有","12307A","SCN5A","chr3:38622467","c.3183T>C(E17)","p.1061,E>E","rs7430407",0.92,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"家族性房颤10型","AD",614022,5,1,2,8,"SCN5A",1,87,"同义",13203,"1.00=16/16",null,6331,"3p21","NM_000335.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19082",115,67,0.58,{"$nulls":3},"A有","12307A","SCN7A","chr2:167279922","c.2874C>A(E18)","p.958,M>I","rs6738031",0.74,0.62,0.63,0.61,0.67,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SCN7A",1,270,"错义",12220,"0.57=96/168",null,6332,"2q21-q23","NM_002976.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11605",24,10,0.42,{"$nulls":3},"A有","12307A","SCNN1G","chr16:23197545","IVS1-4C>G","剪切位点","rs5731",0.2,0.17,0.19,0.15,null,0.15,"杂合","无关","有rs号，MAF>=5%",null,"支气管扩张症伴或不伴汗氯化物升高3型","AD",613071,5,1,5,3,"SCNN1G",1,110,"剪切位点",16202,"0.47=18/38",null,6340,"16p12","NM_001039.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23238",145,68,0.47,{"$nulls":3},"A有","12307A","SCUBE2","chr11:9051475","c.1994G>C(E15)","p.665,T>S","rs3751057",0.095,0.077,0.086,0.068,0.13,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SCUBE2",0.96,140,"错义",12210,"0.47=110/232",null,57758,"11p15.3","NM_001170690.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15698",4,2,0.5,{"$nulls":3},"A有","12307A","SDCCAG3","chr9:139298653","IVS8-7G>A","剪切位点","rs12235378",0.065,0.11,0.12,0.092,null,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SDCCAG3",1,100,"剪切位点",16202,"0.67=4/6",null,10807,"9q34.3","NM_001039707.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21052",34,34,1,{"$nulls":3},"A有","12307A","SEC14L3","chr22:30857448","c.699A>G(E13)","p.233,D>D","rs5749104",0.77,0.86,0.81,0.9,0.84,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SEC14L3",1,140,"同义",13203,"1.00=58/58",null,266629,"22q12.2","NM_001257378.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28276",71,39,0.55,{"$nulls":3},"A有","12307A","SEC31B","chr10:102265183","c.1114G>A(E10)","p.372,P>S","rs2295772",0.19,0.14,0.16,0.13,0.14,0.15,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,7,0,"SEC31B",1,120,"错义",12220,"0.53=61/115",null,25956,"10q24.31","NM_015490.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9308",84,84,1,{"$nulls":3},"A有","12307A","SELP","chr1:169566313","c.1807C>T(E11)","p.603,D>N","rs6127",0.75,0.97,0.98,0.96,0.95,0.97,"纯合","无关","有rs号，MAF>=5%","16820586;19404301;22192915","IgE反应,遗传性过敏症","AD",147050,5,1,1,1,"SELP",1,180,"错义",12220,"1.00=149/149",null,6403,"1q22-q25","NM_003005.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24567",105,40,0.38,{"$nulls":3},"A有","12307A","SENP7","chr3:101177853","c.230T>A(E4)","p.77,K>I","rs184635710",0.0002,0.0024,0.0048,0,null,0.0021,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"SENP7",1,320,"错义",12110,"0.39=77/196",null,57337,"3q12","NM_001077203.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14668",50,49,0.98,{"$nulls":3},"A有","12307A","SERHL2","chr22:42970032","c.916T>C(E12)","p.306,C>R","rs137055",0.37,0.71,0.7,0.72,0.72,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SERHL2",1,160,"错义",12220,"0.98=80/82",null,253190,"22q13","NM_014509.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26669",69,34,0.49,{"$nulls":3},"A有","12307A","SERPINA9","chr14:94942635","m.36T>C(E1)","非编码区","rs78913733",0.12,0.29,0.3,0.28,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SERPINA9",1,160,"非编码区",14200,"0.52=43/83",null,327657,"14q32.13","NM_001042518.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12858",25,15,0.6,{"$nulls":3},"A有","12307A","SERPINB7","chr18:61471887","m.1253G>A(E8)","非编码区","rs1625353",0.31,0.46,0.47,0.45,0.37,0.47,"杂合","无关","有rs号，MAF>=5%",null,"Nagashima (长岛?) 型掌跖角化症","AR",615598,5,3,1,1,"SERPINB7",1,200,"非编码区",14200,"0.64=25/39",null,8710,"18q21.33","NM_001040147.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17653",9,5,0.56,{"$nulls":3},"A有","12307A","SETBP1","chr18:42531184","c.1879C>T(E4)","p.627,R>C","rs146193261",0.01,0.014,0.014,0.015,0.008,0.015,"杂合","可能相关","蛋白结构预测结果为有害",null,"常染色体显性遗传性精神发育迟滞29型","AD",616078,2,1,5,2,"SETBP1",1,88,"错义",12110,"0.64=7/11",null,26040,"18q21.1","NM_015559.2","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12307A(99)v7462",76,29,0.38,{"$nulls":3},"A有","12307A","SETX","chr9:135172412","c.5811A>G(E14)","p.1937,D>D","rs2296869",0.44,0.64,0.66,0.62,0.65,0.7,"杂合","无关","有rs号，MAF>=5%",16251468,"早发型共济失调伴动眼不能和低白蛋白血症2型","AR",606002,5,3,9,2,"SETX",1,200,"同义",13203,"0.34=41/121",null,23064,"9q34.13","NM_015046.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4228",4,4,1,{"$nulls":3},"A有","12307A","SFPQ","chr1:35649811-35649811","m.2463(E10):缺失A","非编码区","rs3835700",0.32,0.65,0.67,0.64,0.18,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"SFPQ",0.69,170,"非编码区",2420,"1.00=4/4",null,6421,"1p34.3","NM_005066.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23053",40,26,0.65,{"$nulls":3},"A有","12307A","SFTPA2","chr10:81318663","c.271C>G(E4)","p.91,A>P","rs17886395",0.22,0.3,0.29,0.31,0.28,0.3,"杂合","无关","有rs号，MAF>=5%",17407567,"特发性肺纤维化，易感","AD",178500,5,1,8,1,"SFTPA2",1,130,"错义",12220,"0.66=50/76",null,729238,"10q22.3","NM_001098668.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22139",80,80,1,{"$nulls":3},"A有","12307A","SGPP2","chr2:223423362","c.945A>G(E5)","p.315,P>P","rs4674664",0.88,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SGPP2",0.82,120,"同义",13203,"1.00=129/129",null,130367,"2q36.1","NM_152386.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18274",4,3,0.75,{"$nulls":3},"A有","12307A","SH3BP2","chr4:2831383","c.750T>G(E8)","p.250,A>A","rs231399",0.47,0.46,0.46,0.45,0.43,0.45,"杂合","无关","有rs号，MAF>=5%",null,"巨颌症","AD",118400,5,1,3,1,"SH3BP2",0.88,29,"同义",13203,"0.75=3/4",null,6452,"4p16.3","NM_001122681.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2243",140,56,0.4,{"$nulls":3},"A有","12307A","SH3TC2","chr5:148422274","c.512C>T(E5)","p.171,G>E","rs17722293",0.072,0.12,0.12,0.12,0.081,0.1,"杂合","无关","有rs号，MAF>=5%",null,"正中神经病变","AD",613353,5,1,7,2,"SH3TC2",1,100,"错义",12210,"0.40=95/235",null,79628,"5q32","NM_024577.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5273",6,5,0.83,{"$nulls":3},"A有","12307A","SHANK1","chr19:51190068","c.2391C>T(E19)","p.797,E>E","rs200409216",0.0016,0.0096,0.014,0.0049,0.017,0.011,"纯合","未知","剪切位点预测容忍或无害的同义突变",{"$nulls":4},4,null,1,0,"SHANK1",0.69,28,"剪切位点",13102,"0.91=10/11",null,50944,"19q13.3","NM_016148.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23326",41,41,1,{"$nulls":3},"A有","12307A","SHROOM2","chrX:9912792","c.4423A>G(E9)","p.1475,I>V","rs12012202",null,0.32,0.32,0.32,0.36,0.33,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"SHROOM2",0.94,39,"错义",12320,"1.00=68/68",null,357,"Xp22.3","NM_001649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17450",8,3,0.38,{"$nulls":3},"A有","12307A","SIGLEC1","chr20:3677736","c.2376T>G(E9)","p.792,V>V","rs673114",0.72,0.79,0.82,0.75,0.66,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"SIGLEC1",0.97,26,"同义",13203,"0.40=4/10",null,6614,"20p13","NM_023068.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3840",23,7,0.3,{"$nulls":3},"A有","12307A","SIGLECL1","chr19:51767205","m.260C>T(E2)","非编码区","rs6509523",null,0.53,0.56,0.5,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"SIGLECL1",1,150,"非编码区",14300,"0.26=7/27",null,284369,"19q13.41","NM_173635.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6010",300,35,0.12,{"$nulls":3},"A有","12307A","SKA3","chr13:21746601-21746601","c.208(E3):缺失G","缺失移码","rs151272242",0.14,0.23,0.24,0.23,0.004,0.23,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,4,0,"SKA3",1,390,"缺失移码",2120,"0.15=50/337",null,221150,"13q12.11","NM_001166017.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13672",73,27,0.37,{"$nulls":3},"A有","12307A","SKIV2L","chr6:31929014","c.640A>C(E8)","p.214,M>L","rs437179",0.82,0.69,0.7,0.67,0.69,0.7,"杂合","无关","有rs号，MAF>=5%","17486107;18204446","发-肝-肠综合征2型/TRICHOHEPATOENTERIC综合征2型","AR",614602,5,3,1,1,"SKIV2L",0.58,32,"错义",12220,"0.43=54/127",null,6499,"6p21","NM_006929.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20585",3,2,0.67,{"$nulls":3},"A有","12307A","SLC12A6","chr15:34629024","m.22C>T(E1)","非编码区","rs73374490",0.21,0.35,0.35,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",null,"胼胝体发育不全伴周围神经病变","AR",218000,5,3,6,1,"SLC12A6",1,200,"非编码区",14200,"0.67=2/3",null,9990,"15q13","NM_001042497.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4118",86,86,1,{"$nulls":3},"A有","12307A","SLC15A5","chr12:16430284","c.336G>A(E1)","p.112,Y>Y","rs1671487",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SLC15A5",1,260,"同义",13203,"0.99=153/154",null,729025,"12p12.3","NM_001170798.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24925",4,2,0.5,{"$nulls":3},"A有","12307A","SLC17A9","chr20:61588159","c.102A>G(E2)","p.34,T>T","rs2245341",0.77,0.76,0.79,0.74,0.63,0.77,"杂合","无关","有rs号，MAF>=5%",null,"弥漫性浅表性汗孔角化症8型",null,616063,5,2,3,1,"SLC17A9",1,41,"同义",13203,"0.50=6/12",null,63910,"20q13.33","NM_022082.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28484",22,14,0.64,{"$nulls":3},"A有","12307A","SLC1A5","chr19:47287939","m.196T>C(E1)","非编码区","rs313853",0.32,0.22,0.2,0.24,null,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLC1A5",0.75,56,"非编码区",14200,"0.68=21/31",null,6510,"19q13.3","NM_001145145.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17918",92,41,0.45,{"$nulls":3},"A有","12307A","SLC22A3","chr6:160858188","c.1233G>A(E7)","p.411,A>A","rs2292334",0.31,0.46,0.48,0.45,0.44,0.45,"杂合","无关","有rs号，MAF>=5%",19591196,{"$nulls":3},5,null,2,0,"SLC22A3",0.8,210,"同义",13203,"0.45=69/155",null,6581,"6q25.3","NM_021977.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2711",36,35,0.97,{"$nulls":3},"A有","12307A","SLC24A4","chr14:92909073","c.495T>C(E6)","p.165,H>H","rs941650",0.86,0.99,0.99,0.99,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"牙釉质发育不全1A5型","AR",615887,5,1,5,2,"SLC24A4",0.97,110,"同义",13203,"0.98=60/61",null,123041,"14q32.12","NM_153646.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5073",260,135,0.52,{"$nulls":3},"A有","12307A","SLC25A13","chr7:95800820","c.1197T>C(E12)","p.399,L>L","rs2301629",0.41,0.57,0.59,0.56,0.52,0.58,"杂合","无关","有rs号，MAF>=5%",22575253,"瓜氨酸血症II型（成人型）/希特林蛋白缺乏症","AR",603471,5,3,2,2,"SLC25A13",0.99,330,"同义",13203,"0.50=237/473",null,10165,"7q21.3","NM_001160210.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16208",51,50,0.98,{"$nulls":3},"A有","12307A","SLC26A10","chr12:58017701","IVS8+5T>G","剪切位点","rs7314152",0.47,0.6,0.63,0.57,0.63,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLC26A10",1,100,"剪切位点",16202,"0.98=90/92",null,65012,"12q13","NM_133489.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7101",71,35,0.49,{"$nulls":3},"A有","12307A","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,2,0,"SLC29A2",0.98,55,"错义",12410,"0.49=56/114",null,3177,"11q13","NM_001532.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25994",126,61,0.48,{"$nulls":3},"A有","12307A","SLC2A14","chr12:7967071","c.1404G>A(E12)","p.468,A>A","rs11837392",null,0.2,0.18,0.22,0.18,0.19,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"SLC2A14",1,230,"同义",13303,"0.50=103/206",null,144195,"12p13.31","NM_153449.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24063",119,45,0.38,{"$nulls":3},"A有","12307A","SLC33A1","chr3:155571275","c.512T>C(E1)","p.171,D>G","rs3804769",0.12,0.16,0.19,0.14,0.19,0.18,"杂合","无关","有rs号，MAF>=5%",null,"遗传性痉挛性截瘫42型","AD",612539,5,1,1,2,"SLC33A1",1,230,"错义",12220,"0.35=70/199",null,9197,"3q25.31","NM_001190992.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8578",181,98,0.54,{"$nulls":3},"A有","12307A","SLC36A3","chr5:150667016","c.622T>C(E7)","p.208,K>E","rs978012",0.58,0.5,0.58,0.43,0.52,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLC36A3",1,170,"错义",12220,"0.54=175/325",null,285641,"5q33.1","NM_001145017.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13894",8,5,0.62,{"$nulls":3},"A有","12307A","SLC37A4","chr11:118895495","m.2173C>G(E10)","非编码区","rs8301",0.28,0.12,0.12,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症 Ib型","AR",232220,5,3,2,2,"SLC37A4",1,81,"非编码区",14200,"0.62=5/8",null,2542,"11q23.3","NM_001164277.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26872",3,3,1,{"$nulls":3},"A有","12307A","SLC39A8","chr4:103183935","m.2056T>C(E9)","非编码区","rs151392",0.68,0.53,0.55,0.51,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC39A8",0.95,240,"非编码区",14200,"1.00=3/3",null,64116,"4q22-q24","NM_001135146.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4759",78,78,1,{"$nulls":3},"A有","12307A","SLC47A1","chr17:19454733","IVS5-4G>A","剪切位点","rs2247436",0.21,0.38,0.4,0.36,0.36,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLC47A1",0.92,130,"剪切位点",16202,"1.00=134/134",null,55244,"17p11.2","NM_018242.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23850",78,38,0.49,{"$nulls":3},"A有","12307A","SLC51A","chr3:195956827","c.675T>C(E7)","p.225,L>L","rs17852687",0.5,0.8,0.78,0.81,0.78,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC51A",1,95,"同义",13203,"0.45=62/137",null,200931,"3q29","NM_152672.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31183",100,51,0.51,{"$nulls":3},"A有","12307A","SLC5A1","chr22:32482321","IVS10+7T>G","非编码区","rs5998233",0.45,0.14,0.14,0.14,null,0.16,"杂合","无关","有rs号，MAF>=5%",null,"葡萄糖-半乳糖吸收不良症/肾性糖尿","AR",606824,5,3,2,1,"SLC5A1",1,160,"非编码区",16203,"0.51=84/165",null,6523,"22q12.3","NM_000343.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4002",70,70,1,{"$nulls":3},"A有","12307A","SLC6A2","chr16:55731946","IVS9+9G>A","非编码区","rs998424",0.23,0.27,0.29,0.26,0.3,0.29,"纯合","无关","有rs号，MAF>=5%",null,"直立不耐受",null,604715,5,1,2,1,"SLC6A2",0.95,90,"非编码区",16203,"0.99=109/110",null,6530,"16q12.2","NM_001043.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3041",107,107,1,{"$nulls":3},"A有","12307A","SLC7A7","chr14:23242828","c.1527T>C(E11)","p.509,K>K","rs1061040",0.79,0.91,0.91,0.91,0.88,0.93,"纯合","无关","有rs号，MAF>=5%",null,"赖氨酸尿性蛋白耐受不良/二碱基氨酸尿症II型","AR",222700,5,1,3,1,"SLC7A7",1,150,"同义",13203,"1.00=174/174",null,9056,"14q11.2","NM_001126105.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4576",146,146,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,14,0,"SLC9C1",1,330,"同义",13203,"1.00=274/274",null,285335,"3q13.2","NM_183061.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9546",112,112,1,{"$nulls":3},"A有","12307A","SLCO1B1","chr12:21331625","c.597C>T(E6)","p.199,F>F","rs2291075",0.42,0.52,0.51,0.52,0.44,0.51,"纯合","无关","有rs号，MAF>=5%","19419973;23970802","Rotor综合征/遗传性结合型胆红素增高症2型",null,237450,5,1,4,1,"SLCO1B1",1,340,"同义",13203,"1.00=195/195",null,10599,"12p","NM_006446.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30645",120,67,0.56,{"$nulls":3},"A有","12307A","SLFN13","chr17:33770802","IVS4+6C>T","剪切位点","rs10512469",0.33,0.63,0.61,0.65,null,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLFN13",1,180,"剪切位点",16201,"0.57=117/204",null,146857,"17q12","NM_144682.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26919",91,38,0.42,{"$nulls":3},"A有","12307A","SLN","chr11:107578721","m.110C>G(E2)","非编码区","rs583362",0.65,0.84,0.82,0.85,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLN",1,260,"非编码区",14200,"0.44=67/151",null,6588,"11q22-q23","NM_003063.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21147",3,2,0.67,{"$nulls":3},"A有","12307A","SMARCA5","chr4:144474666","m.3950A>C(E24)","非编码区","rs1391191",0.48,0.22,0.17,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SMARCA5",0.94,270,"非编码区",14200,"0.33=2/6",null,8467,"4q31.1-q31.2","NM_003601.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23091",63,27,0.43,{"$nulls":3},"A有","12307A","SMG6","chr17:2202943","c.1104T>C(E2)","p.368,S>S","rs216196",0.33,0.58,0.55,0.62,0.55,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"SMG6",0.98,120,"同义",13203,"0.33=37/111",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"]
["12307A(99)v15390",130,130,1,{"$nulls":3},"A有","12307A","SMR3B","chr4:71255370","IVS2-10A>T","剪切位点","rs7674958",0.67,0.61,0.55,0.66,null,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SMR3B",1,330,"剪切位点",16202,"1.00=204/204",null,10879,"4q13.3","NM_006685.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23745",28,28,1,{"$nulls":3},"A有","12307A","SNAP91","chr6:84303342","c.1551T>C(E18)","p.517,P>P","rs1033655",0.82,0.88,0.87,0.9,0.87,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SNAP91",0.99,250,"同义",13203,"1.00=47/47",null,9892,"6q14.2","NM_001242792.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25446",54,34,0.63,{"$nulls":3},"A有","12307A","SNRPG","chr2:70520846","m.24C>T(E1)","非编码区","rs15656",0.069,0.15,0.18,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SNRPG",1,360,"非编码区",14200,"0.67=47/70",null,6637,"2p13.3","NM_003096.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3306",28,28,1,{"$nulls":3},"A有","12307A","SNX8","chr7:2303986","c.729T>C(E6)","p.243,A>A","rs2286206",0.84,0.81,0.8,0.82,0.81,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SNX8",0.93,49,"同义",13203,"1.00=45/45",null,29886,"7p22.3","NM_013321.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10642",113,112,0.99,{"$nulls":3},"A有","12307A","SOGA3","chr6:127775166","m.3991T>C(E8)","非编码区","rs9375513",0.22,0.68,0.75,0.61,null,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SOGA3",0.8,50,"非编码区",14200,"0.99=193/194",null,387104,"6q22.33","NM_001012279.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9017",57,24,0.42,{"$nulls":3},"A有","12307A","SORCS2","chr4:7717012","c.2226G>A(E17)","p.742,L>L","rs2285781",0.33,0.23,0.2,0.26,0.22,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SORCS2",0.86,65,"同义",13203,"0.43=43/100",null,57537,"4p16.1","NM_020777.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2014",12,12,1,{"$nulls":3},"A有","12307A","SP7","chr12:53722098","c.1128A>G(E3)","p.376,H>H","rs7138938",0.96,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"成骨不全12型","AR",613849,5,1,2,1,"SP7",1,44,"同义",13203,"1.00=24/24",null,121340,"12q13.13","NM_001173467.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28445",125,56,0.45,{"$nulls":3},"A有","12307A","SPAM1","chr7:123594206","c.582G>A(E3)","p.194,K>K","rs2285996",0.25,0.3,0.3,0.31,0.25,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SPAM1",1,180,"同义",13203,"0.46=98/212",null,6677,"7q31.3","NM_001174044.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v949",52,31,0.6,{"$nulls":3},"A有","12307A","SPATA19","chr11:133714522","c.149G>A(E3)","p.50,A>V","rs2282602",0.34,0.57,0.56,0.57,0.57,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SPATA19",1,170,"错义",12210,"0.59=54/92",null,219938,"11q25","NM_174927.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31060",25,25,1,{"$nulls":3},"A有","12307A","SPATA31A6","chr9:43630712","m.19A>G(E1)","非编码区","rs62556735",0.49,0.62,0.59,0.66,null,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SPATA31A6",0.99,61,"非编码区",14200,"1.00=35/35",{"$nulls":3},"NM_001145196.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23912",169,169,1,{"$nulls":3},"A有","12307A","SPEF2","chr5:35641582","c.211A>C(E3)","p.71,N>H","rs6897513",0.68,0.71,0.72,0.69,0.7,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SPEF2",1,290,"错义",12220,"1.00=312/312",null,79925,"5p13.2","NM_024867.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24755",177,176,0.99,{"$nulls":3},"A有","12307A","SPG11","chr15:44943757","c.1388A>G(E6)","p.463,F>S","rs3759871",0.47,0.45,0.44,0.46,0.41,0.47,"纯合","无关","有rs号，MAF>=5%",null,"遗传性痉挛性截瘫11型","AR",604360,5,1,2,1,"SPG11",0.99,220,"错义",12210,"1.00=322/323",null,80208,"15q14","NM_001160227.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16920",190,95,0.5,{"$nulls":3},"A有","12307A","SPINK5","chr5:147486677","c.1557C>A(E17)","p.519,G>G","rs880687",0.43,0.44,0.41,0.47,0.43,0.48,"杂合","无关","有rs号，MAF>=5%",null,"内瑟顿综合征/Netherton综合征 ","AR",256500,5,3,16,2,"SPINK5",1,290,"同义",13203,"0.52=174/332",null,11005,"5q32","NM_001127698.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14765",3,2,0.67,{"$nulls":3},"A有","12307A","SPPL2C","chr17:43923180","c.908G>A(E1)","p.303,R>H","rs242944",0.61,0.82,0.83,0.81,0.72,0.81,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SPPL2C",1,24,"错义",12220,"0.75=3/4",null,162540,"17q21.31","NM_175882.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15784",53,52,0.98,{"$nulls":3},"A有","12307A","SPRR1B","chr1:153004983","c.162C>T(E2)","p.54,P>P","rs12195",0.5,0.65,0.65,0.66,0.62,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SPRR1B",1,110,"同义",13203,"0.97=75/77",null,6699,"1q21-q22","NM_003125.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10855",79,78,0.99,{"$nulls":3},"A有","12307A","SPTA1","chr1:158584091","c.6794A>G(E49)","p.2265,I>T","rs952094",0.51,0.61,0.62,0.61,0.6,0.6,"纯合","无关","有rs号，MAF>=5%",null,"椭圆形红细胞增多症2型","AD",130600,5,1,15,3,"SPTA1",1,180,"错义",12220,"0.99=139/141",null,6708,"1q21","NM_003126.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10854",87,48,0.55,{"$nulls":3},"A有","12307A","SPTA1","chr1:158647522","c.915A>G(E7)","p.305,S>S","rs703121",0.45,0.56,0.6,0.5,0.55,0.55,"杂合","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",266140,5,3,15,3,"SPTA1",1,180,"同义",13203,"0.52=81/157",null,6708,"1q21","NM_003126.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26657",4,3,0.75,{"$nulls":3},"A有","12307A","SRCRB4D","chr7:76023041","IVS8-8G>A","剪切位点","rs10271668",0.066,0.15,0.14,0.16,null,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SRCRB4D",0.87,40,"剪切位点",16202,"0.80=4/5",null,136853,"7q11.23","NM_080744.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2672",154,154,1,{"$nulls":3},"A有","12307A","SRGAP1","chr12:64472803","c.1230A>T(E9)","p.410,S>S","rs789710",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SRGAP1",1,220,"同义",13203,"1.00=297/297",null,57522,"12q14.2","NM_020762.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28356",6,6,1,{"$nulls":3},"A有","12307A","SRPK3","chrX:153049535","c.1011A>G(E10)","p.337,P>P","rs4898444",null,0.82,0.87,0.78,0.65,0.81,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"SRPK3",0.97,34,"同义",13303,"1.00=8/8",null,26576,"Xq28","NM_001170760.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13864",2,2,1,{"$nulls":3},"A有","12307A","SSPO","chr7:149486294","c.4274A>G(E28)","p.1425,Q>R","rs855691",0.091,0.082,0.081,0.083,0.079,0.091,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,28,0,"SSPO",0.97,17,"错义",12230,"1.00=4/4",null,23145,"7q36.1","NM_198455.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13858",5,4,0.8,{"$nulls":3},"A有","12307A","SSPO","chr7:149519184","c.13002C>T(E85)","p.4334,L>L","rs1008336",0.18,0.2,0.15,0.24,0.11,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,28,0,"SSPO",0.97,17,"同义",13203,"0.75=6/8",null,23145,"7q36.1","NM_198455.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19504",20,15,0.75,{"$nulls":3},"A有","12307A","ST6GAL1","chr3:186793702","m.1642G>A(E7)","非编码区","rs2239611",0.064,0.27,0.3,0.25,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ST6GAL1",1,170,"非编码区",14200,"0.81=22/27",null,6480,"3q27-q28","NM_003032.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14623",17,11,0.65,{"$nulls":3},"A有","12307A","STAP2","chr19:4324564","c.1173C>T(E12)","p.391,V>V","rs57455784",0.1,0.067,0.076,0.058,0.06,0.094,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"STAP2",1,72,"同义",13203,"0.47=14/30",null,55620,"19p13.3","NM_017720.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22392",141,67,0.48,{"$nulls":3},"A有","12307A","STIL","chr1:47767914","c.257G>A(E4)","p.86,A>V","rs3125630",0.61,0.55,0.51,0.59,0.54,0.55,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性原发性小头畸形7型",null,612703,5,2,3,1,"STIL",1,220,"错义",12220,"0.46=117/257",null,6491,"1p32","NM_001048166.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v162",43,43,1,{"$nulls":3},"A有","12307A","STK16","chr2:220113242","c.879T>G(E8)","p.293,L>L","rs7601549",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"STK16",1,120,"同义",13203,"1.00=71/71",null,8576,"2q35","NM_001008910.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8919",127,126,0.99,{"$nulls":3},"A有","12307A","STON1","chr2:48808152","c.380G>C(E3)","p.127,R>T","rs940389",0.36,0.4,0.38,0.42,0.44,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"STON1",1,170,"错义",12220,"1.00=201/202",null,11037,"2p16.3","NM_001198595.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11352",10,5,0.5,{"$nulls":3},"A有","12307A","STXBP1","chr9:130453353","m.2199C>T(E19)","非编码区","rs17849172",0.01,0.048,0.043,0.053,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"早发性婴儿癫痫性脑病4型","AD",612164,3,1,1,1,"STXBP1",1,150,"非编码区",14100,"0.45=5/11",null,6812,"9q34.1","NM_001032221.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1815",71,26,0.37,{"$nulls":3},"A有","12307A","STYXL1","chr7:75633160","c.613C>T(E7)","p.205,A>T","rs12686",0.045,0.13,0.12,0.15,0.12,0.12,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"STYXL1",1,160,"错义",12120,"0.34=41/120",null,51657,"7q11.23","NM_016086.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17211",212,212,1,{"$nulls":3},"A有","12307A","SULT1C3","chr2:108863767","c.117A>C(E1)","p.39,V>V","rs9308806",0.85,0.9,0.9,0.91,0.91,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SULT1C3",1,300,"同义",13203,"0.99=385/387",null,442038,"2q12.3","NM_001008743.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9216",161,81,0.5,{"$nulls":3},"A有","12307A","SVEP1","chr9:113212387","c.4055T>C(E24)","p.1352,Q>R","rs78239740",0.04,0.06,0.052,0.068,0.061,0.075,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"SVEP1",0.98,190,"错义",12120,"0.49=138/279",null,79987,"9q32","NM_153366.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17048",98,98,1,{"$nulls":3},"A有","12307A","SVIL","chr10:29822032","c.1264C>T(E8)","p.422,V>I","rs1247696",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"SVIL",1,130,"错义",12220,"0.99=164/165",null,6840,"10p11.2","NM_021738.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30264",28,15,0.54,{"$nulls":3},"A有","12307A","SYMPK","chr19:46327053","c.2571C>T(E19)","p.857,T>T","rs7251942",0.17,0.37,0.39,0.34,0.36,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SYMPK",0.94,44,"同义",13203,"0.53=29/55",null,8189,"19q13.3","NM_004819.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2746",83,45,0.54,{"$nulls":3},"A有","12307A","SYNE1","chr6:152652096","c.13511C>A(E77)","p.4504,C>F","rs199701902",0.0006,0.0072,0,0.015,0.0041,0.0034,"杂合","可能相关","蛋白结构预测结果为有害",null,"Emery-Dreifuss型肌营养不良4型","AD",612998,2,1,21,2,"SYNE1",1,190,"错义",12110,"0.59=78/132",null,23345,"6q25","NM_033071.3","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12307A(99)v24121",25,25,1,{"$nulls":3},"A有","12307A","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",1,61,"同义",13203,"1.00=32/32",null,8831,"6p21.3","NM_006772.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5279",5,4,0.8,{"$nulls":3},"A有","12307A","SYNJ2","chr6:158517451","m.4575A>G(E26)","非编码区","rs2502600",0.56,0.57,0.59,0.56,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SYNJ2",0.97,110,"非编码区",14200,"0.83=5/6",null,8871,"6q25.3","NM_001178088.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23723",15,11,0.73,{"$nulls":3},"A有","12307A","SYTL3","chr6:159185778","m.2154A>C(E17)","非编码区","rs146421379",0.0036,0.014,0.014,0.015,null,0.019,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"SYTL3",0.9,160,"非编码区",14100,"0.71=12/17",null,94120,"6q25.3","NM_001009991.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16609",54,27,0.5,{"$nulls":3},"A有","12307A","TACR1","chr2:75425728","c.333A>G(E1)","p.111,F>F","rs6715729",0.57,0.37,0.37,0.38,0.43,0.41,"杂合","无关","有rs号，MAF>=5%",19553914,{"$nulls":3},5,null,3,0,"TACR1",1,93,"同义",13203,"0.46=39/85",null,6869,"2p12","NM_001058.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28141",115,52,0.45,{"$nulls":3},"A有","12307A","TAF1B","chr2:10059770","c.1386G>T(E14)","p.462,E>D","rs1820965",0.44,0.51,0.49,0.54,0.54,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"TAF1B",1,270,"错义",12220,"0.41=74/180",null,9014,"2p25","NM_005680.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v259",95,50,0.53,{"$nulls":3},"A有","12307A","TAOK3","chr12:118682751","c.140C>T(E4)","p.47,S>N","rs428073",0.73,0.75,0.75,0.74,0.67,0.72,"杂合","无关","有rs号，MAF>=5%",19838195,{"$nulls":3},5,null,2,0,"TAOK3",1,210,"错义",12220,"0.55=111/201",null,51347,"12q","NM_016281.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28760",147,147,1,{"$nulls":3},"A有","12307A","TAS2R19","chr12:11174753","c.418G>A(E1)","p.140,L>L","rs1868769",0.7,0.86,0.85,0.86,0.9,0.89,"纯合","无关","有rs号，MAF>=5%",19092995,{"$nulls":3},5,null,3,0,"TAS2R19",1,250,"同义",13203,"1.00=262/262",null,259294,"12p13.2","NM_176888.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25932",230,89,0.39,{"$nulls":3},"A有","12307A","TAS2R31","chr12:11183576","c.359T>C(E1)","p.120,H>R","rs72475488",{"$nulls":4},0.49,0.5,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"TAS2R31",1,360,"错义",12310,"0.38=144/384",null,259290,"12p13.2","NM_176885.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30052",82,44,0.54,{"$nulls":3},"A有","12307A","TBC1D13","chr9:131550656","c.67T>C(E2)","p.23,L>L","rs550347992",0.0002,0,0,0,0.0011,0.0012,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"TBC1D13",1,84,"同义",13103,"0.57=78/137",null,54662,"9q34.11","NM_018201.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13958",101,40,0.4,{"$nulls":3},"A有","12307A","TBC1D4","chr13:75884216","c.2455C>T(E14)","p.819,V>I","rs1062087",0.71,0.8,0.79,0.81,0.82,0.81,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖性糖尿病5",null,616087,5,2,6,1,"TBC1D4",0.99,180,"错义",12220,"0.40=74/185",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"]
["12307A(99)v13546",227,226,1,{"$nulls":3},"A有","12307A","TBP","chr6:170878793","c.711T>C(E5)","p.237,N>N","rs1042327",0.61,0.8,0.79,0.81,0.78,0.79,"纯合","无关","有rs号，MAF>=5%",null,"迟发型帕金森病（易感）",null,168600,5,1,1,2,"TBP",1,230,"同义",13203,"0.99=402/408",null,6908,"6q27","NM_001172085.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15291",6,5,0.83,{"$nulls":3},"A有","12307A","TCEA3","chr1:23751140","m.122G>T(E1)","非编码区","rs71514235",0.45,0.57,0.57,0.57,0.51,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TCEA3",1,130,"非编码区",14200,"0.88=7/8",null,6920,"1p36.12","NM_003196.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1221",75,75,1,{"$nulls":3},"A有","12307A","TCP1","chr6:160200026","m.1871A>C(E11)","非编码区","rs4832",0.26,0.43,0.42,0.43,null,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TCP1",1,250,"非编码区",14200,"1.00=112/112",null,6950,"6q25.3-q26","NM_001008897.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1913",149,149,1,{"$nulls":3},"A有","12307A","TCTN3","chr10:97447373","c.603A>T(E4)","p.201,T>T","rs10786229",0.42,0.74,0.73,0.75,0.72,0.71,"纯合","无关","有rs号，MAF>=5%",null,"口面指综合征4型","AR",258860,5,1,1,2,"TCTN3",1,190,"同义",13203,"1.00=279/279",null,26123,"10q24.1","NM_015631.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18244",34,15,0.44,{"$nulls":3},"A有","12307A","TECTB","chr10:114059331-114059340","IVS8+9至IVS8+18:缺失CTCTGTTTTC","非编码区","rs11279253",0.65,0.7,0.72,0.67,0.099,0.65,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"TECTB",1,260,"非编码区",2500,"0.43=15/35",null,6975,"10q25-q26","NM_058222.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26390",124,124,1,{"$nulls":3},"A有","12307A","TENM3","chr4:183652175","c.2850T>C(E15)","p.950,D>D","rs10866256",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null,"孤立性小眼球，伴眼组织缺损9型","AR",615145,5,1,3,1,"TENM3",0.98,160,"同义",13203,"1.00=208/209",{"$nulls":3},"NM_001080477.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27252",31,16,0.52,{"$nulls":3},"A有","12307A","TESK2","chr1:45810506","m.2125A>T(E11)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"TESK2",1,160,"非编码区",14400,"0.41=21/51",null,10420,"1p32","NM_007170.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18299",119,119,1,{"$nulls":3},"A有","12307A","TFB1M","chr6:155606325","c.633C>T(E5)","p.211,T>T","rs324356",0.67,0.82,0.81,0.83,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TFB1M",1,230,"同义",13203,"1.00=215/216",null,51106,"6q25.1-q25.3","NM_016020.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13605",194,194,1,{"$nulls":3},"A有","12307A","TFRC","chr3:195798258","IVS6+9T>C","非编码区","rs480760",0.89,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TFRC",1,270,"非编码区",16203,"1.00=367/368",null,7037,"3q29","NM_001128148.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11245",74,74,1,{"$nulls":3},"A有","12307A","TGFBR3","chr1:92174260","c.2244A>G(E14)","p.748,T>T","rs284878",0.91,0.74,0.74,0.73,0.79,0.77,"纯合","无关","有rs号，MAF>=5%","19299629;22290546",{"$nulls":3},5,null,6,0,"TGFBR3",1,190,"同义",13203,"1.00=127/127",null,7049,"1p33-p32","NM_001195683.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5998",11,4,0.36,{"$nulls":3},"A有","12307A","THAP2","chr12:72071045","m.1457A>G(E3)","非编码区","rs10748180",0.63,0.83,0.83,0.83,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"THAP2",1,260,"非编码区",14200,"0.40=6/15",null,83591,"12q21.1","NM_031435.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13277",179,84,0.47,{"$nulls":3},"A有","12307A","THOC1","chr18:224184","IVS15-5C>G","剪切位点","rs631343",0.7,0.55,0.54,0.57,null,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"THOC1",1,320,"剪切位点",16202,"0.45=131/293",null,9984,"18p11.32","NM_005131.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4175",82,82,1,{"$nulls":3},"A有","12307A","THOC5","chr22:29908072","c.1735C>T(E19)","p.579,V>I","rs1049534",0.22,0.46,0.46,0.47,0.48,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"THOC5",1,150,"错义",12220,"0.99=128/129",null,8563,"22q12.2","NM_001002877.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15643",5,2,0.4,{"$nulls":3},"A有","12307A","TIFA","chr4:113198883-113198890","m.972(E2)至m.965(E2):缺失GATAATAC插入TT","非编码区","rs145580634,rs3080382,rs5861094,rs5861095,rs368085116,rs5861096",{"$nulls":4},0.02,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"TIFA",1,100,"非编码区",2430,"0.40=2/5",null,92610,"4q25","NM_052864.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11295",38,38,1,{"$nulls":3},"A有","12307A","TIRAP","chr11:126163691","m.1211A>G(E6)","非编码区","rs611953",0.78,0.99,1,0.98,null,0.99,"纯合","无关","有rs号，MAF>=5%",null,"结核分枝杆菌易感",null,607948,5,1,3,4,"TIRAP",1,35,"非编码区",14200,"1.00=48/48",null,114609,"11q24.2","NM_001039661.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31212",90,89,0.99,{"$nulls":3},"A有","12307A","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,607748,5,1,2,2,"TJP2",0.99,170,"非编码区",14200,"0.99=125/126",null,9414,"9q13-q21","NM_001170415.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18325",150,72,0.48,{"$nulls":3},"A有","12307A","TLR10","chr4:38776303","c.909T>C(E2)","p.303,K>K","rs11466652",0.2,0.11,0.11,0.1,0.079,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"TLR10",1,150,"同义",13203,"0.49=124/254",null,81793,"4p14","NM_001017388.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5154",39,39,1,{"$nulls":3},"A有","12307A","TLR8","chrX:12939928","c.2769T>C(E2)","p.923,D>D","rs2109135",null,1,1,1,0.95,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"TLR8",1,180,"同义",13303,"0.98=58/59",null,51311,"Xp22","NM_138636.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15652",49,49,1,{"$nulls":3},"A有","12307A","TM4SF5","chr17:4686341","IVS4+9T>G","非编码区","rs3853644",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TM4SF5",1,70,"非编码区",16203,"1.00=77/77",null,9032,"17p13.3","NM_003963.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24079",48,24,0.5,{"$nulls":3},"A有","12307A","TMCC3","chr12:94972290","c.1011C>T(E3)","p.337,E>E","rs2270893",0.52,0.47,0.48,0.47,0.42,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TMCC3",0.95,94,"同义",13203,"0.50=33/66",null,57458,"12q22","NM_020698.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26876",18,17,0.94,{"$nulls":3},"A有","12307A","TMEM123","chr11:102269398-102269398","m.1248(E5):缺失G","非编码区","rs5794169",0.99,1,1,1,0.14,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"TMEM123",0.84,230,"非编码区",2420,"0.95=19/20",null,114908,"11q22.1","NM_052932.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5088",3,3,1,{"$nulls":3},"A有","12307A","TMEM132C","chr12:129190021","c.2508A>G(E9)","p.836,Q>Q","rs11059841",0.98,1,1,1,0.83,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TMEM132C",0.97,52,"同义",13203,"1.00=4/4",null,92293,"12q24.32","NM_001136103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25247",46,46,1,{"$nulls":3},"A有","12307A","TMEM176A","chr7:150500729","c.364A>G(E5)","p.122,T>A","rs741064",0.9,0.96,0.96,0.96,0.92,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMEM176A",1,78,"错义",12220,"1.00=78/78",null,55365,"7q36.1","NM_018487.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8642",115,58,0.5,{"$nulls":3},"A有","12307A","TMEM200A","chr6:130761798","c.231T>C(E2)","p.77,A>A","rs3813360",0.3,0.34,0.36,0.32,0.33,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMEM200A",1,140,"同义",13203,"0.46=101/221",null,114801,"6q23.1","NM_001258276.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2947",2,2,1,{"$nulls":3},"A有","12307A","TMEM218","chr11:124972208","c.35A>G(E3)","p.12,L>S","rs14065",0.79,0.79,0.81,0.76,null,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMEM218",0.94,130,"错义",12220,"1.00=3/3",null,219854,"11q24.2","NM_001258239.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18389",14,9,0.64,{"$nulls":3},"A有","12307A","TMEM38A","chr19:16790859","c.189C>T(E2)","p.63,F>F","rs730120",0.11,0.26,0.25,0.27,0.23,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM38A",1,46,"同义",13203,"0.65=11/17",null,79041,"19p13.11","NM_024074.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8476",92,92,1,{"$nulls":3},"A有","12307A","TMEM63C","chr14:77697967","c.387A>G(E7)","p.129,A>A","rs375566",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMEM63C",1,100,"同义",13203,"1.00=166/166",null,57156,"14q24.3","NM_020431.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4841",7,6,0.86,{"$nulls":3},"A有","12307A","TMEM8A","chr16:427479","c.406T>C(E3)","p.136,T>A","rs11248931",0.53,0.31,0.3,0.33,0.27,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TMEM8A",0.94,21,"错义",12220,"0.93=13/14",null,58986,"16p13.3","NM_021259.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26336",110,52,0.47,{"$nulls":3},"A有","12307A","TMIGD1","chr17:28651930","c.544T>C(E4)","p.182,I>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"TMIGD1",1,200,"错义",12420,"0.50=89/177",null,388364,"17q11.2","NM_206832.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11757",94,94,1,{"$nulls":3},"A有","12307A","TMTC1","chr12:29736480","c.1278A>G(E8)","p.426,H>H","rs2113879",0.37,0.49,0.51,0.46,0.43,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMTC1",0.92,210,"同义",13203,"1.00=157/157",null,83857,"12p11.22","NM_001193451.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22833",129,66,0.51,{"$nulls":3},"A有","12307A","TNFRSF11A","chr18:60027241","c.575C>T(E6)","p.192,A>V","rs1805034",0.59,0.63,0.67,0.6,0.63,0.69,"杂合","无关","有rs号，MAF>=5%","20231205;20564239;22023082;24886600;25019155","遗传性扩张型多骨溶骨发育不良","AD",174810,5,1,2,3,"TNFRSF11A",0.92,98,"错义",12220,"0.50=131/262",null,8792,"18q22.1","NM_001270949.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11171",7,7,1,{"$nulls":3},"A有","12307A","TNFRSF13B","chr17:16842912","c.831A>G(E5)","p.277,S>S","rs11078355",0.6,0.77,0.72,0.82,0.74,0.79,"纯合","无关","有rs号，MAF>=5%",null,"普通变异性免疫缺陷病2型","AD,AR",240500,5,1,3,2,"TNFRSF13B",1,43,"同义",13203,"1.00=13/13",null,23495,"17p11.2","NM_012452.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13264",174,93,0.53,{"$nulls":3},"A有","12307A","TNMD","chrX:99849017","c.306G>A(E3)","p.102,V>V","rs2073162",null,0.71,0.7,0.72,0.67,0.67,"杂合","未知","预测范围之外的同义突变",17495183,{"$nulls":3},4,null,1,0,"TNMD",1,280,"同义",13303,"0.52=148/286",null,64102,"Xq21.33-q23","NM_022144.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17013",2,2,1,{"$nulls":3},"A有","12307A","TNRC18","chr7:5410951","c.3274C>T(E11)","p.1092,G>R",{"$nulls":6},0,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"TNRC18",0.84,19,"错义",12410,"1.00=2/2",null,84629,"7p22.1","NM_001080495.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23171",12,6,0.5,{"$nulls":3},"A有","12307A","TOMM40L","chr1:161196166","m.116A>C(E2)","非编码区","rs3813628",0.31,0.53,0.56,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TOMM40L",1,110,"非编码区",14200,"0.40=6/15",null,84134,"1q23.3","NM_032174.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4249",81,44,0.54,{"$nulls":3},"A有","12307A","TOP3B","chr22:22330082","m.435T>C(E2)","非编码区","rs239927",0.67,0.45,0.42,0.48,0.4,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TOP3B",1,60,"非编码区",14200,"0.51=72/140",null,8940,"22q11.22","NM_003935.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26893",42,42,1,{"$nulls":3},"A有","12307A","TP53","chr17:7579801","m.314G>C(E2)","非编码区","rs1642785",0.58,0.57,0.6,0.53,0.61,0.59,"杂合","无关","有rs号，MAF>=5%",null,"神经胶质瘤,易感1型","AD",137800,5,1,3,11,"TP53",1,110,"非编码区",14200,"0.77=72/93",null,7157,"17p13.1","NM_001126118.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31710",168,158,0.94,{"$nulls":3},"A有","12307A","TP63","chr3:189507515-189507518","m.67(E1)至m.70(E1):缺失TCTC插入CCTCAGGG","非编码区","rs145588726,rs72592281,rs34201045",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",null,"睑缘粘连,外胚叶缺陷及裂唇（腭）综合征","AD",106260,3,1,5,6,"TP63",1,200,"非编码区",2430,"0.94=179/190",null,8626,"3q28","NM_001114980.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31709",169,158,0.93,{"$nulls":3},"A有","12307A","TP63","chr3:189507519-189507523","m.71(E1)至m.75(E1):缺失GGGGT插入AGAGGGGGG","非编码区","rs62702062",{"$nulls":4},0,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"先天性缺指趾畸形,外胚层发育不良,和裂唇/腭综合征3","AD",604292,3,1,5,6,"TP63",1,200,"非编码区",2430,"0.93=179/192",null,8626,"3q28","NM_001114980.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2492",7,7,1,{"$nulls":3},"A有","12307A","TPSB2","chr16:1279623","c.177G>A(E3)","p.59,C>C","rs72633259",0.4,0.69,0.71,0.67,0.64,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"TPSB2",0.99,48,"同义",13203,"1.00=12/12",null,64499,"16p13.3","NM_024164.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19226",15,6,0.4,{"$nulls":3},"A有","12307A","TRAF3IP3","chr1:209933540","c.156A>G(E3)","p.52,Q>Q","rs2076150",0.37,0.23,0.22,0.23,0.17,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TRAF3IP3",1,130,"同义",13203,"0.46=11/24",null,80342,"1q32","NM_025228.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22480",233,232,1,{"$nulls":3},"A有","12307A","TRAPPC8","chr18:29432624","c.3436T>C(E23)","p.1146,T>A","rs3737374",0.44,0.53,0.59,0.47,0.5,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TRAPPC8",1,300,"错义",12220,"1.00=413/414",null,22878,"18q12.1","NM_014939.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16001",3,3,1,{"$nulls":3},"A有","12307A","TRIB3","chr20:377226","c.969C>T(E4)","p.323,A>A","rs6115830",0.4,0.33,0.35,0.31,0.22,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TRIB3",0.99,15,"同义",13203,"1.00=8/8",null,57761,"20p13-p12.2","NM_021158.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24068",175,91,0.52,{"$nulls":3},"A有","12307A","TRIM33","chr1:114973429","c.1146T>C(E6)","p.382,Q>Q","rs12083584",0.3,0.046,0.043,0.049,0.039,0.037,"杂合","无关","有rs号，MAF>=5%",null,"乳头状甲状腺癌","AD",188550,5,1,2,1,"TRIM33",0.92,210,"同义",13203,"0.54=166/307",null,51592,"1p13.1","NM_015906.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9811",110,109,0.99,{"$nulls":3},"A有","12307A","TRIM51","chr11:55656483","IVS5+6T>A","剪切位点","rs7483200",0.83,0.93,0.96,0.89,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TRIM51",1,180,"剪切位点",16202,"0.98=181/184",null,84767,"11q11","NM_032681.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18351",65,39,0.6,{"$nulls":3},"A有","12307A","TRIM6-TRIM34","chr11:5663706","c.1906G>C(E12)","p.636,D>H","rs3740997",0.066,0.17,0.18,0.17,0.12,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TRIM6-TRIM34",1,130,"错义",12210,"0.57=55/97",null,445372,"11p15","NM_001003819.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18761",3,3,1,{"$nulls":3},"A有","12307A","TRIOBP","chr22:38129332","c.3975G>A(E8)","p.1325,Q>Q","rs7284476",0.34,0.62,0.62,0.63,0.5,0.59,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传耳聋28型","AR",609823,5,1,7,1,"TRIOBP",0.94,110,"同义",13203,"1.00=5/5",null,11078,"22q13.1","NM_001039141.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9677",24,15,0.62,{"$nulls":3},"A有","12307A","TRPC4","chr13:38357494","m.212G>A(E2)","非编码区","rs12583681",0.1,0.053,0.057,0.049,null,0.053,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TRPC4",1,180,"非编码区",14200,"0.69=24/35",null,7223,"13q13.3","NM_001135955.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16272",324,134,0.41,{"$nulls":3},"A有","12307A","TRPM6","chr9:77407636","c.2427C>T(E19)","p.809,Q>Q","rs4145894",0.27,0.51,0.49,0.54,0.46,0.48,"杂合","无关","有rs号，MAF>=5%",null,"低镁血症1型","AR",602014,5,3,4,1,"TRPM6",1,220,"同义",13203,"0.40=244/617",null,140803,"9q21.13","NM_001177310.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26435",15,15,1,{"$nulls":3},"A有","12307A","TRPV4","chr12:110240838","c.670T>G(E3)","p.224,R>R","rs3825394",0.75,0.97,0.96,0.97,0.87,0.95,"纯合","无关","有rs号，MAF>=5%",null,"肩胛性脊髓性肌萎缩症","AD",181405,5,1,1,10,"TRPV4",1,48,"同义",13203,"1.00=23/23",null,59341,"12q24.1","NM_001177428.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11755",96,96,1,{"$nulls":3},"A有","12307A","TSHR","chr14:81610583","c.2181G>C(E10)","p.727,E>D","rs1991517",0.9,0.82,0.83,0.82,0.8,0.83,"纯合","无关","有rs号，MAF>=5%",19138047,"家族性妊娠期甲状腺功能亢进症",null,603373,5,1,4,3,"TSHR",1,200,"错义",12220,"1.00=158/158",null,7253,"14q31","NM_000369.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12130",4,4,1,{"$nulls":3},"A有","12307A","TSPAN11","chr12:31145029","m.1054A>G(E8)","非编码区","rs35075",0.54,0.93,0.95,0.9,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TSPAN11",0.93,62,"非编码区",14200,"1.00=4/4",null,441631,"12p11.21","NM_001080509.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27496",15,6,0.4,{"$nulls":3},"A有","12307A","TSPYL6","chr2:54482989","c.300C>T(E1)","p.100,A>A","rs6740641",0.14,0.2,0.19,0.22,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TSPYL6",1,72,"同义",13203,"0.35=7/20",null,388951,"2p16.2","NM_001003937.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25065",43,43,1,{"$nulls":3},"A有","12307A","TTC30B","chr2:178417142","c.350C>T(E1)","p.117,R>H","rs11694988",0.89,0.98,0.97,1,0.93,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TTC30B",0.98,150,"错义",12210,"1.00=59/59",null,150737,"2q31.2","NM_152517.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19675",169,169,1,{"$nulls":3},"A有","12307A","TTC4","chr1:55182300","c.139T>A(E2)","p.47,S>T","rs1147990",0.67,0.96,0.95,0.98,0.97,0.96,"纯合","无关","有rs号，MAF>=5%",15986317,{"$nulls":3},5,null,2,0,"TTC4",1,220,"错义",12220,"1.00=329/330",null,7268,"1p32.3","NM_004623.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23600",2,2,1,{"$nulls":3},"A有","12307A","TTLL10","chr1:1115213","m.137G>T(E1)","非编码区","rs11260547",0.29,0.6,0.62,0.57,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TTLL10",0.81,24,"非编码区",14200,"1.00=2/2",null,254173,"1p36.33","NM_153254.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14951",84,34,0.4,{"$nulls":3},"A有","12307A","TTN","chr2:179398823","c.97596G>A(E308)","p.32532,G>G","rs2857265",0.23,0.4,0.44,0.35,0.38,0.43,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1G型",null,604145,5,2,65,6,"TTN",0.99,170,"同义",13203,"0.43=54/125",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14963",79,37,0.47,{"$nulls":3},"A有","12307A","TTN","chr2:179430997","c.74939G>A(E276)","p.24980,T>M","rs3731746",0.34,0.6,0.62,0.58,0.56,0.61,"杂合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病9型",null,613765,5,2,65,6,"TTN",0.99,170,"错义",12210,"0.42=61/144",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14953",112,110,0.98,{"$nulls":3},"A有","12307A","TTN","chr2:179444768","c.62323C>G(E268)","p.20775,A>P","rs4145333",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,1,65,6,"TTN",0.99,170,"错义",12220,"0.99=202/205",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14982",35,17,0.49,{"$nulls":3},"A有","12307A","TTN","chr2:179455207","c.56322T>C(E254)","p.18774,T>T","rs2163009",0.51,0.7,0.73,0.66,0.62,0.7,"杂合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,3,65,6,"TTN",0.99,170,"同义",13203,"0.49=21/43",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14965",258,105,0.41,{"$nulls":3},"A有","12307A","TTN","chr2:179558366","c.30613T>C(E117)","p.10205,I>V","rs2042995",0.48,0.55,0.6,0.5,0.5,0.58,"杂合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,2,65,6,"TTN",0.99,170,"错义",12220,"0.40=192/478",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15001",102,55,0.54,{"$nulls":3},"A有","12307A","TTN","chr2:179579212","c.25338T>C(E89)","p.8446,E>E","rs2562838",0.48,0.66,0.7,0.63,0.64,0.67,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,3,65,6,"TTN",0.99,170,"同义",13203,"0.60=102/170",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14996",60,35,0.58,{"$nulls":3},"A有","12307A","TTN","chr2:179581835","c.24675C>A(E86)","p.8225,Q>H","rs2562832",0.051,0.22,0.23,0.22,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,65,6,"TTN",0.99,170,"错义",12210,"0.57=52/91",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14955",87,43,0.49,{"$nulls":3},"A有","12307A","TTN","chr2:179604160","c.12849T>G(E46)","p.4283,L>F","rs1883085",0.076,0.22,0.23,0.22,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,3,65,6,"TTN",0.99,170,"错义",12220,"0.46=64/138",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15002",85,40,0.47,{"$nulls":3},"A有","12307A","TTN","chr2:179611711","c.15416C>A(E46)","p.5139,R>M","rs66677602",0.077,0.23,0.23,0.23,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病9型",null,613765,5,2,65,6,"TTN",0.99,170,"错义",12220,"0.44=55/125",null,7273,"2q31","NM_133379.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14971",35,35,1,{"$nulls":3},"A有","12307A","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,"扩张型心肌病1G型",null,604145,5,1,65,6,"TTN",0.99,170,"错义",12220,"1.00=52/52",null,7273,"2q31","NM_133379.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14950",51,50,0.98,{"$nulls":3},"A有","12307A","TTN","chr2:179629363","c.9879T>C(E42)","p.3293,E>E","rs4894043",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病9型",null,613765,5,1,65,6,"TTN",0.99,170,"同义",13203,"0.99=81/82",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14977",51,20,0.39,{"$nulls":3},"A有","12307A","TTN","chr2:179644160","c.3759T>C(E23)","p.1253,R>R","rs2291308",0.076,0.21,0.23,0.2,0.18,0.24,"杂合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,2,65,6,"TTN",0.99,170,"同义",13203,"0.40=30/75",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14975",50,49,0.98,{"$nulls":3},"A有","12307A","TTN","chr2:179659912","c.982G>A(E7)","p.328,R>C","rs16866538",0.24,0.6,0.62,0.58,0.59,0.6,"纯合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,1,65,6,"TTN",0.99,170,"错义",12210,"0.99=75/76",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20263",91,90,0.99,{"$nulls":3},"A有","12307A","TUBAL3","chr10:5435918","c.783G>A(E4)","p.261,A>A","rs7097775",0.67,0.63,0.62,0.65,0.65,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TUBAL3",1,110,"同义",13203,"0.99=148/149",null,79861,"10p15.1","NM_001171864.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22846",2,2,1,{"$nulls":3},"A有","12307A","TUSC1","chr9:25677698","c.622A>C(E1)","p.208,S>A","rs72631815",0.17,0.18,0.2,0.17,0.1,0.29,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TUSC1",0.61,1.3,"错义",12220,"1.00=2/2",null,286319,"9p21.2","NM_001004125.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7762",7,7,1,{"$nulls":3},"A有","12307A","TXNDC17","chr17:6544275","m.54T>C(E1)","非编码区","rs1157901",0.72,0.71,0.71,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TXNDC17",1,150,"非编码区",14200,"1.00=8/8",null,84817,"17p13.1","NM_032731.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23234",285,120,0.42,{"$nulls":3},"A有","12307A","TYW1B","chr7:72209528-72209528","c.1015(E8):缺失A","缺失移码","rs11354897",0.22,0.23,0.18,0.28,0.047,0.21,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,6,0,"TYW1B",1,360,"缺失移码",2120,"0.40=135/334",null,441250,"7q11.23","NM_001145440.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14733",30,13,0.43,{"$nulls":3},"A有","12307A","UBE3D","chr6:83602583","m.1436C>T(E10)","非编码区","rs4706975",0.36,0.2,0.2,0.2,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UBE3D",1,300,"非编码区",14200,"0.43=15/35",null,90025,"6q14.1","NM_198920.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4733",65,40,0.62,{"$nulls":3},"A有","12307A","UBQLNL","chr11:5537045","c.627T>G(E1)","p.209,P>P","rs872751",0.32,0.4,0.39,0.4,0.36,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"UBQLNL",1,100,"同义",13203,"0.62=63/102",null,143630,"11p15.4","NM_145053.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6073",28,28,1,{"$nulls":3},"A有","12307A","UBXN8","chr8:30623996","m.915T>C(E8)","非编码区","rs2956016",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"UBXN8",1,350,"非编码区",14200,"1.00=38/38",null,7993,"8p12-p11.2","NM_005671.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24367",7,7,1,{"$nulls":3},"A有","12307A","UGT1A10","chr2:234681416","m.1850T>C(E5)","非编码区","rs10929303",0.75,0.87,0.86,0.89,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"UGT1A10",1,210,"非编码区",14200,"1.00=7/7",null,54575,"2q37","NM_019075.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1289",61,30,0.49,{"$nulls":3},"A有","12307A","UGT1A9","chr2:234681015","c.1403C>T(E5)","p.468,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,3,0,"UGT1A9",1,220,"错义",12410,"0.47=44/93",null,54600,"2q37","NM_021027.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8026",11,7,0.64,{"$nulls":3},"A有","12307A","UGT3A2","chr5:36035727","m.1675A>G(E6)","非编码区","rs76748392",0.098,0.19,0.21,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UGT3A2",1,190,"非编码区",14200,"0.64=7/11",null,167127,"5p13.2","NM_001168316.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24356",138,137,0.99,{"$nulls":3},"A有","12307A","ULK4","chr3:41841716","c.1918A>C(E20)","p.640,S>A","rs4973986",0.87,0.78,0.79,0.78,0.79,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ULK4",1,260,"错义",12220,"0.99=232/234",null,54986,"3p22.1","NM_017886.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18742",84,84,1,{"$nulls":3},"A有","12307A","UNC13A","chr19:17746947","c.3101A>G(E26)","p.1034,L>P","rs4239634",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"UNC13A",0.94,83,"错义",12220,"1.00=152/152",null,23025,"19p13.11","NM_001080421.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v969",81,33,0.41,{"$nulls":3},"A有","12307A","UNC5CL","chr6:40998141","c.1320G>A(E8)","p.440,C>C","rs736795",0.28,0.27,0.28,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UNC5CL",0.99,44,"同义",13203,"0.39=57/147",null,222643,"6p21.1","NM_173561.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26938",53,53,1,{"$nulls":3},"A有","12307A","UPRT","chrX:74494483","IVS1+8A>G","非编码区","rs5981831",null,0.98,0.98,0.97,null,0.98,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"UPRT",1,240,"非编码区",16303,"1.00=84/84",null,139596,"Xq13.3","NM_145052.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17303",64,30,0.47,{"$nulls":3},"A有","12307A","USH2A","chr1:216371934","IVS17-8A>C","剪切位点","rs646094",0.2,0.2,0.15,0.26,0.16,0.21,"杂合","无关","有rs号，MAF>=5%",null,"尤塞氏综合症IIA型","AR",276901,5,3,12,2,"USH2A",1,210,"剪切位点",16202,"0.50=54/107",null,7399,"1q41","NM_007123.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13448",90,40,0.44,{"$nulls":3},"A有","12307A","USP2","chr11:119229964","c.309G>A(E4)","p.103,Y>Y","rs2241646",0.71,0.87,0.88,0.86,0.85,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"USP2",0.98,74,"同义",13203,"0.42=67/160",null,9099,"11q23.3","NM_001243759.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14515",178,176,0.99,{"$nulls":3},"A有","12307A","USP34","chr2:61522123","c.4422T>C(E32)","p.1474,E>E","rs13014347",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"USP34",1,310,"同义",13203,"0.99=304/306",null,9736,"2p15","NM_014709.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27045",37,21,0.57,{"$nulls":3},"A有","12307A","USP5","chr12:6970635","c.1527G>A(E13)","p.509,K>K","rs117876102",null,0.034,0.024,0.044,0.03,0.026,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"USP5",1,93,"同义",13303,"0.51=37/72",null,8078,"12p13","NM_001098536.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6201",22,13,0.59,{"$nulls":3},"A有","12307A","UVRAG","chr11:75852448","c.2091C>T(E15)","p.697,S>S","rs636420",0.096,0.27,0.27,0.27,0.25,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UVRAG",0.94,230,"同义",13203,"0.54=21/39",null,7405,"11q13.5","NM_003369.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19136",105,45,0.43,{"$nulls":3},"A有","12307A","VCAN","chr5:82841476","IVS7+7T>C","非编码区","rs695103",0.16,0.24,0.25,0.22,0.25,0.23,"杂合","无关","有rs号，MAF>=5%",null,"Wagner综合症","AD",143200,5,1,11,1,"VCAN",1,170,"非编码区",16203,"0.46=80/175",null,1462,"5q14.3","NM_001126336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21190",131,108,0.82,{"$nulls":3},"A有","12307A","VEGFC","chr4:177605082-177605084","c.1258(E7)至c.1256(E7):缺失TCA","缺失非移码","rs5864401",1,1,1,1,0.19,1,"杂合","未知","有rs号，MAF>=5%的非移码突变",null,"遗传性淋巴水肿1D型","AD",615907,4,1,1,1,"VEGFC",1,200,"缺失非移码",2223,"0.83=124/149",null,7424,"4q34.3","NM_005429.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27372",95,95,1,{"$nulls":3},"A有","12307A","VNN2","chr6:133070995","c.547G>T(E4)","p.183,L>M","rs4895944",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"VNN2",1,240,"错义",12230,"0.99=169/170",null,8875,"6q23-q24","NM_001242350.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15599",132,130,0.98,{"$nulls":3},"A有","12307A","VSIG10","chr12:118509157","IVS6+7T>C","非编码区","rs7296643",0.68,0.93,0.92,0.93,null,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"VSIG10",1,130,"非编码区",16203,"0.98=233/237",null,54621,"12q24.23","NM_019086.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22851",117,56,0.48,{"$nulls":3},"A有","12307A","VSX1","chr20:25059442","c.650C>T(E3)","p.217,R>H","rs6138482",0.22,0.56,0.58,0.54,0.57,0.52,"杂合","无关","有rs号，MAF>=5%",null,"颅面畸形和眼前段发育不良综合征",null,614195,5,2,1,3,"VSX1",0.6,67,"错义",12220,"0.49=102/207",null,30813,"20p11.21","NM_199425.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29126",31,12,0.39,{"$nulls":3},"A有","12307A","VWF","chr12:6091164","IVS41-7G>A","剪切位点","rs216868",0.3,0.47,0.5,0.45,0.51,0.5,"杂合","无关","有rs号，MAF>=5%",null,"III型von Willebrand病/常染色体隐性遗传血管性血友病","AR",277480,5,3,8,3,"VWF",0.97,92,"剪切位点",16202,"0.37=15/41",null,7450,"12p13.3","NM_000552.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16503",93,12,0.13,{"$nulls":3},"A有","12307A","WDFY2","chr13:52333956-52333968","m.1594(E12)至m.1606(E12):缺失TTAACCCAAATCA","非编码区","rs147876825",0.14,0.17,0.19,0.15,0.0042,0.14,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"WDFY2",1,170,"非编码区",2420,"0.12=12/101",null,115825,"13q14.3","NM_052950.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28184",70,35,0.5,{"$nulls":3},"A有","12307A","WDR1","chr4:10099340","c.553T>C(E5)","p.185,I>V","rs13441",0.58,0.64,0.69,0.59,0.65,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WDR1",0.99,80,"错义",12220,"0.42=52/123",null,9948,"4p16.1","NM_017491.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22563",178,104,0.58,{"$nulls":3},"A有","12307A","WDR35","chr2:20135283","c.2529T>C(E22)","p.843,E>E","rs6741091",0.51,0.61,0.61,0.61,0.59,0.64,"杂合","无关","有rs号，MAF>=5%",null,"颅骨外胚层发育不良2型","AR",613610,5,3,3,2,"WDR35",1,290,"同义",13203,"0.59=194/329",null,57539,"2p24.1","NM_001006657.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23906",153,68,0.44,{"$nulls":3},"A有","12307A","WDR63","chr1:85594466","c.2393G>A(E21)","p.798,R>H","rs709783",0.22,0.23,0.22,0.24,0.22,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WDR63",1,320,"错义",12220,"0.43=127/298",null,126820,"1p22.3","NM_145172.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13909",28,11,0.39,{"$nulls":3},"A有","12307A","WDR81","chr17:1635614","IVS4-5T>C","剪切位点","rs62090048",0.25,0.5,0.5,0.49,0.47,0.51,"杂合","无关","有rs号，MAF>=5%",null,"小脑性共济失调、智力低下和平衡失调综合征2型","AR",610185,5,3,10,1,"WDR81",0.95,18,"剪切位点",16202,"0.41=24/58",null,124997,"17p13.3","NM_001163673.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10665",70,39,0.56,{"$nulls":3},"A有","12307A","WDR87","chr19:38375830","c.8364G>A(E6)","p.2788,Y>Y","rs62110235",0.07,0.096,0.12,0.068,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"WDR87",1,110,"同义",13203,"0.51=70/137",null,83889,"19q13.13","NM_031951.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17961",9,9,1,{"$nulls":3},"A有","12307A","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 综合征1型（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AR",222300,5,1,12,5,"WFS1",1,41,"剪切位点",16202,"1.00=13/13",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"]
["12307A(99)v17964",2,2,1,{"$nulls":3},"A有","12307A","WFS1","chr4:6303955","c.2433G>A(E8)","p.811,K>K","rs1046314",0.65,0.93,0.87,0.98,0.87,0.94,"纯合","无关","有rs号，MAF>=5%",null,"白内障41型","AD",116400,5,1,12,5,"WFS1",1,41,"同义",13203,"1.00=3/3",null,7466,"4p16.1","NM_001145853.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17962",5,5,1,{"$nulls":3},"A有","12307A","WFS1","chr4:6304242","m.2886T>C(E8)","非编码区","rs1046317",0.78,0.93,0.88,0.98,0.97,0.95,"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",614296,5,1,12,5,"WFS1",1,41,"非编码区",14200,"1.00=10/10",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"]
["12307A(99)v7591",94,94,1,{"$nulls":3},"A有","12307A","WNK1","chr12:990912","c.3946A>C(E13)","p.1316,T>P","rs956868",0.85,0.81,0.81,0.8,0.77,0.8,"纯合","无关","有rs号，MAF>=5%","19347040;19584173","假性醛固酮减少症2C型","AD",614492,5,1,6,2,"WNK1",0.98,170,"错义",12220,"0.99=177/178",null,65125,"12p13.3","NM_001184985.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28718",29,28,0.97,{"$nulls":3},"A有","12307A","WT1","chr11:32417945","c.1056T>C(E6)","p.352,R>R","rs16754",0.33,0.73,0.7,0.76,0.69,0.69,"纯合","无关","有rs号，MAF>=5%","15687485;17267408;19914700;20038731;20368538;20644087;21189390;21372155;21659357;21760594;21798259;22015946;22506617;22568493;22895555;23070125;23117548;23550990;23956224","Frasier综合征","AD",136680,5,1,2,6,"WT1",0.73,95,"同义",13203,"0.98=50/51",null,7490,"11p13","NM_000378.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9850",2,2,1,{"$nulls":3},"A有","12307A","WWOX","chr16:79245820","m.1721G>T(E9)","非编码区","rs383362",0.32,0.12,0.1,0.13,null,0.18,"纯合","无关","有rs号，MAF>=5%",null,"食管癌","AD",133239,5,1,3,2,"WWOX",1,180,"非编码区",14200,"1.00=2/2",null,51741,"16q23.3-q24.1","NM_016373.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v31505",45,25,0.56,{"$nulls":3},"A有","12307A","XIRP2","chr2:168100851","c.2283C>T(E7)","p.761,F>F","rs192182483",0.0012,0,0,0,null,0.0075,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"XIRP2",0.99,170,"同义",13103,"0.57=37/65",null,129446,"2q24.3","NM_001199144.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20600",24,7,0.29,{"$nulls":3},"A有","12307A","XRCC6","chr22:42059768","c.1779G>T(E13)","p.593,G>G","rs132788",0.21,0.25,0.27,0.24,0.26,0.26,"杂合","无关","有rs号，MAF>=5%","16465622;18768505;24350917",{"$nulls":3},5,null,1,0,"XRCC6",1,210,"同义",13203,"0.33=13/39",null,2547,"22q13.2","NM_001469.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28214",31,18,0.58,{"$nulls":3},"A有","12307A","YEATS2","chr3:183508590","c.2919A>G(E21)","p.973,E>E","rs79808533",0.046,0.15,0.16,0.13,0.1,0.15,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"YEATS2",1,220,"同义",13103,"0.56=27/48",null,55689,"3q27.1","NM_018023.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28041",8,6,0.75,{"$nulls":3},"A有","12307A","ZACN","chr17:74077676","c.720T>G(E7)","p.240,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,2,0,"ZACN",1,51,"同义",13403,"0.60=6/10",null,353174,"17q25.3","NM_180990.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18949",30,30,1,{"$nulls":3},"A有","12307A","ZBED4","chr22:50278642","c.1332C>T(E2)","p.444,G>G","rs910800",0.6,0.81,0.79,0.84,0.85,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZBED4",1,56,"同义",13203,"1.00=55/55",null,9889,"22q13.33","NM_014838.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9836",140,59,0.42,{"$nulls":3},"A有","12307A","ZC3H12C","chr11:110035262","c.1452A>G(E6)","p.484,R>R","rs1026608",0.22,0.21,0.22,0.19,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZC3H12C",0.99,150,"同义",13203,"0.41=94/228",null,85463,"11q22.3","NM_033390.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9060",2,2,1,{"$nulls":3},"A有","12307A","ZC3H6","chr2:113090047","c.3552T>C(E12)","p.1184,T>T","rs4578863",0.72,0.79,0.78,0.8,0.55,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZC3H6",1,190,"同义",13203,"1.00=2/2",null,376940,"2q13","NM_198581.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27581",71,71,1,{"$nulls":3},"A有","12307A","ZFAT","chr8:135612745","c.2373A>G(E8)","p.791,D>D","rs894344",0.49,0.57,0.54,0.59,0.55,0.53,"纯合","无关","有rs号，MAF>=5%",null,"自身免疫性甲状腺疾病,易感3型",null,608175,5,1,5,1,"ZFAT",1,99,"同义",13203,"1.00=121/121",null,57623,"8q24.22","NM_001029939.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27795",90,44,0.49,{"$nulls":3},"A有","12307A","ZFP28","chr19:57066844-57066847","m.2761(E8)至m.2764(E8):缺失TTAG","非编码区","rs141238428",0.45,0.3,0.28,0.32,0.02,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"ZFP28",0.95,170,"非编码区",2420,"0.48=49/103",null,140612,"-","NM_020828.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22956",7,4,0.57,{"$nulls":3},"A有","12307A","ZFP64","chr20:50769379","c.1352C>T(E6)","p.451,S>N","rs3746414",0.17,0.065,0.057,0.073,0.074,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZFP64",1,78,"错义",12220,"0.50=6/12",null,55734,"20q13.2","NM_018197.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v135",43,42,0.98,{"$nulls":3},"A有","12307A","ZG16","chr16:29790864","c.94G>A(E3)","p.32,G>S","rs235636",0.83,0.95,0.94,0.96,0.91,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZG16",1,79,"错义",12220,"0.97=75/77",null,653808,"16p11.2","NM_152338.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1274",74,74,1,{"$nulls":3},"A有","12307A","ZMYM5","chr13:20398742","c.1885C>T(E8)","p.629,V>I","rs9508908",0.8,0.98,0.97,0.98,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZMYM5",1,180,"错义",12220,"1.00=116/116",null,9205,"13q12","NM_001142684.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3313",44,44,1,{"$nulls":3},"A有","12307A","ZNF135","chr19:58572979","c.101G>A(E2)","p.34,G>D","rs1469087",0.78,0.51,0.49,0.54,0.52,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF135",0.98,120,"错义",12220,"1.00=72/72",null,7694,"19q13.4","NM_001164527.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13941",34,12,0.35,{"$nulls":3},"A有","12307A","ZNF140","chr12:133683261","m.2068T>C(E5)","非编码区","rs905226",0.41,0.21,0.22,0.21,null,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF140",1,180,"非编码区",14200,"0.29=14/49",null,7699,"12q24.33","NM_003440.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8229",13,9,0.69,{"$nulls":3},"A有","12307A","ZNF208","chr19:22153137","m.4848A>C(E4)","非编码区","rs1987570",0.57,0.75,0.72,0.79,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF208",1,130,"非编码区",14200,"0.72=13/18",null,7757,"19p12","NM_007153.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3774",39,38,0.97,{"$nulls":3},"A有","12307A","ZNF214","chr11:7022160","c.754A>G(E3)","p.252,C>R","rs2857919",0.91,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF214",1,180,"错义",12210,"0.98=61/62",null,7761,"11p15.4","NM_013249.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6527",84,42,0.5,{"$nulls":3},"A有","12307A","ZNF226","chr19:44680489","c.1074G>A(E6)","p.358,T>T","rs2178342",0.18,0.072,0.067,0.078,0.06,0.073,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF226",1,180,"同义",13203,"0.47=63/133",null,7769,"19q13.2","NM_001032372.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11960",123,122,0.99,{"$nulls":3},"A有","12307A","ZNF235","chr19:44792969","c.619G>A(E5)","p.207,L>L","rs2609908",0.76,0.75,0.74,0.75,0.7,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF235",1,170,"同义",13203,"1.00=222/223",null,9310,"19q13.2","NM_004234.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24289",192,82,0.43,{"$nulls":3},"A有","12307A","ZNF280C","chrX:129394432","m.195A>G(E2)","非编码区","rs60086384",null,0.031,0.025,0.037,0.025,0.033,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF280C",1,370,"非编码区",14300,"0.42=146/344",null,55609,"Xq26.1","NM_017666.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15373",171,88,0.51,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ZNF30",1,210,"非编码区",14200,"0.48=155/323",null,90075,"19q13.11","NM_001099437.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22733",8,2,0.25,{"$nulls":3},"A有","12307A","ZNF319","chr16:58031336","c.834G>A(E2)","p.278,Y>Y","rs201816162",1.8E-3,0.0048,0,0.0097,0.015,7.6E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZNF319",0.92,6.1,"同义",13103,"0.27=3/11",null,57567,"16q21","NM_020807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15484",10,4,0.4,{"$nulls":3},"A有","12307A","ZNF398","chr7:148877030-148877034","m.2404(E7)至m.2408(E7):缺失GACTA","非编码区","rs3837098",0.59,0.91,0.92,0.9,0.059,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"ZNF398",1,85,"非编码区",2420,"0.36=4/11",null,57541,"7q36.1","NM_020781.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5972",103,102,0.99,{"$nulls":3},"A有","12307A","ZNF429","chr19:21719401","c.546T>C(E4)","p.182,F>F","rs35782355",0.56,0.65,0.62,0.68,0.57,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF429",1,150,"同义",13203,"0.99=163/164",null,353088,"19p13.1","NM_001001415.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15151",2,2,1,{"$nulls":3},"A有","12307A","ZNF443","chr19:12551895","m.32A>T(E1)","非编码区","rs3745657",0.37,0.34,0.33,0.35,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ZNF443",1,290,"非编码区",14200,"1.00=2/2",null,10224,"19p13.2","NM_005815.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26957",10,10,1,{"$nulls":3},"A有","12307A","ZNF469","chr16:88499539","c.5577C>G(E2)","p.1859,T>T","rs9931465",0.78,0.87,0.89,0.84,0.75,0.88,"纯合","无关","有rs号，MAF>=5%",null,"脆性角膜综合症1型","AR",229200,5,1,14,1,"ZNF469",0.85,13,"同义",13203,"1.00=18/18",null,84627,"16q24","NM_001127464.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v16205",17,9,0.53,{"$nulls":3},"A有","12307A","ZNF510","chr9:99520939","m.2362C>G(E6)","非编码区","rs16911517",0.033,0.096,0.081,0.11,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZNF510",1,160,"非编码区",14100,"0.60=12/20",null,22869,"9q22.33","NM_014930.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v629",135,135,1,{"$nulls":3},"A有","12307A","ZNF534","chr19:52942445","c.1732C>T(E4)","p.578,H>Y","rs2608498",0.87,0.67,0.67,0.66,0.7,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF534",1,210,"错义",12220,"1.00=228/228",null,147658,"19q13.41","NM_001143938.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15563",40,40,1,{"$nulls":3},"A有","12307A","ZNF557","chr19:7083761","m.1772A>G(E8)","非编码区","rs8110740",0.45,0.5,0.48,0.53,null,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF557",1,200,"非编码区",14200,"1.00=64/64",null,79230,"19p13.2","NM_001044387.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30517",162,75,0.46,{"$nulls":3},"A有","12307A","ZNF584","chr19:58928786","c.901A>G(E4)","p.301,T>A","rs7257872",0.29,0.28,0.3,0.27,0.24,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF584",1,180,"错义",12220,"0.49=120/246",null,201514,"19q13.43","NM_173548.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20979",24,23,0.96,{"$nulls":3},"A有","12307A","ZNF595","chr4:86101-86102","c.706(E4)至c.707(E4):插入C","插入移码","rs397738066",null,1,1,1,0.028,1,"纯合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,6,0,"ZNF595",0.99,280,"插入移码",2130,"0.96=25/26",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"]
["12307A(99)v7232",100,40,0.4,{"$nulls":3},"A有","12307A","ZNF607","chr19:38189440","c.1589T>C(E5)","p.530,K>R","rs958305",0.58,0.32,0.31,0.33,0.34,0.31,"杂合","无关","有rs号，MAF>=5%",21314952,{"$nulls":3},5,null,4,0,"ZNF607",1,160,"错义",12210,"0.44=78/176",null,84775,"19q13.1","NM_001172677.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v7009",22,22,1,{"$nulls":3},"A有","12307A","ZNF626","chr19:20807352","c.1331C>T(E4)","p.444,R>K","rs62107361",0.78,0.82,0.83,0.82,0.74,0.84,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ZNF626",1,160,"错义",12220,"1.00=34/34",null,199777,"19p12","NM_001076675.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19761",105,51,0.49,{"$nulls":3},"A有","12307A","ZNF675","chr19:23869823","IVS1+10T>G","非编码区","rs2364624",0.62,0.46,0.5,0.43,0.51,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF675",1,160,"非编码区",16203,"0.42=80/190",null,171392,"19p12","NM_138330.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19821",86,86,1,{"$nulls":3},"A有","12307A","ZNF697","chr1:120166681","c.285G>A(E3)","p.95,S>S","rs12067843",0.67,0.8,0.79,0.8,0.77,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF697",0.91,37,"同义",13203,"0.99=157/158",null,90874,"1p12","NM_001080470.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10392",72,72,1,{"$nulls":3},"A有","12307A","ZNF705D","chr8:11970652","c.888C>T(E7)","p.296,S>S","rs200401540",{"$nulls":5},0,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZNF705D",0.99,310,"同义",13303,"1.00=92/92",null,728957,"8p23.1","NM_001039615.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v10952",91,49,0.54,{"$nulls":3},"A有","12307A","ZNF735","chr7:63680133","c.704T>A(E4)","p.235,L>H","rs117101774",0.077,0.24,0.25,0.23,0.22,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF735",1,190,"错义",12220,"0.55=91/166",null,730291,"7q11.21","NM_001159524.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19360",110,50,0.45,{"$nulls":3},"A有","12307A","ZNF737","chr19:20748522","m.105C>A(E1)","非编码区","rs12979592",0.25,0.25,0.27,0.22,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF737",1,160,"非编码区",14200,"0.46=100/216",null,100129842,"19p12","NM_001159293.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25343",16,8,0.5,{"$nulls":3},"A有","12307A","ZNF740","chr12:53575559","m.186A>G(E2)","非编码区","rs3814777",0.061,0.15,0.15,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF740",1,150,"非编码区",14200,"0.53=10/19",null,283337,"12q13.13","NM_001004304.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25344",61,36,0.59,{"$nulls":3},"A有","12307A","ZNF740","chr12:53581376","m.978C>T(E7)","非编码区","rs3101059",0.094,0.094,0.12,0.063,0.13,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF740",1,150,"非编码区",14200,"0.56=56/100",null,283337,"12q13.13","NM_001004304.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28123",97,97,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ZNF749",1,160,"错义",12220,"1.00=175/175",null,388567,"19q13.43","NM_001023561.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1495",18,9,0.5,{"$nulls":3},"A有","12307A","ZNF750","chr17:80787930","m.2571A>G(E3)","非编码区","rs572562408",0.0004,0.0024,0,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"类脂溢性皮炎合并牛皮鲜",null,610227,3,2,3,1,"ZNF750",1,54,"非编码区",14100,"0.50=11/22",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"]
["12307A(99)v1496",23,11,0.48,{"$nulls":3},"A有","12307A","ZNF750","chr17:80789026","c.1305G>C(E2)","p.435,N>K","rs138391103",0.007,0.017,0.024,0.0097,0.017,0.036,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"类脂溢性皮炎合并牛皮鲜",null,610227,3,2,3,1,"ZNF750",1,54,"错义",12120,"0.53=19/36",null,79755,"17q25.3","NM_024702.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1497",6,4,0.67,{"$nulls":3},"A有","12307A","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",1,54,"非编码区",14200,"0.67=4/6",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"]
["12307A(99)v28815",7,4,0.57,{"$nulls":3},"A有","12307A","ZNF76","chr6:35260503","c.1104C>T(E10)","p.368,H>H","rs1557567",0.63,0.67,0.7,0.64,0.61,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF76",0.99,65,"同义",13203,"0.62=8/13",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"]
["12307A(99)v28814",9,5,0.56,{"$nulls":3},"A有","12307A","ZNF76","chr6:35260530","c.1131C>T(E10)","p.377,S>S","rs1557568",{"$nulls":4},0.62,0.66,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZNF76",0.99,65,"同义",13303,"0.67=8/12",null,7629,"6p21.31","NM_003427.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29644",78,38,0.49,{"$nulls":3},"A有","12307A","ZNF761","chr19:53950475","m.412G>T(E4)","非编码区","rs8111707",0.14,0.06,0.057,0.063,null,0.08,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,230,"非编码区",14200,"0.45=56/125",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29650",35,22,0.63,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,10,0,"ZNF761",1,230,"缺失移码",2120,"0.68=28/41",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29643",147,146,0.99,{"$nulls":3},"A有","12307A","ZNF761","chr19:53958126","c.366T>G(E6)","p.122,Y>X","rs2708743",0.64,0.53,0.54,0.53,0.52,0.55,"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%",{"$nulls":4},5,null,10,0,"ZNF761",1,230,"截断",15200,"0.99=242/244",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29642",249,249,1,{"$nulls":3},"A有","12307A","ZNF761","chr19:53958263","c.503G>A(E6)","p.168,C>Y","rs1984432",0.74,0.57,0.59,0.55,0.58,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,230,"错义",12230,"1.00=459/459",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29641",114,59,0.52,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,10,0,"ZNF761",1,230,"同义",13203,"0.47=95/202",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29647",119,61,0.51,{"$nulls":3},"A有","12307A","ZNF761","chr19:53959804","c.2044T>C(E6)","p.682,X>Q","rs4803129",0.15,0.14,0.12,0.15,0.15,0.14,"杂合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,230,"加长",15200,"0.49=93/188",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29646",47,21,0.45,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,10,0,"ZNF761",1,230,"非编码区",14200,"0.42=31/73",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29645",45,19,0.42,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,10,0,"ZNF761",1,230,"非编码区",14200,"0.43=32/75",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29649",24,6,0.25,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,10,0,"ZNF761",1,230,"非编码区",2420,"0.33=9/27",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v29648",18,9,0.5,{"$nulls":3},"A有","12307A","ZNF761","chr19:53960779","m.3477T>C(E6)","非编码区","rs117423546",0.005,0.026,0.029,0.024,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,10,0,"ZNF761",1,230,"非编码区",14100,"0.36=13/36",null,388561,"19q13.42","NM_001008401.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18503",46,45,0.98,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ZNF763",1,290,"非编码区",14200,"0.99=74/75",null,284390,"19p13.2","NM_001012753.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20857",91,56,0.62,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"错义",12220,"0.58=84/145",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20858",150,76,0.51,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"同义",13203,"0.49=131/268",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20856",73,32,0.44,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.44=54/124",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20853",51,26,0.51,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.56=44/79",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20859",67,19,0.28,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,7,0,"ZNF765",1,260,"非编码区",2430,"0.27=20/73",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20855",32,12,0.38,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.43=22/51",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20854",31,17,0.55,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.55=27/49",null,91661,"19q13.42","NM_001040185.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15387",33,19,0.58,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ZNF770",1,130,"同义",13203,"0.56=28/50",null,54989,"15q14","NM_014106.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11166",3,3,1,{"$nulls":3},"A有","12307A","ZNF772","chr19:57984426","m.1947C>A(E5)","非编码区","rs10407042",0.41,0.63,0.6,0.66,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF772",1,170,"非编码区",14200,"1.00=3/3",null,400720,"19q13.43","NM_001024596.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11165",94,93,0.99,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ZNF772",1,170,"同义",13203,"0.98=157/160",null,400720,"19q13.43","NM_001024596.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11163",90,89,0.99,{"$nulls":3},"A有","12307A","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",{"$nulls":4},3,null,5,0,"ZNF772",1,170,"错义",12320,"0.99=146/147",null,400720,"19q13.43","NM_001024596.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11164",106,106,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,5,0,"ZNF772",1,170,"错义",12220,"1.00=168/168",null,400720,"19q13.43","NM_001024596.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11167",6,4,0.67,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,5,0,"ZNF772",1,170,"插入非移码",2222,"0.67=4/6",null,400720,"19q13.43","NM_001024596.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6533",2,2,1,{"$nulls":3},"A有","12307A","ZNF773","chr19:58011421","m.113G>T(E1)","非编码区","rs12463137",0.26,0.31,0.27,0.35,0.22,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF773",1,210,"非编码区",14200,"1.00=3/3",null,374928,"19q13.43","NM_198542.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6532",135,74,0.55,{"$nulls":3},"A有","12307A","ZNF773","chr19:58018497","c.1034G>A(E4)","p.345,S>N","rs190737852",0.0008,0.0072,0.014,0,0.01,0.0075,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ZNF773",1,210,"错义",12120,"0.50=121/240",null,374928,"19q13.43","NM_198542.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6534",16,16,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ZNF773",1,210,"非编码区",14200,"1.00=21/21",null,374928,"19q13.43","NM_198542.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20634",60,59,0.98,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,2,0,"ZNF774",1,160,"错义",12220,"0.98=94/96",null,342132,"15q26.1","NM_001004309.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v20635",82,38,0.46,{"$nulls":3},"A有","12307A","ZNF774","chr15:90903502","c.439G>A(E4)","p.147,V>I","rs11854320",0.096,0.058,0.052,0.063,0.031,0.049,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF774",1,160,"错义",12220,"0.45=56/124",null,342132,"15q26.1","NM_001004309.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2018",4,2,0.5,{"$nulls":3},"A有","12307A","ZNF775","chr7:150093701","c.132A>C(E3)","p.44,I>I","rs940453",0.84,0.81,0.78,0.84,0.6,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF775",0.52,2.3,"同义",13203,"0.50=3/6",null,285971,"7q36.1","NM_173680.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19833",7,2,0.29,{"$nulls":3},"A有","12307A","ZNF776","chr19:58258466","IVS1+7G>T","非编码区","rs60751243",0.28,0.47,0.49,0.46,0.41,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,200,"非编码区",16203,"0.27=3/11",null,284309,"19q13.43","NM_173632.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19832",3,3,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ZNF776",1,200,"非编码区",14200,"1.00=3/3",null,284309,"19q13.43","NM_173632.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22569",24,8,0.33,{"$nulls":3},"A有","12307A","ZNF777","chr7:149152770","c.344A>G(E2)","p.115,V>A","rs3735319",0.66,0.8,0.83,0.78,0.77,0.83,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF777",0.98,38,"错义",12220,"0.41=12/29",null,27153,"7q36.1","NM_015694.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22568",56,24,0.43,{"$nulls":3},"A有","12307A","ZNF777","chr7:149152906","c.208G>A(E2)","p.70,R>W","rs3735318",0.6,0.8,0.82,0.78,0.8,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF777",0.98,38,"错义",12220,"0.45=38/85",null,27153,"7q36.1","NM_015694.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4897",69,39,0.57,{"$nulls":3},"A有","12307A","ZNF778","chr16:89293271","c.575A>C(E7)","p.192,K>T","rs28417933",0.59,0.54,0.53,0.55,0.61,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"错义",12220,"0.55=58/105",null,197320,"16q24.3","NM_001201407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4892",56,56,1,{"$nulls":3},"A有","12307A","ZNF778","chr16:89293614","c.918A>G(E7)","p.306,E>E","rs4785626",0.77,0.89,0.88,0.9,0.89,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"1.00=86/86",null,197320,"16q24.3","NM_001201407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4893",92,90,0.98,{"$nulls":3},"A有","12307A","ZNF778","chr16:89294184","c.1488G>A(E7)","p.496,A>A","rs4785627",0.77,0.89,0.88,0.9,0.9,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"0.99=146/148",null,197320,"16q24.3","NM_001201407.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4894",123,123,1,{"$nulls":3},"A有","12307A","ZNF778","chr16:89294381","c.1685T>C(E7)","p.562,I>T","rs28415940",0.7,0.68,0.68,0.68,0.72,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"错义",12220,"1.00=214/214",null,197320,"16q24.3","NM_001201407.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4896",109,109,1,{"$nulls":3},"A有","12307A","ZNF778","chr16:89294439","c.1743G>T(E7)","p.581,Q>H","rs9921361",0.7,0.68,0.68,0.68,0.72,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"错义",12220,"0.99=190/191",null,197320,"16q24.3","NM_001201407.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4891",81,81,1,{"$nulls":3},"A有","12307A","ZNF778","chr16:89294511","c.1815C>T(E7)","p.605,T>T","rs28638280",0.77,0.89,0.88,0.9,0.89,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"1.00=151/151",null,197320,"16q24.3","NM_001201407.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4890",54,30,0.56,{"$nulls":3},"A有","12307A","ZNF778","chr16:89294595","c.1899C>T(E7)","p.633,I>I","rs74466939",0.16,0.22,0.19,0.25,0.27,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"0.55=45/82",null,197320,"16q24.3","NM_001201407.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4895",66,66,1,{"$nulls":3},"A有","12307A","ZNF778","chr16:89294697","c.2001C>T(E7)","p.667,H>H","rs60437616",0.7,0.68,0.68,0.68,0.7,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF778",1,150,"同义",13203,"1.00=112/112",null,197320,"16q24.3","NM_001201407.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12034",8,8,1,{"$nulls":3},"A有","12307A","ZNF780A","chr19:40579842","m.2732C>G(E6)","非编码区","rs427461",0.35,0.27,0.24,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF780A",1,290,"非编码区",14200,"1.00=12/12",null,284323,"19q13.2","NM_001010880.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9491",31,17,0.55,{"$nulls":3},"A有","12307A","ZNF781","chr19:38159409","m.2383G>A(E4)","非编码区","rs8108261",0.086,0.084,0.1,0.068,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF781",1,180,"非编码区",14200,"0.59=32/54",null,163115,"19q13.12","NM_152605.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9492",23,12,0.52,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ZNF781",1,180,"非编码区",14200,"0.55=21/38",null,163115,"19q13.12","NM_152605.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9493",76,38,0.5,{"$nulls":3},"A有","12307A","ZNF781","chr19:38160383","c.667T>G(E4)","p.223,I>L","rs56281742",0.086,0.084,0.1,0.068,0.098,0.099,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF781",1,180,"错义",12220,"0.48=58/120",null,163115,"19q13.12","NM_152605.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26929",77,43,0.56,{"$nulls":3},"A有","12307A","ZNF782","chr9:99580834","c.1471A>C(E6)","p.491,S>A","rs75989782",0.033,0.096,0.081,0.11,0.12,0.11,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ZNF782",1,140,"错义",12110,"0.60=79/132",null,158431,"9q22.33","NM_001001662.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26930",64,32,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ZNF782",1,140,"错义",12220,"0.49=51/105",null,158431,"9q22.33","NM_001001662.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26931",61,30,0.49,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,3,0,"ZNF782",1,140,"错义",12220,"0.50=48/96",null,158431,"9q22.33","NM_001001662.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v19485",83,39,0.47,{"$nulls":3},"A有","12307A","ZNF789","chr7:99081730","c.229A>G(E4)","p.77,T>A","rs6962772",0.46,0.34,0.35,0.33,0.34,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF789",1,160,"错义",12220,"0.44=61/138",null,285989,"7q22.1","NM_213603.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8797",135,66,0.49,{"$nulls":3},"A有","12307A","ZNF79","chr9:130191186","c.92C>T(E2)","p.31,T>I","rs13292096",0.56,0.4,0.4,0.4,0.39,0.39,"杂合","无关","有rs号，MAF>=5%",25010687,{"$nulls":3},5,null,3,0,"ZNF79",1,140,"错义",12220,"0.51=134/262",null,7633,"9q34","NM_007135.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8798",134,68,0.51,{"$nulls":3},"A有","12307A","ZNF79","chr9:130197414","c.151A>G(E3)","p.51,R>G","rs4504745",0.56,0.4,0.4,0.4,0.39,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF79",1,140,"错义",12220,"0.49=127/259",null,7633,"9q34","NM_007135.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v8799",67,31,0.46,{"$nulls":3},"A有","12307A","ZNF79","chr9:130206669","c.690C>T(E5)","p.230,F>F","rs2298182",0.14,0.23,0.2,0.26,0.23,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF79",1,140,"同义",13203,"0.48=54/112",null,7633,"9q34","NM_007135.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9567",76,31,0.41,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ZNF790",1,180,"错义",12210,"0.41=43/104",null,388536,"19q13.12","NM_001242800.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13262",26,26,1,{"$nulls":3},"A有","12307A","ZNF792","chr19:35448803","m.2343C>A(E4)","非编码区","rs1063235",0.65,0.64,0.67,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"非编码区",14200,"1.00=43/43",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13260",52,52,1,{"$nulls":3},"A有","12307A","ZNF792","chr19:35449082","c.1677G>A(E4)","p.559,D>D","rs3746243",0.26,0.45,0.49,0.41,0.4,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"同义",13203,"1.00=84/84",null,126375,"19q13.11","NM_175872.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13263",58,56,0.97,{"$nulls":3},"A有","12307A","ZNF792","chr19:35450229","c.530C>T(E4)","p.177,R>Q","rs2651079",0.63,0.64,0.66,0.62,0.63,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"错义",12220,"0.98=105/107",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13259",8,8,1,{"$nulls":3},"A有","12307A","ZNF792","chr19:35454604","m.350A>C(E1)","非编码区","rs2546028",0.64,0.65,0.67,0.63,null,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"非编码区",14200,"1.00=12/12",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13261",8,8,1,{"$nulls":3},"A有","12307A","ZNF792","chr19:35454605","m.349A>G(E1)","非编码区","rs2546029",0.64,0.65,0.67,0.63,null,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF792",1,110,"非编码区",14200,"1.00=11/11",null,126375,"19q13.11","NM_175872.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26115",95,42,0.44,{"$nulls":3},"A有","12307A","ZNF793","chr19:38028579","c.1019G>A(E8)","p.340,R>H","rs45505797",0.067,0.075,0.076,0.073,0.084,0.088,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF793",1,130,"错义",12220,"0.44=64/145",null,390927,"19q13.12","NM_001013659.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v75",161,71,0.44,{"$nulls":3},"A有","12307A","ZNF799","chr19:12502457","c.755A>G(E4)","p.252,L>P","rs4804669",0.72,0.54,0.5,0.58,0.55,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF799",1,300,"错义",12220,"0.43=115/267",null,90576,"19p13.2","NM_001080821.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4479",99,45,0.45,{"$nulls":3},"A有","12307A","ZNF8","chr19:58806083","c.909T>C(E4)","p.303,H>H","rs260471",0.38,0.48,0.41,0.54,0.5,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF8",1,84,"同义",13203,"0.44=83/188",null,7554,"19q13.43","NM_021089.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3619",75,75,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,9,0,"ZNF804A",1,160,"错义",12220,"1.00=131/131",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3620",49,49,1,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"错义",12220,"1.00=82/82",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3617",46,46,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,9,0,"ZNF804A",1,160,"同义",13203,"1.00=74/74",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3618",35,12,0.34,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"同义",13203,"0.34=20/58",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3624",132,95,0.72,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,9,0,"ZNF804A",1,160,"插入非移码",2221,"0.72=100/139",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3623",111,111,1,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"错义",12220,"1.00=186/186",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3621",49,49,1,{"$nulls":3},"A有","12307A","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,{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"错义",12220,"1.00=66/66",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3616",34,18,0.53,{"$nulls":3},"A有","12307A","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",{"$nulls":3},5,null,9,0,"ZNF804A",1,160,"错义",12220,"0.56=29/52",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3622",60,33,0.55,{"$nulls":3},"A有","12307A","ZNF804A","chr2:185803811","m.4282T>G(E4)","非编码区","rs192818983",0.0004,0.0048,0.0048,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,9,0,"ZNF804A",1,160,"非编码区",14100,"0.49=43/88",null,91752,"2q32.1","NM_194250.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26744",212,212,1,{"$nulls":3},"A有","12307A","ZNF804B","chr7:88956699","c.291A>G(E3)","p.97,V>V","rs38971",0.31,0.69,0.67,0.7,0.67,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"同义",13203,"1.00=420/421",null,219578,"7q21.13","NM_181646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26741",132,53,0.4,{"$nulls":3},"A有","12307A","ZNF804B","chr7:88963039","c.743G>A(E4)","p.248,C>Y","rs1916830",0.15,0.45,0.44,0.47,0.43,0.46,"杂合","无关","有rs号，MAF>=5%",20547088,{"$nulls":3},5,null,4,0,"ZNF804B",1,170,"错义",12210,"0.37=93/252",null,219578,"7q21.13","NM_181646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26743",83,41,0.49,{"$nulls":3},"A有","12307A","ZNF804B","chr7:88964000","c.1704C>T(E4)","p.568,F>F","rs801839",0.51,0.68,0.67,0.68,0.59,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"同义",13203,"0.47=57/120",null,219578,"7q21.13","NM_181646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26742",179,87,0.49,{"$nulls":3},"A有","12307A","ZNF804B","chr7:88964196","c.1900T>A(E4)","p.634,F>I","rs801840",0.52,0.68,0.67,0.68,0.6,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"错义",12220,"0.51=156/307",null,219578,"7q21.13","NM_181646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26170",69,34,0.49,{"$nulls":3},"A有","12307A","ZNF808","chr19:53057925","c.1756C>A(E5)","p.586,R>S","rs75830912",0.074,0.22,0.21,0.23,0.17,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF808",1,210,"错义",12220,"0.54=59/110",null,388558,"19q13.41","NM_001039886.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26171",30,17,0.57,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ZNF808",1,210,"非编码区",14200,"0.52=26/50",null,388558,"19q13.41","NM_001039886.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13689",537,141,0.26,{"$nulls":3},"A有","12307A","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,"0.25=256/1043",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"]
["12307A(99)v13688",577,150,0.26,{"$nulls":3},"A有","12307A","ZNF813","chr19:53989975","c.105C>T(E3)","p.35,D>D","rs2708793",{"$nulls":4},0.19,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"同义",13303,"0.23=275/1178",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v13691",590,154,0.26,{"$nulls":3},"A有","12307A","ZNF813","chr19:53990002","c.132G>A(E3)","p.44,L>L","rs12974996",{"$nulls":4},0.26,0.28,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"同义",13303,"0.25=306/1203",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"]
["12307A(99)v13684",118,55,0.47,{"$nulls":3},"A有","12307A","ZNF813","chr19:53993670","c.184G>A(E4)","p.62,A>T","rs2617667",0.3,0.24,0.2,0.28,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12220,"0.46=98/213",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"]
["12307A(99)v13682",158,74,0.47,{"$nulls":3},"A有","12307A","ZNF813","chr19:53993764","c.278A>T(E4)","p.93,D>V","rs12609217",0.06,0.21,0.24,0.17,0.2,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12210,"0.45=114/256",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"]
["12307A(99)v13692",179,88,0.49,{"$nulls":3},"A有","12307A","ZNF813","chr19:53993988","c.502A>T(E4)","p.168,I>F","rs12460628",0.092,0.11,0.095,0.13,0.098,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12210,"0.50=147/293",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"]
["12307A(99)v13687",129,55,0.43,{"$nulls":3},"A有","12307A","ZNF813","chr19:53994178","c.692G>A(E4)","p.231,R>K","rs10421308",0.092,0.11,0.095,0.13,0.097,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"错义",12220,"0.41=81/198",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"]
["12307A(99)v13681",132,132,1,{"$nulls":3},"A有","12307A","ZNF813","chr19:53995004","c.1518G>A(E4)","p.506,R>R","rs2708845",0.78,0.64,0.65,0.64,0.6,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"同义",13203,"1.00=215/215",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"]
["12307A(99)v13683",41,15,0.37,{"$nulls":3},"A有","12307A","ZNF813","chr19:53995530","m.2172A>C(E4)","非编码区","rs10402859",0.093,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.43=29/68",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"]
["12307A(99)v13685",45,22,0.49,{"$nulls":3},"A有","12307A","ZNF813","chr19:53995750","m.2392C>T(E4)","非编码区","rs2708843",0.5,0.31,0.28,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.49=35/72",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"]
["12307A(99)v13693",28,7,0.25,{"$nulls":3},"A有","12307A","ZNF813","chr19:53996130-53996131","m.2772(E4)至m.2773(E4):插入AT","非编码区","rs58474905",0.31,0.24,0.2,0.28,0.034,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,12,0,"ZNF813",1,270,"非编码区",2420,"0.29=9/31",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"]
["12307A(99)v13690",14,4,0.29,{"$nulls":3},"A有","12307A","ZNF813","chr19:53996295","m.2937C>T(E4)","非编码区","rs10409961",0.091,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF813",1,270,"非编码区",14200,"0.33=7/21",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"]
["12307A(99)v3447",43,43,1,{"$nulls":3},"A有","12307A","ZNF814","chr19:58383921","m.3109C>T(E3)","非编码区","rs4801239",0.81,0.72,0.76,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF814",1,250,"非编码区",14200,"1.00=64/64",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"]
["12307A(99)v3443",181,76,0.42,{"$nulls":3},"A有","12307A","ZNF814","chr19:58385748","c.1010G>A(E3)","p.337,A>V","rs145250945",{"$nulls":4},0.49,0.39,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ZNF814",1,250,"错义",12320,"0.41=133/326",null,730051,"19q13.43","NM_001144989.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3444",176,80,0.45,{"$nulls":3},"A有","12307A","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,4,0,"ZNF814",1,250,"同义",13303,"0.44=131/298",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"]
["12307A(99)v3445",139,139,1,{"$nulls":3},"A有","12307A","ZNF814","chr19:58385954","c.804T>C(E3)","p.268,K>K","rs10412929",0.31,0.45,0.47,0.43,0.45,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF814",1,250,"同义",13203,"1.00=219/219",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"]
["12307A(99)v19563",11,7,0.64,{"$nulls":3},"A有","12307A","ZNF823","chr19:11832283","m.2192A>G(E4)","非编码区","rs5851",0.52,0.48,0.5,0.46,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF823",1,210,"非编码区",14200,"0.64=7/11",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"]
["12307A(99)v345",13,7,0.54,{"$nulls":3},"A有","12307A","ZNF83","chr19:53116060","m.2500G>A(E6)","非编码区","rs1046648",0.61,0.66,0.65,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",14200,"0.50=10/20",null,55769,"19q13.3","NM_001105549.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v344",79,40,0.51,{"$nulls":3},"A有","12307A","ZNF83","chr19:53117531","c.287C>T(E6)","p.96,S>N","rs1056185",0.71,0.72,0.7,0.73,0.68,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"错义",12220,"0.53=60/114",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"]
["12307A(99)v341",29,12,0.41,{"$nulls":3},"A有","12307A","ZNF83","chr19:53117809","c.9C>A(E6)","p.3,G>G","rs10406458",0.71,0.72,0.7,0.73,0.63,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"同义",13203,"0.39=14/36",null,55769,"19q13.3","NM_001105549.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v343",37,17,0.46,{"$nulls":3},"A有","12307A","ZNF83","chr19:53122009","m.305C>T(E4)","非编码区","rs10402372",0.28,0.56,0.55,0.58,null,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",14200,"0.44=20/45",null,55769,"19q13.3","NM_001105553.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v342",139,138,0.99,{"$nulls":3},"A有","12307A","ZNF83","chr19:53158924","m.290C>T(E3)","非编码区","rs3745105",0.58,0.7,0.7,0.71,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",14200,"0.99=294/296",null,55769,"19q13.3","NM_001242531.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v347",7,2,0.29,{"$nulls":3},"A有","12307A","ZNF83","chr19:53159176-53159177","UTR:缺失AT","非编码区","rs58419919",0.58,0.7,0.7,0.71,0.021,null,"杂合","无关","不在基因上的突变",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",2600,"0.29=2/7",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"]
["12307A(99)v346",19,19,1,{"$nulls":3},"A有","12307A","ZNF83","chr19:53164088","m.200A>G(E2)","非编码区","rs12972623",0.47,0.56,0.57,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF83",1,130,"非编码区",14200,"1.00=33/33",null,55769,"19q13.3","NM_001242531.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3208",31,31,1,{"$nulls":3},"A有","12307A","ZNF830","chr17:33288882","c.297T>G(E1)","p.99,H>Q","rs931196",0.88,0.95,0.95,0.94,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF830",1,85,"错义",12220,"1.00=37/37",null,91603,"17q12","NM_052857.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v3207",4,4,1,{"$nulls":3},"A有","12307A","ZNF830","chr17:33289937","m.1389A>T(E1)","非编码区","rs8249",0.55,0.84,0.86,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF830",1,85,"非编码区",14200,"1.00=10/10",null,91603,"17q12","NM_052857.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22022",20,10,0.5,{"$nulls":3},"A有","12307A","ZNF831","chr20:57768399","c.2325T>C(E1)","p.775,A>A","rs442091",0.36,0.33,0.33,0.33,0.25,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"同义",13203,"0.51=21/41",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"]
["12307A(99)v22025",7,4,0.57,{"$nulls":3},"A有","12307A","ZNF831","chr20:57768657","c.2583T>C(E1)","p.861,D>D","rs41276962",0.12,0.23,0.25,0.21,0.16,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"同义",13203,"0.55=6/11",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"]
["12307A(99)v22024",6,3,0.5,{"$nulls":3},"A有","12307A","ZNF831","chr20:57768743","c.2669C>T(E1)","p.890,A>V","rs56057707",0.18,0.23,0.25,0.21,0.18,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"错义",12220,"0.38=3/8",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"]
["12307A(99)v22023",33,18,0.55,{"$nulls":3},"A有","12307A","ZNF831","chr20:57768984","c.2910T>G(E1)","p.970,S>R",{"$nulls":6},0.00024,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"ZNF831",0.98,47,"错义",12420,"0.55=34/62",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22021",19,15,0.79,{"$nulls":3},"A有","12307A","ZNF831","chr20:57769140","c.3066G>C(E1)","p.1022,L>F","rs55786258",0.17,0.23,0.25,0.21,0.18,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"错义",12220,"0.81=21/26",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22020",44,44,1,{"$nulls":3},"A有","12307A","ZNF831","chr20:57829301","c.4537T>C(E5)","p.1513,S>P","rs259956",0.62,0.89,0.89,0.89,0.86,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF831",0.98,47,"错义",12220,"1.00=62/62",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v22026",38,24,0.63,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,7,0,"ZNF831",0.98,47,"非编码区",2420,"0.60=27/45",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28307",76,33,0.43,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ZNF836",1,190,"错义",12220,"0.44=51/115",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28305",86,85,0.99,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ZNF836",1,190,"同义",13203,"0.99=166/167",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28304",72,72,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ZNF836",1,190,"错义",12220,"1.00=105/105",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28306",71,34,0.48,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,4,0,"ZNF836",1,190,"同义",13203,"0.47=50/106",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12166",5,3,0.6,{"$nulls":3},"A有","12307A","ZNF837","chr19:58880242","c.458T>C(E3)","p.153,Q>R","rs7256940",0.15,0.33,0.3,0.37,0.22,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF837",0.37,1.8,"错义",12220,"0.64=7/11",null,116412,"19q13.43","NM_138466.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1657",122,122,1,{"$nulls":3},"A有","12307A","ZNF839","chr14:102792386","c.5T>C(E2)","p.2,L>P","rs7158731",0.42,0.35,0.3,0.4,0.36,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF839",0.9,93,"错义",12220,"1.00=200/200",null,55778,"14q32.31","NM_001267827.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1655",68,67,0.99,{"$nulls":3},"A有","12307A","ZNF839","chr14:102792631","c.250G>A(E2)","p.84,D>N","rs7158139",0.42,0.35,0.3,0.4,0.35,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF839",0.9,93,"错义",12220,"0.99=99/100",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1656",82,82,1,{"$nulls":3},"A有","12307A","ZNF839","chr14:102798055","c.940G>A(E3)","p.314,A>T","rs1543540",0.17,0.3,0.25,0.35,0.32,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF839",0.9,93,"错义",12220,"1.00=154/154",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18098",68,31,0.46,{"$nulls":3},"A有","12307A","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",1,330,"剪切位点",16302,"0.44=51/115",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"]
["12307A(99)v18097",117,116,0.99,{"$nulls":3},"A有","12307A","ZNF84","chr12:133634450","c.1149A>C(E5)","p.383,A>A","rs115172135",{"$nulls":4},1,null,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF84",1,330,"同义",13303,"0.98=197/200",null,7637,"12q24.33","NM_001127372.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18099",20,20,1,{"$nulls":3},"A有","12307A","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",1,330,"非编码区",14300,"1.00=24/24",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"]
["12307A(99)v22602",136,62,0.46,{"$nulls":3},"A有","12307A","ZNF841","chr19:52569057","c.2078C>T(E7)","p.693,S>N","rs72483950",0.019,0.087,0.086,0.087,0.074,0.1,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ZNF841",1,200,"错义",12120,"0.48=108/226",null,284371,"19q13.41","NM_001136499.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14340",23,11,0.48,{"$nulls":3},"A有","12307A","ZNF844","chr19:12175667","m.122G>C(E1)","非编码区","rs564178735",0.0008,0.0072,0.0095,0.0049,0.013,0.0065,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNF844",1,220,"非编码区",14100,"0.42=17/40",null,284391,"19p13.2","NM_001136501.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14339",138,63,0.46,{"$nulls":3},"A有","12307A","ZNF844","chr19:12187020","c.1085G>A(E4)","p.362,R>K","rs79356129",0.02,0.082,0.1,0.063,0.055,0.14,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZNF844",1,220,"错义",12120,"0.46=107/232",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"]
["12307A(99)v31570",342,185,0.54,{"$nulls":3},"A有","12307A","ZNF845","chr19:53848779","c.36T>C(E3)","p.12,D>D","rs75887836",0.13,0.13,0.15,0.12,0.22,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF845",1,220,"同义",13203,"0.54=323/598",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"]
["12307A(99)v31568",411,200,0.49,{"$nulls":3},"A有","12307A","ZNF845","chr19:53848837","c.94C>T(E3)","p.32,L>L","rs56683540",0.13,0.13,0.14,0.12,0.14,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF845",1,220,"同义",13203,"0.48=382/800",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"]
["12307A(99)v31569",404,209,0.52,{"$nulls":3},"A有","12307A","ZNF845","chr19:53848845","c.102G>A(E3)","p.34,R>R","rs57319493",0.13,0.13,0.14,0.12,0.16,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF845",1,220,"同义",13203,"0.50=397/789",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"]
["12307A(99)v31567",159,74,0.47,{"$nulls":3},"A有","12307A","ZNF845","chr19:53854397","c.469G>C(E4)","p.157,E>Q","rs10415799",0.34,0.45,0.48,0.43,0.49,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF845",1,220,"错义",12220,"0.46=125/271",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"]
["12307A(99)v10973",14,7,0.5,{"$nulls":3},"A有","12307A","ZNF853","chr7:6656830","c.22G>A(E2)","p.8,G>R","rs2243563",0.74,0.76,0.76,0.76,0.72,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF853",0.71,16,"错义",12220,"0.44=11/25",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"]
["12307A(99)v10972",19,9,0.47,{"$nulls":3},"A有","12307A","ZNF853","chr7:6656897","c.89A>G(E2)","p.30,Q>R","rs1806552",0.77,0.76,0.76,0.77,0.74,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF853",0.71,16,"错义",12220,"0.41=13/32",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"]
["12307A(99)v11626",60,28,0.47,{"$nulls":3},"A有","12307A","ZNF860","chr3:32030544","m.522C>T(E2)","非编码区","rs11129475",0.39,0.28,0.27,0.29,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF860",1,220,"非编码区",14200,"0.41=35/86",null,344787,"3p23","NM_001137674.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11629",122,60,0.49,{"$nulls":3},"A有","12307A","ZNF860","chr3:32031024","c.453C>T(E2)","p.151,I>I","rs4449357",0.43,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF860",1,220,"同义",13203,"0.53=98/185",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11625",133,62,0.47,{"$nulls":3},"A有","12307A","ZNF860","chr3:32031135","c.564A>G(E2)","p.188,S>S","rs6419811",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF860",1,220,"同义",13203,"0.48=121/250",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11627",157,76,0.48,{"$nulls":3},"A有","12307A","ZNF860","chr3:32031615","c.1044A>C(E2)","p.348,E>D","rs13064905",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF860",1,220,"错义",12220,"0.49=125/256",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11623",162,80,0.49,{"$nulls":3},"A有","12307A","ZNF860","chr3:32031622","c.1051T>C(E2)","p.351,F>L","rs13087612",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF860",1,220,"错义",12210,"0.50=131/264",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11630",163,79,0.48,{"$nulls":3},"A有","12307A","ZNF860","chr3:32031643","c.1072A>G(E2)","p.358,T>A","rs13065048",0.47,0.42,0.43,0.41,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF860",1,220,"错义",12220,"0.49=123/252",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11622",136,75,0.55,{"$nulls":3},"A有","12307A","ZNF860","chr3:32031852","c.1281G>A(E2)","p.427,K>K","rs138977513",0.0074,0.036,0.029,0.044,0.04,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF860",1,220,"同义",13103,"0.53=129/242",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11624",112,39,0.35,{"$nulls":3},"A有","12307A","ZNF860","chr3:32031962","c.1391A>G(E2)","p.464,H>R","rs1808125",0.62,0.74,0.78,0.71,0.73,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF860",1,220,"错义",12220,"0.32=64/202",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11628",82,48,0.59,{"$nulls":3},"A有","12307A","ZNF860","chr3:32032397","c.1826G>T(E2)","p.609,R>L","rs4955216",0.43,0.28,0.27,0.29,0.27,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZNF860",1,220,"错义",12220,"0.55=74/134",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9991",20,5,0.25,{"$nulls":3},"A有","12307A","ZNF862","chr7:149543269","c.166C>T(E3)","p.56,R>C","rs62621204",0.18,0.22,0.25,0.19,0.23,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"错义",12220,"0.25=10/40",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"]
["12307A(99)v9993",54,40,0.74,{"$nulls":3},"A有","12307A","ZNF862","chr7:149556518","c.1125C>T(E6)","p.375,A>A","rs4725833",0.53,0.37,0.34,0.4,0.33,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"同义",13203,"0.77=79/103",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"]
["12307A(99)v9992",7,3,0.43,{"$nulls":3},"A有","12307A","ZNF862","chr7:149558409","c.2160G>C(E7)","p.720,L>L","rs2240361",0.38,0.33,0.33,0.33,0.24,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"同义",13203,"0.45=5/11",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"]
["12307A(99)v9995",23,11,0.48,{"$nulls":3},"A有","12307A","ZNF862","chr7:149559273","c.3024C>T(E7)","p.1008,L>L","rs2074700",0.37,0.33,0.33,0.33,0.28,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"同义",13203,"0.49=19/39",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"]
["12307A(99)v9994",29,17,0.59,{"$nulls":3},"A有","12307A","ZNF862","chr7:149559465","c.3216C>T(E7)","p.1072,G>G","rs2074701",0.44,0.33,0.33,0.33,0.29,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF862",0.99,69,"同义",13203,"0.50=23/46",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"]
["12307A(99)v12436",85,43,0.51,{"$nulls":3},"A有","12307A","ZNF879","chr5:178459283","c.334A>G(E5)","p.112,T>A","rs17078988",0.36,0.46,0.49,0.43,0.42,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF879",1,150,"错义",12220,"0.54=75/139",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"]
["12307A(99)v12437",103,48,0.47,{"$nulls":3},"A有","12307A","ZNF879","chr5:178459426","c.477A>C(E5)","p.159,E>D","rs17078991",0.36,0.46,0.49,0.43,0.43,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF879",1,150,"错义",12220,"0.48=80/168",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"]
["12307A(99)v26453",191,63,0.33,{"$nulls":3},"A有","12307A","ZNF880","chr19:52887146-52887146","c.313(E4):缺失A","缺失移码","rs398101268",{"$nulls":4},0.044,0.37,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,8,0,"ZNF880",1,210,"缺失移码",2130,"0.31=69/222",null,400713,"19q13.41","NM_001145434.1","位于基因组多拷贝区域+简单重复结构","非阳性"]
["12307A(99)v26452",198,46,0.23,{"$nulls":3},"A有","12307A","ZNF880","chr19:52887246-52887247","c.413(E4)至c.414(E4):插入CAA","插入非移码","rs71836013",{"$nulls":4},0.04,0.37,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"ZNF880",1,210,"插入非移码",2232,"0.22=51/229",null,400713,"19q13.41","NM_001145434.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26447",75,40,0.53,{"$nulls":3},"A有","12307A","ZNF880","chr19:52887427","c.594A>C(E4)","p.198,R>S","rs8104808",0.38,0.3,0.33,0.27,0.29,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF880",1,210,"错义",12220,"0.54=61/114",null,400713,"19q13.41","NM_001145434.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26448",70,35,0.5,{"$nulls":3},"A有","12307A","ZNF880","chr19:52887437","c.604A>C(E4)","p.202,N>H","rs8104812",0.38,0.3,0.33,0.27,0.3,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF880",1,210,"错义",12220,"0.50=55/109",null,400713,"19q13.41","NM_001145434.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26449",76,34,0.45,{"$nulls":3},"A有","12307A","ZNF880","chr19:52887904","c.1071T>C(E4)","p.357,C>C","rs2042913",{"$nulls":4},0.28,0.31,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"ZNF880",1,210,"同义",13303,"0.46=59/128",null,400713,"19q13.41","NM_001145434.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26451",129,62,0.48,{"$nulls":3},"A有","12307A","ZNF880","chr19:52888210","c.1377T>C(E4)","p.459,T>T","rs56151179",{"$nulls":4},0.29,0.35,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"ZNF880",1,210,"同义",13303,"0.52=118/227",null,400713,"19q13.41","NM_001145434.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26446",131,58,0.44,{"$nulls":3},"A有","12307A","ZNF880","chr19:52888245","c.1412A>G(E4)","p.471,K>R","rs55748277",0.41,0.31,0.34,0.27,0.29,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF880",1,210,"错义",12210,"0.43=96/224",null,400713,"19q13.41","NM_001145434.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v26450",64,34,0.53,{"$nulls":3},"A有","12307A","ZNF880","chr19:52888620","m.1836T>G(E4)","非编码区","rs3170100",0.42,0.31,0.34,0.27,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF880",1,210,"非编码区",14200,"0.52=46/89",null,400713,"19q13.41","NM_001145434.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11897",7,7,1,{"$nulls":3},"A有","12307A","ZNF883","chr9:115760587","m.1192G>A(E5)","非编码区","rs7036363",0.28,0.4,0.39,0.42,null,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF883",1,180,"非编码区",14200,"1.00=7/7",null,169834,"9q32","NM_001101338.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11896",4,4,1,{"$nulls":3},"A有","12307A","ZNF883","chr9:115760610","m.1169T>A(E5)","非编码区","rs11971",0.44,0.4,0.39,0.42,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF883",1,180,"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"]
["12307A(99)v9933",93,93,1,{"$nulls":3},"A有","12307A","ZNF90","chr19:20229486","c.1123G>A(E4)","p.375,G>S","rs1725935",0.23,0.5,0.45,0.56,0.55,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF90",1,190,"错义",12210,"0.99=154/155",null,7643,"19p12","NM_007138.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v9932",31,31,1,{"$nulls":3},"A有","12307A","ZNF90","chr19:20230264","m.2040T>A(E4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF90",1,190,"非编码区",14200,"1.00=47/47",null,7643,"19p12","NM_007138.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27304",47,26,0.55,{"$nulls":3},"A有","12307A","ZNF91","chr19:23542697","c.3084G>C(E4)","p.1028,G>G","rs1821845",0.43,0.21,0.22,0.2,0.19,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF91",1,120,"同义",13203,"0.55=42/76",null,7644,"19p12","NM_003430.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v27303",151,68,0.45,{"$nulls":3},"A有","12307A","ZNF91","chr19:23545250","c.531A>G(E4)","p.177,T>T","rs1044095",0.38,0.19,0.2,0.19,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF91",1,120,"同义",13203,"0.43=118/273",null,7644,"19p12","NM_003430.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28662",27,14,0.52,{"$nulls":3},"A有","12307A","ZNF92","chr7:64864894","m.1883C>T(E3)","非编码区","rs7796776",0.14,0.18,0.19,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF92",1,190,"非编码区",14200,"0.51=19/37",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"]
["12307A(99)v15028",94,53,0.56,{"$nulls":3},"A有","12307A","ZNF93","chr19:20011811","m.90T>C(E1)","非编码区","rs7253941",0.24,0.18,0.18,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF93",1,200,"非编码区",14200,"0.57=94/166",null,81931,"19p12","NM_031218.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15029",157,70,0.45,{"$nulls":3},"A有","12307A","ZNF93","chr19:20044041","c.277G>T(E4)","p.93,D>Y","rs12151060",0.19,0.46,0.46,0.45,0.35,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF93",1,200,"错义",12210,"0.48=120/252",null,81931,"19p12","NM_031218.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23176",126,58,0.46,{"$nulls":3},"A有","12307A","ZNF98","chr19:22574818","c.1219T>C(E4)","p.407,K>E","rs201005223",0.34,0.44,0.47,0.41,0.36,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"错义",12210,"0.42=98/235",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23175",125,70,0.56,{"$nulls":3},"A有","12307A","ZNF98","chr19:22575488","c.549C>T(E4)","p.183,K>K","rs7247735",0.4,0.46,0.49,0.42,0.46,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"同义",13203,"0.51=97/190",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23177",346,129,0.37,{"$nulls":3},"A有","12307A","ZNF98","chr19:22586192","c.153A>G(E2)","p.51,F>F","rs1368476",0.39,0.45,0.48,0.42,0.45,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"同义",13203,"0.32=196/608",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23174",48,29,0.6,{"$nulls":3},"A有","12307A","ZNF98","chr19:22605103","m.46G>C(E1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"非编码区",14200,"0.65=55/84",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v23173",40,24,0.6,{"$nulls":3},"A有","12307A","ZNF98","chr19:22605120","m.29G>T(E1)","非编码区","rs11669356",0.34,0.44,0.47,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,240,"非编码区",14200,"0.64=39/61",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v698",15,15,1,{"$nulls":3},"A有","12307A","ZNHIT2","chr11:64884052","c.1074G>A(E1)","p.358,A>A","rs1546532",0.89,0.9,0.91,0.9,0.84,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT2",0.78,5.8,"同义",13203,"1.00=17/17",null,741,"11q13","NM_014205.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15194",24,24,1,{"$nulls":3},"A有","12307A","ZNHIT3","chr17:34842521","m.49A>G(E1)","非编码区","rs4796224",0.51,0.46,0.49,0.44,null,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT3",1,160,"非编码区",14200,"1.00=44/44",null,9326,"17q12","NM_004773.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v17102",12,4,0.33,{"$nulls":3},"A有","12307A","ZNRF4","chr19:5455611","c.109C>T(E1)","p.37,P>S","rs2240743",0.53,0.76,0.76,0.76,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"错义",12220,"0.31=5/16",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"]
["12307A(99)v17100",4,2,0.5,{"$nulls":3},"A有","12307A","ZNRF4","chr19:5455796","c.294A>G(E1)","p.98,A>A","rs420325",0.73,0.87,0.85,0.88,0.68,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"同义",13203,"0.33=3/9",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"]
["12307A(99)v17099",4,2,0.5,{"$nulls":3},"A有","12307A","ZNRF4","chr19:5455971","c.469G>T(E1)","p.157,A>S","rs8103406",0.54,0.76,0.75,0.77,0.6,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"错义",12220,"0.43=3/7",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"]
["12307A(99)v17098",4,2,0.5,{"$nulls":3},"A有","12307A","ZNRF4","chr19:5455978","c.476T>C(E1)","p.159,V>A","rs8107825",0.54,0.76,0.75,0.77,0.61,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"错义",12220,"0.43=3/7",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"]
["12307A(99)v17097",4,2,0.5,{"$nulls":3},"A有","12307A","ZNRF4","chr19:5455990","c.488G>A(E1)","p.163,R>H","rs17304380",0.19,0.4,0.37,0.42,0.34,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"错义",12210,"0.50=3/6",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"]
["12307A(99)v17101",48,25,0.52,{"$nulls":3},"A有","12307A","ZNRF4","chr19:5456450","c.948T>C(E1)","p.316,Y>Y","rs8111108",0.7,0.87,0.84,0.89,0.86,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNRF4",1,24,"同义",13203,"0.51=41/80",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"]
["12307A(99)v28522",10,10,1,{"$nulls":3},"A有","12307A","ZP1","chr11:60635091","c.57T>C(E1)","p.19,V>V","rs550479",0.96,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,3,1,"ZP1",1,68,"同义",13203,"0.94=15/16",null,22917,"11q12.2","NM_207341.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28524",75,75,1,{"$nulls":3},"A有","12307A","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",1,68,"同义",13203,"1.00=126/126",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"]
["12307A(99)v28525",66,66,1,{"$nulls":3},"A有","12307A","ZP1","chr11:60638470","c.867A>G(E5)","p.289,V>V","rs566411",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,3,1,"ZP1",1,68,"同义",13203,"0.98=117/119",null,22917,"11q12.2","NM_207341.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11845",96,47,0.49,{"$nulls":3},"A有","12307A","ZP2","chr16:21213575","c.1137G>A(E11)","p.379,D>D","rs182866863",0.0006,0.0048,0.0095,0,0.013,0.0049,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZP2",1,210,"同义",13103,"0.49=79/160",null,7783,"16p12","NM_003460.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11844",104,104,1,{"$nulls":3},"A有","12307A","ZP2","chr16:21215672","c.747A>G(E8)","p.249,P>P","rs2075526",0.32,0.41,0.43,0.39,0.39,0.4,"纯合","无关","有rs号，MAF>=5%",19855393,{"$nulls":3},5,null,2,0,"ZP2",1,210,"同义",13203,"1.00=198/198",null,7783,"16p12","NM_003460.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21968",118,72,0.61,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ZP3",1,170,"错义",12220,"0.59=108/182",null,7784,"7q11.23","NM_001110354.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21967",95,22,0.23,{"$nulls":3},"A有","12307A","ZP3","chr7:76069937","IVS7+9C>T","非编码区","rs2906996",{"$nulls":5},0.3,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,2,0,"ZP3",1,170,"非编码区",16303,"0.23=34/149",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"]
["12307A(99)v14621",119,58,0.49,{"$nulls":3},"A有","12307A","ZP4","chr1:238050750","c.665G>T(E5)","p.222,A>E","rs140243550",3.8E-3,0.0072,0,0.015,0.025,0.023,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZP4",1,180,"错义",12120,"0.46=92/201",null,57829,"1q43","NM_021186.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v14620",64,32,0.5,{"$nulls":3},"A有","12307A","ZP4","chr1:238051793","c.418T>C(E4)","p.140,T>A","rs141504911",0.0054,0.014,0.0048,0.024,0.031,0.03,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZP4",1,180,"错义",12120,"0.51=53/104",null,57829,"1q43","NM_021186.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15749",66,66,1,{"$nulls":3},"A有","12307A","ZPBP","chr7:50023122","IVS6-7C>T","剪切位点","rs988392",0.78,0.88,0.88,0.89,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZPBP",0.94,340,"剪切位点",16202,"1.00=111/111",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"]
["12307A(99)v4535",68,38,0.56,{"$nulls":3},"A有","12307A","ZPBP2","chr17:38024839","c.90C>T(E2)","p.30,G>G","rs75027016",0.033,0.099,0.09,0.11,0.12,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZPBP2",1,260,"同义",13103,"0.56=58/103",null,124626,"17q12","NM_199321.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28942",197,197,1,{"$nulls":3},"A有","12307A","ZRANB1","chr10:126670356","c.1506G>A(E6)","p.502,Q>Q","rs17152433",0.26,0.2,0.2,0.21,0.23,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZRANB1",1,190,"同义",13203,"1.00=398/399",null,54764,"10q26.13","NM_017580.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v21839",122,59,0.48,{"$nulls":3},"A有","12307A","ZRANB2","chr1:71537943","IVS5-5A>G","剪切位点","rs11209745",0.36,0.75,0.72,0.79,null,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZRANB2",1,320,"剪切位点",16202,"0.46=79/172",null,9406,"1p31","NM_005455.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v4368",56,25,0.45,{"$nulls":3},"A有","12307A","ZRANB3","chr2:135965376","c.2637T>C(E19)","p.879,P>P","rs7578111",0.27,0.19,0.22,0.17,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"同义",13203,"0.41=38/92",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"]
["12307A(99)v4371",81,41,0.51,{"$nulls":3},"A有","12307A","ZRANB3","chr2:135988127","c.1910T>A(E13)","p.637,E>V","rs59900519",0.28,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"错义",12220,"0.56=72/129",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"]
["12307A(99)v4367",71,31,0.44,{"$nulls":3},"A有","12307A","ZRANB3","chr2:135988186","c.1851G>A(E13)","p.617,T>T","rs58917764",0.19,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"同义",13203,"0.50=61/122",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"]
["12307A(99)v4370",91,43,0.47,{"$nulls":3},"A有","12307A","ZRANB3","chr2:135988235","c.1802C>T(E13)","p.601,R>Q","rs76333606",0.077,0.079,0.081,0.078,0.088,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"错义",12220,"0.50=83/166",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"]
["12307A(99)v4369",40,18,0.45,{"$nulls":3},"A有","12307A","ZRANB3","chr2:135988416","c.1621C>T(E13)","p.541,E>K","rs935615",0.27,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,250,"错义",12220,"0.44=27/62",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"]
["12307A(99)v12828",259,125,0.48,{"$nulls":3},"A有","12307A","ZRSR2","chrX:15838366","c.864C>T(E10)","p.288,N>N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,270,"同义",13303,"0.50=246/492",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"]
["12307A(99)v21847",3,3,1,{"$nulls":3},"A有","12307A","ZSCAN1","chr19:58549366","c.162C>G(E3)","p.54,L>L","rs159870",0.64,0.47,0.41,0.54,0.37,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN1",1,22,"同义",13203,"1.00=3/3",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"]
["12307A(99)v21848",7,4,0.57,{"$nulls":3},"A有","12307A","ZSCAN1","chr19:58565431","m.1486C>T(E6)","非编码区","rs8104122",0.26,0.29,0.27,0.32,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN1",1,22,"非编码区",14200,"0.54=7/13",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"]
["12307A(99)v1466",108,55,0.51,{"$nulls":3},"A有","12307A","ZSCAN12","chr6:28358320","c.1747A>G(E4)","p.583,C>R","rs1361385",0.39,0.25,0.2,0.3,0.24,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN12",1,130,"错义",12210,"0.49=89/181",null,9753,"6p21","NM_001163391.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1465",102,48,0.47,{"$nulls":3},"A有","12307A","ZSCAN12","chr6:28358335","c.1732G>C(E4)","p.578,R>G","rs1416918",0.39,0.25,0.2,0.3,0.24,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN12",1,130,"错义",12220,"0.47=82/173",null,9753,"6p21","NM_001163391.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v1467",98,48,0.49,{"$nulls":3},"A有","12307A","ZSCAN12","chr6:28359170","c.897A>G(E4)","p.299,D>D","rs2859348",0.64,0.58,0.58,0.59,0.62,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN12",1,130,"同义",13203,"0.52=77/148",null,9753,"6p21","NM_001163391.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12161",8,5,0.62,{"$nulls":3},"A有","12307A","ZSCAN18","chr19:58600048","IVS3+7C>T","非编码区","rs1529329",0.27,0.36,0.34,0.37,null,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN18",0.81,22,"非编码区",16203,"0.50=5/10",null,65982,"19q13.43","NM_001145542.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v6418",134,134,1,{"$nulls":3},"A有","12307A","ZSCAN2","chr15:85149771","c.418G>T(E3)","p.140,V>F","rs2271433",0.91,0.95,0.93,0.97,0.95,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,100,"错义",12220,"1.00=285/285",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"]
["12307A(99)v6417",81,81,1,{"$nulls":3},"A有","12307A","ZSCAN2","chr15:85163998","c.572G>C(E3)","p.191,S>T","rs2044502",0.88,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,100,"错义",12220,"1.00=117/117",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"]
["12307A(99)v3668",51,50,0.98,{"$nulls":3},"A有","12307A","ZSCAN20","chr1:33957130","c.1272C>A(E6)","p.424,A>A","rs3795419",0.19,0.38,0.37,0.39,0.41,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,110,"同义",13203,"0.99=74/75",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"]
["12307A(99)v3669",53,53,1,{"$nulls":3},"A有","12307A","ZSCAN20","chr1:33957152","c.1294T>G(E6)","p.432,Y>D","rs4403594",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,110,"错义",12230,"1.00=80/80",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"]
["12307A(99)v3667",161,161,1,{"$nulls":3},"A有","12307A","ZSCAN20","chr1:33960062","c.2118A>G(E8)","p.706,A>A","rs9943259",0.75,0.75,0.76,0.75,0.79,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,110,"同义",13203,"1.00=257/257",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"]
["12307A(99)v3666",32,32,1,{"$nulls":3},"A有","12307A","ZSCAN20","chr1:33961147","m.3370T>G(E8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN20",1,110,"非编码区",14200,"1.00=49/49",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"]
["12307A(99)v18505",29,11,0.38,{"$nulls":3},"A有","12307A","ZSCAN21","chr7:99654600","m.115A>G(E2)","非编码区","rs11558475",0.31,0.49,0.5,0.48,null,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN21",1,120,"非编码区",14200,"0.40=16/40",null,7589,"7q22.1","NM_145914.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v18504",32,13,0.41,{"$nulls":3},"A有","12307A","ZSCAN21","chr7:99654689","c.60G>A(E2)","p.20,Q>Q","rs11558476",0.31,0.49,0.5,0.48,0.47,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN21",1,120,"同义",13203,"0.39=17/44",null,7589,"7q22.1","NM_145914.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v5322",112,112,1,{"$nulls":3},"A有","12307A","ZSCAN29","chr15:43661802","c.310T>C(E1)","p.104,R>G","rs3809482",0.55,0.5,0.48,0.53,0.45,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN29",1,120,"错义",12220,"1.00=193/193",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"]
["12307A(99)v16552",94,46,0.49,{"$nulls":3},"A有","12307A","ZSCAN4","chr19:58189287","c.402C>T(E4)","p.134,H>H","rs9676604",0.16,0.26,0.29,0.24,0.24,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN4",1,180,"同义",13203,"0.51=87/171",null,201516,"19q13.43","NM_152677.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v2372",13,13,1,{"$nulls":3},"A有","12307A","ZSCAN5B","chr19:56703248","c.559G>A(E2)","p.187,P>S","rs527025",0.25,0.29,0.26,0.32,0.27,0.29,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN5B",1,110,"错义",12210,"1.00=19/19",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"]
["12307A(99)v2373",39,31,0.79,{"$nulls":3},"A有","12307A","ZSCAN5B","chr19:56704101","c.321G>A(E1)","p.107,N>N","rs11084427",0.21,0.29,0.26,0.32,0.26,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN5B",1,110,"同义",13203,"0.75=42/56",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"]
["12307A(99)v14266",166,83,0.5,{"$nulls":3},"A有","12307A","ZSWIM2","chr2:187698751","c.750G>A(E6)","p.250,T>T","rs7559533",0.2,0.099,0.09,0.11,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM2",1,240,"同义",13203,"0.51=150/292",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"]
["12307A(99)v3608",72,35,0.49,{"$nulls":3},"A有","12307A","ZSWIM3","chr20:44505830","c.633C>T(E2)","p.211,T>T","rs61733888",0.088,0.089,0.086,0.092,0.04,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,76,"同义",13203,"0.47=54/115",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"]
["12307A(99)v3611",44,21,0.48,{"$nulls":3},"A有","12307A","ZSWIM3","chr20:44505973","c.776T>C(E2)","p.259,V>A","rs2903808",0.56,0.55,0.55,0.56,0.51,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,76,"错义",12220,"0.47=30/64",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"]
["12307A(99)v3609",21,11,0.52,{"$nulls":3},"A有","12307A","ZSWIM3","chr20:44506661","c.1464G>A(E2)","p.488,P>P","rs17446462",0.088,0.089,0.086,0.092,0.041,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,76,"同义",13203,"0.50=14/28",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"]
["12307A(99)v3610",18,9,0.5,{"$nulls":3},"A有","12307A","ZSWIM3","chr20:44507307","m.2355T>C(E2)","非编码区","rs17446511",0.088,0.089,0.086,0.092,null,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,76,"非编码区",14200,"0.45=13/29",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"]
["12307A(99)v21510",83,82,0.99,{"$nulls":3},"A有","12307A","ZSWIM6","chr5:60839907","c.3411C>A(E14)","p.1137,P>P","rs16892374",0.075,0.13,0.14,0.13,0.14,0.13,"纯合","无关","有rs号，MAF>=5%",null,"肢端额鼻骨发育不良","AD",603671,5,1,1,1,"ZSWIM6",0.9,150,"同义",13203,"0.99=142/143",null,57688,"5q12.1","NM_020928.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11862",138,74,0.54,{"$nulls":3},"A有","12307A","ZUFSP","chr6:116966901","c.1665A>C(E9)","p.555,G>G","rs374689423",0.0004,0,0,0,null,0.00081,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZUFSP",1,280,"同义",13103,"0.57=126/222",null,221302,"6q22.1","NM_145062.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v11861",195,102,0.52,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,2,0,"ZUFSP",1,280,"错义",12220,"0.49=161/327",null,221302,"6q22.1","NM_145062.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28608",167,86,0.51,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,1,0,"ZW10",1,220,"同义",13103,"0.48=151/313",null,9183,"11q23.2","NM_004724.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v28485",149,74,0.5,{"$nulls":3},"A有","12307A","ZWILCH","chr15:66821250","c.1030A>G(E11)","p.344,S>G","rs11071896",0.18,0.14,0.17,0.12,0.14,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZWILCH",1,310,"错义",12220,"0.47=127/273",null,55055,"15q22.31","NM_017975.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25512",75,75,1,{"$nulls":3},"A有","12307A","ZWINT","chr10:58118630","c.559T>C(E6)","p.187,R>G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,1,0,"ZWINT",1,94,"错义",12210,"1.00=132/132",null,11130,"10q21-q22","NM_007057.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v15446",107,107,1,{"$nulls":3},"A有","12307A","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",{"$nulls":4},4,null,1,0,"ZXDB",0.72,110,"同义",13303,"0.99=192/193",null,158586,"Xp11.21","NM_007157.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v25530",23,23,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ZXDC",0.79,61,"剪切位点",16202,"1.00=23/23",null,79364,"3q21.3","NM_001040653.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v12395",110,55,0.5,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ZYG11A",1,190,"错义",12220,"0.48=88/185",null,440590,"1p32.3","NM_001004339.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v30008",80,80,1,{"$nulls":3},"A有","12307A","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%",{"$nulls":4},5,null,1,0,"ZYG11B",1,210,"同义",13203,"0.97=144/148",null,79699,"1p32.3","NM_024646.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12307A(99)v24500",70,70,1,{"$nulls":3},"A有","12307A","ZZEF1","chr17:3916823","c.8499G>A(E52)","p.2833,G>G","rs8075562",0.2,0.07,0.062,0.078,0.085,0.076,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZZEF1",0.98,140,"同义",13203,"0.99=129/130",null,23140,"17p13.2","NM_015113.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["12307A(99)v24502",80,79,0.99,{"$nulls":3},"A有","12307A","ZZEF1","chr17:3926110","c.7105C>G(E44)","p.2369,E>Q","rs711177",0.14,0.07,0.062,0.078,0.087,0.078,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZZEF1",0.98,140,"错义",12220,"0.98=125/128",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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