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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)"]
["12309A(99)v6768",23,1,0.04,"12309A","A1BG","chr19:58864811","m.55G>A(E1)","非编码区","rs199736604",0.0004,0,0,0,null,0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A1BG",0.74,13,"非编码区",14100,"0.16=6/37","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12309A(99)v6769",14,14,1,"12309A","A1BG","chr19:58864479","c.155T>C(E3)","p.52,H>R","rs893184",0.85,0.92,0.94,0.89,0.82,0.91,"纯合","无关","有rs号，MAF>=5%",23690342,{"$nulls":3},5,null,4,0,"A1BG",0.74,13,"错义",12220,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12309A(99)v6770",14,7,0.5,"12309A","A1BG","chr19:58864497","c.137G>A(E3)","p.46,T>M","rs201279119",0.0002,0,0,0,null,0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"A1BG",0.74,13,"错义",12110,"0.59=13/22","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12309A(99)v6771",5,5,1,"12309A","A1BG","chr19:58858232-58858232","m.1706(E8):缺失C","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"A1BG",0.74,13,"非编码区",2420,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786.3"]
["12309A(99)v8497",91,47,0.52,"12309A","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,"0.50=100/200","位于基因组单拷贝区域+DNA结构正常",29974,"10q11.23","NM_001198818.1"]
["12309A(99)v16322",112,110,0.98,"12309A","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",104300,3,1,3,2,"A2M",1,240,"错义",12330,"0.99=197/199","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12309A(99)v16322",112,110,0.98,"12309A","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",614036,3,1,3,2,"A2M",1,240,"错义",12330,"0.99=197/199","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12309A(99)v16323",109,49,0.45,"12309A","A2M","chr12:9232268","c.2998T>C(E24)","p.1000,I>V","rs669",null,0.089,0.081,0.097,0.075,0.093,"杂合","未知","蛋白结构预测结果为容忍或无害","18191876;21122033;23186781;23238918;24756728;2581245;15611997;17974005;15489334;1707161","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,3,2,"A2M",1,240,"错义",12320,"0.46=90/195","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12309A(99)v16323",109,49,0.45,"12309A","A2M","chr12:9232268","c.2998T>C(E24)","p.1000,I>V","rs669",null,0.089,0.081,0.097,0.075,0.093,"杂合","未知","蛋白结构预测结果为容忍或无害","18191876;21122033;23186781;23238918;24756728;2581245;15611997;17974005;15489334;1707161","α2-巨球蛋白缺乏症","AD",614036,3,1,3,2,"A2M",1,240,"错义",12320,"0.46=90/195","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12309A(99)v16324",98,47,0.48,"12309A","A2M","chr12:9268473","m.86A>C(E1)","非编码区","rs226380",null,0.12,0.11,0.13,0.14,0.13,"杂合","未知","UTR突变可能影响蛋白翻译",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,3,2,"A2M",1,240,"非编码区",14300,"0.45=71/158","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12309A(99)v16324",98,47,0.48,"12309A","A2M","chr12:9268473","m.86A>C(E1)","非编码区","rs226380",null,0.12,0.11,0.13,0.14,0.13,"杂合","未知","UTR突变可能影响蛋白翻译",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,3,2,"A2M",1,240,"非编码区",14300,"0.45=71/158","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014.4"]
["12309A(99)v24289",77,77,1,"12309A","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,8,0,"A2ML1",1,180,"错义",12320,"1.00=137/137","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12309A(99)v24290",39,19,0.49,"12309A","A2ML1","chr12:9010671","c.3237G>A(E26)","p.1079,V>V","rs11612600",null,0.14,0.13,0.14,0.17,0.17,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"A2ML1",1,180,"同义",13303,"0.47=30/64","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12309A(99)v24291",85,85,1,"12309A","A2ML1","chr12:9004892","c.2550C>A(E20)","p.850,D>E","rs1860926",null,1,1,1,0.99,1,"纯合","未知","未知",{"$nulls":4},3,null,8,0,"A2ML1",1,180,"错义",12330,"1.00=136/136","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12309A(99)v24292",117,117,1,"12309A","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",{"$nulls":4},4,null,8,0,"A2ML1",1,180,"同义",13303,"1.00=230/230","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12309A(99)v24293",92,91,0.99,"12309A","A2ML1","chr12:9020912","c.4020A>G(E31)","p.1340,Q>Q","rs1476910",null,0.48,0.48,0.48,0.5,0.5,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"A2ML1",1,180,"同义",13303,"0.99=159/160","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12309A(99)v24294",59,30,0.51,"12309A","A2ML1","chr12:8995966","IVS12+9G>A","非编码区","rs7136813",null,0.1,0.081,0.12,null,0.12,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,8,0,"A2ML1",1,180,"非编码区",16303,"0.48=42/88","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12309A(99)v24295",192,92,0.48,"12309A","A2ML1","chr12:9013755","c.3364C>T(E28)","p.1122,R>W","rs1860967",null,0.83,0.83,0.83,0.77,0.78,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"A2ML1",1,180,"错义",12320,"0.47=169/360","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12309A(99)v24296",63,63,1,"12309A","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",{"$nulls":4},3,null,8,0,"A2ML1",1,180,"错义",12330,"1.00=94/94","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670.4"]
["12309A(99)v16627",16,9,0.56,"12309A","A4GALT","chr22:43089055","c.903G>C(E3)","p.301,P>P","rs6002904",0.7,0.68,0.69,0.67,0.65,0.72,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,2,1,"A4GALT",1,19,"同义",13203,"0.57=20/35","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436.4"]
["12309A(99)v16628",7,1,0.14,"12309A","A4GALT","chr22:43088954","c.1004G>A(E3)","p.335,A>V",{"$nulls":5},0.0008,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"血型, P 系统",null,111400,3,2,2,1,"A4GALT",1,19,"错义",12420,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436.4"]
["12309A(99)v31",81,33,0.41,"12309A","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%",{"$nulls":4},5,null,4,0,"A4GNT",1,120,"错义",12220,"0.38=46/121","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12309A(99)v32",13,6,0.46,"12309A","A4GNT","chr3:137843018","m.1313G>C(E3)","非编码区","rs1564496",null,0.69,0.68,0.71,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A4GNT",1,120,"非编码区",14300,"0.46=6/13","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12309A(99)v33",46,16,0.35,"12309A","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%",{"$nulls":4},5,null,4,0,"A4GNT",1,120,"同义",13203,"0.28=21/76","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12309A(99)v34",73,33,0.45,"12309A","A4GNT","chr3:137850003","c.96A>G(E2)","p.32,C>C","rs2724691",0.61,0.6,0.6,0.6,0.54,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"A4GNT",1,120,"同义",13203,"0.46=50/108","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161.2"]
["12309A(99)v18138",37,37,1,"12309A","AAAS","chr12:53703021","c.756G>A(E8)","p.252,F>F","rs1546808",0.92,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,92,"同义",13203,"1.00=56/56","位于基因组单拷贝区域+DNA结构正常",8086,"12q13","NM_001173466.1"]
["12309A(99)v18139",223,2,0.01,"12309A","AAAS","chr12:53709548-53709548","c.270(E3):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"弛缓不能Addison病无泪腺症综合征","AR",231550,1,3,2,1,"AAAS",1,92,"缺失移码",2140,"0.01=2/258","位于基因组单拷贝区域+简单重复结构",8086,"12q13","NM_001173466.1"]
["12309A(99)v4",4,2,0.5,"12309A","AACS","chr12:125627053","m.2503C>T(E18)","非编码区","rs11058046",0.22,0.43,0.43,0.43,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AACS",1,100,"非编码区",14200,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928.3"]
["12309A(99)v5",7,1,0.14,"12309A","AACS","chr12:125550003","m.79C>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,3,0,"AACS",1,100,"非编码区",14400,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928.3"]
["12309A(99)v6",15,6,0.4,"12309A","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%",{"$nulls":4},5,null,3,0,"AACS",1,100,"非编码区",16203,"0.37=7/19","位于基因组多拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928.3"]
["12309A(99)v12432",132,60,0.45,"12309A","AADACL2","chr3:151463421","c.556G>T(E4)","p.186,A>S","rs1972977",0.71,0.62,0.68,0.57,0.61,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AADACL2",1,210,"错义",12220,"0.45=104/233","位于基因组单拷贝区域+DNA结构正常",344752,"3q25.1","NM_207365.3"]
["12309A(99)v6505",125,61,0.49,"12309A","AADACL3","chr1:12785494","c.374G>T(E3)","p.125,C>F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"错义",12210,"0.50=101/201","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12309A(99)v6506",85,43,0.51,"12309A","AADACL3","chr1:12779618","c.139T>C(E2)","p.47,S>P","rs3010877",0.85,0.8,0.8,0.79,0.81,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"错义",12220,"0.50=60/121","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170.1"]
["12309A(99)v6507",84,45,0.54,"12309A","AADACL3","chr1:12779560","c.81T>C(E2)","p.27,D>D","rs3010876",0.85,0.79,0.8,0.79,0.79,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"同义",13203,"0.52=72/138","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170.1"]
["12309A(99)v6508",42,20,0.48,"12309A","AADACL3","chr1:12776218","m.101A>C(E1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"非编码区",14200,"0.52=33/63","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12309A(99)v6509",3,3,1,"12309A","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%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103169.1"]
["12309A(99)v29511",117,55,0.47,"12309A","AADAT","chr4:170994350","c.591A>G(E5)","p.197,V>V","rs12640652",0.0094,0.053,0.048,0.058,0.04,0.033,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"AADAT",1,300,"同义",13103,"0.43=96/222","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228.3"]
["12309A(99)v29512",173,172,0.99,"12309A","AADAT","chr4:170987636","IVS9-7A>G","剪切位点","rs1480544",0.74,1,1,1,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AADAT",1,300,"剪切位点",16202,"1.00=318/319","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228.3"]
["12309A(99)v29513",219,63,0.29,"12309A","AADAT","chr4:170991812-170991815","IVS5-9至IVS5-12:缺失GGTT","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"AADAT",1,300,"非编码区",2500,"0.28=71/256","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228.3"]
["12309A(99)v30686",6,3,0.5,"12309A","AAGAB","chr15:67494922","m.1290T>C(E10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,2,1,"AAGAB",1,300,"非编码区",14200,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666.3"]
["12309A(99)v30687",197,95,0.48,"12309A","AAGAB","chr15:67528374","c.394T>G(E4)","p.132,I>L","rs7173826",0.36,0.63,0.63,0.64,0.62,0.66,"杂合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,2,1,"AAGAB",1,300,"错义",12220,"0.46=161/351","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666.3"]
["12309A(99)v19766",65,64,0.98,"12309A","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%",{"$nulls":4},5,null,2,0,"AAK1",1,180,"错义",12230,"0.99=103/104","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12309A(99)v19767",14,13,0.93,"12309A","AAK1","chr2:69741609","c.1770C>T(E13)","p.590,E>E","rs2276689",0.32,0.52,0.53,0.51,0.45,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAK1",1,180,"同义",13203,"0.95=20/21","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911.3"]
["12309A(99)v9055",229,106,0.46,"12309A","AAMDC","chr11:77553638","c.96T>C(E2)","p.32,G>G","rs585721",0.39,0.31,0.34,0.27,0.24,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAMDC",1,270,"同义",13203,"0.47=183/393","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_024684.2"]
["12309A(99)v9056",131,69,0.53,"12309A","AAMDC","chr11:77583266","c.274G>A(E4)","p.92,V>M","rs2186564",0.14,0.2,0.2,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAMDC",1,270,"错义",12220,"0.53=130/244","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_024684.2"]
["12309A(99)v30114",12,12,1,"12309A","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=13/13","位于基因组单拷贝区域+DNA结构正常",14,"2q35","NM_001087.3"]
["12309A(99)v23847",38,38,1,"12309A","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",1,140,"同义",13203,"1.00=55/55","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605.2"]
["12309A(99)v23848",40,18,0.45,"12309A","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",1,140,"同义",13203,"0.52=37/71","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605.2"]
["12309A(99)v14148",15,15,1,"12309A","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",1,53,"同义",13303,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14148",15,15,1,"12309A","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",1,53,"同义",13303,"1.00=25/25","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14149",15,6,0.4,"12309A","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",1,53,"剪切位点",16202,"0.41=9/22","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14149",15,6,0.4,"12309A","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",1,53,"剪切位点",16202,"0.41=9/22","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14150",3,3,1,"12309A","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",1,53,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14150",3,3,1,"12309A","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",1,53,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14151",11,11,1,"12309A","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",1,53,"错义",12230,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14151",11,11,1,"12309A","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",1,53,"错义",12230,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14152",14,8,0.57,"12309A","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",1,53,"同义",13203,"0.55=11/20","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v14152",14,8,0.57,"12309A","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",1,53,"同义",13203,"0.55=11/20","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745.3"]
["12309A(99)v6378",85,85,1,"12309A","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",1,160,"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"]
["12309A(99)v12378",129,67,0.52,"12309A","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%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.48=107/225","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12309A(99)v12379",155,83,0.54,"12309A","AASDH","chr4:57250285","c.181T>C(E2)","p.61,I>V","rs34543011",0.065,0.18,0.21,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.54=136/251","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12309A(99)v12380",162,77,0.48,"12309A","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%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"同义",13203,"0.43=122/285","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12309A(99)v12381",99,50,0.51,"12309A","AASDH","chr4:57221348","c.1103T>C(E6)","p.368,K>R","rs3796543",0.065,0.18,0.21,0.16,0.2,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.47=68/145","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12309A(99)v12382",155,77,0.5,"12309A","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%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.45=126/282","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12309A(99)v12383",154,68,0.44,"12309A","AASDH","chr4:57248716","c.278G>C(E3)","p.93,P>R","rs34228795",0.065,0.18,0.21,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12210,"0.44=126/286","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12309A(99)v12384",155,74,0.48,"12309A","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%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"同义",13203,"0.43=114/266","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806.2"]
["12309A(99)v24102",3,3,1,"12309A","AATK","chr17:79095144","c.2592G>A(E11)","p.864,A>A","rs8073904",0.81,0.86,0.87,0.85,0.71,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AATK",0.86,5.2,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395.2"]
["12309A(99)v24103",16,1,0.06,"12309A","AATK","chr17:79101609","c.516C>A(E5)","p.172,E>D",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AATK",0.86,5.2,"错义",12410,"0.12=4/32","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395.2"]
["12309A(99)v24104",4,1,0.25,"12309A","AATK","chr17:79094467","c.3269C>A(E11)","p.1090,R>L",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"AATK",0.86,5.2,"错义",12420,"0.36=4/11","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395.2"]
["12309A(99)v30425",22,9,0.41,"12309A","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",613163,5,3,5,1,"ABAT",1,130,"同义",13203,"0.40=12/30","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12309A(99)v30426",189,97,0.51,"12309A","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",613163,5,3,5,1,"ABAT",1,130,"剪切位点",16202,"0.49=167/344","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12309A(99)v30427",49,49,1,"12309A","ABAT","chr16:8873456","IVS15+9T>C","非编码区","rs1079348",0.35,0.33,0.35,0.32,0.34,0.36,"纯合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,1,5,1,"ABAT",1,130,"非编码区",16203,"1.00=71/71","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12309A(99)v30428",2,2,1,"12309A","ABAT","chr16:8875545","m.2699G>C(E16)","非编码区","rs737695",0.32,0.32,0.33,0.32,null,null,"纯合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,1,5,1,"ABAT",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",18,"16p13.2","NM_000663.4"]
["12309A(99)v30429",107,58,0.54,"12309A","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",613163,5,3,5,1,"ABAT",1,130,"错义",12220,"0.53=103/193","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663.4"]
["12309A(99)v28254",25,11,0.44,"12309A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,3,4,3,"ABCA1",1,170,"同义",13203,"0.41=14/34","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28254",25,11,0.44,"12309A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,4,3,"ABCA1",1,170,"同义",13203,"0.41=14/34","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28254",25,11,0.44,"12309A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"原发性α低脂蛋白血症",null,604091,5,2,4,3,"ABCA1",1,170,"同义",13203,"0.41=14/34","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28255",40,20,0.5,"12309A","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",1,170,"非编码区",14200,"0.51=28/55","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28255",40,20,0.5,"12309A","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",1,170,"非编码区",14200,"0.51=28/55","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28255",40,20,0.5,"12309A","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",1,170,"非编码区",14200,"0.51=28/55","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28256",132,132,1,"12309A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"纯合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","丹吉尔病","AR",205400,5,1,4,3,"ABCA1",1,170,"错义",12220,"1.00=216/216","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28256",132,132,1,"12309A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"纯合","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",1,170,"错义",12220,"1.00=216/216","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28256",132,132,1,"12309A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"纯合","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,604091,5,1,4,3,"ABCA1",1,170,"错义",12220,"1.00=216/216","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28257",19,11,0.58,"12309A","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",1,170,"非编码区",2420,"0.60=12/20","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28257",19,11,0.58,"12309A","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",1,170,"非编码区",2420,"0.60=12/20","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v28257",19,11,0.58,"12309A","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",1,170,"非编码区",2420,"0.60=12/20","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502.3"]
["12309A(99)v26140",129,59,0.46,"12309A","ABCA10","chr17:67215712","c.504C>T(E7)","p.168,V>V","rs12941264",0.6,0.31,0.36,0.26,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"同义",13203,"0.47=100/212","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v26141",85,44,0.52,"12309A","ABCA10","chr17:67210992","c.859T>C(E10)","p.287,I>V","rs11657804",0.26,0.25,0.29,0.21,0.18,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"错义",12220,"0.55=70/128","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v26142",166,62,0.37,"12309A","ABCA10","chr17:67212423","c.607G>A(E8)","p.203,P>S","rs9909216",0.58,0.31,0.36,0.27,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"错义",12220,"0.37=120/324","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v26143",3,2,0.67,"12309A","ABCA10","chr17:67144684","m.5795T>A(E40)","非编码区","rs1974577",0.71,0.47,0.51,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"非编码区",14200,"0.75=3/4","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v26144",181,96,0.53,"12309A","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%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"错义",12220,"0.53=160/300","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v26145",2,2,1,"12309A","ABCA10","chr17:67144628","m.5851C>A(E40)","非编码区","rs1974576",0.71,0.47,0.51,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v26146",82,32,0.39,"12309A","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%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"非编码区",14200,"0.39=51/131","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v26147",63,25,0.4,"12309A","ABCA10","chr17:67178954","IVS21-5C>T","剪切位点","rs4968851",0.69,0.47,0.51,0.44,0.38,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"剪切位点",16202,"0.36=39/108","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v26148",135,69,0.51,"12309A","ABCA10","chr17:67212031","c.783A>G(E9)","p.261,Y>Y","rs11077414",null,0.31,0.36,0.27,0.27,0.3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ABCA10",1,300,"同义",13303,"0.50=120/239","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282.3"]
["12309A(99)v25668",273,273,1,"12309A","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",601277,5,1,4,2,"ABCA12",1,280,"同义",13203,"1.00=519/520","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076.2"]
["12309A(99)v25668",273,273,1,"12309A","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",242500,5,1,4,2,"ABCA12",1,280,"同义",13203,"1.00=519/520","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076.2"]
["12309A(99)v25669",69,69,1,"12309A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,1,4,2,"ABCA12",1,280,"错义",12220,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12309A(99)v25669",69,69,1,"12309A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,1,4,2,"ABCA12",1,280,"错义",12220,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12309A(99)v25670",89,89,1,"12309A","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",601277,5,1,4,2,"ABCA12",1,280,"同义",13203,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12309A(99)v25670",89,89,1,"12309A","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",242500,5,1,4,2,"ABCA12",1,280,"同义",13203,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12309A(99)v25671",31,23,0.74,"12309A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,3,4,2,"ABCA12",1,280,"非编码区",2600,"0.76=25/33","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12309A(99)v25671",31,23,0.74,"12309A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,4,2,"ABCA12",1,280,"非编码区",2600,"0.76=25/33","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_015657.3"]
["12309A(99)v19917",83,38,0.46,"12309A","ABCA13","chr7:48506566","c.12829A>G(E44)","p.4277,N>D","rs4917152",0.23,0.22,0.18,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"错义",12220,"0.42=55/130","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19918",58,27,0.47,"12309A","ABCA13","chr7:48313949","c.4686C>T(E17)","p.1562,Y>Y","rs6583483",0.13,0.2,0.14,0.25,0.19,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"同义",13203,"0.46=37/80","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19919",42,21,0.5,"12309A","ABCA13","chr7:48450157","c.12111T>C(E40)","p.4037,A>A","rs17548783",0.46,0.64,0.59,0.69,0.61,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"同义",13203,"0.56=41/73","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19920",58,22,0.38,"12309A","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%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"同义",13203,"0.36=34/95","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19921",114,53,0.46,"12309A","ABCA13","chr7:48237824","IVS2-10C>T","剪切位点","rs17060",0.22,0.31,0.31,0.3,null,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"剪切位点",16202,"0.50=92/185","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19922",76,76,1,"12309A","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%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"错义",12220,"1.00=107/107","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19923",123,59,0.48,"12309A","ABCA13","chr7:48314279","c.5016G>A(E17)","p.1672,K>K","rs6955212",0.19,0.25,0.19,0.31,0.28,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"同义",13203,"0.50=97/194","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19924",110,54,0.49,"12309A","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%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"错义",12220,"0.49=88/180","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19925",87,42,0.48,"12309A","ABCA13","chr7:48315796","c.6533C>A(E17)","p.2178,A>E","rs1880736",0.81,0.99,1,0.98,0.98,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"错义",12220,"0.48=61/127","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19926",52,23,0.44,"12309A","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%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"剪切位点",16202,"0.45=38/85","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19927",191,94,0.49,"12309A","ABCA13","chr7:48336844","c.9135C>T(E22)","p.3045,L>L","rs6583546",0.77,0.99,1,0.98,0.99,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"同义",13203,"0.45=151/335","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19928",86,40,0.47,"12309A","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%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"错义",12210,"0.41=53/130","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19929",165,84,0.51,"12309A","ABCA13","chr7:48311563","c.2300T>G(E17)","p.767,I>S","rs17712293",0.19,0.25,0.19,0.31,0.28,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"错义",12210,"0.49=121/245","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19930",198,94,0.47,"12309A","ABCA13","chr7:48311485","c.2222A>C(E17)","p.741,E>A","rs117022697",0.013,0.091,0.067,0.12,0.094,0.087,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,21,0,"ABCA13",1,190,"错义",12110,"0.47=173/369","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19931",137,64,0.47,"12309A","ABCA13","chr7:48682996","IVS60+7C>G","非编码区","rs28610321",0.17,0.26,0.24,0.28,null,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"非编码区",16203,"0.46=102/221","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19932",58,27,0.47,"12309A","ABCA13","chr7:48280454","IVS9-10G>A","剪切位点","rs62449168",0.12,0.2,0.15,0.25,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"剪切位点",16202,"0.40=36/89","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19933",99,47,0.47,"12309A","ABCA13","chr7:48506642","c.12905A>G(E44)","p.4302,Q>R","rs4917153",0.23,0.22,0.18,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"错义",12220,"0.50=78/157","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19934",54,29,0.54,"12309A","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%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"剪切位点",16202,"0.53=45/85","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19935",104,52,0.5,"12309A","ABCA13","chr7:48287840","c.1664G>A(E14)","p.555,R>H","rs2361519",0.2,0.19,0.14,0.25,0.21,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"错义",12220,"0.53=89/167","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19936",168,77,0.46,"12309A","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,21,0,"ABCA13",1,190,"同义",13403,"0.45=129/287","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v19937",144,6,0.04,"12309A","ABCA13","chr7:48684205-48684205","IVS60-8:缺失G","非编码区","rs373891233",{"$nulls":6},"杂合","无关","内含子突变",{"$nulls":4},5,null,21,0,"ABCA13",1,190,"非编码区",2500,"0.04=6/153","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701.3"]
["12309A(99)v11472",14,14,1,"12309A","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%",{"$nulls":4},5,null,7,0,"ABCA2",0.92,14,"同义",13203,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12309A(99)v11473",10,1,0.1,"12309A","ABCA2","chr9:139904263","c.6588G>T(E43)","p.2196,S>S",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"ABCA2",0.92,14,"同义",13403,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12309A(99)v11474",13,13,1,"12309A","ABCA2","chr9:139913239","c.1751T>G(E13)","p.584,H>P","rs908828",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABCA2",0.92,14,"错义",12230,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12309A(99)v11475",7,3,0.43,"12309A","ABCA2","chr9:139908442","c.4289A>G(E28)","p.1430,L>P",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"ABCA2",0.92,14,"错义",12410,"0.55=6/11","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12309A(99)v11476",25,25,1,"12309A","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%",{"$nulls":4},5,null,7,0,"ABCA2",0.92,14,"同义",13203,"1.00=38/38","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12309A(99)v11477",15,15,1,"12309A","ABCA2","chr9:139912484","c.2037A>G(E15)","p.679,D>D","rs908832",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%","15649702;16752360",{"$nulls":3},5,null,7,0,"ABCA2",0.92,14,"同义",13203,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12309A(99)v11478",7,4,0.57,"12309A","ABCA2","chr9:139907219","c.5026C>T(E31)","p.1676,G>S","rs184422644",2.8E-3,0.012,0.014,0.0097,0.011,0.0095,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"ABCA2",0.92,14,"错义",12110,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606.4"]
["12309A(99)v15967",5,1,0.2,"12309A","ABCA3","chr16:2347784","c.2035G>T(E16)","p.679,L>I",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"肺泡蛋白沉着症3型","AR",610921,3,3,3,1,"ABCA3",1,49,"错义",12420,"0.25=2/8","位于基因组多拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12309A(99)v15968",38,38,1,"12309A","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",610921,5,1,3,1,"ABCA3",1,49,"同义",13203,"1.00=64/64","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12309A(99)v15969",24,11,0.46,"12309A","ABCA3","chr16:2367336","c.1059G>A(E10)","p.353,F>F","rs13332514",0.19,0.38,0.39,0.37,0.35,0.38,"杂合","无关","有rs号，MAF>=5%","18246475;18317237","肺泡蛋白沉着症3型","AR",610921,5,3,3,1,"ABCA3",1,49,"同义",13203,"0.39=17/44","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089.2"]
["12309A(99)v14981",130,130,1,"12309A","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",248200,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14981",130,130,1,"12309A","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,601718,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14981",130,130,1,"12309A","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",613341,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14981",130,130,1,"12309A","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",153800,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14981",130,130,1,"12309A","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,604116,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14982",140,138,0.99,"12309A","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",248200,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14982",140,138,0.99,"12309A","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,601718,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14982",140,138,0.99,"12309A","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",613341,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14982",140,138,0.99,"12309A","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",153800,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14982",140,138,0.99,"12309A","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,604116,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14983",34,19,0.56,"12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14983",34,19,0.56,"12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14983",34,19,0.56,"12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14983",34,19,0.56,"12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v14983",34,19,0.56,"12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350.2"]
["12309A(99)v19636",170,170,1,"12309A","ABCA5","chr17:67273882","c.2494C>A(E18)","p.832,A>S","rs536009",0.8,0.95,0.95,0.96,0.89,0.95,"纯合","无关","有rs号，MAF>=5%",24957074,{"$nulls":3},5,null,3,0,"ABCA5",1,310,"错义",12220,"1.00=318/318","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12309A(99)v19637",126,54,0.43,"12309A","ABCA5","chr17:67257281","c.3549C>T(E25)","p.1183,L>L","rs78349182",0.03,0.0048,0,0.0097,0.0052,0.0041,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ABCA5",1,310,"同义",13103,"0.38=87/230","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12309A(99)v19638",171,168,0.98,"12309A","ABCA5","chr17:67260926","c.3265A>G(E23)","p.1089,L>L","rs12449649",0.38,0.39,0.42,0.35,0.29,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCA5",1,310,"同义",13203,"0.99=298/302","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672.3"]
["12309A(99)v2336",284,284,1,"12309A","ABCA6","chr17:67101718","c.2625C>T(E20)","p.875,M>I","rs7212506",0.75,0.85,0.86,0.84,0.86,0.85,"纯合","无关","有rs号，MAF>=5%",17486107,{"$nulls":3},5,null,4,0,"ABCA6",1,290,"错义",12220,"1.00=488/490","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12309A(99)v2337",142,63,0.44,"12309A","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%",{"$nulls":4},5,null,4,0,"ABCA6",1,290,"错义",12210,"0.41=113/279","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12309A(99)v2338",135,67,0.5,"12309A","ABCA6","chr17:67075072","m.5071G>A(E39)","非编码区","rs2302290",0.61,0.27,0.32,0.21,null,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,290,"非编码区",14200,"0.48=103/216","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12309A(99)v2339",197,93,0.47,"12309A","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%",{"$nulls":4},5,null,4,0,"ABCA6",1,290,"错义",12220,"0.47=175/374","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284.2"]
["12309A(99)v23310",5,3,0.6,"12309A","ABCA7","chr19:1065445","m.6693C>T(E47)","非编码区",{"$nulls":6},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,14,0,"ABCA7",0.96,28,"非编码区",14400,"0.71=5/7","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23311",2,2,1,"12309A","ABCA7","chr19:1064193","c.5985G>A(E45)","p.1995,L>L","rs4147930",0.61,0.53,0.53,0.52,0.37,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23312",11,6,0.55,"12309A","ABCA7","chr19:1051214","c.2745A>G(E20)","p.915,V>V","rs3752240",0.29,0.14,0.13,0.14,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"0.57=8/14","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23313",54,54,1,"12309A","ABCA7","chr19:1049012","IVS17+8A>C","非编码区","rs4147912",0.82,0.83,0.83,0.83,null,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"非编码区",16203,"1.00=96/96","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23314",14,6,0.43,"12309A","ABCA7","chr19:1055191","c.4046G>A(E30)","p.1349,R>Q","rs3745842",0.39,0.39,0.39,0.39,0.29,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"错义",12220,"0.35=8/23","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23315",3,3,1,"12309A","ABCA7","chr19:1047002","c.1824A>G(E14)","p.608,A>A","rs3752234",0.58,0.8,0.81,0.78,0.63,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23316",5,5,1,"12309A","ABCA7","chr19:1049305","c.2421C>A(E18)","p.807,V>V","rs4147915",0.2,0.46,0.47,0.46,0.37,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23317",14,4,0.29,"12309A","ABCA7","chr19:1056065","c.4239A>G(E32)","p.1413,R>R","rs881768",0.44,0.39,0.4,0.39,0.34,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"剪切位点",13202,"0.29=5/17","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23318",13,13,1,"12309A","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%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"错义",12210,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23319",2,2,1,"12309A","ABCA7","chr19:1065563","m.6811G>C(E47)","非编码区","rs2242437",0.6,0.53,0.53,0.53,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"非编码区",14200,"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"]
["12309A(99)v23320",8,8,1,"12309A","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%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23321",4,4,1,"12309A","ABCA7","chr19:1044753","IVS11+10T>C","非编码区","rs3764648",{"$nulls":5},0.69,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,14,0,"ABCA7",0.96,28,"非编码区",16303,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23322",28,28,1,"12309A","ABCA7","chr19:1056492","c.4580G>C(E33)","p.1527,G>A","rs3752246",0.83,0.7,0.69,0.72,0.66,0.66,"纯合","无关","有rs号，MAF>=5%","21460841;23669301;24643655",{"$nulls":3},5,null,14,0,"ABCA7",0.96,28,"错义",12220,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v23323",16,9,0.56,"12309A","ABCA7","chr19:1054060","c.3528A>G(E26)","p.1176,L>L","rs3752243",0.54,0.42,0.42,0.41,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"0.54=15/28","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112.3"]
["12309A(99)v5077",114,114,1,"12309A","ABCA8","chr17:66872802","c.4122G>C(E32)","p.1374,P>P","rs1481",0.81,0.99,1,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCA8",1,290,"同义",13203,"1.00=172/172","位于基因组多拷贝区域+DNA结构正常",10351,"17q24","NM_007168.2"]
["12309A(99)v11211",228,227,1,"12309A","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%",{"$nulls":4},5,null,6,0,"ABCA9",1,280,"错义",12220,"1.00=400/401","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283.3"]
["12309A(99)v11212",117,46,0.39,"12309A","ABCA9","chr17:67028260","c.1434T>C(E10)","p.478,K>K","rs2302291",0.41,0.24,0.22,0.26,0.25,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA9",1,280,"同义",13203,"0.38=69/182","位于基因组多拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283.3"]
["12309A(99)v11213",20,7,0.35,"12309A","ABCA9","chr17:66971879","m.5195T>C(E39)","非编码区","rs11077859",0.41,0.31,0.3,0.32,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA9",1,280,"非编码区",14200,"0.35=8/23","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283.3"]
["12309A(99)v11214",166,82,0.49,"12309A","ABCA9","chr17:66985992","c.3917T>G(E30)","p.1306,K>T","rs2302294",0.41,0.31,0.3,0.32,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA9",1,280,"错义",12210,"0.49=141/290","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283.3"]
["12309A(99)v11215",26,12,0.46,"12309A","ABCA9","chr17:66971898","m.5176C>T(E39)","非编码区","rs11077860",0.41,0.31,0.3,0.32,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA9",1,280,"非编码区",14200,"0.45=13/29","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283.3"]
["12309A(99)v11216",163,2,0.01,"12309A","ABCA9","chr17:67028367-67028367","c.1327(E10):缺失A","缺失移码",{"$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,"ABCA9",1,280,"缺失移码",2140,"0.01=2/203","位于基因组多拷贝区域+简单重复结构",10350,"17q24.2","NM_080283.3"]
["12309A(99)v4931",127,127,1,"12309A","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",1,280,"非编码区",14200,"1.00=244/244","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12309A(99)v4931",127,127,1,"12309A","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",1,280,"非编码区",14200,"1.00=244/244","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12309A(99)v4932",133,62,0.47,"12309A","ABCB1","chr7:87214970","c.144C>A(E5)","p.48,K>N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0026,2.8E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,280,"错义",12120,"0.48=105/220","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12309A(99)v4932",133,62,0.47,"12309A","ABCB1","chr7:87214970","c.144C>A(E5)","p.48,K>N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0026,2.8E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"炎性肠病13型",null,612244,3,2,4,2,"ABCB1",1,280,"错义",12120,"0.48=105/220","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12309A(99)v4933",234,106,0.45,"12309A","ABCB1","chr7:87160618","c.2677A>C(E22)","p.893,S>A","rs2032582",null,0.48,0.53,0.44,0.4,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,280,"错义",12320,"0.47=205/439","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12309A(99)v4933",234,106,0.45,"12309A","ABCB1","chr7:87160618","c.2677A>C(E22)","p.893,S>A","rs2032582",null,0.48,0.53,0.44,0.4,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","炎性肠病13型",null,612244,3,2,4,2,"ABCB1",1,280,"错义",12320,"0.47=205/439","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12309A(99)v4934",98,48,0.49,"12309A","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",1,280,"同义",13303,"0.50=87/174","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12309A(99)v4934",98,48,0.49,"12309A","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",1,280,"同义",13303,"0.50=87/174","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927.4"]
["12309A(99)v22628",118,54,0.46,"12309A","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",0.79,160,"非编码区",2500,"0.46=63/136","位于基因组单拷贝区域+DNA结构正常",23456,"1q42.13","NM_012089.2"]
["12309A(99)v3343",191,85,0.45,"12309A","ABCB11","chr2:169847412","c.807A>G(E9)","p.269,Y>Y","rs2287616",0.065,0.31,0.27,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.42=138/332","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3343",191,85,0.45,"12309A","ABCB11","chr2:169847412","c.807A>G(E9)","p.269,Y>Y","rs2287616",0.065,0.31,0.27,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.42=138/332","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3344",273,135,0.49,"12309A","ABCB11","chr2:169870855","c.108A>G(E4)","p.36,D>D","rs3815675",0.063,0.3,0.26,0.34,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.49=239/485","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3344",273,135,0.49,"12309A","ABCB11","chr2:169870855","c.108A>G(E4)","p.36,D>D","rs3815675",0.063,0.3,0.26,0.34,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.49=239/485","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3345",101,100,0.99,"12309A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,5,2,"ABCB11",1,240,"错义",12320,"0.99=162/163","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3345",101,100,0.99,"12309A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","良性复发性肝内胆汁淤积2型","AR",605479,3,1,5,2,"ABCB11",1,240,"错义",12320,"0.99=162/163","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3346",53,24,0.45,"12309A","ABCB11","chr2:169789016","c.3084T>C(E24)","p.1028,A>A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.46=37/81","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3346",53,24,0.45,"12309A","ABCB11","chr2:169789016","c.3084T>C(E24)","p.1028,A>A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.46=37/81","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3347",8,8,1,"12309A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,5,2,"ABCB11",1,240,"非编码区",14300,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v3347",8,8,1,"12309A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"良性复发性肝内胆汁淤积2型","AR",605479,3,1,5,2,"ABCB11",1,240,"非编码区",14300,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742.2"]
["12309A(99)v22782",130,57,0.44,"12309A","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,"0.43=90/209","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12309A(99)v22782",130,57,0.44,"12309A","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,"0.43=90/209","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12309A(99)v22782",130,57,0.44,"12309A","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,"0.43=90/209","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_000443.3"]
["12309A(99)v13574",174,88,0.51,"12309A","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,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12210,"0.52=161/312","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12309A(99)v13575",162,82,0.51,"12309A","ABCB5","chr7:20685508","IVS8+5T>G","剪切位点","rs11983326",0.32,0.16,0.16,0.15,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"剪切位点",16202,"0.50=137/272","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12309A(99)v13576",253,126,0.5,"12309A","ABCB5","chr7:20762646","c.2429G>T(E21)","p.810,G>V","rs62453384",0.23,0.21,0.24,0.18,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",21298007,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12210,"0.46=199/435","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12309A(99)v13577",17,17,1,"12309A","ABCB5","chr7:20706645","m.1182G>T(E6)","非编码区","rs12535128",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"非编码区",14200,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163993.1"]
["12309A(99)v13578",75,37,0.49,"12309A","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",{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12220,"0.49=60/122","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12309A(99)v13579",136,67,0.49,"12309A","ABCB5","chr7:20666235","IVS3+1G>C","剪切位点","rs17143187",0.15,0.45,0.43,0.46,0.48,0.53,"杂合","无关","突变在经典剪切位点上",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"剪切位点",16204,"0.51=121/235","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12309A(99)v13580",64,64,1,"12309A","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,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12220,"0.99=113/114","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12309A(99)v13581",164,83,0.51,"12309A","ABCB5","chr7:20768013","c.2802G>A(E23)","p.934,A>A","rs10254317",0.6,0.7,0.71,0.69,0.67,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"同义",13203,"0.47=140/295","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941.1"]
["12309A(99)v27138",7,1,0.14,"12309A","ABCB6","chr2:220082987","c.409C>T(E1)","p.137,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"孤立性小眼畸形伴眼缺损7型","AD",614497,3,1,1,3,"ABCB6",0.97,79,"错义",12420,"0.40=6/15","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12309A(99)v27138",7,1,0.14,"12309A","ABCB6","chr2:220082987","c.409C>T(E1)","p.137,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Langereis血型系统",null,111600,3,2,1,3,"ABCB6",0.97,79,"错义",12420,"0.40=6/15","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12309A(99)v27138",7,1,0.14,"12309A","ABCB6","chr2:220082987","c.409C>T(E1)","p.137,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"泛发性色素异常症3","AD",615402,3,1,1,3,"ABCB6",0.97,79,"错义",12420,"0.40=6/15","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689.2"]
["12309A(99)v18569",16,5,0.31,"12309A","ABCB9","chr12:123424824","c.1388G>C(E8)","p.463,S>C","rs116062676",1.4E-3,0.012,0.014,0.0097,0.0046,3.3E-3,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ABCB9",0.99,33,"错义",12110,"0.36=8/22","位于基因组单拷贝区域+DNA结构正常",23457,"12q24","NM_001243013.1"]
["12309A(99)v11643",12,6,0.5,"12309A","ABCC1","chr16:16173227","c.2007C>T(E16)","p.669,P>P","rs2301666",0.0058,0.031,0.029,0.034,0.038,0.026,"杂合","未知","预测范围之外的同义突变",16684361,{"$nulls":3},4,null,4,0,"ABCC1",0.99,92,"同义",13103,"0.44=8/18","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12309A(99)v11644",101,45,0.45,"12309A","ABCC1","chr16:16110375","c.512G>C(E5)","p.171,R>P","rs559703047",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ABCC1",0.99,92,"错义",12310,"0.44=69/157","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12309A(99)v11645",55,27,0.49,"12309A","ABCC1","chr16:16162019","c.1684T>C(E13)","p.562,L>L","rs35605",0.79,0.79,0.84,0.75,0.77,0.79,"杂合","无关","有rs号，MAF>=5%","16684361;24944790",{"$nulls":3},5,null,4,0,"ABCC1",0.99,92,"同义",13203,"0.50=45/90","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12309A(99)v11646",32,32,1,"12309A","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%",{"$nulls":4},5,null,4,0,"ABCC1",0.99,92,"非编码区",16203,"1.00=52/52","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996.3"]
["12309A(99)v30323",43,43,1,"12309A","ABCC10","chr6:43399837","m.349A>G(E1)","非编码区","rs700008",0.88,0.95,0.95,0.95,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCC10",0.96,50,"非编码区",14200,"1.00=76/76","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_033450.2"]
["12309A(99)v30324",19,1,0.05,"12309A","ABCC10","chr6:43400916","c.1198G>T(E3)","p.400,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,"ABCC10",0.96,50,"截断",15400,"0.12=4/34","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_001198934.1"]
["12309A(99)v9002",20,1,0.05,"12309A","ABCC11","chr16:48209237","c.3630G>A(E26)","p.1210,G>G",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"顶浆分泌腺变异","AD",117800,4,1,2,1,"ABCC11",1,130,"同义",13403,"0.14=4/29","位于基因组单拷贝区域+DNA结构正常",85320,"16q12.1","NM_032583.3"]
["12309A(99)v9003",39,39,1,"12309A","ABCC11","chr16:48258198","c.538C>T(E5)","p.180,G>R","rs17822931",0.3,0.91,0.84,0.97,0.87,0.88,"纯合","无关","有rs号，MAF>=5%","16255080;16444273;17394018;18037328;18817904;19650936;19737746;20937735;21423094;23325016;23760047;24019265","顶浆分泌腺变异","AD",117800,5,1,2,1,"ABCC11",1,130,"错义",12210,"1.00=60/60","位于基因组单拷贝区域+DNA结构正常",85320,"16q12.1","NM_032583.3"]
["12309A(99)v1196",91,89,0.98,"12309A","ABCC12","chr16:48122582","c.3349G>A(E24)","p.1117,R>C","rs7193955",0.59,0.89,0.88,0.91,0.86,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCC12",1,180,"错义",12210,"0.98=130/132","位于基因组单拷贝区域+DNA结构正常",94160,"16q12.1","NM_033226.2"]
["12309A(99)v25154",125,125,1,"12309A","ABCC2","chr10:101544447","c.116A>T(E2)","p.39,Y>F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,1,1,"ABCC2",1,180,"错义",12230,"1.00=224/225","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392.3"]
["12309A(99)v5228",27,13,0.48,"12309A","ABCC3","chr17:48762173","c.4217C>T(E29)","p.1406,T>M","rs140060241",0.0006,0,0,0,0.008,0.006,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ABCC3",1,71,"错义",12120,"0.48=21/44","位于基因组单拷贝区域+DNA结构正常",8714,"17q22","NM_003786.3"]
["12309A(99)v5229",18,1,0.06,"12309A","ABCC3","chr17:48761443","c.4088G>T(E28)","p.1363,R>L","rs370830587",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ABCC3",1,71,"错义",12310,"0.13=4/31","位于基因组单拷贝区域+DNA结构正常",8714,"17q22","NM_003786.3"]
["12309A(99)v20920",78,38,0.49,"12309A","ABCC4","chr13:95861804","c.669A>G(E6)","p.223,I>I","rs899494",0.81,0.78,0.8,0.77,0.76,0.78,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,8,0,"ABCC4",0.99,250,"同义",13203,"0.49=67/137","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12309A(99)v20921",95,95,1,"12309A","ABCC4","chr13:95727780","c.2712T>C(E22)","p.904,L>L","rs1678339",0.89,0.82,0.83,0.81,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,8,0,"ABCC4",0.99,250,"同义",13203,"1.00=161/161","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12309A(99)v20922",70,33,0.47,"12309A","ABCC4","chr13:95858996","c.951T>C(E8)","p.317,R>R","rs2274406",0.52,0.53,0.5,0.55,0.52,0.53,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,8,0,"ABCC4",0.99,250,"同义",13203,"0.47=54/114","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12309A(99)v20923",122,121,0.99,"12309A","ABCC4","chr13:95726541","c.2844A>G(E23)","p.948,F>F","rs1189466",0.9,0.82,0.84,0.81,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,8,0,"ABCC4",0.99,250,"同义",13203,"0.99=196/197","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12309A(99)v20924",102,47,0.46,"12309A","ABCC4","chr13:95673791","m.4135A>C(E31)","非编码区","rs3742106",0.41,0.51,0.51,0.5,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCC4",0.99,250,"非编码区",14200,"0.53=93/175","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12309A(99)v20925",80,35,0.44,"12309A","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",{"$nulls":3},5,null,8,0,"ABCC4",0.99,250,"同义",13203,"0.42=54/128","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_001105515.1"]
["12309A(99)v20926",175,175,1,"12309A","ABCC4","chr13:95714976","c.3348C>T(E26)","p.1116,K>K","rs1751034",0.79,0.81,0.82,0.81,0.74,0.78,"纯合","无关","有rs号，MAF>=5%","18364470;24944790",{"$nulls":3},5,null,8,0,"ABCC4",0.99,250,"同义",13203,"1.00=272/273","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12309A(99)v20927",1,1,1,"12309A","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%",{"$nulls":4},5,null,8,0,"ABCC4",0.99,250,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845.3"]
["12309A(99)v2683",138,138,1,"12309A","ABCC5","chr3:183685534","c.1782A>G(E12)","p.594,C>C","rs939336",0.69,0.85,0.87,0.82,0.83,0.86,"纯合","无关","有rs号，MAF>=5%","14507663;24924344",{"$nulls":3},5,null,4,0,"ABCC5",1,140,"同义",13203,"1.00=219/219","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12309A(99)v2684",91,91,1,"12309A","ABCC5","chr3:183696402","c.1185A>G(E9)","p.395,A>A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",24924344,{"$nulls":3},5,null,4,0,"ABCC5",1,140,"同义",13203,"1.00=146/146","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12309A(99)v2685",1,1,1,"12309A","ABCC5","chr3:183637845","m.5722T>C(E30)","非编码区","rs562",0.54,0.5,0.54,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$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"]
["12309A(99)v2686",131,130,0.99,"12309A","ABCC5","chr3:183660585","c.3624G>A(E25)","p.1208,L>L","rs3749442",0.25,0.44,0.47,0.41,0.42,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC5",1,140,"同义",13203,"1.00=215/216","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688.2"]
["12309A(99)v16019",23,23,1,"12309A","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",264800,5,1,2,3,"ABCC6",1,62,"同义",13203,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12309A(99)v16019",23,23,1,"12309A","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",177850,5,1,2,3,"ABCC6",1,62,"同义",13203,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12309A(99)v16019",23,23,1,"12309A","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",614473,5,1,2,3,"ABCC6",1,62,"同义",13203,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12309A(99)v16020",60,60,1,"12309A","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",264800,5,1,2,3,"ABCC6",1,62,"错义",12230,"1.00=94/94","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12309A(99)v16020",60,60,1,"12309A","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",177850,5,1,2,3,"ABCC6",1,62,"错义",12230,"1.00=94/94","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12309A(99)v16020",60,60,1,"12309A","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",614473,5,1,2,3,"ABCC6",1,62,"错义",12230,"1.00=94/94","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171.5"]
["12309A(99)v19650",51,24,0.47,"12309A","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",240800,5,1,5,5,"ABCC8",1,78,"同义",13203,"0.52=42/81","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19650",51,24,0.47,"12309A","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",256450,5,1,5,5,"ABCC8",1,78,"同义",13203,"0.52=42/81","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19650",51,24,0.47,"12309A","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",125853,5,1,5,5,"ABCC8",1,78,"同义",13203,"0.52=42/81","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19650",51,24,0.47,"12309A","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,610374,5,2,5,5,"ABCC8",1,78,"同义",13203,"0.52=42/81","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19650",51,24,0.47,"12309A","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",606176,5,1,5,5,"ABCC8",1,78,"同义",13203,"0.52=42/81","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19651",16,8,0.5,"12309A","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",240800,5,1,5,5,"ABCC8",1,78,"剪切位点",16202,"0.48=11/23","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19651",16,8,0.5,"12309A","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",256450,5,1,5,5,"ABCC8",1,78,"剪切位点",16202,"0.48=11/23","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19651",16,8,0.5,"12309A","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",125853,5,1,5,5,"ABCC8",1,78,"剪切位点",16202,"0.48=11/23","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19651",16,8,0.5,"12309A","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,610374,5,2,5,5,"ABCC8",1,78,"剪切位点",16202,"0.48=11/23","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19651",16,8,0.5,"12309A","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",606176,5,1,5,5,"ABCC8",1,78,"剪切位点",16202,"0.48=11/23","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19652",15,9,0.6,"12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,5,5,"ABCC8",1,78,"错义",12220,"0.62=13/21","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19652",15,9,0.6,"12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,5,5,"ABCC8",1,78,"错义",12220,"0.62=13/21","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19652",15,9,0.6,"12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,5,5,"ABCC8",1,78,"错义",12220,"0.62=13/21","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19652",15,9,0.6,"12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿暂时性糖尿病2型",null,610374,5,2,5,5,"ABCC8",1,78,"错义",12220,"0.62=13/21","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19652",15,9,0.6,"12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,5,5,"ABCC8",1,78,"错义",12220,"0.62=13/21","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19653",12,2,0.17,"12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,5,5,"ABCC8",1,78,"同义",13203,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19653",12,2,0.17,"12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,5,5,"ABCC8",1,78,"同义",13203,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19653",12,2,0.17,"12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,5,5,"ABCC8",1,78,"同义",13203,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19653",12,2,0.17,"12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,2,5,5,"ABCC8",1,78,"同义",13203,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19653",12,2,0.17,"12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,5,5,"ABCC8",1,78,"同义",13203,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19654",8,1,0.12,"12309A","ABCC8","chr11:17498277","c.47C>T(E1)","p.16,R>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,3,1,5,5,"ABCC8",1,78,"错义",12420,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19654",8,1,0.12,"12309A","ABCC8","chr11:17498277","c.47C>T(E1)","p.16,R>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,3,1,5,5,"ABCC8",1,78,"错义",12420,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19654",8,1,0.12,"12309A","ABCC8","chr11:17498277","c.47C>T(E1)","p.16,R>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,3,1,5,5,"ABCC8",1,78,"错义",12420,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19654",8,1,0.12,"12309A","ABCC8","chr11:17498277","c.47C>T(E1)","p.16,R>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"新生儿暂时性糖尿病2型",null,610374,3,2,5,5,"ABCC8",1,78,"错义",12420,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v19654",8,1,0.12,"12309A","ABCC8","chr11:17498277","c.47C>T(E1)","p.16,R>Q",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,3,1,5,5,"ABCC8",1,78,"错义",12420,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352.3"]
["12309A(99)v25895",138,136,0.99,"12309A","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,"0.98=258/262","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12309A(99)v25895",138,136,0.99,"12309A","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,"0.98=258/262","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12309A(99)v25895",138,136,0.99,"12309A","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,"0.98=258/262","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12309A(99)v25896",43,26,0.6,"12309A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,290,"剪切位点",16201,"0.59=34/58","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12309A(99)v25896",43,26,0.6,"12309A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1O型",null,608569,5,2,2,3,"ABCC9",1,290,"剪切位点",16201,"0.59=34/58","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12309A(99)v25896",43,26,0.6,"12309A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"多毛性骨软骨发育不良","AD",239850,5,1,2,3,"ABCC9",1,290,"剪切位点",16201,"0.59=34/58","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_005691.2"]
["12309A(99)v18140",65,63,0.97,"12309A","ABCD3","chr1:94982785","m.2182A>T(E23)","非编码区","rs662813",0.28,0.35,0.39,0.31,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCD3",0.95,310,"非编码区",14200,"0.95=80/84","位于基因组单拷贝区域+DNA结构正常",5825,"1p21.3","NM_002858.3"]
["12309A(99)v303",5,5,1,"12309A","ABCD4","chr14:74752902","m.2235A>C(E19)","非编码区","rs2466",0.26,0.52,0.56,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"甲基丙二酸尿症和高胱氨酸尿 cblJ型","AR",614857,5,1,2,1,"ABCD4",1,85,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",5826,"14q24.3","NM_005050.3"]
["12309A(99)v304",21,1,0.05,"12309A","ABCD4","chr14:74753092","m.2045G>T(E19)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"甲基丙二酸尿症和高胱氨酸尿 cblJ型","AR",614857,3,3,2,1,"ABCD4",1,85,"非编码区",14400,"0.11=4/35","位于基因组单拷贝区域+DNA结构正常",5826,"14q24.3","NM_005050.3"]
["12309A(99)v21263",131,131,1,"12309A","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%",{"$nulls":4},5,null,1,0,"ABCE1",1,300,"剪切位点",16202,"0.99=219/222","位于基因组单拷贝区域+DNA结构正常",6059,"4q31","NM_001040876.1"]
["12309A(99)v16785",11,1,0.09,"12309A","ABCF2","chr7:150920773","c.713G>A(E5)","p.238,A>V",{"$nulls":6},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ABCF2",1,92,"错义",12410,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",10061,"7q36","NM_005692.3"]
["12309A(99)v16786",79,39,0.49,"12309A","ABCF2","chr7:150916228","c.939G>A(E8)","p.313,Y>Y","rs6949587",0.42,0.69,0.76,0.63,0.67,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCF2",1,92,"同义",13203,"0.52=61/117","位于基因组单拷贝区域+DNA结构正常",10061,"7q36","NM_005692.3"]
["12309A(99)v16787",63,63,1,"12309A","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%",{"$nulls":4},5,null,4,0,"ABCF2",1,92,"同义",13203,"1.00=100/100","位于基因组多拷贝区域+DNA结构正常",10061,"7q36","NM_005692.3"]
["12309A(99)v16788",1,1,1,"12309A","ABCF2","chr7:150910225","m.2898T>C(E15)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ABCF2",1,92,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",10061,"7q36","NM_007189.1"]
["12309A(99)v30474",12,10,0.83,"12309A","ABCF3","chr3:183903935-183903936","m.73(E1)至m.74(E1):插入G","非编码区","rs397755106",0.44,0.6,0.58,0.62,0.066,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"ABCF3",1,93,"非编码区",2420,"0.87=13/15","位于基因组单拷贝区域+简单重复结构",55324,"3q27.1","NM_018358.2"]
["12309A(99)v4357",15,7,0.47,"12309A","ABCG1","chr21:43716647","m.2288C>T(E15)","非编码区","rs371391053",0.0004,0.0024,0.0048,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ABCG1",0.98,90,"非编码区",14100,"0.50=8/16","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12309A(99)v4358",61,55,0.9,"12309A","ABCG1","chr21:43708431-43708432","IVS10+9至IVS10+10:插入C","非编码区","rs2234720",{"$nulls":4},0.04,0.32,"纯合","无关","内含子突变",{"$nulls":4},5,null,2,0,"ABCG1",0.98,90,"非编码区",2500,"0.91=58/64","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_004915.3"]
["12309A(99)v22174",171,76,0.44,"12309A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"杂合","无关","有rs号，MAF>=5%","18547414;18834626;19474294;19503597;19506252;19842935;19890391;19930591;20053405;20130569;20162742;20162743;20389299;20421215;20470424;20714133;20837191;20858603;20959405;21918980;21983786;22015057;22112610;22229870;23100282;23263486;23280364;23438071;23712608;23778707;23827224;24499401;24513273;24532835;24598718;24637121;24777469;24827988;24883056;24944790;24991206;25128519","血型JUNIOR系统",null,614490,5,2,2,2,"ABCG2",1,300,"错义",12220,"0.42=126/302","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_001257386.1"]
["12309A(99)v22174",171,76,0.44,"12309A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"杂合","无关","有rs号，MAF>=5%","18547414;18834626;19474294;19503597;19506252;19842935;19890391;19930591;20053405;20130569;20162742;20162743;20389299;20421215;20470424;20714133;20837191;20858603;20959405;21918980;21983786;22015057;22112610;22229870;23100282;23263486;23280364;23438071;23712608;23778707;23827224;24499401;24513273;24532835;24598718;24637121;24777469;24827988;24883056;24944790;24991206;25128519","血浆尿酸浓度数量性状位点1","AD",138900,5,1,2,2,"ABCG2",1,300,"错义",12220,"0.42=126/302","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_001257386.1"]
["12309A(99)v22175",285,1,0,"12309A","ABCG2","chr4:89034568-89034570","c.1081(E9)至c.1079(E9):缺失TCT","缺失非移码",{"$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,"0.01=2/346","位于基因组单拷贝区域+简单重复结构",9429,"4q22","NM_001257386.1"]
["12309A(99)v22175",285,1,0,"12309A","ABCG2","chr4:89034568-89034570","c.1081(E9)至c.1079(E9):缺失TCT","缺失非移码",{"$nulls":5},0.0024,1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"血浆尿酸浓度数量性状位点1","AD",138900,3,1,2,2,"ABCG2",1,300,"缺失非移码",2242,"0.01=2/346","位于基因组单拷贝区域+简单重复结构",9429,"4q22","NM_001257386.1"]
["12309A(99)v13615",1,1,1,"12309A","ABCG4","chr11:119032689","m.2926A>C(E15)","非编码区","rs3802885",0.22,0.15,0.18,0.13,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCG4",0.95,65,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",64137,"11q23.3","NM_001142505.1"]
["12309A(99)v13616",19,12,0.63,"12309A","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,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ABCG4",0.95,65,"非编码区",2420,"0.57=12/21","位于基因组单拷贝区域+DNA结构正常",64137,"11q23.3","NM_001142505.1"]
["12309A(99)v30657",161,82,0.51,"12309A","ABCG5","chr2:44040401","c.1810G>C(E13)","p.604,Q>E","rs6720173",0.24,0.12,0.14,0.11,0.11,0.12,"杂合","无关","有rs号，MAF>=5%","15996216;16507104;19005228","谷甾醇血症","AR",210250,5,3,3,1,"ABCG5",1,170,"错义",12220,"0.49=140/284","位于基因组单拷贝区域+DNA结构正常",64240,"2p21","NM_022436.2"]
["12309A(99)v30658",23,1,0.04,"12309A","ABCG5","chr2:44065841","m.118G>A(E1)","非编码区",{"$nulls":5},0.0013,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"谷甾醇血症","AR",210250,3,3,3,1,"ABCG5",1,170,"非编码区",14400,"0.11=4/37","位于基因组单拷贝区域+DNA结构正常",64240,"2p21","NM_022436.2"]
["12309A(99)v30659",1,1,1,"12309A","ABCG5","chr2:44039875","m.2476A>C(E13)","非编码区","rs2278356",0.46,0.21,0.22,0.19,null,null,"纯合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,1,3,1,"ABCG5",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",64240,"2p21","NM_022436.2"]
["12309A(99)v1342",38,38,1,"12309A","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",210250,5,1,6,2,"ABCG8",1,83,"错义",12210,"1.00=61/61","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1342",38,38,1,"12309A","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,611465,5,1,6,2,"ABCG8",1,83,"错义",12210,"1.00=61/61","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1343",93,93,1,"12309A","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",210250,5,1,6,2,"ABCG8",1,83,"剪切位点",16202,"1.00=152/152","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1343",93,93,1,"12309A","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,611465,5,1,6,2,"ABCG8",1,83,"剪切位点",16202,"1.00=152/152","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1344",3,3,1,"12309A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"纯合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,83,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1344",3,3,1,"12309A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"纯合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,83,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1345",152,151,0.99,"12309A","ABCG8","chr2:44104925","c.1895T>C(E13)","p.632,V>A","rs6544718",null,1,1,1,0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害","15996216;16507104;20170916","谷甾醇血症","AR",210250,3,1,6,2,"ABCG8",1,83,"错义",12320,"1.00=250/251","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1345",152,151,0.99,"12309A","ABCG8","chr2:44104925","c.1895T>C(E13)","p.632,V>A","rs6544718",null,1,1,1,0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害","15996216;16507104;20170916","胆囊病4型",null,611465,3,1,6,2,"ABCG8",1,83,"错义",12320,"1.00=250/251","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1346",25,25,1,"12309A","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",210250,5,1,6,2,"ABCG8",1,83,"剪切位点",16202,"0.98=46/47","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1346",25,25,1,"12309A","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,611465,5,1,6,2,"ABCG8",1,83,"剪切位点",16202,"0.98=46/47","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1347",138,1,0.01,"12309A","ABCG8","chr2:44101543-44101544","IVS9-3至IVS9-2:插入T","剪切位点",{"$nulls":5},0,null,"杂合","较高","理论上这种剪切位点的插入缺失可能对mRNA及蛋白序列产生较为显著的影响",null,"谷甾醇血症","AR",210250,1,3,6,2,"ABCG8",1,83,"剪切位点",2340,"0.01=1/158","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v1347",138,1,0.01,"12309A","ABCG8","chr2:44101543-44101544","IVS9-3至IVS9-2:插入T","剪切位点",{"$nulls":5},0,null,"杂合","较高","理论上这种剪切位点的插入缺失可能对mRNA及蛋白序列产生较为显著的影响",null,"胆囊病4型",null,611465,1,2,6,2,"ABCG8",1,83,"剪切位点",2340,"0.01=1/158","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437.2"]
["12309A(99)v12198",52,52,1,"12309A","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%",{"$nulls":4},5,null,1,0,"ABHD1",1,100,"错义",12230,"1.00=71/71","位于基因组单拷贝区域+DNA结构正常",84696,"2p23.3","NM_032604.3"]
["12309A(99)v30716",21,13,0.62,"12309A","ABHD11","chr7:73151644","c.540A>G(E4)","p.180,Y>Y","rs6460052",0.6,0.56,0.55,0.58,0.49,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD11",1,45,"同义",13203,"0.60=24/40","位于基因组单拷贝区域+DNA结构正常",83451,"7q11.23","NM_148912.2"]
["12309A(99)v16764",28,15,0.54,"12309A","ABHD12","chr20:25281398","m.1559C>T(E13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"杂合","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",612674,5,3,5,1,"ABHD12",0.85,120,"非编码区",14200,"0.45=19/42","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12309A(99)v16765",29,13,0.45,"12309A","ABHD12","chr20:25282944","c.1068A>G(E12)","p.356,D>D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"杂合","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",612674,5,3,5,1,"ABHD12",0.85,120,"同义",13203,"0.45=22/49","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12309A(99)v16766",53,28,0.53,"12309A","ABHD12","chr20:25275621","c.1203T>C(E13)","p.401,S>S","rs73598373",0.056,0.043,0.062,0.024,0.043,0.068,"杂合","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",612674,5,3,5,1,"ABHD12",0.85,120,"同义",13203,"0.51=42/82","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_015600.4"]
["12309A(99)v16767",8,3,0.38,"12309A","ABHD12","chr20:25281333","m.1624G>A(E13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"杂合","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",612674,5,3,5,1,"ABHD12",0.85,120,"非编码区",14200,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472.2"]
["12309A(99)v16768",43,8,0.19,"12309A","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",612674,4,3,5,1,"ABHD12",0.85,120,"非编码区",2420,"0.17=8/47","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_015600.4"]
["12309A(99)v22854",155,154,0.99,"12309A","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%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"非编码区",14200,"0.99=246/249","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12309A(99)v22855",223,220,0.99,"12309A","ABHD12B","chr14:51368610","c.844A>G(E10)","p.282,I>V","rs28564871",0.28,0.46,0.47,0.46,0.45,0.44,"纯合","无关","有疾病相关报道，MAF>=5%","16959974;",{"$nulls":3},5,null,6,0,"ABHD12B",0.79,180,"错义",11200,"0.99=402/407","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12309A(99)v22856",109,109,1,"12309A","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%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"剪切位点",16202,"1.00=182/182","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12309A(99)v22857",83,45,0.54,"12309A","ABHD12B","chr14:51352608","c.657T>C(E7)","p.219,G>G","rs2297893",0.1,0.16,0.19,0.14,0.18,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"同义",13203,"0.49=66/135","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12309A(99)v22858",107,106,0.99,"12309A","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%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"非编码区",14200,"0.99=167/169","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12309A(99)v22859",148,148,1,"12309A","ABHD12B","chr14:51371130","m.1150C>T(E13)","非编码区","rs11157780",0.25,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"非编码区",14200,"1.00=234/234","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673.1"]
["12309A(99)v26408",4,3,0.75,"12309A","ABHD13","chr13:108882748","m.1447A>G(E2)","非编码区","rs9587535",0.12,0.11,0.12,0.097,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD13",1,130,"非编码区",14200,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",84945,"13q33.3","NM_032859.2"]
["12309A(99)v28618",18,18,1,"12309A","ABHD15","chr17:27889578","m.1466T>C(E2)","非编码区","rs539307",0.74,0.95,0.94,0.95,0.9,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABHD15",0.95,19,"非编码区",14200,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12309A(99)v28619",5,1,0.2,"12309A","ABHD15","chr17:27893279","c.706C>T(E1)","p.236,E>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,"ABHD15",0.95,19,"错义",12410,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12309A(99)v28620",3,1,0.33,"12309A","ABHD15","chr17:27893603","c.382G>A(E1)","p.128,Q>X",{"$nulls":7},"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,4,0,"ABHD15",0.95,19,"截断",15400,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12309A(99)v28621",8,8,1,"12309A","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%",{"$nulls":4},5,null,4,0,"ABHD15",0.95,19,"错义",12220,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147.2"]
["12309A(99)v1580",3,3,1,"12309A","ABHD16B","chr20:62492922","c.29T>A(E1)","p.10,L>Q","rs2281534",0.066,0.14,0.15,0.13,0.09,0.24,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD16B",0.9,3.8,"错义",12220,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622.3"]
["12309A(99)v24461",141,140,0.99,"12309A","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%",{"$nulls":4},5,null,3,0,"ABHD2",1,120,"非编码区",14200,"1.00=228/229","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011.7"]
["12309A(99)v24462",17,17,1,"12309A","ABHD2","chr15:89744004","m.7546C>T(E15)","非编码区","rs7179900",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABHD2",1,120,"非编码区",14200,"0.94=31/33","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011.7"]
["12309A(99)v24463",1,1,1,"12309A","ABHD2","chr15:89740616","m.4158G>A(E15)","非编码区","rs4932214",0.89,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABHD2",1,120,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011.7"]
["12309A(99)v6787",30,1,0.03,"12309A","ABHD3","chr18:19284677-19284678","m.90(E1)至m.89(E1):插入GAGCGGGCGA","非编码区","rs150746310",{"$nulls":4},0.0056,0.054,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ABHD3",1,260,"非编码区",2430,"0.06=2/33","位于基因组单拷贝区域+DNA结构正常",171586,"18q11.2","NM_138340.4"]
["12309A(99)v2068",1,1,1,"12309A","ABHD5","chr3:43762841","m.3977C>A(E7)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",null,"Chanarin-Dorfman综合征/中性脂质贮积病伴鱼鳞病","AR",275630,3,1,1,1,"ABHD5",1,230,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",51099,"3p21","NM_016006.4"]
["12309A(99)v2773",2,2,1,"12309A","ABHD8","chr19:17412218","c.208C>T(E2)","p.70,G>R","rs3745186",0.13,0.15,0.16,0.14,0.11,0.15,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD8",1,18,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",79575,"19p13.11","NM_024527.4"]
["12309A(99)v2774",4,1,0.25,"12309A","ABHD8","chr19:17412031","c.395G>T(E2)","p.132,A>D",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ABHD8",1,18,"错义",12420,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",79575,"19p13.11","NM_024527.4"]
["12309A(99)v1756",7,7,1,"12309A","ABI3","chr17:47297297","c.608T>C(E5)","p.203,F>S","rs616338",1,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3",1,40,"错义",12230,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",51225,"17q21.3","NM_001135186.1"]
["12309A(99)v1757",20,7,0.35,"12309A","ABI3","chr17:47293906","c.131G>A(E2)","p.44,R>Q","rs2233369",0.11,0.13,0.11,0.15,0.15,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3",1,40,"错义",12210,"0.30=7/23","位于基因组单拷贝区域+DNA结构正常",51225,"17q21.3","NM_001135186.1"]
["12309A(99)v5470",82,82,1,"12309A","ABI3BP","chr3:100617680","c.408C>T(E4)","p.136,S>S","rs2245370",0.73,0.92,0.95,0.89,0.88,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3BP",1,310,"同义",13203,"1.00=136/136","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429.3"]
["12309A(99)v5471",102,43,0.42,"12309A","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",{"$nulls":4},5,null,2,0,"ABI3BP",1,310,"错义",18220,"0.41=61/148","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429.3"]
["12309A(99)v2689",13,13,1,"12309A","ABL1","chr9:133761001","c.3324A>G(E11)","p.1108,P>P","rs1056171",0.65,0.61,0.61,0.61,0.54,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABL1",1,72,"同义",13203,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12309A(99)v2690",7,1,0.14,"12309A","ABL1","chr9:133759950","c.2273A>T(E11)","p.758,E>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,4,0,"ABL1",1,72,"错义",12420,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12309A(99)v2691",18,18,1,"12309A","ABL1","chr9:133710819-133710820","UTR:插入C","非编码区","rs67372388",1,1,1,1,0.8,1,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,4,0,"ABL1",1,72,"非编码区",2600,"1.00=20/20","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12309A(99)v2692",3,3,1,"12309A","ABL1","chr9:133634535-133634536","UTR:插入GCTCA","非编码区","rs111645729",0.6,0.62,0.6,0.65,0.25,null,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,4,0,"ABL1",1,72,"非编码区",2600,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_005157.4"]
["12309A(99)v20286",102,50,0.49,"12309A","ABL2","chr1:179076821","m.3272A>G(E13)","非编码区","rs28913893",0.0062,0.041,0.048,0.034,null,0.039,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ABL2",0.97,160,"非编码区",14100,"0.48=86/179","位于基因组单拷贝区域+DNA结构正常",27,"1q25.2","NM_001136000.2"]
["12309A(99)v19891",69,34,0.49,"12309A","ABLIM1","chr10:116335246","c.312G>A(E3)","p.104,F>F","rs985273",0.3,0.24,0.21,0.27,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,3,0,"ABLIM1",1,200,"同义",13203,"0.53=57/108","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003407.1"]
["12309A(99)v19892",7,4,0.57,"12309A","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%",{"$nulls":4},5,null,3,0,"ABLIM1",1,200,"非编码区",14200,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003407.1"]
["12309A(99)v19893",55,55,1,"12309A","ABLIM1","chr10:116307504","c.525A>G(E5)","p.175,N>N","rs2247528",0.78,0.66,0.63,0.69,0.63,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABLIM1",1,200,"同义",13203,"1.00=88/88","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003407.1"]
["12309A(99)v5852",27,27,1,"12309A","ABLIM2","chr4:8031471","c.1080A>G(E11)","p.360,C>C","rs2385904",0.73,0.78,0.79,0.77,0.73,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"同义",13203,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12309A(99)v5853",62,62,1,"12309A","ABLIM2","chr4:8062690","IVS7+4G>A","剪切位点","rs10938683",0.7,0.94,0.96,0.92,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"剪切位点",16202,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12309A(99)v5854",62,62,1,"12309A","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%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"剪切位点",16202,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12309A(99)v5855",38,38,1,"12309A","ABLIM2","chr4:8009759","m.1566G>A(E14)","非编码区","rs17180256",0.77,0.78,0.78,0.78,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"非编码区",14200,"0.99=66/67","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130088.1"]
["12309A(99)v5856",7,4,0.57,"12309A","ABLIM2","chr4:7968572","m.2226C>T(E21)","非编码区","rs2292738",0.21,0.26,0.23,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"非编码区",14200,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083.1"]
["12309A(99)v5857",24,13,0.54,"12309A","ABLIM2","chr4:8009737","m.1588C>T(E14)","非编码区","rs16841552",0.17,0.3,0.3,0.31,null,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"非编码区",14200,"0.59=22/37","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130088.1"]
["12309A(99)v31239",2,1,0.5,"12309A","ABLIM3","chr5:148638190","m.2526G>A(E24)","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,"ABLIM3",1,150,"非编码区",14400,"0.80=4/5","位于基因组单拷贝区域+DNA结构正常",22885,"5q32","NM_014945.2"]
["12309A(99)v31240",109,48,0.44,"12309A","ABLIM3","chr5:148610276","IVS9+6C>A","剪切位点","rs2918265",0.44,0.59,0.58,0.6,0.54,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABLIM3",1,150,"剪切位点",16202,"0.42=75/180","位于基因组单拷贝区域+DNA结构正常",22885,"5q32","NM_014945.2"]
["12309A(99)v20640",8,1,0.12,"12309A","ABO","chr9:136131389","c.728G>T(E7)","p.243,P>H","rs35494115",{"$nulls":6},"杂合","未知","未知",null,"ABO血型系统",null,616093,3,2,11,1,"ABO",0.98,47,"错义",12330,"0.19=3/16","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20641",23,10,0.43,"12309A","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,616093,5,2,11,1,"ABO",0.98,47,"错义",12230,"0.46=19/41","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20642",23,10,0.43,"12309A","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,616093,5,2,11,1,"ABO",0.98,47,"同义",13203,"0.46=19/41","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20643",15,7,0.47,"12309A","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,616093,5,2,11,1,"ABO",0.98,47,"错义",12230,"0.46=11/24","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20644",51,28,0.55,"12309A","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,616093,5,2,11,1,"ABO",0.98,47,"错义",12230,"0.50=44/88","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20645",1,1,1,"12309A","ABO","chr9:136130893","m.1249T>C(E7)","非编码区","rs7469795",0.44,0.45,0.44,0.46,null,null,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,11,1,"ABO",0.98,47,"非编码区",14200,"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"]
["12309A(99)v20646",119,58,0.49,"12309A","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,616093,5,2,11,1,"ABO",0.98,47,"错义",12230,"0.48=94/194","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20647",5,2,0.4,"12309A","ABO","chr9:136131651","c.466G>A(E7)","p.156,R>W","rs1053878",0.13,0.18,0.2,0.15,0.17,0.19,"杂合","无关","有rs号，MAF>=5%",19169360,"ABO血型系统",null,616093,5,2,11,1,"ABO",0.98,47,"错义",12230,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20648",42,24,0.57,"12309A","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,616093,5,2,11,1,"ABO",0.98,47,"错义",12230,"0.44=36/81","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20649",14,8,0.57,"12309A","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,616093,5,2,11,1,"ABO",0.98,47,"错义",12230,"0.55=12/22","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v20650",63,24,0.38,"12309A","ABO","chr9:136132908-136132909","c.261(E6)至c.260(E6):插入C","插入移码","rs72238104",0.34,0.41,0.42,0.39,0.32,0.38,"杂合","未知","有rs号，MAF>=5%的移码突变",null,"ABO血型系统",null,616093,4,2,11,1,"ABO",0.98,47,"插入移码",2120,"0.39=28/71","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469.2"]
["12309A(99)v30916",31,13,0.42,"12309A","ABP1","chr7:150556002","c.1722T>C(E3)","p.574,P>P","rs1049748",0.52,0.57,0.54,0.6,0.54,0.59,"杂合","无关","有rs号，MAF>=5%",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,51,"同义",13203,"0.50=23/46","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12309A(99)v30917",16,16,1,"12309A","ABP1","chr7:150556056","c.1776G>C(E3)","p.592,T>T","rs6943420",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,51,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12309A(99)v30918",16,16,1,"12309A","ABP1","chr7:150556055","c.1775C>G(E3)","p.592,T>R","rs6943147",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,51,"错义",12220,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12309A(99)v30919",40,12,0.3,"12309A","ABP1","chr7:150555915","c.1635A>G(E3)","p.545,P>P","rs10893",0.46,0.49,0.49,0.5,0.49,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,51,"同义",13203,"0.30=20/66","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12309A(99)v30920",59,29,0.49,"12309A","ABP1","chr7:150554887","c.1329G>A(E2)","p.443,A>A","rs2071514",0.3,0.45,0.43,0.48,0.47,0.47,"杂合","无关","有rs号，MAF>=5%",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,51,"同义",13203,"0.46=48/104","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12309A(99)v30921",71,36,0.51,"12309A","ABP1","chr7:150557622","c.1890G>A(E4)","p.630,S>S","rs12179",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,51,"同义",13203,"0.51=59/116","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12309A(99)v30922",78,43,0.55,"12309A","ABP1","chr7:150557665","c.1933C>G(E4)","p.645,H>D","rs1049793",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%","19450133;19670078",{"$nulls":3},5,null,7,0,"ABP1",1,51,"错义",12220,"0.56=72/129","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091.2"]
["12309A(99)v403",20,20,1,"12309A","ABR","chr17:970413","c.975C>T(E9)","p.325,E>E","rs2262150",0.9,0.97,0.97,0.97,0.92,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABR",0.95,65,"同义",13203,"1.00=30/30","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001092.4"]
["12309A(99)v25",46,22,0.48,"12309A","ABRA","chr8:107782065","c.354A>G(E1)","p.118,Y>Y","rs13259080",0.19,0.38,0.37,0.39,0.37,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABRA",1,76,"同义",13203,"0.61=39/64","位于基因组单拷贝区域+DNA结构正常",137735,"8q23.1","NM_139166.4"]
["12309A(99)v25693",41,41,1,"12309A","ABT1","chr6:26598188","c.288A>G(E2)","p.96,G>G","rs3800303",0.52,0.67,0.72,0.61,0.59,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABT1",1,60,"同义",13203,"1.00=68/68","位于基因组单拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375.3"]
["12309A(99)v25694",87,86,0.99,"12309A","ABT1","chr6:26597333","c.123A>G(E1)","p.41,K>K","rs3800302",0.71,0.76,0.82,0.71,0.75,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABT1",1,60,"同义",13203,"0.99=175/176","位于基因组多拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375.3"]
["12309A(99)v3826",2,1,0.5,"12309A","ABTB1","chr3:127391835","m.55G>T(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ABTB1",0.99,25,"非编码区",14400,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",80325,"3q21","NM_032548.3"]
["12309A(99)v9922",5,4,0.8,"12309A","ACAA2","chr18:47309909","m.1899A>G(E10)","非编码区","rs7237253",0.097,0.14,0.17,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAA2",0.99,260,"非编码区",14200,"0.83=5/6","位于基因组多拷贝区域+DNA结构正常",10449,"18q21.1","NM_006111.2"]
["12309A(99)v9923",2,2,1,"12309A","ACAA2","chr18:47309884","m.1924G>C(E10)","非编码区","rs7233791",0.1,0.14,0.17,0.11,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAA2",0.99,260,"非编码区",14200,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",10449,"18q21.1","NM_006111.2"]
["12309A(99)v4359",94,94,1,"12309A","ACACA","chr17:35478362","c.6189T>C(E50)","p.2063,T>T","rs1470452",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"乙酰CoA羧化酶缺陷症","AR",613933,5,1,3,1,"ACACA",1,230,"同义",13203,"1.00=160/160","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198834.1"]
["12309A(99)v4360",194,96,0.49,"12309A","ACACA","chr17:35609866","c.1923C>T(E15)","p.641,Q>Q","rs2229416",0.22,0.5,0.46,0.54,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",19846279,"乙酰CoA羧化酶缺陷症","AR",613933,5,3,3,1,"ACACA",1,230,"同义",13203,"0.51=155/301","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198834.1"]
["12309A(99)v4361",129,60,0.47,"12309A","ACACA","chr17:35696804","c.45G>A(E2)","p.15,F>F","rs58654829",null,0.7,0.69,0.72,0.69,0.7,"杂合","未知","预测范围之外的同义突变",null,"乙酰CoA羧化酶缺陷症","AR",613933,4,3,3,1,"ACACA",1,230,"同义",13303,"0.42=78/184","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198834.1"]
["12309A(99)v27109",85,41,0.48,"12309A","ACACB","chr12:109675029","c.4506T>C(E33)","p.1502,L>L","rs2241220",0.78,0.69,0.69,0.68,0.69,0.74,"杂合","无关","有rs号，MAF>=5%","18031993;19846279",{"$nulls":3},5,null,6,0,"ACACB",1,120,"同义",13203,"0.46=62/134","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12309A(99)v27110",21,10,0.48,"12309A","ACACB","chr12:109670468","IVS27-6T>C","剪切位点","rs3742027",0.87,0.69,0.7,0.67,null,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"剪切位点",16202,"0.47=14/30","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12309A(99)v27111",134,62,0.46,"12309A","ACACB","chr12:109629457","c.2184C>T(E13)","p.728,G>G","rs7135947",0.38,0.26,0.23,0.3,0.27,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"0.49=140/287","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12309A(99)v27112",101,100,0.99,"12309A","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%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"错义",12220,"0.99=185/186","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12309A(99)v27113",56,56,1,"12309A","ACACB","chr12:109617865","c.1791T>C(E10)","p.597,D>D","rs11065772",0.68,0.74,0.7,0.78,0.77,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=90/90","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12309A(99)v27114",24,24,1,"12309A","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%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093.3"]
["12309A(99)v22851",27,27,1,"12309A","ACAD10","chr12:112130708","IVS2+8A>G","非编码区","rs7132509",0.2,0.59,0.61,0.57,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,140,"非编码区",16203,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538.1"]
["12309A(99)v22852",7,7,1,"12309A","ACAD10","chr12:112191641","c.2976G>A(E20)","p.992,A>A","rs2074055",0.2,0.59,0.61,0.57,0.52,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,140,"同义",13203,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538.1"]
["12309A(99)v927",155,155,1,"12309A","ACAD11","chr3:132360883","c.470C>T(E4)","p.157,R>H","rs821572",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACAD11",1,270,"错义",12230,"1.00=284/285","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169.4"]
["12309A(99)v928",76,44,0.58,"12309A","ACAD11","chr3:132277866","c.2292G>A(E20)","p.764,I>I","rs2270801",0.089,0.11,0.11,0.12,0.095,0.098,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACAD11",1,270,"同义",13203,"0.60=76/127","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169.4"]
["12309A(99)v929",225,101,0.45,"12309A","ACAD11","chr3:132338346","c.1241T>G(E10)","p.414,K>T","rs41272321",0.094,0.15,0.15,0.14,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACAD11",1,270,"错义",12210,"0.45=186/417","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169.4"]
["12309A(99)v930",270,2,0.01,"12309A","ACAD11","chr3:132350251-132350251","c.775(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,4,0,"ACAD11",1,270,"缺失移码",2140,"0.01=2/313","位于基因组单拷贝区域+简单重复结构",84129,"3q22.1","NM_032169.4"]
["12309A(99)v30021",103,46,0.45,"12309A","ACAD9","chr3:128618283","c.787T>C(E7)","p.263,L>L","rs1979529",0.048,0.062,0.048,0.078,0.065,0.066,"杂合","未知","预测范围之外的同义突变",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,4,3,4,1,"ACAD9",1,120,"同义",13103,"0.43=67/156","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12309A(99)v30022",22,22,1,"12309A","ACAD9","chr3:128627021","IVS12-7A>G","剪切位点","rs1683787",0.52,0.64,0.66,0.62,0.6,0.65,"纯合","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",611126,5,1,4,1,"ACAD9",1,120,"剪切位点",16202,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12309A(99)v30023",60,60,1,"12309A","ACAD9","chr3:128614185","c.379A>C(E4)","p.127,R>R","rs1680778",0.54,0.65,0.67,0.64,0.58,0.66,"纯合","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",611126,5,1,4,1,"ACAD9",1,120,"同义",13203,"1.00=105/105","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12309A(99)v30024",14,5,0.36,"12309A","ACAD9","chr3:128627933","c.1476C>T(E14)","p.492,P>P","rs876755",0.31,0.58,0.61,0.54,0.5,0.58,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,4,1,"ACAD9",1,120,"同义",13203,"0.25=5/20","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049.4"]
["12309A(99)v14309",4,4,1,"12309A","ACADSB","chr10:124813543","m.1678C>T(E11)","非编码区","rs12248515",0.44,0.65,0.59,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,1,1,1,"ACADSB",1,250,"非编码区",14200,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",36,"10q26.13","NM_001609.3"]
["12309A(99)v17279",21,7,0.33,"12309A","ACADVL","chr17:7127718","IVS16+6T>C","剪切位点","rs17671352",0.52,0.47,0.46,0.48,0.52,0.48,"杂合","无关","有rs号，MAF>=5%",null,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,5,3,1,1,"ACADVL",0.95,69,"剪切位点",16201,"0.31=8/26","位于基因组单拷贝区域+DNA结构正常",37,"17p13.1","NM_000018.3"]
["12309A(99)v9862",75,75,1,"12309A","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",165800,4,1,8,3,"ACAN",1,85,"同义",13303,"0.99=123/124","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9862",75,75,1,"12309A","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",608361,4,1,8,3,"ACAN",1,85,"同义",13303,"0.99=123/124","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9862",75,75,1,"12309A","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,612813,4,1,8,3,"ACAN",1,85,"同义",13303,"0.99=123/124","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9863",13,13,1,"12309A","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",165800,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9863",13,13,1,"12309A","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",608361,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9863",13,13,1,"12309A","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,612813,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9864",40,40,1,"12309A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"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",165800,5,1,8,3,"ACAN",1,85,"错义",12210,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9864",40,40,1,"12309A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"错义",12210,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9864",40,40,1,"12309A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"错义",12210,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9865",55,55,1,"12309A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"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",165800,5,1,8,3,"ACAN",1,85,"错义",12220,"1.00=96/96","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9865",55,55,1,"12309A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"错义",12220,"1.00=96/96","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9865",55,55,1,"12309A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"错义",12220,"1.00=96/96","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9866",44,44,1,"12309A","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",165800,5,1,8,3,"ACAN",1,85,"错义",12220,"0.98=60/61","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9866",44,44,1,"12309A","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",608361,5,1,8,3,"ACAN",1,85,"错义",12220,"0.98=60/61","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9866",44,44,1,"12309A","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,612813,5,1,8,3,"ACAN",1,85,"错义",12220,"0.98=60/61","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9867",62,62,1,"12309A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"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",165800,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=109/109","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9867",62,62,1,"12309A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=109/109","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9867",62,62,1,"12309A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=109/109","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9868",23,23,1,"12309A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"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",165800,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9868",23,23,1,"12309A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9868",23,23,1,"12309A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_001135.3"]
["12309A(99)v9869",34,34,1,"12309A","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",165800,5,1,8,3,"ACAN",1,85,"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"]
["12309A(99)v9869",34,34,1,"12309A","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",608361,5,1,8,3,"ACAN",1,85,"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"]
["12309A(99)v9869",34,34,1,"12309A","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,612813,5,1,8,3,"ACAN",1,85,"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"]
["12309A(99)v3187",1,1,1,"12309A","ACAP2","chr3:194997620","m.5015C>T(E23)","非编码区","rs2000052",0.44,0.85,0.86,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACAP2",1,320,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23527,"3q29","NM_012287.5"]
["12309A(99)v3188",1,1,1,"12309A","ACAP2","chr3:194999609","m.3026G>T(E23)","非编码区","rs3087885",0.88,0.96,0.96,0.96,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACAP2",1,320,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23527,"3q29","NM_012287.5"]
["12309A(99)v3189",1,1,1,"12309A","ACAP2","chr3:194996737","m.5898A>G(E23)","非编码区","rs9863901",0.86,0.96,0.96,0.96,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACAP2",1,320,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23527,"3q29","NM_012287.5"]
["12309A(99)v3190",74,74,1,"12309A","ACAP2","chr3:194999996","m.2639T>A(E23)","非编码区","rs7610022",0.82,0.96,0.96,0.96,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACAP2",1,320,"非编码区",14200,"1.00=103/103","位于基因组单拷贝区域+DNA结构正常",23527,"3q29","NM_012287.5"]
["12309A(99)v17255",1,1,1,"12309A","ACAP3","chr1:1238612","c.155C>T(E3)","p.52,S>N",{"$nulls":7},"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACAP3",0.82,13,"错义",12420,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649.2"]
["12309A(99)v17256",28,19,0.68,"12309A","ACAP3","chr1:1233941","IVS11+6T>C","剪切位点","rs1739855",0.5,0.75,0.8,0.7,null,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAP3",0.82,13,"剪切位点",16202,"0.69=27/39","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649.2"]
["12309A(99)v30325",86,45,0.52,"12309A","ACAT2","chr6:160200026","m.1490A>C(E9)","非编码区","rs4832",0.26,0.43,0.42,0.43,null,0.4,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,180,"非编码区",14200,"0.52=67/129","位于基因组多拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12309A(99)v30326",62,26,0.42,"12309A","ACAT2","chr6:160196343","c.632A>G(E5)","p.211,K>R","rs25683",0.37,0.14,0.15,0.13,0.17,0.19,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,180,"错义",12220,"0.38=31/81","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12309A(99)v30327",106,105,0.99,"12309A","ACAT2","chr6:160199687","IVS8-4T>C","剪切位点","rs15982",0.68,0.57,0.57,0.56,null,0.58,"纯合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,1,4,1,"ACAT2",1,180,"剪切位点",16202,"0.99=172/173","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12309A(99)v30328",153,70,0.46,"12309A","ACAT2","chr6:160198359","c.783C>T(E7)","p.261,V>V","rs3464",0.26,0.43,0.42,0.43,0.42,0.39,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,180,"同义",13203,"0.47=119/251","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891.2"]
["12309A(99)v4539",37,36,0.97,"12309A","ACBD5","chr10:27529565","m.244T>C(E1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,240,"非编码区",14200,"0.98=57/58","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512.1"]
["12309A(99)v4540",115,51,0.44,"12309A","ACBD5","chr10:27508758","c.414T>C(E6)","p.138,P>P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,240,"同义",13203,"0.46=83/182","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001042473.2"]
["12309A(99)v4541",33,33,1,"12309A","ACBD5","chr10:27529549","m.260C>A(E1)","非编码区","rs2797078",0.68,0.51,0.48,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,240,"非编码区",14200,"0.98=52/53","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512.1"]
["12309A(99)v4542",115,66,0.57,"12309A","ACBD5","chr10:27508746","c.426G>A(E6)","p.142,T>T","rs12572325",0.069,0.12,0.09,0.16,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACBD5",1,240,"同义",13203,"0.55=99/181","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001042473.2"]
["12309A(99)v4543",1,1,1,"12309A","ACBD5","chr10:27485925","m.2078C>A(E13)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ACBD5",1,240,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001042473.2"]
["12309A(99)v5014",100,100,1,"12309A","ACCS","chr11:44096238","IVS5+7G>A","非编码区","rs178521",0.77,0.94,0.95,0.94,0.94,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACCS",1,85,"非编码区",16203,"1.00=196/196","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_001127219.1"]
["12309A(99)v27579",76,38,0.5,"12309A","ACCSL","chr11:44080210","c.1585T>C(E13)","p.529,C>R","rs2074051",0.79,0.87,0.87,0.88,0.86,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACCSL",1,130,"错义",12220,"0.54=64/119","位于基因组单拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854.2"]
["12309A(99)v22074",77,77,1,"12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22074",77,77,1,"12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22074",77,77,1,"12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22074",77,77,1,"12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22074",77,77,1,"12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22075",15,15,1,"12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22075",15,15,1,"12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22075",15,15,1,"12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22075",15,15,1,"12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22075",15,15,1,"12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22076",23,23,1,"12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22076",23,23,1,"12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22076",23,23,1,"12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22076",23,23,1,"12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22076",23,23,1,"12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22077",19,18,0.95,"12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22077",19,18,0.95,"12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22077",19,18,0.95,"12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22077",19,18,0.95,"12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22077",19,18,0.95,"12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789.3"]
["12309A(99)v22078",17,17,1,"12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12309A(99)v22078",17,17,1,"12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12309A(99)v22078",17,17,1,"12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12309A(99)v22078",17,17,1,"12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12309A(99)v22078",17,17,1,"12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057.1"]
["12309A(99)v25450",112,111,0.99,"12309A","ACE2","chrX:15610348","IVS4+4C>T","剪切位点","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ACE2",1,170,"剪切位点",16302,"0.99=182/183","位于基因组单拷贝区域+DNA结构正常",59272,"Xp22","NM_021804.2"]
["12309A(99)v27665",22,22,1,"12309A","ACER1","chr19:6312290","c.220T>C(E3)","p.74,M>V","rs72981971",0.16,0.37,0.36,0.39,0.33,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACER1",1,49,"错义",12220,"1.00=33/33","位于基因组单拷贝区域+DNA结构正常",125981,"19p13.3","NM_133492.2"]
["12309A(99)v30764",36,14,0.39,"12309A","ACIN1","chr14:23549383","c.1335G>T(E6)","p.445,A>A","rs45510791",0.052,0.13,0.13,0.12,0.1,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"同义",13203,"0.44=21/48","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12309A(99)v30765",35,13,0.37,"12309A","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%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"错义",12220,"0.46=27/59","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12309A(99)v30766",52,19,0.37,"12309A","ACIN1","chr14:23530622","c.3444T>C(E17)","p.1148,S>S","rs60168438",0.25,0.26,0.27,0.26,0.3,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"同义",13203,"0.29=22/77","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12309A(99)v30767",117,117,1,"12309A","ACIN1","chr14:23549785","c.933T>C(E6)","p.311,I>M","rs3811182",0.5,0.46,0.49,0.44,0.45,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"错义",12220,"0.99=185/186","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12309A(99)v30768",39,16,0.41,"12309A","ACIN1","chr14:23549285","c.1433G>A(E6)","p.478,S>F","rs3751501",0.052,0.13,0.13,0.12,0.099,0.12,"杂合","无关","有rs号，MAF>=5%",19139070,{"$nulls":3},5,null,8,0,"ACIN1",1,100,"错义",12220,"0.48=29/61","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12309A(99)v30769",36,35,0.97,"12309A","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%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"错义",12230,"0.98=46/47","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12309A(99)v30770",50,17,0.34,"12309A","ACIN1","chr14:23548783-23548784","c.1935(E6)至c.1934(E6):插入GAACGT","插入非移码","rs148403158",0.39,0.43,0.45,0.41,0.048,0.43,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ACIN1",1,100,"插入非移码",2222,"0.33=18/54","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_001164814.1"]
["12309A(99)v30771",101,49,0.49,"12309A","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",{"$nulls":4},4,null,8,0,"ACIN1",1,100,"缺失非移码",2222,"0.48=53/110","位于基因组单拷贝区域+简单重复结构",22985,"14q11.2","NM_001164814.1"]
["12309A(99)v17549",83,83,1,"12309A","ACLY","chr17:40024023","m.3509A>T(E29)","非编码区","rs7217218",0.92,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACLY",1,110,"非编码区",14200,"0.99=156/158","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096.2"]
["12309A(99)v17550",68,68,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ACLY",1,110,"同义",13203,"1.00=97/97","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096.2"]
["12309A(99)v13516",89,39,0.44,"12309A","ACO1","chr9:32425910","c.1263A>G(E11)","p.421,E>E","rs3780473",0.35,0.58,0.57,0.59,0.51,0.54,"杂合","无关","有rs号，MAF>=5%","18755042;20403199",{"$nulls":3},5,null,2,0,"ACO1",1,230,"同义",13203,"0.46=70/153","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197.2"]
["12309A(99)v13517",35,18,0.51,"12309A","ACO1","chr9:32450187","m.2903T>C(E21)","非编码区","rs12985",0.4,0.54,0.53,0.54,null,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACO1",1,230,"非编码区",14200,"0.49=22/45","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197.2"]
["12309A(99)v914",13,12,0.92,"12309A","ACO2","chr22:41903813","c.192A>C(E3)","p.64,T>T","rs137831",0.42,0.6,0.62,0.57,0.46,0.55,"纯合","无关","有rs号，MAF>=5%",null,"婴儿大脑-视网膜退化症","AR",614559,5,1,1,1,"ACO2",1,67,"同义",13203,"0.91=21/23","位于基因组多拷贝区域+DNA结构正常",50,"22q13.2","NM_001098.2"]
["12309A(99)v2374",21,11,0.52,"12309A","ACOT11","chr1:55062960","c.636G>A(E7)","p.212,M>I","rs2304305",0.03,0.091,0.1,0.083,0.095,0.13,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACOT11",0.98,46,"错义",12120,"0.50=20/40","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12309A(99)v2375",5,5,1,"12309A","ACOT11","chr1:55060224","IVS5-5G>A","剪切位点","rs1755591",0.2,0.16,0.16,0.16,null,0.21,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACOT11",0.98,46,"剪切位点",16202,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12309A(99)v2376",5,5,1,"12309A","ACOT11","chr1:55060362","c.605G>A(E6)","p.202,G>D","rs1702003",0.26,0.16,0.16,0.16,0.13,0.2,"纯合","无关","有rs号，MAF>=5%","15986317;16255080;19737746",{"$nulls":3},5,null,4,0,"ACOT11",0.98,46,"错义",12220,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_015547.3"]
["12309A(99)v2377",10,10,1,"12309A","ACOT11","chr1:55075993","m.3169G>A(E16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACOT11",0.98,46,"非编码区",14200,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161.3"]
["12309A(99)v10390",22,12,0.55,"12309A","ACOT13","chr6:24667323","m.61C>T(E1)","非编码区","rs17243157",0.11,0.062,0.048,0.078,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,250,"非编码区",14200,"0.57=13/23","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094.1"]
["12309A(99)v10391",68,68,1,"12309A","ACOT13","chr6:24687765","m.443A>G(E2)","非编码区","rs926529",0.8,0.87,0.88,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,250,"非编码区",14200,"1.00=89/89","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094.1"]
["12309A(99)v1003",24,24,1,"12309A","ACOT2","chr14:74041748","c.983A>G(E3)","p.328,H>R","rs149033118",{"$nulls":4},0.86,0.93,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ACOT2",0.84,85,"错义",12310,"1.00=26/26","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821.5"]
["12309A(99)v1004",68,68,1,"12309A","ACOT2","chr14:74042189","c.1424A>G(E3)","p.475,H>R","rs7494",{"$nulls":4},0.76,0.8,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ACOT2",0.84,85,"错义",12320,"1.00=102/102","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821.5"]
["12309A(99)v23466",58,58,1,"12309A","ACOT4","chr14:74061968","c.876T>C(E3)","p.292,I>I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT4",0.92,90,"同义",13203,"1.00=82/82","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331.3"]
["12309A(99)v23467",3,3,1,"12309A","ACOT4","chr14:74058832","c.169C>T(E1)","p.57,R>C","rs3742819",0.4,0.62,0.61,0.64,0.56,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT4",0.92,90,"错义",12220,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331.3"]
["12309A(99)v10195",62,62,1,"12309A","ACOT6","chr14:74083846","m.299C>T(E1)","非编码区","rs12891009",0.46,0.65,0.64,0.66,0.64,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACOT6",1,150,"非编码区",14200,"1.00=102/102","位于基因组单拷贝区域+DNA结构正常",641372,"14q24.3","NM_001037162.1"]
["12309A(99)v12755",2,1,0.5,"12309A","ACOX1","chr17:73941470","m.3877C>A(E14)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,3,3,2,1,"ACOX1",1,170,"非编码区",14400,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",51,"17q25.1","NM_001185039.1"]
["12309A(99)v12756",56,56,1,"12309A","ACOX1","chr17:73949540","c.822G>C(E7)","p.274,I>M","rs1135640",0.55,0.79,0.82,0.77,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,5,1,2,1,"ACOX1",1,170,"错义",12220,"1.00=73/73","位于基因组单拷贝区域+DNA结构正常",51,"17q25.1","NM_001185039.1"]
["12309A(99)v7806",22,8,0.36,"12309A","ACOX2","chr3:58512237","c.1302A>G(E10)","p.434,C>C","rs1127745",0.28,0.23,0.25,0.21,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"同义",13203,"0.40=17/43","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12309A(99)v7807",17,6,0.35,"12309A","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%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"同义",13203,"0.45=13/29","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12309A(99)v7808",36,36,1,"12309A","ACOX2","chr3:58520859","m.150A>G(E2)","非编码区","rs4681862",0.87,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"非编码区",14200,"1.00=66/66","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500.3"]
["12309A(99)v17982",53,26,0.49,"12309A","ACOX3","chr4:8368604","m.2211C>T(E17)","非编码区","rs708244",0.27,0.31,0.31,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOX3",1,110,"非编码区",14200,"0.54=39/72","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_001101667.1"]
["12309A(99)v17983",34,15,0.44,"12309A","ACOX3","chr4:8375342","c.1842G>A(E16)","p.614,S>S","rs2280571",0.14,0.14,0.13,0.16,0.12,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOX3",1,110,"同义",13203,"0.41=24/59","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_003501.2"]
["12309A(99)v19203",146,73,0.5,"12309A","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%",{"$nulls":4},5,null,2,0,"ACOXL",1,170,"错义",12210,"0.48=127/264","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807.1"]
["12309A(99)v19204",142,71,0.5,"12309A","ACOXL","chr2:111598958","c.764C>T(E10)","p.255,T>M","rs1554005",0.18,0.15,0.17,0.13,0.14,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOXL",1,170,"错义",12210,"0.50=123/248","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807.1"]
["12309A(99)v3200",4,4,1,"12309A","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%",{"$nulls":4},5,null,1,0,"ACP1",1,210,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_001040649.2"]
["12309A(99)v12921",56,56,1,"12309A","ACP2","chr11:47270255","c.86C>T(E1)","p.29,R>Q","rs2167079",0.52,0.75,0.79,0.71,0.66,0.76,"纯合","无关","有rs号，MAF>=5%","17357082;19060910","酸性磷酸酶缺乏症","AR",200950,5,1,1,1,"ACP2",1,68,"错义",12220,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",53,"11p11.2|11p12-p11","NM_001131064.1"]
["12309A(99)v26173",12,5,0.42,"12309A","ACP5","chr19:11685775","m.1308A>T(E6)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"脊柱软骨发育不全伴免疫失调","AD,AR",607944,3,1,1,1,"ACP5",1,44,"非编码区",14400,"0.45=9/20","位于基因组单拷贝区域+DNA结构正常",54,"19p13.3-p13.2","NM_001111034.1"]
["12309A(99)v11546",114,50,0.44,"12309A","ACP6","chr1:147131501","IVS3+10A>T","非编码区","rs34675044",0.26,0.099,0.11,0.087,null,0.094,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACP6",0.99,160,"非编码区",16203,"0.43=74/174","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12309A(99)v11547",1,1,1,"12309A","ACP6","chr1:147142296","m.339T>C(E1)","非编码区","rs2883202",0.48,0.61,0.58,0.65,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACP6",0.99,160,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12309A(99)v11548",122,64,0.52,"12309A","ACP6","chr1:147119273","c.1239G>A(E10)","p.413,H>H","rs1344",0.48,0.39,0.43,0.34,0.33,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACP6",0.99,160,"同义",13203,"0.55=110/201","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12309A(99)v11549",43,43,1,"12309A","ACP6","chr1:147124310","c.823T>G(E7)","p.275,R>R","rs2153463",{"$nulls":4},0.7,0.71,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ACP6",0.99,160,"同义",13303,"1.00=80/80","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12309A(99)v11550",72,72,1,"12309A","ACP6","chr1:147121977","c.946C>T(E8)","p.316,V>M","rs6593795",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACP6",0.99,160,"错义",12220,"1.00=136/136","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361.3"]
["12309A(99)v1636",54,54,1,"12309A","ACPL2","chr3:141011630","c.1026C>T(E6)","p.342,F>F","rs3210458",0.1,0.13,0.11,0.14,0.091,0.1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPL2",1,140,"同义",13203,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",92370,"3q23","NM_001037172.1"]
["12309A(99)v1637",125,60,0.48,"12309A","ACPL2","chr3:140998214","IVS3-6G>A","剪切位点","rs13087169",0.57,0.52,0.5,0.53,null,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPL2",1,140,"剪切位点",16202,"0.48=96/202","位于基因组单拷贝区域+DNA结构正常",92370,"3q23","NM_001037172.1"]
["12309A(99)v21629",5,5,1,"12309A","ACPP","chr3:132086825","m.1506G>A(E11)","非编码区","rs2198765",0.52,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACPP",1,210,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",55,"3q22.1","NM_001134194.1"]
["12309A(99)v12922",29,29,1,"12309A","ACPT","chr19:51297826","c.974C>A(E9)","p.325,A>D","rs55735528",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACPT",0.96,18,"错义",12220,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068.2"]
["12309A(99)v12923",9,1,0.11,"12309A","ACPT","chr19:51295541","c.592G>T(E6)","p.198,V>F",{"$nulls":6},0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ACPT",0.96,18,"错义",12420,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068.2"]
["12309A(99)v12924",28,28,1,"12309A","ACPT","chr19:51297825","c.973G>A(E9)","p.325,A>T","rs55716643",0.33,0.68,0.67,0.68,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACPT",0.96,18,"错义",12220,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068.2"]
["12309A(99)v2237",72,59,0.82,"12309A","ACR","chr22:51183255","c.886A>G(E5)","p.296,M>V","rs5771002",0.73,0.82,0.8,0.84,0.71,0.81,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,79,"错义",12220,"0.79=87/110","位于基因组多拷贝区域+DNA结构正常",49,"22q13.33","NM_001097.2"]
["12309A(99)v2238",61,61,1,"12309A","ACR","chr22:51182485","IVS3-4A>G","剪切位点","rs6009961",0.64,0.4,0.39,0.42,null,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,79,"剪切位点",16202,"1.00=93/93","位于基因组多拷贝区域+DNA结构正常",49,"22q13.33","NM_001097.2"]
["12309A(99)v13340",18,18,1,"12309A","ACRBP","chr12:6747295","m.1833G>A(E10)","非编码区","rs1045553",0.64,0.59,0.59,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACRBP",1,97,"非编码区",14200,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489.2"]
["12309A(99)v13341",37,37,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ACRBP",1,97,"剪切位点",16202,"1.00=52/52","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489.2"]
["12309A(99)v8463",162,161,0.99,"12309A","ACSBG2","chr19:6156483","c.428T>C(E5)","p.143,V>A","rs4807840",0.71,0.72,0.75,0.69,0.69,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSBG2",1,160,"错义",12220,"1.00=327/328","位于基因组单拷贝区域+DNA结构正常",81616,"19p13.3","NM_030924.3"]
["12309A(99)v24871",21,12,0.57,"12309A","ACSF2","chr17:48549791","c.1326C>G(E12)","p.442,A>A","rs2305998",0.19,0.13,0.13,0.13,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSF2",1,79,"剪切位点",13202,"0.58=18/31","位于基因组单拷贝区域+DNA结构正常",80221,"17q21.33","NM_025149.4"]
["12309A(99)v24872",7,1,0.14,"12309A","ACSF2","chr17:48503637","c.15C>T(E1)","p.5,V>V",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACSF2",1,79,"同义",13403,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",80221,"17q21.33","NM_025149.4"]
["12309A(99)v22926",5,4,0.8,"12309A","ACSF3","chr16:89180883","c.1114G>A(E5)","p.372,V>M","rs3743979",0.63,0.46,0.4,0.51,0.42,0.48,"杂合","无关","有rs号，MAF>=5%",19875614,"联合丙二酸和甲基丙二酸尿症",null,614265,5,2,2,1,"ACSF3",1,48,"错义",12220,"0.90=9/10","位于基因组单拷贝区域+DNA结构正常",197322,"16q24.3","NM_001127214.2"]
["12309A(99)v22927",8,5,0.62,"12309A","ACSF3","chr16:89180765","c.996A>T(E5)","p.332,S>S","rs75591977",0.05,0.13,0.13,0.13,0.093,0.13,"杂合","未知","预测范围之外的同义突变",null,"联合丙二酸和甲基丙二酸尿症",null,614265,4,2,2,1,"ACSF3",1,48,"同义",13103,"0.67=8/12","位于基因组单拷贝区域+DNA结构正常",197322,"16q24.3","NM_001127214.2"]
["12309A(99)v2679",3,3,1,"12309A","ACSL1","chr4:185677952","m.2602G>A(E21)","非编码区","rs4862412",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12309A(99)v2680",82,82,1,"12309A","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%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"同义",13203,"1.00=137/137","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12309A(99)v2681",25,9,0.36,"12309A","ACSL1","chr4:185678110","m.2444A>G(E21)","非编码区","rs2292899",0.4,0.65,0.66,0.64,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"0.36=10/28","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12309A(99)v2682",30,30,1,"12309A","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%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995.2"]
["12309A(99)v24180",133,133,1,"12309A","ACSL3","chr2:223787559","IVS9+10G>A","非编码区","rs11891410",0.9,0.96,0.96,0.96,null,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSL3",1,320,"非编码区",16203,"1.00=217/218","位于基因组单拷贝区域+DNA结构正常",2181,"2q34-q35","NM_004457.3"]
["12309A(99)v21596",1,1,1,"12309A","ACSL5","chr10:114187787","m.3003T>C(E21)","非编码区","rs8624",0.37,0.34,0.32,0.35,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSL5",1,200,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",51703,"10q25.1-q25.2","NM_016234.3"]
["12309A(99)v21597",90,89,0.99,"12309A","ACSL5","chr10:114186624","IVS20+7G>A","非编码区","rs2256368",0.96,0.99,0.99,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSL5",1,200,"非编码区",16203,"0.99=163/164","位于基因组单拷贝区域+DNA结构正常",51703,"10q25.1-q25.2","NM_016234.3"]
["12309A(99)v22549",118,56,0.47,"12309A","ACSM1","chr16:20648702","c.1188G>A(E8)","p.396,Y>Y","rs151328",0.35,0.37,0.38,0.35,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"同义",13203,"0.45=101/224","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12309A(99)v22550",14,3,0.21,"12309A","ACSM1","chr16:20636814","c.1458G>A(E11)","p.486,S>S","rs2301672",0.18,0.5,0.46,0.53,0.4,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"同义",13203,"0.24=6/25","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12309A(99)v22551",116,116,1,"12309A","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%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"同义",13203,"1.00=198/198","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12309A(99)v22552",112,62,0.55,"12309A","ACSM1","chr16:20635418","c.1647C>T(E12)","p.549,K>K","rs3743690",0.18,0.5,0.46,0.53,0.46,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"剪切位点",13201,"0.61=119/196","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12309A(99)v22553",84,46,0.55,"12309A","ACSM1","chr16:20634775","m.1835T>C(E13)","非编码区","rs3087812",0.35,0.37,0.37,0.36,null,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"非编码区",14200,"0.54=69/127","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956.2"]
["12309A(99)v6572",82,67,0.82,"12309A","ACSM2A","chr16:20476852","c.191T>C(E4)","p.64,L>P","rs7187246",0.51,0.73,0.68,0.78,0.65,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"错义",12220,"0.80=117/146","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12309A(99)v6573",82,48,0.59,"12309A","ACSM2A","chr16:20498079","m.2052T>G(E15)","非编码区","rs2072080",0.79,0.6,0.63,0.57,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"非编码区",14200,"0.58=61/106","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12309A(99)v6574",174,83,0.48,"12309A","ACSM2A","chr16:20471450","c.14G>A(E3)","p.5,R>Q","rs59292608",0.17,0.36,0.34,0.38,0.36,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"错义",12220,"0.45=118/263","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12309A(99)v6575",182,181,0.99,"12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"错义",12230,"0.99=229/231","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12309A(99)v6576",225,201,0.89,"12309A","ACSM2A","chr16:20488696","c.1104A>G(E10)","p.368,L>L","rs1700805",0.48,0.74,0.68,0.81,0.63,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"同义",13203,"0.84=313/372","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12309A(99)v6577",103,40,0.39,"12309A","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",{"$nulls":4},1,null,6,0,"ACSM2A",1,280,"截断",15100,"0.35=61/175","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845.2"]
["12309A(99)v23855",128,64,0.5,"12309A","ACSM2B","chr16:20552075","c.1530G>T(E13)","p.510,I>I","rs16970280",0.71,0.47,0.49,0.46,0.48,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"同义",13203,"0.51=119/233","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12309A(99)v23856",254,123,0.48,"12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"同义",13203,"0.47=223/471","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12309A(99)v23857",12,3,0.25,"12309A","ACSM2B","chr16:20548334","m.2155C>T(E14)","非编码区","rs7404298",0.81,0.67,0.72,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"非编码区",14200,"0.23=3/13","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12309A(99)v23858",65,65,1,"12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"错义",12220,"1.00=82/82","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12309A(99)v23859",185,93,0.5,"12309A","ACSM2B","chr16:20563528","c.832T>C(E6)","p.278,T>A","rs77863699",0.15,0.17,0.14,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"错义",12220,"0.50=178/359","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12309A(99)v23860",100,55,0.55,"12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"同义",13203,"0.57=86/152","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_001105069.1"]
["12309A(99)v16311",106,59,0.56,"12309A","ACSM3","chr16:20792188","IVS5+9T>C","非编码区","rs5715",0.63,0.43,0.46,0.4,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSM3",1,300,"非编码区",16203,"0.49=82/168","位于基因组单拷贝区域+DNA结构正常",6296,"16p13.11","NM_005622.3"]
["12309A(99)v6601",63,37,0.59,"12309A","ACSM4","chr12:7459340","IVS2+1G>A","剪切位点",{"$nulls":7},"杂合","较高","突变在经典剪切位点上",{"$nulls":4},1,null,2,0,"ACSM4",1,200,"剪切位点",16404,"0.59=57/96","位于基因组单拷贝区域+DNA结构正常",341392,"12p13.31","NM_001080454.1"]
["12309A(99)v6602",61,61,1,"12309A","ACSM4","chr12:7463241","c.519A>T(E3)","p.173,P>P","rs7968241",null,0.39,0.38,0.4,0.41,0.38,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACSM4",1,200,"同义",13303,"0.99=116/117","位于基因组多拷贝区域+DNA结构正常",341392,"12p13.31","NM_001080454.1"]
["12309A(99)v14003",55,55,1,"12309A","ACSM5","chr16:20441053","c.1055C>G(E8)","p.352,P>R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM5",1,150,"错义",12210,"1.00=80/80","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12309A(99)v14004",63,63,1,"12309A","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%",{"$nulls":4},5,null,5,0,"ACSM5",1,150,"同义",13203,"1.00=94/94","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12309A(99)v14005",119,38,0.32,"12309A","ACSM5","chr16:20442613","c.1278T>C(E10)","p.426,T>T","rs77351186",{"$nulls":4},0.37,0.46,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ACSM5",1,150,"同义",13303,"0.37=83/224","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12309A(99)v14006",124,38,0.31,"12309A","ACSM5","chr16:20442608","c.1273C>A(E10)","p.425,P>T","rs79364355",{"$nulls":4},0.37,0.46,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,5,0,"ACSM5",1,150,"错义",12310,"0.36=81/224","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12309A(99)v14007",20,1,0.05,"12309A","ACSM5","chr16:20429581-20429582","c.405(E3)至c.406(E3):插入ATGCGG","插入非移码","rs530730971",0.0008,0,0,0,null,0.015,"杂合","未知","未知",{"$nulls":4},3,null,5,0,"ACSM5",1,150,"插入非移码",2213,"0.04=1/28","位于基因组单拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888.2"]
["12309A(99)v6175",1,1,1,"12309A","ACSS1","chr20:24987015","m.3527C>A(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,"ACSS1",0.97,73,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",84532,"20p11.23-p11.21","NM_001252675.1"]
["12309A(99)v6176",13,13,1,"12309A","ACSS1","chr20:25038484","c.255G>T(E1)","p.85,T>T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACSS1",0.97,73,"同义",13203,"1.00=20/20","位于基因组单拷贝区域+DNA结构正常",84532,"20p11.23-p11.21","NM_001252675.1"]
["12309A(99)v11670",9,1,0.11,"12309A","ACTA1","chr1:229567755","c.794T>C(E5)","p.265,Q>R",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"3型杆状体肌病","AD,AR",161800,2,1,1,2,"ACTA1",1,33,"错义",12410,"0.18=2/11","位于基因组多拷贝区域+DNA结构正常",58,"1q42.13","NM_001100.3"]
["12309A(99)v11670",9,1,0.11,"12309A","ACTA1","chr1:229567755","c.794T>C(E5)","p.265,Q>R",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"先天肌纤维不对称性肌病/先天性肌病伴肌型比例失调","AD",255310,2,1,1,2,"ACTA1",1,33,"错义",12410,"0.18=2/11","位于基因组多拷贝区域+DNA结构正常",58,"1q42.13","NM_001100.3"]
["12309A(99)v31314",3,2,0.67,"12309A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"多系统平滑肌功能障碍综合征","AD",613834,5,1,1,3,"ACTA2",1,160,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945.1"]
["12309A(99)v31314",3,2,0.67,"12309A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"家族性胸主动脉瘤6型",null,611788,5,2,1,3,"ACTA2",1,160,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945.1"]
["12309A(99)v31314",3,2,0.67,"12309A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"烟雾病5型",null,614042,5,2,1,3,"ACTA2",1,160,"非编码区",14200,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945.1"]
["12309A(99)v23010",47,21,0.45,"12309A","ACTB","chr7:5567307","m.1284A>T(E6)","非编码区","rs147293109",0.0052,0.036,0.038,0.034,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"青少年肌张力障碍","AD",607371,3,1,1,2,"ACTB",1,60,"非编码区",14100,"0.44=28/64","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101.3"]
["12309A(99)v23010",47,21,0.45,"12309A","ACTB","chr7:5567307","m.1284A>T(E6)","非编码区","rs147293109",0.0052,0.036,0.038,0.034,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"Baraitser-Winter综合征1","AD",243310,3,1,1,2,"ACTB",1,60,"非编码区",14100,"0.44=28/64","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101.3"]
["12309A(99)v11963",28,13,0.46,"12309A","ACTG1","chr17:79479366","c.15G>T(E2)","p.5,I>I","rs199657153",{"$nulls":4},3.8E-3,0.0027,"杂合","未知","预测范围之外的同义突变",null,"常染色体显性遗传性耳聋20型","AD",604717,4,1,3,2,"ACTG1",1,45,"同义",13303,"0.47=22/47","位于基因组单拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12309A(99)v11963",28,13,0.46,"12309A","ACTG1","chr17:79479366","c.15G>T(E2)","p.5,I>I","rs199657153",{"$nulls":4},3.8E-3,0.0027,"杂合","未知","预测范围之外的同义突变",null,"Baraitser-Winter综合征2",null,614583,4,2,3,2,"ACTG1",1,45,"同义",13303,"0.47=22/47","位于基因组单拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12309A(99)v11964",32,32,1,"12309A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性耳聋20型","AD",604717,5,1,3,2,"ACTG1",1,45,"同义",13203,"1.00=51/51","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12309A(99)v11964",32,32,1,"12309A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Baraitser-Winter综合征2",null,614583,5,1,3,2,"ACTG1",1,45,"同义",13203,"1.00=51/51","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12309A(99)v11965",18,1,0.06,"12309A","ACTG1","chr17:79479177","IVS2-9G>T","剪切位点","rs376850595",{"$nulls":6},"杂合","可能相关","mRNA剪接可能会受影响",null,"常染色体显性遗传性耳聋20型","AD",604717,2,1,3,2,"ACTG1",1,45,"剪切位点",16301,"0.14=4/29","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12309A(99)v11965",18,1,0.06,"12309A","ACTG1","chr17:79479177","IVS2-9G>T","剪切位点","rs376850595",{"$nulls":6},"杂合","可能相关","mRNA剪接可能会受影响",null,"Baraitser-Winter综合征2",null,614583,2,2,3,2,"ACTG1",1,45,"剪切位点",16301,"0.14=4/29","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954.1"]
["12309A(99)v15089",90,90,1,"12309A","ACTG2","chr2:74135797","IVS2-3T>C","剪切位点","rs702461",0.58,0.59,0.61,0.57,null,0.49,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"剪切位点",16202,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12309A(99)v15090",105,105,1,"12309A","ACTG2","chr2:74135898","c.225A>G(E3)","p.75,E>E","rs756128",0.57,0.59,0.61,0.57,0.52,0.49,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"同义",13203,"0.99=165/166","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12309A(99)v15091",14,14,1,"12309A","ACTG2","chr2:74128433","m.117C>T(E2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,null,0.56,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"非编码区",14200,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001199893.1"]
["12309A(99)v10719",2,2,1,"12309A","ACTL10","chr20:32254831","m.528G>T(E1)","非编码区","rs7263119",0.66,0.8,0.79,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL10",0.75,2.7,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",170487,"20q11.22","NM_001024675.1"]
["12309A(99)v27983",146,146,1,"12309A","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",{"$nulls":4},4,null,2,0,"ACTL6A",1,350,"同义",13303,"1.00=279/279","位于基因组单拷贝区域+DNA结构正常",86,"3q26.33","NM_004301.3"]
["12309A(99)v27984",3,1,0.33,"12309A","ACTL6A","chr3:179280865","m.158C>T(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ACTL6A",1,350,"非编码区",14400,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",86,"3q26.33","NM_004301.3"]
["12309A(99)v14252",11,11,1,"12309A","ACTL6B","chr7:100240771","m.1486A>T(E14)","非编码区","rs1052897",0.89,0.91,0.9,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL6B",0.98,44,"非编码区",14200,"0.94=15/16","位于基因组单拷贝区域+DNA结构正常",51412,"7q22","NM_016188.4"]
["12309A(99)v26563",16,16,1,"12309A","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%",{"$nulls":4},5,null,1,0,"ACTL7A",1,77,"非编码区",14200,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",10881,"9q31","NM_006687.2"]
["12309A(99)v28002",5,1,0.2,"12309A","ACTL7B","chr9:111617569","c.642C>T(E1)","p.214,V>V",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACTL7B",0.84,8,"同义",13403,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",10880,"9q31","NM_006686.3"]
["12309A(99)v22156",35,35,1,"12309A","ACTL8","chr1:18149566","c.63C>A(E2)","p.21,G>G","rs2296035",0.48,0.68,0.7,0.67,0.62,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL8",1,32,"同义",13203,"1.00=53/53","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812.2"]
["12309A(99)v4785",9,9,1,"12309A","ACTL9","chr19:8808942","c.110A>G(E1)","p.37,F>S","rs2340550",0.79,0.85,0.86,0.84,0.79,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL9",0.98,6.7,"错义",12220,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525.3"]
["12309A(99)v4786",13,13,1,"12309A","ACTL9","chr19:8808900","c.152A>G(E1)","p.51,V>A","rs10410943",null,0.85,0.86,0.84,0.8,0.86,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ACTL9",0.98,6.7,"错义",12320,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525.3"]
["12309A(99)v4787",3,3,1,"12309A","ACTL9","chr19:8808373","c.679G>T(E1)","p.227,H>N","rs4804079",0.6,0.68,0.66,0.7,0.54,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL9",0.98,6.7,"错义",12220,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525.3"]
["12309A(99)v19596",83,43,0.52,"12309A","ACTN1","chr14:69378863","IVS4+10A>G","非编码区","rs2070280",0.32,0.63,0.66,0.61,0.66,0.63,"杂合","无关","有rs号，MAF>=5%",null,"血小板型出血性疾病","AD",615193,5,1,2,1,"ACTN1",1,71,"非编码区",16203,"0.55=76/137","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001102.3"]
["12309A(99)v19597",14,1,0.07,"12309A","ACTN1","chr14:69445858-69445859","m.226(E1)至m.225(E1):插入GGGCT","非编码区","rs145260230",0.44,0.81,0.79,0.84,0.071,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"血小板型出血性疾病","AD",615193,4,1,2,1,"ACTN1",1,71,"非编码区",2420,"0.06=1/18","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001102.3"]
["12309A(99)v5954",8,8,1,"12309A","ACTN2","chr1:236926030","m.3000A>G(E21)","非编码区","rs1051251",0.35,0.37,0.35,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,150,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12309A(99)v5955",143,143,1,"12309A","ACTN2","chr1:236883421","c.378C>T(E4)","p.126,N>N","rs1341863",0.92,0.98,0.99,0.97,0.94,0.98,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,150,"同义",13203,"1.00=246/246","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12309A(99)v5956",9,4,0.44,"12309A","ACTN2","chr1:236849979","c.6C>A(E1)","p.2,N>K",{"$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,"0.33=5/15","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12309A(99)v5957",117,117,1,"12309A","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=194/194","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12309A(99)v5958",29,29,1,"12309A","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,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103.2"]
["12309A(99)v8151",70,69,0.99,"12309A","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",0.94,49,"同义",13203,"0.99=136/137","位于基因组单拷贝区域+DNA结构正常",81,"19q13","NM_004924.4"]
["12309A(99)v8435",5,3,0.6,"12309A","ACTR10","chr14:58666882","m.50A>G(E1)","非编码区","rs61975916",0.38,0.38,0.41,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTR10",1,370,"非编码区",14200,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",55860,"14q23.1","NM_018477.2"]
["12309A(99)v30362",19,5,0.26,"12309A","ACTR1B","chr2:98274527","c.804G>C(E8)","p.268,V>V","rs1042705",0.53,0.38,0.33,0.43,0.36,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTR1B",1,58,"同义",13203,"0.23=6/26","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735.3"]
["12309A(99)v30363",53,24,0.45,"12309A","ACTR1B","chr2:98273661","IVS9-6A>G","剪切位点","rs2290124",0.53,0.38,0.33,0.43,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTR1B",1,58,"剪切位点",16202,"0.41=31/76","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735.3"]
["12309A(99)v19955",5,5,1,"12309A","ACTR2","chr2:65496187","m.1734G>A(E10)","非编码区","rs12560",0.4,0.74,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",14200,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12309A(99)v19956",20,20,1,"12309A","ACTR2","chr2:65496018","m.1565C>G(E10)","非编码区","rs11424",0.4,0.74,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",14200,"1.00=22/22","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12309A(99)v19957",138,138,1,"12309A","ACTR2","chr2:65495887","m.1434G>A(E10)","非编码区","rs268875",0.81,0.73,0.72,0.73,null,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",14200,"1.00=227/227","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12309A(99)v19958",129,128,0.99,"12309A","ACTR2","chr2:65481008","IVS6+10A>C","非编码区","rs268871",0.79,0.81,0.8,0.82,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",16203,"0.98=234/238","位于基因组单拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12309A(99)v19959",5,5,1,"12309A","ACTR2","chr2:65496144","m.1691A>G(E10)","非编码区","rs190577",0.81,0.8,0.79,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",14200,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386.2"]
["12309A(99)v4057",224,1,0,"12309A","ACTR3","chr2:114709420-114709420","c.1075(E10):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,"ACTR3",0.96,350,"缺失移码",2140,"0.01=2/255","位于基因组单拷贝区域+DNA结构正常",10096,"2q14.1","NM_005721.3"]
["12309A(99)v16942",9,6,0.67,"12309A","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",{"$nulls":4},3,null,3,0,"ACTR5",0.79,110,"非编码区",14100,"0.69=9/13","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12309A(99)v16943",12,7,0.58,"12309A","ACTR5","chr20:37400490","m.1880G>A(E9)","非编码区","rs6128952",0.16,0.14,0.14,0.15,null,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,110,"非编码区",14200,"0.62=10/16","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12309A(99)v16944",139,62,0.45,"12309A","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%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,110,"错义",12220,"0.44=109/247","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855.3"]
["12309A(99)v16256",66,66,1,"12309A","ACTR8","chr3:53905308","c.1518T>C(E11)","p.506,G>G","rs1046677",0.69,0.94,0.93,0.96,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR8",1,200,"同义",13203,"0.99=96/97","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12309A(99)v16257",122,121,0.99,"12309A","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%",{"$nulls":4},5,null,4,0,"ACTR8",1,200,"同义",13203,"1.00=210/211","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12309A(99)v16258",105,105,1,"12309A","ACTR8","chr3:53914093","c.167G>A(E2)","p.56,T>I","rs3733082",0.11,0.094,0.1,0.087,0.12,0.13,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR8",1,200,"错义",12220,"1.00=155/155","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12309A(99)v16259",58,58,1,"12309A","ACTR8","chr3:53911783","IVS3-5A>G","剪切位点","rs2276842",0.14,0.21,0.21,0.21,null,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR8",1,200,"剪切位点",16202,"1.00=92/92","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899.4"]
["12309A(99)v26387",33,1,0.03,"12309A","ACTRT2","chr1:2939437","m.1392G>T(E1)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ACTRT2",1,40,"非编码区",14400,"0.12=8/69","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12309A(99)v26388",9,9,1,"12309A","ACTRT2","chr1:2938989","c.739G>A(E1)","p.247,G>R","rs3795263",0.12,0.13,0.14,0.12,0.11,0.14,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT2",1,40,"错义",12210,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431.4"]
["12309A(99)v1565",2,2,1,"12309A","ACTRT3","chr3:169487501","m.183T>C(E1)","非编码区","rs9811216",0.38,0.7,0.68,0.72,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,180,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487.4"]
["12309A(99)v1566",57,56,0.98,"12309A","ACTRT3","chr3:169486144","IVS1-6A>G","剪切位点","rs9822885",0.43,0.7,0.68,0.72,null,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,180,"剪切位点",16202,"0.99=94/95","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487.4"]
["12309A(99)v10891",140,139,0.99,"12309A","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",1,220,"同义",13203,"1.00=249/250","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105.4"]
["12309A(99)v10892",44,44,1,"12309A","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",1,220,"同义",13203,"0.99=68/69","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105.4"]
["12309A(99)v21431",1,1,1,"12309A","ACVR1C","chr2:158388779","m.3261T>C(E9)","非编码区","rs12993800",0.71,0.91,0.94,0.88,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACVR1C",0.95,250,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_001111031.1"]
["12309A(99)v21432",222,222,1,"12309A","ACVR1C","chr2:158395079","IVS8+6C>G","剪切位点","rs7576514",0.84,0.92,0.95,0.9,null,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACVR1C",0.95,250,"剪切位点",16202,"1.00=398/399","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_001111031.1"]
["12309A(99)v21433",136,72,0.53,"12309A","ACVR1C","chr2:158443889","c.114G>A(E2)","p.38,F>F","rs4556933",0.44,0.32,0.34,0.31,0.31,0.31,"杂合","无关","有rs号，MAF>=5%",18781190,{"$nulls":3},5,null,3,0,"ACVR1C",0.95,250,"同义",13203,"0.53=136/255","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_001111032.1"]
["12309A(99)v9143",150,69,0.46,"12309A","ACVR2A","chr2:148657117","c.354G>A(E3)","p.118,P>P","rs1128919",0.35,0.48,0.52,0.44,0.51,0.52,"杂合","无关","有rs号，MAF>=5%",19126782,{"$nulls":3},5,null,1,0,"ACVR2A",1,260,"同义",13203,"0.43=111/260","位于基因组单拷贝区域+DNA结构正常",92,"2q22.3","NM_001616.3"]
["12309A(99)v23045",6,1,0.17,"12309A","ACVR2B","chr3:38524929","m.1669G>T(E11)","非编码区","rs555666683",0.0004,0,0,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"常染色体遗传的内脏异位4型",null,613751,3,2,1,1,"ACVR2B",0.97,74,"非编码区",14100,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",93,"3p22","NM_001106.3"]
["12309A(99)v19948",2,2,1,"12309A","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%",{"$nulls":4},5,null,1,0,"ACY3",1,36,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",91703,"11q13.2","NM_080658.1"]
["12309A(99)v14077",95,94,0.99,"12309A","ACYP1","chr14:75520065","m.470T>C(E3)","非编码区","rs7303",0.5,0.83,0.82,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACYP1",1,190,"非编码区",14200,"0.99=131/132","位于基因组单拷贝区域+DNA结构正常",97,"14q24.3","NM_001107.3"]
["12309A(99)v13895",74,73,0.99,"12309A","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",102700,5,1,2,1,"ADA",0.97,97,"剪切位点",13202,"0.99=125/126","位于基因组单拷贝区域+DNA结构正常",100,"20q13.12","NM_000022.2"]
["12309A(99)v13896",50,27,0.54,"12309A","ADA","chr20:43252915","c.534T>C(E6)","p.178,V>V","rs244076",0.27,0.14,0.12,0.17,0.16,0.15,"杂合","无关","有rs号，MAF>=5%",19902562,"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",102700,5,3,2,1,"ADA",0.97,97,"同义",13203,"0.51=41/80","位于基因组单拷贝区域+DNA结构正常",100,"20q13.12","NM_000022.2"]
["12309A(99)v7348",5,1,0.2,"12309A","ADAD2","chr16:84230335","c.1609C>T(E9)","p.537,P>S",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ADAD2",0.95,16,"错义",12420,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12309A(99)v7349",2,2,1,"12309A","ADAD2","chr16:84229580","c.1212C>T(E7)","p.404,A>A","rs2303239",0.29,0.3,0.25,0.34,0.23,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAD2",0.95,16,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12309A(99)v7350",2,2,1,"12309A","ADAD2","chr16:84229559","c.1191T>C(E7)","p.397,S>S","rs2303238",0.81,0.71,0.69,0.73,0.58,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAD2",0.95,16,"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"]
["12309A(99)v7351",2,1,0.5,"12309A","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%",{"$nulls":4},5,null,4,0,"ADAD2",0.95,16,"剪切位点",16201,"0.33=1/3","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_001145400.1"]
["12309A(99)v11916",28,28,1,"12309A","ADAM11","chr17:42855554","c.2220T>C(E25)","p.740,I>I","rs2070605",0.65,0.77,0.76,0.79,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12309A(99)v11917",9,9,1,"12309A","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%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12309A(99)v11918",11,11,1,"12309A","ADAM11","chr17:42852610","c.1251T>C(E15)","p.417,C>C","rs1558084",0.9,0.87,0.87,0.87,0.83,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12309A(99)v11919",6,6,1,"12309A","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%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12309A(99)v11920",11,11,1,"12309A","ADAM11","chr17:42852604","c.1245G>T(E15)","p.415,S>S","rs1558083",0.65,0.77,0.76,0.79,0.77,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390.4"]
["12309A(99)v24006",40,23,0.57,"12309A","ADAM12","chr10:127737918","c.1830T>A(E16)","p.610,G>G","rs184387932",0.0004,0.0048,0.0095,0,0.0057,0.0065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAM12",0.97,160,"同义",13103,"0.61=37/61","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12309A(99)v24007",44,44,1,"12309A","ADAM12","chr10:127724778","c.2475A>G(E21)","p.825,A>A","rs1044122",0.27,0.45,0.47,0.44,0.38,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM12",0.97,160,"同义",13203,"1.00=67/67","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12309A(99)v24008",185,98,0.53,"12309A","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",{"$nulls":3},3,null,3,0,"ADAM12",0.97,160,"错义",12320,"0.51=165/323","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474.4"]
["12309A(99)v31476",15,1,0.07,"12309A","ADAM15","chr1:155029701","c.1216C>T(E12)","p.406,R>W",{"$nulls":6},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ADAM15",0.96,46,"错义",12410,"0.17=4/23","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_001261464.1"]
["12309A(99)v31477",11,11,1,"12309A","ADAM15","chr1:155026942","c.602A>C(E6)","p.201,K>T","rs6427128",0.9,1,1,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM15",0.96,46,"错义",12220,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_001261464.1"]
["12309A(99)v31478",15,15,1,"12309A","ADAM15","chr1:155033317","IVS19+9T>C","非编码区","rs11264304",0.7,0.94,0.94,0.94,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM15",0.96,46,"非编码区",16203,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_001261464.1"]
["12309A(99)v24491",81,38,0.47,"12309A","ADAM19","chr5:156916167","c.2268G>A(E20)","p.756,S>S",{"$nulls":6},1E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ADAM19",0.99,110,"同义",13403,"0.48=61/127","位于基因组单拷贝区域+DNA结构正常",8728,"5q33.3","NM_033274.3"]
["12309A(99)v5932",2,2,1,"12309A","ADAM21","chr14:70926524","m.2566C>T(E2)","非编码区","rs59261726",0.41,0.35,0.36,0.35,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v5933",60,59,0.98,"12309A","ADAM21","chr14:70924852","c.636A>C(E2)","p.212,L>L","rs3829455",0.44,0.36,0.36,0.35,0.33,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"同义",13203,"0.98=79/81","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v5934",39,39,1,"12309A","ADAM21","chr14:70924249","c.33A>G(E2)","p.11,R>R","rs3751521",0.65,0.89,0.9,0.88,0.86,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"同义",13203,"1.00=50/50","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v5935",80,34,0.42,"12309A","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",1,98,"同义",13303,"0.43=52/120","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v5936",35,35,1,"12309A","ADAM21","chr14:70924237","c.21C>A(E2)","p.7,L>L","rs3751520",0.37,0.35,0.36,0.34,0.28,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"同义",13203,"1.00=45/45","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v5937",74,74,1,"12309A","ADAM21","chr14:70924462","c.246A>G(E2)","p.82,L>L","rs3751523",{"$nulls":4},0.51,0.54,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,98,"同义",13303,"1.00=108/108","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v5938",32,31,0.97,"12309A","ADAM21","chr14:70925818","c.1602T>C(E2)","p.534,N>N","rs2022624",0.74,0.9,0.9,0.89,0.8,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"同义",13203,"0.92=34/37","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v5939",59,59,1,"12309A","ADAM21","chr14:70924501","c.285C>G(E2)","p.95,D>E","rs8010994",{"$nulls":4},0.8,0.61,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,9,0,"ADAM21",1,98,"错义",12320,"1.00=82/82","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v5940",54,53,0.98,"12309A","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",1,98,"同义",13303,"0.99=66/67","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813.3"]
["12309A(99)v23530",122,61,0.5,"12309A","ADAM22","chr7:87774727","IVS16-3T>C","剪切位点","rs3761806",0.12,0.23,0.24,0.23,0.24,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM22",1,270,"剪切位点",16202,"0.48=104/218","位于基因组单拷贝区域+DNA结构正常",53616,"7q21","NM_004194.3"]
["12309A(99)v23531",8,3,0.38,"12309A","ADAM22","chr7:87564497","c.242C>G(E2)","p.81,P>R","rs2279542",0.63,0.52,0.57,0.47,0.42,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM22",1,270,"错义",12220,"0.33=3/9","位于基因组单拷贝区域+DNA结构正常",53616,"7q21","NM_004194.3"]
["12309A(99)v668",93,54,0.58,"12309A","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%",{"$nulls":4},5,null,1,0,"ADAM23",0.91,240,"同义",13203,"0.53=76/143","位于基因组单拷贝区域+DNA结构正常",8745,"2q33","NM_003812.2"]
["12309A(99)v26277",41,41,1,"12309A","ADAM28","chr8:24193264","m.1760T>C(E14)","非编码区","rs4872222",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM28",1,270,"非编码区",14200,"1.00=54/54","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_021777.3"]
["12309A(99)v26278",189,189,1,"12309A","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%",{"$nulls":4},5,null,5,0,"ADAM28",1,270,"错义",12220,"1.00=333/334","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12309A(99)v26279",198,198,1,"12309A","ADAM28","chr8:24211278","IVS21-5C>T","剪切位点","rs7815643",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM28",1,270,"剪切位点",16202,"1.00=352/353","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12309A(99)v26280",122,63,0.52,"12309A","ADAM28","chr8:24201069","c.1962C>T(E18)","p.654,P>P",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ADAM28",1,270,"同义",13403,"0.47=90/191","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12309A(99)v26281",89,63,0.71,"12309A","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",{"$nulls":4},4,null,5,0,"ADAM28",1,270,"非编码区",2420,"0.66=73/111","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265.4"]
["12309A(99)v2184",78,43,0.55,"12309A","ADAM29","chr4:175898555","c.1879C>T(E4)","p.627,P>S","rs78280171",0.049,0.23,0.25,0.22,0.23,0.24,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ADAM29",1,150,"错义",12110,"0.49=56/115","位于基因组多拷贝区域+DNA结构正常",11086,"4q34","NM_001130703.1"]
["12309A(99)v16643",153,153,1,"12309A","ADAM32","chr8:39080632","c.1400C>G(E14)","p.467,T>S","rs7845771",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM32",1,300,"错义",12230,"1.00=278/279","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004.5"]
["12309A(99)v6392",9,8,0.89,"12309A","ADAM33","chr20:3651765","c.2128C>T(E19)","p.710,V>I","rs3918396",0.048,0.019,0.019,0.019,0.012,0.025,"纯合","未知","蛋白结构预测结果为容忍或无害","12695330;16784537;17878941;18778489;19236319;19284602;22871616;23380143;25068505",{"$nulls":3},3,null,2,0,"ADAM33",0.87,17,"错义",12120,"0.91=10/11","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220.2"]
["12309A(99)v6393",8,7,0.88,"12309A","ADAM33","chr20:3651742","c.2151C>G(E19)","p.717,G>G","rs528557",0.39,0.23,0.25,0.2,0.17,0.33,"杂合","无关","有rs号，MAF>=5%","16784537;19146844;19236319;19284602;19317339;21179102;22269827;22583515;23380143;24141861;24562625;24751681;24944803;25068505",{"$nulls":3},5,null,2,0,"ADAM33",0.87,17,"同义",13203,"0.80=8/10","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220.2"]
["12309A(99)v3138",5,5,1,"12309A","ADAM8","chr10:135085321","c.1095C>T(E11)","p.365,A>A","rs1131720",0.85,0.94,0.93,0.94,0.73,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12309A(99)v3139",17,16,0.94,"12309A","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%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"非编码区",14200,"0.95=18/19","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12309A(99)v3140",6,6,1,"12309A","ADAM8","chr10:135089035","c.103A>G(E2)","p.35,W>R","rs2275725",0.9,0.95,0.96,0.95,0.81,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"错义",12220,"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"]
["12309A(99)v3141",9,9,1,"12309A","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%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"错义",12220,"0.93=13/14","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001164490.1"]
["12309A(99)v3142",10,10,1,"12309A","ADAM8","chr10:135082346","c.1969A>G(E19)","p.657,F>L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,10,0,"ADAM8",0.93,13,"错义",12220,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12309A(99)v3143",10,10,1,"12309A","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%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"同义",13203,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12309A(99)v3144",26,26,1,"12309A","ADAM8","chr10:135076596","m.2625T>C(E23)","非编码区","rs2230576",0.74,0.93,0.91,0.94,0.9,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"非编码区",14200,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12309A(99)v3145",3,3,1,"12309A","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%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"同义",13203,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12309A(99)v3146",18,18,1,"12309A","ADAM8","chr10:135086380","IVS7-10C>T","剪切位点","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"剪切位点",16202,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12309A(99)v3147",3,3,1,"12309A","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,"纯合","无关","内含子突变",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"非编码区",2500,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109.4"]
["12309A(99)v21355",6,6,1,"12309A","ADAM9","chr8:38961550","m.2869G>T(E22)","非编码区","rs4733973",0.96,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良9型",null,612775,5,1,1,1,"ADAM9",1,270,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",8754,"8p11.22","NM_003816.2"]
["12309A(99)v12589",44,21,0.48,"12309A","ADAMDEC1","chr8:24241904","m.107T>C(E1)","非编码区","rs12334642",0.05,0.048,0.062,0.034,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMDEC1",1,320,"非编码区",14200,"0.44=25/57","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271.1"]
["12309A(99)v14360",61,40,0.66,"12309A","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%",{"$nulls":4},5,null,2,0,"ADAMTS1",0.88,140,"同义",13203,"0.62=57/92","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988.3"]
["12309A(99)v14361",2,2,1,"12309A","ADAMTS1","chr21:28216595","c.679C>G(E1)","p.227,A>P","rs428785",0.69,0.44,0.43,0.44,0.28,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS1",0.88,140,"错义",12220,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988.3"]
["12309A(99)v15458",16,16,1,"12309A","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",277600,5,1,2,1,"ADAMTS10",0.82,33,"错义",12230,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957.2"]
["12309A(99)v15459",3,3,1,"12309A","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",277600,5,1,2,1,"ADAMTS10",0.82,33,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957.2"]
["12309A(99)v18012",56,56,1,"12309A","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",{"$nulls":3},5,null,3,0,"ADAMTS12",1,140,"错义",12210,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955.2"]
["12309A(99)v18013",50,50,1,"12309A","ADAMTS12","chr5:33649807","IVS7-5C>A","剪切位点","rs4504387",0.54,0.73,0.72,0.73,null,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS12",1,140,"剪切位点",16202,"0.99=75/76","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955.2"]
["12309A(99)v18014",60,31,0.52,"12309A","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%",{"$nulls":4},5,null,3,0,"ADAMTS12",1,140,"同义",13203,"0.51=48/94","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955.2"]
["12309A(99)v7150",101,101,1,"12309A","ADAMTS13","chr9:136304497","c.1716A>G(E15)","p.572,T>T","rs3124768",0.52,0.82,0.82,0.82,0.83,0.82,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,3,1,"ADAMTS13",0.97,24,"同义",13203,"1.00=163/163","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12309A(99)v7151",9,1,0.11,"12309A","ADAMTS13","chr9:136315076","c.3034T>C(E23)","p.1012,C>R",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,2,3,3,1,"ADAMTS13",0.97,24,"错义",12410,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12309A(99)v7152",27,27,1,"12309A","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",274150,5,1,3,1,"ADAMTS13",0.97,24,"同义",13203,"1.00=46/46","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025.3"]
["12309A(99)v21308",93,48,0.52,"12309A","ADAMTS14","chr10:72518009","c.3146A>G(E21)","p.1049,E>G","rs4747096",0.22,0.35,0.35,0.34,0.34,0.35,"杂合","无关","有rs号，MAF>=5%","18790654;23491141",{"$nulls":3},5,null,7,0,"ADAMTS14",1,37,"错义",12220,"0.47=78/167","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12309A(99)v21309",19,19,1,"12309A","ADAMTS14","chr10:72500763","c.1769T>C(E12)","p.590,L>P","rs10823607",0.8,0.91,0.9,0.93,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",23728906,{"$nulls":3},5,null,7,0,"ADAMTS14",1,37,"错义",12220,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12309A(99)v21310",28,13,0.46,"12309A","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%",{"$nulls":4},5,null,7,0,"ADAMTS14",1,37,"错义",12220,"0.44=21/48","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12309A(99)v21311",8,4,0.5,"12309A","ADAMTS14","chr10:72520660","m.3723T>C(E22)","非编码区","rs10999519",0.22,0.35,0.35,0.34,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS14",1,37,"非编码区",14200,"0.60=6/10","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12309A(99)v21312",33,20,0.61,"12309A","ADAMTS14","chr10:72517830","c.3050G>A(E20)","p.1017,S>N","rs10999516",0.21,0.35,0.35,0.34,0.31,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS14",1,37,"错义",12220,"0.69=29/42","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12309A(99)v21313",30,17,0.57,"12309A","ADAMTS14","chr10:72503344","c.1965G>A(E13)","p.655,T>T","rs10999502",0.31,0.49,0.48,0.5,0.46,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS14",1,37,"同义",13203,"0.56=24/43","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12309A(99)v21314",14,14,1,"12309A","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,{"$nulls":3},5,null,7,0,"ADAMTS14",1,37,"同义",13203,"1.00=20/20","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_080722.3"]
["12309A(99)v10601",4,2,0.5,"12309A","ADAMTS15","chr11:130343368","c.2505G>A(E8)","p.835,P>P","rs61757474",0.013,0.041,0.043,0.039,0.016,0.038,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAMTS15",0.92,27,"同义",13103,"0.30=3/10","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12309A(99)v10602",24,14,0.58,"12309A","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%",{"$nulls":4},5,null,3,0,"ADAMTS15",0.92,27,"错义",12210,"0.45=15/33","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12309A(99)v10603",6,5,0.83,"12309A","ADAMTS15","chr11:130339312","c.1698T>C(E5)","p.566,N>N","rs731446",0.57,0.35,0.34,0.36,0.32,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS15",0.92,27,"同义",13203,"0.89=8/9","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055.2"]
["12309A(99)v24507",47,27,0.57,"12309A","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%",{"$nulls":4},5,null,4,0,"ADAMTS16",0.93,110,"错义",12220,"0.51=43/84","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12309A(99)v24508",43,20,0.47,"12309A","ADAMTS16","chr5:5146377","c.310T>C(E3)","p.104,S>P","rs1019747",0.49,0.52,0.56,0.49,0.48,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADAMTS16",0.93,110,"错义",12220,"0.51=39/76","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12309A(99)v24509",109,109,1,"12309A","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%",{"$nulls":4},5,null,4,0,"ADAMTS16",0.93,110,"同义",13203,"0.99=175/176","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12309A(99)v24510",150,81,0.54,"12309A","ADAMTS16","chr5:5239862","c.2347A>G(E16)","p.783,T>A","rs147650341",3.8E-3,0.014,0.014,0.015,0.011,0.013,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ADAMTS16",0.93,110,"错义",12120,"0.53=148/277","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056.2"]
["12309A(99)v17889",16,8,0.5,"12309A","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",0.88,76,"错义",12220,"0.52=12/23","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17890",279,279,1,"12309A","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",0.88,76,"同义",13203,"1.00=587/587","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17891",11,8,0.73,"12309A","ADAMTS17","chr15:100821426","IVS4+8G>A","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.28,0.3,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,13,1,"ADAMTS17",0.88,76,"非编码区",16203,"0.69=11/16","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17892",34,34,1,"12309A","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",0.88,76,"同义",13203,"1.00=58/58","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17893",8,6,0.75,"12309A","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",0.88,76,"同义",13303,"0.77=10/13","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17894",4,4,1,"12309A","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",0.88,76,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17895",90,36,0.4,"12309A","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",0.88,76,"同义",13203,"0.42=63/150","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17896",19,19,1,"12309A","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",0.88,76,"错义",12220,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17897",4,4,1,"12309A","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",0.88,76,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17898",5,1,0.2,"12309A","ADAMTS17","chr15:100537699","c.2687G>T(E19)","p.896,T>K",{"$nulls":5},0.00069,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"Weill-Marchesani样综合症","AR",613195,2,3,13,1,"ADAMTS17",0.88,76,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17899",3,3,1,"12309A","ADAMTS17","chr15:100821576","c.647G>A(E4)","p.216,S>L","rs7496668",0.48,0.49,0.5,0.49,0.4,0.54,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.88,76,"错义",12210,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17900",7,7,1,"12309A","ADAMTS17","chr15:100514494","m.3480T>C(E22)","非编码区","rs2581341",0.59,0.51,0.53,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,1,13,1,"ADAMTS17",0.88,76,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v17901",12,12,1,"12309A","ADAMTS17","chr15:100514561","m.3413G>C(E22)","非编码区","rs2581340",{"$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",0.88,76,"非编码区",14300,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057.2"]
["12309A(99)v27746",78,78,1,"12309A","ADAMTS18","chr16:77401545","c.571A>G(E4)","p.191,Y>H","rs11643211",0.37,0.56,0.57,0.55,0.58,0.57,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,170,"错义",12220,"1.00=121/121","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12309A(99)v27747",176,176,1,"12309A","ADAMTS18","chr16:77359919","c.1876A>T(E13)","p.626,L>I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,170,"错义",12220,"1.00=296/296","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12309A(99)v27748",157,68,0.43,"12309A","ADAMTS18","chr16:77359768","c.2027A>G(E13)","p.676,V>A","rs201322928",0.0002,0.0024,0,0.0049,null,3.5E-4,"杂合","可能相关","蛋白结构预测结果为有害",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,2,3,7,1,"ADAMTS18",1,170,"错义",12110,"0.44=109/246","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12309A(99)v27749",32,20,0.62,"12309A","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",615458,5,3,7,1,"ADAMTS18",1,170,"非编码区",14200,"0.65=24/37","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12309A(99)v27750",55,54,0.98,"12309A","ADAMTS18","chr16:77353973","c.2305G>T(E16)","p.769,L>I","rs9930984",0.63,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,170,"错义",12220,"0.98=89/91","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12309A(99)v27751",73,34,0.47,"12309A","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",615458,5,3,7,1,"ADAMTS18",1,170,"错义",12220,"0.44=51/117","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12309A(99)v27752",137,137,1,"12309A","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",615458,5,1,7,1,"ADAMTS18",1,170,"同义",13203,"1.00=236/236","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355.2"]
["12309A(99)v21104",43,43,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ADAMTS19",0.92,210,"非编码区",14200,"0.99=74/75","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638.3"]
["12309A(99)v21105",235,230,0.98,"12309A","ADAMTS19","chr5:128863471","c.1099A>G(E5)","p.367,S>G","rs6595908",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS19",0.92,210,"错义",12220,"0.99=463/469","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638.3"]
["12309A(99)v24719",10,10,1,"12309A","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",225410,5,1,5,1,"ADAMTS2",0.86,34,"同义",13203,"1.00=19/19","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12309A(99)v24720",8,8,1,"12309A","ADAMTS2","chr5:178581859","c.1194G>A(E7)","p.398,D>D","rs2278221",0.23,0.28,0.29,0.27,0.25,0.34,"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",225410,5,1,5,1,"ADAMTS2",0.86,34,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12309A(99)v24721",10,7,0.7,"12309A","ADAMTS2","chr5:178634672","c.733C>T(E4)","p.245,V>I","rs398829",0.43,0.63,0.68,0.59,0.53,0.66,"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",225410,5,3,5,1,"ADAMTS2",0.86,34,"错义",12220,"0.60=12/20","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12309A(99)v24722",76,76,1,"12309A","ADAMTS2","chr5:178540975","c.3529G>A(E22)","p.1177,P>S","rs1054480",0.26,0.27,0.26,0.28,0.27,0.32,"纯合","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",225410,5,1,5,1,"ADAMTS2",0.86,34,"错义",12220,"1.00=133/133","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12309A(99)v24723",10,7,0.7,"12309A","ADAMTS2","chr5:178634683","c.722C>T(E4)","p.241,R>H","rs11750821",0.072,0.082,0.086,0.078,0.09,0.13,"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",225410,5,3,5,1,"ADAMTS2",0.86,34,"错义",12220,"0.58=11/19","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244.4"]
["12309A(99)v5512",278,132,0.47,"12309A","ADAMTS20","chr12:43860526","c.1296A>G(E9)","p.432,P>P","rs11182088",0.43,0.79,0.82,0.77,0.74,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS20",1,260,"同义",13203,"0.48=261/539","位于基因组单拷贝区域+DNA结构正常",80070,"12q12","NM_025003.3"]
["12309A(99)v11296",125,66,0.53,"12309A","ADAMTS3","chr4:73414286","c.413C>T(E3)","p.138,R>K","rs788908",0.64,0.66,0.65,0.68,0.67,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS3",1,230,"错义",12220,"0.49=101/206","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243.2"]
["12309A(99)v11297",209,88,0.42,"12309A","ADAMTS3","chr4:73433123-73433123","IVS1-5:缺失A","非编码区","rs33925079",0.42,0.45,0.4,0.51,0.075,0.45,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"ADAMTS3",1,230,"非编码区",2500,"0.42=101/239","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243.2"]
["12309A(99)v21272",13,13,1,"12309A","ADAMTS4","chr1:161163037","c.1877T>C(E7)","p.626,Q>R","rs4233367",0.71,0.88,0.89,0.88,0.83,0.9,"纯合","无关","有rs号，MAF>=5%",19064571,{"$nulls":3},5,null,2,0,"ADAMTS4",0.93,35,"错义",12220,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099.4"]
["12309A(99)v21273",14,14,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ADAMTS4",0.93,35,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099.4"]
["12309A(99)v7845",34,19,0.56,"12309A","ADAMTS5","chr21:28296324","m.3570A>G(E8)","非编码区","rs151065",0.78,0.48,0.49,0.47,null,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS5",0.94,110,"非编码区",14200,"0.56=29/52","位于基因组单拷贝区域+DNA结构正常",11096,"21q21.3","NM_007038.3"]
["12309A(99)v7846",100,46,0.46,"12309A","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",{"$nulls":3},5,null,2,0,"ADAMTS5",0.94,110,"错义",12220,"0.48=75/156","位于基因组单拷贝区域+DNA结构正常",11096,"21q21.3","NM_007038.3"]
["12309A(99)v17964",157,70,0.45,"12309A","ADAMTS6","chr5:64466460","c.3228G>T(E24)","p.1076,P>P",{"$nulls":5},2.3E-3,5.8E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ADAMTS6",1,260,"同义",13403,"0.46=130/282","位于基因组单拷贝区域+DNA结构正常",11174,"5q12","NM_197941.2"]
["12309A(99)v17965",118,54,0.46,"12309A","ADAMTS6","chr5:64447777","IVS24-5C>T","剪切位点","rs17206779",0.38,0.4,0.4,0.39,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS6",1,260,"剪切位点",16202,"0.48=100/209","位于基因组单拷贝区域+DNA结构正常",11174,"5q12","NM_197941.2"]
["12309A(99)v3918",12,11,0.92,"12309A","ADAMTS7","chr15:79066581","c.1938G>A(E13)","p.646,D>D","rs74405922",0.1,0.36,0.36,0.37,0.35,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAMTS7",0.94,18,"同义",13203,"0.95=19/20","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3919",27,6,0.22,"12309A","ADAMTS7","chr15:79067099","c.1743G>C(E12)","p.581,R>R","rs142017909",{"$nulls":4},0.046,0.0071,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ADAMTS7",0.94,18,"同义",13303,"0.23=14/60","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3920",22,6,0.27,"12309A","ADAMTS7","chr15:79067055","c.1787C>T(E12)","p.596,R>H","rs2277549",0.25,0.18,0.18,0.17,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAMTS7",0.94,18,"错义",12220,"0.34=15/44","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3921",6,1,0.17,"12309A","ADAMTS7","chr15:79063609","c.2413C>T(E16)","p.805,E>K",{"$nulls":6},0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,10,0,"ADAMTS7",0.94,18,"错义",12420,"0.18=2/11","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3922",4,4,1,"12309A","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%",{"$nulls":4},5,null,10,0,"ADAMTS7",0.94,18,"同义",13203,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3923",16,16,1,"12309A","ADAMTS7","chr15:79089007","c.744T>C(E4)","p.248,V>V","rs3743057",0.79,0.88,0.87,0.88,0.85,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAMTS7",0.94,18,"同义",13203,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3924",4,4,1,"12309A","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%",{"$nulls":4},5,null,10,0,"ADAMTS7",0.94,18,"错义",12220,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3925",4,3,0.75,"12309A","ADAMTS7","chr15:79058445","c.3808G>A(E19)","p.1270,P>S","rs76784555",{"$nulls":4},0.2,0.26,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,10,0,"ADAMTS7",0.94,18,"错义",12310,"0.75=3/4","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3926",5,5,1,"12309A","ADAMTS7","chr15:79082108","c.1101C>T(E7)","p.367,Q>Q","rs2277548",0.1,0.36,0.36,0.35,0.34,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAMTS7",0.94,18,"同义",13203,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v3927",8,8,1,"12309A","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",{"$nulls":4},4,null,10,0,"ADAMTS7",0.94,18,"同义",13303,"1.00=8/8","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272.3"]
["12309A(99)v18568",45,45,1,"12309A","ADAMTS8","chr11:130281488","c.1574G>A(E6)","p.525,A>V","rs2131535",0.74,0.83,0.83,0.83,0.77,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS8",0.86,31,"错义",12220,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037.4"]
["12309A(99)v28344",1,1,1,"12309A","ADAMTS9","chr3:64501716","m.6927C>A(E40)","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,"ADAMTS9",1,190,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",56999,"3p14.1","NM_182920.1"]
["12309A(99)v28345",81,41,0.51,"12309A","ADAMTS9","chr3:64532476","c.5022G>C(E32)","p.1674,D>E","rs6787633",0.13,0.23,0.23,0.22,0.22,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS9",1,190,"错义",12220,"0.50=67/134","位于基因组单拷贝区域+DNA结构正常",56999,"3p14.1","NM_182920.1"]
["12309A(99)v19739",87,43,0.49,"12309A","ADAMTSL1","chr9:18887908","c.4329G>C(E24)","p.1443,L>L","rs75551645",0.049,0.14,0.16,0.12,0.12,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ADAMTSL1",1,100,"同义",13103,"0.46=69/150","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12309A(99)v19740",7,4,0.57,"12309A","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,5,0,"ADAMTSL1",1,100,"同义",13403,"0.62=5/8","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12309A(99)v19741",5,5,1,"12309A","ADAMTSL1","chr9:18776840","c.2613A>C(E19)","p.871,I>I","rs1549986",0.97,1,1,1,0.8,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTSL1",1,100,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12309A(99)v19742",20,6,0.3,"12309A","ADAMTSL1","chr9:18504916","c.153T>A(E2)","p.51,G>G","rs2277160",0.57,0.44,0.4,0.48,0.41,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTSL1",1,100,"同义",13203,"0.32=11/34","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272.5"]
["12309A(99)v19743",95,84,0.88,"12309A","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,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,5,0,"ADAMTSL1",1,100,"非编码区",2420,"0.88=106/120","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_052866.4"]
["12309A(99)v5555",68,33,0.49,"12309A","ADAMTSL2","chr9:136412236","c.840A>T(E9)","p.280,A>A","rs2073875",0.72,0.53,0.57,0.5,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,35,"同义",13203,"0.50=56/111","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12309A(99)v5556",59,29,0.49,"12309A","ADAMTSL2","chr9:136412255","c.859A>C(E9)","p.287,R>R","rs2073876",0.72,0.53,0.57,0.5,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,35,"同义",13203,"0.53=49/93","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12309A(99)v5557",72,36,0.5,"12309A","ADAMTSL2","chr9:136412170","c.774C>T(E9)","p.258,D>D","rs2073874",0.72,0.53,0.57,0.5,0.42,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,35,"同义",13203,"0.48=66/138","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12309A(99)v5558",35,18,0.51,"12309A","ADAMTSL2","chr9:136412296","c.900C>T(E9)","p.300,I>I","rs2073877",0.096,0.14,0.16,0.13,0.12,0.14,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,35,"同义",13203,"0.53=26/49","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12309A(99)v5559",4,4,1,"12309A","ADAMTSL2","chr9:136419629","c.1090G>A(E10)","p.364,V>I","rs35767802",{"$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",0.98,35,"错义",12320,"0.88=7/8","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320.1"]
["12309A(99)v23697",306,303,0.99,"12309A","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%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"错义",12220,"0.99=605/610","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12309A(99)v23698",55,24,0.44,"12309A","ADAMTSL3","chr15:84639350","c.2605C>T(E20)","p.869,L>F","rs2277849",0.26,0.33,0.35,0.31,0.33,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"错义",12220,"0.42=38/90","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12309A(99)v23699",34,33,0.97,"12309A","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%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"同义",13203,"0.96=45/47","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12309A(99)v23700",38,38,1,"12309A","ADAMTSL3","chr15:84582124","c.1981G>T(E16)","p.661,V>L","rs4842838",0.69,0.72,0.69,0.74,0.73,0.74,"纯合","无关","有rs号，MAF>=5%","19343178;20189936",{"$nulls":3},5,null,8,0,"ADAMTSL3",1,180,"错义",12220,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12309A(99)v23701",68,68,1,"12309A","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%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"错义",12220,"1.00=110/110","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12309A(99)v23702",72,72,1,"12309A","ADAMTSL3","chr15:84651290","c.2910T>C(E21)","p.970,H>H","rs7176737",0.87,0.95,0.93,0.98,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"同义",13203,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12309A(99)v23703",78,43,0.55,"12309A","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%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"同义",13203,"0.48=66/138","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12309A(99)v23704",29,15,0.52,"12309A","ADAMTSL3","chr15:84581889","c.1746G>A(E16)","p.582,P>P","rs12439867",0.39,0.34,0.31,0.37,0.34,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"同义",13203,"0.61=25/41","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517.2"]
["12309A(99)v9543",7,7,1,"12309A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",0.99,38,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12309A(99)v9543",7,7,1,"12309A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"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",0.99,38,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12309A(99)v9544",24,24,1,"12309A","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",0.99,38,"同义",13203,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_025008.3"]
["12309A(99)v9544",24,24,1,"12309A","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",0.99,38,"同义",13203,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_025008.3"]
["12309A(99)v9545",5,4,0.8,"12309A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",0.99,38,"同义",13203,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12309A(99)v9545",5,4,0.8,"12309A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",0.99,38,"同义",13203,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12309A(99)v9546",40,19,0.47,"12309A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",0.99,38,"错义",12220,"0.48=31/64","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12309A(99)v9546",40,19,0.47,"12309A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",0.99,38,"错义",12220,"0.48=31/64","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12309A(99)v9547",17,17,1,"12309A","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",0.99,38,"同义",13203,"0.93=28/30","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12309A(99)v9547",17,17,1,"12309A","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",0.99,38,"同义",13203,"0.93=28/30","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032.4"]
["12309A(99)v27023",4,1,0.25,"12309A","ADAMTSL5","chr19:1506129","c.1301A>G(E12)","p.434,V>A",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ADAMTSL5",0.88,10,"错义",12410,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",339366,"19p13.3","NM_213604.2"]
["12309A(99)v30568",8,8,1,"12309A","ADAP1","chr7:959692","IVS3-5G>A","剪切位点","rs6962883",0.12,0.25,0.25,0.26,0.22,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAP1",0.93,31,"剪切位点",16202,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869.2"]
["12309A(99)v30569",11,6,0.55,"12309A","ADAP1","chr7:940181","c.721C>T(E7)","p.241,G>S","rs10256887",0.87,0.88,0.89,0.88,0.79,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAP1",0.93,31,"错义",12230,"0.50=8/16","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869.2"]
["12309A(99)v2914",51,26,0.51,"12309A","ADAR","chr1:154561925","c.1797C>T(E9)","p.599,V>V","rs1127309",0.28,0.32,0.3,0.35,0.26,0.28,"杂合","无关","有rs号，MAF>=5%","18043764;19434718","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,4,2,"ADAR",1,110,"同义",13203,"0.57=42/74","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12309A(99)v2914",51,26,0.51,"12309A","ADAR","chr1:154561925","c.1797C>T(E9)","p.599,V>V","rs1127309",0.28,0.32,0.3,0.35,0.26,0.28,"杂合","无关","有rs号，MAF>=5%","18043764;19434718","遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,110,"同义",13203,"0.57=42/74","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12309A(99)v2915",51,51,1,"12309A","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=88/88","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12309A(99)v2915",51,51,1,"12309A","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=88/88","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12309A(99)v2916",12,12,1,"12309A","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=16/16","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12309A(99)v2916",12,12,1,"12309A","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=16/16","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111.4"]
["12309A(99)v2917",40,21,0.53,"12309A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"杂合","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",615010,5,3,4,2,"ADAR",1,110,"错义",12220,"0.50=24/48","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12309A(99)v2917",40,21,0.53,"12309A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"杂合","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,"0.50=24/48","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001025107.2"]
["12309A(99)v27560",5,1,0.2,"12309A","ADARB2","chr10:1228909","m.2770C>T(E10)","非编码区","rs375444205",0.0012,0.0024,0.0048,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ADARB2",0.84,40,"非编码区",14100,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702.3"]
["12309A(99)v27561",9,5,0.56,"12309A","ADARB2","chr10:1229009","m.2670G>A(E10)","非编码区","rs904960",0.65,0.7,0.72,0.69,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADARB2",0.84,40,"非编码区",14200,"0.56=5/9","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702.3"]
["12309A(99)v27562",1,1,1,"12309A","ADARB2","chr10:1228449","m.3230G>A(E10)","非编码区","rs3833727",0.31,0.29,0.28,0.31,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADARB2",0.84,40,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702.3"]
["12309A(99)v27563",5,5,1,"12309A","ADARB2","chr10:1228910","m.2769A>G(E10)","非编码区","rs904959",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADARB2",0.84,40,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702.3"]
["12309A(99)v19372",48,48,1,"12309A","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,{"$nulls":3},5,null,2,0,"ADAT1",1,140,"错义",12220,"1.00=62/62","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091.3"]
["12309A(99)v19373",72,71,0.99,"12309A","ADAT1","chr16:75646576","c.608G>T(E7)","p.203,T>N","rs3743599",0.27,0.74,0.73,0.75,0.72,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAT1",1,140,"错义",12220,"0.99=100/101","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091.3"]
["12309A(99)v12689",1,1,1,"12309A","ADAT2","chr6:143745915","m.4307A>G(E6)","非编码区","rs223615",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAT2",1,250,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",134637,"6q24.2","NM_182503.2"]
["12309A(99)v24989",20,1,0.05,"12309A","ADC","chr1:33585769","c.1369G>A(E12)","p.457,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ADC",1,81,"错义",12420,"0.13=4/30","位于基因组单拷贝区域+DNA结构正常",113451,"1p35.1","NM_052998.2"]
["12309A(99)v24990",58,20,0.34,"12309A","ADC","chr1:33562416","c.862G>T(E9)","p.288,A>S","rs16835244",0.039,0.12,0.13,0.12,0.097,0.095,"杂合","可能相关","蛋白结构预测结果为有害",20147969,{"$nulls":3},2,null,2,0,"ADC",1,81,"错义",12110,"0.34=30/87","位于基因组单拷贝区域+DNA结构正常",113451,"1p35.1","NM_052998.2"]
["12309A(99)v8305",11,1,0.09,"12309A","ADCK1","chr14:78397965","c.1107G>T(E9)","p.369,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ADCK1",1,75,"同义",13403,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",57143,"14q24.3","NM_001142545.1"]
["12309A(99)v8306",53,23,0.43,"12309A","ADCK1","chr14:78390880","c.735T>C(E7)","p.245,N>N","rs2302944",0.23,0.29,0.29,0.29,0.32,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCK1",1,75,"同义",13203,"0.53=49/92","位于基因组单拷贝区域+DNA结构正常",57143,"14q24.3","NM_001142545.1"]
["12309A(99)v31132",84,40,0.48,"12309A","ADCK3","chr1:227174210","c.1716T>C(E15)","p.572,S>S","rs3738725",0.31,0.24,0.25,0.24,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,4,1,"ADCK3",1,46,"同义",13203,"0.42=50/118","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12309A(99)v31133",14,1,0.07,"12309A","ADCK3","chr1:227153409","c.626C>T(E4)","p.209,T>M",{"$nulls":6},0,"杂合","可能相关","蛋白结构预测结果为有害",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,2,3,4,1,"ADCK3",1,46,"错义",12410,"0.15=4/26","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12309A(99)v31134",61,33,0.54,"12309A","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",612016,5,3,4,1,"ADCK3",1,46,"剪切位点",16202,"0.48=45/94","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12309A(99)v31135",40,19,0.47,"12309A","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",612016,5,3,4,1,"ADCK3",1,46,"同义",13203,"0.43=26/60","位于基因组单拷贝区域+DNA结构正常",56997,"1q42.13","NM_020247.4"]
["12309A(99)v8778",10,6,0.6,"12309A","ADCK4","chr19:41211056","c.398T>C(E6)","p.133,H>R","rs3865452",0.48,0.45,0.41,0.49,0.36,0.47,"杂合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,3,3,1,"ADCK4",1,52,"错义",12220,"0.56=9/16","位于基因组单拷贝区域+DNA结构正常",79934,"19q13.2","NM_001142555.2"]
["12309A(99)v8779",14,7,0.5,"12309A","ADCK4","chr19:41206208","IVS10+7A>G","非编码区","rs2246095",0.54,0.55,0.58,0.51,0.52,0.52,"杂合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,3,3,1,"ADCK4",1,52,"非编码区",16203,"0.47=7/15","位于基因组单拷贝区域+DNA结构正常",79934,"19q13.2","NM_001142555.2"]
["12309A(99)v8780",20,14,0.7,"12309A","ADCK4","chr19:41209477","c.645C>T(E8)","p.215,A>A","rs11538385",0.23,0.24,0.26,0.21,0.21,0.24,"杂合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,3,3,1,"ADCK4",1,52,"同义",13203,"0.68=19/28","位于基因组单拷贝区域+DNA结构正常",79934,"19q13.2","NM_001142555.2"]
["12309A(99)v3817",7,1,0.14,"12309A","ADCK5","chr8:145617797","c.1405G>T(E13)","p.469,V>L",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ADCK5",0.95,16,"错义",12420,"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"]
["12309A(99)v21853",148,80,0.54,"12309A","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",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"0.52=140/270","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12309A(99)v21854",116,115,0.99,"12309A","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",143870,5,1,7,1,"ADCY10",1,200,"错义",12220,"1.00=218/219","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12309A(99)v21855",83,39,0.47,"12309A","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",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"0.44=51/117","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12309A(99)v21856",91,40,0.44,"12309A","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",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"0.39=56/142","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12309A(99)v21857",34,17,0.5,"12309A","ADCY10","chr1:167778843","m.4748G>A(E30)","非编码区","rs3213588",0.47,0.16,0.15,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,7,1,"ADCY10",1,200,"非编码区",14200,"0.49=18/37","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12309A(99)v21858",82,37,0.45,"12309A","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",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"0.45=55/123","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12309A(99)v21859",128,128,1,"12309A","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",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"1.00=296/296","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_001167749.1"]
["12309A(99)v3324",118,52,0.44,"12309A","ADCY2","chr5:7826853","c.3145G>A(E25)","p.1049,V>I","rs79684971",0.023,0.06,0.048,0.073,0.058,0.054,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ADCY2",0.94,160,"错义",12120,"0.41=90/221","位于基因组单拷贝区域+DNA结构正常",108,"5p15.3","NM_020546.2"]
["12309A(99)v3325",10,3,0.3,"12309A","ADCY2","chr5:7789922","IVS20+9A>G","非编码区",{"$nulls":7},"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"ADCY2",0.94,160,"非编码区",16403,"0.31=4/13","位于基因组单拷贝区域+DNA结构正常",108,"5p15.3","NM_020546.2"]
["12309A(99)v3326",22,9,0.41,"12309A","ADCY2","chr5:7757705","IVS16+6T>C","剪切位点","rs4072341",0.49,0.33,0.35,0.3,null,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADCY2",0.94,160,"剪切位点",16201,"0.49=17/35","位于基因组单拷贝区域+DNA结构正常",108,"5p15.3","NM_020546.2"]
["12309A(99)v17130",66,66,1,"12309A","ADCY3","chr2:25141538","c.319A>G(E1)","p.107,S>P","rs11676272",0.57,0.42,0.42,0.42,0.39,0.43,"纯合","无关","有rs号，MAF>=5%",25044758,{"$nulls":3},5,null,3,0,"ADCY3",1,64,"错义",12220,"1.00=122/122","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12309A(99)v17131",3,3,1,"12309A","ADCY3","chr2:25042622","m.3813A>G(E21)","非编码区","rs7945",0.12,0.15,0.16,0.13,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADCY3",1,64,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12309A(99)v17132",3,3,1,"12309A","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%",{"$nulls":4},5,null,3,0,"ADCY3",1,64,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",109,"2p23.3","NM_004036.3"]
["12309A(99)v3302",79,79,1,"12309A","ADCY4","chr14:24793600","IVS14-3G>A","剪切位点","rs1884366",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY4",0.98,59,"剪切位点",16202,"1.00=146/146","位于基因组单拷贝区域+DNA结构正常",196883,"14q12","NM_001198568.1"]
["12309A(99)v3303",41,40,0.98,"12309A","ADCY4","chr14:24795495","IVS11+10G>A","非编码区","rs17256902",0.3,0.55,0.54,0.55,0.48,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY4",0.98,59,"非编码区",16203,"0.95=63/66","位于基因组单拷贝区域+DNA结构正常",196883,"14q12","NM_001198568.1"]
["12309A(99)v28372",10,10,1,"12309A","ADCY5","chr3:123018963","IVS15+4A>G","剪切位点","rs4482616",0.81,0.89,0.9,0.89,0.85,0.88,"纯合","无关","有rs号，MAF>=5%",null,"家族性运动障碍性面部肌纤维颤搐症","AD",606703,5,1,2,1,"ADCY5",0.82,40,"剪切位点",16202,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",111,"3q21.1","NM_001199642.1"]
["12309A(99)v28373",16,1,0.06,"12309A","ADCY5","chr3:123010141","c.2096G>T(E18)","p.699,A>D",{"$nulls":5},0.003,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"家族性运动障碍性面部肌纤维颤搐症","AD",606703,2,1,2,1,"ADCY5",0.82,40,"错义",12410,"0.12=3/25","位于基因组多拷贝区域+DNA结构正常",111,"3q21.1","NM_001199642.1"]
["12309A(99)v14841",31,11,0.35,"12309A","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%",{"$nulls":4},5,null,1,0,"ADCY6",1,51,"同义",13203,"0.36=17/47","位于基因组单拷贝区域+DNA结构正常",112,"12q12-q13","NM_015270.3"]
["12309A(99)v24019",26,26,1,"12309A","ADCY7","chr16:50326661","c.612A>G(E4)","p.204,A>A","rs8051594",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY7",1,44,"同义",13203,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",113,"16q12.1","NM_001114.3"]
["12309A(99)v24020",5,1,0.2,"12309A","ADCY7","chr16:50342680","c.2038C>T(E16)","p.680,L>F",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ADCY7",1,44,"错义",12410,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",113,"16q12.1","NM_001114.3"]
["12309A(99)v21663",94,94,1,"12309A","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%",{"$nulls":4},5,null,1,0,"ADCY8",0.91,120,"剪切位点",13202,"0.99=150/151","位于基因组单拷贝区域+DNA结构正常",114,"8q24","NM_001115.2"]
["12309A(99)v7961",48,24,0.5,"12309A","ADCY9","chr16:4033436","c.2316T>C(E7)","p.772,I>M","rs2230739",0.26,0.4,0.4,0.39,0.41,0.49,"杂合","无关","有rs号，MAF>=5%","20386734;20459687;24934404",{"$nulls":3},5,null,6,0,"ADCY9",1,82,"错义",12220,"0.47=42/89","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12309A(99)v7962",82,36,0.44,"12309A","ADCY9","chr16:4164364","c.1080C>T(E2)","p.360,R>R","rs2230738",0.32,0.62,0.59,0.66,0.63,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"0.46=54/117","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12309A(99)v7963",36,36,1,"12309A","ADCY9","chr16:4016676","c.3162A>G(E11)","p.1054,H>H","rs2230742",0.73,0.85,0.85,0.85,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"1.00=49/49","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12309A(99)v7964",2,2,1,"12309A","ADCY9","chr16:4165432","c.12T>C(E2)","p.4,P>P","rs2530898",1,1,1,1,0.83,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12309A(99)v7965",10,6,0.6,"12309A","ADCY9","chr16:4027605","c.2706C>T(E9)","p.902,A>A","rs2240735",0.47,0.54,0.54,0.53,0.47,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"0.71=15/21","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12309A(99)v7966",10,5,0.5,"12309A","ADCY9","chr16:4016943","c.2895A>G(E11)","p.965,S>S","rs2230741",0.17,0.23,0.22,0.24,0.17,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"0.43=6/14","位于基因组单拷贝区域+DNA结构正常",115,"16p13.3","NM_001116.3"]
["12309A(99)v18314",2,2,1,"12309A","ADCYAP1","chr18:907675","c.126G>A(E3)","p.42,A>A","rs8192597",0.7,0.87,0.85,0.88,0.64,0.85,"纯合","无关","有rs号，MAF>=5%",23981011,{"$nulls":3},5,null,2,0,"ADCYAP1",1,31,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",116,"18p11","NM_001099733.1"]
["12309A(99)v18315",28,12,0.43,"12309A","ADCYAP1","chr18:909711","m.725C>T(E5)","非编码区","rs2231190",0.008,0.036,0.033,0.039,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ADCYAP1",1,31,"非编码区",14100,"0.44=18/41","位于基因组单拷贝区域+DNA结构正常",116,"18p11","NM_001099733.1"]
["12309A(99)v1736",5,5,1,"12309A","ADCYAP1R1","chr7:31146455","m.1853A>G(E16)","非编码区","rs2302476",0.51,0.74,0.69,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCYAP1R1",0.94,91,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",117,"7p14","NM_001118.4"]
["12309A(99)v17536",49,49,1,"12309A","ADD1","chr4:2916762","c.1757C>G(E13)","p.586,S>C","rs4963",0.24,0.5,0.46,0.54,0.48,0.48,"纯合","无关","有rs号，MAF>=5%",19574959,"原发性高血压",null,145500,5,1,2,1,"ADD1",1,140,"错义",12220,"1.00=84/84","位于基因组单拷贝区域+DNA结构正常",118,"4p16.3","NM_001119.4"]
["12309A(99)v17537",121,120,0.99,"12309A","ADD1","chr4:2906707","c.1378G>T(E10)","p.460,G>W","rs4961",0.21,0.5,0.46,0.54,0.5,0.48,"纯合","无关","有rs号，MAF>=5%","18279468;18398333;18513389;18660489;18787518;19131662;19199261;19263529;19330901;19379518;19559392;19574959;19838659;19927152;19960031;20145305;20565774;21194526;21291465;21339657;22198647;22810272","原发性高血压",null,145500,5,1,2,1,"ADD1",1,140,"错义",12210,"0.99=192/193","位于基因组单拷贝区域+DNA结构正常",118,"4p16.3","NM_001119.4"]
["12309A(99)v20072",1,1,1,"12309A","ADD3","chr10:111893678","m.2703A>G(E14)","非编码区","rs13306103",0.038,0.14,0.13,0.15,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ADD3",1,290,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",120,"10q25.2","NM_001121.2"]
["12309A(99)v10289",6,6,1,"12309A","ADGB","chr6:147136528","m.5220T>C(E36)","非编码区","rs1052451",0.43,0.67,0.65,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"非编码区",14200,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12309A(99)v10290",119,118,0.99,"12309A","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%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"同义",13203,"0.99=179/180","位于基因组单拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12309A(99)v10291",85,85,1,"12309A","ADGB","chr6:147136212","c.4863A>T(E36)","p.1621,E>D","rs1052444",0.4,0.67,0.65,0.69,0.62,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"错义",12220,"1.00=149/149","位于基因组多拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12309A(99)v10292",18,18,1,"12309A","ADGB","chr6:147136444","m.5136A>C(E36)","非编码区","rs1052449",0.43,0.67,0.65,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"非编码区",14200,"1.00=19/19","位于基因组多拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12309A(99)v10293",69,69,1,"12309A","ADGB","chr6:147136244","c.4895A>G(E36)","p.1632,H>R","rs259370",0.73,0.77,0.74,0.81,0.75,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"错义",12220,"1.00=120/120","位于基因组多拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694.3"]
["12309A(99)v30993",182,90,0.49,"12309A","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,103780,5,2,2,1,"ADH1B",1,420,"错义",12220,"0.51=138/271","位于基因组多拷贝区域+DNA结构正常",125,"4q23","NM_000668.4"]
["12309A(99)v30994",336,163,0.49,"12309A","ADH1B","chr4:100235053","c.753A>G(E6)","p.251,I>I","rs1789882",0.83,0.95,0.96,0.94,0.88,0.91,"杂合","无关","有rs号，MAF>=5%",19193628,"酒精依赖症",null,103780,5,2,2,1,"ADH1B",1,420,"同义",13203,"0.47=295/631","位于基因组多拷贝区域+DNA结构正常",125,"4q23","NM_000668.4"]
["12309A(99)v9594",159,159,1,"12309A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","迟发型帕金森病（易感）",null,168600,5,1,2,2,"ADH1C",1,360,"加长",15200,"1.00=256/256","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12309A(99)v9594",159,159,1,"12309A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","酒精依赖症",null,103780,5,1,2,2,"ADH1C",1,360,"加长",15200,"1.00=256/256","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12309A(99)v9595",83,83,1,"12309A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"纯合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","迟发型帕金森病（易感）",null,168600,5,1,2,2,"ADH1C",1,360,"同义",13203,"1.00=119/119","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12309A(99)v9595",83,83,1,"12309A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"纯合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","酒精依赖症",null,103780,5,1,2,2,"ADH1C",1,360,"同义",13203,"1.00=119/119","位于基因组多拷贝区域+DNA结构正常",126,"4q23","NM_000669.3"]
["12309A(99)v2837",63,62,0.98,"12309A","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%",{"$nulls":4},5,null,6,0,"ADH4",1,240,"非编码区",14200,"0.99=100/101","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12309A(99)v2838",106,105,0.99,"12309A","ADH4","chr4:100045574","m.1238T>C(E9)","非编码区","rs1042364",0.88,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADH4",1,240,"非编码区",14200,"0.99=177/178","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12309A(99)v2839",211,211,1,"12309A","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",{"$nulls":3},5,null,6,0,"ADH4",1,240,"同义",13203,"1.00=347/347","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12309A(99)v2840",122,122,1,"12309A","ADH4","chr4:100045616","c.1120C>T(E9)","p.374,V>I","rs1126673",0.85,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,6,0,"ADH4",1,240,"错义",12220,"1.00=214/214","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12309A(99)v2841",151,151,1,"12309A","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",{"$nulls":3},5,null,6,0,"ADH4",1,240,"错义",12220,"0.98=246/250","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12309A(99)v2842",125,125,1,"12309A","ADH4","chr4:100062819","c.135A>G(E3)","p.45,S>S","rs2032349",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,6,0,"ADH4",1,240,"同义",13203,"0.99=203/206","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670.3"]
["12309A(99)v31262",172,171,0.99,"12309A","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%",{"$nulls":4},5,null,1,0,"ADH6",1,240,"错义",12230,"0.99=255/257","位于基因组单拷贝区域+DNA结构正常",130,"4q23","NM_000672.3"]
["12309A(99)v13249",113,55,0.49,"12309A","ADH7","chr4:100341861","c.690C>T(E6)","p.230,R>R","rs971074",0.12,0.13,0.11,0.16,0.14,0.1,"杂合","无关","有rs号，MAF>=5%","16685648;17185388;17273965;18331377;18996923;19193628;19298322;19500151;19687126;21437268;22674868;23430454;25133033",{"$nulls":3},5,null,3,0,"ADH7",1,270,"同义",13203,"0.47=83/178","位于基因组单拷贝区域+DNA结构正常",131,"4q23-q24","NM_000673.4"]
["12309A(99)v13250",8,4,0.5,"12309A","ADH7","chr4:100333977","m.1730T>A(E9)","非编码区","rs284786",0.44,0.59,0.57,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADH7",1,270,"非编码区",14200,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",131,"4q23-q24","NM_000673.4"]
["12309A(99)v13251",4,3,0.75,"12309A","ADH7","chr4:100333932","m.1775A>G(E9)","非编码区","rs3805331",0.071,0.065,0.062,0.068,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADH7",1,270,"非编码区",14200,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",131,"4q23-q24","NM_000673.4"]
["12309A(99)v18404",7,7,1,"12309A","ADHFE1","chr8:67380863","m.1714T>C(E14)","非编码区","rs1108",0.58,0.36,0.36,0.36,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADHFE1",1,260,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",137872,"8q13.1","NM_144650.2"]
["12309A(99)v18405",200,200,1,"12309A","ADHFE1","chr8:67380528","c.1345T>C(E14)","p.449,C>R","rs1060242",0.58,0.36,0.36,0.36,0.39,0.41,"纯合","无关","有rs号，MAF>=5%",17708757,{"$nulls":3},5,null,3,0,"ADHFE1",1,260,"错义",12220,"1.00=355/355","位于基因组单拷贝区域+DNA结构正常",137872,"8q13.1","NM_144650.2"]
["12309A(99)v18406",52,51,0.98,"12309A","ADHFE1","chr8:67380677","m.1528C>T(E14)","非编码区","rs13682",0.58,0.36,0.36,0.36,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADHFE1",1,260,"非编码区",14200,"0.99=73/74","位于基因组单拷贝区域+DNA结构正常",137872,"8q13.1","NM_144650.2"]
["12309A(99)v15955",42,42,1,"12309A","ADIPOQ","chr3:186570892","c.45T>G(E3)","p.15,G>G","rs2241766",0.15,0.28,0.31,0.25,0.27,0.31,"纯合","无关","有rs号，MAF>=5%","15616038;16990411;17357083;17712123;18451143;18523726;18548168;18603647;18716158;18776141;18827209;19035456;19037660;19238139;19573164;19631916;19661719;19696691;19755407;19912668;20201642;20230294;20414354;20664545;20848215;21054480;21219602;21397927;21516303;21619462;21623778;21630088;21637951;21638131;21726267;22070425;22386722;22391941;22583123;22714914;23041095;23065236;23144319;23144325;23200411;23260797;23370338;23552441;23653335;23658423;23740135;23803590;24068295;24293390;24344808;24528335;24713294;24720830;25024592;25074391;25135112;25223469","血清脂联素数量性状位点1",null,612556,5,1,2,1,"ADIPOQ",1,150,"同义",13203,"1.00=56/56","位于基因组单拷贝区域+DNA结构正常",9370,"3q27","NM_001177800.1"]
["12309A(99)v15956",6,6,1,"12309A","ADIPOQ","chr3:186572642","m.1019G>A(E4)","非编码区","rs1501298",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"血清脂联素数量性状位点1",null,612556,5,1,2,1,"ADIPOQ",1,150,"非编码区",14200,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",9370,"3q27","NM_001177800.1"]
["12309A(99)v11197",38,17,0.45,"12309A","ADIPOR1","chr1:202920300","IVS1-8A>C","剪切位点","rs2275737",0.64,0.84,0.83,0.85,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADIPOR1",1,140,"剪切位点",16202,"0.49=22/45","位于基因组单拷贝区域+DNA结构正常",51094,"1q32.1","NM_015999.4"]
["12309A(99)v7385",30,29,0.97,"12309A","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%",{"$nulls":4},5,null,3,0,"ADIPOR2",1,150,"非编码区",14200,"0.97=36/37","位于基因组单拷贝区域+DNA结构正常",79602,"12p13.31","NM_024551.2"]
["12309A(99)v7386",96,48,0.5,"12309A","ADIPOR2","chr12:1893170","c.963C>T(E7)","p.321,Y>Y","rs9805042",0.24,0.11,0.13,0.083,0.064,0.091,"杂合","无关","有rs号，MAF>=5%","17216283;20178558",{"$nulls":3},5,null,3,0,"ADIPOR2",1,150,"同义",13203,"0.49=76/154","位于基因组单拷贝区域+DNA结构正常",79602,"12p13.31","NM_024551.2"]
["12309A(99)v7387",31,14,0.45,"12309A","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%",{"$nulls":4},5,null,3,0,"ADIPOR2",1,150,"非编码区",14200,"0.43=16/37","位于基因组单拷贝区域+DNA结构正常",79602,"12p13.31","NM_024551.2"]
["12309A(99)v14685",1,1,1,"12309A","ADK","chr10:75936611","m.365C>T(E1)","非编码区","rs10824095",0.63,0.37,0.37,0.38,0.31,0.38,"纯合","无关","有rs号，MAF>=5%",null,"高蛋氨酸血症（腺苷激酶缺乏）","AR",614300,5,1,1,1,"ADK",1,290,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",132,"10q22|10q11-q24","NM_001123.3"]
["12309A(99)v3445",30,30,1,"12309A","ADNP","chr20:49507892","m.3704T>G(E5)","非编码区","rs761240",0.97,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神智力发育迟滞28型","AD",615873,5,1,1,1,"ADNP",1,150,"非编码区",14200,"1.00=35/35","位于基因组单拷贝区域+DNA结构正常",23394,"20q13.13","NM_015339.2"]
["12309A(99)v11859",25,25,1,"12309A","ADNP2","chr18:77896242","c.2946C>T(E4)","p.982,D>D","rs3826595",0.29,0.46,0.51,0.41,0.41,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADNP2",1,100,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",22850,"18q23","NM_014913.3"]
["12309A(99)v11860",30,30,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ADNP2",1,100,"同义",13203,"1.00=39/39","位于基因组单拷贝区域+DNA结构正常",22850,"18q23","NM_014913.3"]
["12309A(99)v30188",1,1,1,"12309A","ADORA1","chr1:203135452","m.1838C>T(E4)","非编码区","rs16851030",0.15,0.37,0.37,0.37,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADORA1",0.99,67,"非编码区",14200,"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"]
["12309A(99)v12824",19,1,0.05,"12309A","ADORA2A","chr22:24837303","c.1085C>T(E3)","p.362,A>V",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ADORA2A",1,39,"错义",12420,"0.12=3/25","位于基因组单拷贝区域+DNA结构正常",135,"22q11.23","NM_000675.4"]
["12309A(99)v2979",89,31,0.35,"12309A","ADORA2B","chr17:15878110-15878112","c.453(E2)至c.455(E2):缺失CAA","缺失非移码","rs71666343",0.061,0.082,0.1,0.058,0.016,0.071,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,1,0,"ADORA2B",0.92,65,"缺失非移码",2222,"0.39=38/98","位于基因组多拷贝区域+DNA结构正常",136,"17p12","NM_000676.2"]
["12309A(99)v26545",8,4,0.5,"12309A","ADORA3","chr1:112042383","m.1913G>A(E2)","非编码区","rs923",0.77,0.76,0.76,0.76,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADORA3",1,120,"非编码区",14200,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12309A(99)v26546",61,35,0.57,"12309A","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%",{"$nulls":4},5,null,4,0,"ADORA3",1,120,"同义",13203,"0.56=53/95","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12309A(99)v26547",1,1,1,"12309A","ADORA3","chr1:112046557","m.187C>T(E1)","非编码区","rs1544223",0.69,0.68,0.68,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADORA3",1,120,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12309A(99)v26548",1,1,1,"12309A","ADORA3","chr1:112046540","m.204A>G(E1)","非编码区","rs1544224",0.69,0.68,0.68,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADORA3",1,120,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",140,"1p13.2","NM_000677.3"]
["12309A(99)v27262",43,19,0.44,"12309A","ADPGK","chr15:73044575","m.1692G>A(E7)","非编码区","rs9460",0.44,0.24,0.23,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPGK",0.84,140,"非编码区",14200,"0.42=32/76","位于基因组单拷贝区域+DNA结构正常",83440,"15q24.1","NM_031284.4"]
["12309A(99)v27263",219,219,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ADPGK",0.84,140,"同义",13203,"1.00=430/430","位于基因组单拷贝区域+DNA结构正常",83440,"15q24.1","NM_031284.4"]
["12309A(99)v14349",27,26,0.96,"12309A","ADPRH","chr3:119305169","c.336G>A(E4)","p.112,P>P","rs20569",0.2,0.26,0.25,0.27,0.29,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADPRH",1,84,"同义",13203,"0.98=42/43","位于基因组单拷贝区域+DNA结构正常",141,"3q13.31-q13.33","NM_001125.2"]
["12309A(99)v7341",96,48,0.5,"12309A","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%",{"$nulls":4},5,null,2,0,"ADPRM",1,200,"错义",12220,"0.47=68/144","位于基因组单拷贝区域+DNA结构正常",56985,"17p13.1","NM_020233.4"]
["12309A(99)v7342",4,2,0.5,"12309A","ADPRM","chr17:10614673","m.1316G>A(E4)","非编码区","rs445928",0.49,0.4,0.41,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADPRM",1,200,"非编码区",14200,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",56985,"17p13.1","NM_020233.4"]
["12309A(99)v841",12,6,0.5,"12309A","ADRA1A","chr8:26623384","m.1988G>A(E3)","非编码区","rs3802241",0.64,0.89,0.92,0.86,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRA1A",0.93,76,"非编码区",14200,"0.50=6/12","位于基因组单拷贝区域+DNA结构正常",148,"8p21.2","NM_033304.2"]
["12309A(99)v842",75,34,0.45,"12309A","ADRA1A","chr8:26628028","c.1039A>G(E2)","p.347,C>R","rs1048101",0.65,0.89,0.92,0.86,0.85,0.91,"杂合","无关","有rs号，MAF>=5%","15900517;16642433;18444252;19102884;19565482;19730237;20173430;23849431",{"$nulls":3},5,null,3,0,"ADRA1A",0.93,76,"错义",12220,"0.50=64/128","位于基因组单拷贝区域+DNA结构正常",148,"8p21.2","NM_000680.2"]
["12309A(99)v843",42,6,0.14,"12309A","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",{"$nulls":4},4,null,3,0,"ADRA1A",0.93,76,"非编码区",2420,"0.16=7/45","位于基因组单拷贝区域+DNA结构正常",148,"8p21.2","NM_033304.2"]
["12309A(99)v28899",54,23,0.43,"12309A","ADRA1B","chr5:159344461","c.549G>A(E1)","p.183,G>G","rs3729604",0.2,0.33,0.3,0.35,0.32,0.37,"杂合","无关","有rs号，MAF>=5%",20008943,{"$nulls":3},5,null,1,0,"ADRA1B",0.82,35,"同义",13203,"0.44=41/94","位于基因组单拷贝区域+DNA结构正常",147,"5q33.3","NM_000679.3"]
["12309A(99)v25635",34,13,0.38,"12309A","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%",{"$nulls":4},5,null,2,0,"ADRA1D",0.82,8,"非编码区",16203,"0.45=27/60","位于基因组单拷贝区域+DNA结构正常",146,"20p13","NM_000678.3"]
["12309A(99)v25636",7,2,0.29,"12309A","ADRA1D","chr20:4202041","m.1903T>A(E2)","非编码区","rs2236554",0.34,0.33,0.36,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRA1D",0.82,8,"非编码区",14200,"0.29=4/14","位于基因组单拷贝区域+DNA结构正常",146,"20p13","NM_000678.3"]
["12309A(99)v14382",3,3,1,"12309A","ADRA2B","chr2:96781853","c.36T>C(E1)","p.12,T>T","rs9333567",0.096,0.19,0.2,0.18,0.12,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRA2B",1,13,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",151,"2q11.1","NM_000682.5"]
["12309A(99)v14383",30,30,1,"12309A","ADRA2B","chr2:96780716","c.1173T>G(E1)","p.391,G>G","rs2229169",0.71,0.54,0.53,0.54,0.52,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRA2B",1,13,"同义",13203,"1.00=50/50","位于基因组单拷贝区域+DNA结构正常",151,"2q11.1","NM_000682.5"]
["12309A(99)v14384",10,1,0.1,"12309A","ADRA2B","chr2:96780986-96780987","c.903(E1)至c.902(E1):插入TCCTCCTCT","插入非移码","rs34667759",0.47,0.38,0.4,0.34,0.024,0.59,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,3,0,"ADRA2B",1,13,"插入非移码",2222,"0.08=1/13","位于基因组单拷贝区域+简单重复结构",151,"2q11.1","NM_000682.5"]
["12309A(99)v13691",21,12,0.57,"12309A","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",600807,5,1,2,2,"ADRB2",1,110,"错义",12230,"0.59=17/29","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12309A(99)v13691",21,12,0.57,"12309A","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,607514,5,2,2,2,"ADRB2",1,110,"错义",12230,"0.59=17/29","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12309A(99)v13692",16,10,0.62,"12309A","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",600807,5,1,2,2,"ADRB2",1,110,"错义",12230,"0.56=10/18","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12309A(99)v13692",16,10,0.62,"12309A","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,607514,5,2,2,2,"ADRB2",1,110,"错义",12230,"0.56=10/18","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024.5"]
["12309A(99)v18173",12,1,0.08,"12309A","ADRBK1","chr11:67049905","IVS12-1G>T","剪切位点",{"$nulls":7},"杂合","较高","突变在经典剪切位点上",{"$nulls":4},1,null,2,0,"ADRBK1",0.95,38,"剪切位点",16404,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",156,"11q13.1","NM_001619.3"]
["12309A(99)v18174",8,8,1,"12309A","ADRBK1","chr11:67050292","IVS14+3G>A","剪切位点","rs2071007",0.65,0.73,0.69,0.78,0.61,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRBK1",0.95,38,"剪切位点",16202,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",156,"11q13.1","NM_001619.3"]
["12309A(99)v29449",37,20,0.54,"12309A","ADRM1","chr20:60881330","c.408G>A(E4)","p.136,A>A","rs2427273",0.82,0.97,0.98,0.97,0.96,0.98,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADRM1",0.96,35,"同义",13203,"0.59=34/58","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12309A(99)v29450",12,5,0.42,"12309A","ADRM1","chr20:60883201","c.981C>T(E8)","p.327,I>I","rs77432560",0.009,0.017,0.0048,0.029,0.014,0.012,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ADRM1",0.96,35,"同义",13103,"0.38=6/16","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12309A(99)v29451",8,3,0.38,"12309A","ADRM1","chr20:60881780","c.531T>C(E5)","p.177,L>L","rs2427275",0.96,0.98,1,0.97,0.81,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADRM1",0.96,35,"同义",13203,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12309A(99)v29452",3,1,0.33,"12309A","ADRM1","chr20:60882888","IVS7+4A>G","剪切位点","rs2427278",0.95,0.98,1,0.97,null,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ADRM1",0.96,35,"剪切位点",16201,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",11047,"20q13.33","NM_007002.2"]
["12309A(99)v11154",89,34,0.38,"12309A","ADTRP","chr6:11723636","c.658C>T(E6)","p.220,V>I","rs2076185",0.16,0.5,0.49,0.5,0.45,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADTRP",1,250,"错义",12220,"0.40=62/154","位于基因组单拷贝区域+DNA结构正常",84830,"6p24.1","NM_001143948.1"]
["12309A(99)v6803",16,9,0.56,"12309A","AEBP1","chr7:44147485","c.817C>A(E5)","p.273,P>T","rs2537188",0.36,0.27,0.27,0.27,0.21,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AEBP1",1,59,"错义",12220,"0.56=10/18","位于基因组单拷贝区域+DNA结构正常",165,"7p13","NM_001129.3"]
["12309A(99)v6804",27,27,1,"12309A","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%",{"$nulls":4},5,null,2,0,"AEBP1",1,59,"同义",13203,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",165,"7p13","NM_001129.3"]
["12309A(99)v80",15,15,1,"12309A","AEN","chr15:89172558","c.642G>C(E3)","p.214,T>T","rs3743475",0.75,0.77,0.79,0.76,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AEN",1,18,"同义",13203,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12309A(99)v81",2,2,1,"12309A","AEN","chr15:89173657","m.1261A>T(E4)","非编码区","rs3826038",null,0.78,0.79,0.76,null,0.74,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AEN",1,18,"非编码区",14300,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12309A(99)v82",12,12,1,"12309A","AEN","chr15:89169858","c.418A>G(E2)","p.140,N>D","rs8027765",0.76,0.77,0.79,0.76,0.72,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AEN",1,18,"错义",12220,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767.3"]
["12309A(99)v8318",7,1,0.14,"12309A","AES","chr19:3053853","c.558G>T(E7)","p.186,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,1,0,"AES",0.97,22,"错义",12420,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",166,"19p13.3","NM_001130.5"]
["12309A(99)v2394",68,34,0.5,"12309A","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%",{"$nulls":4},5,null,3,0,"AFAP1",1,150,"同义",13203,"0.50=49/98","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12309A(99)v2395",93,53,0.57,"12309A","AFAP1","chr4:7783163","c.1722G>A(E13)","p.574,S>S","rs28542374",0.63,0.82,0.86,0.79,0.81,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFAP1",1,150,"同义",13203,"0.60=93/154","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12309A(99)v2396",73,33,0.45,"12309A","AFAP1","chr4:7770723","c.2266G>T(E17)","p.756,R>R","rs2285761",0.37,0.65,0.67,0.63,0.67,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFAP1",1,150,"同义",13203,"0.45=57/126","位于基因组单拷贝区域+DNA结构正常",60312,"4p16","NM_001134647.1"]
["12309A(99)v30017",37,36,0.97,"12309A","AFAP1L2","chr10:116073696","c.726C>T(E7)","p.242,T>T","rs3813722",0.58,0.9,0.88,0.91,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AFAP1L2",1,90,"同义",13203,"0.98=61/62","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12309A(99)v30018",25,14,0.56,"12309A","AFAP1L2","chr10:116060387","c.1605T>C(E14)","p.535,R>R","rs2286396",null,0.72,0.72,0.71,0.68,0.73,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"AFAP1L2",1,90,"同义",13303,"0.63=22/35","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12309A(99)v30019",18,18,1,"12309A","AFAP1L2","chr10:116091555","IVS4+7T>C","非编码区","rs10787524",0.74,0.97,0.97,0.98,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AFAP1L2",1,90,"非编码区",16203,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12309A(99)v30020",17,14,0.82,"12309A","AFAP1L2","chr10:116060194-116060195","IVS14+10至IVS14+9:插入G","非编码区","rs3214266",0.94,1,1,1,0.17,0.99,"杂合","无关","内含子突变",{"$nulls":4},5,null,4,0,"AFAP1L2",1,90,"非编码区",2500,"0.83=15/18","位于基因组单拷贝区域+DNA结构正常",84632,"10q25.3","NM_001001936.1"]
["12309A(99)v27779",64,64,1,"12309A","AFF1","chr4:88056925","m.4004A>G(E21)","非编码区","rs342464",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AFF1",1,170,"非编码区",14200,"1.00=109/109","位于基因组单拷贝区域+DNA结构正常",4299,"4q21","NM_001166693.1"]
["12309A(99)v27780",1,1,1,"12309A","AFF1","chr4:88059414","m.6493A>G(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,2,0,"AFF1",1,170,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",4299,"4q21","NM_001166693.1"]
["12309A(99)v14245",1,1,1,"12309A","AFF2","chrX:148079877","m.11325T>C(E20)","非编码区","rs16994922",null,0.89,0.96,0.82,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"X连锁智力低下,脆性X-F相关","XR",309548,3,1,2,1,"AFF2",1,100,"非编码区",14300,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",2334,"Xq28","NM_001169122.1"]
["12309A(99)v14246",86,86,1,"12309A","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",309548,4,1,2,1,"AFF2",1,100,"非编码区",16303,"1.00=149/149","位于基因组单拷贝区域+DNA结构正常",2334,"Xq28","NM_001169122.1"]
["12309A(99)v4017",106,51,0.48,"12309A","AFF3","chr2:100199386","c.2742G>T(E16)","p.914,H>Q","rs117712488",0.0082,0.046,0.038,0.053,0.038,0.048,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"AFF3",0.99,110,"错义",12110,"0.47=82/173","位于基因组单拷贝区域+DNA结构正常",3899,"2q11.2-q12","NM_001025108.1"]
["12309A(99)v4018",208,205,0.99,"12309A","AFF3","chr2:100343557","c.1148C>T(E10)","p.383,S>N","rs4851223",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFF3",0.99,110,"错义",12230,"0.99=349/353","位于基因组单拷贝区域+DNA结构正常",3899,"2q11.2-q12","NM_001025108.1"]
["12309A(99)v4019",25,1,0.04,"12309A","AFF3","chr2:100209678","c.2520T>G(E14)","p.840,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"AFF3",0.99,110,"同义",13403,"0.11=4/35","位于基因组单拷贝区域+DNA结构正常",3899,"2q11.2-q12","NM_001025108.1"]
["12309A(99)v28215",126,59,0.47,"12309A","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",0.95,230,"同义",13203,"0.45=101/226","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12309A(99)v28215",126,59,0.47,"12309A","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",0.95,230,"同义",13203,"0.45=101/226","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12309A(99)v28216",168,77,0.46,"12309A","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",0.95,230,"剪切位点",16202,"0.44=132/302","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12309A(99)v28216",168,77,0.46,"12309A","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",0.95,230,"剪切位点",16202,"0.44=132/302","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12309A(99)v28217",85,40,0.47,"12309A","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",0.95,230,"非编码区",14200,"0.42=57/135","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12309A(99)v28217",85,40,0.47,"12309A","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",0.95,230,"非编码区",14200,"0.42=57/135","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12309A(99)v28218",137,75,0.55,"12309A","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",0.95,230,"同义",13203,"0.54=127/237","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12309A(99)v28218",137,75,0.55,"12309A","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",0.95,230,"同义",13203,"0.54=127/237","位于基因组单拷贝区域+DNA结构正常",10939,"18p11","NM_006796.2"]
["12309A(99)v28623",171,87,0.51,"12309A","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",1,220,"剪切位点",16202,"0.51=167/327","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28623",171,87,0.51,"12309A","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",1,220,"剪切位点",16202,"0.51=167/327","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28624",29,29,1,"12309A","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",1,220,"剪切位点",16202,"1.00=42/42","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28624",29,29,1,"12309A","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",1,220,"剪切位点",16202,"1.00=42/42","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28625",66,65,0.98,"12309A","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",1,220,"同义",13203,"0.99=106/107","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28625",66,65,0.98,"12309A","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",1,220,"同义",13203,"0.99=106/107","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28626",130,58,0.45,"12309A","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",1,220,"剪切位点",16202,"0.43=87/200","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28626",130,58,0.45,"12309A","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",1,220,"剪切位点",16202,"0.43=87/200","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28627",163,83,0.51,"12309A","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",1,220,"非编码区",16203,"0.53=143/270","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v28627",163,83,0.51,"12309A","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",1,220,"非编码区",16203,"0.53=143/270","位于基因组单拷贝区域+DNA结构正常",174,"4q13.3","NM_001134.1"]
["12309A(99)v9987",107,107,1,"12309A","AGA","chr4:178359960","c.446G>C(E4)","p.149,T>S","rs2228119",0.92,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,1,2,1,"AGA",1,230,"错义",12220,"1.00=186/186","位于基因组单拷贝区域+DNA结构正常",175,"4q34.3","NM_000027.3"]
["12309A(99)v9988",32,15,0.47,"12309A","AGA","chr4:178352679","m.1352T>G(E9)","非编码区","rs1061814",0.46,0.51,0.57,0.46,null,0.55,"杂合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,3,2,1,"AGA",1,230,"非编码区",14200,"0.45=19/42","位于基因组单拷贝区域+DNA结构正常",175,"4q34.3","NM_000027.3"]
["12309A(99)v15517",25,13,0.52,"12309A","AGAP1","chr2:237032837","m.3243G>A(E18)","非编码区","rs11899677",0.38,0.3,0.31,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP1",0.94,97,"非编码区",14200,"0.50=18/36","位于基因组多拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12309A(99)v15518",39,16,0.41,"12309A","AGAP1","chr2:237032703","c.2511T>C(E18)","p.837,P>P","rs8178994",0.4,0.3,0.31,0.3,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP1",0.94,97,"同义",13203,"0.35=24/68","位于基因组单拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12309A(99)v15519",26,12,0.46,"12309A","AGAP1","chr2:237032607","c.2415T>G(E18)","p.805,A>A","rs11895915",0.38,0.31,0.31,0.3,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP1",0.94,97,"同义",13203,"0.46=18/39","位于基因组单拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12309A(99)v15520",80,79,0.99,"12309A","AGAP1","chr2:236957822","c.2011G>A(E16)","p.671,V>I","rs2034648",0.69,0.73,0.72,0.73,0.73,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP1",0.94,97,"错义",12220,"0.99=129/130","位于基因组多拷贝区域+DNA结构正常",116987,"2q37","NM_001037131.2"]
["12309A(99)v20253",65,34,0.52,"12309A","AGAP11","chr10:88768423","c.414A>G(E12)","p.138,T>T","rs2641562",0.4,0.69,0.73,0.65,0.68,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,170,"同义",13203,"0.49=41/83","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12309A(99)v20254",103,102,0.99,"12309A","AGAP11","chr10:88768657","c.648C>T(E12)","p.216,D>D","rs1745901",0.78,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,170,"同义",13203,"0.99=161/163","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12309A(99)v20255",167,167,1,"12309A","AGAP11","chr10:88768253","c.244A>G(E12)","p.82,I>V","rs2641563",0.79,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,170,"错义",12220,"1.00=258/258","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12309A(99)v20256",35,35,1,"12309A","AGAP11","chr10:88752206","m.567G>A(E4)","非编码区","rs1745903",0.39,0.24,0.21,0.27,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,170,"非编码区",14200,"1.00=63/63","位于基因组多拷贝区域+DNA结构正常",119385,"10q23.2","NM_133447.1"]
["12309A(99)v11424",7,1,0.14,"12309A","AGAP3","chr7:150839510","c.2062G>A(E16)","p.688,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,1,0,"AGAP3",0.97,34,"错义",12410,"0.14=2/14","位于基因组多拷贝区域+DNA结构正常",116988,"7q36.1","NM_031946.4"]
["12309A(99)v25394",50,24,0.48,"12309A","AGAP4","chr10:46321904","c.1451C>T(E7)","p.484,R>H","rs202104169",{"$nulls":4},0.41,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AGAP4",1,110,"错义",12310,"0.38=28/73","位于基因组多拷贝区域+DNA结构正常",119016,"10q11.22","NM_133446.2"]
["12309A(99)v26385",161,139,0.86,"12309A","AGAP6","chr10:51748684","c.209G>A(E1)","p.70,R>Q","rs61848260",0.5,0.35,0.31,0.39,null,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP6",1,170,"错义",12220,"0.87=240/277","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12309A(99)v26386",8,5,0.62,"12309A","AGAP6","chr10:51748266-51748267","m.189(E1)至m.190(E1):缺失AG","非编码区",null,null,0.16,0.15,0.17,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"AGAP6",1,170,"非编码区",2440,"0.67=6/9","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665.2"]
["12309A(99)v16494",88,26,0.3,"12309A","AGAP7","chr10:51465650","c.806C>T(E7)","p.269,R>Q","rs199898426",0.38,0.48,0.45,0.51,0.3,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP7",1,180,"错义",12210,"0.30=34/112","位于基因组多拷贝区域+DNA结构正常",653268,"10q11.23","NM_001077685.1"]
["12309A(99)v16495",86,86,1,"12309A","AGAP7","chr10:51465552","c.904A>T(E7)","p.302,Y>N","rs61850064",{"$nulls":4},0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"AGAP7",1,180,"错义",12320,"1.00=142/142","位于基因组多拷贝区域+DNA结构正常",653268,"10q11.23","NM_001077685.1"]
["12309A(99)v6310",18,9,0.5,"12309A","AGAP8","chr10:51225724","c.1258G>C(E7)","p.420,L>V","rs200027998",0.37,0.59,0.63,0.54,0.29,0.94,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP8",1,110,"错义",12220,"0.43=10/23","位于基因组多拷贝区域+DNA结构正常",728404,"10q11.23","NM_001077686.1"]
["12309A(99)v6311",44,33,0.75,"12309A","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%",{"$nulls":4},5,null,3,0,"AGAP8",1,110,"同义",13203,"0.77=54/70","位于基因组多拷贝区域+DNA结构正常",728404,"10q11.23","NM_001077686.1"]
["12309A(99)v6312",47,34,0.72,"12309A","AGAP8","chr10:51225872","c.1110G>T(E7)","p.370,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"AGAP8",1,110,"同义",13403,"0.69=49/71","位于基因组多拷贝区域+DNA结构正常",728404,"10q11.23","NM_001077686.1"]
["12309A(99)v17796",139,139,1,"12309A","AGBL1","chr15:86940622","c.2262T>C(E17)","p.754,T>T","rs4362360",0.74,0.87,0.87,0.87,0.88,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"同义",13203,"1.00=225/225","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12309A(99)v17797",81,39,0.48,"12309A","AGBL1","chr15:86807761","c.1221A>G(E10)","p.407,E>E","rs10520618",0.51,0.37,0.4,0.33,0.35,0.36,"杂合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"同义",13203,"0.50=61/121","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12309A(99)v17798",137,77,0.56,"12309A","AGBL1","chr15:86814866","c.1866A>G(E14)","p.622,L>L","rs11858435",0.68,0.4,0.43,0.37,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"同义",13203,"0.62=151/243","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12309A(99)v17799",50,50,1,"12309A","AGBL1","chr15:87217613","c.3029A>G(E22)","p.1010,Q>R","rs8028043",0.89,0.92,0.94,0.89,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"错义",12220,"1.00=69/69","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12309A(99)v17800",217,216,1,"12309A","AGBL1","chr15:87531281","c.3147A>C(E23)","p.1049,T>T","rs1006030",0.82,0.9,0.91,0.89,0.88,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"同义",13203,"0.99=392/395","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336.2"]
["12309A(99)v3527",76,74,0.97,"12309A","AGBL2","chr11:47701528","c.2013C>A(E13)","p.671,M>I","rs12286721",0.58,0.62,0.61,0.63,0.64,0.62,"纯合","无关","有rs号，MAF>=5%",19060910,{"$nulls":3},5,null,1,0,"AGBL2",1,230,"错义",12220,"0.97=127/131","位于基因组多拷贝区域+DNA结构正常",79841,"11p11.2","NM_024783.3"]
["12309A(99)v14236",280,279,1,"12309A","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%",{"$nulls":4},5,null,2,0,"AGBL3",1,300,"错义",12220,"1.00=501/503","位于基因组单拷贝区域+DNA结构正常",340351,"7q33","NM_178563.3"]
["12309A(99)v14237",136,136,1,"12309A","AGBL3","chr7:134719551","c.1209C>G(E7)","p.403,L>L","rs9656447",0.91,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGBL3",1,300,"同义",13203,"1.00=217/217","位于基因组单拷贝区域+DNA结构正常",340351,"7q33","NM_178563.3"]
["12309A(99)v24202",89,40,0.45,"12309A","AGBL4","chr1:49511424","c.426A>G(E5)","p.142,H>H","rs3934240",0.23,0.38,0.42,0.34,0.38,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGBL4",1,210,"同义",13203,"0.48=70/145","位于基因组单拷贝区域+DNA结构正常",84871,"1p33","NM_032785.3"]
["12309A(99)v24203",1,1,1,"12309A","AGBL4","chr1:48998736","m.2779A>G(E14)","非编码区","rs572907370",0.0006,0.0048,0.0095,0,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AGBL4",1,210,"非编码区",14100,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",84871,"1p33","NM_032785.3"]
["12309A(99)v24204",1,1,1,"12309A","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,3,0,"AGBL4",1,210,"非编码区",14300,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",84871,"1p33","NM_032785.3"]
["12309A(99)v11705",96,45,0.47,"12309A","AGBL5","chr2:27293150","m.2897G>T(E15)","非编码区","rs1053609",0.55,0.71,0.78,0.65,null,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGBL5",1,110,"非编码区",14200,"0.44=66/150","位于基因组单拷贝区域+DNA结构正常",60509,"2p23.3","NM_021831.5"]
["12309A(99)v12332",83,44,0.53,"12309A","AGFG1","chr2:228416712","c.1488A>G(E12)","p.496,T>T","rs13426457",0.77,0.68,0.64,0.71,0.67,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGFG1",0.98,240,"同义",13203,"0.47=60/129","位于基因组单拷贝区域+DNA结构正常",3267,"2q36.3","NM_001135187.1"]
["12309A(99)v12333",97,43,0.44,"12309A","AGFG1","chr2:228398422","c.1044A>G(E8)","p.348,A>A","rs13015491",0.069,0.13,0.15,0.11,0.1,0.096,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGFG1",0.98,240,"同义",13203,"0.43=68/157","位于基因组单拷贝区域+DNA结构正常",3267,"2q36.3","NM_001135187.1"]
["12309A(99)v29205",1,1,1,"12309A","AGFG2","chr7:100163733","m.2701C>T(E12)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"AGFG2",1,96,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",3268,"7q22.1","NM_006076.4"]
["12309A(99)v8982",153,153,1,"12309A","AGGF1","chr5:76359024","c.2092C>A(E14)","p.698,P>T","rs34400049",0.21,0.24,0.25,0.23,0.26,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGGF1",1,270,"错义",12220,"1.00=245/246","位于基因组多拷贝区域+DNA结构正常",55109,"5q13.3","NM_018046.4"]
["12309A(99)v2510",100,46,0.46,"12309A","AGL","chr1:100346741","IVS15+8T>C","非编码区","rs3736296",0.56,0.69,0.64,0.73,null,0.66,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,3,5,1,"AGL",1,310,"非编码区",16203,"0.49=73/149","位于基因组单拷贝区域+DNA结构正常",178,"1p21","NM_000028.2"]
["12309A(99)v2511",4,1,0.25,"12309A","AGL","chr1:100387479","m.5349G>T(E34)","非编码区","rs1804808",0.33,0.57,0.52,0.62,null,null,"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",232400,5,3,5,1,"AGL",1,310,"非编码区",14200,"0.25=1/4","位于基因组单拷贝区域+DNA结构正常",178,"1p21","NM_000028.2"]
["12309A(99)v2512",137,76,0.55,"12309A","AGL","chr1:100340787","c.1160G>A(E9)","p.387,R>Q","rs17121464",0.08,0.18,0.19,0.17,0.19,0.18,"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",232400,5,3,5,1,"AGL",1,310,"错义",12220,"0.56=123/219","位于基因组单拷贝区域+DNA结构正常",178,"1p21","NM_000028.2"]
["12309A(99)v2513",147,67,0.46,"12309A","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",232400,5,3,5,1,"AGL",1,310,"同义",13203,"0.48=122/256","位于基因组单拷贝区域+DNA结构正常",178,"1p21","NM_000028.2"]
["12309A(99)v2514",245,114,0.47,"12309A","AGL","chr1:100316589","IVS1-2A>G","剪切位点","rs2307130",0.43,0.56,0.52,0.59,0.5,0.53,"杂合","无关","突变在经典剪切位点上",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,3,5,1,"AGL",1,310,"剪切位点",16204,"0.47=194/416","位于基因组单拷贝区域+DNA结构正常",178,"1p21","NM_000644.2"]
["12309A(99)v23677",52,52,1,"12309A","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,{"$nulls":3},5,null,2,0,"AGMAT",0.83,84,"错义",12220,"1.00=68/68","位于基因组单拷贝区域+DNA结构正常",79814,"1p36.21","NM_024758.4"]
["12309A(99)v23678",38,38,1,"12309A","AGMAT","chr1:15909895","IVS1-5A>G","剪切位点","rs6429758",0.61,0.6,0.59,0.61,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGMAT",0.83,84,"剪切位点",16202,"1.00=53/53","位于基因组单拷贝区域+DNA结构正常",79814,"1p36.21","NM_024758.4"]
["12309A(99)v19393",250,106,0.42,"12309A","AGMO","chr7:15433761","c.653G>C(E6)","p.218,P>R","rs150962030",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AGMO",1,340,"错义",12310,"0.44=211/477","位于基因组单拷贝区域+DNA结构正常",392636,"7p21.2","NM_001004320.1"]
["12309A(99)v761",1,1,1,"12309A","AGPS","chr2:178406481","m.5582C>T(E20)","非编码区","rs8941",0.7,0.6,0.58,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肢近端型点状软骨发育不良3型","AR",600121,5,1,2,1,"AGPS",0.87,340,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",8540,"2q31.2","NM_003659.3"]
["12309A(99)v762",1,1,1,"12309A","AGPS","chr2:178407176","m.6277C>A(E20)","非编码区","rs10803912",0.88,0.96,0.96,0.97,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肢近端型点状软骨发育不良3型","AR",600121,5,1,2,1,"AGPS",0.87,340,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",8540,"2q31.2","NM_003659.3"]
["12309A(99)v19938",88,88,1,"12309A","AGR2","chr7:16834551","IVS7+9C>A","非编码区","rs4719480",0.92,0.97,0.98,0.97,0.95,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGR2",1,310,"非编码区",16203,"1.00=135/135","位于基因组单拷贝区域+DNA结构正常",10551,"7p21.3","NM_006408.3"]
["12309A(99)v19939",100,50,0.5,"12309A","AGR2","chr7:16834597","c.441A>G(E7)","p.147,N>N","rs6842",0.34,0.32,0.34,0.31,0.32,0.29,"杂合","无关","有rs号，MAF>=5%",18973922,{"$nulls":3},5,null,3,0,"AGR2",1,310,"同义",13203,"0.50=78/157","位于基因组单拷贝区域+DNA结构正常",10551,"7p21.3","NM_006408.3"]
["12309A(99)v19940",59,28,0.47,"12309A","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%",{"$nulls":4},5,null,3,0,"AGR2",1,310,"非编码区",14200,"0.44=35/79","位于基因组单拷贝区域+DNA结构正常",10551,"7p21.3","NM_006408.3"]
["12309A(99)v12417",102,53,0.52,"12309A","AGR3","chr7:16899197","m.583C>T(E8)","非编码区","rs11798",0.62,0.77,0.77,0.77,0.71,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGR3",1,320,"非编码区",14200,"0.51=87/171","位于基因组单拷贝区域+DNA结构正常",155465,"7p21.1","NM_176813.3"]
["12309A(99)v12418",214,213,1,"12309A","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%",{"$nulls":4},5,null,2,0,"AGR3",1,320,"非编码区",16203,"0.99=363/365","位于基因组单拷贝区域+DNA结构正常",155465,"7p21.1","NM_176813.3"]
["12309A(99)v18324",18,18,1,"12309A","AGRN","chr1:987200","IVS33+5C>T","剪切位点","rs9803031",0.79,1,0.99,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.84,10,"剪切位点",16202,"1.00=30/30","位于基因组单拷贝区域+DNA结构正常",375790,"1p36.33","NM_198576.3"]
["12309A(99)v18325",2,2,1,"12309A","AGRN","chr1:984302","c.4161T>C(E24)","p.1387,T>T","rs9442391",0.55,0.81,0.82,0.8,0.6,0.84,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.84,10,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",375790,"1p36.33","NM_198576.3"]
["12309A(99)v18326",2,2,1,"12309A","AGRN","chr1:981931","c.3066A>G(E18)","p.1022,S>S","rs2465128",0.8,0.97,0.95,0.98,0.8,0.96,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.84,10,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",375790,"1p36.33","NM_198576.3"]
["12309A(99)v18327",11,11,1,"12309A","AGRN","chr1:982994","c.3558T>C(E21)","p.1186,F>F","rs10267",0.84,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,5,1,"AGRN",0.84,10,"同义",13203,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",375790,"1p36.33","NM_198576.3"]
["12309A(99)v18328",9,1,0.11,"12309A","AGRN","chr1:985646","c.4913C>T(E28)","p.1638,A>V",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,2,3,5,1,"AGRN",0.84,10,"错义",12410,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",375790,"1p36.33","NM_198576.3"]
["12309A(99)v30535",22,1,0.05,"12309A","AGRP","chr16:67516525","m.713C>T(E4)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"肥胖（易感）",null,601665,3,2,1,1,"AGRP",1,32,"非编码区",14400,"0.14=4/29","位于基因组单拷贝区域+DNA结构正常",181,"16q22","NM_001138.1"]
["12309A(99)v16757",18,8,0.44,"12309A","AGT","chr1:230846207","c.390C>T(E2)","p.130,G>G",{"$nulls":5},6.6E-4,3.5E-4,"杂合","未知","预测范围之外的同义突变",null,"肾小管发育不良","AR",267430,4,3,4,3,"AGT",1,39,"同义",13403,"0.45=13/29","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029.3"]
["12309A(99)v16757",18,8,0.44,"12309A","AGT","chr1:230846207","c.390C>T(E2)","p.130,G>G",{"$nulls":5},6.6E-4,3.5E-4,"杂合","未知","预测范围之外的同义突变",null,"子痫前期/子痫1型","AD",189800,4,1,4,3,"AGT",1,39,"同义",13403,"0.45=13/29","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029.3"]
["12309A(99)v16757",18,8,0.44,"12309A","AGT","chr1:230846207","c.390C>T(E2)","p.130,G>G",{"$nulls":5},6.6E-4,3.5E-4,"杂合","未知","预测范围之外的同义突变",null,"原发性高血压",null,145500,4,2,4,3,"AGT",1,39,"同义",13403,"0.45=13/29","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029.3"]
["12309A(99)v16758",17,1,0.06,"12309A","AGT","chr1:230846237","c.360C>T(E2)","p.120,M>I",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"肾小管发育不良","AR",267430,3,3,4,3,"AGT",1,39,"错义",12420,"0.15=4/27","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029.3"]
["12309A(99)v16758",17,1,0.06,"12309A","AGT","chr1:230846237","c.360C>T(E2)","p.120,M>I",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"子痫前期/子痫1型","AD",189800,3,1,4,3,"AGT",1,39,"错义",12420,"0.15=4/27","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029.3"]
["12309A(99)v16758",17,1,0.06,"12309A","AGT","chr1:230846237","c.360C>T(E2)","p.120,M>I",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"原发性高血压",null,145500,3,2,4,3,"AGT",1,39,"错义",12420,"0.15=4/27","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029.3"]
["12309A(99)v16759",17,17,1,"12309A","AGT","chr1:230841687","c.1116T>C(E3)","p.372,L>L","rs7080",null,1,1,1,0.95,1,"纯合","未知","预测范围之外的同义突变",null,"肾小管发育不良","AR",267430,4,1,4,3,"AGT",1,39,"同义",13303,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029.3"]
["12309A(99)v16760",19,19,1,"12309A","AGT","chr1:230845794","c.803A>G(E2)","p.268,M>T","rs699",0.71,0.83,0.87,0.79,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","18069999;18248681;18279468;18513389;18603647;18637188;18653189;18698212;18953568;19108684;19131662;19263529;19330901;19559392;19932491;20029521;20061926;20185782;20486282;20570668;20592051;21261619;21304999;21306748;21438754;21988197;22531885;22569109;22858200;23021345;23132613;23251296;23287839;23333443;23354977;23681449;23716723;24622918;24722536;24737640;25020710","子痫前期/子痫1型","AD",189800,5,1,4,3,"AGT",1,39,"错义",12220,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029.3"]
["12309A(99)v7720",27,26,0.96,"12309A","AHNAK2","chr14:105416087","c.5701C>T(E7)","p.1901,G>S","rs59117977",0.13,0.29,0.33,0.25,0.3,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,89,0,"AHNAK2",1,83,"错义",12220,"0.97=33/34","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420.2"]
["12309A(99)v7760",53,33,0.62,"12309A","AHNAK2","chr14:105416936","c.4852T>C(E7)","p.1618,K>E","rs540496124",0.0046,0.0024,0,0.0049,null,0.00094,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,89,0,"AHNAK2",1,83,"错义",12120,"0.59=44/75","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420.2"]
["12309A(99)v22318",100,100,1,"12309A","AHSA1","chr14:77926011","c.133C>T(E2)","p.45,L>L","rs1061629",0.47,0.93,0.91,0.94,0.94,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AHSA1",1,200,"同义",13203,"0.98=175/178","位于基因组单拷贝区域+DNA结构正常",10598,"14q24","NM_012111.2"]
["12309A(99)v3389",4,4,1,"12309A","AIFM3","chr22:21335606","m.2301C>T(E20)","非编码区","rs389183",0.9,0.96,0.97,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AIFM3",1,43,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",150209,"22q11.21","NM_001018060.2"]
["12309A(99)v10798",73,73,1,"12309A","AKAP12","chr6:151669875","c.349A>G(E4)","p.117,K>E","rs10872670",0.69,0.59,0.61,0.57,0.56,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AKAP12",0.97,97,"错义",12220,"1.00=95/95","位于基因组单拷贝区域+DNA结构正常",9590,"6q24-q25","NM_005100.3"]
["12309A(99)v30961",79,33,0.42,"12309A","AKAP13","chr15:86122779","c.1480T>C(E7)","p.494,W>R","rs2061822",0.6,0.57,0.61,0.53,0.54,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"AKAP13",0.99,150,"错义",12220,"0.38=46/121","位于基因组单拷贝区域+DNA结构正常",11214,"15q24-q25","NM_006738.5"]
["12309A(99)v28498",86,86,1,"12309A","AKNAD1","chr1:109395105","c.182C>T(E2)","p.61,S>N","rs1277207",0.87,0.95,0.96,0.94,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AKNAD1",1,170,"错义",12220,"1.00=134/134","位于基因组单拷贝区域+DNA结构正常",254268,"1p13.3","NM_152763.4"]
["12309A(99)v2156",87,35,0.4,"12309A","AKR1E2","chr10:4884642","c.783T>C(E8)","p.261,N>N","rs12573669",0.041,0.11,0.086,0.13,0.16,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"AKR1E2",0.96,170,"同义",13103,"0.36=53/149","位于基因组单拷贝区域+DNA结构正常",83592,"10p15.1","NM_001040177.2"]
["12309A(99)v9276",24,24,1,"12309A","ALDH6A1","chr14:74527203","m.1849G>A(E12)","非编码区","rs8017248",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"甲基丙二酸半醛脱氢酶缺陷症",null,614105,5,1,3,1,"ALDH6A1",1,180,"非编码区",14200,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",4329,"14q24.3","NM_005589.2"]
["12309A(99)v10367",186,186,1,"12309A","ALG10B","chr12:38712142","c.251C>G(E2)","p.84,A>G","rs6582584",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ALG10B",1,250,"错义",12230,"1.00=332/332","位于基因组多拷贝区域+DNA结构正常",144245,"12q12","NM_001013620.3"]
["12309A(99)v15629",111,110,0.99,"12309A","ALKBH3","chr11:43940644","c.726G>T(E9)","p.242,G>G","rs1048928",0.62,0.84,0.81,0.86,0.84,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ALKBH3",1,230,"同义",13203,"0.99=187/189","位于基因组单拷贝区域+DNA结构正常",221120,"11p11.2","NM_139178.3"]
["12309A(99)v3976",54,20,0.37,"12309A","ALPK2","chr18:56204410","c.3009C>T(E5)","p.1003,R>R","rs55910046",0.4,0.21,0.19,0.22,0.16,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,32,0,"ALPK2",1,120,"同义",13203,"0.42=30/71","位于基因组单拷贝区域+DNA结构正常",115701,"18q21.31","NM_052947.3"]
["12309A(99)v9096",85,63,0.74,"12309A","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,2,0,"ALPP",1,68,"剪切位点",16301,"0.73=103/141","位于基因组多拷贝区域+DNA结构正常",250,"2q37","NM_001632.3"]
["12309A(99)v12328",74,74,1,"12309A","AMICA1","chr11:118074337","c.578A>G(E6)","p.193,V>A","rs1793174",0.8,0.68,0.69,0.68,0.67,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AMICA1",1,180,"错义",12220,"1.00=119/119","位于基因组单拷贝区域+DNA结构正常",120425,"11q23.3","NM_001098526.1"]
["12309A(99)v19593",14,14,1,"12309A","AMPD2","chr1:110163879","c.244G>A(E2)","p.82,A>T","rs28362581",0.24,0.31,0.34,0.27,0.23,0.32,"纯合","无关","有rs号，MAF>=5%",null,"桥脑小脑发育不全9型","AR",615809,5,1,4,2,"AMPD2",0.98,47,"错义",12220,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",271,"1p13.3","NM_001257360.1"]
["12309A(99)v26663",5,5,1,"12309A","ANKK1","chr11:113270015","c.1324G>C(E8)","p.442,G>R","rs4938016",null,0.44,0.41,0.47,0.4,0.5,"纯合","未知","蛋白结构预测结果为容忍或无害","18698520;21095016",{"$nulls":3},3,null,5,0,"ANKK1",0.96,50,"错义",12320,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",255239,"11q23.2","NM_178510.1"]
["12309A(99)v11855",43,43,1,"12309A","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%",{"$nulls":4},5,null,5,0,"ANKMY2",1,250,"非编码区",14200,"1.00=63/63","位于基因组单拷贝区域+DNA结构正常",57037,"7p21","NM_020319.2"]
["12309A(99)v23401",48,48,1,"12309A","ANKRD27","chr19:33096786","c.2448G>A(E24)","p.816,Y>Y","rs7247420",0.23,0.35,0.35,0.35,0.36,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ANKRD27",1,150,"同义",13203,"1.00=88/88","位于基因组单拷贝区域+DNA结构正常",84079,"19q13.11","NM_032139.2"]
["12309A(99)v29540",77,77,1,"12309A","ANKRD31","chr5:74442920","c.2316A>G(E14)","p.772,T>T","rs6888707",0.59,0.48,0.45,0.51,0.44,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ANKRD31",1,210,"同义",13203,"1.00=109/109","位于基因组单拷贝区域+DNA结构正常",256006,"5q13.3","NM_001164443.1"]
["12309A(99)v362",84,83,0.99,"12309A","ANKRD6","chr6:90333599","c.1041A>G(E12)","p.347,A>A","rs17292811",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ANKRD6",1,120,"同义",13203,"0.99=145/146","位于基因组单拷贝区域+DNA结构正常",22881,"6q14.2-q16.1","NM_001242809.1"]
["12309A(99)v12027",2,2,1,"12309A","ANKS3","chr16:4748831","c.1200C>T(E10)","p.400,E>E","rs189258846",0.0012,0.012,0.0048,0.019,0.004,2.3E-3,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ANKS3",0.91,49,"同义",13103,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",124401,"16p13.3","NM_001242929.1"]
["12309A(99)v20807",2,2,1,"12309A","ANTXR2","chr4:80827799","m.3014A>C(E17)","非编码区","rs1139638",null,1,1,1,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"幼年透明蛋白纤维瘤病","AR",228600,3,1,7,1,"ANTXR2",1,400,"非编码区",14300,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",118429,"4q21.21","NM_058172.5"]
["12309A(99)v31443",86,40,0.47,"12309A","ANXA4","chr2:70037739","c.411C>G(E7)","p.137,S>R","rs2228202",0.1,0.099,0.13,0.068,0.069,0.094,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ANXA4",1,180,"错义",12210,"0.44=62/141","位于基因组单拷贝区域+DNA结构正常",307,"2p13","NM_001153.3"]
["12309A(99)v9630",81,33,0.41,"12309A","AP2B1","chr17:33998802","c.2061G>C(E16)","p.687,V>V","rs1049379",0.47,0.52,0.48,0.56,0.48,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AP2B1",1,220,"同义",13203,"0.44=54/124","位于基因组单拷贝区域+DNA结构正常",163,"17q11.2-q12","NM_001030006.1"]
["12309A(99)v27353",238,238,1,"12309A","APC","chr5:112164561","c.1635G>A(E14)","p.545,A>A","rs351771",0.67,0.8,0.78,0.81,0.8,0.82,"纯合","无关","有rs号，MAF>=5%","16569251;18849522;20333795;24078348","肝癌","AD",114550,5,1,7,5,"APC",0.98,180,"同义",13203,"1.00=513/514","位于基因组单拷贝区域+DNA结构正常",324,"5q21-q22","NM_000038.5"]
["12309A(99)v27358",47,47,1,"12309A","APC","chr5:112176559","c.5268T>G(E16)","p.1756,S>S","rs866006",0.67,0.8,0.78,0.81,0.78,0.82,"纯合","无关","有rs号，MAF>=5%","16569251;20333795","结肠癌","AD",114500,5,1,7,5,"APC",0.98,180,"同义",13203,"1.00=60/60","位于基因组单拷贝区域+DNA结构正常",324,"5q21-q22","NM_000038.5"]
["12309A(99)v24736",24,24,1,"12309A","APOBEC3B","chr22:39381999","c.357T>C(E3)","p.119,S>S","rs2076111",{"$nulls":4},0.66,0.66,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"APOBEC3B",0.61,23,"同义",13303,"1.00=42/42","位于基因组多拷贝区域+DNA结构正常",9582,"22q13.1-q13.2","NM_001270411.1"]
["12309A(99)v30315",20,14,0.7,"12309A","APOBEC3H","chr22:39497452","c.361A>G(E3)","p.121,K>E","rs139298",0.53,0.3,0.28,0.32,0.28,0.32,"杂合","无关","有rs号，MAF>=5%",18945781,{"$nulls":3},5,null,10,0,"APOBEC3H",1,85,"错义",12220,"0.70=19/27","位于基因组单拷贝区域+DNA结构正常",164668,"22q13.1","NM_001166002.1"]
["12309A(99)v4830",67,67,1,"12309A","AQP4","chr18:24445692","m.25C>T(E1)","非编码区","rs162008",0.21,0.38,0.38,0.37,null,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AQP4",1,190,"非编码区",14200,"0.99=108/109","位于基因组单拷贝区域+DNA结构正常",361,"18q11.2-q12.1","NM_001650.4"]
["12309A(99)v21005",142,2,0.01,"12309A","AQPEP","chr5:115323628-115323629","c.1097(E4)至c.1098(E4):插入A","插入移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,5,0,"AQPEP",0.96,220,"插入移码",2140,"0.01=2/166","位于基因组单拷贝区域+简单重复结构",206338,"5q23.1","NM_173800.4"]
["12309A(99)v21817",75,12,0.16,"12309A","ARHGAP23","chr17:36646726","c.3084C>T(E19)","p.1028,Y>Y","rs117469511",{"$nulls":4},0.27,0.36,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ARHGAP23",0.7,24,"同义",13303,"0.25=34/137","位于基因组多拷贝区域+DNA结构正常",57636,"17q12","NM_001199417.1"]
["12309A(99)v9241",58,58,1,"12309A","ARHGAP42","chr11:100847050","c.2118A>G(E20)","p.706,S>S","rs569270",0.56,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ARHGAP42",1,240,"同义",13203,"1.00=92/92","位于基因组多拷贝区域+DNA结构正常",143872,"11q22.1","NM_152432.2"]
["12309A(99)v6150",73,35,0.48,"12309A","ARHGEF11","chr1:156939067","IVS9+7G>A","非编码区","rs2275206",0.18,0.26,0.23,0.3,0.27,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ARHGEF11",1,93,"非编码区",16203,"0.52=68/131","位于基因组单拷贝区域+DNA结构正常",9826,"1q21","NM_014784.3"]
["12309A(99)v26374",180,79,0.44,"12309A","ARHGEF28","chr5:73091149","IVS8-7C>T","剪切位点","rs73118524",0.26,0.26,0.26,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ARHGEF28",0.89,180,"剪切位点",16202,"0.44=145/330","位于基因组单拷贝区域+DNA结构正常",64283,"5q13.2","NM_001080479.2"]
["12309A(99)v5234",70,32,0.46,"12309A","ARHGEF35","chr7:143884103","c.1374G>A(E2)","p.458,C>C","rs4726676",0.13,0.43,0.45,0.4,0.39,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ARHGEF35",1,200,"同义",13203,"0.47=50/106","位于基因组多拷贝区域+DNA结构正常",445328,"7q35","NM_001003702.2"]
["12309A(99)v4006",17,17,1,"12309A","ARL6","chr3:97517118","m.1139G>C(E9)","非编码区","rs4857294",0.96,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Bardet-biedl综合征3型","AR",600151,5,1,1,3,"ARL6",1,370,"非编码区",14200,"1.00=20/20","位于基因组单拷贝区域+DNA结构正常",84100,"3q11.2","NM_032146.3"]
["12309A(99)v758",54,27,0.5,"12309A","ARPC4","chr3:9841989","IVS3+9A>G","非编码区","rs6443266",0.66,0.71,0.71,0.71,null,0.72,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ARPC4",1,93,"非编码区",16203,"0.55=51/92","位于基因组单拷贝区域+DNA结构正常",10093,"3p25.3","NM_001024959.2"]
["12309A(99)v24761",83,39,0.47,"12309A","ASAH2","chr10:52002980","c.492T>G(E3)","p.164,S>S","rs3739979",0.3,0.46,0.47,0.45,0.43,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ASAH2",1,260,"同义",13203,"0.47=59/126","位于基因组单拷贝区域+DNA结构正常",56624,"10q11.21","NM_001143974.1"]
["12309A(99)v21993",265,124,0.47,"12309A","ASB15","chr7:123256427","c.170C>T(E4)","p.57,P>L","rs6962756",0.78,0.79,0.8,0.79,0.76,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ASB15",1,260,"错义",12220,"0.48=212/444","位于基因组单拷贝区域+DNA结构正常",142685,"7q31.31","NM_080928.3"]
["12309A(99)v3019",3,1,0.33,"12309A","ASIC4","chr2:220397170","c.1370G>A(E4)","p.457,R>H",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"ASIC4",1,19,"错义",12420,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",55515,"2q35","NM_182847.2"]
["12309A(99)v14216",69,27,0.39,"12309A","ASPM","chr1:197070442","c.7939G>T(E18)","p.2647,L>I","rs3762271",0.21,0.18,0.15,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性原发性小头畸形5型","AR",608716,5,3,15,1,"ASPM",1,180,"错义",12220,"0.38=38/101","位于基因组单拷贝区域+DNA结构正常",259266,"1q31","NM_018136.4"]
["12309A(99)v3986",24,24,1,"12309A","ASTL","chr2:96795608","c.829T>G(E8)","p.277,K>Q","rs1657502",0.38,0.66,0.69,0.64,0.6,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ASTL",1,48,"错义",12220,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",431705,"2q11.1","NM_001002036.3"]
["12309A(99)v6583",7,5,0.71,"12309A","ATAD3C","chr1:1386016","m.948A>G(E1)","非编码区","rs34301361",0.27,0.37,0.32,0.42,null,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ATAD3C",1,50,"非编码区",14200,"0.75=9/12","位于基因组多拷贝区域+DNA结构正常",219293,"1p36.33","NM_001039211.2"]
["12309A(99)v5661",12,12,1,"12309A","ATG9A","chr2:220085845","c.2325A>G(E14)","p.775,T>T","rs2276633",0.87,0.88,0.9,0.87,0.81,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ATG9A",1,72,"同义",13203,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",79065,"2q35","NM_001077198.1"]
["12309A(99)v31466",165,93,0.56,"12309A","ATIC","chr2:216190020","c.347C>G(E5)","p.116,T>S","rs2372536",0.28,0.23,0.23,0.22,0.24,0.28,"杂合","无关","有rs号，MAF>=5%","19016697;19193698;24967362","5-氨基咪唑-4-甲酰胺核苷酸转甲酰酶/IMP环水解酶双功能酶缺乏症","AR",608688,5,3,2,1,"ATIC",0.99,260,"错义",12210,"0.56=167/296","位于基因组单拷贝区域+DNA结构正常",471,"2q35","NM_004044.6"]
["12309A(99)v2047",278,1,0,"12309A","ATP11B","chr3:182575785-182575785","c.971(E11):缺失A","缺失移码",{"$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",{"$nulls":4},1,null,1,0,"ATP11B",0.99,280,"缺失移码",2140,"0.01=2/362","位于基因组单拷贝区域+简单重复结构",23200,"3q27","NM_014616.2"]
["12309A(99)v25813",45,24,0.53,"12309A","ATP2A3","chr17:3828702","c.3102T>C(E22)","p.1034,R>R","rs887387",0.29,0.3,0.3,0.3,0.3,0.28,"杂合","无关","有rs号，MAF>=5%",24419040,{"$nulls":3},5,null,8,0,"ATP2A3",0.87,25,"同义",13203,"0.57=43/75","位于基因组单拷贝区域+DNA结构正常",489,"17p13.3","NM_174955.2"]
["12309A(99)v2111",45,26,0.58,"12309A","ATP2C2","chr16:84494275","c.2349C>T(E24)","p.783,P>P","rs2241640",0.47,0.65,0.62,0.68,0.64,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ATP2C2",1,120,"同义",13203,"0.59=47/79","位于基因组单拷贝区域+DNA结构正常",9914,"16q24.1","NM_014861.2"]
["12309A(99)v992",87,43,0.49,"12309A","ATP7B","chr13:52524488","c.2495T>C(E10)","p.832,K>R","rs1061472",0.5,0.43,0.47,0.38,0.42,0.39,"杂合","无关","有rs号，MAF>=5%","22356903;24852429;11405812;8250934;9482578;9554743;10721669;11690702;14986826;15952988;15967699;18373411","肝豆状核变性","AR",277900,5,3,9,1,"ATP7B",1,130,"错义",12210,"0.50=77/153","位于基因组单拷贝区域+DNA结构正常",540,"13q14.3","NM_000053.3"]
["12309A(99)v3696",1,1,1,"12309A","ATPBD4","chr15:35812722","m.2132C>G(E4)","非编码区","rs56315947",0.15,0.12,0.14,0.11,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ATPBD4",0.98,290,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",89978,"15q14","NM_001141972.1"]
["12309A(99)v9174",47,47,1,"12309A","AURKB","chr17:8108331","c.770A>G(E8)","p.257,M>T","rs1059476",0.74,0.6,0.6,0.59,0.58,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AURKB",1,81,"错义",12220,"1.00=64/64","位于基因组多拷贝区域+DNA结构正常",9212,"17p13.1","NM_001256834.1"]
["12309A(99)v24286",11,3,0.27,"12309A","AVPR1B","chr1:206231203","m.1494G>A(E2)","非编码区","rs28415467",0.23,0.1,0.12,0.087,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AVPR1B",1,17,"非编码区",14200,"0.27=4/15","位于基因组单拷贝区域+DNA结构正常",553,"1q32","NM_000707.3"]
["12309A(99)v6263",5,3,0.6,"12309A","B3GNT3","chr19:17922795","c.983G>A(E3)","p.328,R>H","rs36686",0.74,0.49,0.5,0.48,0.4,0.49,"杂合","无关","有rs号，MAF>=5%",17827388,{"$nulls":3},5,null,1,0,"B3GNT3",1,29,"错义",12220,"0.62=5/8","位于基因组单拷贝区域+DNA结构正常",10331,"19p13.1","NM_014256.3"]
["12309A(99)v30782",5,1,0.2,"12309A","B4GALT7","chr5:177031249","c.120G>T(E2)","p.40,S>S",{"$nulls":6},0,"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)早衰型","AR",130070,4,3,3,1,"B4GALT7",0.95,28,"同义",13403,"0.25=4/16","位于基因组单拷贝区域+DNA结构正常",11285,"5q35.2-q35.3","NM_007255.2"]
["12309A(99)v5278",283,198,0.7,"12309A","BAGE2","chr21:11038868","m.1336C>T(E6)","非编码区","rs599327",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,25,0,"BAGE2",1,720,"非编码区",14300,"0.67=281/422","位于基因组多拷贝区域+DNA结构正常",85319,"21p","NM_182482.2"]
["12309A(99)v14835",17,9,0.53,"12309A","BANP","chr16:88061150","c.957C>T(E8)","p.319,I>I","rs74740586",0.37,0.58,0.61,0.56,0.55,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"BANP",0.93,58,"同义",13203,"0.53=17/32","位于基因组多拷贝区域+DNA结构正常",54971,"16q24","NM_001173539.1"]
["12309A(99)v22957",249,249,1,"12309A","BAZ1A","chr14:35242828","c.3102G>A(E20)","p.1034,D>D","rs2275145",0.52,0.45,0.52,0.38,0.49,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BAZ1A",1,250,"同义",13203,"0.99=403/406","位于基因组单拷贝区域+DNA结构正常",11177,"14q13.2","NM_013448.2"]
["12309A(99)v18749",39,17,0.44,"12309A","BCKDHA","chr19:41930396","c.1221A>G(E9)","p.407,L>L","rs4674",0.62,0.44,0.41,0.48,0.45,0.44,"杂合","无关","有rs号，MAF>=5%",null,"枫糖尿症IA型","AR",248600,5,3,3,1,"BCKDHA",1,46,"同义",13203,"0.45=29/65","位于基因组单拷贝区域+DNA结构正常",593,"19q13.1-q13.2","NM_000709.3"]
["12309A(99)v25573",34,15,0.44,"12309A","BCL6","chr3:187446211","c.1477C>T(E6)","p.493,A>T","rs2229362",0.19,0.058,0.062,0.053,0.069,0.087,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BCL6",1,67,"错义",12220,"0.44=28/64","位于基因组单拷贝区域+DNA结构正常",604,"3q27","NM_001130845.1"]
["12309A(99)v17325",107,107,1,"12309A","BDP1","chr5:70806457","c.3538G>A(E17)","p.1180,G>S","rs715748",0.44,0.38,0.41,0.34,0.35,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"BDP1",1,220,"错义",12220,"0.99=157/158","位于基因组多拷贝区域+DNA结构正常",55814,"5q13","NM_018429.2"]
["12309A(99)v28934",51,27,0.53,"12309A","BEST1","chr11:61719387","c.109T>C(E2)","p.37,L>L","rs1800007",0.68,0.91,0.9,0.93,0.9,0.91,"杂合","无关","有rs号，MAF>=5%",null,"卵黄状黄斑营养不良","AD",153700,5,1,3,4,"BEST1",1,110,"同义",13203,"0.52=34/66","位于基因组单拷贝区域+DNA结构正常",7439,"11q13","NM_004183.3"]
["12309A(99)v16625",4,4,1,"12309A","BIRC7","chr20:61870727","c.667G>C(E6)","p.223,E>Q","rs1077019",0.25,0.36,0.36,0.37,0.27,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BIRC7",0.88,12,"错义",12220,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",79444,"20q13.3","NM_139317.1"]
["12309A(99)v9639",116,55,0.47,"12309A","BMP2","chr20:6759115","c.570A>T(E3)","p.190,R>S","rs235768",0.77,0.8,0.81,0.78,0.76,0.82,"杂合","无关","有rs号，MAF>=5%","11880640;18454203;21310029;25191703","短指症A2型","AD",112600,5,1,2,2,"BMP2",1,100,"错义",12210,"0.43=93/218","位于基因组单拷贝区域+DNA结构正常",650,"20p12","NM_001200.2"]
["12309A(99)v25517",66,64,0.97,"12309A","BMS1","chr10:43312807","c.2445C>T(E15)","p.815,P>P","rs11239786",0.21,0.42,0.44,0.4,0.34,0.45,"纯合","无关","有rs号，MAF>=5%",null,"先天性皮肤发育不全，非综合症型","AD,AR",107600,5,1,3,1,"BMS1",0.96,140,"同义",13203,"0.96=101/105","位于基因组多拷贝区域+DNA结构正常",9790,"10q11.21","NM_014753.3"]
["12309A(99)v22412",4,1,0.25,"12309A","BRAT1","chr7:2578371","c.1798G>A(E14)","p.600,L>F","rs56727079",0.11,0.29,0.32,0.26,0.23,0.28,"杂合","无关","有rs号，MAF>=5%",null,"新生儿致命性肌僵直和多重病灶型癫痫","AR",614498,5,3,5,1,"BRAT1",0.95,18,"错义",12210,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",221927,"7p22.3","NM_152743.3"]
["12309A(99)v18247",140,140,1,"12309A","BRCA2","chr13:32915005","c.6513G>C(E11)","p.2171,V>V","rs206076",null,1,1,1,0.96,1,"纯合","未知","预测范围之外的同义突变",null,"胰腺癌,易感2型",null,613347,4,1,7,8,"BRCA2",1,200,"同义",13303,"1.00=234/234","位于基因组单拷贝区域+DNA结构正常",675,"13q12.3","NM_000059.3"]
["12309A(99)v24728",203,93,0.46,"12309A","BRD8","chr5:137475787","c.3684C>T(E27)","p.1228,V>V","rs423258",0.3,0.39,0.36,0.42,0.36,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BRD8",1,190,"同义",13203,"0.48=164/342","位于基因组单拷贝区域+DNA结构正常",10902,"5q31","NM_139199.1"]
["12309A(99)v28148",2,1,0.5,"12309A","BRMS1","chr11:66105121","m.1038C>T(E10)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"BRMS1",1,37,"非编码区",14400,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",25855,"11q13-q13.2","NM_001024957.1"]
["12309A(99)v9412",2,2,1,"12309A","BVES","chr6:105546452","m.3812T>C(E8)","非编码区","rs221652",0.69,0.89,0.92,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BVES",1,240,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",11149,"6q21","NM_001199563.1"]
["12309A(99)v24298",72,39,0.54,"12309A","C10orf120","chr10:124459139","c.168T>C(E1)","p.56,S>S","rs11813597",0.45,0.52,0.55,0.48,0.49,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C10orf120",1,150,"同义",13203,"0.59=73/123","位于基因组单拷贝区域+DNA结构正常",399814,"10q26.13","NM_001010912.1"]
["12309A(99)v17459",9,5,0.56,"12309A","C11orf49","chr11:47182985","m.1171G>A(E8)","非编码区","rs3740693",0.037,0.072,0.071,0.073,null,0.11,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"C11orf49",1,98,"非编码区",14100,"0.54=7/13","位于基因组单拷贝区域+DNA结构正常",79096,"11p11.2","NM_001003676.1"]
["12309A(99)v28633",8,4,0.5,"12309A","C12orf29","chr12:88429324","m.57G>A(E1)","非编码区","rs117660425",0.035,0.21,0.24,0.18,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"C12orf29",1,260,"非编码区",14100,"0.56=5/9","位于基因组单拷贝区域+DNA结构正常",91298,"12q21.32","NM_001009894.2"]
["12309A(99)v23904",5,5,1,"12309A","C12orf73","chr12:104345056","m.618G>A(E3)","非编码区","rs1047490",0.68,0.99,1,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C12orf73",1,100,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",728568,"12q23.3","NM_001135570.1"]
["12309A(99)v18581",57,25,0.44,"12309A","C14orf37","chr14:58605790","c.287G>A(E2)","p.96,T>I","rs3829765",0.34,0.3,0.31,0.29,0.33,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C14orf37",1,140,"错义",12210,"0.38=37/98","位于基因组单拷贝区域+DNA结构正常",145407,"14q23.1","NM_001001872.2"]
["12309A(99)v14845",18,9,0.5,"12309A","C16orf46","chr16:81095099","c.855C>G(E3)","p.285,A>A","rs2287995",0.11,0.19,0.19,0.18,0.17,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C16orf46",1,93,"同义",13203,"0.46=11/24","位于基因组单拷贝区域+DNA结构正常",123775,"16q23.2","NM_001100873.1"]
["12309A(99)v6408",256,1,0,"12309A","C17orf104","chr17:42743893-42743893","c.614(E5):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"C17orf104",1,210,"缺失移码",2140,"0.01=2/319","位于基因组单拷贝区域+DNA结构正常",284071,"17q21.31","NM_001145080.2"]
["12309A(99)v28705",1,1,1,"12309A","C17orf75","chr17:30655675","m.4368C>A(E10)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"C17orf75",1,260,"非编码区",14400,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",64149,"17q11.2","NM_022344.3"]
["12309A(99)v23134",10,10,1,"12309A","C19orf24","chr19:1277275","c.375G>C(E2)","p.125,V>V","rs757292",0.85,0.99,1,0.98,0.94,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C19orf24",1,6,"同义",13203,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",55009,"19p13.3","NM_017914.3"]
["12309A(99)v693",8,8,1,"12309A","C19orf55","chr19:36258938-36258938","c.1191(E9):缺失G","缺失移码","rs5827939",1,1,1,1,0.096,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,3,0,"C19orf55",0.92,42,"缺失移码",2120,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",148137,"19q13.12","NM_001039887.2"]
["12309A(99)v8727",47,23,0.49,"12309A","C1orf168","chr1:57257817","c.669T>C(E2)","p.223,K>K","rs2298130",0.25,0.36,0.37,0.35,0.28,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C1orf168",1,190,"同义",13203,"0.48=33/69","位于基因组单拷贝区域+DNA结构正常",199920,"1p32.2","NM_001004303.4"]
["12309A(99)v14861",8,7,0.88,"12309A","C1orf222","chr1:1853615-1853616","m.2537(E10)至m.2536(E10):插入CTGA","非编码区","rs113294876",null,1,1,1,0.082,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"C1orf222",0.91,32,"非编码区",2430,"0.88=7/8","位于基因组单拷贝区域+DNA结构正常",339457,"1p36.33","XM_003403417.1"]
["12309A(99)v3339",96,47,0.49,"12309A","C20orf152","chr20:34596371","c.1123C>T(E9)","p.375,P>S","rs6060750",0.31,0.27,0.28,0.25,0.26,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C20orf152",1,160,"错义",12210,"0.51=77/152","位于基因组单拷贝区域+DNA结构正常",140894,"20q11.23","NM_001207076.1"]
["12309A(99)v19735",7,1,0.14,"12309A","C20orf96","chr20:259952","c.323C>T(E5)","p.108,R>K",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"C20orf96",1,81,"错义",12420,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",140680,"20p13","NM_080571.1"]
["12309A(99)v19836",11,6,0.55,"12309A","C22orf43","chr22:23974361","m.148C>T(E1)","非编码区","rs3788361",0.26,0.31,0.3,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C22orf43",1,240,"非编码区",14200,"0.55=6/11","位于基因组多拷贝区域+DNA结构正常",51233,"22q11.2","NM_016449.3"]
["12309A(99)v23104",51,51,1,"12309A","C2orf70","chr2:26798893","c.198A>T(E2)","p.66,Q>H","rs13002673",0.33,0.67,0.65,0.68,0.63,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C2orf70",1,71,"错义",12220,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",339778,"2p23.3","NM_001105519.1"]
["12309A(99)v11090",26,11,0.42,"12309A","C3orf45","chr3:50324672","m.561T>G(E4)","非编码区","rs12629572",0.3,0.71,0.73,0.68,null,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C3orf45",1,27,"非编码区",14200,"0.36=13/36","位于基因组单拷贝区域+DNA结构正常",132228,"3p21.31","NM_153215.1"]
["12309A(99)v21623",151,150,0.99,"12309A","C4orf33","chr4:130030652","c.319A>G(E5)","p.107,M>V","rs337277",0.7,0.8,0.78,0.82,0.78,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C4orf33",1,290,"错义",12220,"1.00=229/230","位于基因组单拷贝区域+DNA结构正常",132321,"4q28.2","NM_001099783.1"]
["12309A(99)v11341",137,71,0.52,"12309A","C4orf6","chr4:5527008","m.126C>T(E1)","非编码区","rs2267655",0.31,0.61,0.62,0.59,null,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C4orf6",1,240,"非编码区",14200,"0.53=119/224","位于基因组单拷贝区域+DNA结构正常",10141,"4p16.2","NM_005750.2"]
["12309A(99)v17864",202,202,1,"12309A","C6orf170","chr6:121620608","c.1124G>T(E10)","p.375,T>K","rs9387944",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C6orf170",1,330,"错义",12220,"1.00=386/387","位于基因组单拷贝区域+DNA结构正常",221322,"6q22.31","NM_152730.4"]
["12309A(99)v452",146,144,0.99,"12309A","C7orf33","chr7:148312520","m.922T>C(E3)","非编码区","rs6962292",0.61,0.54,0.54,0.54,null,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C7orf33",1,190,"非编码区",14200,"0.99=281/283","位于基因组单拷贝区域+DNA结构正常",202865,"7q36.1","NM_145304.2"]
["12309A(99)v5472",77,31,0.4,"12309A","C8orf22","chr8:49987910","m.536G>A(E5)","非编码区","rs6984804",0.6,0.82,0.8,0.84,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C8orf22",1,200,"非编码区",14200,"0.40=49/121","位于基因组单拷贝区域+DNA结构正常",492307,"8q11","NM_001007176.4"]
["12309A(99)v10046",29,29,1,"12309A","C9orf156","chr9:100666931","m.1487C>T(E5)","非编码区","rs6586",0.62,0.81,0.8,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C9orf156",1,160,"非编码区",14200,"1.00=33/33","位于基因组单拷贝区域+DNA结构正常",51531,"9q22.33","NM_016481.3"]
["12309A(99)v23724",29,16,0.55,"12309A","CA6","chr1:9009406","c.164C>T(E2)","p.55,T>M","rs2274327",0.27,0.25,0.28,0.22,0.21,0.25,"杂合","无关","有rs号，MAF>=5%","19721466;22198626;23652931",{"$nulls":3},5,null,6,0,"CA6",1,150,"错义",12220,"0.60=29/48","位于基因组单拷贝区域+DNA结构正常",765,"1p36.2","NM_001215.3"]
["12309A(99)v25192",22,22,1,"12309A","CACFD1","chr9:136328657","c.174T>C(E2)","p.58,I>I","rs3124765",null,0.94,0.96,0.93,0.91,0.93,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"CACFD1",0.82,24,"同义",13303,"1.00=38/38","位于基因组单拷贝区域+DNA结构正常",11094,"9q34","NM_001135775.2"]
["12309A(99)v1971",65,65,1,"12309A","CACNA1C","chr12:2791205","c.5534A>G(E43)","p.1845,K>R","rs10774054",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性长Q-T间期综合征8型/蒂莫西综合症","AD",601005,5,1,7,2,"CACNA1C",1,92,"错义",12220,"1.00=120/120","位于基因组单拷贝区域+DNA结构正常",775,"12p13.3","NM_001129830.1"]
["12309A(99)v18934",5,5,1,"12309A","CACNB2","chr10:18828663","m.2443G>T(E13)","非编码区","rs4747352",0.77,0.96,0.97,0.96,0.84,0.97,"纯合","无关","有rs号，MAF>=5%",null,"Brugada综合征4型",null,611876,5,1,1,1,"CACNB2",1,190,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",783,"10p12","NM_000724.3"]
["12309A(99)v30341",78,35,0.45,"12309A","CAGE1","chr6:7368917","IVS7+4A>G","剪切位点","rs1324502",0.57,0.55,0.53,0.56,null,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CAGE1",0.96,210,"剪切位点",16202,"0.44=53/120","位于基因组单拷贝区域+DNA结构正常",285782,"6p24.3","NM_001170692.1"]
["12309A(99)v5118",65,32,0.49,"12309A","CAMKK1","chr17:3775848","c.1124T>C(E12)","p.375,E>G","rs7214723",0.4,0.31,0.32,0.31,0.36,0.36,"杂合","无关","有rs号，MAF>=5%","16741161;23737288",{"$nulls":3},5,null,3,0,"CAMKK1",1,59,"错义",12210,"0.48=51/107","位于基因组单拷贝区域+DNA结构正常",84254,"17p13.2","NM_032294.2"]
["12309A(99)v2580",47,28,0.6,"12309A","CAPN11","chr6:44140818","IVS6+8C>G","非编码区","rs3813500",0.24,0.31,0.33,0.29,null,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CAPN11",1,90,"非编码区",16203,"0.59=34/58","位于基因组单拷贝区域+DNA结构正常",11131,"6p12","NM_007058.3"]
["12309A(99)v12592",76,2,0.03,"12309A","CARD11","chr7:2963941-2963943","c.1866(E15)至c.1864(E15):缺失GGA","缺失非移码",{"$nulls":5},0.005,1.2E-4,"杂合","可能相关","蛋白结构预测结果为有害",null,"免疫缺陷11型","AR",615206,2,3,3,2,"CARD11",0.95,64,"缺失非移码",2241,"0.03=2/80","位于基因组单拷贝区域+简单重复结构",84433,"7p22","NM_032415.4"]
["12309A(99)v16633",1,1,1,"12309A","CARD8","chr19:48713615","m.3009G>A(E11)","非编码区","rs8105324",0.39,0.23,0.2,0.26,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CARD8",0.84,130,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",22900,"19q13.33","NM_001184900.1"]
["12309A(99)v28405",13,13,1,"12309A","CASP8","chr2:202151439","m.1752G>C(E9)","非编码区","rs3185378",0.55,0.67,0.65,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",null,"乳腺癌，浸润性导管","AD",114480,5,1,4,4,"CASP8",1,200,"非编码区",14200,"1.00=14/14","位于基因组多拷贝区域+DNA结构正常",841,"2q33-q34","NM_001080124.1"]
["12309A(99)v2951",24,23,0.96,"12309A","CASR","chr3:122003832","c.3031G>C(E7)","p.1011,E>Q","rs1801726",0.92,0.99,0.99,0.99,0.96,0.98,"纯合","无关","有rs号，MAF>=5%","18787887;18843020;23125333;23533647","新生儿严重型甲状旁腺功能亢进症","AR",239200,5,1,3,4,"CASR",1,82,"错义",12230,"0.98=43/44","位于基因组单拷贝区域+DNA结构正常",846,"3q13","NM_000388.3"]
["12309A(99)v28436",82,47,0.57,"12309A","CATSPERG","chr19:38861333","c.3381G>A(E29)","p.1127,P>P","rs1052375",0.27,0.23,0.23,0.22,0.21,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CATSPERG",1,89,"同义",13203,"0.59=73/123","位于基因组单拷贝区域+DNA结构正常",57828,"19q13.1","NM_021185.4"]
["12309A(99)v6248",105,56,0.53,"12309A","CC2D2A","chr4:15516492","c.880G>C(E10)","p.294,V>L","rs201986486",0.0002,0.0024,0.0048,0,null,1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"COACH综合征","AR",216360,3,3,4,3,"CC2D2A",0.98,250,"错义",12120,"0.56=97/173","位于基因组单拷贝区域+DNA结构正常",57545,"4p15.32","NM_001080522.2"]
["12309A(99)v10169",165,71,0.43,"12309A","CCDC102B","chr18:66513615","c.893A>G(E6)","p.298,K>R","rs2187094",0.37,0.66,0.69,0.63,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CCDC102B",1,240,"错义",12220,"0.42=134/320","位于基因组单拷贝区域+DNA结构正常",79839,"18q22.1","NM_001093729.1"]
["12309A(99)v1868",58,57,0.98,"12309A","CCDC129","chr7:31682453","c.1499C>T(E12)","p.500,A>V","rs4141001",0.73,0.86,0.82,0.9,0.88,0.84,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"CCDC129",0.96,110,"错义",12220,"0.99=83/84","位于基因组单拷贝区域+DNA结构正常",223075,"7p14.3","NM_001257967.1"]
["12309A(99)v15261",114,48,0.42,"12309A","CCDC146","chr7:76871086","c.318G>A(E4)","p.106,L>L","rs74783981",0.069,0.091,0.095,0.087,0.1,0.099,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCDC146",1,260,"同义",13203,"0.40=75/187","位于基因组单拷贝区域+DNA结构正常",57639,"7q11.23","NM_020879.2"]
["12309A(99)v3037",120,120,1,"12309A","CCDC168","chr13:103388220","c.14827A>G(E4)","p.4943,S>P","rs9300758",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,25,0,"CCDC168",1,140,"错义",12220,"0.99=241/244","位于基因组单拷贝区域+DNA结构正常",643677,"13q33.1","NM_001146197.1"]
["12309A(99)v9426",85,40,0.47,"12309A","CCDC169-SOHLH2","chr13:36744800","c.1356G>A(E15)","p.452,Y>Y","rs2296967",0.075,0.082,0.067,0.097,0.081,0.086,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CCDC169-SOHLH2",1,300,"同义",13203,"0.47=65/139","位于基因组单拷贝区域+DNA结构正常",100526761,"13q","NM_001198910.1"]
["12309A(99)v25678",12,1,0.08,"12309A","CCDC37","chr3:126153081","c.1485C>T(E15)","p.495,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,"CCDC37",1,54,"同义",13403,"0.21=6/29","位于基因组单拷贝区域+DNA结构正常",348807,"3q21.3","NM_182628.2"]
["12309A(99)v8587",20,12,0.6,"12309A","CCDC57","chr17:80136418","c.1438C>T(E10)","p.480,V>M","rs7209474",0.57,0.88,0.88,0.87,0.84,0.89,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"CCDC57",0.99,54,"错义",12220,"0.62=18/29","位于基因组单拷贝区域+DNA结构正常",284001,"17q25.3","NM_198082.2"]
["12309A(99)v13987",157,69,0.44,"12309A","CCDC68","chr18:52609988-52609990","c.35(E3)至c.33(E3):缺失GGG","缺失非移码","rs574693747",0.0006,0.0048,0,0.0097,0.004,1.9E-3,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"CCDC68",1,250,"缺失非移码",2211,"0.41=74/182","位于基因组单拷贝区域+简单重复结构",80323,"18q21","NM_001143829.1"]
["12309A(99)v2843",217,217,1,"12309A","CCDC75","chr2:37317869","IVS4+4C>T","剪切位点","rs4670654",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CCDC75",1,280,"剪切位点",16202,"1.00=381/381","位于基因组单拷贝区域+DNA结构正常",253635,"2p22.2","NM_174931.2"]
["12309A(99)v14589",87,87,1,"12309A","CCKAR","chr4:26491768","IVS1+10C>T","非编码区","rs1800856",0.043,0.096,0.071,0.12,null,0.13,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"CCKAR",1,140,"非编码区",16103,"1.00=149/149","位于基因组单拷贝区域+DNA结构正常",886,"4p15.1-p15.2","NM_000730.2"]
["12309A(99)v20779",237,1,0,"12309A","CCL7","chr17:32598798-32598798","c.277(E3):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,"CCL7",1,230,"缺失移码",2140,"0.01=3/301","位于基因组单拷贝区域+DNA结构正常",6354,"17q11.2-q12","NM_006273.2"]
["12309A(99)v20581",47,47,1,"12309A","CCT2","chr12:69995273","m.2101T>C(E16)","非编码区","rs7200",0.2,0.31,0.31,0.3,null,0.29,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCT2",1,270,"非编码区",14200,"1.00=60/60","位于基因组多拷贝区域+DNA结构正常",10576,"12q15","NM_001198842.1"]
["12309A(99)v27203",126,65,0.52,"12309A","CD164","chr6:109689431","m.1359A>G(E5)","非编码区","rs974034",0.57,0.53,0.54,0.53,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CD164",1,230,"非编码区",14200,"0.56=125/225","位于基因组单拷贝区域+DNA结构正常",8763,"6q21","NM_001142401.1"]
["12309A(99)v3431",156,68,0.44,"12309A","CD200R1","chr3:112642568","c.1003C>G(E8)","p.335,E>Q","rs9865242",0.65,0.68,0.71,0.65,0.67,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CD200R1",1,240,"错义",12220,"0.40=113/283","位于基因组单拷贝区域+DNA结构正常",131450,"3q13.2","NM_138806.3"]
["12309A(99)v8887",57,32,0.56,"12309A","CD300A","chr17:72469966","c.332G>A(E2)","p.111,R>Q","rs2272111",0.35,0.2,0.21,0.19,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CD300A",1,92,"错义",12220,"0.49=47/96","位于基因组多拷贝区域+DNA结构正常",11314,"17q25.1","NM_007261.3"]
["12309A(99)v22154",50,50,1,"12309A","CD37","chr19:49839015","c.114T>C(E2)","p.38,I>I","rs354021",null,0.79,0.81,0.77,0.75,0.81,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"CD37",1,54,"同义",13303,"0.99=83/84","位于基因组单拷贝区域+DNA结构正常",951,"19q13.3","NM_001774.2"]
["12309A(99)v17525",11,11,1,"12309A","CD93","chr20:23064279","m.2415G>A(E2)","非编码区","rs6076019",0.58,0.81,0.8,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CD93",0.96,31,"非编码区",14200,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",22918,"20p11.21","NM_012072.3"]
["12309A(99)v12899",158,77,0.49,"12309A","CDC25C","chr5:137665323","c.208G>A(E3)","p.70,R>C","rs3734166",0.39,0.61,0.62,0.59,0.62,0.6,"杂合","无关","有rs号，MAF>=5%","18817904;19240791;25037741",{"$nulls":3},5,null,1,0,"CDC25C",1,230,"错义",12220,"0.50=135/271","位于基因组单拷贝区域+DNA结构正常",995,"5q31","NM_001790.3"]
["12309A(99)v28691",87,80,0.92,"12309A","CDCA7L","chr7:21941862-21941865","m.1617(E11)至m.1614(E11):缺失TCTT","非编码区","rs60370798",{"$nulls":4},0.59,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"CDCA7L",1,170,"非编码区",2430,"0.93=99/107","位于基因组多拷贝区域+DNA结构正常",55536,"7p15.3","NM_001127370.2"]
["12309A(99)v17719",202,108,0.53,"12309A","CDH11","chr16:65022114","c.945C>T(E7)","p.315,S>S","rs28216",0.22,0.23,0.22,0.23,0.28,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDH11",1,140,"同义",13203,"0.54=170/313","位于基因组单拷贝区域+DNA结构正常",1009,"16q21","NM_001797.2"]
["12309A(99)v15103",52,52,1,"12309A","CDH23","chr10:73562744","c.852G>A(E7)","p.284,A>A","rs10823849",0.33,0.5,0.49,0.51,0.46,0.52,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传耳聋12型","AR",601386,5,1,20,2,"CDH23",0.99,63,"同义",13203,"1.00=78/78","位于基因组单拷贝区域+DNA结构正常",64072,"10q22.1","NM_001171933.1"]
["12309A(99)v25911",52,26,0.5,"12309A","CDH3","chr16:68721533","c.1689G>C(E12)","p.563,Q>H","rs1126933",0.31,0.5,0.5,0.5,0.47,0.5,"杂合","无关","有rs号，MAF>=5%",null,"先天性稀毛症伴青少年黄斑营养不良","AR",601553,5,3,7,2,"CDH3",1,100,"错义",12210,"0.45=40/89","位于基因组单拷贝区域+DNA结构正常",1001,"16q22.1","NM_001793.4"]
["12309A(99)v24886",25,15,0.6,"12309A","CDHR1","chr10:85960395","c.477A>G(E6)","p.159,A>A","rs4933975",0.52,0.38,0.39,0.36,0.34,0.39,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良15型","AR",613660,5,3,4,1,"CDHR1",0.91,100,"同义",13203,"0.67=24/36","位于基因组单拷贝区域+DNA结构正常",92211,"10q23.1","NM_001171971.1"]
["12309A(99)v7993",6,6,1,"12309A","CDKAL1","chr6:21231474","m.2111C>G(E16)","非编码区","rs1563727",0.63,0.83,0.83,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,1,1,"CDKAL1",1,280,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",54901,"6p22.3","NM_017774.3"]
["12309A(99)v18428",199,78,0.39,"12309A","CDON","chr11:125871715","c.2057G>A(E11)","p.686,A>V","rs12274923",0.11,0.065,0.052,0.078,0.091,0.076,"杂合","无关","有rs号，MAF>=5%",null,"前脑无裂畸形11型",null,614226,5,2,9,1,"CDON",1,170,"错义",12220,"0.40=147/367","位于基因组单拷贝区域+DNA结构正常",50937,"11q23-q24","NM_001243597.1"]
["12309A(99)v23261",15,15,1,"12309A","CDV3","chr3:133306518","m.1597G>A(E5)","非编码区","rs6776497",0.86,0.95,0.96,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CDV3",0.76,210,"非编码区",14200,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",55573,"3q22.1","NM_001134422.1"]
["12309A(99)v26400",45,45,1,"12309A","CEACAM21","chr19:42085873","c.592A>G(E3)","p.198,M>V","rs2302188",0.6,0.61,0.65,0.57,0.54,0.61,"纯合","无关","有rs号，MAF>=5%","18927125;19956101;19956106;19956109",{"$nulls":3},5,null,4,0,"CEACAM21",1,120,"错义",12230,"1.00=71/71","位于基因组多拷贝区域+DNA结构正常",90273,"19q13.2","NM_001098506.1"]
["12309A(99)v18558",33,18,0.55,"12309A","CELA3B","chr1:22310262","c.438G>C(E5)","p.146,P>P","rs10733033",0.88,0.72,0.77,0.67,0.68,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"CELA3B",1,100,"同义",13203,"0.47=25/53","位于基因组多拷贝区域+DNA结构正常",23436,"1p36.12","NM_007352.2"]
["12309A(99)v26087",165,76,0.46,"12309A","CENPE","chr4:104117191","c.243A>G(E4)","p.81,T>T","rs2290943",0.12,0.13,0.11,0.15,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",null,"原发性常染色体隐性遗传性小头畸形13型","AR",616051,5,3,6,1,"CENPE",1,270,"同义",13203,"0.46=111/243","位于基因组单拷贝区域+DNA结构正常",1062,"4q24-q25","NM_001813.2"]
["12309A(99)v31455",18,7,0.39,"12309A","CEP112","chr17:64002046-64002047","UTR:插入ATACT","非编码区","rs3055984",0.54,0.84,0.86,0.83,0.021,null,"杂合","无关","不在基因上的突变",{"$nulls":4},5,null,9,0,"CEP112",1,280,"非编码区",2600,"0.39=7/18","位于基因组单拷贝区域+DNA结构正常",201134,"17q24.1","NM_001037325.2"]
["12309A(99)v18885",105,54,0.51,"12309A","CEP192","chr18:13001523","c.232G>A(E3)","p.78,G>R","rs11080618",0.27,0.2,0.19,0.21,0.2,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"CEP192",1,220,"错义",12220,"0.49=93/188","位于基因组单拷贝区域+DNA结构正常",55125,"18p11.21","NM_032142.3"]
["12309A(99)v18330",146,145,0.99,"12309A","CEP290","chr12:88505078","c.2268T>C(E22)","p.756,S>S","rs2468255",0.76,0.99,0.99,0.99,0.94,0.98,"纯合","无关","有rs号，MAF>=5%",null,"Meckel综合征4型",null,611134,5,1,2,5,"CEP290",1,310,"同义",13203,"1.00=238/239","位于基因组单拷贝区域+DNA结构正常",80184,"12q21.32","NM_025114.3"]
["12309A(99)v27652",30,30,1,"12309A","CERS4","chr19:8321946","c.726T>C(E9)","p.242,S>S","rs36247",0.44,0.46,0.47,0.46,0.34,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CERS4",1,67,"同义",13203,"1.00=50/50","位于基因组单拷贝区域+DNA结构正常",79603,"19p13.2","NM_024552.2"]
["12309A(99)v28410",195,85,0.44,"12309A","CFH","chr1:196695742","c.2016A>G(E13)","p.672,Q>Q","rs3753396",0.2,0.53,0.5,0.55,0.49,0.5,"杂合","无关","有rs号，MAF>=5%","18048322;18162041;18421087;18483746;19162324;19861685;19958499;20157618","年龄相关性黄斑变性4型",null,610698,5,2,6,4,"CFH",1,330,"同义",13203,"0.43=122/281","位于基因组单拷贝区域+DNA结构正常",3075,"1q32","NM_000186.3"]
["12309A(99)v22881",168,42,0.25,"12309A","CFTR","chr7:117188736","c.1251C>A(E10)","p.417,N>K","rs4727853",{"$nulls":4},0.36,0.0093,"杂合","未知","蛋白结构预测结果为容忍或无害",18716917,"支气管扩张症伴或不伴汗氯化物升高1型","AD",211400,3,1,3,4,"CFTR",1,230,"错义",12320,"0.27=85/310","位于基因组多拷贝区域+DNA结构正常",1080,"7q31.2","NM_000492.3"]
["12309A(99)v31221",7,3,0.43,"12309A","CGN","chr1:151510026","m.3960A>G(E21)","非编码区","rs1418823",0.79,0.76,0.75,0.77,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CGN",0.99,73,"非编码区",14200,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",57530,"1q21","NM_020770.2"]
["12309A(99)v9977",22,22,1,"12309A","CHD1L","chr1:146767320","m.2780A>G(E22)","非编码区","rs6537",0.82,0.92,0.92,0.92,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CHD1L",0.95,220,"非编码区",14200,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",9557,"1q12","NM_001256336.1"]
["12309A(99)v10188",83,83,1,"12309A","CHGB","chr20:5903517","c.727A>G(E4)","p.243,T>A","rs236151",0.87,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",20007371,{"$nulls":3},5,null,9,0,"CHGB",0.98,110,"错义",12220,"0.98=136/139","位于基因组单拷贝区域+DNA结构正常",1114,"20pter-p12","NM_001819.2"]
["12309A(99)v16101",133,133,1,"12309A","CHORDC1","chr11:89935586","c.929G>T(E10)","p.310,A>D","rs1045861",0.61,0.74,0.73,0.75,0.72,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CHORDC1",1,300,"错义",12220,"1.00=234/234","位于基因组多拷贝区域+DNA结构正常",26973,"11q14.3","NM_001144073.1"]
["12309A(99)v9101",78,46,0.59,"12309A","CHRNA2","chr8:27328511","c.65G>A(E2)","p.22,T>I","rs2472553",0.22,0.5,0.5,0.5,0.43,0.45,"杂合","无关","有rs号，MAF>=5%","19307444;24253422;24467848","夜发性额叶癫痫4型","AD",610353,5,1,3,1,"CHRNA2",1,71,"错义",12220,"0.55=72/132","位于基因组单拷贝区域+DNA结构正常",1135,"8p21","NM_000742.3"]
["12309A(99)v20249",45,23,0.51,"12309A","CHSY1","chr15:101718927","c.1075G>A(E3)","p.359,P>S","rs3743193",0.12,0.22,0.2,0.23,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",null,"轴前方短指综合征","AR",605282,5,3,2,1,"CHSY1",0.9,100,"错义",12210,"0.49=31/63","位于基因组单拷贝区域+DNA结构正常",22856,"15q26.3","NM_014918.4"]
["12309A(99)v16818",28,28,1,"12309A","CIITA","chr16:10995933","c.520A>G(E7)","p.174,R>G","rs8046121",0.99,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"风湿性关节炎（易感）",null,180300,5,1,6,2,"CIITA",1,48,"错义",12230,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",4261,"16p13","NM_000246.3"]
["12309A(99)v16823",5,2,0.4,"12309A","CIITA","chr16:11001770","c.2421G>T(E11)","p.807,L>L","rs34654419",0.22,0.094,0.095,0.092,0.12,0.15,"杂合","无关","有rs号，MAF>=5%",null,"风湿性关节炎（易感）",null,180300,5,2,6,2,"CIITA",1,48,"同义",13203,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",4261,"16p13","NM_000246.3"]
["12309A(99)v26389",64,63,0.98,"12309A","CLCN1","chr7:143017807","c.352G>T(E3)","p.118,G>W","rs10282312",0.99,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性先天性肌强直症","AD",160800,5,1,4,2,"CLCN1",1,100,"错义",12230,"0.99=108/109","位于基因组单拷贝区域+DNA结构正常",1180,"7q35","NM_000083.2"]
["12309A(99)v1718",30,30,1,"12309A","CLCNKB","chr1:16373124","c.324A>G(E4)","p.108,S>S","rs5257",0.74,0.99,1,0.99,0.96,0.99,"纯合","无关","有rs号，MAF>=5%",null,"巴特综合征 III型(经典型)","AR",607364,5,1,16,2,"CLCNKB",1,65,"同义",13203,"1.00=47/47","位于基因组多拷贝区域+DNA结构正常",1188,"1p36","NM_000085.4"]
["12309A(99)v10960",2,2,1,"12309A","CLEC17A","chr19:14721259","m.1465T>C(E14)","非编码区","rs11085900",0.26,0.39,0.4,0.39,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CLEC17A",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",388512,"19p13.12","NM_001204118.1"]
["12309A(99)v29904",65,64,0.98,"12309A","CLEC3A","chr16:78064733","c.433C>A(E2)","p.145,Q>K","rs2072663",0.13,0.27,0.22,0.32,0.23,0.24,"纯合","无关","有rs号，MAF>=5%",19844255,{"$nulls":3},5,null,1,0,"CLEC3A",0.94,180,"错义",12220,"0.99=86/87","位于基因组单拷贝区域+DNA结构正常",10143,"16q23","NM_001244755.1"]
["12309A(99)v3",9,4,0.44,"12309A","CLMP","chr11:123065683","m.325C>T(E1)","非编码区","rs2302605",0.48,0.58,0.58,0.58,0.53,0.59,"杂合","无关","有rs号，MAF>=5%",null,"先天性短肠综合征 ",null,615237,5,2,1,1,"CLMP",1,150,"非编码区",14200,"0.46=6/13","位于基因组单拷贝区域+DNA结构正常",79827,"11q24.1","NM_024769.2"]
["12309A(99)v12780",93,91,0.98,"12309A","CLPTM1","chr19:45488567","IVS6+6T>C","剪切位点","rs204471",0.9,0.93,0.92,0.95,0.92,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CLPTM1",0.96,61,"剪切位点",16202,"0.98=157/160","位于基因组单拷贝区域+DNA结构正常",1209,"19q13.3","NM_001294.2"]
["12309A(99)v9292",60,19,0.32,"12309A","CMYA5","chr5:79029726","c.5138T>A(E2)","p.1713,I>N","rs16877141",0.18,0.35,0.29,0.42,0.41,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,29,0,"CMYA5",0.99,140,"错义",12220,"0.34=27/80","位于基因组单拷贝区域+DNA结构正常",202333,"5q14.1","NM_153610.3"]
["12309A(99)v25127",70,21,0.3,"12309A","CNDP2","chr18:72186175-72186176","IVS7-9至IVS7-8:插入C","非编码区","rs5826329",0.8,0.89,0.89,0.9,0.16,0.89,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"CNDP2",1,110,"非编码区",2500,"0.27=22/83","位于基因组单拷贝区域+简单重复结构",55748,"18q22.3","NM_001168499.1"]
["12309A(99)v6273",55,18,0.33,"12309A","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%",{"$nulls":4},5,null,12,0,"CNR2",1,61,"同义",13203,"0.34=32/94","位于基因组单拷贝区域+DNA结构正常",1269,"1p36.11","NM_001841.2"]
["12309A(99)v10343",150,70,0.47,"12309A","CNTLN","chr9:17273731","c.850A>G(E6)","p.284,T>A","rs3808795",0.33,0.31,0.34,0.28,0.28,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CNTLN",1,250,"错义",12220,"0.46=119/259","位于基因组单拷贝区域+DNA结构正常",54875,"9p22.2","NM_001114395.1"]
["12309A(99)v22807",101,50,0.5,"12309A","CNTNAP2","chr7:147183143","IVS11+10A>G","非编码区","rs2286127",0.27,0.39,0.37,0.42,null,0.36,"杂合","无关","有rs号，MAF>=5%",null,"孤独症,易感15型",null,612100,5,2,3,2,"CNTNAP2",1,180,"非编码区",16203,"0.47=82/174","位于基因组单拷贝区域+DNA结构正常",26047,"7q35","NM_014141.5"]
["12309A(99)v20322",149,25,0.17,"12309A","COG6","chr13:40298639-40298639","IVS16-6:缺失A","非编码区","rs66629036",{"$nulls":4},0.066,0.15,"杂合","无关","内含子突变",null,"先天性糖基化病2L型","AR",614576,5,3,3,2,"COG6",1,300,"非编码区",2500,"0.16=27/172","位于基因组单拷贝区域+DNA结构正常",57511,"13q14.11","NM_001145079.1"]
["12309A(99)v15460",19,18,0.95,"12309A","COL10A1","chr6:116441229-116441230","m.2146(E3)至m.2145(E3):插入GGG","非编码区","rs111661664",0.96,1,1,1,0.72,1,"纯合","未知","有rs号，MAF>=5%的UTR突变",null,"Schmid型干骺端软骨发育异常","AD",156500,4,1,1,1,"COL10A1",1,95,"非编码区",2420,"0.95=19/20","位于基因组单拷贝区域+DNA结构正常",1300,"6q21-q22","NM_000493.3"]
["12309A(99)v10339",8,8,1,"12309A","COL11A2","chr6:33141161","c.2379A>G(E34)","p.793,D>D","rs2229785",0.88,0.98,0.99,0.96,0.88,0.99,"纯合","无关","有rs号，MAF>=5%",null,"耳脊椎骨骺发育不良","AR",215150,5,1,5,6,"COL11A2",0.65,25,"同义",13203,"0.92=11/12","位于基因组单拷贝区域+DNA结构正常",1302,"6p21.3","NM_080679.2"]
["12309A(99)v576",24,13,0.54,"12309A","COL18A1","chr21:46927489","c.3771A>G(E37)","p.1257,T>T","rs12483761",0.12,0.046,0.057,0.034,0.019,0.017,"杂合","无关","有rs号，MAF>=5%",null,"Knobloch综合症1型/视网膜剥离和枕部脑膨出综合征","AR",267750,5,3,10,1,"COL18A1",0.85,18,"同义",13203,"0.51=21/41","位于基因组单拷贝区域+DNA结构正常",80781,"21q22.3","NM_030582.3"]
["12309A(99)v320",24,24,1,"12309A","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,"成骨不全1型","AD",166200,5,1,3,8,"COL1A1",1,51,"非编码区",14200,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",1277,"17q21.33","NM_000088.3"]
["12309A(99)v19773",83,83,1,"12309A","COL1A2","chr7:94047050","c.1878G>T(E32)","p.626,V>V","rs1800238",0.099,0.38,0.38,0.37,0.36,0.46,"纯合","无关","有rs号，MAF>=5%",23800505,"成骨不全2型","AD",166210,5,1,6,6,"COL1A2",1,220,"同义",13203,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",1278,"7q22.1","NM_000089.3"]
["12309A(99)v11984",11,4,0.36,"12309A","COL27A1","chr9:116931666","c.1831A>T(E3)","p.611,I>F","rs2567705",0.29,0.12,0.16,0.087,0.096,0.13,"杂合","无关","有rs号，MAF>=5%",null,"Steel综合征","AR",615155,5,3,8,1,"COL27A1",1,70,"错义",12220,"0.42=5/12","位于基因组单拷贝区域+DNA结构正常",85301,"9q32","NM_032888.2"]
["12309A(99)v14599",14,8,0.57,"12309A","COL2A1","chr12:48375568","c.2400A>G(E36)","p.800,N>N","rs1635553",0.48,0.57,0.56,0.57,0.53,0.57,"杂合","无关","有rs号，MAF>=5%",null,"原发性股骨头缺血性坏死",null,608805,5,2,7,14,"COL2A1",0.99,80,"同义",13203,"0.67=14/21","位于基因组单拷贝区域+DNA结构正常",1280,"12q13.11","NM_001844.4"]
["12309A(99)v14602",23,11,0.48,"12309A","COL2A1","chr12:48376291","c.2295G>A(E34)","p.765,G>G","rs2276454",0.43,0.57,0.57,0.57,0.52,0.6,"杂合","无关","有rs号，MAF>=5%","17697348;18523590;19430638","非典型stickler综合征",null,609508,5,2,7,14,"COL2A1",0.99,80,"同义",13203,"0.46=16/35","位于基因组单拷贝区域+DNA结构正常",1280,"12q13.11","NM_001844.4"]
["12309A(99)v14604",291,1,0,"12309A","COL2A1","chr12:48392224-48392224","IVS2-10:缺失A","非编码区",{"$nulls":5},0,null,"杂合","无关","内含子突变",null,"多发性骨骺发育异常伴近视及传导性耳聋","AD",132450,5,1,7,14,"COL2A1",0.99,80,"非编码区",2500,"0.01=2/351","位于基因组单拷贝区域+简单重复结构",1280,"12q13.11","NM_001844.4"]
["12309A(99)v14605",171,3,0.02,"12309A","COL2A1","chr12:48388268-48388269","IVS11-8至IVS11-9:缺失GA","非编码区","rs139162796",{"$nulls":4},0,0.0091,"杂合","无关","内含子突变",null,"股骨头骨骺软骨病/Perthes病","AD",150600,5,1,7,14,"COL2A1",0.99,80,"非编码区",2500,"0.01=3/206","位于基因组单拷贝区域+简单重复结构",1280,"12q13.11","NM_001844.4"]
["12309A(99)v10234",53,53,1,"12309A","COL4A2","chr13:111117745","IVS24-7C>T","剪切位点","rs3803236",0.51,0.32,0.31,0.32,0.27,0.3,"纯合","无关","有rs号，MAF>=5%",null,"脑出血、中风（易感）",null,614519,5,1,17,2,"COL4A2",1,100,"剪切位点",16202,"1.00=95/95","位于基因组单拷贝区域+DNA结构正常",1284,"13q34","NM_001846.2"]
["12309A(99)v20813",2,2,1,"12309A","COL4A3","chr2:228177479","m.6068C>T(E52)","非编码区","rs7587228",0.85,0.86,0.85,0.86,null,null,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传性遗传性肾炎（Alport综合征）","AR",203780,5,1,6,3,"COL4A3",0.98,230,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",1285,"2q36-q37","NM_000091.4"]
["12309A(99)v23477",12,1,0.08,"12309A","COL6A1","chr21:47417614","c.1462G>A(E22)","p.488,G>S",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"Ullrich型先天性肌营养不良","AD,AR",254090,2,1,1,2,"COL6A1",0.96,27,"错义",12410,"0.19=4/21","位于基因组单拷贝区域+DNA结构正常",1291,"21q22.3","NM_001848.2"]
["12309A(99)v23339",65,64,0.98,"12309A","COL6A3","chr2:238243464","c.9034C>G(E41)","p.3012,A>P","rs2270669",0.79,0.71,0.72,0.71,0.65,0.72,"纯合","无关","有rs号，MAF>=5%",null,"Ullrich型先天性肌营养不良","AD,AR",254090,5,1,7,2,"COL6A3",1,120,"错义",12220,"0.99=96/97","位于基因组单拷贝区域+DNA结构正常",1293,"2q37","NM_004369.3"]
["12309A(99)v16796",21,1,0.05,"12309A","COL7A1","chr3:48607334","c.7500G>T(E99)","p.2500,S>R",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"痒疹样大疱性表皮松解症","AD,AR",604129,3,1,3,7,"COL7A1",0.99,56,"错义",12420,"0.11=4/35","位于基因组单拷贝区域+DNA结构正常",1294,"3p21.1","NM_000094.3"]
["12309A(99)v26000",203,97,0.48,"12309A","COL9A1","chr6:70981786","c.1071A>G(E13)","p.357,R>R","rs607156",0.099,0.099,0.11,0.087,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",null,"多发性骨骺发育不良6型","AD",614135,5,1,2,2,"COL9A1",1,260,"同义",13203,"0.48=160/332","位于基因组单拷贝区域+DNA结构正常",1297,"6q12-q14","NM_001851.4"]
["12309A(99)v6845",44,22,0.5,"12309A","CORIN","chr4:47839929","c.38C>T(E1)","p.13,C>Y","rs2289433",0.69,0.72,0.69,0.75,0.66,0.64,"杂合","无关","有rs号，MAF>=5%",null,"先兆子痫/子痫惊厥5型",null,614595,5,2,3,1,"CORIN",1,250,"错义",12220,"0.50=38/76","位于基因组单拷贝区域+DNA结构正常",10699,"4p13-p12","NM_006587.2"]
["12309A(99)v16810",73,73,1,"12309A","COX10","chr17:13980350","c.476G>A(E3)","p.159,R>Q","rs2072279",0.46,0.42,0.36,0.47,0.39,0.38,"纯合","无关","有rs号，MAF>=5%",null,"线粒体复合物IV缺陷","AR",220110,5,1,4,2,"COX10",1,140,"错义",12220,"1.00=108/108","位于基因组单拷贝区域+DNA结构正常",1352,"17p12","NM_001303.3"]
["12309A(99)v15238",39,39,1,"12309A","CPA5","chr7:130002317","c.573T>C(E9)","p.191,I>I","rs1544705",0.75,0.98,0.98,0.97,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CPA5",1,89,"同义",13203,"1.00=63/63","位于基因组单拷贝区域+DNA结构正常",93979,"7q32","NM_001127441.1"]
["12309A(99)v19677",23,10,0.43,"12309A","CPN2","chr3:194062519","c.913C>T(E2)","p.305,A>T","rs3732477",0.37,0.36,0.37,0.35,0.31,0.34,"杂合","无关","有rs号，MAF>=5%",23575750,{"$nulls":3},5,null,6,0,"CPN2",1,36,"错义",12220,"0.39=13/33","位于基因组单拷贝区域+DNA结构正常",1370,"3q29","NM_001080513.2"]
["12309A(99)v11433",93,93,1,"12309A","CPOX","chr3:98304467","c.990T>C(E5)","p.330,E>E","rs1729995",0.75,0.72,0.7,0.73,0.73,0.76,"纯合","无关","有rs号，MAF>=5%",null,"遗传性粪卟啉症","AD",121300,5,1,2,1,"CPOX",0.9,160,"同义",13203,"0.99=148/149","位于基因组单拷贝区域+DNA结构正常",1371,"3q12","NM_000097.5"]
["12309A(99)v2363",18,4,0.22,"12309A","CPXM1","chr20:2777828","IVS6+10G>T","非编码区","rs742707",0.35,0.37,0.39,0.34,null,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CPXM1",0.92,51,"非编码区",16203,"0.36=9/25","位于基因组单拷贝区域+DNA结构正常",56265,"20p13","NM_001184699.1"]
["12309A(99)v2169",346,344,0.99,"12309A","CR1L","chr1:207881557","c.1363A>G(E10)","p.455,I>V","rs6683902",0.71,0.88,0.88,0.88,0.89,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CR1L",1,390,"错义",12220,"1.00=624/626","位于基因组多拷贝区域+DNA结构正常",1379,"1q32.1","NM_175710.1"]
["12309A(99)v24554",191,2,0.01,"12309A","CRIPT","chr2:46844374-46844376","m.50(E1)至m.52(E1):缺失CTG","非编码区",{"$nulls":5},0,0.013,"杂合","未知","UTR突变可能影响蛋白翻译",null,"身材矮小伴小头畸形和特殊面容",null,615789,3,2,1,1,"CRIPT",1,260,"非编码区",2440,"0.01=3/226","位于基因组单拷贝区域+简单重复结构",9419,"2p21","NM_014171.4"]
["12309A(99)v27974",4,4,1,"12309A","CROCC","chr1:17296361","c.5383C>G(E33)","p.1795,R>G","rs79354809",0.014,0.07,0.048,0.092,0.099,0.079,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"CROCC",0.81,12,"错义",12110,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",9696,"1p36.13","NM_014675.3"]
["12309A(99)v6318",65,37,0.57,"12309A","CRYGD","chr2:208986637","c.285T>C(E3)","p.95,R>R","rs2305430",0.78,0.63,0.6,0.67,0.63,0.58,"杂合","无关","有rs号，MAF>=5%","19390652;20508808;21423869","白内障4型，多种型","AD",115700,5,1,3,1,"CRYGD",1,75,"同义",13203,"0.57=66/115","位于基因组多拷贝区域+DNA结构正常",1421,"2q33-q35","NM_006891.3"]
["12309A(99)v17239",217,94,0.43,"12309A","CSMD3","chr8:113364696","c.5892A>G(E38)","p.1964,Y>Y","rs11778209",0.25,0.39,0.38,0.4,0.41,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CSMD3",1,290,"同义",13203,"0.45=182/401","位于基因组单拷贝区域+DNA结构正常",114788,"8q23.3","NM_052900.2"]
["12309A(99)v20775",16,16,1,"12309A","CST1","chr20:23731560","m.15C>T(E1)","非编码区","rs6076123",0.83,0.93,0.96,0.9,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CST1",1,190,"非编码区",14200,"1.00=20/20","位于基因组多拷贝区域+DNA结构正常",1469,"20p11.21","NM_001898.2"]
["12309A(99)v7526",173,86,0.5,"12309A","CTAGE1","chr18:19995753","c.2022T>C(E1)","p.674,P>P","rs9946145",0.69,0.79,0.74,0.83,0.84,0.83,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CTAGE1",1,220,"同义",13203,"0.52=150/289","位于基因组多拷贝区域+DNA结构正常",64693,"18p11.2","NM_172241.2"]
["12309A(99)v26333",52,52,1,"12309A","CTLA4","chr2:204732714","c.49A>G(E1)","p.17,T>A","rs231775",0.43,0.67,0.66,0.69,0.67,0.67,"纯合","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,609755,5,1,1,5,"CTLA4",1,200,"错义",12220,"1.00=100/100","位于基因组单拷贝区域+DNA结构正常",1493,"2q33","NM_001037631.2"]
["12309A(99)v31725",2,2,1,"12309A","CTSC","chr11:88055170","m.4902G>A(E4)","非编码区","rs596261",0.35,0.32,0.31,0.33,null,null,"纯合","无关","有rs号，MAF>=5%",null,"侵犯性牙周炎","AR",170650,5,1,2,3,"CTSC",1,200,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",1075,"11q14.2","NM_001114173.1"]
["12309A(99)v27418",67,38,0.57,"12309A","CTXN3","chr5:126993249","c.36G>C(E3)","p.12,V>V","rs45074",0.65,0.58,0.62,0.55,0.57,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CTXN3",1,100,"同义",13203,"0.57=56/99","位于基因组单拷贝区域+DNA结构正常",613212,"5q23.2","NM_001048252.2"]
["12309A(99)v29009",127,63,0.5,"12309A","CWC27","chr5:64097145","c.766C>G(E9)","p.256,P>A","rs7735338",0.41,0.5,0.51,0.48,0.48,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CWC27",1,270,"错义",12220,"0.47=111/236","位于基因组单拷贝区域+DNA结构正常",10283,"5q12.3","NM_005869.2"]
["12309A(99)v19613",89,39,0.44,"12309A","CX3CR1","chr3:39307256","c.745C>T(E2)","p.249,V>I","rs3732379",0.14,0.026,0.038,0.015,0.034,0.024,"杂合","无关","有rs号，MAF>=5%","17327408;17672867;17705862;18633131;19066394;20506646;21609242;24806473","人类免疫缺陷病毒易感1型",null,609423,5,2,4,3,"CX3CR1",1,130,"错义",12220,"0.42=51/121","位于基因组单拷贝区域+DNA结构正常",1524,"3p21.3","NM_001171171.1"]
["12309A(99)v21898",1,1,1,"12309A","CXorf38","chrX:40506697","c.76A>G(E1)","p.26,L>L","rs6610447",null,1,1,1,0.68,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"CXorf38",0.8,59,"同义",13303,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",159013,"Xp11.4","NM_144970.2"]
["12309A(99)v27767",22,9,0.41,"12309A","CYBA","chr16:88713501","IVS3+8A>G","非编码区","rs4782393",0.37,0.26,0.29,0.24,0.21,0.26,"杂合","无关","有rs号，MAF>=5%",null,"AR遗传慢性肉芽肿病细胞色素B阴性","AR",233690,5,3,3,1,"CYBA",0.94,20,"非编码区",16203,"0.39=13/33","位于基因组单拷贝区域+DNA结构正常",1535,"16q24","NM_000101.3"]
["12309A(99)v6969",79,32,0.41,"12309A","CYP11B1","chr8:143956693","c.1157G>A(E7)","p.386,A>V","rs4541",{"$nulls":4},0.39,0.4,"杂合","未知","蛋白结构预测结果为容忍或无害","15102677;24658007","糖皮质激素可治疗的醛固酮过多症","AD",103900,3,1,5,2,"CYP11B1",1,50,"错义",12320,"0.40=57/144","位于基因组多拷贝区域+DNA结构正常",1584,"8q21","NM_000497.3"]
["12309A(99)v20517",17,6,0.35,"12309A","CYP21A2","chr6:32006317","c.118C>T(E1)","p.40,L>L","rs6468",{"$nulls":4},0.61,0.7,"杂合","未知","预测范围之外的同义突变",null,"21-羟化酶缺陷导致的先天性肾上腺皮质增生症","AR",201910,4,3,5,1,"CYP21A2",0.97,66,"同义",13303,"0.29=7/24","位于基因组多拷贝区域+DNA结构正常",1589,"6p21.3","NM_000500.7"]
["12309A(99)v5036",12,3,0.25,"12309A","CYP2A6","chr19:41349497","m.1710G>T(E9)","非编码区","rs28399483",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",null,"华法林抵抗","AD",122700,3,1,8,3,"CYP2A6",1,180,"非编码区",14300,"0.32=6/19","位于基因组多拷贝区域+DNA结构正常",1548,"19q13.2","NM_000762.5"]
["12309A(99)v12573",268,267,1,"12309A","CYP3A7-CYP3AP1","chr7:99306685","c.1226C>G(E11)","p.409,R>T","rs2257401",0.67,0.71,0.73,0.68,0.72,0.73,"纯合","无关","有rs号，MAF>=5%",17559345,{"$nulls":3},5,null,2,0,"CYP3A7-CYP3AP1",1,380,"错义",12220,"1.00=449/451","位于基因组多拷贝区域+DNA结构正常",100861540,"7q","NM_001256497.1"]
["12309A(99)v17560",87,87,1,"12309A","CYP4F12","chr19:15789098","c.226A>G(E3)","p.76,N>D","rs609636",0.82,0.96,0.96,0.97,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CYP4F12",1,100,"错义",12220,"1.00=148/148","位于基因组多拷贝区域+DNA结构正常",66002,"19p13.1","NM_023944.3"]
["12309A(99)v18133",6,3,0.5,"12309A","DACT2","chr6:168708751","c.1686A>G(E4)","p.562,S>S","rs10945499",0.51,0.33,0.36,0.3,0.27,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"DACT2",0.88,16,"同义",13203,"0.30=3/10","位于基因组单拷贝区域+DNA结构正常",168002,"6q27","NM_214462.3"]
["12309A(99)v10576",100,100,1,"12309A","DAZAP2","chr12:51636259","c.447C>T(E4)","p.149,L>L","rs1049467",0.81,0.89,0.9,0.87,0.87,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DAZAP2",1,160,"同义",13203,"1.00=148/148","位于基因组多拷贝区域+DNA结构正常",9802,"12q12","NM_001136266.1"]
["12309A(99)v2215",51,50,0.98,"12309A","DCAF4","chr14:73404680","m.214A>C(E2)","非编码区","rs3815500",0.24,0.38,0.37,0.39,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DCAF4",1,120,"非编码区",14200,"0.98=83/85","位于基因组单拷贝区域+DNA结构正常",26094,"14q24.3","NM_001163508.1"]
["12309A(99)v3422",8,5,0.62,"12309A","DCHS1","chr11:6648573","c.5697T>C(E14)","p.1899,A>A","rs11040936",0.042,0.17,0.17,0.17,0.16,0.21,"杂合","未知","预测范围之外的同义突变",null,"Van Maldergem综合征1型","AR",601390,4,3,7,1,"DCHS1",0.95,35,"同义",13103,"0.60=6/10","位于基因组单拷贝区域+DNA结构正常",8642,"11p15.4","NM_003737.2"]
["12309A(99)v19181",4,2,0.5,"12309A","DDHD1","chr14:53619480-53619481","c.337(E1)至c.336(E1):插入GCCGCC","插入非移码","rs140904345",0.79,0.97,0.99,0.96,0.14,0.97,"杂合","未知","有rs号，MAF>=5%的非移码突变",null,"痉挛性截瘫28型","AR",609340,4,3,7,1,"DDHD1",0.96,200,"插入非移码",2222,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",80821,"14q21","NM_001160147.1"]
["12309A(99)v8279",20,20,1,"12309A","DDX11","chr12:31256546","c.2567G>A(E26)","p.856,R>H","rs1046457",0.63,0.8,0.8,0.81,0.7,0.8,"纯合","无关","有rs号，MAF>=5%",null,"华沙染色体断裂综合征","AR",613398,5,1,8,1,"DDX11",1,170,"错义",12220,"1.00=25/25","位于基因组多拷贝区域+DNA结构正常",1663,"12p11","NM_001257144.1"]
["12309A(99)v5180",14,14,1,"12309A","DDX26B","chrX:134654818","m.264T>C(E1)","非编码区","rs1890584",null,0.97,0.97,0.97,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"DDX26B",1,150,"非编码区",14300,"1.00=18/18","位于基因组单拷贝区域+DNA结构正常",203522,"Xq26.3","NM_182540.4"]
["12309A(99)v14910",136,48,0.35,"12309A","DEFB108B","chr11:71544269","c.24C>T(E1)","p.8,F>F","rs11235192",0.56,0.46,0.41,0.51,0.39,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DEFB108B",1,300,"同义",13203,"0.34=77/229","位于基因组多拷贝区域+DNA结构正常",245911,"11q13.4","NM_001002035.1"]
["12309A(99)v6917",56,56,1,"12309A","DEFB127","chr20:139745","m.380T>C(E2)","非编码区","rs4142304",0.93,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DEFB127",1,240,"非编码区",14200,"1.00=76/76","位于基因组单拷贝区域+DNA结构正常",140850,"20p13","NM_139074.2"]
["12309A(99)v3653",7,4,0.57,"12309A","DENND6B","chr22:50751529","c.1356G>C(E17)","p.452,P>P","rs67248662",0.31,0.27,0.22,0.31,0.23,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DENND6B",0.98,21,"同义",13203,"0.62=5/8","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_001001794.3"]
["12309A(99)v28913",41,21,0.51,"12309A","DES","chr2:220285309","c.828C>T(E4)","p.276,D>D","rs1058261",0.34,0.19,0.21,0.17,0.15,0.19,"杂合","无关","有rs号，MAF>=5%",null,"Kaeser型肩胛腓骨肌神经病","AD",181400,5,1,3,4,"DES",0.95,36,"同义",13203,"0.51=39/77","位于基因组单拷贝区域+DNA结构正常",1674,"2q35","NM_001927.3"]
["12309A(99)v26893",26,21,0.81,"12309A","DHRS4","chr14:24438189","m.979C>A(E8)","非编码区","rs79913059",0.6,0.8,0.8,0.8,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DHRS4",1,200,"非编码区",14200,"0.77=24/31","位于基因组多拷贝区域+DNA结构正常",10901,"14q11.2","NM_021004.2"]
["12309A(99)v21583",17,10,0.59,"12309A","DHX37","chr12:125451767","IVS10-3G>A","剪切位点","rs60252902",0.21,0.12,0.09,0.14,null,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"DHX37",0.96,41,"剪切位点",16202,"0.55=18/33","位于基因组单拷贝区域+DNA结构正常",57647,"12q24.31","NM_032656.3"]
["12309A(99)v167",9,1,0.11,"12309A","DIRAS1","chr19:2717406","c.399G>A(E2)","p.133,R>R",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"DIRAS1",0.97,9.9,"同义",13403,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",148252,"19p13.3","NM_145173.3"]
["12309A(99)v9187",16,16,1,"12309A","DISC1","chr1:231830295","c.791G>A(E2)","p.264,R>Q","rs3738401",0.23,0.23,0.27,0.2,0.22,0.24,"纯合","无关","有rs号，MAF>=5%","15386212;16389590;17673452;17997036;19197363;19255581;19300510;19693267;20531374;21483430;21878470;23639181;25012417","精神分裂症9型",null,604906,5,1,8,2,"DISC1",0.9,99,"错义",12220,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",27185,"1q42.1","NM_001012957.1"]
["12309A(99)v31000",5,5,1,"12309A","DLD","chr7:107559911","m.1847G>A(E14)","非编码区","rs4564",0.71,0.85,0.86,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",null,"二氢硫辛酰胺脱氢酶缺乏症","AR",246900,5,1,4,1,"DLD",1,290,"非编码区",14200,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",1738,"7q31-q32","NM_000108.3"]
["12309A(99)v23014",58,58,1,"12309A","DMAP1","chr1:44686322","m.1556T>C(E11)","非编码区","rs12419",0.27,0.21,0.2,0.21,null,0.23,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DMAP1",1,68,"非编码区",14200,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",55929,"1p34","NM_001034023.1"]
["12309A(99)v3318",79,79,1,"12309A","DMD","chrX:32503194","c.2621T>C(E21)","p.874,D>G","rs228406",null,0.9,0.91,0.9,0.86,0.88,"纯合","未知","未知",18339804,"杜氏肌营养不良/进行性假肥大性肌营养不良症","XR",310200,3,1,3,3,"DMD",1,150,"错义",12330,"0.99=115/116","位于基因组单拷贝区域+DNA结构正常",1756,"Xp21.2","NM_000109.3"]
["12309A(99)v4926",36,36,1,"12309A","DNAH1","chr3:52430698","c.11495A>G(E72)","p.3832,H>R","rs365048",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DNAH1",1,60,"错义",12230,"1.00=48/48","位于基因组单拷贝区域+DNA结构正常",25981,"3p21.1","NM_015512.4"]
["12309A(99)v635",132,67,0.51,"12309A","DNAH11","chr7:21627708","c.1737A>G(E10)","p.579,L>L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"原发性纤毛运动障碍7型（伴或不伴内脏异位）","AR",611884,4,3,15,1,"DNAH11",1,230,"同义",13403,"0.50=115/229","位于基因组单拷贝区域+DNA结构正常",8701,"7p21","NM_003777.3"]
["12309A(99)v12313",2,2,1,"12309A","DNAH14","chr1:225211934","m.1940G>A(E11)","非编码区","rs2501113",0.89,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"DNAH14",1,300,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",127602,"1q42.12","NM_001145154.1"]
["12309A(99)v27029",93,47,0.51,"12309A","DNAH3","chr16:21151980","c.573T>C(E5)","p.191,V>V","rs8061600",0.056,0.2,0.2,0.19,0.21,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"DNAH3",1,160,"同义",13203,"0.53=95/180","位于基因组单拷贝区域+DNA结构正常",55567,"16p12.3","NM_017539.1"]
["12309A(99)v22705",45,29,0.64,"12309A","DNAH9","chr17:11833287","c.11982A>G(E63)","p.3994,P>P","rs2286303",0.22,0.19,0.2,0.17,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"DNAH9",0.97,140,"同义",13203,"0.66=42/64","位于基因组多拷贝区域+DNA结构正常",1770,"17p12","NM_001372.3"]
["12309A(99)v27505",83,83,1,"12309A","DNAI2","chr17:72297180","IVS7-5A>G","剪切位点","rs8076337",0.26,0.2,0.17,0.23,0.22,0.21,"纯合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍9型（伴或不伴内脏异位）",null,612444,5,1,6,1,"DNAI2",1,97,"剪切位点",16202,"0.99=129/130","位于基因组单拷贝区域+DNA结构正常",64446,"17q25","NM_001172810.1"]
["12309A(99)v831",7,7,1,"12309A","DNHD1","chr11:6555365","c.2960A>G(E14)","p.987,D>G","rs7103810",0.87,0.91,0.91,0.9,0.73,0.92,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"DNHD1",1,68,"错义",12220,"0.89=8/9","位于基因组单拷贝区域+DNA结构正常",144132,"11p15.4","NM_144666.2"]
["12309A(99)v30087",21,21,1,"12309A","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",614116,5,1,4,2,"DNMT1",0.99,97,"同义",13203,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",1786,"19p13.2","NM_001130823.1"]
["12309A(99)v11526",18,1,0.06,"12309A","DOC2B","chr17:11224","c.747G>T(E5)","p.249,C>X",{"$nulls":7},"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,3,0,"DOC2B",0.6,26,"截断",15400,"0.13=4/30","位于基因组单拷贝区域+DNA结构正常",8447,"17p13.3","NM_003585.3"]
["12309A(99)v4502",188,1,0.01,"12309A","DOCK8","chr9:286554-286554","c.46(E2):缺失G","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"复发感染型高IgE综合征（隐性遗传）","AR",243700,1,3,8,2,"DOCK8",0.99,170,"缺失移码",2140,"0.01=2/231","位于基因组单拷贝区域+DNA结构正常",81704,"9p24.3","NM_001190458.1"]
["12309A(99)v7968",91,91,1,"12309A","DPP10","chr2:116599927","m.2503T>C(E26)","非编码区","rs272009",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"DPP10",0.95,280,"非编码区",14200,"1.00=145/145","位于基因组单拷贝区域+DNA结构正常",57628,"2q14.1","NM_001004360.3"]
["12309A(99)v1807",1,1,1,"12309A","DPP6","chr7:153856969","otherA>G","非编码区","rs3111942",0.84,0.98,0.98,0.98,null,null,"纯合","无关","突变在基因上，但不属于任何转录变体",null,"家族性阵发性心室颤动2型",null,612956,5,1,36,1,"DPP6",0.27,140,"非编码区",17000,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",1804,"7q36.2","NM_001039350.1"]
["12309A(99)v21417",9,4,0.44,"12309A","DPPA3","chr12:7869890","m.775T>A(E4)","非编码区","rs1055423",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"DPPA3",1,260,"非编码区",14300,"0.44=4/9","位于基因组多拷贝区域+DNA结构正常",359787,"12p13.31","NM_199286.2"]
["12309A(99)v4380",54,24,0.44,"12309A","DSCAML1","chr11:117403235","c.694G>T(E4)","p.232,H>N","rs3741280",0.45,0.51,0.53,0.5,0.51,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"DSCAML1",0.97,43,"错义",12220,"0.44=35/79","位于基因组单拷贝区域+DNA结构正常",57453,"11q23","NM_020693.2"]
["12309A(99)v4224",8,3,0.38,"12309A","DSP","chr6:7586150","m.7137T>C(E24)","非编码区","rs145079869",0.0068,0.043,0.038,0.049,0.051,0.05,"杂合","未知","UTR突变可能影响蛋白翻译",null,"致命皮肤棘层松解的大疱性表皮松解症","AR",609638,3,3,8,6,"DSP",1,130,"非编码区",14100,"0.30=3/10","位于基因组单拷贝区域+DNA结构正常",1832,"6p24","NM_001008844.1"]
["12309A(99)v4230",224,112,0.5,"12309A","DSP","chr6:7577260","c.2862C>T(E20)","p.954,C>C","rs2064217",0.28,0.21,0.22,0.2,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",null,"皮脆性卷曲毛发综合征","AR",607655,5,3,8,6,"DSP",1,130,"同义",13203,"0.48=176/366","位于基因组单拷贝区域+DNA结构正常",1832,"6p24","NM_001008844.1"]
["12309A(99)v22097",38,38,1,"12309A","DSPP","chr4:88537232","c.3418A>G(E5)","p.1140,N>D","rs140656082",0.85,0.88,0.86,0.89,0.76,0.15,"纯合","无关","有rs号，MAF>=5%",null,"牙质形成不全1型","AD",125490,5,1,28,4,"DSPP",1,140,"错义",12220,"0.98=51/52","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12309A(99)v22110",55,54,0.98,"12309A","DSPP","chr4:88536692","c.2878A>G(E5)","p.960,S>G","rs111216113",0.47,0.69,0.69,0.69,0.64,0.67,"纯合","无关","有rs号，MAF>=5%",null,"牙质形成不全，SHIELDS3型","AD",125500,5,1,28,4,"DSPP",1,140,"错义",12220,"0.98=82/84","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12309A(99)v22113",40,17,0.42,"12309A","DSPP","chr4:88537035","c.3221A>G(E5)","p.1074,D>G","rs202210195",{"$nulls":4},0.16,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"常染色体显性遗传性耳聋39型并牙本质发育不全1","AD",605594,3,1,28,4,"DSPP",1,140,"错义",12320,"0.46=33/71","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208.3"]
["12309A(99)v7257",134,134,1,"12309A","DTHD1","chr4:36292018","c.536T>A(E2)","p.179,V>D","rs1995319",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DTHD1",1,260,"错义",12220,"1.00=206/206","位于基因组单拷贝区域+DNA结构正常",401124,"4p14","NM_001170700.2"]
["12309A(99)v25975",7,1,0.14,"12309A","DUSP12","chr1:161719829","c.238G>T(E1)","p.80,V>L","rs200380226",{"$nulls":6},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"DUSP12",1,230,"错义",12320,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",11266,"1q21-q22","NM_007240.1"]
["12309A(99)v24631",192,86,0.45,"12309A","DYNC1H1","chr14:102446161","c.624G>A(E4)","p.208,P>P","rs3818188",0.21,0.42,0.4,0.44,0.48,0.46,"杂合","无关","有rs号，MAF>=5%",null,"常染色体显性下肢遗传脊髓性肌萎缩症","AD",158600,5,1,1,3,"DYNC1H1",0.99,130,"同义",13203,"0.46=149/324","位于基因组单拷贝区域+DNA结构正常",1778,"14q32","NM_001376.4"]
["12309A(99)v24261",3,1,0.33,"12309A","DYSF","chr2:71801425","c.3275G>A(E30)","p.1092,R>H",{"$nulls":5},0.00077,0,"杂合","可能相关","蛋白结构预测结果为有害",null,"Miyoshi型肌肉萎缩症1型","AR",254130,2,3,4,3,"DYSF",1,82,"错义",12410,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",8291,"2p13.3","NM_001130455.1"]
["12309A(99)v10932",15,7,0.47,"12309A","EBF2","chr8:25902501","m.140G>A(E1)","非编码区","rs7007677",0.33,0.32,0.3,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EBF2",1,200,"非编码区",14200,"0.45=9/20","位于基因组单拷贝区域+DNA结构正常",64641,"8p21.2","NM_022659.3"]
["12309A(99)v13052",18,10,0.56,"12309A","ECM1","chr1:150483355","c.470C>T(E6)","p.157,T>M","rs3737240",0.22,0.23,0.22,0.23,0.19,0.25,"杂合","无关","有rs号，MAF>=5%",18438406,"Urbach-Wiethe类脂蛋白沉积症","AR",247100,5,3,2,1,"ECM1",1,90,"错义",12220,"0.62=15/24","位于基因组单拷贝区域+DNA结构正常",1893,"1q21","NM_001202858.1"]
["12309A(99)v9371",35,35,1,"12309A","EDAR","chr2:109513654","c.1056G>A(E12)","p.352,C>C","rs12623957",0.71,0.97,0.96,0.97,0.94,0.96,"纯合","无关","有rs号，MAF>=5%",19804850,"毛发形态学1型",null,612630,5,1,5,3,"EDAR",1,77,"同义",13203,"1.00=50/50","位于基因组单拷贝区域+DNA结构正常",10913,"2q13","NM_022336.3"]
["12309A(99)v1575",24,24,1,"12309A","EFCAB12","chr3:129137127","c.651G>A(E3)","p.217,T>T","rs3796392",0.15,0.43,0.48,0.37,0.39,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"EFCAB12",1,87,"同义",13203,"1.00=33/33","位于基因组单拷贝区域+DNA结构正常",90288,"3q21.3","NM_207307.1"]
["12309A(99)v9604",91,90,0.99,"12309A","EFCAB5","chr17:28320248","c.665T>A(E5)","p.222,I>K","rs4795524",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"EFCAB5",0.98,230,"错义",12230,"0.99=134/135","位于基因组单拷贝区域+DNA结构正常",374786,"17q11.2","NM_001145053.1"]
["12309A(99)v2344",48,20,0.42,"12309A","EGFR","chr7:55229255","c.1562G>A(E13)","p.521,R>K","rs2227983",0.29,0.48,0.5,0.46,0.5,0.54,"杂合","无关","有rs号，MAF>=5%","17875215;17956637;19102716;19190167;19372140;19379518;19636371;20565774;21604062;21791631;22552271;23551418;24819665;24944790;24945674","新生儿炎症性皮肤和肠道疾病2型","AR",616069,5,3,5,2,"EGFR",1,140,"错义",12220,"0.37=34/92","位于基因组单拷贝区域+DNA结构正常",1956,"7p12","NM_005228.3"]
["12309A(99)v21163",21,1,0.05,"12309A","EGR2","chr10:64573209","c.1189G>T(E2)","p.397,P>T",{"$nulls":5},1.5E-3,null,"杂合","可能相关","蛋白结构预测结果为有害",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",605253,2,1,3,3,"EGR2",0.98,42,"错义",12410,"0.11=4/37","位于基因组多拷贝区域+DNA结构正常",1959,"10q21.1","NM_000399.3"]
["12309A(99)v25913",104,96,0.92,"12309A","EI24","chr11:125452300-125452301","c.732(E9)至c.733(E9):插入C","插入移码","rs55912941",1,1,1,1,0.2,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,2,0,"EI24",1,180,"插入移码",2120,"0.94=111/118","位于基因组单拷贝区域+DNA结构正常",9538,"11q24","NM_001007277.1"]
["12309A(99)v25371",5,1,0.2,"12309A","EIF4E1B","chr5:176073154","m.1486G>T(E9)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"EIF4E1B",1,68,"非编码区",14400,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",253314,"5q35.2","NM_001099408.1"]
["12309A(99)v12795",8,8,1,"12309A","ELF3","chr1:201981862","c.573T>C(E5)","p.191,P>P","rs2819362",0.7,0.81,0.8,0.82,0.68,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ELF3",1,73,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",1999,"1q32.2","NM_001114309.1"]
["12309A(99)v26966",117,59,0.5,"12309A","EME1","chr17:48452776","c.207A>C(E2)","p.69,E>D","rs3760413",null,0.2,0.19,0.22,0.24,0.23,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"EME1",1,120,"错义",12320,"0.50=85/170","位于基因组单拷贝区域+DNA结构正常",146956,"17q21.33","NM_001166131.1"]
["12309A(99)v2935",18,9,0.5,"12309A","EN2","chr7:155255332","c.952T>C(E2)","p.318,L>L","rs2361689",0.37,0.24,0.21,0.27,0.22,0.28,"杂合","无关","有rs号，MAF>=5%","15024396;16252243;19270442",{"$nulls":3},5,null,1,0,"EN2",0.68,7.2,"同义",13203,"0.43=10/23","位于基因组单拷贝区域+DNA结构正常",2020,"7q36","NM_001427.3"]
["12309A(99)v10611",40,22,0.55,"12309A","ENOX1","chr13:43788036","m.2322T>G(E17)","非编码区","rs703206",0.51,0.46,0.41,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ENOX1",1,230,"非编码区",14200,"0.58=36/62","位于基因组单拷贝区域+DNA结构正常",55068,"13q14.11","NM_001127615.1"]
["12309A(99)v6519",3,3,1,"12309A","ENPP5","chr6:46128269","m.2436A>G(E4)","非编码区","rs14781",0.45,0.44,0.42,0.47,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ENPP5",1,200,"非编码区",14200,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",59084,"6p21.1-p11.2","NM_021572.4"]
["12309A(99)v117",143,143,1,"12309A","EP300","chr22:41551039","c.3183T>A(E17)","p.1061,T>T","rs20552",0.67,0.81,0.79,0.83,0.8,0.81,"纯合","无关","有rs号，MAF>=5%",null,"结肠癌","AD",114500,5,1,4,2,"EP300",1,140,"同义",13203,"1.00=257/258","位于基因组单拷贝区域+DNA结构正常",2033,"22q13.2","NM_001429.3"]
["12309A(99)v11888",3,1,0.33,"12309A","EPHA8","chr1:22915891","m.1632A>T(E5)","非编码区","rs79330282",0.057,0.091,0.071,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"EPHA8",0.97,18,"非编码区",14200,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",2046,"1p36.12","NM_001006943.1"]
["12309A(99)v25519",188,98,0.52,"12309A","EPSTI1","chr13:43462422","c.1197A>T(E13)","p.399,N>K","rs1044856",0.16,0.13,0.12,0.15,0.16,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"EPSTI1",1,260,"错义",12220,"0.51=168/330","位于基因组单拷贝区域+DNA结构正常",94240,"13q13.3","NM_001002264.2"]
["12309A(99)v8837",6,3,0.5,"12309A","EPX","chr17:56270121","m.33T>C(E1)","非编码区","rs12602891",0.37,0.32,0.31,0.33,0.31,null,"杂合","无关","有rs号，MAF>=5%",null,"嗜酸性粒细胞过氧化物酶和磷脂的缺失","AR",261500,5,3,4,1,"EPX",1,80,"非编码区",14200,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",8288,"17q23.1","NM_000502.4"]
["12309A(99)v9389",26,25,0.96,"12309A","ERCC1","chr19:45912406","m.1495G>A(E9)","非编码区","rs2336219",0.28,0.44,0.45,0.42,0.4,0.44,"纯合","无关","有rs号，MAF>=5%",null,"脑额骨综合征4型","AR",610758,5,1,5,1,"ERCC1",1,75,"非编码区",14200,"0.97=32/33","位于基因组单拷贝区域+DNA结构正常",2067,"19q13.32","NM_001166049.1"]
["12309A(99)v13702",193,91,0.47,"12309A","ERI2","chr16:20802172","c.815C>T(E9)","p.272,G>D","rs2301770",0.11,0.14,0.11,0.16,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ERI2",1,200,"错义",12220,"0.43=139/322","位于基因组单拷贝区域+DNA结构正常",112479,"16p12.3","NM_080663.2"]
["12309A(99)v16124",110,110,1,"12309A","ERV3-1","chr7:64451699","c.1706T>C(E2)","p.569,N>S","rs4717229",0.89,0.88,0.9,0.86,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ERV3-1",1,130,"错义",12220,"1.00=197/197","位于基因组多拷贝区域+DNA结构正常",2086,"7q11.2","NM_001007253.3"]
["12309A(99)v27481",83,44,0.53,"12309A","ESR2","chr14:64694195","m.2012C>T(E9)","非编码区","rs928554",0.69,0.68,0.71,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ESR2",1,140,"非编码区",14200,"0.51=79/155","位于基因组单拷贝区域+DNA结构正常",2100,"14q23.2","NM_001040275.1"]
["12309A(99)v2223",52,52,1,"12309A","ETV3","chr1:157095470","c.702A>G(E5)","p.234,F>F","rs2231856",0.24,0.54,0.51,0.57,0.48,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ETV3",1,150,"同义",13203,"1.00=66/66","位于基因组单拷贝区域+DNA结构正常",2117,"1q21-q23","NM_001145312.1"]
["12309A(99)v28203",7,6,0.86,"12309A","EVC2","chr4:5624278","c.2247C>T(E14)","p.749,E>E","rs16837501",7.6E-3,0.046,0.043,0.049,0.039,0.044,"杂合","未知","预测范围之外的同义突变",null,"埃利伟氏综合症","AR",225500,4,3,5,1,"EVC2",0.97,100,"同义",13103,"0.88=7/8","位于基因组单拷贝区域+DNA结构正常",132884,"4p16.2-p16.1","NM_001166136.1"]
["12309A(99)v15794",5,1,0.2,"12309A","EVPLL","chr17:18281283","m.205C>T(E1)","非编码区","rs76549746",0.083,0.33,0.4,0.25,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"EVPLL",0.99,28,"非编码区",14200,"0.29=2/7","位于基因组多拷贝区域+DNA结构正常",645027,"17p11.2","NM_001145127.1"]
["12309A(99)v30168",142,142,1,"12309A","EXPH5","chr11:108380335","c.5899T>C(E6)","p.1967,N>D","rs1943382",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"非特异性大疱性表皮松解症","AR",615028,5,1,7,1,"EXPH5",1,150,"错义",12230,"0.99=266/269","位于基因组单拷贝区域+DNA结构正常",23086,"11q22.3","NM_015065.2"]
["12309A(99)v30811",58,33,0.57,"12309A","EYS","chr6:65336143","IVS22-5G>A","剪切位点","rs9445051",0.2,0.37,0.39,0.36,0.28,0.38,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性25型-AR",null,602772,5,2,8,1,"EYS",1,220,"剪切位点",16202,"0.59=51/86","位于基因组单拷贝区域+DNA结构正常",346007,"6q12","NM_001142800.1"]
["12309A(99)v16505",44,44,1,"12309A","F2RL1","chr5:76129053","c.621T>C(E2)","p.207,I>I","rs631465",0.88,0.5,0.43,0.56,0.5,0.52,"纯合","无关","有rs号，MAF>=5%",22914544,{"$nulls":3},5,null,2,0,"F2RL1",0.93,120,"同义",13203,"1.00=60/60","位于基因组单拷贝区域+DNA结构正常",2150,"5q13","NM_005242.4"]
["12309A(99)v11622",1,1,1,"12309A","FAM100B","chr17:74267010","m.1220T>C(E3)","非编码区","rs8901",0.49,0.59,0.58,0.6,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAM100B",0.53,5.8,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",283991,"17q25.1","NM_182565.3"]
["12309A(99)v13947",6,1,0.17,"12309A","FAM131A","chr3:184062698","c.786C>T(E6)","p.262,D>D",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"FAM131A",1,34,"同义",13403,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",131408,"3q27.1","NM_001171093.1"]
["12309A(99)v17308",18,5,0.28,"12309A","FAM131C","chr1:16385175","c.600G>A(E7)","p.200,S>S","rs17853748",{"$nulls":4},0.64,0.67,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"FAM131C",0.76,20,"同义",13303,"0.29=7/24","位于基因组多拷贝区域+DNA结构正常",348487,"1p36.13","NM_182623.2"]
["12309A(99)v2172",455,144,0.32,"12309A","FAM153B","chr5:175533585","c.623C>T(E15)","p.208,P>L","rs62389255",{"$nulls":4},0.47,0.027,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"FAM153B",1,660,"错义",12320,"0.27=239/871","位于基因组多拷贝区域+DNA结构正常",202134,"5q35.2","NM_001265615.1"]
["12309A(99)v3336",1,1,1,"12309A","FAM178B","chr2:97563745","m.126T>C(E1)","非编码区","rs4243786",0.59,0.7,0.72,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FAM178B",0.92,42,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",51252,"2q11.2","NM_016490.4"]
["12309A(99)v2173",5,2,0.4,"12309A","FAM184B","chr4:17783003","m.133G>C(E1)","非编码区","rs117905829",0.023,0.07,0.062,0.078,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"FAM184B",0.95,95,"非编码区",14100,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",27146,"4p16","NM_015688.1"]
["12309A(99)v31306",5,5,1,"12309A","FAM193B","chr5:176951276","c.2206A>G(E6)","p.736,S>P","rs337382",0.97,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAM193B",0.9,30,"错义",12220,"1.00=5/5","位于基因组单拷贝区域+DNA结构正常",54540,"5q35.3","NM_001190946.1"]
["12309A(99)v28600",115,58,0.5,"12309A","FAM208B","chr10:5789418","c.4034T>G(E15)","p.1345,V>G","rs76183460",0.018,0.031,0.024,0.039,0.032,0.029,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,12,0,"FAM208B",1,160,"错义",12110,"0.42=74/176","位于基因组单拷贝区域+DNA结构正常",54906,"10p15.1","NM_017782.4"]
["12309A(99)v29727",149,73,0.49,"12309A","FAM227B","chr15:49627607","IVS14+9T>C","非编码区","rs16962331",0.044,0.05,0.029,0.073,0.071,0.052,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"FAM227B",1,310,"非编码区",16103,"0.47=125/264","位于基因组单拷贝区域+DNA结构正常",196951,"15q21.2","NM_152647.2"]
["12309A(99)v2455",109,57,0.52,"12309A","FAM22F","chr9:97080953","c.2065A>C(E7)","p.689,S>A","rs199744889",{"$nulls":4},0.27,0.12,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"FAM22F",1,79,"错义",12320,"0.51=88/174","位于基因组多拷贝区域+DNA结构正常",54754,"9q22.32","NM_017561.1"]
["12309A(99)v6429",5,5,1,"12309A","FAM65B","chr6:24806338","m.3646T>C(E23)","非编码区","rs9393586",0.36,0.21,0.16,0.27,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FAM65B",1,160,"非编码区",14200,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",9750,"6p22.3-p21.32","NM_014722.2"]
["12309A(99)v26970",69,40,0.58,"12309A","FAM71F2","chr7:128317658","c.406C>T(E3)","p.136,R>W","rs6467210",0.33,0.54,0.59,0.49,0.5,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FAM71F2",1,150,"错义",12210,"0.59=59/100","位于基因组单拷贝区域+DNA结构正常",346653,"7q32.1","NM_001012454.3"]
["12309A(99)v6231",12,7,0.58,"12309A","FAM86A","chr16:5139186","c.814G>C(E7)","p.272,H>D","rs12928528",0.43,0.57,0.58,0.56,null,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FAM86A",1,80,"错义",12220,"0.59=13/22","位于基因组多拷贝区域+DNA结构正常",196483,"16p13.3","NM_201400.2"]
["12309A(99)v3997",117,11,0.09,"12309A","FANCD2","chr3:10088404-10088412","c.1275(E15)至IVS15+5:缺失CTTAGTAAG插入TTTAT","复杂移码","rs369823368,rs375350046",{"$nulls":4},0.0044,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,"范可尼贫血,互补D2组","AR",227646,1,3,4,1,"FANCD2",1,220,"复杂移码",2130,"0.08=11/144","位于基因组多拷贝区域+DNA结构正常",2177,"3p26","NM_001018115.1"]
["12309A(99)v2444",125,51,0.41,"12309A","FANCM","chr14:45654411-45654414","IVS17-9至IVS17-6:缺失CTTA","非编码区","rs34252356",0.27,0.13,0.14,0.12,0.11,0.16,"杂合","无关","内含子突变",null,"范可尼贫血,互补M组",null,614087,5,2,6,1,"FANCM",1,210,"非编码区",2500,"0.40=57/144","位于基因组单拷贝区域+DNA结构正常",57697,"14q21.2","NM_020937.2"]
["12309A(99)v19302",116,115,0.99,"12309A","FAT1","chr4:187557893","c.3818T>C(E5)","p.1273,H>R","rs328418",0.65,0.71,0.7,0.71,0.69,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,31,0,"FAT1",1,150,"错义",12220,"0.98=185/189","位于基因组单拷贝区域+DNA结构正常",2195,"4q35","NM_005245.3"]
["12309A(99)v4708",72,35,0.49,"12309A","FAT2","chr5:150905485","c.10350C>T(E17)","p.3450,L>L","rs36092108",0.096,0.17,0.12,0.22,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,24,0,"FAT2",1,100,"同义",13203,"0.48=51/106","位于基因组单拷贝区域+DNA结构正常",2196,"5q33.1","NM_001447.2"]
["12309A(99)v154",56,55,0.98,"12309A","FAT4","chr4:126373789","c.11618G>A(E9)","p.3873,S>N","rs12650153",0.99,1,1,1,0.99,1,"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",1,140,"错义",12220,"0.99=84/85","位于基因组单拷贝区域+DNA结构正常",79633,"4q28.1","NM_024582.4"]
["12309A(99)v12604",77,42,0.55,"12309A","FBN2","chr5:127614472","c.7200A>G(E57)","p.2400,S>S","rs190450",0.73,0.87,0.87,0.86,0.85,0.87,"杂合","无关","有rs号，MAF>=5%",null,"远端关节弯曲综合征9型","AD",121050,5,1,4,2,"FBN2",1,230,"同义",13203,"0.54=53/99","位于基因组单拷贝区域+DNA结构正常",2201,"5q23-q31","NM_001999.3"]
["12309A(99)v4169",112,57,0.51,"12309A","FBXO16","chr8:28304769","c.726C>T(E6)","p.242,M>I","rs1390963",0.47,0.58,0.59,0.57,0.61,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FBXO16",1,230,"错义",12220,"0.50=89/178","位于基因组单拷贝区域+DNA结构正常",157574,"8p21.1","NM_001258211.1"]
["12309A(99)v13958",31,18,0.58,"12309A","FBXO43","chr8:101145895","m.2998C>G(E5)","非编码区","rs3116074",0.084,0.096,0.1,0.092,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FBXO43",1,190,"非编码区",14200,"0.61=22/36","位于基因组单拷贝区域+DNA结构正常",286151,"8q22.2","NM_001029860.3"]
["12309A(99)v31037",9,5,0.56,"12309A","FCER2","chr19:7763703","c.57A>G(E2)","p.19,R>R","rs2287866",0.18,0.22,0.2,0.24,0.26,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"FCER2",1,58,"同义",13203,"0.47=9/19","位于基因组单拷贝区域+DNA结构正常",2208,"19p13.3","NM_001207019.2"]
["12309A(99)v20295",115,60,0.52,"12309A","FCGR2B","chr1:161641384","c.333G>A(E3)","p.111,T>T","rs6665610",0.14,0.072,0.052,0.092,0.076,0.062,"杂合","无关","有rs号，MAF>=5%",null,"疟疾,易感",null,611162,5,2,3,2,"FCGR2B",1,230,"同义",13203,"0.48=91/190","位于基因组多拷贝区域+DNA结构正常",2213,"1q23","NM_001002273.2"]
["12309A(99)v23455",60,33,0.55,"12309A","FCRLA","chr1:161683136","c.1115G>A(E6)","p.372,R>Q","rs11746",0.3,0.25,0.24,0.27,0.24,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FCRLA",0.98,100,"错义",12220,"0.55=53/97","位于基因组单拷贝区域+DNA结构正常",84824,"1q23.3","NM_001184866.1"]
["12309A(99)v18027",116,57,0.49,"12309A","FER1L6","chr8:125061895","c.2772G>A(E22)","p.924,K>K","rs4870887",0.48,0.51,0.5,0.52,0.51,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"FER1L6",1,190,"同义",13203,"0.46=89/195","位于基因组单拷贝区域+DNA结构正常",654463,"8q24.1","NM_001039112.2"]
["12309A(99)v6586",163,90,0.55,"12309A","FGA","chr4:155507590","c.991T>C(E5)","p.331,T>A","rs6050",0.33,0.5,0.47,0.53,0.48,0.45,"杂合","无关","有rs号，MAF>=5%","16846490;19552680;20059469;20416077;21757653;22267327;22273812;22386478;23944290;24908450","先天性异常纤维蛋白原血症/异常低纤维蛋白原血症",null,616004,5,2,2,3,"FGA",1,180,"错义",12220,"0.58=153/263","位于基因组单拷贝区域+DNA结构正常",2243,"4q28","NM_000508.3"]
["12309A(99)v13313",138,138,1,"12309A","FGFR2","chr10:123298158","c.696T>C(E6)","p.232,V>V","rs1047100",0.8,0.92,0.9,0.95,0.91,0.92,"纯合","无关","有rs号，MAF>=5%","11781872;16385451;18285324","Apert综合征","AD",101200,5,1,3,11,"FGFR2",1,180,"同义",13203,"1.00=222/222","位于基因组单拷贝区域+DNA结构正常",2263,"10q26","NM_000141.4"]
["12309A(99)v13314",15,15,1,"12309A","FGFR2","chr10:123241496","m.2650T>C(E17)","非编码区","rs1649167",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Apert综合征","AD",101200,5,1,3,11,"FGFR2",1,180,"非编码区",14200,"1.00=16/16","位于基因组多拷贝区域+DNA结构正常",2263,"10q26","NM_001144913.1"]
["12309A(99)v24632",17,17,1,"12309A","FGFR3","chr4:1807894","c.1953G>A(E14)","p.651,T>T","rs7688609",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%","19855393;21264207","Muenke综合征","AD",602849,5,1,3,13,"FGFR3",0.96,16,"同义",13203,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",2261,"4p16.3","NM_000142.4"]
["12309A(99)v241",7,1,0.14,"12309A","FIBCD1","chr9:133779448","m.1496A>G(E8)","非编码区","rs11792889",0.24,0.16,0.19,0.14,null,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FIBCD1",0.65,12,"非编码区",14200,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",84929,"9q34.12","NM_001145106.1"]
["12309A(99)v3767",38,16,0.42,"12309A","FKBP11","chr12:49317204-49317205","m.691(E6)至m.690(E6):插入G","非编码区","rs79755809",0.31,0.48,0.42,0.54,0.087,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"FKBP11",1,130,"非编码区",2420,"0.46=19/41","位于基因组单拷贝区域+简单重复结构",51303,"12q13.12","NM_001143782.1"]
["12309A(99)v4783",11,11,1,"12309A","FLJ25363","chr3:109213239","m.718G>A(E5)","非编码区","rs709428",0.45,0.58,0.62,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FLJ25363",1,230,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",401082,"3q13.13","NM_001145553.1"]
["12309A(99)v31524",22,22,1,"12309A","FLNA","chrX:153581582","IVS37-10G>C","剪切位点","rs72616474",null,0.019,0.013,0.025,0.04,0.029,"纯合","可能相关","mRNA剪接可能会受影响",null,"耳-腭-指综合征2型","XD",304120,2,1,1,11,"FLNA",1,22,"剪切位点",16301,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",2316,"Xq28","NM_001110556.1"]
["12309A(99)v12942",8,8,1,"12309A","FLNC","chr7:128486363","c.3973C>T(E23)","p.1325,L>L","rs34373805",0.35,0.47,0.48,0.46,0.38,0.42,"纯合","无关","有rs号，MAF>=5%",null,"远端肌病4型","AD",614065,5,1,9,2,"FLNC",1,41,"同义",13203,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",2318,"7q32-q35","NM_001127487.1"]
["12309A(99)v19707",11,1,0.09,"12309A","FLT4","chr5:180046658","IVS18+7C>T","非编码区",{"$nulls":7},"杂合","未知","内含子突变可能影响调控",null,"遗传性淋巴水肿1A型","AD",153100,4,1,5,2,"FLT4",0.97,30,"非编码区",16403,"0.12=2/17","位于基因组单拷贝区域+DNA结构正常",2324,"5q35.3","NM_002020.4"]
["12309A(99)v15616",100,100,1,"12309A","FMNL2","chr2:153481943","IVS15-9T>C","剪切位点","rs2346532",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FMNL2",1,200,"剪切位点",16202,"1.00=160/160","位于基因组单拷贝区域+DNA结构正常",114793,"2q23.3","NM_052905.3"]
["12309A(99)v9073",100,99,0.99,"12309A","FN1","chr2:216272907","c.2442A>T(E17)","p.814,P>P","rs7596677",0.42,0.96,0.96,0.96,0.82,0.92,"纯合","无关","有rs号，MAF>=5%",null,"血浆纤维结合蛋白缺乏症",null,614101,5,1,9,2,"FN1",1,180,"同义",13203,"0.99=142/144","位于基因组单拷贝区域+DNA结构正常",2335,"2q34","NM_002026.2"]
["12309A(99)v21029",111,55,0.5,"12309A","FNDC7","chr1:109273456","c.1785A>G(E9)","p.595,G>G","rs4970809",0.45,0.19,0.17,0.21,0.25,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FNDC7",1,150,"同义",13203,"0.50=84/168","位于基因组单拷贝区域+DNA结构正常",163479,"1p13.3","NM_001144937.1"]
["12309A(99)v28233",10,1,0.1,"12309A","FOXC1","chr6:1611175","c.495C>T(E1)","p.165,G>G",{"$nulls":5},0.00063,null,"杂合","未知","预测范围之外的同义突变",null,"虹膜角膜发育不良I型","AD",601631,4,1,1,2,"FOXC1",0.75,30,"同义",13403,"0.17=2/12","位于基因组多拷贝区域+DNA结构正常",2296,"6p25","NM_001453.2"]
["12309A(99)v18744",11,11,1,"12309A","FOXI1","chr5:169535522","c.1044T>C(E2)","p.348,Y>Y","rs10063424",0.93,0.98,0.99,0.98,0.91,0.99,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传耳聋4型伴前庭导水管扩大症","AR",600791,5,1,3,1,"FOXI1",1,43,"同义",13203,"1.00=15/15","位于基因组单拷贝区域+DNA结构正常",2299,"5q34","NM_012188.4"]
["12309A(99)v12421",4,3,0.75,"12309A","FPR3","chr19:52328213","m.1396C>A(E2)","非编码区","rs7253924",0.43,0.46,0.45,0.48,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FPR3",1,190,"非编码区",14200,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",2359,"19q13.3-q13.4","NM_002030.3"]
["12309A(99)v15526",103,51,0.5,"12309A","FREM1","chr9:14747412","c.1467A>G(E10)","p.489,V>V","rs4741426",0.14,0.17,0.16,0.17,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",null,"鼻裂或合并肛肠肾脏畸形",null,608980,5,2,7,3,"FREM1",1,190,"同义",13203,"0.49=86/176","位于基因组单拷贝区域+DNA结构正常",158326,"9p22.3","NM_001177704.1"]
["12309A(99)v10589",226,93,0.41,"12309A","FRG1","chr4:190878597","c.477C>T(E6)","p.159,C>C","rs62345290",{"$nulls":4},0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,16,0,"FRG1",1,390,"同义",13303,"0.43=193/449","位于基因组多拷贝区域+DNA结构正常",2483,"4q35","NM_004477.2"]
["12309A(99)v22013",729,60,0.08,"12309A","FRG2C","chr3:75713654-75713660","c.124(E1)至c.130(E1):缺失GGAAAAG插入AGAAA","复杂移码",{"$nulls":5},3.8E-3,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",{"$nulls":4},1,null,20,0,"FRG2C",1,910,"复杂移码",2140,"0.08=76/969","位于基因组多拷贝区域+DNA结构正常",100288801,"3p12.3","NM_001124759.1"]
["12309A(99)v25306",40,15,0.38,"12309A","FSHR","chr2:49381585","m.82C>T(E1)","非编码区","rs1394205",0.35,0.49,0.49,0.5,0.48,0.49,"杂合","无关","有rs号，MAF>=5%",null,"卵巢发育不全1型","AR",233300,5,3,3,3,"FSHR",1,170,"非编码区",14200,"0.35=22/62","位于基因组单拷贝区域+DNA结构正常",2492,"2p21-p16","NM_000145.3"]
["12309A(99)v1020",184,110,0.6,"12309A","FSTL5","chr4:162307000","c.2440T>C(E16)","p.814,K>E","rs17040982",0.093,0.17,0.17,0.17,0.23,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FSTL5",1,260,"错义",12220,"0.59=199/338","位于基因组单拷贝区域+DNA结构正常",56884,"4q32.3","NM_001128427.2"]
["12309A(99)v5650",12,5,0.42,"12309A","FXYD4","chr10:43869097","m.235C>A(E3)","非编码区","rs10899795",0.38,0.44,0.45,0.43,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FXYD4",1,97,"非编码区",14200,"0.43=6/14","位于基因组单拷贝区域+DNA结构正常",53828,"10q11.21","NM_173160.2"]
["12309A(99)v15047",125,125,1,"12309A","FYTTD1","chr3:197495334","c.182G>A(E4)","p.61,R>H","rs3205525",0.75,0.93,0.96,0.9,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FYTTD1",1,310,"错义",12210,"1.00=177/177","位于基因组单拷贝区域+DNA结构正常",84248,"3q29","NM_001011537.2"]
["12309A(99)v24858",12,4,0.33,"12309A","GAA","chr17:78087109","c.2133A>G(E15)","p.711,T>T","rs1800310",0.24,0.4,0.39,0.41,0.3,0.43,"杂合","无关","有rs号，MAF>=5%",null,"庞贝氏症(Pompe)","AR",232300,5,3,11,1,"GAA",0.97,23,"同义",13203,"0.40=8/20","位于基因组单拷贝区域+DNA结构正常",2548,"17q25.2-q25.3","NM_000152.3"]
["12309A(99)v7925",52,25,0.48,"12309A","GAD1","chr2:171678625","c.111T>C(E3)","p.37,H>H","rs769404",0.36,0.52,0.5,0.53,0.44,0.5,"杂合","无关","有rs号，MAF>=5%",null,"脑性瘫痪,痉挛性四肢瘫1型","AR",603513,5,3,1,1,"GAD1",1,200,"同义",13203,"0.49=37/75","位于基因组单拷贝区域+DNA结构正常",2571,"2q31","NM_000817.2"]
["12309A(99)v3661",5,4,0.8,"12309A","GALNS","chr16:88884466","c.1431C>T(E13)","p.477,E>E","rs2303271",0.47,0.64,0.65,0.64,0.57,0.68,"杂合","无关","有rs号，MAF>=5%",null,"粘多糖贮积症IVA型/Morquio综合征A型","AR",253000,5,3,4,1,"GALNS",0.92,53,"同义",13203,"0.75=6/8","位于基因组单拷贝区域+DNA结构正常",2588,"16q24.3","NM_000512.4"]
["12309A(99)v11489",67,67,1,"12309A","GALNT8","chr12:4835882","c.396T>G(E2)","p.132,L>L","rs2286578",0.31,0.43,0.43,0.42,0.4,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GALNT8",1,170,"同义",13203,"1.00=122/122","位于基因组单拷贝区域+DNA结构正常",26290,"12p13.3","NM_017417.1"]
["12309A(99)v21411",168,2,0.01,"12309A","GARNL3","chr9:130098461-130098470","c.928(E11)至c.937(E11):缺失GGAGAGGAAT","缺失移码",{"$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",{"$nulls":4},1,null,1,0,"GARNL3",1,230,"缺失移码",2140,"0.01=2/189","位于基因组单拷贝区域+DNA结构正常",84253,"9q33.3","NM_032293.4"]
["12309A(99)v16726",6,6,1,"12309A","GBGT1","chr9:136037742","c.58G>A(E2)","p.20,L>F","rs2073924",0.32,0.52,0.51,0.53,0.48,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GBGT1",1,74,"错义",12220,"0.92=12/13","位于基因组单拷贝区域+DNA结构正常",26301,"9q34.13-q34.3","NM_021996.4"]
["12309A(99)v30444",56,26,0.46,"12309A","GBP6","chr1:89847372","c.991G>T(E7)","p.331,A>S","rs4658359",0.81,0.72,0.73,0.7,0.72,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GBP6",1,230,"错义",12220,"0.45=34/75","位于基因组多拷贝区域+DNA结构正常",163351,"1p22.2","NM_198460.2"]
["12309A(99)v15761",26,16,0.62,"12309A","GCNT1","chr9:79117751","c.454A>G(E3)","p.152,I>V","rs2282683",0.24,0.19,0.22,0.15,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GCNT1",1,100,"错义",12220,"0.58=22/38","位于基因组多拷贝区域+DNA结构正常",2650,"9q13","NM_001097633.1"]
["12309A(99)v14871",15,9,0.6,"12309A","GDF5","chr20:34022387","c.826A>C(E2)","p.276,S>A","rs224331",0.38,0.25,0.27,0.23,0.23,0.29,"杂合","无关","有rs号，MAF>=5%",null,"腓骨发育不全和复杂型短指","AR",228900,5,3,2,9,"GDF5",1,32,"错义",12220,"0.60=12/20","位于基因组单拷贝区域+DNA结构正常",8200,"20q11.2","NM_000557.2"]
["12309A(99)v16274",93,93,1,"12309A","GEN1","chr2:17962518","c.2039C>T(E14)","p.680,T>I","rs300169",0.76,0.98,0.97,0.99,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"GEN1",1,240,"错义",12220,"0.99=141/142","位于基因组单拷贝区域+DNA结构正常",348654,"2p24.2","NM_001130009.1"]
["12309A(99)v29024",229,116,0.51,"12309A","GFM1","chr3:158366900","c.643G>A(E5)","p.215,V>I","rs2303909",0.58,0.35,0.35,0.35,0.31,0.33,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷1型","AR",609060,5,3,3,1,"GFM1",1,280,"错义",12220,"0.47=187/401","位于基因组单拷贝区域+DNA结构正常",85476,"3q25","NM_024996.5"]
["12309A(99)v10203",1,1,1,"12309A","GGH","chr8:63951312","c.16A>G(E1)","p.6,C>R","rs1800909",0.23,0.19,0.18,0.2,0.12,0.23,"纯合","无关","有rs号，MAF>=5%",17286537,{"$nulls":3},5,null,3,0,"GGH",1,310,"错义",12220,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",8836,"8q12.3","NM_003878.2"]
["12309A(99)v27588",120,120,1,"12309A","GINS2","chr16:85711860","c.516C>T(E5)","p.172,T>T","rs1053328",0.37,0.47,0.47,0.47,0.53,0.52,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GINS2",1,180,"同义",13203,"1.00=207/208","位于基因组多拷贝区域+DNA结构正常",51659,"16q24.1","NM_016095.2"]
["12309A(99)v14632",64,64,1,"12309A","GJB2","chr13:20763380","c.341T>C(E2)","p.114,E>G","rs2274083",0.031,0.23,0.2,0.25,0.26,0.19,"纯合","未知","蛋白结构预测结果为容忍或无害","19719946;10983956;11494963;15790391","常染色体隐性遗传耳聋1A型","AR",220290,3,1,2,7,"GJB2",1,95,"错义",12120,"1.00=97/97","位于基因组单拷贝区域+DNA结构正常",2706,"13q11-q12","NM_004004.5"]
["12309A(99)v26683",182,182,1,"12309A","GLDC","chr9:6533010","m.3263C>G(E25)","非编码区","rs2228098",0.76,0.95,0.96,0.95,0.94,0.95,"纯合","无关","有rs号，MAF>=5%",null,"非酮症性高甘氨血症/甘氨酸脑病","AR",605899,5,1,4,1,"GLDC",0.95,200,"非编码区",14200,"1.00=299/299","位于基因组多拷贝区域+DNA结构正常",2731,"9p22","NM_000170.2"]
["12309A(99)v26919",4,1,0.25,"12309A","GLI2","chr2:121747804","c.4314G>T(E13)","p.1438,G>G",{"$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",615849,4,1,4,2,"GLI2",0.88,30,"同义",13403,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",2736,"2q14","NM_005270.4"]
["12309A(99)v13357",57,30,0.53,"12309A","GLT25D1","chr19:17670201","c.342C>T(E2)","p.114,S>S","rs62119894",0.094,0.087,0.1,0.068,0.096,0.085,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GLT25D1",0.86,42,"同义",13203,"0.51=40/78","位于基因组单拷贝区域+DNA结构正常",79709,"19p13.11","NM_024656.2"]
["12309A(99)v28969",65,31,0.48,"12309A","GM2A","chr5:150647239","m.974A>G(E4)","非编码区","rs989",0.44,0.51,0.48,0.54,null,0.45,"杂合","无关","有rs号，MAF>=5%",null,"GM2神经节苷脂贮积病，AB变异型","AR",272750,5,3,5,1,"GM2A",1,110,"非编码区",14200,"0.51=55/107","位于基因组多拷贝区域+DNA结构正常",2760,"5q33.1","NM_000405.4"]
["12309A(99)v2959",1,1,1,"12309A","GNG7","chr19:2514565","m.899C>T(E5)","非编码区","rs3752174",0.28,0.39,0.39,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GNG7",1,71,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",2788,"19p13.3","NM_052847.2"]
["12309A(99)v28654",143,69,0.48,"12309A","GOLGA1","chr9:127685506","IVS7-4T>C","剪切位点","rs9644946",0.053,0.17,0.13,0.2,null,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GOLGA1",1,170,"剪切位点",16201,"0.47=123/264","位于基因组单拷贝区域+DNA结构正常",2800,"9q33.3","NM_002077.3"]
["12309A(99)v29361",2,2,1,"12309A","GOPC","chr6:117923599","m.107T>C(E1)","非编码区","rs3752848",0.61,0.82,0.83,0.82,0.65,null,"纯合","无关","有rs号，MAF>=5%",null,"精子生成障碍6型","AD",102530,5,1,1,1,"GOPC",1,230,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",57120,"6q21","NM_001017408.2"]
["12309A(99)v5094",3,3,1,"12309A","GP6","chr19:55525497","c.1816A>G(E8)","p.606,F>L","rs1671150",0.73,0.86,0.84,0.88,0.7,0.84,"纯合","无关","有rs号，MAF>=5%",null,"出血性疾病，血小板11型/血小板膜糖蛋白6缺乏症","AR",614201,5,1,11,1,"GP6",1,66,"错义",12220,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",51206,"19q13.4","NM_001083899.1"]
["12309A(99)v18975",204,91,0.45,"12309A","GPAM","chr10:113935379","c.392T>C(E6)","p.131,E>G","rs10787428",0.55,0.56,0.61,0.5,0.55,0.58,"杂合","无关","有rs号，MAF>=5%","16385451;16642439",{"$nulls":3},5,null,5,0,"GPAM",1,250,"错义",12210,"0.45=168/372","位于基因组单拷贝区域+DNA结构正常",57678,"10q25.2","NM_001244949.1"]
["12309A(99)v21014",86,86,1,"12309A","GPR112","chrX:135496398","c.9117G>A(E25)","p.3039,T>T","rs5930942",null,0.91,0.95,0.87,0.86,0.91,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"GPR112",1,110,"同义",13303,"1.00=137/137","位于基因组单拷贝区域+DNA结构正常",139378,"Xq26.3","NM_153834.3"]
["12309A(99)v13124",24,24,1,"12309A","GPR133","chr12:131622735","c.2490T>C(E24)","p.830,S>S","rs7302341",0.66,0.93,0.95,0.92,0.86,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPR133",1,97,"同义",13203,"0.97=37/38","位于基因组单拷贝区域+DNA结构正常",283383,"12q24.33","NM_198827.3"]
["12309A(99)v24649",87,43,0.49,"12309A","GPR171","chr3:150916327","c.847T>C(E3)","p.283,I>V","rs3732756",0.042,0.13,0.12,0.15,0.11,0.12,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"GPR171",1,130,"错义",12120,"0.50=68/135","位于基因组单拷贝区域+DNA结构正常",29909,"3q25.1","NM_013308.3"]
["12309A(99)v31509",48,47,0.98,"12309A","GPR39","chr2:133174999","c.384A>G(E1)","p.128,T>T","rs2241763",0.39,0.25,0.25,0.25,0.19,0.23,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPR39",1,63,"同义",13203,"0.97=73/75","位于基因组单拷贝区域+DNA结构正常",2863,"2q21-q22","NM_001508.2"]
["12309A(99)v54",142,141,0.99,"12309A","GPR98","chr5:89990324","c.7751A>G(E33)","p.2584,N>S","rs1878878",0.81,0.84,0.87,0.81,0.79,0.8,"纯合","无关","有rs号，MAF>=5%",null,"尤塞氏综合症IIC型","AR",605472,5,1,18,2,"GPR98",1,230,"错义",12220,"1.00=206/207","位于基因组单拷贝区域+DNA结构正常",84059,"5q13","NM_032119.3"]
["12309A(99)v7070",34,34,1,"12309A","GPRASP1","chrX:101912118","c.3277C>T(E4)","p.1093,P>S","rs2235804",null,0.16,0.18,0.14,0.14,0.15,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"GPRASP1",1,63,"错义",12310,"1.00=51/51","位于基因组多拷贝区域+DNA结构正常",9737,"Xq22.1","NM_001099410.1"]
["12309A(99)v26745",114,114,1,"12309A","GPX8","chr5:54459961","c.545A>G(E3)","p.182,K>R","rs381852",0.83,0.84,0.82,0.86,0.83,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPX8",1,280,"错义",12220,"1.00=178/178","位于基因组单拷贝区域+DNA结构正常",493869,"5q11.2","NM_001008397.2"]
["12309A(99)v20909",72,72,1,"12309A","GRHL2","chr8:102504974","m.307C>G(E1)","非编码区","rs515622",0.96,0.93,0.9,0.96,0.91,0.9,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性耳聋28型","AD",608641,5,1,1,2,"GRHL2",1,210,"非编码区",14200,"1.00=128/128","位于基因组单拷贝区域+DNA结构正常",79977,"8q22.3","NM_024915.3"]
["12309A(99)v31697",30,30,1,"12309A","GRIP2","chr3:14551444","c.2252A>G(E18)","p.751,V>A","rs9845816",0.71,0.81,0.78,0.83,0.79,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"GRIP2",1,45,"错义",12230,"0.98=50/51","位于基因组单拷贝区域+DNA结构正常",80852,"3p24-p23","NM_001080423.2"]
["12309A(99)v321",28,15,0.54,"12309A","GRK5","chr10:121140321","IVS2-6C>T","剪切位点","rs2275036",0.21,0.37,0.4,0.34,null,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GRK5",1,120,"剪切位点",16202,"0.51=19/37","位于基因组单拷贝区域+DNA结构正常",2869,"10q26.11","NM_005308.2"]
["12309A(99)v26908",5,1,0.2,"12309A","GRM7","chr3:6903200","c.125C>T(E1)","p.42,S>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,"GRM7",1,140,"错义",12410,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",2917,"3p26.1-p25.1","NM_000844.3"]
["12309A(99)v11905",23,23,1,"12309A","GSTM2","chr1:110210780","IVS1+7C>G","非编码区","rs530021",0.9,0.97,1,0.94,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GSTM2",1,220,"非编码区",16203,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",2946,"1p13.3","NM_000848.3"]
["12309A(99)v14728",215,102,0.47,"12309A","GTPBP10","chr7:89983808","c.264T>G(E3)","p.88,C>W","rs42663",0.8,0.88,0.91,0.85,0.87,0.89,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GTPBP10",1,330,"错义",12210,"0.52=199/384","位于基因组单拷贝区域+DNA结构正常",85865,"7q21.13","NM_033107.3"]
["12309A(99)v1428",68,66,0.97,"12309A","GYPA","chr4:145041707","c.72C>A(E2)","p.24,E>D","rs7658293",0.2,0.19,0.21,0.17,null,0.00018,"纯合","无关","有rs号，MAF>=5%",19300500,"疟疾,易感",null,611162,5,1,6,1,"GYPA",1,450,"错义",12220,"0.97=75/77","位于基因组多拷贝区域+DNA结构正常",2993,"4q31.21","NM_002099.6"]
["12309A(99)v30113",127,127,1,"12309A","GZMA","chr5:54404057","c.462C>G(E4)","p.154,G>G","rs1051846",0.19,0.29,0.26,0.33,0.27,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GZMA",1,290,"同义",13203,"1.00=223/224","位于基因组单拷贝区域+DNA结构正常",3001,"5q11-q12","NM_006144.3"]
["12309A(99)v12879",100,45,0.45,"12309A","HAUS6","chr9:19058743","c.1917G>C(E16)","p.639,H>Q","rs10511670",0.077,0.12,0.086,0.15,0.089,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"HAUS6",1,240,"错义",12210,"0.44=60/135","位于基因组多拷贝区域+DNA结构正常",54801,"9p22.1","NM_001270890.1"]
["12309A(99)v2943",29,14,0.48,"12309A","HBB","chr11:5246699","m.623A>T(E3)","非编码区","rs528009939",0.0006,0.0048,0.0095,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"β地中海贫血,显性包涵体型",null,603902,3,2,1,6,"HBB",1,160,"非编码区",14100,"0.50=19/38","位于基因组单拷贝区域+DNA结构正常",3043,"11p15.5","NM_000518.4"]
["12309A(99)v16562",112,111,0.99,"12309A","HCRTR2","chr6:55142337","c.922A>G(E5)","p.308,I>V","rs2653349",0.88,0.94,0.94,0.94,0.94,0.95,"纯合","无关","有rs号，MAF>=5%",24834023,{"$nulls":3},5,null,1,0,"HCRTR2",1,160,"错义",12220,"0.99=183/185","位于基因组单拷贝区域+DNA结构正常",3062,"6p12","NM_001526.3"]
["12309A(99)v19946",112,112,1,"12309A","HDLBP","chr2:242203916","c.289A>C(E5)","p.97,S>A","rs11891776",null,1,1,1,1,1,"纯合","未知","未知",{"$nulls":4},3,null,2,0,"HDLBP",0.98,130,"错义",12330,"1.00=197/197","位于基因组单拷贝区域+DNA结构正常",3069,"2q37.3","NM_001243900.1"]
["12309A(99)v29639",82,82,1,"12309A","HEATR7B2","chr5:41042284","c.1863G>T(E19)","p.621,T>T","rs325854",0.71,0.66,0.65,0.67,0.64,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"HEATR7B2",1,220,"同义",13203,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",133558,"5p13.1","NM_173489.4"]
["12309A(99)v5026",31,31,1,"12309A","HECW2","chr2:197172816","IVS10-7G>A","剪切位点","rs2305567",0.75,0.98,0.98,0.98,null,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"HECW2",1,180,"剪切位点",16201,"1.00=48/48","位于基因组单拷贝区域+DNA结构正常",57520,"2q32.3","NM_020760.1"]
["12309A(99)v3832",67,35,0.52,"12309A","HEPACAM","chr11:124794712","c.339C>T(E2)","p.113,Q>Q","rs74570840",0.05,0.084,0.071,0.097,0.093,0.094,"杂合","未知","预测范围之外的同义突变",null,"巨颅伴皮层下海绵样囊肿性脑白质病2A","AR",613925,4,3,4,2,"HEPACAM",0.76,67,"同义",13103,"0.49=54/110","位于基因组单拷贝区域+DNA结构正常",220296,"11q24.2","NM_152722.4"]
["12309A(99)v16860",30,30,1,"12309A","HEPHL1","chr11:93754508","m.131G>A(E1)","非编码区","rs2511403",0.75,0.74,0.74,0.75,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"HEPHL1",1,210,"非编码区",14200,"1.00=42/42","位于基因组单拷贝区域+DNA结构正常",341208,"11q21","NM_001098672.1"]
["12309A(99)v17610",1,1,1,"12309A","HERC3","chr4:89629066","m.4274T>C(E26)","非编码区","rs2602117",0.58,0.58,0.62,0.53,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HERC3",1,260,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",8916,"4q21","NM_014606.1"]
["12309A(99)v8797",135,135,1,"12309A","HHLA2","chr3:108072524","c.315G>A(E4)","p.105,S>S","rs2124740",0.15,0.5,0.45,0.55,0.46,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HHLA2",1,240,"同义",13203,"1.00=232/232","位于基因组单拷贝区域+DNA结构正常",11148,"3q13.13","NM_007072.2"]
["12309A(99)v30651",6,2,0.33,"12309A","HIF1AN","chr10:102295836","c.121C>G(E1)","p.41,P>A","rs2295778",0.18,0.24,0.25,0.23,0.2,0.26,"杂合","无关","有rs号，MAF>=5%","16385451;21751195",{"$nulls":3},5,null,1,0,"HIF1AN",1,140,"错义",12220,"0.46=6/13","位于基因组单拷贝区域+DNA结构正常",55662,"10q24","NM_017902.2"]
["12309A(99)v19323",122,121,0.99,"12309A","HIST1H4H","chr6:26285683","c.45T>C(E1)","p.15,G>G","rs2393593",0.79,0.9,0.9,0.89,0.88,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"HIST1H4H",1,230,"同义",13203,"0.99=182/184","位于基因组多拷贝区域+DNA结构正常",8365,"6p22.1","NM_003543.3"]
["12309A(99)v31203",3,3,1,"12309A","HIVEP3","chr1:41976328","c.7012T>C(E8)","p.2338,T>A","rs9439043",0.96,1,1,1,0.79,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"HIVEP3",1,49,"错义",12220,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",59269,"1p34","NM_001127714.2"]
["12309A(99)v23218",4,4,1,"12309A","HLA-B","chr6:31324742","IVS1-8T>C","剪切位点",null,null,0.94,0.96,0.93,0.92,0.93,"纯合","未知","剪切位点预测结果为无害",null,"严重皮肤副反应易感",null,608579,4,1,16,2,"HLA-B",0.88,34,"剪切位点",16402,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",3106,"6p21.3","NM_005514.6"]
["12309A(99)v23225",12,10,0.83,"12309A","HLA-B","chr6:31322980","c.916C>T(E5)","p.306,V>I","rs1131500",0.54,0.52,0.48,0.56,0.42,0.56,"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",0.88,34,"错义",12220,"0.80=16/20","位于基因组多拷贝区域+DNA结构正常",3106,"6p21.3","NM_005514.6"]
["12309A(99)v28848",4,4,1,"12309A","HLA-DPA1","chr6:33048542","m.14C>T(E1)","非编码区",null,null,0.85,0.88,0.82,0.78,0.85,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"HLA-DPA1",null,null,"非编码区",14400,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",3113,"6p21.3","NM_001242524.1"]
["12309A(99)v28558",55,55,1,"12309A","HLA-DQB1","chr6:32634405","m.62C>T(E1)","非编码区","rs1049053",0.8,0.88,0.91,0.86,0.67,0.83,"纯合","无关","有rs号，MAF>=5%",null,"Creutzfeldt-Jakob病","AD",123400,5,1,23,3,"HLA-DQB1",0.98,88,"非编码区",14200,"0.99=80/81","位于基因组多拷贝区域+DNA结构正常",3119,"6p21.3","NM_001243961.1"]
["12309A(99)v28575",55,24,0.44,"12309A","HLA-DQB1","chr6:32629963","c.442C>T(E3)","p.148,V>I","rs1049100",0.21,0.17,0.18,0.17,0.16,0.19,"杂合","无关","有rs号，MAF>=5%",null,"乳糜泻","AR",212750,5,3,23,3,"HLA-DQB1",0.98,88,"错义",12220,"0.42=30/72","位于基因组多拷贝区域+DNA结构正常",3119,"6p21.3","NM_001243961.1"]
["12309A(99)v7311",30,30,1,"12309A","HLA-DRB1","chr6:32552029","c.227A>T(E2)","p.76,F>Y",null,null,0.46,0.47,0.45,0.37,0.43,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"类肉瘤病,易感1型",null,181000,3,1,18,3,"HLA-DRB1",1,90,"错义",12420,"1.00=67/67","位于基因组多拷贝区域+DNA结构正常",3123,"6p21.3","NM_002124.3"]
["12309A(99)v7314",108,42,0.39,"12309A","HLA-DRB1","chr6:32548632","c.654T>A(E4)","p.218,R>S","rs1136881",{"$nulls":4},0.24,0.26,"杂合","可能相关","蛋白结构预测结果为有害",16400609,"多发性硬化症（易感）",null,126200,2,2,18,3,"HLA-DRB1",1,90,"错义",12310,"0.40=71/178","位于基因组多拷贝区域+DNA结构正常",3123,"6p21.3","NM_002124.3"]
["12309A(99)v20613",34,34,1,"12309A","HMGN3","chr6:79944355","m.101T>G(E1)","非编码区","rs9361504",0.92,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"HMGN3",1,240,"非编码区",14200,"1.00=44/44","位于基因组单拷贝区域+DNA结构正常",9324,"6q14.1","NM_001201362.1"]
["12309A(99)v6199",4,4,1,"12309A","HNF1A","chr12:121437382","c.1720A>G(E9)","p.574,S>G","rs1169305",0.99,1,1,1,0.85,1,"纯合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,6,6,"HNF1A",0.98,37,"错义",12230,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",6927,"12q24.2","NM_000545.5"]
["12309A(99)v22805",2,2,1,"12309A","HNF4A","chr20:43009684-43009685","UTR:插入TTTGA","非编码区","rs10626048",0.8,0.86,0.87,0.84,0.33,null,"纯合","无关","不在基因上的突变",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,3,3,"HNF4A",0.95,43,"非编码区",2600,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",3172,"20q13.12","NM_000457.4"]
["12309A(99)v30566",47,47,1,"12309A","HOXA4","chr7:27169093","c.714T>G(E2)","p.238,R>R","rs2158218",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HOXA4",0.77,33,"同义",13203,"1.00=88/88","位于基因组多拷贝区域+DNA结构正常",3201,"7p15.2","NM_002141.4"]
["12309A(99)v23425",88,87,0.99,"12309A","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",614074,5,1,4,1,"HPS5",1,260,"剪切位点",13202,"0.99=140/142","位于基因组单拷贝区域+DNA结构正常",11234,"11p14","NM_007216.3"]
["12309A(99)v1501",32,16,0.5,"12309A","HRAS","chr11:534242","c.81A>G(E2)","p.27,H>H","rs12628",0.3,0.19,0.18,0.2,0.18,0.19,"杂合","无关","有rs号，MAF>=5%","16835863;22618666","线状皮脂腺痣综合征/表皮痣综合征",null,163200,5,2,1,5,"HRAS",1,30,"同义",13203,"0.45=19/42","位于基因组单拷贝区域+DNA结构正常",3265,"11p15.5","NM_001130442.1"]
["12309A(99)v10145",68,67,0.99,"12309A","HRNR","chr1:152193286","c.819G>T(E3)","p.273,H>Q","rs7545406",0.35,0.32,0.3,0.33,0.4,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,33,0,"HRNR",0.99,230,"错义",12220,"0.98=108/110","位于基因组多拷贝区域+DNA结构正常",388697,"1q21.3","NM_001009931.1"]
["12309A(99)v24015",10,1,0.1,"12309A","HSD17B2","chr16:82069013","m.156G>A(E1)","非编码区","rs201909350",0.0002,0.0024,0.0048,0,null,1.9E-3,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"HSD17B2",1,99,"非编码区",14100,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",3294,"16q24.1-q24.2","NM_002153.2"]
["12309A(99)v13975",76,76,1,"12309A","HSP90AA1","chr14:102568367","c.211T>A(E2)","p.71,M>L","rs8005905",0.8,0.8,0.79,0.81,0.8,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"HSP90AA1",1,180,"错义",12220,"1.00=122/122","位于基因组单拷贝区域+DNA结构正常",3320,"14q32.33","NM_001017963.2"]
["12309A(99)v15733",99,97,0.98,"12309A","HSPG2","chr1:22217108","c.324G>A(E4)","p.108,F>F","rs2501260",0.95,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"Schwartz-Jampel综合征1（软骨营养障碍性肌强直）","AR",255800,5,1,15,2,"HSPG2",0.97,25,"同义",13203,"0.98=173/176","位于基因组单拷贝区域+DNA结构正常",3339,"1p36.1-p34","NM_005529.5"]
["12309A(99)v15744",1,1,1,"12309A","HSPG2","chr1:22191454","c.4508G>A(E36)","p.1503,A>V","rs897471",0.69,0.89,0.88,0.91,0.68,0.9,"纯合","无关","有rs号，MAF>=5%",null,"Schwartz-Jampel综合征1（软骨营养障碍性肌强直）","AR",255800,5,1,15,2,"HSPG2",0.97,25,"错义",12210,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",3339,"1p36.1-p34","NM_005529.5"]
["12309A(99)v20622",154,2,0.01,"12309A","HUS1B","chr6:656226-656226","c.719(E1):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"HUS1B",1,45,"缺失移码",2140,"0.01=2/168","位于基因组单拷贝区域+简单重复结构",135458,"6p25.3","NM_148959.3"]
["12309A(99)v29390",104,48,0.46,"12309A","HYDIN","chr16:70972620","c.6892G>C(E44)","p.2298,R>G","rs1774360",{"$nulls":4},0.5,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"原发性纤毛运动障碍5型","AR",608647,2,3,59,1,"HYDIN",1,370,"错义",12310,"0.46=86/189","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974.1"]
["12309A(99)v29440",211,88,0.42,"12309A","HYDIN","chr16:71026076","c.3682C>G(E24)","p.1228,V>L","rs1774513",{"$nulls":4},0.47,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"原发性纤毛运动障碍5型","AR",608647,3,3,59,1,"HYDIN",1,370,"错义",12320,"0.42=154/369","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974.1"]
["12309A(99)v22867",84,41,0.49,"12309A","IBTK","chr6:82933309","c.972C>T(E8)","p.324,K>K","rs9361904",0.26,0.22,0.22,0.21,0.21,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"IBTK",1,300,"同义",13203,"0.47=60/129","位于基因组单拷贝区域+DNA结构正常",25998,"6q14.1","NM_015525.2"]
["12309A(99)v22538",5,1,0.2,"12309A","IFI44L","chr1:79107756-79107757","m.1800(E9)至m.1801(E9):插入TGAGATATTCTC","非编码区","rs142656191",0.11,0.41,0.37,0.45,null,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,5,0,"IFI44L",1,230,"非编码区",2420,"0.20=1/5","位于基因组单拷贝区域+DNA结构正常",10964,"1p31.1","NM_006820.2"]
["12309A(99)v31383",169,67,0.4,"12309A","IFNA10","chr9:21207031","c.66T>C(E1)","p.22,L>L","rs10117060",{"$nulls":4},0.49,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"IFNA10",1,420,"同义",13303,"0.34=81/239","位于基因组多拷贝区域+DNA结构正常",3446,"9p22","NM_002171.1"]
["12309A(99)v23019",166,152,0.92,"12309A","IFNA4","chr9:21187311","c.220C>T(E1)","p.74,A>T","rs1062571",0.68,0.82,0.82,0.82,0.84,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"IFNA4",1,430,"错义",12210,"0.93=228/246","位于基因组多拷贝区域+DNA结构正常",3441,"9p22","NM_021068.2"]
["12309A(99)v11694",40,40,1,"12309A","IGF2R","chr6:160494409","c.4855A>G(E34)","p.1619,R>G","rs629849",null,0.85,0.83,0.86,0.81,0.84,"纯合","未知","未知","18562769;19208780;19435860;20302654;21347719","肝癌","AD",114550,3,1,9,1,"IGF2R",0.98,140,"错义",12330,"1.00=65/65","位于基因组单拷贝区域+DNA结构正常",3482,"6q26","NM_000876.2"]
["12309A(99)v9719",4,2,0.5,"12309A","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%",{"$nulls":4},5,null,35,0,"IGFN1",1,120,"非编码区",16203,"0.60=3/5","位于基因组单拷贝区域+DNA结构正常",91156,"1q32.1","NM_001164586.1"]
["12309A(99)v11908",30,13,0.43,"12309A","IGSF22","chr11:18743091","c.369G>A(E4)","p.123,H>H","rs76507217",0.042,0.15,0.16,0.15,0.15,0.16,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"IGSF22",1,83,"同义",13103,"0.45=23/51","位于基因组单拷贝区域+DNA结构正常",283284,"11p15.1","NM_173588.3"]
["12309A(99)v21729",4,3,0.75,"12309A","IGSF5","chr21:41173549","m.1592T>G(E9)","非编码区","rs62235387",0.14,0.19,0.2,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"IGSF5",1,140,"非编码区",14200,"0.80=4/5","位于基因组单拷贝区域+DNA结构正常",150084,"21q22.2","NM_001080444.1"]
["12309A(99)v17803",6,6,1,"12309A","IL10RB","chr21:34668747","m.1169A>G(E7)","非编码区","rs3171425",0.57,0.73,0.77,0.69,null,0.76,"纯合","无关","有rs号，MAF>=5%",null,"乙型肝炎病毒易感",null,610424,5,1,2,2,"IL10RB",1,170,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",3588,"21q22.11","NM_000628.4"]
["12309A(99)v16955",6,1,0.17,"12309A","IL17C","chr16:88705588","c.206G>A(E2)","p.69,S>N",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"IL17C",1,7.3,"错义",12420,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",27189,"16q24","NM_013278.3"]
["12309A(99)v14253",199,1,0.01,"12309A","IL2RA","chr10:6067924-6067924","c.129(E2):缺失T","缺失移码",{"$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,"胰岛素依赖型糖尿病10型",null,601942,1,2,1,2,"IL2RA",1,160,"缺失移码",2140,"0.01=2/214","位于基因组单拷贝区域+DNA结构正常",3559,"10p15-p14","NM_000417.2"]
["12309A(99)v9618",13,1,0.08,"12309A","IL4I1","chr19:50393153","c.1544G>T(E10)","p.515,A>E",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"IL4I1",0.95,36,"错义",12410,"0.14=2/14","位于基因组单拷贝区域+DNA结构正常",259307,"19q13.3-q13.4","NM_001258017.1"]
["12309A(99)v23043",54,28,0.52,"12309A","IMPG1","chr6:76640781","c.2132C>T(E15)","p.711,R>H","rs3734313",0.19,0.26,0.25,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%",null,"卵黄样黄斑营养不良4型",null,616151,5,2,3,1,"IMPG1",1,220,"错义",12220,"0.55=48/87","位于基因组单拷贝区域+DNA结构正常",3617,"6q14.2-q15","NM_001563.2"]
["12309A(99)v27371",190,99,0.52,"12309A","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%",{"$nulls":4},5,null,10,0,"INADL",1,260,"同义",13203,"0.54=161/298","位于基因组单拷贝区域+DNA结构正常",10207,"1p31.3","NM_176877.2"]
["12309A(99)v15585",11,11,1,"12309A","ING1","chr13:111372392","m.909T>A(E2)","非编码区","rs4773242",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"头颈部鳞状细胞癌","AR",275355,5,1,3,1,"ING1",1,31,"非编码区",14200,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",3621,"13q34","NM_001267728.1"]
["12309A(99)v21055",5,5,1,"12309A","INS-IGF2","chr11:2182224","IVS1-6A>T","剪切位点","rs689",0.65,0.94,0.94,0.93,0.86,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"INS-IGF2",1,42,"剪切位点",16201,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",723961,"11p15.5","NM_001042376.2"]
["12309A(99)v18992",87,87,1,"12309A","INTS2","chr17:59955426","c.2302T>G(E18)","p.768,N>H","rs606072",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"INTS2",1,260,"错义",12230,"1.00=141/141","位于基因组单拷贝区域+DNA结构正常",57508,"17q23.2","NM_020748.2"]
["12309A(99)v6614",79,49,0.62,"12309A","IQGAP1","chr15:91034559","IVS33-6C>G","剪切位点","rs6496679",0.17,0.058,0.057,0.058,null,0.052,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"IQGAP1",1,210,"剪切位点",16201,"0.62=70/112","位于基因组单拷贝区域+DNA结构正常",8826,"15q26.1","NM_003870.3"]
["12309A(99)v89",2,2,1,"12309A","IRAK1","chrX:153278829","c.1358G>A(E11)","p.453,S>L","rs1059703",null,0.18,0.19,0.16,0.16,0.23,"纯合","未知","蛋白结构预测结果为容忍或无害","17382928;18566305;18987746;19288030;19505919;20463618;20500689;20870441;23233309;23867959;25000179",{"$nulls":3},3,null,3,0,"IRAK1",0.77,18,"错义",12320,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",3654,"Xq28","NM_001025243.1"]
["12309A(99)v12972",79,36,0.46,"12309A","IRF6","chr1:209968684","c.174C>A(E3)","p.58,S>S","rs2013162",0.4,0.56,0.55,0.57,0.56,0.58,"杂合","无关","有rs号，MAF>=5%","15558496;17438386;18278815;18978678;19521098;19734457;20403199","VanDerWoude综合征1型","AD",119300,5,1,4,3,"IRF6",1,86,"同义",13203,"0.46=59/129","位于基因组单拷贝区域+DNA结构正常",3664,"1q32.3-q41","NM_001206696.1"]
["12309A(99)v1646",1,1,1,"12309A","ISCA1","chr9:88880262","m.1203T>G(E4)","非编码区","rs7021024",0.39,0.49,0.5,0.48,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ISCA1",1,380,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",81689,"9q21.33","NM_030940.3"]
["12309A(99)v6321",9,9,1,"12309A","ITGA2B","chr17:42453065","c.2621A>C(E26)","p.874,I>S","rs5911",0.4,0.44,0.42,0.46,0.37,0.48,"纯合","无关","有rs号，MAF>=5%",24474638,"Glanzmann血小板机能不全症/出血性疾病，血小板2型","AR",273800,5,1,4,2,"ITGA2B",1,46,"错义",12220,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",3674,"17q21.32","NM_000419.3"]
["12309A(99)v19622",73,36,0.49,"12309A","ITGAE","chr17:3660397","c.1052G>A(E10)","p.351,A>V","rs138819159",0.0016,0,0,0,null,1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ITGAE",0.96,100,"错义",12120,"0.45=57/127","位于基因组单拷贝区域+DNA结构正常",3682,"17p13","NM_002208.4"]
["12309A(99)v20356",43,17,0.4,"12309A","ITGB4","chr17:73753661","m.5681C>T(E40)","非编码区","rs9367",0.65,0.51,0.53,0.48,0.47,0.56,"杂合","无关","有rs号，MAF>=5%",null,"局限性单纯性大疱性表皮松解症","AD",131800,5,1,4,3,"ITGB4",0.96,32,"非编码区",14200,"0.46=31/68","位于基因组单拷贝区域+DNA结构正常",3691,"17q25","NM_000213.3"]
["12309A(99)v21698",111,48,0.43,"12309A","ITPR2","chr12:26810816","c.2016T>G(E18)","p.672,S>S","rs2291263",0.28,0.57,0.6,0.54,0.45,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ITPR2",1,270,"同义",13203,"0.39=59/153","位于基因组单拷贝区域+DNA结构正常",3709,"12p11","NM_002223.2"]
["12309A(99)v23256",49,49,1,"12309A","JAK1","chr1:65321388","IVS10-7G>A","剪切位点","rs310229",0.4,0.28,0.28,0.28,0.33,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"JAK1",1,180,"剪切位点",16202,"1.00=84/84","位于基因组单拷贝区域+DNA结构正常",3716,"1p32.3-p31.3","NM_002227.2"]
["12309A(99)v31026",49,19,0.39,"12309A","JAK3","chr19:17946870-17946871","IVS13-10至IVS13-11:插入G","非编码区","rs3212765",0.091,0.29,0.31,0.27,0.15,0.28,"杂合","无关","内含子突变",null,"重度联合免疫缺陷症,T细胞NK细胞抑制型","AR",600802,5,3,5,1,"JAK3",0.87,38,"非编码区",2500,"0.39=22/56","位于基因组单拷贝区域+DNA结构正常",3718,"19p13.1","NM_000215.3"]
["12309A(99)v14474",74,30,0.41,"12309A","JMY","chr5:78573790","c.1090A>T(E2)","p.364,M>L","rs13182512",0.48,0.45,0.46,0.44,0.45,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"JMY",1,140,"错义",12220,"0.39=47/121","位于基因组单拷贝区域+DNA结构正常",133746,"5q14.1","NM_152405.4"]
["12309A(99)v17741",6,6,1,"12309A","KANK4","chr1:62713224","c.2803C>G(E9)","p.935,V>L","rs2941679",0.99,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"KANK4",1,63,"错义",12220,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",163782,"1p31.3","NM_181712.4"]
["12309A(99)v12116",193,193,1,"12309A","KAT2B","chr3:20113830","c.309G>A(E2)","p.103,E>E","rs3021408",0.47,0.42,0.44,0.4,0.42,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KAT2B",0.97,260,"同义",13203,"1.00=330/330","位于基因组单拷贝区域+DNA结构正常",8850,"3p24","NM_003884.4"]
["12309A(99)v3349",14,14,1,"12309A","KCNC2","chr12:75437203","m.2732T>C(E5)","非编码区","rs10785167",0.59,0.58,0.59,0.58,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KCNC2",0.8,110,"非编码区",14200,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",3747,"12q14.1","NM_001260497.1"]
["12309A(99)v12831",4,4,1,"12309A","KCNH2","chr7:150648198","c.1956A>G(E8)","p.652,Y>Y","rs1137617",0.77,0.87,0.87,0.86,0.8,0.9,"纯合","无关","有rs号，MAF>=5%",null,"短QT综合征1",null,609620,5,1,5,2,"KCNH2",0.8,29,"同义",13203,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",3757,"7q36.1","NM_000238.3"]
["12309A(99)v10867",51,16,0.31,"12309A","KCNJ12","chr17:21318867","c.213G>A(E3)","p.71,M>I","rs73979893",{"$nulls":4},0.41,0.49,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,21,0,"KCNJ12",1,48,"错义",12320,"0.31=27/86","位于基因组单拷贝区域+DNA结构正常",3768,"17p11.2","NM_021012.4"]
["12309A(99)v1016",61,33,0.54,"12309A","KCNK10","chr14:88737193","m.63T>C(E1)","非编码区","rs1298237",0.75,0.94,0.93,0.94,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KCNK10",0.95,120,"非编码区",14200,"0.57=51/90","位于基因组单拷贝区域+DNA结构正常",54207,"14q31.3","NM_138318.2"]
["12309A(99)v27014",187,187,1,"12309A","KCNN2","chr5:113829121","c.1404A>G(E7)","p.468,E>E","rs1841251",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KCNN2",1,150,"同义",13203,"1.00=329/330","位于基因组单拷贝区域+DNA结构正常",3781,"5q22.3","NM_021614.2"]
["12309A(99)v23922",2,2,1,"12309A","KCTD1","chr18:24151110-24151113","UTR:缺失TCTC","非编码区","rs74322179",0.34,0.59,0.62,0.56,0,null,"纯合","无关","不在基因上的突变",null,"头皮、耳、乳头综合征","AD",181270,5,1,1,1,"KCTD1",0.98,58,"非编码区",2600,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",284252,"18q11.2","NM_001136205.2"]
["12309A(99)v16744",215,215,1,"12309A","KDM2A","chr11:66995603","c.1053T>C(E11)","p.351,T>T","rs3741189",0.94,0.95,0.94,0.96,0.94,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KDM2A",0.96,150,"同义",13203,"1.00=371/372","位于基因组单拷贝区域+DNA结构正常",22992,"11q13.2","NM_012308.2"]
["12309A(99)v30396",8,5,0.62,"12309A","KHDRBS3","chr8:136659507","m.1615A>G(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,3,0,"KHDRBS3",1,230,"非编码区",14400,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",10656,"8q24.2","NM_006558.1"]
["12309A(99)v27672",8,1,0.12,"12309A","KHNYN","chr14:24901027","c.560A>G(E3)","p.187,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,12,0,"KHNYN",1,54,"错义",12420,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",23351,"14q12","NM_015299.2"]
["12309A(99)v17420",70,33,0.47,"12309A","KIAA0753","chr17:6531648","c.507A>G(E3)","p.169,S>S","rs2072149",0.7,0.65,0.63,0.67,0.66,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KIAA0753",1,190,"同义",13203,"0.50=51/103","位于基因组单拷贝区域+DNA结构正常",9851,"17p13.1","NM_014804.2"]
["12309A(99)v25051",4,1,0.25,"12309A","KIAA1161","chr9:34371392","c.1550C>T(E2)","p.517,R>H",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"KIAA1161",1,14,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",57462,"9p13.3","NM_020702.3"]
["12309A(99)v16260",54,54,1,"12309A","KIAA1210","chrX:118281538","c.308C>A(E2)","p.103,G>V","rs5910522",null,1,1,1,0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"KIAA1210",1,74,"错义",12320,"1.00=85/85","位于基因组单拷贝区域+DNA结构正常",57481,"Xq24","NM_020721.1"]
["12309A(99)v14699",2,2,1,"12309A","KIAA1456","chr8:12869914","m.142G>A(E1)","非编码区","rs2460339",0.67,0.85,0.87,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"KIAA1456",1,130,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",57604,"8p22","NM_001099677.1"]
["12309A(99)v30247",17,9,0.53,"12309A","KIAA1671","chr22:25424391","c.425G>A(E1)","p.142,S>N","rs73395693",{"$nulls":4},0.012,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"KIAA1671",1,63,"错义",12320,"0.59=16/27","位于基因组单拷贝区域+DNA结构正常",85379,"22q11.23","NM_001145206.1"]
["12309A(99)v3884",6,6,1,"12309A","KIAA1751","chr1:1886519","m.2943C>A(E18)","非编码区","rs2748975",0.61,0.62,0.65,0.6,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KIAA1751",1,59,"非编码区",14200,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",85452,"1p36.33","NM_001080484.1"]
["12309A(99)v26170",15,15,1,"12309A","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%",{"$nulls":4},5,null,2,0,"KIDINS220",1,240,"非编码区",14200,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",57498,"2p24","NM_020738.2"]
["12309A(99)v19140",37,37,1,"12309A","KIF1A","chr2:241713646","c.991A>G(E12)","p.331,L>L","rs1063353",0.51,0.58,0.6,0.56,0.52,0.59,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神智力发育迟滞9型",null,614255,5,1,2,3,"KIF1A",0.94,40,"同义",13203,"1.00=67/67","位于基因组单拷贝区域+DNA结构正常",547,"2q37.3","NM_001244008.1"]
["12309A(99)v28839",131,61,0.47,"12309A","KIF20B","chr10:91487649","c.2147A>T(E17)","p.716,N>I","rs12572012",0.21,0.34,0.32,0.35,0.36,0.34,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,8,0,"KIF20B",1,260,"错义",12210,"0.51=122/240","位于基因组单拷贝区域+DNA结构正常",9585,"10q23.31","NM_016195.2"]
["12309A(99)v1699",1,1,1,"12309A","KIF5C","chr2:149642856","otherA>G","非编码区","rs11894928",0.37,0.46,0.46,0.47,null,null,"纯合","无关","突变在基因上，但不属于任何转录变体",null,"复合型脑皮质发育不良伴其他脑发育畸形2型","AD",615282,5,1,6,1,"KIF5C",0.1,160,"非编码区",17000,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",3800,"2q23.1","NM_004522.2"]
["12309A(99)v17880",497,210,0.42,"12309A","KIR2DL1","chr19:55284858","c.144G>A(E3)","p.48,Q>Q","rs116929762",{"$nulls":4},0.31,0.012,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"KIR2DL1",1,930,"同义",13303,"0.40=334/829","位于基因组多拷贝区域+DNA结构正常",3802,"19q13.4","NM_014218.2"]
["12309A(99)v10906",9,2,0.22,"12309A","KLB","chr4:39448542","c.2196C>G(E4)","p.732,P>P","rs7685429",0.77,0.74,0.73,0.74,0.6,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KLB",1,150,"同义",13203,"0.18=2/11","位于基因组单拷贝区域+DNA结构正常",152831,"4p14","NM_175737.3"]
["12309A(99)v26125",11,11,1,"12309A","KLHDC7A","chr1:18808465","c.990T>A(E1)","p.330,A>A","rs3007718",0.67,0.92,0.93,0.9,0.74,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KLHDC7A",0.98,14,"同义",13203,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",127707,"1p36.13","NM_152375.2"]
["12309A(99)v18452",32,32,1,"12309A","KLHL15","chrX:24007151","IVS3-4A>G","剪切位点","rs5925972",null,0.53,0.57,0.49,null,0.52,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"KLHL15",1,99,"剪切位点",16302,"1.00=58/58","位于基因组单拷贝区域+DNA结构正常",80311,"Xp22.1-p21","NM_030624.2"]
["12309A(99)v7461",34,34,1,"12309A","KLK1","chr19:51323473","c.433C>G(E3)","p.145,E>Q","rs5516",0.69,0.83,0.84,0.83,0.75,0.8,"纯合","无关","有rs号，MAF>=5%","17762646;19307730;20613781;21571276","尿中激肽释放酶活性下降",null,615953,5,1,3,1,"KLK1",1,64,"错义",12220,"0.98=50/51","位于基因组单拷贝区域+DNA结构正常",3816,"19q13.3","NM_002257.2"]
["12309A(99)v939",194,98,0.51,"12309A","KLKB1","chr4:187178473","c.1679G>A(E14)","p.560,R>Q","rs4253325",0.23,0.33,0.35,0.31,0.28,0.31,"杂合","无关","有rs号，MAF>=5%","16642433;17318641","前激肽释放酶缺乏症",null,612423,5,2,4,1,"KLKB1",1,230,"错义",12220,"0.51=164/324","位于基因组单拷贝区域+DNA结构正常",3818,"4q35","NM_000892.3"]
["12309A(99)v1415",119,62,0.52,"12309A","KLRG1","chr12:9147760","c.233G>A(E3)","p.78,R>H",{"$nulls":5},0.0011,0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"KLRG1",1,240,"错义",12420,"0.53=91/173","位于基因组单拷贝区域+DNA结构正常",10219,"12p13.31","NM_005810.3"]
["12309A(99)v8578",225,110,0.49,"12309A","KNTC1","chr12:123087442","IVS47+8A>G","非编码区","rs7307735",0.8,0.82,0.83,0.81,0.84,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KNTC1",1,260,"非编码区",16203,"0.49=171/350","位于基因组单拷贝区域+DNA结构正常",9735,"12q24.31","NM_014708.4"]
["12309A(99)v21773",43,43,1,"12309A","KRI1","chr19:10670184","c.1063C>G(E12)","p.355,E>Q","rs3826709",0.62,0.71,0.71,0.7,0.72,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KRI1",1,62,"错义",12220,"1.00=56/56","位于基因组单拷贝区域+DNA结构正常",65095,"19p13.2","NM_023008.3"]
["12309A(99)v24195",32,18,0.56,"12309A","KRT1","chr12:53070145","c.1389G>A(E7)","p.463,R>R","rs936958",0.43,0.25,0.22,0.27,0.18,0.24,"杂合","无关","有rs号，MAF>=5%",null,"表皮松解性掌跖角化病","AD",144200,5,1,5,6,"KRT1",0.99,120,"同义",13203,"0.54=27/50","位于基因组多拷贝区域+DNA结构正常",3848,"12q13.13","NM_006121.3"]
["12309A(99)v22165",9,8,0.89,"12309A","KRT14","chr17:39742899","c.188C>T(E1)","p.63,C>Y","rs6503640",0.99,1,1,1,0.89,1,"杂合","无关","有rs号，MAF>=5%",null,"纳尔格利综合症","AD",161000,5,1,4,6,"KRT14",0.98,63,"错义",12230,"0.83=10/12","位于基因组多拷贝区域+DNA结构正常",3861,"17q12-q21","NM_000526.4"]
["12309A(99)v8661",47,23,0.49,"12309A","KRT26","chr17:38926002","IVS5+4G>A","剪切位点","rs16966256",0.17,0.19,0.16,0.21,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KRT26",1,200,"剪切位点",16202,"0.46=35/76","位于基因组单拷贝区域+DNA结构正常",353288,"17q21.2","NM_181539.4"]
["12309A(99)v7530",6,5,0.83,"12309A","KRT6B","chr12:52845801","c.62T>C(E1)","p.21,N>S","rs428894",{"$nulls":4},0.55,0.65,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"先天性厚甲症4型",null,615728,3,2,5,1,"KRT6B",1,160,"错义",12320,"0.83=5/6","位于基因组多拷贝区域+DNA结构正常",3854,"12q13.13","NM_005555.3"]
["12309A(99)v2138",73,43,0.59,"12309A","KRT72","chr12:52986187","c.791T>C(E4)","p.264,Y>C","rs12833456",0.37,0.55,0.57,0.53,0.55,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KRT72",0.93,75,"错义",12210,"0.59=80/136","位于基因组单拷贝区域+DNA结构正常",140807,"12q13.13","NM_001146225.1"]
["12309A(99)v25317",65,26,0.4,"12309A","KRT83","chr12:52710246","IVS6+6T>C","剪切位点","rs2270267",0.38,0.2,0.21,0.18,0.25,0.2,"杂合","无关","有rs号，MAF>=5%",null,"念珠状发","AD",158000,5,1,9,1,"KRT83",1,77,"剪切位点",16202,"0.44=51/117","位于基因组多拷贝区域+DNA结构正常",3889,"12q13","NM_002282.3"]
["12309A(99)v2038",94,94,1,"12309A","KRT9","chr17:39723990","c.1407T>A(E7)","p.469,G>G","rs3890472",0.65,0.95,0.96,0.95,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",null,"表皮松解性掌跖角化病","AD",144200,5,1,4,1,"KRT9",1,190,"同义",13203,"1.00=138/138","位于基因组单拷贝区域+DNA结构正常",3857,"17q21.1-q21.2","NM_000226.3"]
["12309A(99)v16402",2,2,1,"12309A","KRTAP10-4","chr21:45994488","c.853G>T(E1)","p.285,G>C","rs396912",0.19,0.22,0.2,0.24,0.2,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KRTAP10-4",0.87,7,"错义",12220,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",386672,"21q22.3","NM_198687.1"]
["12309A(99)v7128",10,9,0.9,"12309A","KRTAP4-1","chr17:39340852","c.255G>A(E1)","p.85,R>R","rs2320230",0.58,0.55,0.57,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KRTAP4-1",1,29,"同义",13203,"0.91=10/11","位于基因组单拷贝区域+DNA结构正常",85285,"17q12-q21","NM_033060.2"]
["12309A(99)v27815",137,137,1,"12309A","KRTAP9-3","chr17:39388852","c.99T>C(E1)","p.33,C>C","rs1860551",0.96,0.94,0.97,0.91,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KRTAP9-3",1,190,"同义",13203,"1.00=185/185","位于基因组多拷贝区域+DNA结构正常",83900,"17q12-q21","NM_031962.2"]
["12309A(99)v25594",176,93,0.53,"12309A","L3MBTL4","chr18:6046717","IVS17+10T>C","非编码区","rs7234770",0.58,0.65,0.67,0.63,0.55,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"L3MBTL4",1,250,"非编码区",16203,"0.54=168/311","位于基因组多拷贝区域+DNA结构正常",91133,"18p11.31","NM_173464.3"]
["12309A(99)v17706",43,20,0.47,"12309A","LAMA1","chr18:6999628","c.4479T>C(E32)","p.1493,S>S","rs625106",0.47,0.27,0.25,0.29,0.28,0.32,"杂合","无关","有rs号，MAF>=5%",null," Poretti-Boltshauser综合征","AR",615960,5,3,6,1,"LAMA1",1,170,"同义",13203,"0.52=33/63","位于基因组单拷贝区域+DNA结构正常",284217,"18p11.3","NM_005559.3"]
["12309A(99)v29485",5,1,0.2,"12309A","LAMA5","chr20:60898731","IVS44-5G>T","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,15,0,"LAMA5",0.9,10,"剪切位点",16402,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",3911,"20q13.2-q13.3","NM_005560.3"]
["12309A(99)v29561",3,3,1,"12309A","LAMC1","chr1:182993025","c.174C>T(E1)","p.58,A>A","rs10911194",0.52,0.59,0.62,0.55,0.45,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"LAMC1",0.99,170,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",3915,"1q31","NM_002293.3"]
["12309A(99)v3843",4,2,0.5,"12309A","LAPTM4B","chr8:98863930","m.1338T>C(E7)","非编码区","rs1136595",0.51,0.37,0.37,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LAPTM4B",0.76,160,"非编码区",14200,"0.40=2/5","位于基因组多拷贝区域+DNA结构正常",55353,"8q22.1","NM_018407.4"]
["12309A(99)v28306",36,16,0.44,"12309A","LBP","chr20:36979265","c.291T>C(E3)","p.97,P>P","rs2232582",0.21,0.065,0.038,0.092,0.09,0.089,"杂合","无关","有rs号，MAF>=5%","16820586;18056482;24535275",{"$nulls":3},5,null,5,0,"LBP",1,130,"同义",13203,"0.44=21/48","位于基因组单拷贝区域+DNA结构正常",3929,"20q11.23","NM_004139.3"]
["12309A(99)v12624",55,32,0.58,"12309A","LCT","chr2:136546110","c.5568A>G(E17)","p.1856,A>A","rs2278544",0.44,0.41,0.39,0.42,0.37,0.44,"杂合","无关","有rs号，MAF>=5%",23029545,"幼儿型乳糖不耐症","AR",223000,5,3,7,1,"LCT",1,110,"同义",13203,"0.58=52/89","位于基因组单拷贝区域+DNA结构正常",3938,"2q21","NM_002299.2"]
["12309A(99)v2384",117,58,0.5,"12309A","LDHAL6B","chr15:59500116","c.977T>C(E1)","p.326,I>T","rs3825937",0.4,0.6,0.58,0.62,0.62,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"LDHAL6B",1,140,"错义",12210,"0.49=96/195","位于基因组多拷贝区域+DNA结构正常",92483,"15q22.2","NM_033195.2"]
["12309A(99)v10380",23,12,0.52,"12309A","LDLRAP1","chr1:25890189","c.654A>G(E7)","p.218,T>T","rs28969504",0.59,0.48,0.48,0.48,0.46,0.45,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性高胆固醇血症",null,603813,5,2,2,1,"LDLRAP1",0.91,57,"同义",13203,"0.46=18/39","位于基因组单拷贝区域+DNA结构正常",26119,"1p36-p35","NM_015627.2"]
["12309A(99)v31324",139,62,0.45,"12309A","LGALS8","chr1:236706300","c.635T>A(E9)","p.212,L>X","rs2273865",0.13,0.16,0.18,0.15,0.13,0.15,"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%",{"$nulls":4},5,null,5,0,"LGALS8",1,220,"截断",15200,"0.47=104/222","位于基因组单拷贝区域+DNA结构正常",3964,"1q43","NM_006499.4"]
["12309A(99)v18453",68,29,0.43,"12309A","LHX4","chr1:180243524","c.983A>G(E6)","p.328,N>S","rs7536561",0.43,0.63,0.58,0.68,0.6,0.58,"杂合","无关","有rs号，MAF>=5%",null,"联合垂体激素缺陷4型","AD",262700,5,1,1,1,"LHX4",1,73,"错义",12220,"0.45=42/93","位于基因组单拷贝区域+DNA结构正常",89884,"1q25.2","NM_033343.3"]
["12309A(99)v13226",125,59,0.47,"12309A","LILRA2","chr19:55098667","IVS7-1G>A","剪切位点","rs2241524",0.096,0.3,0.27,0.33,0.28,0.3,"杂合","无关","突变在经典剪切位点上",{"$nulls":4},5,null,3,0,"LILRA2",1,150,"剪切位点",16204,"0.40=84/208","位于基因组多拷贝区域+DNA结构正常",11027,"19q13.4","NM_001130917.1"]
["12309A(99)v10524",62,60,0.97,"12309A","LILRB3","chr19:54725995","c.363G>A(E4)","p.121,Y>Y","rs61187720",0.67,0.73,0.72,0.74,0.64,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"LILRB3",0.99,100,"同义",13203,"0.98=84/86","位于基因组多拷贝区域+DNA结构正常",11025,"19q13.4","NM_001081450.1"]
["12309A(99)v28001",117,117,1,"12309A","LIN54","chr4:83900043","c.138A>G(E3)","p.46,V>V","rs6535422",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LIN54",1,240,"同义",13203,"1.00=190/190","位于基因组单拷贝区域+DNA结构正常",132660,"4q21.22","NM_001115007.1"]
["12309A(99)v21247",62,32,0.52,"12309A","LINS","chr15:101113862","c.1216C>T(E5)","p.406,V>M","rs12719734",0.9,0.61,0.63,0.58,0.59,0.61,"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",12230,"0.55=54/98","位于基因组单拷贝区域+DNA结构正常",55180,"15q26.3","NM_001040616.2"]
["12309A(99)v3352",103,59,0.57,"12309A","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%",{"$nulls":4},5,null,3,0,"LIPK",1,250,"错义",12210,"0.60=109/182","位于基因组单拷贝区域+DNA结构正常",643414,"10q23.31","NM_001080518.1"]
["12309A(99)v7644",23,1,0.04,"12309A","LMNA","chr1:156104702","c.410G>T(E4)","p.137,R>L","rs59332535",{"$nulls":4},0.00063,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"致死性限制性真皮病","AR",275210,2,3,2,11,"LMNA",0.98,26,"错义",12310,"0.12=4/32","位于基因组单拷贝区域+DNA结构正常",4000,"1q22","NM_001257374.1"]
["12309A(99)v25367",48,48,1,"12309A","LOC100129083","chr19:51920613","m.663C>T(E3)","非编码区","rs1010425",0.83,0.87,0.84,0.9,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LOC100129083",1,27,"非编码区",14200,"1.00=60/60","位于基因组多拷贝区域+DNA结构正常",100129083,"19q13.41","NM_001256795.1"]
["12309A(99)v21686",15,14,0.93,"12309A","LOC100996295","chr17:76497778","m.3237T>C(E2)","非编码区","rs671899",0.43,0.68,0.67,0.69,null,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"LOC100996295",null,null,"非编码区",14200,"0.90=19/21","位于基因组单拷贝区域+DNA结构正常",100996295,"-","XM_003846285.1"]
["12309A(99)v18685",77,35,0.45,"12309A","LOC100996575","chr1:144617179","c.481T>C(E5)","p.161,F>L","rs12059286",0.076,0.15,0.16,0.15,null,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"LOC100996575",1,160,"错义",12230,"0.44=56/127","位于基因组多拷贝区域+DNA结构正常",100996575,"-","XM_003846383.2"]
["12309A(99)v11804",89,89,1,"12309A","LOXHD1","chr18:44063598","c.2960G>A(E22)","p.987,A>V","rs1377016",0.38,0.75,0.76,0.73,0.74,0.73,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传耳聋77型",null,613079,5,1,6,1,"LOXHD1",1,110,"错义",12220,"1.00=140/140","位于基因组单拷贝区域+DNA结构正常",125336,"18q21.1","NM_001145472.2"]
["12309A(99)v2097",81,27,0.33,"12309A","LPAR3","chr1:85331808-85331809","m.212(E2)至m.211(E2):插入AGA","非编码区","rs146269415",0.74,0.52,0.55,0.49,0.033,0.5,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"LPAR3",1,120,"非编码区",2420,"0.35=31/89","位于基因组单拷贝区域+DNA结构正常",23566,"1p22.3","NM_012152.2"]
["12309A(99)v25524",49,21,0.43,"12309A","LRIG1","chr3:66444615","c.1317G>A(E12)","p.439,S>S","rs6793110",0.28,0.06,0.071,0.049,0.074,0.083,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LRIG1",0.93,100,"同义",13203,"0.46=29/63","位于基因组单拷贝区域+DNA结构正常",26018,"3p14","NM_015541.2"]
["12309A(99)v11203",15,9,0.6,"12309A","LRIT2","chr10:85981889","c.1440G>A(E3)","p.480,G>G","rs12218853",0.19,0.26,0.3,0.21,0.2,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"LRIT2",1,80,"同义",13203,"0.59=10/17","位于基因组单拷贝区域+DNA结构正常",340745,"10q23.1","NM_001017924.2"]
["12309A(99)v9548",8,7,0.88,"12309A","LRP5","chr11:68192690","c.3357G>A(E15)","p.1119,V>V","rs556442",0.58,0.75,0.74,0.76,0.66,0.73,"杂合","无关","有rs号，MAF>=5%","17137849;18058054;18588671;23490293;24736728","vanBuchem病（泛发性骨皮质增厚症）","AD",607636,5,1,4,7,"LRP5",0.95,37,"同义",13203,"0.83=10/12","位于基因组单拷贝区域+DNA结构正常",4041,"11q13.4","NM_002335.2"]
["12309A(99)v9550",32,32,1,"12309A","LRP5","chr11:68171013","c.1647T>C(E8)","p.549,F>F","rs545382",0.84,0.98,0.99,0.98,0.97,0.99,"纯合","无关","有rs号，MAF>=5%","17137849;18588671;19506792","骨质疏松症","AD",166710,5,1,4,7,"LRP5",0.95,37,"同义",13203,"1.00=52/52","位于基因组多拷贝区域+DNA结构正常",4041,"11q13.4","NM_002335.2"]
["12309A(99)v1316",26,13,0.5,"12309A","LRRC16B","chr14:24526206","c.1035T>C(E13)","p.345,P>P","rs45484702",0.22,0.38,0.39,0.37,0.31,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LRRC16B",1,62,"同义",13203,"0.48=15/31","位于基因组单拷贝区域+DNA结构正常",90668,"14q11.2","NM_138360.3"]
["12309A(99)v30420",4,1,0.25,"12309A","LRRC4B","chr19:51021715","c.1255C>T(E3)","p.419,G>S",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"LRRC4B",0.89,6.9,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",94030,"19q13.33","NM_001080457.1"]
["12309A(99)v3162",78,27,0.35,"12309A","LRRIQ1","chr12:85449465","c.894T>A(E8)","p.298,V>V","rs7974418",0.6,0.42,0.48,0.37,0.4,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"LRRIQ1",1,250,"同义",13203,"0.38=46/122","位于基因组单拷贝区域+DNA结构正常",84125,"12q21.31","NM_001079910.1"]
["12309A(99)v4819",30,30,1,"12309A","LSG1","chr3:194362721","m.2368G>A(E14)","非编码区","rs1060827",0.83,0.73,0.73,0.73,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LSG1",1,190,"非编码区",14200,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",55341,"3q29","NM_018385.2"]
["12309A(99)v19258",11,6,0.55,"12309A","LSR","chr19:35739702","m.144G>A(E1)","非编码区","rs16970163",0.22,0.16,0.14,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LSR",0.98,26,"非编码区",14200,"0.50=7/14","位于基因组单拷贝区域+DNA结构正常",51599,"19q13.12","NM_001260489.1"]
["12309A(99)v25486",136,136,1,"12309A","LUZP2","chr11:25098938","c.922G>C(E11)","p.308,E>Q","rs7930185",0.44,0.83,0.78,0.88,0.79,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LUZP2",1,280,"错义",12220,"1.00=236/237","位于基因组单拷贝区域+DNA结构正常",338645,"11p14.3","NM_001009909.3"]
["12309A(99)v6482",111,55,0.5,"12309A","LY75-CD302","chr2:160738677","c.1204G>A(E7)","p.402,L>L","rs16822581",0.21,0.32,0.32,0.33,0.32,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LY75-CD302",1,250,"同义",13203,"0.51=102/201","位于基因组单拷贝区域+DNA结构正常",100526664,"2q","NM_001198759.1"]
["12309A(99)v20088",16,7,0.44,"12309A","MAATS1","chr3:119421934","m.66A>G(E1)","非编码区","rs7634701",0.18,0.21,0.18,0.25,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MAATS1",1,230,"非编码区",14200,"0.42=10/24","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_033364.3"]
["12309A(99)v19194",2,2,1,"12309A","MAFG","chr17:79881293","m.152C>G(E1)","非编码区","rs79001837",0.075,0.35,0.39,0.31,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MAFG",1,12,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",4097,"17q25.3","NM_032711.3"]
["12309A(99)v25101",108,105,0.97,"12309A","MAGEC1","chrX:140994171","c.981C>G(E4)","p.327,H>Q","rs176047",null,0.73,0.75,0.71,0.75,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"MAGEC1",1,84,"错义",12320,"0.97=166/172","位于基因组多拷贝区域+DNA结构正常",9947,"Xq26","NM_005462.4"]
["12309A(99)v7218",2,2,1,"12309A","MAGEL2","chr15:23888891","m.4103A>T(E1)","非编码区","rs8920",0.77,0.79,0.78,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Prader-Willi类似综合征","AD",615547,5,1,2,1,"MAGEL2",0.89,29,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54551,"15q11-q12","NM_019066.4"]
["12309A(99)v5264",7,4,0.57,"12309A","MAML3","chr4:140640283","m.4363G>T(E5)","非编码区","rs10519504",0.15,0.14,0.16,0.12,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MAML3",1,71,"非编码区",14200,"0.50=4/8","位于基因组单拷贝区域+DNA结构正常",55534,"4q28","NM_018717.4"]
["12309A(99)v9558",5,1,0.2,"12309A","MAP1A","chr15:43820714","c.7043G>T(E4)","p.2348,S>I",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"MAP1A",1,81,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",4130,"15q15.3","NM_002373.5"]
["12309A(99)v19727",64,19,0.3,"12309A","MAP2K3","chr17:21203893","c.115T>C(E4)","p.39,S>P","rs34105301",{"$nulls":4},0.5,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,17,0,"MAP2K3",1,110,"错义",12320,"0.27=25/91","位于基因组单拷贝区域+DNA结构正常",5606,"17q11.2","NM_002756.4"]
["12309A(99)v3796",2,1,0.5,"12309A","MAP7D1","chr1:36646204","m.3087G>A(E17)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"MAP7D1",0.91,28,"非编码区",14400,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",55700,"1p34.3","NM_018067.3"]
["12309A(99)v10989",1,1,1,"12309A","MAPK13","chr6:36109010","m.3057A>G(E12)","非编码区","rs2815804",0.47,0.72,0.74,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MAPK13",1,65,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",5603,"6p21.31","NM_002754.4"]
["12309A(99)v5623",226,95,0.42,"12309A","MARCH7","chr2:160599717","c.299C>G(E3)","p.100,T>S","rs17813964",0.038,0.029,0.0095,0.049,0.035,0.028,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"MARCH7",1,220,"错义",12120,"0.42=187/443","位于基因组单拷贝区域+DNA结构正常",64844,"2q24.2","NM_022826.2"]
["12309A(99)v19902",21,21,1,"12309A","MAST3","chr19:18252829","IVS20+4A>G","剪切位点","rs613339",0.94,0.97,0.96,0.98,null,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MAST3",0.85,34,"剪切位点",16202,"1.00=30/30","位于基因组单拷贝区域+DNA结构正常",23031,"19p13.11","NM_015016.1"]
["12309A(99)v8820",17,17,1,"12309A","MBD5","chr2:149270710","m.5682A>G(E15)","非编码区","rs16828708",0.45,0.84,0.85,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神智力发育迟滞1型","AD",156200,5,1,1,1,"MBD5",1,170,"非编码区",14200,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",55777,"2q23.1","NM_018328.4"]
["12309A(99)v19326",44,44,1,"12309A","MBOAT4","chr8:29989399","m.1451G>A(E3)","非编码区","rs13272159",0.32,0.22,0.22,0.22,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MBOAT4",1,97,"非编码区",14200,"1.00=72/72","位于基因组单拷贝区域+DNA结构正常",619373,"8p12","NM_001100916.1"]
["12309A(99)v23637",117,69,0.59,"12309A","MCF2L2","chr3:182897920","c.3044A>G(E28)","p.1015,M>T","rs35070271",0.19,0.31,0.29,0.32,0.32,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MCF2L2",1,230,"错义",12220,"0.56=116/208","位于基因组多拷贝区域+DNA结构正常",23101,"3q27.1","NM_015078.2"]
["12309A(99)v12197",152,69,0.45,"12309A","MCTP1","chr5:94278129","c.321T>C(E4)","p.107,V>V","rs293035",0.26,0.51,0.52,0.5,0.49,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MCTP1",0.93,210,"剪切位点",13202,"0.45=116/257","位于基因组单拷贝区域+DNA结构正常",79772,"5q15","NM_001002796.2"]
["12309A(99)v8093",2,2,1,"12309A","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%",{"$nulls":4},5,null,1,0,"MDM4",1,210,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",4194,"1q32","NM_001204171.1"]
["12309A(99)v27394",86,40,0.47,"12309A","MECR","chr1:29529699","c.369T>C(E5)","p.123,A>A","rs1062924",0.75,0.56,0.55,0.58,0.59,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MECR",1,110,"同义",13203,"0.47=65/138","位于基因组单拷贝区域+DNA结构正常",51102,"1p35.3","NM_001024732.1"]
["12309A(99)v16001",39,16,0.41,"12309A","MEFV","chr16:3297181","c.1422C>T(E5)","p.474,E>E","rs224208",0.64,0.63,0.7,0.56,0.58,0.62,"杂合","无关","有rs号，MAF>=5%","18576390;19784369;9288758;10364520","常染色体显性家族性地中海热","AD",134610,5,1,7,2,"MEFV",0.96,61,"同义",13203,"0.36=20/56","位于基因组单拷贝区域+DNA结构正常",4210,"16p13.3","NM_000243.2"]
["12309A(99)v17617",96,96,1,"12309A","MELK","chr9:36674842","c.1563C>T(E16)","p.521,N>N","rs2274473",0.75,0.92,0.91,0.93,0.85,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MELK",1,280,"同义",13203,"1.00=152/152","位于基因组单拷贝区域+DNA结构正常",9833,"9p13.2","NM_001256685.1"]
["12309A(99)v28428",15,1,0.07,"12309A","METRN","chr16:767185","c.680G>A(E4)","p.227,R>Q","rs200421583",0.0004,0,0,0,null,0,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"METRN",0.58,7.4,"错义",12120,"0.14=4/28","位于基因组单拷贝区域+DNA结构正常",79006,"16p13.3","NM_024042.2"]
["12309A(99)v12667",41,41,1,"12309A","MFAP3","chr5:153429169","m.403A>G(E2)","非编码区","rs478020",0.62,0.73,0.75,0.71,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MFAP3",1,130,"非编码区",14200,"1.00=55/55","位于基因组单拷贝区域+DNA结构正常",4238,"5q32-q33.2","NM_001242336.1"]
["12309A(99)v2198",49,49,1,"12309A","MFGE8","chr15:89450587","c.226G>T(E3)","p.76,L>M","rs1878326",0.64,0.44,0.43,0.45,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MFGE8",0.94,74,"错义",12220,"0.99=80/81","位于基因组单拷贝区域+DNA结构正常",4240,"15q25","NM_001114614.1"]
["12309A(99)v14458",181,2,0.01,"12309A","MGA","chr15:42057160-42057160","c.7194(E22):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,5,0,"MGA",1,180,"缺失移码",2140,"0.01=2/216","位于基因组单拷贝区域+DNA结构正常",23269,"15q14","NM_001080541.2"]
["12309A(99)v8020",1,1,1,"12309A","MIB1","chr18:19449678","m.8072C>G(E21)","非编码区","rs45495193",0.29,0.32,0.33,0.32,null,null,"纯合","无关","有rs号，MAF>=5%",null,"左心室心肌致密化不全7型","AD",615092,5,1,1,1,"MIB1",0.97,230,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",57534,"18q11.2","NM_020774.2"]
["12309A(99)v17449",53,53,1,"12309A","MICA","chr6:31382932","m.1211G>A(E6)","非编码区","rs9266826",0.34,0.29,0.29,0.29,null,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,24,0,"MICA",1,58,"非编码区",14200,"1.00=81/81","位于基因组多拷贝区域+DNA结构正常",100507436,"6p21.33","NM_001177519.1"]
["12309A(99)v25249",28,28,1,"12309A","MIP","chr12:56844970","m.924A>C(E4)","非编码区","rs2935008",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"白内障15型，多类型","AD",615274,5,1,1,1,"MIP",1,75,"非编码区",14200,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",4284,"12q13","NM_012064.3"]
["12309A(99)v553",13,5,0.38,"12309A","MLF1","chr3:158323212","m.1209G>A(E7)","非编码区","rs6804259",0.58,0.35,0.35,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",null,"急性髓性白血病","AD",601626,5,1,3,1,"MLF1",0.85,270,"非编码区",14200,"0.36=5/14","位于基因组单拷贝区域+DNA结构正常",4291,"3q25.1","NM_001130156.2"]
["12309A(99)v24996",102,43,0.42,"12309A","MLL3","chr7:151949068","c.1577C>G(E11)","p.526,R>P","rs3735156",0.18,0.077,0.081,0.073,0.098,0.088,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"MLL3",1,210,"错义",12220,"0.40=72/179","位于基因组单拷贝区域+DNA结构正常",58508,"7q36.1","NM_170606.2"]
["12309A(99)v4005",53,20,0.38,"12309A","MLLT4","chr6:168314998-168314998","IVS16+5:缺失G","非编码区","rs11355618",0.1,0.062,0.052,0.073,0,0.055,"杂合","无关","内含子突变",{"$nulls":4},5,null,8,0,"MLLT4",0.98,190,"非编码区",2500,"0.36=20/55","位于基因组单拷贝区域+DNA结构正常",4301,"6q27","NM_001040000.2"]
["12309A(99)v13",30,30,1,"12309A","MMP2","chr16:55523705","c.999T>C(E7)","p.333,D>D","rs243849",null,0.8,0.83,0.77,0.78,0.79,"纯合","未知","预测范围之外的同义突变","19454611;20157405;20222942","Torg-Winchester综合征","AR",259600,4,1,5,1,"MMP2",1,76,"同义",13303,"1.00=45/45","位于基因组单拷贝区域+DNA结构正常",4313,"16q13-q21","NM_001127891.1"]
["12309A(99)v13071",150,148,0.99,"12309A","MNDA","chr1:158813819","c.477A>G(E4)","p.159,P>P","rs857870",0.53,0.69,0.67,0.71,0.67,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MNDA",1,240,"同义",13203,"0.99=239/241","位于基因组单拷贝区域+DNA结构正常",4332,"1q22","NM_002432.1"]
["12309A(99)v27420",27,14,0.52,"12309A","MOCS2","chr5:52394261","m.1152C>G(E7)","非编码区","rs191465075",0.0004,0,0,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"互补B组的钼辅因子缺乏症","AR",252160,3,3,1,1,"MOCS2",1,290,"非编码区",14100,"0.50=14/28","位于基因组单拷贝区域+DNA结构正常",4338,"5q11","NM_004531.3"]
["12309A(99)v18387",53,25,0.47,"12309A","MOV10L1","chr22:50588153","IVS20+10G>A","非编码区","rs2272840",0.25,0.31,0.32,0.3,null,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"MOV10L1",0.97,160,"非编码区",16203,"0.42=35/83","位于基因组单拷贝区域+DNA结构正常",54456,"22q13.33","NM_001164104.1"]
["12309A(99)v25622",1,1,1,"12309A","MPDU1","chr17:7491177","m.1268G>T(E7)","非编码区","rs4227",0.68,0.8,0.77,0.83,null,0.79,"纯合","无关","有rs号，MAF>=5%",null,"先天性糖基化病1F型",null,609180,5,1,2,1,"MPDU1",1,82,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",9526,"17p13.1-p12","NM_004870.3"]
["12309A(99)v5910",112,59,0.53,"12309A","MR1","chr1:181019253","c.435T>C(E4)","p.145,N>N","rs61731103",0.039,0.017,0.019,0.015,0.04,0.028,"杂合","未知","预测范围之外的同义突变",null,"非运动诱发的阵发性运动障碍1型","AD",118800,4,1,3,1,"MR1",1,150,"同义",13103,"0.53=93/176","位于基因组多拷贝区域+DNA结构正常",3140,"1q25.3","NM_001195000.1"]
["12309A(99)v1858",139,64,0.46,"12309A","MRO","chr18:48331524","c.429G>A(E4)","p.143,D>D","rs2586776",0.45,0.36,0.36,0.37,0.38,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MRO",1,180,"剪切位点",13201,"0.41=101/246","位于基因组单拷贝区域+DNA结构正常",83876,"18q21","NM_001127174.1"]
["12309A(99)v30211",60,60,1,"12309A","MRPL39","chr21:26978950","c.91A>G(E2)","p.31,S>P","rs3989369",0.91,0.96,0.97,0.96,0.94,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"MRPL39",1,290,"错义",12230,"1.00=82/82","位于基因组单拷贝区域+DNA结构正常",54148,"21q21.3","NM_017446.3"]
["12309A(99)v12359",191,191,1,"12309A","MRPS35","chr12:27867706","IVS1-7C>T","剪切位点","rs11049106",0.73,0.68,0.73,0.63,0.67,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MRPS35",1,220,"剪切位点",16202,"1.00=353/354","位于基因组单拷贝区域+DNA结构正常",60488,"12p11","NM_001190864.1"]
["12309A(99)v12368",10,1,0.1,"12309A","MSC","chr8:72755945","c.469C>T(E1)","p.157,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,2,0,"MSC",0.55,28,"错义",12410,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",9242,"8q21","NM_005098.3"]
["12309A(99)v25379",3,3,1,"12309A","MSR1","chr8:15998145","m.1641T>C(E9)","非编码区","rs12718376",0.51,0.46,0.45,0.47,null,null,"纯合","无关","有rs号，MAF>=5%",null,"前列腺癌","AD",176807,5,1,7,2,"MSR1",1,280,"非编码区",14200,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",4481,"8p22","NM_002445.3"]
["12309A(99)v4969",1,1,1,"12309A","MTF1","chr1:38276381","m.6830C>T(E11)","非编码区","rs473186",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MTF1",1,110,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",4520,"1p33","NM_005955.2"]
["12309A(99)v12761",8,4,0.5,"12309A","MTHFSD","chr16:86566042","c.727G>A(E8)","p.243,R>C","rs3751800",0.12,0.15,0.16,0.13,0.13,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MTHFSD",0.95,140,"错义",12210,"0.36=4/11","位于基因组单拷贝区域+DNA结构正常",64779,"16q24.1","NM_001159377.1"]
["12309A(99)v23309",73,31,0.42,"12309A","MTRF1","chr13:41834744","c.300C>T(E2)","p.100,E>E","rs2297555",0.67,0.53,0.48,0.59,0.59,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MTRF1",1,160,"同义",13203,"0.39=44/112","位于基因组单拷贝区域+DNA结构正常",9617,"13q14.1-q14.3","NM_004294.2"]
["12309A(99)v5883",97,41,0.42,"12309A","MTUS1","chr8:17612526","c.791C>T(E2)","p.264,C>Y","rs138713013",0.0032,0.022,0.014,0.029,0.019,0.013,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,11,0,"MTUS1",1,170,"错义",12110,"0.42=65/153","位于基因组单拷贝区域+DNA结构正常",57509,"8p22","NM_001001924.2"]
["12309A(99)v20408",117,117,1,"12309A","MUC16","chr19:9070194","c.17252A>G(E3)","p.5751,I>T","rs1344572",0.94,0.87,0.86,0.88,0.87,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,76,0,"MUC16",1,130,"错义",12220,"1.00=202/203","位于基因组多拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690.2"]
["12309A(99)v20442",92,39,0.42,"12309A","MUC16","chr19:9058907","c.28539G>C(E3)","p.9513,H>Q","rs1833777",0.42,0.51,0.52,0.5,0.48,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,76,0,"MUC16",1,130,"错义",12220,"0.47=70/149","位于基因组多拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690.2"]
["12309A(99)v20461",81,80,0.99,"12309A","MUC16","chr19:9080462","c.9569C>G(E2)","p.3190,S>T","rs2547065",0.6,0.8,0.79,0.81,0.82,0.81,"纯合","无关","有rs号，MAF>=5%",21046495,{"$nulls":3},5,null,76,0,"MUC16",1,130,"错义",12220,"0.98=139/142","位于基因组单拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690.2"]
["12309A(99)v2630",228,84,0.37,"12309A","MUC17","chr7:100679374","c.4677C>T(E3)","p.1559,D>D","rs77488581",{"$nulls":4},0.15,0.15,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,43,0,"MUC17",1,290,"同义",13303,"0.35=138/389","位于基因组多拷贝区域+DNA结构正常",140453,"7q22.1","NM_001040105.1"]
["12309A(99)v1128",33,10,0.3,"12309A","MUC2","chr11:1093512","c.5328C>A(E31)","p.1776,T>T","rs34493663",{"$nulls":4},0.46,0.35,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,31,0,"MUC2",0.98,67,"同义",13303,"0.36=16/45","位于基因组多拷贝区域+DNA结构正常",4583,"11p15.5","NM_002457.2"]
["12309A(99)v17654",67,45,0.67,"12309A","MUC20","chr3:195453243","c.1151C>T(E2)","p.384,P>L","rs3828408",{"$nulls":4},0.48,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,24,0,"MUC20",1,140,"错义",12320,"0.67=65/97","位于基因组多拷贝区域+DNA结构正常",200958,"3q29","NM_001098516.1"]
["12309A(99)v5710",71,71,1,"12309A","MUC4","chr3:195515617","c.2834G>C(E2)","p.945,T>S","rs2641776",0.92,0.77,0.82,0.72,0.71,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,152,0,"MUC4",1,87,"错义",12220,"1.00=107/107","位于基因组单拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12309A(99)v5760",81,35,0.43,"12309A","MUC4","chr3:195513433","c.5018G>A(E2)","p.1673,A>V","rs74419078",0.1,0.075,0.067,0.083,0.38,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,152,0,"MUC4",1,87,"错义",12220,"0.43=65/151","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12309A(99)v5774",11,3,0.27,"12309A","MUC4","chr3:195506582","c.11869C>T(E2)","p.3957,D>N","rs201177106",0.028,0.0072,0.0048,0.0097,0.28,0.095,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,152,0,"MUC4",1,87,"错义",12120,"0.32=7/22","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12309A(99)v5835",88,52,0.59,"12309A","MUC4","chr3:195511814","c.6637T>C(E2)","p.2213,S>G","rs72499650",0.046,0.065,0.057,0.073,0.46,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,152,0,"MUC4",1,87,"错义",12120,"0.60=87/144","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406.6"]
["12309A(99)v25024",6,1,0.17,"12309A","MUC5B","chr11:1282730","c.17181C>T(E49)","p.5727,H>H",{"$nulls":5},0.00069,null,"杂合","未知","预测范围之外的同义突变",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,4,1,34,1,"MUC5B",0.98,65,"同义",13403,"0.36=4/11","位于基因组单拷贝区域+DNA结构正常",727897,"11p15.5","NM_002458.2"]
["12309A(99)v12769",8,3,0.38,"12309A","MUC7","chr4:71347854","m.1681A>G(E4)","非编码区","rs3733491",0.62,0.79,0.8,0.79,null,null,"杂合","无关","有rs号，MAF>=5%",null,"哮喘，易感","AD",600807,5,1,5,1,"MUC7",1,280,"非编码区",14200,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",4589,"4q13.3","NM_001145006.1"]
["12309A(99)v9745",8,8,1,"12309A","MXRA5","chrX:3228144","c.8100C>G(E7)","p.2700,E>D","rs112101834",null,0.36,0.34,0.39,0.32,0.37,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,10,0,"MXRA5",1,57,"错义",12320,"1.00=10/10","位于基因组多拷贝区域+DNA结构正常",25878,"Xp22.33","NM_015419.3"]
["12309A(99)v17161",67,67,1,"12309A","MYCBPAP","chr17:48598785","c.1270G>A(E9)","p.424,A>T","rs1380657",0.81,0.88,0.88,0.87,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MYCBPAP",1,110,"错义",12220,"1.00=115/115","位于基因组单拷贝区域+DNA结构正常",84073,"17q21.33","NM_032133.4"]
["12309A(99)v6239",15,1,0.07,"12309A","MYH14","chr19:50812974","c.5939A>G(E42)","p.1980,E>G",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"周围神经病变,肌病,喉咙疼痛和听力损失","AD",614369,2,1,6,2,"MYH14",0.96,36,"错义",12410,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",79784,"19q13.33","NM_001077186.1"]
["12309A(99)v5189",6,6,1,"12309A","MYH3","chr17:10541741","c.3348A>G(E27)","p.1116,I>I","rs201626",0.26,0.6,0.6,0.6,0.52,0.61,"纯合","无关","有rs号，MAF>=5%",null,"远端关节弯曲综合征2B","AD",601680,5,1,2,2,"MYH3",1,160,"同义",13203,"1.00=8/8","位于基因组多拷贝区域+DNA结构正常",4621,"17p13.1","NM_002470.3"]
["12309A(99)v28304",54,24,0.44,"12309A","MYH9","chr22:36710183","IVS13+7T>C","非编码区","rs3752462",0.39,0.22,0.19,0.25,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传耳聋17型","AD",603622,5,1,7,6,"MYH9",1,57,"非编码区",16203,"0.50=47/94","位于基因组多拷贝区域+DNA结构正常",4627,"22q13.1","NM_002473.4"]
["12309A(99)v26286",1,1,1,"12309A","MYLK","chr3:123440967","IVS13+8G>A","非编码区","rs820355",0.91,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"家族性胸主动脉瘤7型","AD",613780,5,1,11,1,"MYLK",1,92,"非编码区",16203,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",4638,"3q21","NM_053025.3"]
["12309A(99)v21461",27,27,1,"12309A","MYO18A","chr17:27441077","c.2550C>G(E15)","p.850,P>P","rs12601535",0.69,0.89,0.9,0.88,0.84,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MYO18A",1,45,"同义",13203,"1.00=43/43","位于基因组单拷贝区域+DNA结构正常",399687,"17q11.2","NM_078471.3"]
["12309A(99)v31120",13,4,0.31,"12309A","MYO1G","chr7:45009325","c.1482G>A(E11)","p.494,H>H","rs3735484",0.42,0.63,0.63,0.64,0.57,0.62,"杂合","无关","有rs号，MAF>=5%",14740320,{"$nulls":3},5,null,4,0,"MYO1G",0.93,40,"同义",13203,"0.26=5/19","位于基因组单拷贝区域+DNA结构正常",64005,"7p13-p11.2","NM_033054.2"]
["12309A(99)v21822",57,31,0.54,"12309A","MYO7B","chr2:128321770","c.61G>A(E3)","p.21,G>S","rs2404991",0.4,0.53,0.58,0.49,0.53,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"MYO7B",1,52,"错义",12220,"0.52=50/96","位于基因组单拷贝区域+DNA结构正常",4648,"2q21.1","NM_001080527.1"]
["12309A(99)v105",57,56,0.98,"12309A","MYO9B","chr19:17273893","c.1632G>T(E10)","p.544,L>L","rs7256689",0.75,0.8,0.8,0.8,0.74,0.76,"纯合","无关","有rs号，MAF>=5%",null,"易感型乳糜泻4",null,609753,5,1,9,1,"MYO9B",0.98,56,"同义",13203,"0.96=101/105","位于基因组单拷贝区域+DNA结构正常",4650,"19p13.1","NM_001130065.1"]
["12309A(99)v6336",54,25,0.46,"12309A","MYOM2","chr8:2017399","c.656C>T(E7)","p.219,A>V","rs34823600",0.013,0.026,0.024,0.029,0.026,0.032,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,11,0,"MYOM2",1,160,"错义",12120,"0.50=36/72","位于基因组单拷贝区域+DNA结构正常",9172,"8p23.3","NM_003970.2"]
["12309A(99)v18586",16,16,1,"12309A","MYT1L","chr2:1926437","c.1104G>T(E10)","p.368,P>P","rs1529667",0.99,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MYT1L",0.99,140,"同义",13203,"1.00=20/20","位于基因组单拷贝区域+DNA结构正常",23040,"2p25.3","NM_015025.2"]
["12309A(99)v14942",112,111,0.99,"12309A","NAA30","chr14:57876265","m.1274G>A(E5)","非编码区","rs11620639",0.79,0.84,0.81,0.87,null,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NAA30",0.94,110,"非编码区",14200,"0.99=168/169","位于基因组单拷贝区域+DNA结构正常",122830,"14q22.3","NM_001011713.2"]
["12309A(99)v13012",11,7,0.64,"12309A","NAGA","chr22:42463814","c.279C>T(E3)","p.93,P>P","rs133369",0.68,0.85,0.87,0.84,0.79,0.85,"杂合","无关","有rs号，MAF>=5%",null,"Kanzaki病","AR",609242,5,3,3,2,"NAGA",1,64,"同义",13203,"0.62=10/16","位于基因组单拷贝区域+DNA结构正常",4668,"22q11","NM_000262.2"]
["12309A(99)v13264",119,58,0.49,"12309A","NALCN","chr13:101735211","c.3714G>A(E33)","p.1238,T>T","rs17677552",0.33,0.5,0.5,0.51,0.42,0.47,"杂合","无关","有rs号，MAF>=5%",null,"小儿肌张力低下伴精神运动性迟缓和特征性面容 ","AR",615419,5,3,3,1,"NALCN",1,270,"同义",13203,"0.49=88/178","位于基因组单拷贝区域+DNA结构正常",259232,"13q32.3","NM_052867.2"]
["12309A(99)v26943",137,72,0.53,"12309A","NAV3","chr12:78334194","c.339A>G(E2)","p.113,L>L","rs1382639",0.12,0.19,0.2,0.17,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"NAV3",1,200,"同义",13203,"0.53=115/218","位于基因组单拷贝区域+DNA结构正常",89795,"12q14.3","NM_014903.4"]
["12309A(99)v14160",5,5,1,"12309A","NBEAL2","chr3:47043538","c.4911C>T(E31)","p.1637,S>S","rs2305634",0.47,0.53,0.55,0.51,0.47,0.59,"纯合","无关","有rs号，MAF>=5%",null,"灰色血小板综合征/出血性疾病，血小板4型","AR",139090,5,1,3,1,"NBEAL2",0.97,33,"同义",13203,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",23218,"3p21.31","NM_015175.2"]
["12309A(99)v786",131,71,0.54,"12309A","NBPF3","chr1:21799924","c.786G>A(E7)","p.262,E>E","rs80145424",0.051,0.087,0.081,0.092,0.091,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"NBPF3",1,160,"同义",13203,"0.57=131/231","位于基因组多拷贝区域+DNA结构正常",84224,"1p36.12","NM_001256416.1"]
["12309A(99)v16751",28,13,0.46,"12309A","NCAM1","chr11:113133724-113133725","m.2729(E20)至m.2730(E20):插入ATGG","非编码区","rs146542910",0.0032,0.022,0.019,0.024,0,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"NCAM1",1,130,"非编码区",2410,"0.47=14/30","位于基因组单拷贝区域+DNA结构正常",4684,"11q23.1","NM_001076682.3"]
["12309A(99)v2696",88,40,0.45,"12309A","NCOR1","chr17:16062131","c.348A>T(E3)","p.116,P>P","rs74841437",0.015,0.082,0.11,0.053,0.051,0.064,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"NCOR1",1,190,"同义",13103,"0.47=66/139","位于基因组单拷贝区域+DNA结构正常",9611,"17p11.2","NM_001190438.1"]
["12309A(99)v27083",4,3,0.75,"12309A","NDRG4","chr16:58545426","c.1122A>G(E16)","p.374,S>S","rs42945",0.81,0.97,0.99,0.96,0.77,0.97,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NDRG4",0.86,43,"同义",13203,"0.71=5/7","位于基因组单拷贝区域+DNA结构正常",65009,"16q21-q22.1","NM_001130487.1"]
["12309A(99)v4239",12,8,0.67,"12309A","NDST1","chr5:149907641","c.789C>T(E3)","p.263,H>H","rs2273233",0.031,0.14,0.09,0.19,0.14,0.15,"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精神发育迟滞46型","AR",616116,4,3,7,1,"NDST1",1,83,"同义",13103,"0.53=9/17","位于基因组单拷贝区域+DNA结构正常",3340,"5q33.1","NM_001543.4"]
["12309A(99)v21868",338,120,0.36,"12309A","NEB","chr2:152448640","c.14734T>C(E95)","p.4912,N>D","rs200541641",{"$nulls":4},0.22,0.17,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"2型杆状体肌病","AR",256030,3,3,21,1,"NEB",1,300,"错义",12320,"0.30=188/636","位于基因组多拷贝区域+DNA结构正常",4703,"2q22","NM_001164507.1"]
["12309A(99)v9375",2,2,1,"12309A","NEDD4L","chr18:56067045","m.6709A>G(E31)","非编码区","rs1944805",0.64,0.69,0.7,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NEDD4L",1,250,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",23327,"18q21","NM_001144964.1"]
["12309A(99)v26512",14,8,0.57,"12309A","NEK8","chr17:27065211","c.1170T>C(E8)","p.390,G>G","rs3809797",0.21,0.23,0.21,0.24,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",null,"肾肝胰腺发育不良2型 ","AR",615415,5,3,2,2,"NEK8",1,57,"同义",13203,"0.59=13/22","位于基因组单拷贝区域+DNA结构正常",284086,"17q11.1","NM_178170.2"]
["12309A(99)v2329",69,69,1,"12309A","NETO1","chr18:70417396","c.1442C>T(E9)","p.481,S>N","rs922999",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NETO1",1,210,"错义",12230,"1.00=96/96","位于基因组单拷贝区域+DNA结构正常",81832,"18q22.2","NM_001201465.1"]
["12309A(99)v4341",2,1,0.5,"12309A","NFATC4","chr14:24839165","c.750C>T(E3)","p.250,D>D","rs2228233",0.4,0.45,0.43,0.47,0.31,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NFATC4",0.96,45,"同义",13203,"0.33=2/6","位于基因组单拷贝区域+DNA结构正常",4776,"14q11.2","NM_001136022.1"]
["12309A(99)v9463",54,54,1,"12309A","NFKBIZ","chr3:101576175","c.1675T>C(E12)","p.559,L>L","rs14134",0.53,0.48,0.52,0.43,0.51,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NFKBIZ",0.87,160,"同义",13203,"1.00=75/75","位于基因组单拷贝区域+DNA结构正常",64332,"3p12-q12","NM_001005474.2"]
["12309A(99)v11703",28,28,1,"12309A","NHSL2","chrX:71363415","c.3669C>T(E8)","p.1223,P>P","rs6624597",null,1,1,1,0.89,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"NHSL2",0.92,54,"同义",13303,"0.98=49/50","位于基因组单拷贝区域+DNA结构正常",340527,"Xq13.1","NM_001013627.2"]
["12309A(99)v9193",55,55,1,"12309A","NIPAL4","chr5:156898690","c.637A>G(E5)","p.213,R>G","rs6860507",0.5,0.73,0.75,0.7,0.7,0.74,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病6型/鱼鳞病,鳞蛋白相关","AR",612281,5,1,3,1,"NIPAL4",0.94,90,"错义",12220,"1.00=98/98","位于基因组单拷贝区域+DNA结构正常",348938,"5q33.3","NM_001099287.1"]
["12309A(99)v14374",17,17,1,"12309A","NLRC5","chr16:57068106","c.2570A>G(E12)","p.857,H>R","rs3995818",0.19,0.59,0.56,0.63,0.54,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"NLRC5",1,57,"错义",12210,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",84166,"16q13","NM_032206.4"]
["12309A(99)v26968",30,8,0.27,"12309A","NLRP1","chr17:5487164","c.114C>G(E1)","p.38,S>S","rs884367",0.28,0.69,0.69,0.68,0.59,0.69,"杂合","无关","有rs号，MAF>=5%",null,"角膜上皮角化不良和外胚层发育不良","AD",615225,5,1,1,2,"NLRP1",1,80,"同义",13203,"0.36=17/47","位于基因组单拷贝区域+DNA结构正常",22861,"17p13.2","NM_001033053.2"]
["12309A(99)v26810",22,22,1,"12309A","NLRP4","chr19:56393051","m.3505T>C(E10)","非编码区","rs302457",0.81,0.86,0.83,0.89,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"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"]
["12309A(99)v562",168,168,1,"12309A","NME8","chr7:37936530","c.1603T>C(E17)","p.535,L>L","rs3213975",0.21,0.25,0.23,0.28,0.28,0.23,"纯合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍6型（伴或不伴内脏异位）","AR",610852,5,1,5,1,"NME8",1,290,"同义",13203,"1.00=302/302","位于基因组单拷贝区域+DNA结构正常",51314,"7p14.1","NM_016616.4"]
["12309A(99)v6438",63,29,0.46,"12309A","NOD1","chr7:30496382","c.156G>C(E4)","p.52,A>A","rs2075818",0.37,0.32,0.34,0.31,0.33,0.35,"杂合","无关","有rs号，MAF>=5%","19327158;21745515;22563200",{"$nulls":3},5,null,4,0,"NOD1",0.93,73,"同义",13203,"0.46=47/103","位于基因组单拷贝区域+DNA结构正常",10392,"7p15-p14","NM_006092.2"]
["12309A(99)v6952",7,5,0.71,"12309A","NOS3","chr7:150704250","c.1998C>G(E17)","p.666,A>A","rs2566514",0.43,0.4,0.39,0.41,0.33,0.36,"杂合","无关","有rs号，MAF>=5%",17601350,"子痫前期/子痫1型","AD",189800,5,1,3,4,"NOS3",0.94,24,"同义",13203,"0.67=6/9","位于基因组单拷贝区域+DNA结构正常",4846,"7q36","NM_000603.4"]
["12309A(99)v7837",2,2,1,"12309A","NOTCH3","chr19:15292437","c.2742T>C(E17)","p.914,P>P","rs1043997",0.74,0.82,0.86,0.79,0.65,0.8,"纯合","无关","有rs号，MAF>=5%",22006983,"常显遗传脑动脉病及动脉硬化伴皮质下梗死及白质脑病","AD",125310,5,1,11,2,"NOTCH3",0.87,17,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",4854,"19p13.2-p13.1","NM_000435.2"]
["12309A(99)v25934",36,36,1,"12309A","NPAS2","chr2:101584895","IVS11+5C>T","剪切位点","rs2289950",0.3,0.46,0.48,0.43,null,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NPAS2",1,140,"剪切位点",16202,"1.00=55/55","位于基因组单拷贝区域+DNA结构正常",4862,"2q11.2","NM_002518.3"]
["12309A(99)v30066",160,80,0.5,"12309A","NPEPPS","chr17:45695832","IVS20+9C>T","非编码区","rs3760370",0.46,0.54,0.53,0.55,null,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NPEPPS",1,290,"非编码区",16203,"0.52=134/259","位于基因组单拷贝区域+DNA结构正常",9520,"17q21","NM_006310.3"]
["12309A(99)v11720",155,155,1,"12309A","NPVF","chr7:25267963","c.96G>C(E1)","p.32,I>M","rs886354",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NPVF",1,220,"错义",12230,"1.00=280/280","位于基因组单拷贝区域+DNA结构正常",64111,"7p21-p15","NM_022150.3"]
["12309A(99)v25826",6,5,0.83,"12309A","NR2F2","chr15:96876611","m.43T>A(E1)","非编码区","rs7173047",0.4,0.6,0.6,0.59,null,null,"杂合","无关","有rs号，MAF>=5%",null,"先天性心脏缺陷4，多种类型","AD",615779,5,1,2,1,"NR2F2",1,70,"非编码区",14200,"0.82=9/11","位于基因组单拷贝区域+DNA结构正常",7026,"15q26","NM_001145157.1"]
["12309A(99)v19703",139,139,1,"12309A","NRD1","chr1:52290984","c.1011T>G(E6)","p.337,G>G","rs11205896",0.5,0.81,0.82,0.79,0.79,0.83,"纯合","无关","有rs号，MAF>=5%",15986317,{"$nulls":3},5,null,3,0,"NRD1",1,270,"同义",13203,"1.00=255/256","位于基因组单拷贝区域+DNA结构正常",4898,"1p32.2-p32.1","NM_001101662.1"]
["12309A(99)v17779",9,3,0.33,"12309A","NRXN1","chr2:51254937","c.475G>A(E2)","p.159,P>S",{"$nulls":5},0.0022,0.00063,"杂合","可能相关","蛋白结构预测结果为有害",null,"染色体2q16.3缺失综合征/精神分裂症（易感）17型",null,614332,2,2,3,2,"NRXN1",0.95,150,"错义",12410,"0.22=4/18","位于基因组单拷贝区域+DNA结构正常",9378,"2p16.3","NM_001135659.1"]
["12309A(99)v25097",80,77,0.96,"12309A","NSD1","chr5:176637240","c.1840G>T(E5)","p.614,V>L","rs3733875",0.23,0.54,0.51,0.57,0.51,0.51,"纯合","无关","有rs号，MAF>=5%",18001468,"急性髓性白血病","AD",601626,5,1,4,3,"NSD1",1,160,"错义",12220,"0.98=123/126","位于基因组单拷贝区域+DNA结构正常",64324,"5q35","NM_022455.4"]
["12309A(99)v17471",5,1,0.2,"12309A","NT5E","chr6:86203963","m.2372C>T(E8)","非编码区","rs6913634",0.12,0.05,0.052,0.049,null,null,"杂合","无关","有rs号，MAF>=5%",null,"动脉和关节钙化","AR",211800,5,3,3,1,"NT5E",1,210,"非编码区",14200,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",4907,"6q14-q21","NM_001204813.1"]
["12309A(99)v20100",8,4,0.5,"12309A","NUBP2","chr16:1838640","c.741T>C(E7)","p.247,P>P","rs344359",0.82,0.72,0.74,0.7,0.66,0.75,"杂合","无关","有rs号，MAF>=5%",18791227,{"$nulls":3},5,null,2,0,"NUBP2",0.98,11,"同义",13203,"0.45=5/11","位于基因组单拷贝区域+DNA结构正常",10101,"16p13.3","NM_012225.2"]
["12309A(99)v11667",132,71,0.54,"12309A","NUP205","chr7:135292098","c.3174G>A(E22)","p.1058,Q>Q","rs61734151",0.11,0.06,0.048,0.073,0.096,0.09,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NUP205",1,240,"同义",13203,"0.54=112/208","位于基因组单拷贝区域+DNA结构正常",23165,"7q33","NM_015135.2"]
["12309A(99)v7882",23,23,1,"12309A","NUP62","chr19:50411742","c.1323A>G(E2)","p.441,D>D","rs892028",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"婴幼儿纹状体退化","AR",271930,5,1,7,1,"NUP62",1,31,"同义",13203,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",23636,"19q13.33","NM_001193357.1"]
["12309A(99)v15210",3,1,0.33,"12309A","OAF","chr11:120099726","c.697C>A(E4)","p.233,H>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,1,0,"OAF",0.84,11,"错义",12420,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",220323,"11q23.3","NM_178507.2"]
["12309A(99)v29219",28,14,0.5,"12309A","OBSCN","chr1:228476366","c.10116G>T(E38)","p.3372,E>D","rs3795789",0.096,0.36,0.37,0.34,0.31,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,35,0,"OBSCN",0.96,24,"错义",12220,"0.47=17/36","位于基因组多拷贝区域+DNA结构正常",84033,"1q42.13","NM_001098623.2"]
["12309A(99)v1999",29,11,0.38,"12309A","OBSL1","chr2:220432014","c.1818G>A(E4)","p.606,F>F","rs61732787",0.17,0.14,0.15,0.12,0.13,0.14,"杂合","无关","有rs号，MAF>=5%",null,"3-M高椎体骨发育不全综合征2型",null,612921,5,2,12,1,"OBSL1",0.75,25,"同义",13203,"0.43=18/42","位于基因组单拷贝区域+DNA结构正常",23363,"2q35","NM_001173408.1"]
["12309A(99)v23794",173,173,1,"12309A","OCA2","chr15:28231793","IVS11-4T>C","剪切位点","rs10852218",0.69,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"皮肤/头发/眼睛色素沉着1型","AR",227220,5,1,6,2,"OCA2",1,150,"剪切位点",16202,"1.00=313/313","位于基因组单拷贝区域+DNA结构正常",4948,"15q","NM_000275.2"]
["12309A(99)v962",12,12,1,"12309A","OLFML2A","chr9:127572710","m.2091C>G(E8)","非编码区","rs7020260",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OLFML2A",0.95,44,"非编码区",14200,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",169611,"9q33.3","NM_182487.2"]
["12309A(99)v17018",3,1,0.33,"12309A","OPA3","chr19:46057081","c.231A>G(E2)","p.77,A>A","rs3826860",0.77,0.9,0.93,0.87,0.68,0.88,"杂合","无关","有rs号，MAF>=5%",null,"视神经萎缩3型","AD",165300,5,1,1,2,"OPA3",0.74,9.3,"同义",13203,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",80207,"19q13.32","NM_025136.3"]
["12309A(99)v4599",18,8,0.44,"12309A","OPN4","chr10:88414570","c.30G>A(E1)","p.10,P>P","rs11202106",0.24,0.28,0.32,0.24,0.2,0.26,"杂合","无关","有rs号，MAF>=5%",18804284,{"$nulls":3},5,null,3,0,"OPN4",1,46,"同义",13203,"0.41=11/27","位于基因组单拷贝区域+DNA结构正常",94233,"10q22","NM_001030015.2"]
["12309A(99)v2555",69,69,1,"12309A","OR10H5","chr19:15905431","c.573T>C(E1)","p.191,D>D","rs4808381",0.46,0.79,0.8,0.78,0.75,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR10H5",1,120,"同义",13203,"1.00=118/118","位于基因组多拷贝区域+DNA结构正常",284433,"19p13.12","NM_001004466.1"]
["12309A(99)v21383",19,19,1,"12309A","OR10P1","chr12:56031611","c.936A>G(E1)","p.312,S>S","rs11171631",0.23,0.57,0.56,0.59,0.5,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR10P1",1,40,"同义",13203,"1.00=27/27","位于基因组单拷贝区域+DNA结构正常",121130,"12q13.2","NM_206899.1"]
["12309A(99)v25796",143,57,0.4,"12309A","OR13C5","chr9:107361346","c.349C>T(E1)","p.117,V>M","rs2417534",{"$nulls":4},0.53,0.43,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,14,0,"OR13C5",1,240,"错义",12320,"0.36=72/199","位于基因组多拷贝区域+DNA结构正常",138799,"9q31.1","NM_001004482.1"]
["12309A(99)v12512",103,103,1,"12309A","OR14A16","chr1:247978319","c.713A>G(E1)","p.238,I>T","rs6695283",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR14A16",1,140,"错义",12220,"0.99=182/183","位于基因组单拷贝区域+DNA结构正常",284532,"1q44","NM_001001966.1"]
["12309A(99)v12265",88,88,1,"12309A","OR1L6","chr9:125512826","c.700G>A(E1)","p.234,G>R","rs28670025",0.87,0.93,0.94,0.92,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"OR1L6",1,170,"错义",12210,"1.00=135/135","位于基因组多拷贝区域+DNA结构正常",392390,"9q33.2","NM_001004453.2"]
["12309A(99)v7540",134,55,0.41,"12309A","OR1S1","chr11:57983162","c.946A>G(E1)","p.316,K>E","rs7103026",0.14,0.062,0.057,0.068,0.066,0.062,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"OR1S1",1,230,"错义",12220,"0.41=81/200","位于基因组多拷贝区域+DNA结构正常",219959,"11q12.1","NM_001004458.1"]
["12309A(99)v93",60,60,1,"12309A","OR2K2","chr9:114090279","c.435A>G(E1)","p.145,A>A","rs314452",0.49,0.51,0.53,0.48,0.48,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR2K2",1,120,"同义",13203,"1.00=98/98","位于基因组单拷贝区域+DNA结构正常",26248,"9q31.3","NM_205859.1"]
["12309A(99)v21339",128,67,0.52,"12309A","OR2M7","chr1:248487016","c.855C>T(E1)","p.285,L>L","rs4451579",0.21,0.39,0.4,0.38,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR2M7",1,330,"同义",13203,"0.46=89/192","位于基因组多拷贝区域+DNA结构正常",391196,"1q44","NM_001004691.1"]
["12309A(99)v4066",154,65,0.42,"12309A","OR2T33","chr1:248436809","c.308G>A(E1)","p.103,P>L","rs61832700",{"$nulls":4},0.33,0.37,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"OR2T33",1,310,"错义",12320,"0.49=113/231","位于基因组多拷贝区域+DNA结构正常",391195,"1q44","NM_001004695.1"]
["12309A(99)v14883",200,174,0.87,"12309A","OR2T8","chr1:248084434","c.115G>A(E1)","p.39,G>S","rs11204563",0.46,0.36,0.42,0.31,0.35,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"OR2T8",1,210,"错义",12210,"0.88=286/325","位于基因组多拷贝区域+DNA结构正常",343172,"1q44","NM_001005522.1"]
["12309A(99)v22402",116,70,0.6,"12309A","OR3A3","chr17:3324086","c.225G>A(E1)","p.75,L>L","rs227788",0.98,1,0.99,1,0.52,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR3A3",1,140,"同义",13203,"0.61=109/179","位于基因组多拷贝区域+DNA结构正常",8392,"17p13.3","NM_012373.2"]
["12309A(99)v3674",82,38,0.46,"12309A","OR4L1","chr14:20528505","c.302T>A(E1)","p.101,M>K","rs2775253",0.43,0.56,0.59,0.52,0.5,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"OR4L1",1,130,"错义",12210,"0.45=59/130","位于基因组单拷贝区域+DNA结构正常",122742,"14q11.2","NM_001004717.1"]
["12309A(99)v13134",160,74,0.46,"12309A","OR4N4","chr15:22382655","c.183A>C(E1)","p.61,L>F","rs535034",{"$nulls":4},0.19,0.18,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"OR4N4",1,160,"错义",12320,"0.42=109/259","位于基因组多拷贝区域+DNA结构正常",283694,"15q11.2","NM_001005241.2"]
["12309A(99)v26950",91,91,1,"12309A","OR51E2","chr11:4703165","c.777C>A(E2)","p.259,V>V","rs1123991",0.75,0.83,0.83,0.83,0.76,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR51E2",1,120,"同义",13203,"1.00=143/143","位于基因组单拷贝区域+DNA结构正常",81285,"11p15","NM_030774.3"]
["12309A(99)v28113",67,33,0.49,"12309A","OR52E4","chr11:5906073","c.551G>T(E1)","p.184,R>M","rs4757986",0.78,0.85,0.85,0.85,0.81,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR52E4",1,150,"错义",12220,"0.48=44/91","位于基因组单拷贝区域+DNA结构正常",390081,"11p15.4","NM_001005165.1"]
["12309A(99)v23419",78,77,0.99,"12309A","OR52N2","chr11:5842356","c.791A>G(E1)","p.264,H>R","rs8181512",0.45,0.44,0.44,0.45,0.43,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR52N2",1,130,"错义",12210,"0.99=123/124","位于基因组多拷贝区域+DNA结构正常",390077,"11p15.4","NM_001005174.1"]
["12309A(99)v30733",90,38,0.42,"12309A","OR5B3","chr11:58170342","c.541C>T(E1)","p.181,A>T","rs11229411",0.29,0.16,0.15,0.18,0.18,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"OR5B3",1,150,"错义",12210,"0.41=59/143","位于基因组多拷贝区域+DNA结构正常",441608,"11q12.1","NM_001005469.1"]
["12309A(99)v1722",61,61,1,"12309A","OR5W2","chr11:55681494","c.565G>A(E1)","p.189,R>C","rs2457239",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR5W2",1,170,"错义",12220,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",390148,"11q11","NM_001001960.1"]
["12309A(99)v20167",84,44,0.52,"12309A","OR6C70","chr12:55863537","c.386C>T(E1)","p.129,R>H","rs58920821",0.017,0.1,0.071,0.14,0.09,0.09,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"OR6C70",1,110,"错义",12120,"0.50=69/138","位于基因组单拷贝区域+DNA结构正常",390327,"12q13.2","NM_001005499.1"]
["12309A(99)v27134",63,63,1,"12309A","OR6N1","chr1:158735691","c.782T>C(E1)","p.261,Q>R","rs857825",0.67,0.6,0.55,0.64,0.62,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR6N1",1,100,"错义",12220,"1.00=96/96","位于基因组单拷贝区域+DNA结构正常",128372,"1q23.1","NM_001005185.1"]
["12309A(99)v26381",123,122,0.99,"12309A","OR8B8","chr11:124310622","c.360A>G(E1)","p.120,Y>Y","rs4296049",0.25,0.53,0.54,0.52,0.52,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR8B8",1,180,"同义",13203,"0.99=185/186","位于基因组多拷贝区域+DNA结构正常",26493,"11q24.2","NM_012378.1"]
["12309A(99)v15674",59,59,1,"12309A","OR8S1","chr12:48919556","c.142A>G(E1)","p.48,M>V","rs2731073",0.92,0.97,0.97,0.97,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR8S1",1,82,"错义",12220,"1.00=101/101","位于基因组单拷贝区域+DNA结构正常",341568,"12q13.11","NM_001005203.2"]
["12309A(99)v7242",2,2,1,"12309A","ORAI2","chr7:102094535","m.8036C>G(E4)","非编码区","rs9632724",0.95,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ORAI2",0.99,11,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",80228,"7q22.1","NM_001126340.1"]
["12309A(99)v9468",120,54,0.45,"12309A","OSBPL3","chr7:24911357","IVS4+4T>G","剪切位点","rs6952815",0.12,0.094,0.086,0.1,0.08,0.071,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OSBPL3",1,220,"剪切位点",16201,"0.42=83/199","位于基因组单拷贝区域+DNA结构正常",26031,"7p15","NM_015550.2"]
["12309A(99)v7052",149,149,1,"12309A","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",614944,5,1,10,1,"OTOGL",0.99,250,"错义",12220,"1.00=258/258","位于基因组单拷贝区域+DNA结构正常",283310,"12q21.31","NM_173591.3"]
["12309A(99)v8671",142,61,0.43,"12309A","OTUD3","chr1:20233051","c.962A>G(E7)","p.321,N>S","rs2298110",0.032,0.029,0.029,0.029,0.04,0.027,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"OTUD3",0.82,120,"错义",12120,"0.42=100/236","位于基因组单拷贝区域+DNA结构正常",23252,"1p36.13","NM_015207.1"]
["12309A(99)v23433",235,235,1,"12309A","OVOS2","chr12:31285169","IVS21+10A>T","非编码区","rs2287449",0.63,0.52,0.53,0.5,null,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"OVOS2",1,300,"非编码区",16203,"1.00=412/412","位于基因组多拷贝区域+DNA结构正常",144203,"12p11.21","XM_002343151.4"]
["12309A(99)v2777",117,51,0.44,"12309A","PAAF1","chr11:73620537","c.575C>G(E8)","p.192,A>G","rs3741138",0.12,0.2,0.19,0.22,0.21,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PAAF1",1,210,"错义",12220,"0.43=85/196","位于基因组单拷贝区域+DNA结构正常",80227,"11q13.4","NM_001267803.1"]
["12309A(99)v20122",43,24,0.56,"12309A","PADI3","chr1:17609448","c.1869G>T(E16)","p.623,P>P","rs2293920",0.4,0.65,0.63,0.66,0.58,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PADI3",1,80,"同义",13203,"0.61=42/69","位于基因组多拷贝区域+DNA结构正常",51702,"1p36.13","NM_016233.2"]
["12309A(99)v8470",57,25,0.44,"12309A","PALLD","chr4:169432841","c.186G>A(E2)","p.62,K>K","rs1806729",0.24,0.18,0.14,0.21,0.19,0.18,"杂合","无关","有rs号，MAF>=5%",null,"胰腺癌,易感1型",null,606856,5,2,6,1,"PALLD",0.88,150,"同义",13203,"0.42=34/80","位于基因组单拷贝区域+DNA结构正常",23022,"4q32.3","NM_001166108.1"]
["12309A(99)v2400",47,23,0.49,"12309A","PAPD7","chr5:6748659","c.792T>C(E8)","p.264,A>A","rs274681",0.56,0.58,0.58,0.58,0.61,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PAPD7",1,140,"同义",13203,"0.51=45/89","位于基因组单拷贝区域+DNA结构正常",11044,"5p15","NM_001171805.1"]
["12309A(99)v21521",150,150,1,"12309A","PARP2","chr14:20824181","c.1092T>C(E11)","p.364,Y>Y","rs3093930",0.51,0.62,0.57,0.68,0.65,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PARP2",1,240,"同义",13203,"1.00=236/236","位于基因组单拷贝区域+DNA结构正常",10038,"14q11.2-q12","NM_001042618.1"]
["12309A(99)v17493",65,64,0.98,"12309A","PARP4","chr13:25009099","c.4180A>C(E31)","p.1394,S>A","rs9511259",0.95,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,24,0,"PARP4",1,210,"错义",12220,"0.99=87/88","位于基因组多拷贝区域+DNA结构正常",143,"13q11","NM_006437.3"]
["12309A(99)v25616",6,6,1,"12309A","PAX2","chr10:102506070","IVS1+10G>C","非编码区","rs4472867",0.85,1,1,0.99,0.9,1,"纯合","无关","有rs号，MAF>=5%",null,"Papillorenal综合征","AD",120330,5,1,1,3,"PAX2",1,73,"非编码区",16203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",5076,"10q24","NM_000278.3"]
["12309A(99)v21670",120,43,0.36,"12309A","PBOV1","chr6:138539183-138539184","c.350(E1)至c.349(E1):插入G","插入移码","rs397886596",0.16,0.38,0.34,0.42,0.1,0.36,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,3,0,"PBOV1",1,150,"插入移码",2120,"0.35=46/130","位于基因组单拷贝区域+DNA结构正常",59351,"6q23.3","NM_021635.2"]
["12309A(99)v25435",1,1,1,"12309A","PCDH15","chr10:55564846","m.6937C>T(E36)","非编码区","rs11003862",0.47,0.96,0.96,0.95,null,null,"纯合","无关","有rs号，MAF>=5%",null,"尤塞氏综合症ID型","AR",601067,5,1,6,3,"PCDH15",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",65217,"10q21.1","NM_001142771.1"]
["12309A(99)v409",66,36,0.55,"12309A","PCDHA3","chr5:140391475","m.4806A>G(E4)","非编码区","rs7701616",0.059,0.067,0.081,0.053,0.079,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PCDHA3",1,90,"非编码区",14200,"0.54=59/109","位于基因组单拷贝区域+DNA结构正常",56145,"5q31","NM_018906.2"]
["12309A(99)v6701",4,4,1,"12309A","PCDHB10","chr5:140573754","c.1629A>C(E1)","p.543,R>S","rs702386",{"$nulls":4},0.5,0.56,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"PCDHB10",0.98,110,"错义",12320,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",56126,"5q31","NM_018930.3"]
["12309A(99)v15975",22,9,0.41,"12309A","PCDHB15","chr5:140626571","c.1425C>A(E1)","p.475,A>A","rs652104",0.25,0.52,0.52,0.52,0.44,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PCDHB15",1,73,"同义",13203,"0.39=12/31","位于基因组多拷贝区域+DNA结构正常",56121,"5q31","NM_018935.2"]
["12309A(99)v30886",58,30,0.52,"12309A","PCDHB3","chr5:140480355","c.122A>G(E1)","p.41,K>R","rs31849",0.097,0.072,0.081,0.063,0.092,0.074,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"PCDHB3",1,110,"错义",12220,"0.54=46/85","位于基因组单拷贝区域+DNA结构正常",56132,"5q31","NM_018937.2"]
["12309A(99)v13589",63,63,1,"12309A","PCDHGA9","chr5:140783596","c.1077C>T(E1)","p.359,D>D","rs1363448",0.54,0.32,0.31,0.33,0.36,0.33,"纯合","无关","有rs号，MAF>=5%",16532397,{"$nulls":3},5,null,2,0,"PCDHGA9",1,70,"同义",13203,"1.00=84/84","位于基因组单拷贝区域+DNA结构正常",56107,"5q31","NM_018921.2"]
["12309A(99)v3397",75,75,1,"12309A","PCDHGB3","chr5:140751128","c.1167C>G(E1)","p.389,N>K","rs2240697",0.56,0.32,0.31,0.33,0.36,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PCDHGB3",1,64,"错义",12220,"1.00=118/118","位于基因组单拷贝区域+DNA结构正常",56102,"5q31","NM_018924.2"]
["12309A(99)v15874",63,63,1,"12309A","PCNT","chr21:47786817","c.2928C>G(E15)","p.976,L>L","rs2839228",0.84,0.82,0.85,0.79,0.76,0.81,"纯合","无关","有rs号，MAF>=5%",null,"小头骨性增生异常侏儒症2型","AR",210720,5,1,12,1,"PCNT",0.98,82,"同义",13203,"1.00=121/121","位于基因组单拷贝区域+DNA结构正常",5116,"21q22.3","NM_006031.5"]
["12309A(99)v16877",46,46,1,"12309A","PCSK6","chr15:101905084","m.2336G>A(E14)","非编码区","rs4965833",0.42,0.59,0.6,0.58,null,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PCSK6",0.94,98,"非编码区",14200,"1.00=60/60","位于基因组多拷贝区域+DNA结构正常",5046,"15q26.3","NM_138325.2"]
["12309A(99)v79",137,137,1,"12309A","PDCL3","chr2:101186088","c.273C>T(E4)","p.91,F>F","rs1052117",0.65,0.98,0.98,0.99,0.94,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PDCL3",1,160,"同义",13203,"1.00=218/219","位于基因组单拷贝区域+DNA结构正常",79031,"2q11.2","NM_024065.4"]
["12309A(99)v181",58,29,0.5,"12309A","PDE1C","chr7:31855569","c.1782G>A(E15)","p.594,A>A","rs2302450",0.23,0.17,0.17,0.18,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PDE1C",0.78,160,"同义",13203,"0.48=45/94","位于基因组单拷贝区域+DNA结构正常",5137,"7p14.3","NM_001191056.1"]
["12309A(99)v19059",149,78,0.52,"12309A","PDE4DIP","chr1:144873887","c.4938C>T(E34)","p.1646,Q>Q","rs1699787",{"$nulls":4},0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,68,0,"PDE4DIP",0.99,230,"同义",13303,"0.55=124/227","位于基因组多拷贝区域+DNA结构正常",9659,"1q12","NM_001198832.1"]
["12309A(99)v19085",95,20,0.21,"12309A","PDE4DIP","chr1:144866688","c.5236G>A(E36)","p.1746,R>W","rs1698597",0.071,0.15,0.16,0.14,0.1,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,68,0,"PDE4DIP",0.99,230,"错义",12210,"0.19=26/136","位于基因组多拷贝区域+DNA结构正常",9659,"1q12","NM_001198832.1"]
["12309A(99)v31232",187,187,1,"12309A","PDE8B","chr5:76708987","c.1473A>G(E14)","p.491,E>E","rs335614",0.77,0.81,0.81,0.82,0.79,0.82,"纯合","无关","有rs号，MAF>=5%",null,"原发性色素性结节状肾上腺皮质病3型",null,614190,5,1,3,2,"PDE8B",0.87,180,"同义",13203,"1.00=308/308","位于基因组单拷贝区域+DNA结构正常",8622,"5q13.3","NM_001029851.2"]
["12309A(99)v2222",50,26,0.52,"12309A","PDLIM1","chr10:96997589","m.1192A>G(E7)","非编码区","rs1049961",0.27,0.1,0.11,0.097,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PDLIM1",1,120,"非编码区",14200,"0.53=38/72","位于基因组多拷贝区域+DNA结构正常",9124,"10q23.1","NM_020992.2"]
["12309A(99)v6114",8,8,1,"12309A","PDPN","chr1:13910417","c.117C>T(E1)","p.39,P>P","rs355025",0.56,0.68,0.7,0.65,0.64,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PDPN",1,110,"同义",13203,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",10630,"1p36.21","NM_006474.4"]
["12309A(99)v5101",14,6,0.43,"12309A","PEAK1","chr15:77406396","m.5919C>T(E8)","非编码区","rs3743479",0.52,0.37,0.36,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PEAK1",1,110,"非编码区",14200,"0.38=9/24","位于基因组单拷贝区域+DNA结构正常",79834,"15q24.3","NM_024776.3"]
["12309A(99)v5677",210,82,0.39,"12309A","PELI1","chr2:64327544","c.291G>T(E4)","p.97,T>T","rs329498",0.36,0.72,0.76,0.68,0.69,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PELI1",1,190,"同义",13203,"0.37=132/358","位于基因组单拷贝区域+DNA结构正常",57162,"2p13.3","NM_020651.3"]
["12309A(99)v10273",56,56,1,"12309A","PFAS","chr17:8159232","IVS6+4A>G","剪切位点","rs7221716",0.78,0.71,0.7,0.72,null,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PFAS",1,56,"剪切位点",16201,"1.00=95/95","位于基因组单拷贝区域+DNA结构正常",5198,"17p13.1","NM_012393.2"]
["12309A(99)v9170",12,6,0.5,"12309A","PFKL","chr21:45736124","IVS7-3C>T","剪切位点","rs138551656",0.0022,0.022,0.024,0.019,0.0093,0.011,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,2,0,"PFKL",0.96,29,"剪切位点",16102,"0.42=10/24","位于基因组单拷贝区域+DNA结构正常",5211,"21q22.3","NM_002626.4"]
["12309A(99)v10833",139,64,0.46,"12309A","PHACTR2","chr6:144081609","c.526C>T(E5)","p.176,P>S","rs2073214",0.2,0.14,0.14,0.13,0.13,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PHACTR2",1,200,"错义",12220,"0.44=102/231","位于基因组单拷贝区域+DNA结构正常",9749,"6q24.2","NM_001100164.1"]
["12309A(99)v18110",223,2,0.01,"12309A","PHAX","chr5:125960306-125960306","c.955(E5):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,3,0,"PHAX",1,200,"缺失移码",2140,"0.01=2/252","位于基因组单拷贝区域+简单重复结构",51808,"5q23.2","NM_032177.3"]
["12309A(99)v14141",147,147,1,"12309A","PHIP","chr6:79708000","c.1988A>C(E18)","p.663,V>G","rs7747479",0.94,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PHIP",0.99,260,"错义",12230,"1.00=275/275","位于基因组单拷贝区域+DNA结构正常",55023,"6q14","NM_017934.5"]
["12309A(99)v11056",184,182,0.99,"12309A","PI4K2B","chr4:25253995","c.321C>T(E2)","p.107,A>A","rs313567",0.79,0.69,0.69,0.69,0.71,0.7,"纯合","无关","有rs号，MAF>=5%",19539307,{"$nulls":3},5,null,2,0,"PI4K2B",0.84,220,"同义",13203,"0.99=363/368","位于基因组单拷贝区域+DNA结构正常",55300,"4p15.2","NM_018323.3"]
["12309A(99)v26534",7,1,0.14,"12309A","PID1","chr2:230135753","c.7G>A(E1)","p.3,Q>X",{"$nulls":7},"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,2,0,"PID1",1,110,"截断",15400,"0.17=2/12","位于基因组单拷贝区域+DNA结构正常",55022,"2q36.3","NM_001100818.1"]
["12309A(99)v1290",41,21,0.51,"12309A","PIGG","chr4:517376","c.1743T>C(E9)","p.581,L>L","rs7666226",0.22,0.21,0.19,0.23,0.19,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PIGG",0.98,120,"同义",13203,"0.63=41/65","位于基因组单拷贝区域+DNA结构正常",54872,"4p16.3","NM_001127178.1"]
["12309A(99)v12553",12,12,1,"12309A","PIGZ","chr3:196674749","c.1019C>T(E3)","p.340,R>Q","rs4916589",0.63,0.78,0.8,0.76,0.77,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PIGZ",1,44,"错义",12220,"1.00=17/17","位于基因组单拷贝区域+DNA结构正常",80235,"3q29","NM_025163.2"]
["12309A(99)v3299",191,92,0.48,"12309A","PIK3R1","chr5:67522722","c.219C>T(E2)","p.73,Y>Y","rs706713",0.42,0.74,0.71,0.77,0.73,0.7,"杂合","无关","有rs号，MAF>=5%","17016694;17214991;18335044","无丙种球蛋白血症7型","AR",615214,5,3,3,3,"PIK3R1",1,270,"同义",13203,"0.44=129/293","位于基因组单拷贝区域+DNA结构正常",5295,"5q13.1","NM_181523.2"]
["12309A(99)v8366",172,67,0.39,"12309A","PIKFYVE","chr2:209184999","c.2106C>T(E17)","p.702,P>P","rs10932259",0.91,0.93,0.93,0.93,0.9,0.94,"杂合","无关","有rs号，MAF>=5%",null,"Fleck角膜营养不良","AD",121850,5,1,12,1,"PIKFYVE",1,240,"同义",13203,"0.34=100/296","位于基因组单拷贝区域+DNA结构正常",200576,"2q34","NM_015040.3"]
["12309A(99)v7445",3,3,1,"12309A","PITX3","chr10:103991381","c.285G>A(E3)","p.95,I>I","rs2281983",0.66,0.78,0.76,0.8,0.69,0.78,"纯合","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",0.99,4.6,"同义",13203,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",5309,"10q24.32","NM_005029.3"]
["12309A(99)v5049",11,9,0.82,"12309A","PKD1L2","chr16:81173193","c.5542C>T(E32)","p.1848,G>R","rs4889244",0.42,0.31,0.37,0.24,0.25,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,39,0,"PKD1L2",1,93,"错义",12210,"0.87=13/15","位于基因组单拷贝区域+DNA结构正常",114780,"16q23.2","NM_052892.3"]
["12309A(99)v24674",64,31,0.48,"12309A","PKHD1","chr6:51890823","c.3785G>A(E32)","p.1262,A>V","rs9296669",0.35,0.41,0.45,0.37,0.28,0.36,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性多囊性肾病(婴儿型)","AR",263200,5,3,10,1,"PKHD1",1,190,"错义",12220,"0.48=47/97","位于基因组单拷贝区域+DNA结构正常",5314,"6p12.2","NM_138694.3"]
["12309A(99)v18865",224,108,0.48,"12309A","PKHD1L1","chr8:110505886","IVS62-4C>T","剪切位点","rs2607628",0.43,0.37,0.37,0.36,0.34,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"PKHD1L1",1,270,"剪切位点",16202,"0.51=206/404","位于基因组单拷贝区域+DNA结构正常",93035,"8q23","NM_177531.4"]
["12309A(99)v22073",169,88,0.52,"12309A","PKN2","chr1:89271574","c.1677T>C(E12)","p.559,S>S","rs786906",0.51,0.47,0.48,0.47,0.48,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PKN2",1,280,"剪切位点",13202,"0.52=143/275","位于基因组单拷贝区域+DNA结构正常",5586,"1p22.2","NM_006256.2"]
["12309A(99)v1338",65,65,1,"12309A","PLA2G4C","chr19:48598823","c.637A>G(E7)","p.213,S>P","rs156631",0.63,0.85,0.85,0.86,0.84,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PLA2G4C",1,150,"错义",12220,"1.00=108/108","位于基因组单拷贝区域+DNA结构正常",8605,"19q13.3","NM_001159322.1"]
["12309A(99)v6808",219,99,0.45,"12309A","PLBD1","chr12:14656768","c.1600G>C(E11)","p.534,P>A","rs1600",0.51,0.39,0.39,0.39,0.4,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PLBD1",0.93,200,"错义",12210,"0.48=188/393","位于基因组单拷贝区域+DNA结构正常",79887,"12p13.1","NM_024829.5"]
["12309A(99)v24653",206,112,0.54,"12309A","PLD1","chr3:171395468","c.1770A>G(E16)","p.590,R>R","rs2124147",0.46,0.3,0.29,0.31,0.3,0.35,"杂合","无关","有rs号，MAF>=5%",20066028,{"$nulls":3},5,null,6,0,"PLD1",1,280,"同义",13203,"0.55=196/357","位于基因组单拷贝区域+DNA结构正常",5337,"3q26","NM_001130081.2"]
["12309A(99)v6854",25,1,0.04,"12309A","PLEC","chr8:145011203","c.460C>T(E6)","p.154,D>N",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"单纯性大疱性表皮松解症,奥格纳（氏）变型","AD",131950,2,1,5,4,"PLEC",0.8,9.5,"错义",12410,"0.11=4/37","位于基因组单拷贝区域+DNA结构正常",5339,"8q24","NM_000445.3"]
["12309A(99)v8654",118,2,0.02,"12309A","PLEKHG7","chr12:93147971-93147971","c.421(E6):缺失A","缺失移码",{"$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",{"$nulls":4},1,null,5,0,"PLEKHG7",1,260,"缺失移码",2140,"0.01=2/136","位于基因组单拷贝区域+DNA结构正常",440107,"12q22","NM_001004330.2"]
["12309A(99)v6567",16,1,0.06,"12309A","PLEKHN1","chr1:905771","c.298G>A(E3)","p.100,A>T",{"$nulls":6},0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"PLEKHN1",1,15,"错义",12410,"0.12=3/25","位于基因组单拷贝区域+DNA结构正常",84069,"1p36.33","NM_032129.2"]
["12309A(99)v20223",13,13,1,"12309A","PLIN4","chr19:4508945","c.3495A>G(E4)","p.1165,P>P","rs8105775",1,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,28,0,"PLIN4",0.93,69,"同义",13203,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",729359,"19p13.3","NM_001080400.1"]
["12309A(99)v28259",382,1,0,"12309A","PLSCR2","chr3:146173122-146173122","c.444(E6):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"PLSCR2",0.93,320,"缺失移码",2140,"0.01=4/513","位于基因组多拷贝区域+DNA结构正常",57047,"3q24","NM_001199978.1"]
["12309A(99)v26106",40,40,1,"12309A","PM20D1","chr1:205819104","c.97G>A(E1)","p.33,H>Y","rs11540014",0.16,0.44,0.4,0.47,0.42,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PM20D1",1,130,"错义",12220,"0.98=60/61","位于基因组单拷贝区域+DNA结构正常",148811,"1q32.1","NM_152491.4"]
["12309A(99)v8116",235,128,0.54,"12309A","PMS2","chr7:6013049","c.2570C>G(E15)","p.857,G>A","rs1802683",{"$nulls":4},0.23,0.42,"杂合","未知","蛋白结构预测结果为容忍或无害","16619;10479499;14756672;15256438;16472587;20205264","错配修复肿瘤综合征（Lynch综合征）","AR",276300,3,3,4,2,"PMS2",0.99,220,"错义",12320,"0.50=192/387","位于基因组多拷贝区域+DNA结构正常",5395,"7p22.2","NM_000535.5"]
["12309A(99)v26982",187,87,0.47,"12309A","PNLIPRP3","chr10:118236610","c.1349T>A(E12)","p.450,F>Y","rs2116286",0.15,0.42,0.42,0.41,0.4,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PNLIPRP3",1,350,"错义",12210,"0.46=149/323","位于基因组单拷贝区域+DNA结构正常",119548,"10q25.3","NM_001011709.2"]
["12309A(99)v16464",19,7,0.37,"12309A","PODN","chr1:53547800","c.1896A>G(E12)","p.632,E>E","rs6687909",0.22,0.24,0.22,0.27,0.22,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PODN",0.98,34,"同义",13203,"0.43=12/28","位于基因组单拷贝区域+DNA结构正常",127435,"1p32.3","NM_001199080.1"]
["12309A(99)v19503",6,1,0.17,"12309A","POLD1","chr19:50919007","c.2744C>T(E22)","p.915,A>V",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"结直肠癌（易感）10型","AD",612591,2,1,2,2,"POLD1",1,28,"错义",12410,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",5424,"19q13.3","NM_001256849.1"]
["12309A(99)v19006",78,33,0.42,"12309A","POLR2A","chr17:7399866","c.471G>A(E4)","p.157,G>G","rs2301609",0.17,0.022,0.014,0.029,0.045,0.036,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"POLR2A",1,120,"同义",13203,"0.45=59/132","位于基因组单拷贝区域+DNA结构正常",5430,"17p13.1","NM_000937.4"]
["12309A(99)v29369",106,106,1,"12309A","POLR3C","chr1:145601861","IVS5-9G>A","剪切位点","rs9286837",0.97,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"POLR3C",1,180,"剪切位点",16202,"1.00=181/181","位于基因组单拷贝区域+DNA结构正常",10623,"1q21.1","NM_006468.6"]
["12309A(99)v31194",108,107,0.99,"12309A","POMT2","chr14:77751925","c.1383C>T(E13)","p.461,R>R","rs2270419",0.86,0.96,0.97,0.95,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",null,"肌营养不良-抗肌萎缩相关糖蛋白病（先天性伴有智力低下）B型2","AR",613156,5,1,4,3,"POMT2",0.94,130,"同义",13203,"0.99=182/184","位于基因组单拷贝区域+DNA结构正常",29954,"14q24","NM_013382.5"]
["12309A(99)v21847",59,34,0.58,"12309A","POPDC2","chr3:119378872","c.399G>A(E1)","p.133,C>C","rs1880040",0.4,0.35,0.31,0.39,0.37,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"POPDC2",1,78,"同义",13203,"0.58=53/92","位于基因组单拷贝区域+DNA结构正常",64091,"3q13.33","NM_022135.2"]
["12309A(99)v10543",93,20,0.22,"12309A","POTEF","chr2:130832873","c.2172G>A(E17)","p.724,D>D","rs62165872",0.026,0.017,0.014,0.019,null,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"POTEF",1,310,"同义",13103,"0.25=38/150","位于基因组多拷贝区域+DNA结构正常",728378,"2q21.1","NM_001099771.2"]
["12309A(99)v6402",11,3,0.27,"12309A","PPAN-P2RY11","chr19:10225777","m.2920A>G(E13)","非编码区","rs7401",0.37,0.3,0.29,0.3,0.26,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PPAN-P2RY11",1,37,"非编码区",14200,"0.21=4/19","位于基因组单拷贝区域+DNA结构正常",692312,"19p13","NM_001040664.2"]
["12309A(99)v17404",79,79,1,"12309A","PPFIBP1","chr12:27800746","c.442G>T(E6)","p.148,V>L","rs2194816",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PPFIBP1",1,250,"错义",12230,"1.00=138/138","位于基因组多拷贝区域+DNA结构正常",8496,"12p12.1","NM_001198916.1"]
["12309A(99)v28676",14,6,0.43,"12309A","PPP1CC","chr12:111180454","IVS1+4T>C","剪切位点",{"$nulls":7},"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,2,0,"PPP1CC",0.93,230,"剪切位点",16401,"0.39=7/18","位于基因组单拷贝区域+DNA结构正常",5501,"12q24.1-q24.2","NM_001244974.1"]
["12309A(99)v7279",17,1,0.06,"12309A","PPP1R16B","chr20:37547232","c.1501G>T(E10)","p.501,D>Y",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"PPP1R16B",1,52,"错义",12410,"0.13=4/30","位于基因组单拷贝区域+DNA结构正常",26051,"20q11.23","NM_001172735.1"]
["12309A(99)v14926",141,66,0.47,"12309A","PPYR1","chr10:47086978","c.195G>A(E3)","p.65,V>V","rs3740294",0.17,0.34,0.36,0.32,0.36,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PPYR1",1,180,"同义",13203,"0.51=112/219","位于基因组单拷贝区域+DNA结构正常",5540,"10q11.2","NM_005972.4"]
["12309A(99)v27913",2,2,1,"12309A","PRAM1","chr19:8563456","c.1236C>G(E2)","p.412,A>A","rs2910435",1,1,1,1,0.73,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PRAM1",1,19,"同义",13203,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",84106,"19p13.2","NM_032152.4"]
["12309A(99)v30304",4,4,1,"12309A","PRB1","chr12:11506403","c.634A>G(E3)","p.212,S>P","rs113897264",0.24,0.33,0.32,0.34,0.73,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PRB1",1,96,"错义",12220,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",5542,"12p13.2","NM_005039.3"]
["12309A(99)v337",67,15,0.22,"12309A","PRDM2","chr1:14106394-14106395","c.1501(E3)至c.1502(E3):插入CTC","插入非移码","rs148293494",{"$nulls":4},0.079,0.6,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"PRDM2",1,120,"插入非移码",2232,"0.22=16/72","位于基因组单拷贝区域+DNA结构正常",7799,"1p36.21","NM_001007257.2"]
["12309A(99)v19473",52,22,0.42,"12309A","PREX1","chr20:47258763","c.3718C>T(E29)","p.1240,V>I","rs16993997",0.15,0.15,0.16,0.15,0.12,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"PREX1",0.97,65,"错义",12220,"0.43=32/75","位于基因组单拷贝区域+DNA结构正常",57580,"20q13.13","NM_020820.3"]
["12309A(99)v21705",39,13,0.33,"12309A","PRKAG2","chr7:151573731","m.586G>A(E1)","非编码区","rs66628686",0.19,0.31,0.3,0.31,0.28,0.26,"杂合","无关","有rs号，MAF>=5%",null,"WPW综合征(预激综合征）","AD",194200,5,1,3,3,"PRKAG2",0.96,200,"非编码区",14200,"0.31=22/70","位于基因组单拷贝区域+DNA结构正常",51422,"7q36.1","NM_016203.3"]
["12309A(99)v26082",36,36,1,"12309A","PRKCZ","chr1:1991014","c.318A>G(E4)","p.106,P>P","rs1878745",0.24,0.54,0.6,0.47,0.49,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRKCZ",0.95,80,"同义",13203,"1.00=53/53","位于基因组单拷贝区域+DNA结构正常",5590,"1p36.33-p36.2","NM_002744.4"]
["12309A(99)v26409",3,2,0.67,"12309A","PRMT10","chr4:148605099","c.40C>A(E1)","p.14,G>C","rs78226695",0.028,0.13,0.15,0.11,0.11,0.16,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"PRMT10",1,240,"错义",12120,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",90826,"4q31.23","NM_138364.2"]
["12309A(99)v6687",12,5,0.42,"12309A","PRODH","chr22:18908875","c.667A>G(E8)","p.223,L>L","rs1808320",0.73,0.79,0.76,0.82,0.77,0.81,"杂合","无关","有rs号，MAF>=5%",null,"高脯氨酸血症1型","AR",239500,5,3,11,2,"PRODH",0.85,29,"同义",13203,"0.47=8/17","位于基因组多拷贝区域+DNA结构正常",5625,"22q11.21","NM_001195226.1"]
["12309A(99)v12370",43,43,1,"12309A","PROZ","chr13:113818900","c.513A>G(E6)","p.171,T>T","rs564081",0.95,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"蛋白质Z缺陷症",null,614024,5,1,3,1,"PROZ",0.95,78,"同义",13203,"0.99=66/67","位于基因组单拷贝区域+DNA结构正常",8858,"13q34","NM_001256134.1"]
["12309A(99)v6349",77,62,0.81,"12309A","PRR21","chr2:240982247","c.153A>G(E1)","p.51,H>H","rs75044548",{"$nulls":4},0.4,0.041,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"PRR21",0.96,66,"同义",13303,"0.79=118/150","位于基因组单拷贝区域+DNA结构正常",643905,"2q37.3","NM_001080835.1"]
["12309A(99)v5368",6,1,0.17,"12309A","PRR5-ARHGAP8","chr22:45182459","c.418G>A(E5)","p.140,A>T",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"PRR5-ARHGAP8",1,68,"错义",12410,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",553158,"22q13","NM_181334.4"]
["12309A(99)v21478",129,128,0.99,"12309A","PRRC2C","chr1:171526570","c.5313G>A(E19)","p.1771,P>P","rs1687057",0.81,0.87,0.85,0.89,0.88,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PRRC2C",1,200,"同义",13203,"0.99=177/178","位于基因组单拷贝区域+DNA结构正常",23215,"1q23.3","NM_015172.3"]
["12309A(99)v12508",42,12,0.29,"12309A","PRSS48","chr4:152201018-152201019","c.123(E2)至c.124(E2):插入CAGGT","插入移码","rs148861921",0.21,0.2,0.21,0.19,0.02,0.2,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,2,0,"PRSS48",1,170,"插入移码",2120,"0.31=14/45","位于基因组多拷贝区域+DNA结构正常",345062,"4q31.3","NM_183375.2"]
["12309A(99)v21620",108,108,1,"12309A","PRUNE2","chr9:79322720","c.4470A>G(E8)","p.1490,D>D","rs680729",0.78,0.94,0.92,0.95,0.94,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,24,0,"PRUNE2",1,130,"同义",13203,"0.99=178/179","位于基因组单拷贝区域+DNA结构正常",158471,"9q21.2","NM_015225.2"]
["12309A(99)v776",12,12,1,"12309A","PSG4","chr19:43697229","m.1657G>A(E6)","非编码区","rs8603",0.77,0.91,0.91,0.92,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PSG4",1,250,"非编码区",14200,"1.00=13/13","位于基因组多拷贝区域+DNA结构正常",5672,"19q13.2","NM_002780.3"]
["12309A(99)v29078",27,15,0.56,"12309A","PSG5","chr19:43690678","m.11G>A(E1)","非编码区","rs12610809",0.21,0.4,0.36,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"PSG5",1,360,"非编码区",14200,"0.56=18/32","位于基因组多拷贝区域+DNA结构正常",5673,"19q13.2","NM_001130014.1"]
["12309A(99)v13923",211,211,1,"12309A","PSME4","chr2:54115904","c.4342A>G(E38)","p.1448,L>L","rs805400",0.35,0.45,0.43,0.47,0.44,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PSME4",1,290,"同义",13203,"1.00=417/417","位于基因组单拷贝区域+DNA结构正常",23198,"2p16.2","NM_014614.2"]
["12309A(99)v28458",5,1,0.2,"12309A","PSPN","chr19:6375843","c.18G>T(E1)","p.6,F>L",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"PSPN",0.52,3.9,"错义",12420,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",5623,"19p13.3","NM_004158.2"]
["12309A(99)v5398",6,1,0.17,"12309A","PTCHD2","chr1:11595137","c.3605C>T(E19)","p.1202,T>I",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"PTCHD2",0.98,39,"错义",12410,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",57540,"1p36.22","NM_020780.1"]
["12309A(99)v3203",86,39,0.45,"12309A","PTGFRN","chr1:117503940","c.1289G>A(E5)","p.430,R>Q","rs34625170",0.12,0.4,0.43,0.36,0.38,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PTGFRN",1,87,"错义",12220,"0.43=65/152","位于基因组单拷贝区域+DNA结构正常",5738,"1p13.1","NM_020440.2"]
["12309A(99)v25505",87,37,0.43,"12309A","PTPN14","chr1:214542819","c.3252T>C(E17)","p.1084,E>E","rs1135352",0.78,0.59,0.56,0.63,0.61,0.62,"杂合","无关","有rs号，MAF>=5%",null,"先天性鼻后孔闭锁伴淋巴水肿","AR",613611,5,3,4,1,"PTPN14",1,130,"同义",13203,"0.41=58/140","位于基因组单拷贝区域+DNA结构正常",5784,"1q32.2","NM_005401.4"]
["12309A(99)v29961",98,39,0.4,"12309A","PTPRD","chr9:8518052","c.1330G>C(E9)","p.444,Q>E","rs10977171",0.051,0.16,0.15,0.17,0.16,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PTPRD",1,220,"错义",12220,"0.41=56/135","位于基因组单拷贝区域+DNA结构正常",5789,"9p23-p24.3","NM_001040712.2"]
["12309A(99)v26242",70,37,0.53,"12309A","PTPRF","chr1:44072066","c.3639C>T(E20)","p.1213,P>P","rs10890266",0.28,0.45,0.46,0.44,0.45,0.48,"杂合","无关","有rs号，MAF>=5%",null,"乳房和/或乳头不发育或发育不全2型","AR",616001,5,3,11,1,"PTPRF",1,49,"同义",13203,"0.52=62/120","位于基因组单拷贝区域+DNA结构正常",5792,"1p34","NM_002840.3"]
["12309A(99)v18525",47,46,0.98,"12309A","PUS3","chr11:125766207","m.71C>T(E2)","非编码区","rs471980",0.8,0.89,0.9,0.88,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PUS3",1,140,"非编码区",14200,"0.97=72/74","位于基因组单拷贝区域+DNA结构正常",83480,"11q24.2","NM_031307.3"]
["12309A(99)v11754",2,2,1,"12309A","PWWP2B","chr10:134218269","c.265C>T(E2)","p.89,R>C","rs11146363",0.52,0.65,0.63,0.66,0.49,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PWWP2B",0.79,21,"错义",12220,"0.75=3/4","位于基因组单拷贝区域+DNA结构正常",170394,"10q26.3","NM_001098637.1"]
["12309A(99)v26187",36,19,0.53,"12309A","PYGB","chr20:25262789","IVS12+6T>C","剪切位点","rs2261790",0.54,0.94,0.93,0.95,null,0.92,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PYGB",1,67,"剪切位点",16202,"0.57=33/58","位于基因组单拷贝区域+DNA结构正常",5834,"20p11.2-p11.1","NM_002862.3"]
["12309A(99)v2532",159,56,0.35,"12309A","QRICH2","chr17:74288565-74288567","c.1745(E4)至c.1743(E4):缺失TGA","缺失非移码","rs35035566",0.47,0.54,0.5,0.58,0.12,0.56,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,16,0,"QRICH2",1,85,"缺失非移码",2222,"0.37=68/184","位于基因组多拷贝区域+DNA结构正常",84074,"17q25.1","NM_032134.1"]
["12309A(99)v11771",96,46,0.48,"12309A","RAB18","chr10:27822656-27822657","IVS5-8至IVS5-7:插入A","非编码区","rs142609338",0.093,0.32,0.3,0.35,0.26,0.31,"杂合","无关","内含子突变",null,"Warburg微小综合征3型","AR",614222,5,3,1,1,"RAB18",0.88,230,"非编码区",2500,"0.48=54/113","位于基因组单拷贝区域+DNA结构正常",22931,"10p12.1","NM_001256410.1"]
["12309A(99)v1000",22,10,0.45,"12309A","RAB38","chr11:87847063","m.812C>A(E3)","非编码区","rs1027027",0.28,0.16,0.19,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RAB38",1,160,"非编码区",14200,"0.41=11/27","位于基因组单拷贝区域+DNA结构正常",23682,"11q14","NM_022337.2"]
["12309A(99)v4352",116,116,1,"12309A","RAB7L1","chr1:205739396","m.925T>G(E6)","非编码区","rs823139",0.72,0.83,0.85,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RAB7L1",1,180,"非编码区",14200,"1.00=197/197","位于基因组单拷贝区域+DNA结构正常",8934,"1q32","NM_001135662.1"]
["12309A(99)v11723",5,5,1,"12309A","RAD54L2","chr3:51697493","m.4586A>G(E22)","非编码区","rs904145",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RAD54L2",1,120,"非编码区",14200,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",23132,"3p21.2","NM_015106.2"]
["12309A(99)v26570",42,42,1,"12309A","RAI2","chrX:17819377","c.604T>C(E3)","p.202,M>V","rs6527818",null,1,1,1,0.99,1,"纯合","未知","未知",{"$nulls":4},3,null,1,0,"RAI2",1,34,"错义",12330,"1.00=68/68","位于基因组单拷贝区域+DNA结构正常",10742,"Xp22","NM_001172732.1"]
["12309A(99)v488",80,80,1,"12309A","RARRES3","chr11:63313644","c.411T>C(E4)","p.137,V>V","rs584905",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RARRES3",1,170,"同义",13203,"1.00=121/121","位于基因组单拷贝区域+DNA结构正常",5920,"11q23","NM_004585.3"]
["12309A(99)v23660",102,1,0.01,"12309A","RASGRF2","chr5:80503077-80503077","c.2980(E21):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"RASGRF2",1,190,"缺失移码",2140,"0.02=2/109","位于基因组单拷贝区域+DNA结构正常",5924,"5q13","NM_006909.2"]
["12309A(99)v3838",211,96,0.45,"12309A","RBAK","chr7:5096958","c.48T>C(E4)","p.16,D>D","rs11975068",0.26,0.43,0.45,0.4,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RBAK",1,170,"同义",13203,"0.45=177/390","位于基因组多拷贝区域+DNA结构正常",57786,"7p22.1","NM_001204456.1"]
["12309A(99)v8245",6,6,1,"12309A","RBM15","chr1:110882444","c.417A>G(E1)","p.139,E>E","rs814771",0.82,0.76,0.79,0.73,0.69,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RBM15",1,72,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",64783,"1p13","NM_001201545.1"]
["12309A(99)v12228",56,31,0.55,"12309A","RBP5","chr12:7281317","c.55C>T(E1)","p.19,D>N","rs10963",null,0.39,0.4,0.38,0.41,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"RBP5",1,100,"错义",12320,"0.55=44/80","位于基因组单拷贝区域+DNA结构正常",83758,"12p13.31","NM_031491.2"]
["12309A(99)v25567",242,99,0.41,"12309A","RCN1","chr11:32125961","c.939C>T(E6)","p.313,V>V","rs11529889",0.5,0.68,0.68,0.69,0.71,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RCN1",1,140,"同义",13203,"0.41=175/431","位于基因组多拷贝区域+DNA结构正常",5954,"11p13","NM_002901.2"]
["12309A(99)v16335",6,4,0.67,"12309A","RELT","chr11:73105534","c.801G>A(E9)","p.267,A>A","rs141705063",0.013,0.055,0.052,0.058,0.023,0.044,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RELT",1,25,"同义",13103,"0.67=4/6","位于基因组单拷贝区域+DNA结构正常",84957,"11q13.4","NM_032871.3"]
["12309A(99)v20841",38,38,1,"12309A","RET","chr10:43595968","c.135A>G(E2)","p.45,A>A","rs1800858",0.75,0.52,0.53,0.51,0.53,0.55,"纯合","无关","有疾病相关报道，MAF>=5%","15759212;17267408;18091754;19138047;20454948;20532249;21349203;24897126;10521317;10922382;","先天性中枢性肺换气不足综合征","AD",209880,5,1,7,7,"RET",0.95,62,"同义",11200,"1.00=60/60","位于基因组单拷贝区域+DNA结构正常",5979,"10q11.2","NM_020630.4"]
["12309A(99)v20842",74,74,1,"12309A","RET","chr10:43622217","m.3424T>C(E19)","非编码区","rs2075912",0.75,0.5,0.52,0.49,0.51,0.54,"纯合","无关","有rs号，MAF>=5%",null,"先天性巨结肠症1型（易感）","AD",142623,5,1,7,7,"RET",0.95,62,"非编码区",14200,"1.00=122/122","位于基因组单拷贝区域+DNA结构正常",5979,"10q11.2","NM_020630.4"]
["12309A(99)v16545",162,75,0.46,"12309A","RFX3","chr9:3275578","c.1008A>T(E10)","p.336,V>V","rs2304930",0.0054,0.019,0.019,0.019,0.046,0.032,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"RFX3",1,230,"同义",13103,"0.49=130/267","位于基因组单拷贝区域+DNA结构正常",5991,"9p24.2","NM_002919.2"]
["12309A(99)v7577",86,30,0.35,"12309A","RGPD1","chr2:87211874","IVS18-3T>C","剪切位点","rs191726137",0.49,0.5,0.55,0.44,null,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RGPD1",1,770,"剪切位点",16202,"0.37=47/128","位于基因组多拷贝区域+DNA结构正常",400966,"2p11.2","NM_001024457.3"]
["12309A(99)v3160",34,17,0.5,"12309A","RGS12","chr4:3417845","c.2424G>C(E7)","p.808,L>L","rs3213507",0.38,0.5,0.5,0.5,0.49,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RGS12",1,70,"同义",13203,"0.56=30/54","位于基因组单拷贝区域+DNA结构正常",6002,"4p16.3","NM_002926.3"]
["12309A(99)v16732",13,13,1,"12309A","RHBDF1","chr16:109103","c.2017T>C(E17)","p.673,I>V","rs78143373",0.018,0.087,0.095,0.078,0.052,0.1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"RHBDF1",0.93,30,"错义",12120,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",64285,"16p13.3","NM_022450.3"]
["12309A(99)v6190",5,1,0.2,"12309A","RHPN1","chr8:144464695","c.1887C>T(E15)","p.629,A>A",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"RHPN1",1,14,"同义",13403,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",114822,"8q24.3","NM_052924.2"]
["12309A(99)v21200",164,164,1,"12309A","RIF1","chr2:152322095","c.6061A>T(E30)","p.2021,N>Y","rs2444257",0.66,0.8,0.8,0.81,0.78,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RIF1",1,240,"错义",12220,"1.00=249/249","位于基因组单拷贝区域+DNA结构正常",55183,"2q23.3","NM_001177663.1"]
["12309A(99)v26395",159,73,0.46,"12309A","RIOK2","chr5:96512865","c.453T>A(E4)","p.151,L>L","rs2548319",0.69,0.65,0.65,0.66,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RIOK2",1,220,"同义",13203,"0.44=113/257","位于基因组单拷贝区域+DNA结构正常",55781,"5q15","NM_001159749.1"]
["12309A(99)v27310",18,18,1,"12309A","RNASE12","chr14:21058337","m.646C>T(E1)","非编码区","rs4981259",0.39,0.33,0.33,0.33,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RNASE12",1,180,"非编码区",14200,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",493901,"14q11.1","NM_001024822.2"]
["12309A(99)v15216",8,8,1,"12309A","RNF121","chr11:71707489","m.1452T>C(E9)","非编码区","rs3829215",0.9,0.84,0.84,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RNF121",1,140,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",55298,"11q13.4","NM_018320.4"]
["12309A(99)v14124",1,1,1,"12309A","RNF207","chr1:6270923","IVS10-7G>T","剪切位点",{"$nulls":7},"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"RNF207",0.96,33,"剪切位点",16402,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",388591,"1p36.31","NM_207396.2"]
["12309A(99)v22039",44,44,1,"12309A","RNF213","chr17:78306308","c.4020C>G(E21)","p.1340,V>V","rs9908287",0.49,0.41,0.38,0.43,0.34,0.45,"纯合","无关","有rs号，MAF>=5%",null,"烟雾病2型/毛毛样脑血管病2型",null,607151,5,1,23,1,"RNF213",1,98,"同义",13203,"1.00=79/79","位于基因组单拷贝区域+DNA结构正常",57674,"17q25.3","NM_001256071.1"]
["12309A(99)v19190",10,5,0.5,"12309A","RNH1","chr11:499059","c.570C>T(E6)","p.190,L>L","rs17584",0.22,0.19,0.17,0.21,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RNH1",0.95,12,"同义",13203,"0.50=8/16","位于基因组单拷贝区域+DNA结构正常",6050,"11p15.5","NM_002939.3"]
["12309A(99)v27613",166,78,0.47,"12309A","ROS1","chr6:117622188","c.6682T>G(E42)","p.2228,K>Q","rs529156",0.14,0.18,0.18,0.18,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ROS1",1,270,"错义",12220,"0.48=140/294","位于基因组单拷贝区域+DNA结构正常",6098,"6q22","NM_002944.2"]
["12309A(99)v20044",5,3,0.6,"12309A","RPL10A","chr6:35436571","IVS1-5C>T","剪切位点","rs11553979",0.14,0.11,0.11,0.11,0.076,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RPL10A",1,62,"剪切位点",16202,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",4736,"6p21.31","NM_007104.4"]
["12309A(99)v3807",12,12,1,"12309A","RPL14","chr3:40498933","m.104A>G(E1)","非编码区","rs4973904",0.97,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RPL14",1,170,"非编码区",14200,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",9045,"3p22-p21.2","NM_001034996.2"]
["12309A(99)v15936",13,9,0.69,"12309A","RPS6KB1","chr17:58024324","m.1856A>G(E15)","非编码区","rs1051424",0.18,0.4,0.43,0.37,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RPS6KB1",0.93,250,"非编码区",14200,"0.67=10/15","位于基因组多拷贝区域+DNA结构正常",6198,"17q23.1","NM_003161.2"]
["12309A(99)v13635",16,7,0.44,"12309A","RRBP1","chr20:17596587","c.2636G>A(E23)","p.879,T>M","rs2229893",0.023,0.094,0.1,0.083,0.089,0.081,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"RRBP1",0.95,50,"错义",12120,"0.46=11/24","位于基因组单拷贝区域+DNA结构正常",6238,"20p12","NM_001042576.1"]
["12309A(99)v27686",11,5,0.45,"12309A","RRN3","chr16:15155407","m.2218G>A(E18)","非编码区","rs11551276",0.13,0.22,0.21,0.22,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RRN3",1,260,"非编码区",14200,"0.50=6/12","位于基因组单拷贝区域+DNA结构正常",54700,"16p12","NM_018427.3"]
["12309A(99)v28852",4,4,1,"12309A","RSPH1","chr21:43892641","m.1322T>C(E9)","非编码区","rs2839531",0.86,0.77,0.68,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍24型 ","AR",615481,5,1,1,1,"RSPH1",1,210,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",89765,"21q22.3","NM_080860.2"]
["12309A(99)v28959",11,2,0.18,"12309A","RSPO1","chr1:38082213","c.229G>A(E5)","p.77,P>S",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"掌跖角化病合并皮肤鳞状细胞癌和性反转",null,610644,3,2,3,1,"RSPO1",1,23,"错义",12420,"0.19=3/16","位于基因组单拷贝区域+DNA结构正常",284654,"1p34.3","NM_001038633.3"]
["12309A(99)v18440",4,2,0.5,"12309A","RTP2","chr3:187416634","c.330C>A(E2)","p.110,L>L","rs1973791",0.49,0.76,0.74,0.78,0.6,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RTP2",1,29,"同义",13203,"0.29=2/7","位于基因组多拷贝区域+DNA结构正常",344892,"3q27.3","NM_001004312.2"]
["12309A(99)v14091",114,47,0.41,"12309A","RXRG","chr1:165389129","c.51G>A(E4)","p.17,A>A","rs1128977",0.23,0.13,0.12,0.15,0.16,0.14,"杂合","无关","有rs号，MAF>=5%",18937358,{"$nulls":3},5,null,4,0,"RXRG",1,160,"同义",13203,"0.42=115/277","位于基因组单拷贝区域+DNA结构正常",6258,"1q22-q23","NM_001256570.1"]
["12309A(99)v14807",235,235,1,"12309A","RYR2","chr1:237881770","c.10503C>T(E73)","p.3501,T>T","rs2797441",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"儿茶酚胺敏感多形性室速1型","AD",604772,5,1,11,2,"RYR2",1,230,"同义",13203,"1.00=467/467","位于基因组单拷贝区域+DNA结构正常",6262,"1q43","NM_001035.2"]
["12309A(99)v27690",34,34,1,"12309A","RYR3","chr15:33954652","c.4921C>T(E35)","p.1641,R>C","rs4780144",0.84,0.9,0.92,0.87,0.92,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"RYR3",1,180,"错义",12220,"1.00=51/51","位于基因组单拷贝区域+DNA结构正常",6263,"15q14-q15","NM_001036.3"]
["12309A(99)v25748",12,5,0.42,"12309A","SAMD5","chr6:147885803","m.970C>T(E2)","非编码区","rs702341",0.25,0.32,0.34,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SAMD5",1,45,"非编码区",14200,"0.42=5/12","位于基因组单拷贝区域+DNA结构正常",389432,"6q24.3","NM_001030060.2"]
["12309A(99)v15224",10,10,1,"12309A","SARDH","chr9:136573412","c.1467G>A(E11)","p.489,H>H","rs2073815",0.42,0.46,0.46,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%",null,"高肌氨酸血症","AR",268900,5,1,5,1,"SARDH",1,37,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",1757,"9q33-q34","NM_001134707.1"]
["12309A(99)v12579",6,5,0.83,"12309A","SARS2","chr19:39408360","IVS13+4A>G","非编码区","rs7508411",0.83,0.98,0.97,0.98,null,0.97,"杂合","无关","有rs号，MAF>=5%",null,"高尿酸血症，肺动脉高压，肾功能衰竭和碱中毒","AR",613845,5,3,4,1,"SARS2",1,35,"非编码区",16203,"0.67=8/12","位于基因组单拷贝区域+DNA结构正常",54938,"19q13.2","NM_001145901.1"]
["12309A(99)v19734",7,7,1,"12309A","SCAP","chr3:47462200","c.1407T>C(E12)","p.469,G>G","rs900690",0.96,1,1,1,0.87,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SCAP",0.95,51,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",22937,"3p21.31","NM_012235.2"]
["12309A(99)v17862",65,65,1,"12309A","SCGB1D2","chr11:62010863","c.158C>T(E2)","p.53,P>L","rs2232950",0.47,0.8,0.8,0.81,0.79,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SCGB1D2",1,120,"错义",12210,"1.00=107/107","位于基因组多拷贝区域+DNA结构正常",10647,"11q13","NM_006551.3"]
["12309A(99)v869",19,8,0.42,"12309A","SCN11A","chr3:38888021","m.5739T>C(E26)","非编码区","rs4234133",0.55,0.53,0.53,0.53,null,null,"杂合","无关","有rs号，MAF>=5%",null,"遗传性感觉和自觉神经病VII型","AD",615548,5,1,5,2,"SCN11A",1,190,"非编码区",14200,"0.41=9/22","位于基因组单拷贝区域+DNA结构正常",11280,"3p22.2","NM_014139.2"]
["12309A(99)v10893",41,21,0.51,"12309A","SCN1B","chr19:35524939","c.744C>A(E3)","p.248,S>R","rs67701503",0.13,0.16,0.17,0.15,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",null,"癫痫伴热性惊厥附加症1型(伴热性惊厥的全面性癫痫1型)","AD",604233,5,1,5,3,"SCN1B",0.96,51,"错义",12220,"0.54=29/54","位于基因组单拷贝区域+DNA结构正常",6324,"19q13.1","NM_199037.3"]
["12309A(99)v15837",17,1,0.06,"12309A","SCN5A","chr3:38616871","c.3580G>A(E20)","p.1194,R>C",{"$nulls":5},0.00064,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"扩张性心肌病1E型","AD",601154,2,1,5,8,"SCN5A",1,82,"错义",12410,"0.17=4/23","位于基因组单拷贝区域+DNA结构正常",6331,"3p21","NM_000335.4"]
["12309A(99)v15840",8,5,0.62,"12309A","SCN5A","chr3:38674712","c.87T>C(E2)","p.29,A>A","rs6599230",0.78,0.7,0.7,0.71,0.63,0.69,"杂合","无关","有rs号，MAF>=5%",18368697,"家族性阵发性心室颤动1型",null,603829,5,2,5,8,"SCN5A",1,82,"同义",13203,"0.60=6/10","位于基因组单拷贝区域+DNA结构正常",6331,"3p21","NM_000335.4"]
["12309A(99)v8061",96,96,1,"12309A","SCN9A","chr2:167099158","c.3448A>G(E19)","p.1150,W>R","rs6746030",0.89,0.95,0.96,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%","20033988;20212137;22473870;23102778;23129781;15302875","原发性红斑性肢痛症","AD",133020,5,1,7,5,"SCN9A",1,280,"错义",12230,"0.99=149/150","位于基因组单拷贝区域+DNA结构正常",6335,"2q24","NM_002977.3"]
["12309A(99)v12111",193,2,0.01,"12309A","SCO1","chr17:10584443-10584443","c.899(E6):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"SCO1",1,170,"缺失移码",2140,"0.01=2/225","位于基因组单拷贝区域+简单重复结构",6341,"17p13.1","NM_004589.2"]
["12309A(99)v2321",81,81,1,"12309A","SDF4","chr1:1158631","c.570A>G(E4)","p.190,D>D","rs6603781",0.95,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SDF4",1,37,"同义",13203,"0.99=143/144","位于基因组单拷贝区域+DNA结构正常",51150,"1p36.33","NM_016176.3"]
["12309A(99)v30050",54,54,1,"12309A","SDPR","chr2:192701393","c.534A>G(E2)","p.178,G>G","rs10167187",0.63,0.73,0.72,0.74,0.68,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SDPR",1,64,"同义",13203,"1.00=105/105","位于基因组单拷贝区域+DNA结构正常",8436,"2q32-q33","NM_004657.5"]
["12309A(99)v10311",55,27,0.49,"12309A","SEC16A","chr9:139358059","IVS10-6G>A","剪切位点","rs11145753",0.14,0.16,0.16,0.16,null,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SEC16A",1,58,"剪切位点",16202,"0.50=42/84","位于基因组单拷贝区域+DNA结构正常",9919,"9q34.3","NM_014866.1"]
["12309A(99)v27170",49,23,0.47,"12309A","SEMA4A","chr1:156144971","c.1529G>A(E13)","p.510,R>Q","rs2075164",0.013,0.077,0.09,0.063,0.083,0.07,"杂合","可能相关","蛋白结构预测结果为有害",null,"视网膜色素变性35型-AD","AD,AR",610282,2,1,2,2,"SEMA4A",1,81,"错义",12110,"0.39=32/82","位于基因组单拷贝区域+DNA结构正常",64218,"1q22","NM_001193300.1"]
["12309A(99)v15447",42,19,0.45,"12309A","SEMA5A","chr5:9108333","c.1992C>T(E16)","p.664,R>R","rs34874986",0.18,0.34,0.34,0.34,0.29,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SEMA5A",1,130,"同义",13203,"0.47=34/72","位于基因组单拷贝区域+DNA结构正常",9037,"5p15.2","NM_003966.2"]
["12309A(99)v11539",12,8,0.67,"12309A","SERF2","chr15:44086147","c.490C>T(E3)","p.164,P>S","rs540137813",0.0006,0.0072,0.0095,0.0049,null,0.0059,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"SERF2",1,80,"错义",12120,"0.62=8/13","位于基因组多拷贝区域+DNA结构正常",10169,"15q15.3","NM_001199875.1"]
["12309A(99)v1927",189,83,0.44,"12309A","SERPINB11","chr18:61383354","c.443C>T(E5)","p.148,T>M","rs17071550",0.14,0.2,0.2,0.21,0.17,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"SERPINB11",1,220,"错义",12220,"0.44=137/311","位于基因组单拷贝区域+DNA结构正常",89778,"-","NM_080475.2"]
["12309A(99)v14240",80,39,0.49,"12309A","SERPINH1","chr11:75279846","c.693C>T(E4)","p.231,T>T","rs649257",0.38,0.19,0.2,0.18,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",null,"未足月胎膜早破",null,610504,5,2,4,2,"SERPINH1",1,41,"同义",13203,"0.48=54/112","位于基因组单拷贝区域+DNA结构正常",871,"11q13.5","NM_001207014.1"]
["12309A(99)v17723",102,101,0.99,"12309A","SETBP1","chr18:42533130","c.3825A>G(E4)","p.1275,S>S","rs8096662",0.91,0.95,0.94,0.97,0.96,0.96,"纯合","无关","有rs号，MAF>=5%",null,"Schinzel-Giedion面中部回缩综合征","AD",269150,5,1,3,2,"SETBP1",1,87,"同义",13203,"0.99=155/156","位于基因组单拷贝区域+DNA结构正常",26040,"18q21.1","NM_015559.2"]
["12309A(99)v22685",149,81,0.54,"12309A","SF3B1","chr2:198257795","c.3657T>C(E24)","p.1219,V>V","rs4685",0.72,0.52,0.47,0.56,0.59,0.54,"杂合","无关","有rs号，MAF>=5%",null,"骨髓增生异常综合征",null,614286,5,2,4,1,"SF3B1",1,270,"同义",13203,"0.53=132/250","位于基因组单拷贝区域+DNA结构正常",23451,"2q33.1","NM_012433.2"]
["12309A(99)v23523",143,142,0.99,"12309A","SFT2D1","chr6:166739646","c.325T>C(E5)","p.109,I>V","rs11551053",0.11,0.34,0.32,0.36,0.35,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SFT2D1",1,340,"错义",12220,"1.00=255/256","位于基因组单拷贝区域+DNA结构正常",113402,"6q27","NM_145169.1"]
["12309A(99)v29982",11,11,1,"12309A","SGK223","chr8:8234192","c.1727G>C(E2)","p.576,S>C","rs4840953",0.45,0.67,0.67,0.67,0.51,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SGK223",0.94,27,"错义",12220,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",157285,"8p23.1","NM_001080826.1"]
["12309A(99)v3233",20,12,0.6,"12309A","SH2D4B","chr10:82369195","c.729C>T(E6)","p.243,R>R","rs76540363",0.023,0.096,0.11,0.083,0.081,0.1,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"SH2D4B",1,68,"同义",13103,"0.56=15/27","位于基因组单拷贝区域+DNA结构正常",387694,"10q23.1","NM_001145719.1"]
["12309A(99)v8294",9,9,1,"12309A","SH3BP4","chr2:235951819","c.2406A>G(E4)","p.802,L>L","rs3795962",0.75,0.93,0.92,0.93,0.74,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SH3BP4",1,72,"同义",13203,"1.00=14/14","位于基因组单拷贝区域+DNA结构正常",23677,"2q37.1-q37.2","NM_014521.2"]
["12309A(99)v4288",1,1,1,"12309A","SH3RF3","chr2:109838617-109838618","UTR:插入AG","非编码区","rs57580141",0.25,0.34,0.34,0.34,null,null,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,22,0,"SH3RF3",0.82,41,"非编码区",2600,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",344558,"2q13","NM_001099289.1"]
["12309A(99)v16529",80,39,0.49,"12309A","SHBG","chr17:7530147","otherG>C","非编码区","rs858521",0.28,0.28,0.29,0.28,null,0.28,"杂合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,3,0,"SHBG",1,110,"非编码区",17000,"0.51=63/124","位于基因组单拷贝区域+DNA结构正常",6462,"17p13-p12","NM_001040.3"]
["12309A(99)v19850",90,90,1,"12309A","SI","chr3:164783165","c.691T>C(E7)","p.231,T>A","rs9283633",0.62,0.85,0.84,0.85,0.78,0.82,"纯合","无关","有rs号，MAF>=5%",null,"先天性蔗糖不耐受/先天性蔗糖-异麦芽糖酶缺乏症","AR",222900,5,1,4,1,"SI",1,330,"错义",12220,"0.99=154/155","位于基因组单拷贝区域+DNA结构正常",6476,"3q25.2-q26.2","NM_001041.3"]
["12309A(99)v10884",92,92,1,"12309A","SIGLEC12","chr19:52003331","c.297G>C(E1)","p.99,H>Q","rs6509544",0.83,0.53,0.53,0.53,0.55,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SIGLEC12",0.98,76,"错义",12220,"1.00=165/165","位于基因组多拷贝区域+DNA结构正常",89858,"19q13.4","NM_033329.1"]
["12309A(99)v12952",63,34,0.54,"12309A","SIPA1L2","chr1:232539219","c.4915C>T(E19)","p.1639,G>S","rs2275303",0.12,0.46,0.44,0.48,0.44,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SIPA1L2",1,130,"错义",12220,"0.50=51/101","位于基因组单拷贝区域+DNA结构正常",57568,"1q42.2","NM_020808.3"]
["12309A(99)v5961",59,59,1,"12309A","SKA1","chr18:47918639","m.1019A>C(E7)","非编码区","rs10460085",0.44,0.62,0.6,0.65,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SKA1",1,330,"非编码区",14200,"1.00=103/103","位于基因组单拷贝区域+DNA结构正常",220134,"18q21.1","NM_001039535.2"]
["12309A(99)v18264",21,21,1,"12309A","SLC12A3","chr16:56904587","c.791C>G(E6)","p.264,A>G","rs1529927",0.99,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"巴特综合征变异型（Gitelman's综合征）","AR",263800,5,1,2,1,"SLC12A3",1,67,"错义",12230,"1.00=35/35","位于基因组单拷贝区域+DNA结构正常",6559,"16q13","NM_000339.2"]
["12309A(99)v16167",16,16,1,"12309A","SLC12A8","chr3:124839470","c.797G>A(E6)","p.266,P>L","rs863642",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLC12A8",1,130,"错义",12230,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",84561,"3q21.2","NM_001195483.1"]
["12309A(99)v1671",65,35,0.54,"12309A","SLC14A2","chr18:43262501","m.3114C>T(E21)","非编码区","rs3745008",0.43,0.37,0.37,0.38,null,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SLC14A2",1,160,"非编码区",14200,"0.53=53/100","位于基因组单拷贝区域+DNA结构正常",8170,"18q12.1-q21.1","NM_001242692.1"]
["12309A(99)v24958",9,1,0.11,"12309A","SLC17A9","chr20:61591891","c.433C>A(E4)","p.145,Q>K",{"$nulls":5},0.0011,null,"杂合","可能相关","蛋白结构预测结果为有害",null,"弥漫性浅表性汗孔角化症8型",null,616063,2,2,6,1,"SLC17A9",1,36,"错义",12410,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",63910,"20q13.33","NM_022082.3"]
["12309A(99)v20036",66,33,0.5,"12309A","SLC22A18AS","chr11:2920666","c.266C>T(E3)","p.89,G>D","rs365605",0.61,0.38,0.36,0.41,0.42,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLC22A18AS",1,79,"错义",12220,"0.47=47/99","位于基因组单拷贝区域+DNA结构正常",5003,"11p15.5","NM_007105.2"]
["12309A(99)v30431",96,43,0.45,"12309A","SLC22A25","chr11:62931484","c.1456T>C(E9)","p.486,M>V","rs6591771",0.54,0.55,0.55,0.55,0.56,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SLC22A25",1,220,"错义",12220,"0.40=62/156","位于基因组多拷贝区域+DNA结构正常",387601,"11q12.3","NM_199352.3"]
["12309A(99)v11707",99,49,0.49,"12309A","SLC24A3","chr20:19560664","c.369G>A(E4)","p.123,A>A","rs3790261",0.65,0.68,0.67,0.69,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",19574904,{"$nulls":3},5,null,3,0,"SLC24A3",0.93,120,"同义",13203,"0.52=86/164","位于基因组单拷贝区域+DNA结构正常",57419,"20p13","NM_020689.3"]
["12309A(99)v18060",190,83,0.44,"12309A","SLC25A30","chr13:45978486","c.369A>C(E5)","p.123,I>M","rs200588795",0.0004,0.0024,0,0.0049,0.0046,0.0032,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"SLC25A30",1,260,"错义",12120,"0.45=150/335","位于基因组单拷贝区域+DNA结构正常",253512,"13q14.13","NM_001010875.2"]
["12309A(99)v2875",104,104,1,"12309A","SLC26A2","chr5:149360877","c.1721T>C(E3)","p.574,I>T","rs30832",{"$nulls":4},0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"骨畸形发育不良","AR",222600,3,1,1,4,"SLC26A2",1,150,"错义",12320,"1.00=199/199","位于基因组单拷贝区域+DNA结构正常",1836,"5q31-q34","NM_000112.3"]
["12309A(99)v26098",97,31,0.32,"12309A","SLC2A14","chr12:7966908","m.1684T>C(E12)","非编码区","rs3741856",{"$nulls":5},0.31,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"SLC2A14",0.94,250,"非编码区",14300,"0.32=47/146","位于基因组多拷贝区域+DNA结构正常",144195,"12p13.31","NM_153449.2"]
["12309A(99)v18372",96,47,0.49,"12309A","SLC30A8","chr8:118184784","c.827G>A(E10)","p.276,R>Q","rs16889462",0.049,0.048,0.062,0.034,0.077,0.08,"杂合","未知","蛋白结构预测结果为容忍或无害","20809084;24864266","非胰岛素依赖型糖尿病(易感)","AD",125853,3,1,6,1,"SLC30A8",1,180,"错义",12120,"0.48=87/183","位于基因组单拷贝区域+DNA结构正常",169026,"8q24.11","NM_001172811.1"]
["12309A(99)v13869",34,10,0.29,"12309A","SLC35G5","chr8:11189681","m.1187A>G(E1)","非编码区",{"$nulls":6},0.021,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"SLC35G5",1,82,"非编码区",14400,"0.35=15/43","位于基因组多拷贝区域+DNA结构正常",83650,"8p23.1","NM_054028.1"]
["12309A(99)v30601",94,93,0.99,"12309A","SLC36A2","chr5:150723806","c.187G>A(E2)","p.63,L>L","rs192192",0.63,0.98,0.98,0.99,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",null,"家族性肾原型亚甘氨酸尿症","AR",242600,5,1,4,2,"SLC36A2",1,170,"同义",13203,"0.99=150/152","位于基因组单拷贝区域+DNA结构正常",153201,"5q33.1","NM_181776.2"]
["12309A(99)v15278",21,11,0.52,"12309A","SLC39A11","chr17:70643565","m.1302A>G(E10)","非编码区","rs9912126",0.14,0.11,0.1,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SLC39A11",1,120,"非编码区",14200,"0.52=11/21","位于基因组单拷贝区域+DNA结构正常",201266,"17q21.31","NM_001159770.1"]
["12309A(99)v18273",128,49,0.38,"12309A","SLC44A3","chr1:95360535-95360535","m.2129(E15):缺失A","非编码区","rs145584562",0.05,0.089,0.062,0.12,0.021,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"SLC44A3",0.99,250,"非编码区",2410,"0.40=55/138","位于基因组单拷贝区域+DNA结构正常",126969,"1p21.3","NM_001114106.2"]
["12309A(99)v14827",5,3,0.6,"12309A","SLC45A4","chr8:142229834","c.372G>A(E3)","p.124,T>T","rs2304280",0.15,0.26,0.25,0.27,0.21,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"SLC45A4",0.98,33,"同义",13203,"0.57=4/7","位于基因组单拷贝区域+DNA结构正常",57210,"8q24.3","NM_001080431.1"]
["12309A(99)v24013",13,13,1,"12309A","SLC52A1","chr17:4936972","c.812G>A(E3)","p.271,A>V","rs346821",0.53,0.24,0.21,0.27,0.2,0.23,"纯合","无关","有rs号，MAF>=5%",null,"核黄素缺乏症 ","AD",615026,5,1,3,1,"SLC52A1",1,45,"错义",12220,"1.00=16/16","位于基因组单拷贝区域+DNA结构正常",55065,"17p13.2","NM_001104577.1"]
["12309A(99)v14293",1,1,1,"12309A","SLC5A12","chr11:26692193","m.2626A>G(E15)","非编码区","rs6484242",0.32,0.44,0.5,0.39,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"SLC5A12",1,230,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",159963,"11p14.2","NM_178498.3"]
["12309A(99)v22513",13,13,1,"12309A","SLC6A5","chr11:20623156","c.485C>G(E2)","p.162,A>G","rs1443549",0.99,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性过度惊吓症3型","AD,AR",614618,5,1,5,1,"SLC6A5",0.96,150,"错义",12220,"1.00=26/26","位于基因组单拷贝区域+DNA结构正常",9152,"11p15.1","NM_004211.3"]
["12309A(99)v4850",40,38,0.95,"12309A","SLC7A14","chr3:170198898","c.1173C>T(E7)","p.391,S>S","rs3732449",0.34,0.42,0.37,0.46,0.36,0.39,"纯合","无关","有rs号，MAF>=5%",null,"视网膜色素变性68型","AR",615725,5,1,2,1,"SLC7A14",1,110,"同义",13203,"0.97=60/62","位于基因组单拷贝区域+DNA结构正常",57709,"3q26.2","NM_020949.2"]
["12309A(99)v21063",49,20,0.41,"12309A","SLCO1B7","chr12:21201663","c.1012G>A(E8)","p.338,A>T","rs11045689",0.47,0.4,0.37,0.43,0.44,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLCO1B7",1,350,"错义",12220,"0.39=28/71","位于基因组多拷贝区域+DNA结构正常",338821,"12p12.2","NM_001009562.4"]
["12309A(99)v3100",11,11,1,"12309A","SLFN11","chr17:33679204-33679205","m.3401(E7)至m.3400(E7):插入A","非编码区","rs5820113",0.99,1,1,1,0.11,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,6,0,"SLFN11",1,170,"非编码区",2420,"1.00=12/12","位于基因组多拷贝区域+DNA结构正常",91607,"17q12","NM_001104587.1"]
["12309A(99)v290",162,67,0.41,"12309A","SLK","chr10:105727657-105727658","IVS1+4至IVS1+5:缺失AG","非编码区","rs67597452",0.48,0.74,0.75,0.74,0.087,0.73,"杂合","无关","内含子突变",{"$nulls":4},5,null,4,0,"SLK",1,230,"非编码区",2500,"0.41=77/189","位于基因组单拷贝区域+DNA结构正常",9748,"10q24.33","NM_014720.2"]
["12309A(99)v25851",238,237,1,"12309A","SMAP1","chr6:71546702","c.635C>T(E7)","p.212,A>V","rs2273566",0.27,0.58,0.6,0.56,0.57,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SMAP1",1,260,"错义",12220,"0.99=515/518","位于基因组单拷贝区域+DNA结构正常",60682,"6q13","NM_001044305.1"]
["12309A(99)v23135",25,25,1,"12309A","SMG6","chr17:2203167","c.880T>G(E2)","p.294,K>Q","rs216195",0.4,0.64,0.64,0.64,0.57,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SMG6",0.98,120,"错义",12220,"1.00=34/34","位于基因组单拷贝区域+DNA结构正常",23293,"17p13.3","NM_017575.4"]
["12309A(99)v9065",3,1,0.33,"12309A","SMPD2","chr6:109762236","m.306G>A(E1)","非编码区","rs1048203",0.31,0.39,0.39,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SMPD2",1,92,"非编码区",14200,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",6610,"6q21","NM_003080.2"]
["12309A(99)v6880",114,50,0.44,"12309A","SMU1","chr9:33047398","IVS11-9T>C","剪切位点","rs2274767",0.39,0.3,0.3,0.3,null,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SMU1",1,240,"剪切位点",16202,"0.48=99/206","位于基因组单拷贝区域+DNA结构正常",55234,"9p12","NM_018225.2"]
["12309A(99)v23917",4,4,1,"12309A","SNCB","chr5:176056529","IVS3+6A>G","剪切位点","rs4868669",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"弥漫性莱维小体病","AD",127750,5,1,1,1,"SNCB",1,69,"剪切位点",16201,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",6620,"5q35","NM_001001502.1"]
["12309A(99)v17775",99,98,0.99,"12309A","SNRNP48","chr6:7606255","IVS7-9G>A","剪切位点","rs2757597",0.7,0.63,0.62,0.64,null,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SNRNP48",1,210,"剪切位点",16202,"0.99=152/153","位于基因组单拷贝区域+DNA结构正常",154007,"6p24.3","NM_152551.3"]
["12309A(99)v16597",29,15,0.52,"12309A","SNX19","chr11:130785304","c.531T>C(E1)","p.177,A>A","rs3751034",0.13,0.15,0.17,0.13,0.13,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"SNX19",1,110,"同义",13203,"0.51=24/47","位于基因组多拷贝区域+DNA结构正常",399979,"11q25","NM_014758.2"]
["12309A(99)v21920",228,114,0.5,"12309A","SNX7","chr1:99225627","c.1296G>A(E9)","p.432,E>E","rs2019213",0.88,0.64,0.71,0.57,0.58,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SNX7",1,270,"同义",13203,"0.47=204/434","位于基因组单拷贝区域+DNA结构正常",51375,"1p21.3","NM_015976.4"]
["12309A(99)v16977",135,70,0.52,"12309A","SORBS2","chr4:186598275","c.368C>A(E5)","p.123,G>V","rs141281850",0.0008,0.0048,0,0.0097,0.0069,0.0064,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"SORBS2",1,170,"错义",12120,"0.52=122/236","位于基因组单拷贝区域+DNA结构正常",8470,"4q35.1","NM_001145673.1"]
["12309A(99)v24395",181,181,1,"12309A","SORT1","chr1:109897103","c.186A>G(E5)","p.62,F>F","rs11142",0.78,0.96,0.93,0.99,0.97,0.96,"纯合","无关","有rs号，MAF>=5%",null,"低密度脂蛋白胆固醇水平数量性状位点6",null,613589,5,1,2,1,"SORT1",0.88,200,"同义",13203,"1.00=276/276","位于基因组单拷贝区域+DNA结构正常",6272,"1p13.3|1p21.3-p13.1","NM_001205228.1"]
["12309A(99)v330",132,72,0.55,"12309A","SPAG11B","chr8:7308729","IVS2-8G>C","剪切位点","rs2294141",{"$nulls":4},0.49,0.46,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,2,0,"SPAG11B",1,350,"剪切位点",16302,"0.54=130/241","位于基因组多拷贝区域+DNA结构正常",10407,"8p23.1","NM_016512.3"]
["12309A(99)v7171",3,2,0.67,"12309A","SPATA21","chr1:16736546","IVS5-8C>T","剪切位点","rs10907226",0.62,0.9,0.91,0.89,null,0.92,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SPATA21",0.94,54,"剪切位点",16202,"0.80=4/5","位于基因组单拷贝区域+DNA结构正常",374955,"1p36.13","NM_198546.1"]
["12309A(99)v1908",58,31,0.53,"12309A","SPATA24","chr5:138732579","c.528C>T(E6)","p.176,E>E","rs10900862",0.39,0.27,0.23,0.31,0.32,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SPATA24",1,100,"同义",13203,"0.51=42/82","位于基因组单拷贝区域+DNA结构正常",202051,"5q31.2","NM_194296.1"]
["12309A(99)v24125",62,61,0.98,"12309A","SPECC1L","chr22:24717850","c.902A>G(E4)","p.301,D>G","rs204710",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"面斜裂1型",null,600251,5,1,2,1,"SPECC1L",1,180,"错义",12220,"0.98=107/109","位于基因组单拷贝区域+DNA结构正常",23384,"22q11.23","NM_001145468.2"]
["12309A(99)v16997",5,4,0.8,"12309A","SPINK5","chr5:147516914-147516915","m.3718(E34)至m.3719(E34):插入CTC","非编码区","rs35952402",0.49,0.56,0.6,0.53,0.12,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"内瑟顿综合征/Netherton综合征 ","AR",256500,4,3,4,2,"SPINK5",1,290,"非编码区",2420,"0.80=4/5","位于基因组单拷贝区域+DNA结构正常",11005,"5q32","NM_001127698.1"]
["12309A(99)v9489",113,112,0.99,"12309A","SPP1","chr4:88903853","c.708C>T(E6)","p.236,A>A","rs1126616",0.36,0.72,0.77,0.67,0.72,0.71,"纯合","无关","有rs号，MAF>=5%","11933203;18335026;20713973;23692545;23784265;23952692",{"$nulls":3},5,null,3,0,"SPP1",0.88,180,"同义",13203,"0.99=177/178","位于基因组单拷贝区域+DNA结构正常",6696,"4q22.1","NM_000582.2"]
["12309A(99)v9265",30,16,0.53,"12309A","SPRR2F","chr1:153085232","IVS1-4A>C","剪切位点","rs72480208",0.15,0.39,0.37,0.41,null,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SPRR2F",1,140,"剪切位点",16202,"0.43=20/46","位于基因组多拷贝区域+DNA结构正常",6705,"1q21-q22","NM_001014450.1"]
["12309A(99)v10971",74,74,1,"12309A","SPTA1","chr1:158619728","c.3487A>C(E25)","p.1163,S>A","rs2482965",0.99,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"椭圆形红细胞增多症2型","AD",130600,5,1,15,3,"SPTA1",1,170,"错义",12220,"1.00=120/120","位于基因组单拷贝区域+DNA结构正常",6708,"1q21","NM_003126.2"]
["12309A(99)v10974",99,48,0.48,"12309A","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,"球形细胞增多症3型","AR",270970,5,3,15,3,"SPTA1",1,170,"同义",13203,"0.48=79/163","位于基因组单拷贝区域+DNA结构正常",6708,"1q21","NM_003126.2"]
["12309A(99)v26006",101,101,1,"12309A","SRCAP","chr16:30724070","c.2064G>T(E14)","p.688,R>R","rs4889500",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"Floating-Harbor综合征(常染色体显性遗传，语言障碍，发育迟缓，身体矮，面畸形等)","AD",136140,5,1,4,1,"SRCAP",1,80,"同义",13203,"1.00=168/168","位于基因组单拷贝区域+DNA结构正常",10847,"16p11.2","NM_006662.2"]
["12309A(99)v17999",89,39,0.44,"12309A","SRL","chr16:4245693","c.471A>G(E5)","p.157,R>R","rs10852643",0.81,0.71,0.72,0.7,0.65,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SRL",1,110,"同义",13203,"0.42=67/161","位于基因组单拷贝区域+DNA结构正常",6345,"16p13.3","NM_001098814.1"]
["12309A(99)v21887",10,4,0.4,"12309A","SRSF4","chr1:29475648","c.759T>G(E6)","p.253,E>D","rs2230679",0.72,0.57,0.55,0.58,0.58,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SRSF4",1,110,"错义",12220,"0.42=5/12","位于基因组单拷贝区域+DNA结构正常",6429,"1p35.3","NM_005626.4"]
["12309A(99)v14034",7,1,0.14,"12309A","SSPO","chr7:149523819","c.14648C>T(E96)","p.4883,A>V",{"$nulls":5},0.0048,null,"杂合","未知","未知",{"$nulls":4},3,null,7,0,"SSPO",0.93,16,"错义",12430,"0.22=2/9","位于基因组单拷贝区域+DNA结构正常",23145,"7q36.1","NM_198455.2"]
["12309A(99)v7981",8,8,1,"12309A","SSTR5","chr16:1129912","c.1044A>G(E1)","p.348,P>P","rs642249",0.94,0.93,0.94,0.93,0.87,0.93,"纯合","无关","有rs号，MAF>=5%",21810856,"生长激素型垂体腺瘤","AD",102200,5,1,2,1,"SSTR5",0.97,17,"同义",13203,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",6755,"16p13.3","NM_001053.3"]
["12309A(99)v21949",127,56,0.44,"12309A","STAG3","chr7:99799845","c.2445T>A(E24)","p.815,I>I","rs1043915",0.39,0.6,0.62,0.57,0.59,0.62,"杂合","无关","有rs号，MAF>=5%",null,"卵巢早衰8型","AR",615723,5,3,4,1,"STAG3",1,190,"同义",13203,"0.43=83/192","位于基因组单拷贝区域+DNA结构正常",10734,"7q22.1","NM_012447.2"]
["12309A(99)v10009",180,75,0.42,"12309A","STAT1","chr2:191874667","c.63A>G(E3)","p.21,L>L","rs2066802",0.11,0.22,0.2,0.24,0.2,0.22,"杂合","无关","有rs号，MAF>=5%","15657875;18803832;19434718","家族性念珠菌病7型","AD",614162,5,1,2,3,"STAT1",1,240,"同义",13203,"0.41=123/303","位于基因组单拷贝区域+DNA结构正常",6772,"2q32.2","NM_007315.3"]
["12309A(99)v26952",18,7,0.39,"12309A","STK11","chr19:1220473","c.566C>T(E4)","p.189,T>I",{"$nulls":6},0,"杂合","可能相关","蛋白结构预测结果为有害",null,"胰腺癌,易感2型",null,613347,2,2,2,3,"STK11",0.87,40,"错义",12410,"0.46=13/28","位于基因组单拷贝区域+DNA结构正常",6794,"19p13.3","NM_000455.4"]
["12309A(99)v26904",46,26,0.57,"12309A","STK19","chr6:31939345","otherG>A","非编码区","rs41267118",0.058,0.096,0.12,0.068,0.083,0.11,"杂合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,1,0,"STK19",0.62,12,"非编码区",17000,"0.59=40/68","位于基因组单拷贝区域+DNA结构正常",8859,"6p21.3","NM_004197.1"]
["12309A(99)v591",77,31,0.4,"12309A","STPG1","chr1:24706292","c.313T>C(E5)","p.105,I>V","rs1142057",0.37,0.43,0.41,0.44,0.47,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"STPG1",0.88,180,"错义",12220,"0.41=45/110","位于基因组单拷贝区域+DNA结构正常",90529,"1p36.11","NM_001199012.1"]
["12309A(99)v20015",63,23,0.37,"12309A","STT3A","chr11:125490759","m.2282T>C(E18)","非编码区","rs75078860",1.4E-3,0.012,0.024,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"先天性糖基化紊乱Iw型","AR",615596,3,3,2,1,"STT3A",1,190,"非编码区",14100,"0.37=30/82","位于基因组单拷贝区域+DNA结构正常",3703,"11q23.3","NM_152713.3"]
["12309A(99)v1769",39,23,0.59,"12309A","STYXL1","chr7:75630274","c.744T>C(E8)","p.248,Q>Q","rs8565",0.62,0.58,0.53,0.63,0.57,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"STYXL1",1,150,"同义",13203,"0.58=39/67","位于基因组单拷贝区域+DNA结构正常",51657,"7q11.23","NM_016086.2"]
["12309A(99)v1606",98,46,0.47,"12309A","SULT6B1","chr2:37402373","IVS4-4A>G","剪切位点","rs11569758",0.22,0.16,0.14,0.17,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SULT6B1",1,260,"剪切位点",16202,"0.48=80/168","位于基因组单拷贝区域+DNA结构正常",391365,"2p22.2","NM_001032377.1"]
["12309A(99)v22936",6,2,0.33,"12309A","SURF6","chr9:136199421","c.569G>A(E4)","p.190,T>M","rs143274946",0.0006,0.0048,0.0048,0.0049,0.0072,0.0041,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"SURF6",0.89,14,"错义",12120,"0.54=7/13","位于基因组单拷贝区域+DNA结构正常",6838,"9q34.2","NM_006753.4"]
["12309A(99)v28221",7,7,1,"12309A","SWAP70","chr11:9771687","m.2027G>C(E12)","非编码区","rs6483656",0.7,0.72,0.72,0.71,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SWAP70",1,240,"非编码区",14200,"1.00=7/7","位于基因组多拷贝区域+DNA结构正常",23075,"11p15","NM_015055.2"]
["12309A(99)v2804",58,57,0.98,"12309A","SYNE1","chr6:152466674","c.24780T>C(E137)","p.8260,E>E","rs2747662",0.37,0.28,0.29,0.27,0.29,0.3,"纯合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良4型","AD",612998,5,1,18,2,"SYNE1",1,190,"同义",13203,"0.99=99/100","位于基因组单拷贝区域+DNA结构正常",23345,"6q25","NM_033071.3"]
["12309A(99)v27875",53,24,0.45,"12309A","SYNE2","chr14:64637147","c.17202C>A(E94)","p.5734,L>L","rs7161192",0.37,0.57,0.6,0.55,0.57,0.58,"杂合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良5型","AD",612999,5,1,22,1,"SYNE2",1,210,"同义",13203,"0.44=30/68","位于基因组单拷贝区域+DNA结构正常",23224,"14q23.2","NM_015180.4"]
["12309A(99)v23194",168,74,0.44,"12309A","SYNJ1","chr21:34014283","IVS27-7C>A","剪切位点","rs2833929",0.29,0.34,0.32,0.35,0.37,0.33,"杂合","无关","有rs号，MAF>=5%",null,"帕金森氏病20型（早发性）","AR",615530,5,3,4,1,"SYNJ1",0.98,250,"剪切位点",16202,"0.44=113/259","位于基因组单拷贝区域+DNA结构正常",8867,"21q22.2","NM_001160302.1"]
["12309A(99)v10925",118,118,1,"12309A","SYTL2","chr11:85436500","c.1000T>C(E1)","p.334,M>V","rs580459",0.67,0.57,0.57,0.58,0.63,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SYTL2",1,180,"错义",12220,"1.00=195/195","位于基因组单拷贝区域+DNA结构正常",54843,"11q14","NM_206927.2"]
["12309A(99)v8188",37,15,0.41,"12309A","TACC2","chr10:123970530","c.824T>C(E3)","p.275,V>A","rs2295873",0.35,0.35,0.39,0.3,0.31,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"TACC2",1,79,"错义",12220,"0.35=18/52","位于基因组单拷贝区域+DNA结构正常",10579,"10q26","NM_006997.2"]
["12309A(99)v11258",189,103,0.54,"12309A","TAF3","chr10:8019223","c.2252C>T(E4)","p.751,A>V","rs117503332",0.0026,0.012,0.0048,0.019,0.027,0.021,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"TAF3",0.94,120,"错义",12120,"0.52=182/348","位于基因组单拷贝区域+DNA结构正常",83860,"10p15.1","NM_031923.2"]
["12309A(99)v28469",98,97,0.99,"12309A","TANC1","chr2:160019863","c.749A>G(E8)","p.250,N>S","rs12466551",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"TANC1",1,140,"错义",12220,"0.99=164/165","位于基因组单拷贝区域+DNA结构正常",85461,"2q24.2","NM_001145909.1"]
["12309A(99)v14750",9,9,1,"12309A","TAS1R1","chr1:6635231","c.1039A>G(E3)","p.347,K>E","rs10864628",0.92,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%","16782140;19092995;19696921",{"$nulls":3},5,null,2,0,"TAS1R1",0.97,63,"错义",12220,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",80835,"1p36.23","NM_138697.3"]
["12309A(99)v16975",72,72,1,"12309A","TAS2R3","chr7:141464765","c.807C>T(E1)","p.269,G>G","rs2270009",0.43,0.68,0.67,0.68,0.69,0.68,"纯合","无关","有rs号，MAF>=5%",19092995,{"$nulls":3},5,null,2,0,"TAS2R3",1,160,"同义",13203,"1.00=123/123","位于基因组单拷贝区域+DNA结构正常",50831,"7q31.3-q32","NM_016943.2"]
["12309A(99)v24511",136,66,0.49,"12309A","TASP1","chr20:13605903","IVS2-4A>T","剪切位点","rs2070307",0.37,0.28,0.31,0.25,0.3,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TASP1",1,310,"剪切位点",16202,"0.49=112/229","位于基因组多拷贝区域+DNA结构正常",55617,"20p12.1","NM_017714.2"]
["12309A(99)v5551",45,21,0.47,"12309A","TBC1D26","chr17:15644506","c.617C>T(E10)","p.206,A>V","rs11650318",0.25,0.28,0.24,0.32,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TBC1D26",1,170,"错义",12210,"0.44=34/78","位于基因组单拷贝区域+DNA结构正常",353149,"17p11.2","NM_178571.4"]
["12309A(99)v14262",43,43,1,"12309A","TBCC","chr6:42713618","c.194A>G(E1)","p.65,V>A","rs2234026",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TBCC",1,65,"错义",12230,"1.00=64/64","位于基因组单拷贝区域+DNA结构正常",6903,"6p21.1","NM_003192.2"]
["12309A(99)v13490",46,46,1,"12309A","TBX1","chr22:19750773","c.420T>C(E4)","p.140,F>F","rs41298814",0.23,0.47,0.46,0.48,0.5,0.47,"纯合","无关","有rs号，MAF>=5%",null,"Velocardiofacial综合征","AD",192430,5,1,4,4,"TBX1",0.63,32,"同义",13203,"1.00=66/66","位于基因组单拷贝区域+DNA结构正常",6899,"22q11.21","NM_005992.1"]
["12309A(99)v22405",193,11,0.06,"12309A","TCEB3C","chr18:44555268-44555269","c.946(E1)至c.945(E1):缺失CT","缺失移码",{"$nulls":6},0.0068,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,2,0,"TCEB3C",1,240,"缺失移码",2140,"0.06=12/214","位于基因组多拷贝区域+DNA结构正常",162699,"18q21.1","NM_145653.3"]
["12309A(99)v1885",137,68,0.5,"12309A","TCTN3","chr10:97445357","c.925C>A(E8)","p.309,A>S","rs55859130",0.02,0.043,0.057,0.029,0.038,0.026,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"Joubert综合征18型","AR",614815,3,3,2,2,"TCTN3",1,170,"错义",12120,"0.51=132/259","位于基因组单拷贝区域+DNA结构正常",26123,"10q24.1","NM_015631.5"]
["12309A(99)v8741",143,76,0.53,"12309A","TDRD5","chr1:179562740","c.378G>C(E3)","p.126,R>S","rs61310274",0.31,0.41,0.46,0.37,0.36,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TDRD5",0.95,200,"错义",12210,"0.53=111/211","位于基因组单拷贝区域+DNA结构正常",163589,"1q25.2","NM_001199085.1"]
["12309A(99)v27448",84,41,0.49,"12309A","TECPR1","chr7:97873994","c.420G>A(E5)","p.140,Y>Y","rs1874344",0.3,0.46,0.46,0.47,0.48,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TECPR1",1,31,"同义",13203,"0.51=72/142","位于基因组单拷贝区域+DNA结构正常",25851,"7q21.3","NM_015395.1"]
["12309A(99)v29331",67,67,1,"12309A","TES","chr7:115897392","c.1122G>C(E7)","p.374,R>R","rs4710",0.4,0.55,0.53,0.56,0.53,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TES",1,170,"同义",13203,"1.00=108/108","位于基因组单拷贝区域+DNA结构正常",26136,"7q31.2","NM_015641.3"]
["12309A(99)v613",109,109,1,"12309A","TF","chr3:133485133","c.1342A>G(E12)","p.448,I>V","rs2692696",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"转铁蛋白缺乏症（小细胞低色素性贫血）/无铁传递蛋白血症/家族性低转铁蛋白血症","AR",209300,5,1,3,1,"TF",0.98,180,"错义",12230,"1.00=169/169","位于基因组单拷贝区域+DNA结构正常",7018,"3q22.1","NM_001063.3"]
["12309A(99)v30000",57,25,0.44,"12309A","TG","chr8:134108453","c.7408C>T(E43)","p.2470,L>L","rs2069568",0.34,0.41,0.4,0.41,0.38,0.39,"杂合","无关","有rs号，MAF>=5%",null,"甲状腺激素生成障碍3型","AR",274700,5,3,11,2,"TG",1,120,"同义",13203,"0.45=42/93","位于基因组单拷贝区域+DNA结构正常",7038,"8q24","NM_003235.4"]
["12309A(99)v18617",48,48,1,"12309A","TGFBRAP1","chr2:105915128","c.723G>A(E3)","p.241,R>R","rs12476720",0.3,0.54,0.58,0.5,0.54,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TGFBRAP1",1,100,"同义",13203,"1.00=73/73","位于基因组单拷贝区域+DNA结构正常",9392,"2q12.1","NM_001142621.1"]
["12309A(99)v14739",50,50,1,"12309A","TGOLN2","chr2:85554080","c.775G>A(E2)","p.259,R>W","rs4247303",0.58,0.87,0.85,0.89,0.84,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"TGOLN2",1,110,"错义",12220,"1.00=74/74","位于基因组单拷贝区域+DNA结构正常",10618,"2p11.2","NM_001206840.1"]
["12309A(99)v14722",100,43,0.43,"12309A","THBS2","chr6:169622490","c.3075G>A(E20)","p.1025,A>A","rs9505895",0.22,0.14,0.15,0.14,0.14,0.15,"杂合","无关","有rs号，MAF>=5%",null,"椎间盘疾病（易感）",null,603932,5,2,8,1,"THBS2",0.99,74,"同义",13203,"0.47=96/205","位于基因组单拷贝区域+DNA结构正常",7058,"6q27","NM_003247.2"]
["12309A(99)v18450",127,126,0.99,"12309A","THSD7A","chr7:11581121","c.1747T>C(E6)","p.583,N>D","rs47",0.83,0.72,0.75,0.68,0.76,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"THSD7A",1,160,"错义",12220,"1.00=218/219","位于基因组单拷贝区域+DNA结构正常",221981,"7p21.3","NM_015204.2"]
["12309A(99)v18533",33,33,1,"12309A","TIAM2","chr6:155561760","c.40T>C(E2)","p.14,S>P","rs4259257",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TIAM2",1,160,"错义",12230,"1.00=56/56","位于基因组单拷贝区域+DNA结构正常",26230,"6q25.2","NM_001010927.2"]
["12309A(99)v11683",24,24,1,"12309A","TIMM17B","chrX:48751471","c.378A>G(E6)","p.126,I>I","rs1128363",null,0.68,0.71,0.65,0.71,0.77,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"TIMM17B",1,56,"同义",13303,"1.00=41/41","位于基因组单拷贝区域+DNA结构正常",10245,"Xp11.23","NM_001167947.1"]
["12309A(99)v17029",4,3,0.75,"12309A","TJP3","chr19:3740771","IVS14+10G>A","非编码区","rs112931167",0.18,0.21,0.2,0.22,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"TJP3",0.99,42,"非编码区",16203,"0.83=5/6","位于基因组单拷贝区域+DNA结构正常",27134,"19p13.3","NM_001267560.1"]
["12309A(99)v31265",68,68,1,"12309A","TLL1","chr4:167012480","c.2643T>C(E19)","p.881,A>A","rs2646914",0.97,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"房间隔缺损6型","AD",613087,5,1,4,1,"TLL1",0.99,280,"同义",13203,"1.00=103/103","位于基因组单拷贝区域+DNA结构正常",7092,"4q32-q33","NM_012464.4"]
["12309A(99)v7809",21,21,1,"12309A","TM4SF19","chr3:196054439","c.23T>G(E2)","p.8,Q>P","rs6785339",0.63,0.9,0.89,0.91,0.85,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TM4SF19",1,110,"错义",12220,"1.00=32/32","位于基因组单拷贝区域+DNA结构正常",116211,"3q29","NM_001204897.1"]
["12309A(99)v18693",1,1,1,"12309A","TMC5","chr16:19510249","m.4731G>A(E22)","非编码区","rs1134662",0.57,0.45,0.43,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TMC5",1,190,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",79838,"16p12.3","NM_001105248.1"]
["12309A(99)v8514",181,81,0.45,"12309A","TMCO3","chr13:114154419","c.771G>A(E4)","p.257,K>K","rs2260159",0.2,0.15,0.15,0.16,0.18,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"TMCO3",1,160,"同义",13203,"0.40=110/272","位于基因组单拷贝区域+DNA结构正常",55002,"13q34","NM_017905.4"]
["12309A(99)v3866",26,26,1,"12309A","TMEM110","chr3:52874446","m.1080C>T(E8)","非编码区","rs6769789",0.47,0.56,0.62,0.5,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM110",0.82,110,"非编码区",14200,"1.00=31/31","位于基因组单拷贝区域+DNA结构正常",375346,"3p21.1","NM_198563.2"]
["12309A(99)v3292",205,78,0.38,"12309A","TMEM133","chr11:100863153-100863153","c.114(E1):缺失C","缺失移码","rs529720630",0.0016,0.0048,0.0095,0,0,0.014,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,3,0,"TMEM133",1,220,"缺失移码",2110,"0.36=87/239","位于基因组单拷贝区域+DNA结构正常",83935,"11q22.1","NM_032021.2"]
["12309A(99)v16563",162,80,0.49,"12309A","TMEM156","chr4:39000305","c.313A>G(E2)","p.105,S>P","rs11542133",0.28,0.4,0.35,0.45,0.47,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMEM156",1,260,"错义",12210,"0.47=140/299","位于基因组单拷贝区域+DNA结构正常",80008,"4p14","NM_024943.1"]
["12309A(99)v3419",6,6,1,"12309A","TMEM183B","chr3:149701114-149701114","m.40(E1):缺失G","非编码区","rs34404328",0.35,0.59,0.57,0.61,0,0.66,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"TMEM183B",1,260,"非编码区",2420,"1.00=6/6","位于基因组多拷贝区域+DNA结构正常",653659,"3q25.1","NM_001079809.1"]
["12309A(99)v3909",13,8,0.62,"12309A","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%",{"$nulls":4},5,null,3,0,"TMEM206",0.85,130,"非编码区",14200,"0.71=12/17","位于基因组单拷贝区域+DNA结构正常",55248,"1q32.3","NM_001198862.1"]
["12309A(99)v1113",107,105,0.98,"12309A","TMEM241","chr18:20953720","c.391G>A(E7)","p.131,L>F","rs8099409",0.41,0.43,0.48,0.38,0.39,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMEM241",1,250,"错义",12220,"0.98=177/181","位于基因组单拷贝区域+DNA结构正常",85019,"18q11.2","NM_032933.4"]
["12309A(99)v13569",82,40,0.49,"12309A","TMEM55B","chr14:20928359","c.453C>A(E3)","p.151,R>R","rs35567022",0.14,0.45,0.46,0.45,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM55B",0.83,110,"同义",13203,"0.53=74/139","位于基因组单拷贝区域+DNA结构正常",90809,"14q11.2","NM_001100814.1"]
["12309A(99)v27445",18,9,0.5,"12309A","TMEM88","chr17:7758522","c.130C>T(E1)","p.44,L>F","rs2270518",0.042,0.23,0.24,0.22,0.22,0.23,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"TMEM88",0.77,13,"错义",12120,"0.45=15/33","位于基因组单拷贝区域+DNA结构正常",92162,"17p13.1","NM_203411.1"]
["12309A(99)v4915",7,1,0.14,"12309A","TMEM8A","chr16:427820","c.150C>T(E2)","p.50,S>S","rs12922073",null,0.31,0.3,0.33,0.32,0.37,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"TMEM8A",0.95,17,"同义",13303,"0.21=3/14","位于基因组单拷贝区域+DNA结构正常",58986,"16p13.3","NM_021259.2"]
["12309A(99)v11775",17,10,0.59,"12309A","TMPRSS12","chr12:51236802","c.55T>C(E1)","p.19,Y>H","rs10876100",0.3,0.4,0.41,0.38,0.37,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMPRSS12",1,270,"错义",12220,"0.59=16/27","位于基因组单拷贝区域+DNA结构正常",283471,"12q13.12","NM_182559.2"]
["12309A(99)v29910",13,1,0.08,"12309A","TNC","chr9:117849252","c.758G>T(E3)","p.253,P>Q",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"常染色体显性遗传耳聋56型","AD",615629,2,1,6,1,"TNC",1,110,"错义",12410,"0.12=2/16","位于基因组单拷贝区域+DNA结构正常",3371,"9q33","NM_002160.3"]
["12309A(99)v22864",5,1,0.2,"12309A","TNFRSF11A","chr18:60052103","c.850G>A(E8)","p.284,A>T",{"$nulls":5},0.00064,null,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"变形性骨炎","AD",602080,3,1,2,3,"TNFRSF11A",0.85,90,"错义",12420,"0.43=3/7","位于基因组单拷贝区域+DNA结构正常",8792,"18q22.1","NM_001270950.1"]
["12309A(99)v2938",28,11,0.39,"12309A","TNIP1","chr5:150422461","c.998T>G(E10)","p.333,Q>P","rs148243052",{"$nulls":4},2.3E-3,5.8E-4,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"TNIP1",1,81,"错义",12310,"0.40=16/40","位于基因组单拷贝区域+DNA结构正常",10318,"5q32-q33.1","NM_001252385.1"]
["12309A(99)v13354",7,4,0.57,"12309A","TNNI2","chr11:1861760","c.60T>C(E5)","p.20,S>S","rs907610",null,0.98,0.98,0.98,0.85,0.99,"杂合","未知","剪切位点预测容忍或无害的同义突变",null,"远端关节弯曲综合征2B","AD",601680,4,1,1,1,"TNNI2",1,27,"剪切位点",13302,"0.46=6/13","位于基因组单拷贝区域+DNA结构正常",7136,"11p15.5","NM_001145829.1"]
["12309A(99)v21551",96,96,1,"12309A","TNS1","chr2:218695102","c.3010G>A(E21)","p.1004,R>W","rs3796028",0.38,0.43,0.43,0.43,0.45,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"TNS1",1,54,"错义",12220,"0.99=176/177","位于基因组单拷贝区域+DNA结构正常",7145,"2q35-q36","NM_022648.4"]
["12309A(99)v16619",2,2,1,"12309A","TNXB","chr6:32025858","c.7802G>A(E22)","p.2601,P>L","rs575866552",1.8E-3,0.0096,0.0095,0.0097,0.0013,0.0069,"纯合","可能相关","蛋白结构预测结果为有害",null,"爱唐综合症(皮肤弹力过度症)3型（运动过度型）","AD",130020,2,1,6,3,"TNXB",0.74,14,"错义",12110,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",7148,"6p21.3","NM_019105.6"]
["12309A(99)v17538",3,3,1,"12309A","TOR2A","chr9:130494957","c.607T>C(E4)","p.203,K>E","rs538066",0.99,1,1,1,0.77,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TOR2A",0.96,27,"错义",12230,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",27433,"9q34.11","NM_001085347.2"]
["12309A(99)v26932",19,19,1,"12309A","TP53","chr17:7578645","m.167C>T(E1)","非编码区","rs2909430",0.84,0.96,0.96,0.97,null,null,"纯合","无关","有rs号，MAF>=5%",null,"神经胶质瘤,易感1型","AD",137800,5,1,3,11,"TP53",1,120,"非编码区",14200,"1.00=23/23","位于基因组单拷贝区域+DNA结构正常",7157,"17p13.1","NM_001126115.1"]
["12309A(99)v11788",145,79,0.54,"12309A","TPH2","chr12:72416235","c.1125A>T(E9)","p.375,A>A","rs4290270",0.49,0.44,0.41,0.47,0.44,0.49,"杂合","无关","有rs号，MAF>=5%","17167340;17453063;18181017;18698231;19352219;19693267;19763617;20126463;20938755;21172166;21620479;21937687;22655589;23628433","注意力不足运动症,易感27型",null,613003,5,2,2,2,"TPH2",1,290,"同义",13203,"0.55=182/329","位于基因组单拷贝区域+DNA结构正常",121278,"12q21.1","NM_173353.3"]
["12309A(99)v29135",162,87,0.54,"12309A","TPM1","chr15:63363402","m.1077G>A(E9)","非编码区","rs11558748",0.37,0.47,0.48,0.47,null,0.42,"杂合","无关","有rs号，MAF>=5%",null,"扩张性心肌病1Y型",null,611878,5,2,5,2,"TPM1",1,130,"非编码区",14200,"0.57=211/371","位于基因组单拷贝区域+DNA结构正常",7168,"15q22.1","NM_001018004.1"]
["12309A(99)v2498",55,21,0.38,"12309A","TPSB2","chr16:1278744","c.735C>T(E6)","p.245,G>G","rs62012862",{"$nulls":4},0.44,0.78,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"TPSB2",0.94,46,"同义",13303,"0.37=32/87","位于基因组多拷贝区域+DNA结构正常",64499,"16p13.3","NM_024164.5"]
["12309A(99)v2101",2,2,1,"12309A","TRAF6","chr11:36508620","m.4625G>A(E7)","非编码区","rs5030487",0.53,0.79,0.81,0.76,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TRAF6",1,210,"非编码区",14200,"1.00=3/3","位于基因组多拷贝区域+DNA结构正常",7189,"11p12","NM_004620.3"]
["12309A(99)v28067",203,202,1,"12309A","TRDN","chr6:123687288","c.1316A>C(E20)","p.439,I>S","rs2873479",null,0.93,0.94,0.92,0.9,0.92,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"儿茶酚胺多形性室性心动过速5型伴或不伴肌肉无力（CPVT5）","AR",615441,3,1,10,1,"TRDN",0.99,260,"错义",12320,"0.99=362/364","位于基因组单拷贝区域+DNA结构正常",10345,"6q22.31","NM_001251987.1"]
["12309A(99)v9845",3,1,0.33,"12309A","TRIM14","chr9:100849939","c.1142C>T(E6)","p.381,R>H",{"$nulls":5},0.0017,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"TRIM14",0.72,61,"错义",12410,"0.50=2/4","位于基因组单拷贝区域+DNA结构正常",9830,"9q22.33","NM_014788.2"]
["12309A(99)v10481",2,2,1,"12309A","TRIM34","chr11:5665225","m.1910A>G(E8)","非编码区","rs7106798",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TRIM34",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",53840,"11p15","NM_001003827.1"]
["12309A(99)v10636",24,13,0.54,"12309A","TRIM66","chr11:8671369","c.75C>T(E3)","p.25,L>L","rs10840101",0.15,0.14,0.15,0.14,0.12,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"TRIM66",1,71,"同义",13203,"0.51=20/39","位于基因组单拷贝区域+DNA结构正常",9866,"11p15.4","NM_014818.1"]
["12309A(99)v18401",2,2,1,"12309A","TRIM6-TRIM34","chr11:5665225","m.3078A>G(E14)","非编码区","rs7106798",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TRIM6-TRIM34",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",445372,"11p15","NM_001003819.3"]
["12309A(99)v16956",106,47,0.44,"12309A","TRMT6","chr20:5923204","c.896T>C(E7)","p.299,E>G","rs451571",0.3,0.22,0.22,0.22,0.24,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TRMT6",1,230,"错义",12220,"0.44=74/167","位于基因组单拷贝区域+DNA结构正常",51605,"20p12.3","NM_015939.3"]
["12309A(99)v15521",337,337,1,"12309A","TRPC4AP","chr20:33657126","c.387G>A(E3)","p.129,Y>Y","rs1998233",0.79,0.77,0.74,0.8,0.79,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TRPC4AP",0.93,140,"同义",13203,"1.00=604/604","位于基因组单拷贝区域+DNA结构正常",26133,"20q11.22","NM_015638.2"]
["12309A(99)v11556",55,55,1,"12309A","TRPV3","chr17:3417123","m.2786C>T(E18)","非编码区","rs906418",1,1,1,1,null,null,"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",614594,5,1,9,1,"TRPV3",1,100,"非编码区",14200,"1.00=77/77","位于基因组单拷贝区域+DNA结构正常",162514,"17p13.2","NM_001258205.1"]
["12309A(99)v26191",8,1,0.12,"12309A","TSC1","chr9:135772092","c.3025C>T(E23)","p.1009,E>K",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",null,"结节性硬化病1型","AD",191100,3,1,3,3,"TSC1",1,150,"错义",12420,"0.20=2/10","位于基因组单拷贝区域+DNA结构正常",7248,"9q34","NM_000368.4"]
["12309A(99)v19646",11,3,0.27,"12309A","TSFM","chr12:58176614","c.30T>C(E1)","p.10,F>F","rs10747783",0.36,0.64,0.65,0.63,0.57,0.69,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷3型","AR",610505,5,3,1,1,"TSFM",0.94,120,"同义",13203,"0.30=6/20","位于基因组单拷贝区域+DNA结构正常",10102,"12q14.1","NM_001172695.1"]
["12309A(99)v13472",32,12,0.38,"12309A","TSPAN33","chr7:128807732","m.978T>G(E8)","非编码区","rs35331287",0.17,0.13,0.15,0.11,null,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TSPAN33",1,97,"非编码区",14200,"0.42=20/48","位于基因组单拷贝区域+DNA结构正常",340348,"7q32.1","NM_178562.3"]
["12309A(99)v24502",67,67,1,"12309A","TSPYL4","chr6:116574455","c.717G>A(E1)","p.239,H>H","rs2232472",0.39,0.64,0.6,0.69,0.62,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TSPYL4",1,79,"同义",13203,"1.00=93/93","位于基因组单拷贝区域+DNA结构正常",23270,"6q22.1","NM_021648.4"]
["12309A(99)v15918",100,100,1,"12309A","TTC30A","chr2:178481818","c.1612G>T(E1)","p.538,R>R","rs10497497",0.9,0.98,0.99,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%",17903294,{"$nulls":3},5,null,4,0,"TTC30A",1,110,"同义",13203,"1.00=155/155","位于基因组多拷贝区域+DNA结构正常",92104,"2q31.2","NM_152275.3"]
["12309A(99)v26021",7,1,0.14,"12309A","TTC40","chr10:134660764","c.6014G>T(E42)","p.2005,T>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,6,0,"TTC40",0.55,29,"错义",12420,"0.13=2/15","位于基因组单拷贝区域+DNA结构正常",54777,"10q26.3","NM_001200049.2"]
["12309A(99)v28086",1,1,1,"12309A","TTLL6","chr17:46839912","m.3135C>T(E16)","非编码区","rs2271890",0.87,0.92,0.91,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TTLL6",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",284076,"17q21.32","NM_001130918.1"]
["12309A(99)v15130",50,22,0.44,"12309A","TTN","chr2:179615887","c.11240T>C(E46)","p.3747,D>G","rs922984",0.73,0.75,0.75,0.75,0.74,0.75,"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,"错义",12220,"0.44=24/55","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_133379.3"]
["12309A(99)v15134",139,84,0.6,"12309A","TTN","chr2:179413110","c.88320G>A(E289)","p.29440,A>A","rs3731748",0.23,0.4,0.44,0.36,0.38,0.43,"杂合","无关","有rs号，MAF>=5%",null,"遗传性肌病伴早期呼吸衰竭",null,603689,5,2,68,6,"TTN",0.99,170,"同义",13203,"0.62=150/242","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15142",65,29,0.45,"12309A","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",600334,5,1,68,6,"TTN",0.99,170,"错义",12210,"0.45=44/97","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15151",100,50,0.5,"12309A","TTN","chr2:179454394","c.57135A>G(E254)","p.19045,Y>Y","rs1560221",0.51,0.7,0.73,0.66,0.63,0.7,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,3,68,6,"TTN",0.99,170,"同义",13203,"0.54=80/147","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15155",170,80,0.47,"12309A","TTN","chr2:179623758","c.10256C>T(E44)","p.3419,S>N","rs2291310",0.81,0.77,0.76,0.78,0.75,0.76,"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",12220,"0.50=146/291","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15157",106,49,0.46,"12309A","TTN","chr2:179404786","IVS301+9A>T","非编码区","rs2288325",0.23,0.4,0.44,0.36,0.37,0.44,"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,"非编码区",16203,"0.46=67/147","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15168",62,31,0.5,"12309A","TTN","chr2:179582537","c.24113G>T(E85)","p.8038,A>E","rs2627043",0.44,0.66,0.7,0.63,0.62,0.67,"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,"错义",12220,"0.49=38/77","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15170",46,46,1,"12309A","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,"肢带型肌营养不良症2J型","AR",608807,5,1,68,6,"TTN",0.99,170,"同义",13203,"1.00=69/69","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15180",93,48,0.52,"12309A","TTN","chr2:179406003","IVS300+6C>A","剪切位点","rs3731750",0.5,0.68,0.71,0.65,0.65,0.72,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,3,68,6,"TTN",0.99,170,"剪切位点",16202,"0.50=79/159","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15182",39,18,0.46,"12309A","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,"迟发性胫骨肌营养不良症","AD",600334,5,1,68,6,"TTN",0.99,170,"错义",12220,"0.45=28/62","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15191",120,56,0.47,"12309A","TTN","chr2:179569400","c.28848C>T(E103)","p.9616,S>S","rs2742344",0.084,0.22,0.23,0.22,0.22,0.22,"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=81/178","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v15195",143,2,0.01,"12309A","TTN","chr2:179413641-179413641","c.87789(E289):缺失T","缺失移码",{"$nulls":5},0,null,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",null,"先天性肌病,早发,伴心肌病","AR",611705,1,3,68,6,"TTN",0.99,170,"缺失移码",2140,"0.01=2/161","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001256850.1"]
["12309A(99)v9419",167,86,0.51,"12309A","TUBA1A","chr12:49580180","c.288T>C(E3)","p.96,K>K","rs1056875",0.56,0.74,0.76,0.71,0.73,0.74,"杂合","无关","有rs号，MAF>=5%",null,"无脑回畸形3型","AD",611603,5,1,3,1,"TUBA1A",1,220,"同义",13203,"0.50=128/254","位于基因组多拷贝区域+DNA结构正常",7846,"12q13.12","NM_001270399.1"]
["12309A(99)v3429",120,65,0.54,"12309A","TUBGCP5","chr15:22873325","m.3282A>G(E23)","非编码区","rs1046860",0.18,0.48,0.5,0.46,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TUBGCP5",0.99,220,"非编码区",14200,"0.54=99/185","位于基因组单拷贝区域+DNA结构正常",114791,"15q11.2","NM_052903.4"]
["12309A(99)v9904",2,2,1,"12309A","TXNDC12","chr1:52521776","m.68C>T(E1)","非编码区","rs2783189",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TXNDC12",1,260,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",51060,"1p32.3","NM_015913.3"]
["12309A(99)v20333",21,21,1,"12309A","UAP1L1","chr9:139977195","m.1570T>C(E9)","非编码区","rs4390039",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"UAP1L1",0.88,58,"非编码区",14200,"1.00=29/29","位于基因组单拷贝区域+DNA结构正常",91373,"9q34.3","NM_207309.2"]
["12309A(99)v6172",128,126,0.98,"12309A","UBE2NL","chrX:142967468","c.266T>G(E1)","p.89,L>X","rs237520",null,0.65,0.65,0.66,0.65,0.67,"纯合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,1,0,"UBE2NL",1,150,"截断",15300,"0.99=204/207","位于基因组多拷贝区域+DNA结构正常",389898,"Xq27.3","NM_001012989.1"]
["12309A(99)v19799",75,75,1,"12309A","UBR4","chr1:19413261","c.14599T>A(E100)","p.4867,M>L","rs12584",0.6,0.76,0.77,0.75,0.76,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"UBR4",1,140,"错义",12220,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",23352,"1p36.13","NM_020765.2"]
["12309A(99)v24476",107,46,0.43,"12309A","UBXN4","chr2:136511817","c.303A>G(E4)","p.101,E>E","rs1050115",0.2,0.19,0.2,0.18,0.21,0.17,"杂合","无关","有rs号，MAF>=5%","16251468;24554778",{"$nulls":3},5,null,2,0,"UBXN4",1,280,"同义",13203,"0.42=82/194","位于基因组单拷贝区域+DNA结构正常",23190,"2q21.3","NM_014607.3"]
["12309A(99)v27809",197,108,0.55,"12309A","UGGT1","chr2:128870808","c.672T>C(E6)","p.224,N>N","rs4662775",0.82,0.83,0.84,0.82,0.83,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"UGGT1",0.99,250,"同义",13203,"0.51=180/352","位于基因组单拷贝区域+DNA结构正常",56886,"2q14.3","NM_020120.3"]
["12309A(99)v9643",114,48,0.42,"12309A","UGT2A3","chr4:69795626","c.1489C>T(E6)","p.497,A>T","rs13128286",0.68,0.71,0.72,0.7,0.63,0.68,"杂合","无关","有rs号，MAF>=5%",18523138,{"$nulls":3},5,null,2,0,"UGT2A3",1,220,"错义",12210,"0.47=82/175","位于基因组多拷贝区域+DNA结构正常",79799,"4q13.2","NM_024743.3"]
["12309A(99)v24379",105,42,0.4,"12309A","ULK4","chr3:41960006","c.670T>C(E7)","p.224,I>V","rs1716975",0.68,0.82,0.86,0.79,0.78,0.82,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ULK4",1,250,"错义",12220,"0.43=73/171","位于基因组单拷贝区域+DNA结构正常",54986,"3p22.1","NM_017886.2"]
["12309A(99)v14426",18,9,0.5,"12309A","UMODL1","chr21:43557736","m.3963G>A(E22)","非编码区","rs220178",0.29,0.52,0.55,0.49,null,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"UMODL1",1,78,"非编码区",14200,"0.54=13/24","位于基因组单拷贝区域+DNA结构正常",89766,"21q22.3","NM_001004416.2"]
["12309A(99)v706",101,54,0.53,"12309A","UPF3A","chr13:115064423","c.955G>A(E8)","p.319,A>T","rs3752107",0.055,0.022,0.014,0.029,0.029,0.036,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UPF3A",0.98,130,"错义",12220,"0.45=79/177","位于基因组多拷贝区域+DNA结构正常",65110,"13q34","NM_023011.3"]
["12309A(99)v18107",3,3,1,"12309A","URB2","chr1:229795330","m.4997T>C(E10)","非编码区","rs3820361",0.41,0.42,0.41,0.42,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"URB2",1,110,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",9816,"1q42.13","NM_014777.2"]
["12309A(99)v17359",115,72,0.63,"12309A","USH2A","chr1:215848587","c.12666T>C(E63)","p.4222,T>T","rs2797234",0.3,0.3,0.34,0.27,0.28,0.32,"杂合","无关","有rs号，MAF>=5%",null,"尤塞氏综合症IIA型","AR",276901,5,3,10,2,"USH2A",1,200,"同义",13203,"0.61=143/233","位于基因组单拷贝区域+DNA结构正常",7399,"1q41","NM_206933.2"]
["12309A(99)v23366",91,91,1,"12309A","USP22","chr17:20911204","c.1209G>T(E9)","p.403,I>I","rs11541311",0.16,0.18,0.21,0.15,0.18,0.17,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"USP22",0.89,95,"同义",13203,"1.00=138/138","位于基因组单拷贝区域+DNA结构正常",23326,"17p11.2","NM_015276.1"]
["12309A(99)v10111",213,92,0.43,"12309A","USP40","chr2:234436069","c.1742C>T(E12)","p.581,R>Q","rs36075906",0.083,0.19,0.16,0.22,0.2,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"USP40",1,280,"错义",12210,"0.44=158/360","位于基因组单拷贝区域+DNA结构正常",55230,"2q37.1","NM_018218.2"]
["12309A(99)v19842",76,25,0.33,"12309A","USP8","chr15:50773787","c.1328A>G(E11)","p.443,D>G","rs3743044",0.05,0.053,0.043,0.063,0.045,0.077,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"USP8",1,220,"错义",12110,"0.32=40/126","位于基因组多拷贝区域+DNA结构正常",9101,"15q21.2","NM_001128610.1"]
["12309A(99)v23977",100,49,0.49,"12309A","UTP20","chr12:101764347","IVS50+6C>G","剪切位点","rs7977155",0.36,0.5,0.52,0.48,null,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,16,0,"UTP20",1,260,"剪切位点",16202,"0.53=92/172","位于基因组单拷贝区域+DNA结构正常",27340,"12q23","NM_014503.2"]
["12309A(99)v26762",10,10,1,"12309A","VASN","chr16:4431202","c.324A>G(E2)","p.108,T>T","rs758044",0.69,0.82,0.79,0.86,0.69,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"VASN",0.69,3.1,"同义",13203,"1.00=13/13","位于基因组单拷贝区域+DNA结构正常",114990,"16p13.3","NM_138440.2"]
["12309A(99)v19152",96,96,1,"12309A","VCAN","chr5:82833145","c.1362G>A(E7)","p.454,Q>Q","rs2548541",{"$nulls":4},0.59,0.63,"纯合","未知","预测范围之外的同义突变",null,"Wagner综合症","AD",143200,4,1,12,1,"VCAN",1,170,"同义",13303,"1.00=172/172","位于基因组单拷贝区域+DNA结构正常",1462,"5q14.3","NM_001164097.1"]
["12309A(99)v16389",1,1,1,"12309A","VGLL3","chr3:86990079","m.7440T>G(E4)","非编码区","rs13356",0.55,0.55,0.51,0.59,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"VGLL3",1,80,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",389136,"3p12.1","NM_016206.2"]
["12309A(99)v16793",108,49,0.45,"12309A","VPS25","chr17:40926695","c.231A>T(E3)","p.77,V>V","rs2305218",0.1,0.19,0.22,0.17,0.16,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"VPS25",1,160,"同义",13203,"0.46=91/200","位于基因组单拷贝区域+DNA结构正常",84313,"17q21.31","NM_032353.2"]
["12309A(99)v24697",59,57,0.97,"12309A","VSIG10L","chr19:51835892-51835893","c.2577(E10)至c.2576(E10):插入G","插入移码","rs397723022",1,1,1,1,0.19,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,6,0,"VSIG10L",0.79,47,"插入移码",2120,"0.97=63/65","位于基因组单拷贝区域+DNA结构正常",147645,"19q13.41","NM_001163922.1"]
["12309A(99)v23559",58,27,0.47,"12309A","VTI1B","chr14:68118132","c.669C>T(E6)","p.223,L>L","rs15493",0.14,0.22,0.25,0.19,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"VTI1B",1,130,"同义",13203,"0.44=40/91","位于基因组多拷贝区域+DNA结构正常",10490,"14q24.1","NM_006370.2"]
["12309A(99)v6289",229,228,1,"12309A","VWDE","chr7:12406989","c.2892C>G(E13)","p.964,K>N","rs6460939",0.52,0.51,0.47,0.55,0.47,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"VWDE",1,230,"错义",12210,"1.00=382/383","位于基因组单拷贝区域+DNA结构正常",221806,"7p21.3","NM_001135924.1"]
["12309A(99)v21516",66,21,0.32,"12309A","WBSCR17","chr7:70885883-70885884","IVS4-11至IVS4-10:插入T","非编码区","rs11455717",0.44,0.39,0.38,0.4,0.089,0.42,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"WBSCR17",1,130,"非编码区",2500,"0.30=22/73","位于基因组单拷贝区域+DNA结构正常",64409,"7q11.23","NM_022479.1"]
["12309A(99)v13521",16,11,0.69,"12309A","WDFY4","chr10:50025396","c.5447G>A(E32)","p.1816,R>Q","rs7097397",0.36,0.67,0.67,0.67,0.6,0.71,"杂合","无关","有rs号，MAF>=5%","20169177;24549174",{"$nulls":3},5,null,13,0,"WDFY4",1,94,"错义",12220,"0.67=16/24","位于基因组单拷贝区域+DNA结构正常",57705,"10q11.23","NM_020945.1"]
["12309A(99)v255",4,2,0.5,"12309A","WDR34","chr9:131397395","c.957C>T(E6)","p.319,L>L","rs75450756",0.014,0.087,0.09,0.083,0.077,0.07,"杂合","未知","预测范围之外的同义突变",null,"短肋骨胸廓发育不良-11伴或不伴多趾（SRTD11）","AR",615633,4,3,1,1,"WDR34",0.88,17,"同义",13103,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",89891,"9q34.11","NM_052844.3"]
["12309A(99)v22273",29,17,0.59,"12309A","WDR46","chr6:33256397","c.192G>A(E3)","p.64,S>S","rs9277965",0.13,0.12,0.11,0.13,0.12,0.091,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"WDR46",1,92,"同义",13203,"0.56=20/36","位于基因组单拷贝区域+DNA结构正常",9277,"6p21.3","NM_001164267.1"]
["12309A(99)v21531",140,67,0.48,"12309A","WDR60","chr7:158718995","IVS18+4C>T","剪切位点","rs2286113",0.053,0.14,0.14,0.14,0.12,0.14,"杂合","未知","剪切位点预测结果为无害",null,"短肋骨胸廓发育不良8伴或不伴多趾","AR",615503,4,3,5,1,"WDR60",1,190,"剪切位点",16302,"0.52=125/239","位于基因组单拷贝区域+DNA结构正常",55112,"7q36.3","NM_018051.4"]
["12309A(99)v19866",18,18,1,"12309A","WDR73","chr15:85188994","c.591T>C(E7)","p.197,S>S","rs2271432",0.9,0.95,0.93,0.97,0.92,0.95,"纯合","无关","有rs号，MAF>=5%",null,"Galloway-Mowat综合征","AR",251300,5,1,2,1,"WDR73",1,120,"同义",13203,"1.00=24/24","位于基因组单拷贝区域+DNA结构正常",84942,"15q25.2","NM_032856.2"]
["12309A(99)v27205",65,32,0.49,"12309A","WFDC8","chr20:44184498","c.287A>G(E4)","p.96,M>T","rs2272955",0.1,0.19,0.2,0.19,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WFDC8",1,210,"错义",12210,"0.51=54/105","位于基因组单拷贝区域+DNA结构正常",90199,"20q13.12","NM_130896.2"]
["12309A(99)v18035",21,9,0.43,"12309A","WFS1","chr4:6303354","c.1832G>A(E8)","p.611,R>H","rs734312",0.47,0.82,0.77,0.87,0.79,0.84,"杂合","无关","有rs号，MAF>=5%","18040659;18060660;18568334;18991055;19115052;19258739;19401414;19741467;21127832;23257691","常染色体显性遗传耳聋","AD",600965,5,1,13,5,"WFS1",0.97,38,"错义",12210,"0.42=15/36","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_001145853.1"]
["12309A(99)v18041",8,8,1,"12309A","WFS1","chr4:6303022","c.1500C>T(E8)","p.500,N>N","rs1801214",null,0.93,0.88,0.98,0.86,0.94,"纯合","未知","预测范围之外的同义突变","20581827;23462794","白内障41型","AD",116400,4,1,13,5,"WFS1",0.97,38,"同义",13303,"1.00=9/9","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_001145853.1"]
["12309A(99)v1644",15,10,0.67,"12309A","WNT10B","chr12:49359989","c.1059G>A(E5)","p.353,H>H","rs1051886",0.31,0.49,0.42,0.55,0.46,0.47,"杂合","无关","有rs号，MAF>=5%",19016593,"手裂-足裂综合征6","AR",225300,5,3,1,1,"WNT10B",1,35,"同义",13203,"0.69=11/16","位于基因组多拷贝区域+DNA结构正常",7480,"12q13","NM_003394.3"]
["12309A(99)v30281",11,11,1,"12309A","WNT7A","chr3:13896140","c.459A>G(E3)","p.153,S>S","rs3762719",0.25,0.55,0.58,0.52,0.47,0.55,"纯合","无关","有rs号，MAF>=5%",16826533,"Fuhrmann综合症","AR",228930,5,1,2,2,"WNT7A",1,31,"同义",13203,"1.00=22/22","位于基因组单拷贝区域+DNA结构正常",7476,"3p25","NM_004625.3"]
["12309A(99)v10153",79,32,0.41,"12309A","XCL1","chr1:168545758","m.48C>T(E1)","非编码区","rs28433337",0.4,0.34,0.33,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"XCL1",1,360,"非编码区",14200,"0.37=35/94","位于基因组多拷贝区域+DNA结构正常",6375,"1q23","NM_002995.2"]
["12309A(99)v31676",41,19,0.46,"12309A","XPO5","chr6:43492578","c.3303G>A(E30)","p.1101,Y>Y","rs2257082",0.32,0.64,0.6,0.67,0.62,0.63,"杂合","无关","有rs号，MAF>=5%","23549446;24769857",{"$nulls":3},5,null,1,0,"XPO5",0.99,220,"同义",13203,"0.47=26/55","位于基因组单拷贝区域+DNA结构正常",57510,"6p21.1","NM_020750.2"]
["12309A(99)v27600",23,13,0.57,"12309A","XYLT1","chr16:17228363","c.1994G>A(E9)","p.665,T>M","rs79030430",0.025,0.084,0.062,0.11,0.072,0.069,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"德比夸发育不良2型","AR",615777,3,3,2,2,"XYLT1",0.87,77,"错义",12120,"0.59=16/27","位于基因组单拷贝区域+DNA结构正常",64131,"16p12.3","NM_022166.3"]
["12309A(99)v17675",59,31,0.53,"12309A","YPEL1","chr22:22055394","m.716A>G(E5)","非编码区","rs1860",0.67,0.76,0.75,0.77,null,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"YPEL1",1,110,"非编码区",14200,"0.49=48/97","位于基因组单拷贝区域+DNA结构正常",29799,"22q11.2","NM_013313.3"]
["12309A(99)v20651",46,21,0.46,"12309A","ZBTB2","chr6:151686905","c.1296C>T(E3)","p.432,E>E","rs11155787",0.42,0.29,0.29,0.3,0.3,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZBTB2",1,110,"同义",13203,"0.46=35/76","位于基因组单拷贝区域+DNA结构正常",57621,"6q25.1","NM_020861.1"]
["12309A(99)v15703",46,46,1,"12309A","ZBTB49","chr4:4304337","c.774C>T(E3)","p.258,A>A","rs2916382",0.8,0.79,0.8,0.77,0.72,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZBTB49",1,120,"同义",13203,"1.00=70/70","位于基因组单拷贝区域+DNA结构正常",166793,"4p16.3","NM_145291.3"]
["12309A(99)v29918",1,1,1,"12309A","ZC3H7B","chr22:41753894","m.3611C>T(E23)","非编码区","rs5758310",0.2,0.5,0.49,0.5,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZC3H7B",0.97,34,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",23264,"22q13.2","NM_017590.4"]
["12309A(99)v21323",5,5,1,"12309A","ZDHHC12","chr9:131483749","c.515T>A(E5)","p.172,Q>L","rs2900268",1,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZDHHC12",1,17,"错义",12230,"1.00=6/6","位于基因组单拷贝区域+DNA结构正常",84885,"9q34.11","NM_032799.4"]
["12309A(99)v27629",13,4,0.31,"12309A","ZFAT","chr8:135614683","c.1243C>T(E7)","p.415,G>R",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",null,"自身免疫性甲状腺疾病,易感3型",null,608175,2,2,8,1,"ZFAT",1,95,"错义",12410,"0.28=5/18","位于基因组单拷贝区域+DNA结构正常",57623,"8q24.22","NM_001029939.3"]
["12309A(99)v13308",5,1,0.2,"12309A","ZFPM1","chr16:88552370","c.64A>G(E2)","p.22,R>G","rs3751673",0.53,0.5,0.48,0.52,0.4,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZFPM1",0.55,6.2,"错义",12220,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",161882,"16q24.2","NM_153813.2"]
["12309A(99)v144",67,67,1,"12309A","ZG16","chr16:29791561","c.325T>G(E4)","p.109,L>V","rs235637",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZG16",1,100,"错义",12230,"1.00=100/100","位于基因组单拷贝区域+DNA结构正常",653808,"16p11.2","NM_152338.3"]
["12309A(99)v12016",48,25,0.52,"12309A","ZKSCAN2","chr16:25255506","c.1581C>T(E6)","p.527,K>K","rs11642611",0.33,0.31,0.31,0.32,0.32,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZKSCAN2",1,140,"同义",13203,"0.53=40/75","位于基因组多拷贝区域+DNA结构正常",342357,"16p12.1","NM_001012981.4"]
["12309A(99)v4601",28,28,1,"12309A","ZNF117","chr7:64437820","m.3414G>C(E4)","非编码区","rs7790578",0.88,0.88,0.9,0.86,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF117",1,130,"非编码区",14200,"1.00=44/44","位于基因组多拷贝区域+DNA结构正常",51351,"7q11.21","NM_015852.3"]
["12309A(99)v2906",75,32,0.43,"12309A","ZNF160","chr19:53572917","c.870G>A(E7)","p.290,C>C","rs10407463",0.14,0.072,0.067,0.078,0.067,0.062,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF160",1,150,"同义",13203,"0.38=46/122","位于基因组多拷贝区域+DNA结构正常",90338,"19q13.42","NM_001102603.1"]
["12309A(99)v26803",73,38,0.52,"12309A","ZNF169","chr9:97055310","c.215C>T(E4)","p.72,P>L","rs1536690",0.18,0.058,0.043,0.073,0.06,0.054,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF169",1,100,"错义",12210,"0.47=68/144","位于基因组单拷贝区域+DNA结构正常",169841,"9q22.32","NM_194320.2"]
["12309A(99)v3798",73,73,1,"12309A","ZNF214","chr11:7022531","c.383A>T(E3)","p.128,L>H","rs1156525",null,0.7,0.71,0.69,0.7,0.75,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ZNF214",1,190,"错义",12320,"1.00=120/120","位于基因组单拷贝区域+DNA结构正常",7761,"11p15.4","NM_013249.2"]
["12309A(99)v30065",146,146,1,"12309A","ZNF229","chr19:44934489","c.467G>A(E6)","p.156,S>F","rs2571174",0.89,0.68,0.67,0.68,0.67,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF229",1,130,"错义",12220,"1.00=256/256","位于基因组单拷贝区域+DNA结构正常",7772,"19q13.31","NM_014518.2"]
["12309A(99)v8786",53,25,0.47,"12309A","ZNF24","chr18:32917644","c.659T>C(E4)","p.220,N>S","rs2032729",0.73,0.39,0.35,0.43,0.39,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF24",1,99,"错义",12220,"0.47=38/80","位于基因组单拷贝区域+DNA结构正常",7572,"18q12","NM_006965.2"]
["12309A(99)v28843",17,1,0.06,"12309A","ZNF281","chr1:200376038","m.2903G>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,1,0,"ZNF281",1,92,"非编码区",14400,"0.10=2/20","位于基因组单拷贝区域+DNA结构正常",23528,"1q32.1","NM_012482.3"]
["12309A(99)v24699",1,1,1,"12309A","ZNF320","chr19:53382804","m.2766G>T(E4)","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,"ZNF320",1,180,"非编码区",14400,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",162967,"19q13.41","NM_207333.2"]
["12309A(99)v25550",19,6,0.32,"12309A","ZNF354A","chr5:178138900-178138901","m.2177(E5)至m.2176(E5):插入T","非编码区","rs56328495",0.27,0.32,0.37,0.27,0.065,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"ZNF354A",1,180,"非编码区",2420,"0.30=6/20","位于基因组单拷贝区域+DNA结构正常",6940,"5q35.3","NM_005649.2"]
["12309A(99)v20104",60,30,0.5,"12309A","ZNF385D","chr3:21706369","IVS2+9G>A","非编码区","rs3821396",0.089,0.15,0.15,0.15,null,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF385D",1,150,"非编码区",16203,"0.51=45/88","位于基因组单拷贝区域+DNA结构正常",79750,"3p24.3","NM_024697.2"]
["12309A(99)v4443",20,20,1,"12309A","ZNF43","chr19:21990263","m.3259C>T(E7)","非编码区","rs6511296",0.94,0.99,0.99,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF43",1,130,"非编码区",14200,"1.00=25/25","位于基因组多拷贝区域+DNA结构正常",7594,"19p13.1-p12","NM_001256648.1"]
["12309A(99)v29811",46,46,1,"12309A","ZNF45","chr19:44417575","c.2013A>G(E10)","p.671,F>F","rs417699",0.54,0.83,0.84,0.82,0.81,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF45",1,140,"同义",13203,"1.00=79/79","位于基因组单拷贝区域+DNA结构正常",7596,"19q13.2","NM_003425.3"]
["12309A(99)v5085",70,70,1,"12309A","ZNF502","chr3:44763037","c.728A>C(E4)","p.243,E>A","rs7640654",0.54,0.87,0.87,0.86,0.83,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF502",1,150,"错义",12210,"1.00=102/102","位于基因组多拷贝区域+DNA结构正常",91392,"3p21.31","NM_001134440.1"]
["12309A(99)v14578",15,1,0.07,"12309A","ZNF526","chr19:42730067","c.1512A>G(E3)","p.504,S>S",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZNF526",0.95,36,"同义",13403,"0.21=6/29","位于基因组单拷贝区域+DNA结构正常",116115,"19q13.2","NM_133444.1"]
["12309A(99)v599",137,58,0.42,"12309A","ZNF534","chr19:52938417","c.226A>G(E3)","p.76,I>V","rs11084162",0.83,0.67,0.67,0.66,0.69,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF534",1,190,"错义",12220,"0.39=83/215","位于基因组多拷贝区域+DNA结构正常",147658,"19q13.41","NM_001143938.1"]
["12309A(99)v3061",116,49,0.42,"12309A","ZNF559-ZNF177","chr19:9492370","c.883A>T(E12)","p.295,I>F","rs2230752",0.54,0.44,0.42,0.46,0.36,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF559-ZNF177",1,190,"错义",12220,"0.43=82/192","位于基因组多拷贝区域+DNA结构正常",100529215,"19p","NM_001172650.2"]
["12309A(99)v20973",94,93,0.99,"12309A","ZNF595","chr4:86738","c.1343A>G(E4)","p.448,D>G","rs2353625",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF595",1,270,"错义",12230,"0.99=143/144","位于基因组多拷贝区域+DNA结构正常",152687,"4p16.3","NM_182524.2"]
["12309A(99)v14030",53,29,0.55,"12309A","ZNF618","chr9:116770785","c.609G>A(E8)","p.203,T>T","rs3748182",0.3,0.6,0.62,0.58,0.61,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF618",0.99,66,"同义",13203,"0.53=45/85","位于基因组单拷贝区域+DNA结构正常",114991,"9q32","NM_133374.2"]
["12309A(99)v7140",108,108,1,"12309A","ZNF626","chr19:20808149","c.534A>G(E4)","p.178,C>C","rs1991528",0.78,0.82,0.83,0.82,0.81,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"ZNF626",1,130,"同义",13203,"1.00=179/179","位于基因组多拷贝区域+DNA结构正常",199777,"19p12","NM_001076675.2"]
["12309A(99)v1962",65,16,0.25,"12309A","ZNF676","chr19:22363448","c.1071A>T(E3)","p.357,I>I","rs200452805",{"$nulls":4},0.26,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,11,0,"ZNF676",1,140,"同义",13303,"0.23=25/109","位于基因组多拷贝区域+DNA结构正常",163223,"19p12","NM_001001411.2"]
["12309A(99)v17624",36,36,1,"12309A","ZNF681","chr19:23926708","c.1644A>G(E4)","p.548,H>H","rs1852433",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF681",1,150,"同义",13203,"1.00=51/51","位于基因组多拷贝区域+DNA结构正常",148213,"19p12","NM_138286.2"]
["12309A(99)v18814",668,321,0.48,"12309A","ZNF705G","chr8:7215694","c.707A>G(E5)","p.236,V>A","rs9693671",{"$nulls":4},0.28,0.27,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"ZNF705G",0.99,910,"错义",12320,"0.49=625/1281","位于基因组多拷贝区域+DNA结构正常",100131980,"8p23.1","NM_001164457.1"]
["12309A(99)v10443",432,432,1,"12309A","ZNF717","chr3:75790513","c.191T>C(E4)","p.64,Y>C","rs149568659",2E-3,0,0,0,0.91,0,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,37,0,"ZNF717",1,430,"错义",12120,"1.00=706/706","位于基因组单拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223.1"]
["12309A(99)v1451",20,10,0.5,"12309A","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",1,50,"非编码区",14100,"0.60=18/30","位于基因组单拷贝区域+DNA结构正常",79755,"17q25.3","NM_024702.2"]
["12309A(99)v28812",7,6,0.86,"12309A","ZNF76","chr6:35260503","c.1104C>T(E10)","p.368,H>H","rs1557567",0.63,0.67,0.7,0.64,0.61,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF76",1,59,"同义",13203,"0.78=7/9","位于基因组单拷贝区域+DNA结构正常",7629,"6p21.31","NM_003427.3"]
["12309A(99)v28813",96,39,0.41,"12309A","ZNF76","chr6:35258465","c.597C>A(E7)","p.199,F>L","rs140038187",0.0026,0.0072,0,0.015,0.01,0.0095,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ZNF76",1,59,"错义",12110,"0.40=68/169","位于基因组单拷贝区域+DNA结构正常",7629,"6p21.31","NM_003427.3"]
["12309A(99)v29601",38,12,0.32,"12309A","ZNF761","chr19:53952901","IVS5+9A>G","非编码区","rs57791030",0.21,0.12,0.1,0.13,null,0.098,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"非编码区",16203,"0.28=13/47","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29602",2,2,1,"12309A","ZNF761","chr19:53948386","m.188A>G(E2)","非编码区","rs11670677",0.54,0.52,0.52,0.53,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29603",37,23,0.62,"12309A","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%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"非编码区",14200,"0.70=37/53","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29604",236,108,0.46,"12309A","ZNF761","chr19:53958263","c.503G>A(E6)","p.168,C>Y","rs1984432",0.74,0.57,0.59,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"错义",12230,"0.48=181/378","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29605",31,17,0.55,"12309A","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%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"非编码区",14200,"0.64=30/47","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29606",110,50,0.45,"12309A","ZNF761","chr19:53958798","c.1038G>T(E6)","p.346,S>S","rs72483991",0.054,0.16,0.17,0.14,0.11,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"同义",13203,"0.47=82/173","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29607",141,77,0.55,"12309A","ZNF761","chr19:53958126","c.366T>G(E6)","p.122,Y>X","rs2708743",0.64,0.53,0.54,0.53,0.52,0.55,"杂合","无关","理论上这种无义突变会导致蛋白翻译提前终止，高频MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"截断",15200,"0.55=115/210","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29608",165,75,0.45,"12309A","ZNF761","chr19:53958503","c.743G>T(E6)","p.248,W>L","rs117216773",0.0062,0.034,0.029,0.039,0.026,0.026,"杂合","未知","未知",{"$nulls":4},3,null,10,0,"ZNF761",1,210,"错义",12130,"0.47=119/255","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29609",32,25,0.78,"12309A","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",{"$nulls":4},4,null,10,0,"ZNF761",1,210,"缺失移码",2120,"0.75=27/36","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v29610",18,2,0.11,"12309A","ZNF761","chr19:53960688-53960692","m.3386(E6)至m.3390(E6):缺失CTTCA","非编码区","rs149377914",0.052,0.16,0.17,0.14,0.005,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,10,0,"ZNF761",1,210,"非编码区",2420,"0.13=3/23","位于基因组多拷贝区域+DNA结构正常",388561,"19q13.42","NM_001008401.3"]
["12309A(99)v18560",72,35,0.49,"12309A","ZNF763","chr19:12090765","m.2190C>A(E4)","非编码区","rs279142",0.86,0.7,0.74,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF763",1,320,"非编码区",14200,"0.48=54/112","位于基因组多拷贝区域+DNA结构正常",284390,"19p13.2","NM_001012753.1"]
["12309A(99)v4216",11,1,0.09,"12309A","ZNF764","chr16:30567358","c.381G>A(E3)","p.127,A>A",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZNF764",0.97,13,"同义",13403,"0.11=2/19","位于基因组多拷贝区域+DNA结构正常",92595,"16p11.2","NM_001172679.1"]
["12309A(99)v20861",29,18,0.62,"12309A","ZNF765","chr19:53914108","m.3423C>T(E4)","非编码区","rs2068630",0.76,0.68,0.7,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.61=25/41","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12309A(99)v20862",78,41,0.53,"12309A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"错义",12220,"0.46=58/126","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12309A(99)v20863",152,79,0.52,"12309A","ZNF765","chr19:53912242","c.1434G>A(E4)","p.478,T>T","rs10426347",0.77,0.67,0.7,0.65,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"同义",13203,"0.51=123/241","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12309A(99)v20864",38,23,0.61,"12309A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.66=33/50","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12309A(99)v20865",60,28,0.47,"12309A","ZNF765","chr19:53912548","m.1863T>C(E4)","非编码区","rs7246019",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.52=57/110","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12309A(99)v20866",55,29,0.53,"12309A","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%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.58=53/91","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12309A(99)v20867",69,22,0.32,"12309A","ZNF765","chr19:53912805-53912806","m.2120(E4)至m.2121(E4):插入AC","非编码区","rs35942807",null,0.67,0.7,0.65,0.11,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"ZNF765",1,260,"非编码区",2430,"0.30=27/90","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185.1"]
["12309A(99)v23394",106,49,0.46,"12309A","ZNF77","chr19:2939396","c.13T>C(E2)","p.5,I>V","rs12609268",0.18,0.39,0.38,0.39,0.35,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"错义",12220,"0.40=74/184","位于基因组单拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12309A(99)v23395",107,48,0.45,"12309A","ZNF77","chr19:2939401","c.8C>G(E2)","p.3,C>S","rs12610412",0.18,0.39,0.38,0.39,0.35,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"错义",12220,"0.40=76/188","位于基因组单拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12309A(99)v23396",78,43,0.55,"12309A","ZNF77","chr19:2939289","c.120A>C(E2)","p.40,L>L","rs12608916",0.18,0.39,0.38,0.39,0.36,0.023,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"同义",13203,"0.58=74/127","位于基因组单拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12309A(99)v23397",90,90,1,"12309A","ZNF77","chr19:2934282","c.843T>C(E4)","p.281,S>S","rs3746073",0.84,0.56,0.55,0.57,0.51,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"同义",13203,"1.00=166/166","位于基因组多拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12309A(99)v23398",47,47,1,"12309A","ZNF77","chr19:2933480","m.1776C>T(E4)","非编码区","rs3786948",0.67,0.56,0.55,0.57,null,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"非编码区",14200,"1.00=58/58","位于基因组单拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12309A(99)v23399",170,170,1,"12309A","ZNF77","chr19:2936623","c.210C>T(E3)","p.70,E>E","rs4807371",0.84,0.56,0.55,0.57,0.5,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"同义",13203,"1.00=273/274","位于基因组单拷贝区域+DNA结构正常",58492,"19p13.3","NM_021217.2"]
["12309A(99)v15513",42,21,0.5,"12309A","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%",{"$nulls":4},5,null,1,0,"ZNF770",1,130,"同义",13203,"0.50=27/54","位于基因组多拷贝区域+DNA结构正常",54989,"15q14","NM_014106.3"]
["12309A(99)v11286",111,111,1,"12309A","ZNF772","chr19:57985566","c.546G>C(E5)","p.182,C>W","rs2074060",0.68,0.69,0.68,0.71,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF772",1,160,"错义",12220,"1.00=167/167","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12309A(99)v11287",90,90,1,"12309A","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",{"$nulls":4},3,null,5,0,"ZNF772",1,160,"错义",12320,"1.00=132/132","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12309A(99)v11288",102,53,0.52,"12309A","ZNF772","chr19:57984918","c.1194A>G(E5)","p.398,S>S","rs2074058",0.41,0.63,0.6,0.66,0.64,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF772",1,160,"同义",13203,"0.52=86/165","位于基因组多拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12309A(99)v11289",9,4,0.44,"12309A","ZNF772","chr19:57984426","m.1947C>A(E5)","非编码区","rs10407042",0.41,0.63,0.6,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF772",1,160,"非编码区",14200,"0.40=4/10","位于基因组单拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12309A(99)v11290",1,1,1,"12309A","ZNF772","chr19:57981687","m.4686C>T(E5)","非编码区","rs56278798",0.21,0.038,0.043,0.034,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF772",1,160,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",400720,"19q13.43","NM_001024596.2"]
["12309A(99)v6631",2,1,0.5,"12309A","ZNF773","chr19:58019027","m.1704C>A(E4)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZNF773",1,220,"非编码区",14400,"0.67=2/3","位于基因组单拷贝区域+DNA结构正常",374928,"19q13.43","NM_198542.1"]
["12309A(99)v6632",37,13,0.35,"12309A","ZNF773","chr19:58018848","m.1525A>G(E4)","非编码区","rs2066936",0.44,0.62,0.58,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF773",1,220,"非编码区",14200,"0.34=15/44","位于基因组多拷贝区域+DNA结构正常",374928,"19q13.43","NM_198542.1"]
["12309A(99)v6633",4,2,0.5,"12309A","ZNF773","chr19:58011421","m.113G>T(E1)","非编码区","rs12463137",0.26,0.31,0.27,0.35,0.22,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF773",1,220,"非编码区",14200,"0.50=3/6","位于基因组单拷贝区域+DNA结构正常",374928,"19q13.43","NM_198542.1"]
["12309A(99)v20652",87,40,0.46,"12309A","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%",{"$nulls":4},5,null,2,0,"ZNF774",1,150,"错义",12220,"0.50=70/140","位于基因组单拷贝区域+DNA结构正常",342132,"15q26.1","NM_001004309.2"]
["12309A(99)v20653",53,53,1,"12309A","ZNF774","chr15:90903311","c.248A>G(E4)","p.83,N>S","rs2589957",0.69,0.84,0.86,0.83,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",18817904,{"$nulls":3},5,null,2,0,"ZNF774",1,150,"错义",12220,"1.00=81/81","位于基因组单拷贝区域+DNA结构正常",342132,"15q26.1","NM_001004309.2"]
["12309A(99)v1980",1,1,1,"12309A","ZNF775","chr7:150094851","c.1282A>G(E3)","p.428,T>A","rs13225910",0.38,0.45,0.46,0.44,0.32,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF775",0.71,2.4,"错义",12220,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",285971,"7q36.1","NM_173680.3"]
["12309A(99)v19833",8,6,0.75,"12309A","ZNF776","chr19:58266192","m.1957C>T(E3)","非编码区","rs12609667",0.3,0.45,0.47,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",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",284309,"19q13.43","NM_173632.3"]
["12309A(99)v19834",12,7,0.58,"12309A","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%",{"$nulls":4},5,null,2,0,"ZNF776",1,190,"非编码区",16203,"0.53=9/17","位于基因组单拷贝区域+DNA结构正常",284309,"19q13.43","NM_173632.3"]
["12309A(99)v22596",48,47,0.98,"12309A","ZNF777","chr7:149152906","c.208G>A(E2)","p.70,R>W","rs3735318",0.6,0.8,0.82,0.78,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF777",1,35,"错义",12220,"0.97=75/77","位于基因组单拷贝区域+DNA结构正常",27153,"7q36.1","NM_015694.2"]
["12309A(99)v22597",25,24,0.96,"12309A","ZNF777","chr7:149152770","c.344A>G(E2)","p.115,V>A","rs3735319",0.66,0.8,0.83,0.78,0.77,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF777",1,35,"错义",12220,"0.97=29/30","位于基因组单拷贝区域+DNA结构正常",27153,"7q36.1","NM_015694.2"]
["12309A(99)v22598",5,2,0.4,"12309A","ZNF777","chr7:149129829","c.1534C>T(E6)","p.512,A>T","rs17852167",0.15,0.14,0.13,0.16,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF777",1,35,"错义",12220,"0.38=3/8","位于基因组单拷贝区域+DNA结构正常",27153,"7q36.1","NM_015694.2"]
["12309A(99)v4956",21,10,0.48,"12309A","ZNF778","chr16:89287481","m.285C>A(E2)","非编码区","rs117976521",0.04,0.082,0.09,0.073,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"ZNF778",0.96,140,"非编码区",14100,"0.44=15/34","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4957",113,55,0.49,"12309A","ZNF778","chr16:89294439","c.1743G>T(E7)","p.581,Q>H","rs9921361",0.7,0.68,0.68,0.68,0.72,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"错义",12220,"0.50=89/178","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4958",56,20,0.36,"12309A","ZNF778","chr16:89293291","c.595G>A(E7)","p.199,V>M","rs117690401",0.041,0.082,0.09,0.073,0.079,0.085,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,11,0,"ZNF778",0.96,140,"错义",12120,"0.31=26/83","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4959",130,68,0.52,"12309A","ZNF778","chr16:89289624","c.177G>A(E4)","p.59,L>L","rs12920028",0.12,0.1,0.12,0.083,0.094,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.50=109/219","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4960",89,43,0.48,"12309A","ZNF778","chr16:89294697","c.2001C>T(E7)","p.667,H>H","rs60437616",0.7,0.68,0.68,0.68,0.7,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.50=73/145","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4961",99,50,0.51,"12309A","ZNF778","chr16:89294511","c.1815C>T(E7)","p.605,T>T","rs28638280",0.77,0.89,0.88,0.9,0.89,0.88,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.51=76/150","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4962",87,45,0.52,"12309A","ZNF778","chr16:89294184","c.1488G>A(E7)","p.496,A>A","rs4785627",0.77,0.89,0.88,0.9,0.9,0.88,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.53=67/126","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4963",7,5,0.71,"12309A","ZNF778","chr16:89295046","m.2689T>C(E7)","非编码区","rs12927047",0.23,0.11,0.12,0.1,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"非编码区",14200,"0.71=5/7","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4964",82,35,0.43,"12309A","ZNF778","chr16:89294798","c.2102A>G(E7)","p.701,Y>C","rs118093429",0.041,0.082,0.09,0.073,0.073,0.086,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,11,0,"ZNF778",0.96,140,"错义",12110,"0.42=50/118","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4965",116,58,0.5,"12309A","ZNF778","chr16:89294381","c.1685T>C(E7)","p.562,I>T","rs28415940",0.7,0.68,0.68,0.68,0.72,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"错义",12220,"0.48=86/179","位于基因组多拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v4966",62,29,0.47,"12309A","ZNF778","chr16:89293614","c.918A>G(E7)","p.306,E>E","rs4785626",0.77,0.89,0.88,0.9,0.89,0.88,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.45=42/94","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407.1"]
["12309A(99)v26978",63,63,1,"12309A","ZNF782","chr9:99581811","c.494C>T(E6)","p.165,R>H","rs4645656",0.27,0.32,0.29,0.35,0.36,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,140,"错义",12220,"0.99=89/90","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12309A(99)v26979",76,76,1,"12309A","ZNF782","chr9:99580834","c.1471A>C(E6)","p.491,S>A","rs75989782",0.033,0.096,0.081,0.11,0.12,0.11,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ZNF782",1,140,"错义",12110,"1.00=124/124","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12309A(99)v26980",57,57,1,"12309A","ZNF782","chr9:99581916","c.389C>G(E6)","p.130,R>P","rs7870376",0.22,0.32,0.29,0.35,0.35,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,140,"错义",12220,"1.00=94/94","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662.1"]
["12309A(99)v9671",85,36,0.42,"12309A","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%",{"$nulls":4},5,null,1,0,"ZNF790",1,170,"错义",12210,"0.39=49/126","位于基因组多拷贝区域+DNA结构正常",388536,"19q13.12","NM_001242800.1"]
["12309A(99)v13402",6,6,1,"12309A","ZNF792","chr19:35454605","m.349A>G(E1)","非编码区","rs2546029",0.64,0.65,0.67,0.63,null,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12309A(99)v13403",6,6,1,"12309A","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%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12309A(99)v13404",55,55,1,"12309A","ZNF792","chr19:35450229","c.530C>T(E4)","p.177,R>Q","rs2651079",0.63,0.64,0.66,0.62,0.63,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"错义",12220,"1.00=87/87","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12309A(99)v13405",56,56,1,"12309A","ZNF792","chr19:35449760","c.999G>C(E4)","p.333,T>T","rs2651080",0.32,0.19,0.18,0.21,0.24,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"同义",13203,"1.00=83/83","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12309A(99)v13406",75,75,1,"12309A","ZNF792","chr19:35449409","c.1350G>A(E4)","p.450,H>H","rs2651081",0.33,0.19,0.18,0.21,0.25,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"同义",13203,"1.00=124/124","位于基因组多拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12309A(99)v13407",31,31,1,"12309A","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%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"非编码区",14200,"1.00=47/47","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872.4"]
["12309A(99)v26207",1,1,1,"12309A","ZNF793","chr19:38031067","m.3949T>C(E8)","非编码区","rs4803215",0.37,0.6,0.62,0.59,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"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"]
["12309A(99)v83",154,81,0.53,"12309A","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%",{"$nulls":4},5,null,1,0,"ZNF799",1,300,"错义",12220,"0.53=128/243","位于基因组多拷贝区域+DNA结构正常",90576,"19p13.2","NM_001080821.2"]
["12309A(99)v4564",108,51,0.47,"12309A","ZNF8","chr19:58806083","c.909T>C(E4)","p.303,H>H","rs260471",0.38,0.48,0.41,0.54,0.5,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF8",1,83,"同义",13203,"0.50=92/183","位于基因组多拷贝区域+DNA结构正常",7554,"19q13.43","NM_021089.2"]
["12309A(99)v13153",75,40,0.53,"12309A","ZNF80","chr3:113955820","c.102G>C(E1)","p.34,S>S","rs3732780",0.31,0.38,0.42,0.34,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,150,"同义",13203,"0.53=60/113","位于基因组单拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136.3"]
["12309A(99)v13154",128,56,0.44,"12309A","ZNF80","chr3:113955320","c.602C>T(E1)","p.201,R>H","rs6438191",0.69,0.56,0.59,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,150,"错义",12220,"0.47=94/198","位于基因组多拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136.3"]
["12309A(99)v13155",115,57,0.5,"12309A","ZNF80","chr3:113955265","c.657G>A(E1)","p.219,C>C","rs6438190",0.69,0.56,0.59,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,150,"同义",13203,"0.48=96/202","位于基因组多拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136.3"]
["12309A(99)v13156",103,56,0.54,"12309A","ZNF80","chr3:113955164","c.758T>G(E1)","p.253,D>A","rs3732782",0.69,0.56,0.6,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",19217756,{"$nulls":3},5,null,4,0,"ZNF80",1,150,"错义",12220,"0.49=87/177","位于基因组单拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136.3"]
["12309A(99)v3636",34,33,0.97,"12309A","ZNF804A","chr2:185801917","c.1794A>G(E4)","p.598,K>K","rs728534",0.16,0.25,0.23,0.26,0.21,0.25,"纯合","无关","有rs号，MAF>=5%",14681825,{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"同义",13203,"0.98=43/44","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12309A(99)v3637",48,48,1,"12309A","ZNF804A","chr2:185801755","c.1632A>G(E4)","p.544,T>T","rs4667002",0.79,0.89,0.91,0.87,0.86,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF804A",1,160,"同义",13203,"1.00=71/71","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12309A(99)v3638",92,92,1,"12309A","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%",{"$nulls":4},5,null,8,0,"ZNF804A",1,160,"错义",12220,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12309A(99)v3639",40,16,0.4,"12309A","ZNF804A","chr2:185803364","c.3241C>G(E4)","p.1081,L>V","rs3731834",0.15,0.21,0.2,0.21,0.23,0.21,"杂合","无关","有rs号，MAF>=5%","14681825;22871346;23155182",{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"错义",12220,"0.40=21/53","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12309A(99)v3640",113,113,1,"12309A","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",{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"错义",12220,"1.00=179/179","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12309A(99)v3641",51,51,1,"12309A","ZNF804A","chr2:185801747","c.1624G>A(E4)","p.542,E>K","rs4667001",0.49,0.86,0.89,0.83,0.79,0.85,"纯合","无关","有rs号，MAF>=5%","19844207;23155182",{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"错义",12220,"1.00=73/73","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12309A(99)v3642",54,54,1,"12309A","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,{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"错义",12220,"1.00=71/71","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12309A(99)v3643",146,108,0.74,"12309A","ZNF804A","chr2:185802211-185802212","c.2088(E4)至c.2089(E4):插入ACA","插入非移码","rs5836928",0.49,0.86,0.89,0.83,0.12,0.85,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ZNF804A",1,160,"插入非移码",2221,"0.73=117/160","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250.1"]
["12309A(99)v26771",165,165,1,"12309A","ZNF804B","chr7:88964196","c.1900T>A(E4)","p.634,F>I","rs801840",0.52,0.68,0.67,0.68,0.6,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"错义",12220,"1.00=287/288","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12309A(99)v26772",154,153,0.99,"12309A","ZNF804B","chr7:88963039","c.743G>A(E4)","p.248,C>Y","rs1916830",0.15,0.45,0.44,0.47,0.43,0.46,"纯合","无关","有rs号，MAF>=5%",20547088,{"$nulls":3},5,null,4,0,"ZNF804B",1,170,"错义",12210,"1.00=293/294","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12309A(99)v26773",89,89,1,"12309A","ZNF804B","chr7:88964000","c.1704C>T(E4)","p.568,F>F","rs801839",0.51,0.68,0.67,0.68,0.59,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"同义",13203,"1.00=130/130","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12309A(99)v26774",169,169,1,"12309A","ZNF804B","chr7:88956699","c.291A>G(E3)","p.97,V>V","rs38971",0.31,0.69,0.67,0.7,0.67,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"同义",13203,"0.99=320/323","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646.2"]
["12309A(99)v26256",30,30,1,"12309A","ZNF808","chr19:53059235","m.3243T>G(E5)","非编码区","rs9676916",0.3,0.5,0.48,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF808",1,210,"非编码区",14200,"1.00=51/51","位于基因组多拷贝区域+DNA结构正常",388558,"19q13.41","NM_001039886.3"]
["12309A(99)v26257",41,2,0.05,"12309A","ZNF808","chr19:53059270-53059270","m.3278(E5):缺失A","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNF808",1,210,"非编码区",2440,"0.05=2/44","位于基因组多拷贝区域+DNA结构正常",388558,"19q13.41","NM_001039886.3"]
["12309A(99)v13835",153,73,0.48,"12309A","ZNF813","chr19:53993988","c.502A>T(E4)","p.168,I>F","rs12460628",0.092,0.11,0.095,0.13,0.098,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"错义",12210,"0.50=126/253","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13836",534,124,0.23,"12309A","ZNF813","chr19:53990021","IVS3+9A>G","非编码区","rs201888467",{"$nulls":5},0.097,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,13,0,"ZNF813",1,250,"非编码区",16303,"0.22=230/1044","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13837",555,124,0.22,"12309A","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",1,250,"同义",13303,"0.20=226/1118","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13838",126,126,1,"12309A","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%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"同义",13203,"1.00=195/195","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13839",33,15,0.45,"12309A","ZNF813","chr19:53995530","m.2172A>C(E4)","非编码区","rs10402859",0.093,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"非编码区",14200,"0.40=19/47","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13840",137,57,0.42,"12309A","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%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"错义",12220,"0.43=87/204","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13841",50,35,0.7,"12309A","ZNF813","chr19:53995750","m.2392C>T(E4)","非编码区","rs2708843",0.5,0.31,0.28,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"非编码区",14200,"0.72=53/74","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13842",492,125,0.25,"12309A","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",1,250,"同义",13303,"0.22=211/955","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13843",155,79,0.51,"12309A","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%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"错义",12210,"0.48=116/244","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13844",565,162,0.29,"12309A","ZNF813","chr19:53990002","c.132G>A(E3)","p.44,L>L","rs12974996",{"$nulls":4},0.26,0.28,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ZNF813",1,250,"同义",13303,"0.30=343/1147","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13845",29,16,0.55,"12309A","ZNF813","chr19:53996295","m.2937C>T(E4)","非编码区","rs10409961",0.091,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"非编码区",14200,"0.57=23/40","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13846",108,54,0.5,"12309A","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%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"错义",12220,"0.54=93/173","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v13847",46,21,0.46,"12309A","ZNF813","chr19:53996130-53996131","m.2772(E4)至m.2773(E4):插入AT","非编码区","rs58474905",0.31,0.24,0.2,0.28,0.034,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,13,0,"ZNF813",1,250,"非编码区",2420,"0.47=22/47","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301.3"]
["12309A(99)v3473",45,45,1,"12309A","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%",{"$nulls":4},5,null,4,0,"ZNF814",1,230,"非编码区",14200,"1.00=89/89","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12309A(99)v3474",131,65,0.5,"12309A","ZNF814","chr19:58385954","c.804T>C(E3)","p.268,K>K","rs10412929",0.31,0.45,0.47,0.43,0.45,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF814",1,230,"同义",13203,"0.50=87/175","位于基因组单拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12309A(99)v3475",211,69,0.33,"12309A","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",1,230,"错义",12320,"0.33=122/373","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12309A(99)v3476",183,77,0.42,"12309A","ZNF814","chr19:58384784-58384787","c.1974(E3)至c.1971(E3):缺失TCTT","缺失移码",{"$nulls":6},0.0011,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,4,0,"ZNF814",1,230,"缺失移码",2140,"0.41=82/198","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989.1"]
["12309A(99)v7985",54,26,0.48,"12309A","ZNF816","chr19:53452944","m.2435T>G(E5)","非编码区","rs1808106",0.45,0.32,0.33,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF816",1,200,"非编码区",14200,"0.42=32/76","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12309A(99)v7986",85,49,0.58,"12309A","ZNF816","chr19:53454789","c.239A>T(E5)","p.80,I>N","rs12459008",0.46,0.31,0.33,0.3,0.32,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF816",1,200,"错义",12220,"0.57=91/160","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12309A(99)v7987",101,40,0.4,"12309A","ZNF816","chr19:53454387","c.641G>C(E5)","p.214,S>C","rs57088011",0.05,0.082,0.062,0.1,0.072,0.054,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,8,0,"ZNF816",1,200,"错义",12110,"0.38=57/151","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12309A(99)v7988",45,26,0.58,"12309A","ZNF816","chr19:53452769","m.2610A>G(E5)","非编码区","rs1044467",0.45,0.32,0.33,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF816",1,200,"非编码区",14200,"0.55=42/76","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12309A(99)v7989",114,51,0.45,"12309A","ZNF816","chr19:53453777","c.1251C>T(E5)","p.417,K>K","rs8110062",{"$nulls":4},0.32,0.34,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"ZNF816",1,200,"同义",13303,"0.42=74/176","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12309A(99)v7990",59,28,0.47,"12309A","ZNF816","chr19:53452965","m.2414C>T(E5)","非编码区","rs3745177",0.35,0.37,0.38,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF816",1,200,"非编码区",14200,"0.41=35/86","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12309A(99)v7991",177,54,0.31,"12309A","ZNF816","chr19:53454475-53454476","c.553(E5)至c.552(E5):插入ACT","插入非移码","rs33949217",0.47,0.21,0.24,0.17,0.07,0.4,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ZNF816",1,200,"插入非移码",2222,"0.29=64/217","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665.2"]
["12309A(99)v7992",134,1,0.01,"12309A","ZNF816","chr19:53453306-53453306","c.1722(E5):缺失A","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,8,0,"ZNF816",1,200,"缺失移码",2140,"0.01=2/152","位于基因组多拷贝区域+简单重复结构",125893,"19q13.41","NM_001031665.2"]
["12309A(99)v19563",11,11,1,"12309A","ZNF823","chr19:11832283","m.2192A>G(E4)","非编码区","rs5851",0.52,0.48,0.5,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF823",1,210,"非编码区",14200,"1.00=11/11","位于基因组单拷贝区域+DNA结构正常",55552,"19p13.2","NM_001080493.2"]
["12309A(99)v3258",42,42,1,"12309A","ZNF830","chr17:33288882","c.297T>G(E1)","p.99,H>Q","rs931196",0.88,0.95,0.95,0.94,0.89,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF830",1,100,"错义",12220,"1.00=60/60","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857.3"]
["12309A(99)v22018",75,75,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ZNF831",0.96,46,"错义",12220,"1.00=107/107","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12309A(99)v22019",41,30,0.73,"12309A","ZNF831","chr20:57829821-57829822","m.5057(E5)至m.5058(E5):插入TT","非编码区","rs528101238",0.62,0.89,0.89,0.89,0.095,0.89,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ZNF831",0.96,46,"非编码区",2420,"0.70=37/53","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457.1"]
["12309A(99)v10264",3,3,1,"12309A","ZNF835","chr19:57175484","c.1083A>G(E2)","p.361,P>P","rs7250003",0.47,0.47,0.46,0.47,0.38,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF835",1,23,"同义",13203,"1.00=4/4","位于基因组多拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12309A(99)v10265",44,44,1,"12309A","ZNF835","chr19:57176482","c.85C>T(E2)","p.29,E>K","rs12462469",0.41,0.46,0.46,0.47,0.44,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF835",1,23,"错义",12220,"1.00=70/70","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12309A(99)v10266",24,24,1,"12309A","ZNF835","chr19:57176198","c.369T>G(E2)","p.123,S>S","rs8108756",0.47,0.46,0.45,0.47,0.41,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF835",1,23,"同义",13203,"1.00=36/36","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12309A(99)v10267",35,35,1,"12309A","ZNF835","chr19:57176304","c.263T>G(E2)","p.88,E>A","rs12460400",0.4,0.46,0.46,0.47,0.44,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF835",1,23,"错义",12220,"0.98=57/58","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850.2"]
["12309A(99)v28336",91,91,1,"12309A","ZNF836","chr19:52659991","c.945A>G(E5)","p.315,Y>Y","rs1821278",0.5,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"同义",13203,"1.00=140/140","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12309A(99)v28337",81,34,0.42,"12309A","ZNF836","chr19:52658510","c.2426T>C(E5)","p.809,N>S","rs8113504",0.29,0.4,0.44,0.37,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"错义",12220,"0.47=53/112","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12309A(99)v28338",66,36,0.55,"12309A","ZNF836","chr19:52660783","c.153A>G(E5)","p.51,P>P","rs17696575",0.2,0.19,0.17,0.21,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"同义",13203,"0.53=55/103","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12309A(99)v28339",71,71,1,"12309A","ZNF836","chr19:52660279","c.657C>T(E5)","p.219,M>I","rs1366245",0.48,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"错义",12220,"1.00=106/106","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657.1"]
["12309A(99)v1596",75,31,0.41,"12309A","ZNF839","chr14:102792631","c.250G>A(E2)","p.84,D>N","rs7158139",0.42,0.35,0.3,0.4,0.35,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF839",0.9,93,"错义",12220,"0.40=40/100","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12309A(99)v1597",52,26,0.5,"12309A","ZNF839","chr14:102808330","c.2250C>T(E8)","p.750,V>V","rs12590618",0.27,0.5,0.53,0.48,0.48,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF839",0.9,93,"同义",13203,"0.48=42/88","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12309A(99)v1598",1,1,1,"12309A","ZNF839","chr14:102785801","m.167G>T(E1)","非编码区","rs72635188",0.17,0.3,0.24,0.35,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF839",0.9,93,"非编码区",14200,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267828.1"]
["12309A(99)v1599",98,54,0.55,"12309A","ZNF839","chr14:102798055","c.940G>A(E3)","p.314,A>T","rs1543540",0.17,0.3,0.25,0.35,0.32,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF839",0.9,93,"错义",12220,"0.54=86/160","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12309A(99)v1600",133,60,0.45,"12309A","ZNF839","chr14:102792386","c.5T>C(E2)","p.2,L>P","rs7158731",0.42,0.35,0.3,0.4,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF839",0.9,93,"错义",12220,"0.42=94/226","位于基因组多拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12309A(99)v1601",6,2,0.33,"12309A","ZNF839","chr14:102808655","m.2925G>C(E8)","非编码区","rs11704",0.27,0.51,0.54,0.48,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF839",0.9,93,"非编码区",14200,"0.29=2/7","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_001267827.1"]
["12309A(99)v18176",90,88,0.98,"12309A","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,4,0,"ZNF84",1,320,"同义",13303,"0.99=138/140","位于基因组多拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12309A(99)v18177",1,1,1,"12309A","ZNF84","chr12:133637953","m.5003T>G(E5)","非编码区","rs61953746",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ZNF84",1,320,"非编码区",14300,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12309A(99)v18178",25,25,1,"12309A","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,4,0,"ZNF84",1,320,"非编码区",14300,"1.00=28/28","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12309A(99)v18179",59,23,0.39,"12309A","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,4,0,"ZNF84",1,320,"剪切位点",16302,"0.42=35/84","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_001127372.1"]
["12309A(99)v14484",173,1,0.01,"12309A","ZNF844","chr19:12187069-12187069","c.1134(E4):缺失T","缺失移码",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,1,0,"ZNF844",1,210,"缺失移码",2140,"0.01=2/186","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501.1"]
["12309A(99)v31494",159,78,0.49,"12309A","ZNF845","chr19:53854753","c.825T>C(E4)","p.275,D>D","rs187114554",0.0002,0.0024,0,0.0049,0.0069,0.0037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF845",1,210,"同义",13103,"0.47=126/268","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12309A(99)v31495",175,94,0.54,"12309A","ZNF845","chr19:53854397","c.469G>C(E4)","p.157,E>Q","rs10415799",0.34,0.45,0.48,0.43,0.49,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF845",1,210,"错义",12220,"0.53=152/288","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12309A(99)v31496",111,64,0.58,"12309A","ZNF845","chr19:53856349","c.2421A>T(E4)","p.807,E>D","rs55874600",0.2,0.091,0.09,0.092,0.11,0.094,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF845",1,210,"错义",12220,"0.57=109/191","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374.1"]
["12309A(99)v11085",28,9,0.32,"12309A","ZNF853","chr7:6656897","c.89A>G(E2)","p.30,Q>R","rs1806552",0.77,0.76,0.76,0.77,0.74,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF853",0.86,20,"错义",12220,"0.26=14/54","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12309A(99)v11086",43,24,0.56,"12309A","ZNF853","chr7:6661256","c.634C>G(E3)","p.212,Q>E","rs11971880",0.098,0.06,0.057,0.063,0.072,0.047,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF853",0.86,20,"错义",12220,"0.55=36/66","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12309A(99)v11087",24,7,0.29,"12309A","ZNF853","chr7:6656830","c.22G>A(E2)","p.8,G>R","rs2243563",0.74,0.76,0.76,0.76,0.72,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF853",0.86,20,"错义",12220,"0.28=11/40","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12309A(99)v11088",18,9,0.5,"12309A","ZNF853","chr7:6660790","c.168G>A(E3)","p.56,E>E","rs940873",0.41,0.55,0.54,0.55,0.49,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF853",0.86,20,"同义",13203,"0.50=11/22","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560.1"]
["12309A(99)v11777",123,48,0.39,"12309A","ZNF860","chr3:32031962","c.1391A>G(E2)","p.464,H>R","rs1808125",0.62,0.74,0.78,0.71,0.73,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12220,"0.37=67/182","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11778",60,25,0.42,"12309A","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%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"非编码区",14200,"0.40=33/82","位于基因组单拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11779",148,60,0.41,"12309A","ZNF860","chr3:32031643","c.1072A>G(E2)","p.358,T>A","rs13065048",0.47,0.42,0.43,0.41,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12220,"0.44=95/218","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11780",130,57,0.44,"12309A","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%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12220,"0.42=82/193","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11781",140,64,0.46,"12309A","ZNF860","chr3:32031024","c.453C>T(E2)","p.151,I>I","rs4449357",0.43,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"同义",13203,"0.47=97/208","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11782",134,59,0.44,"12309A","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%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12210,"0.43=84/196","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11783",142,60,0.42,"12309A","ZNF860","chr3:32031852","c.1281G>A(E2)","p.427,K>K","rs138977513",0.0074,0.036,0.029,0.044,0.04,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ZNF860",1,210,"同义",13103,"0.42=95/227","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11784",76,36,0.47,"12309A","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%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12220,"0.46=52/112","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11785",5,5,1,"12309A","ZNF860","chr3:32032743","m.2721T>G(E2)","非编码区","rs13094125",0.43,0.28,0.27,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"非编码区",14200,"1.00=5/5","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v11786",136,65,0.48,"12309A","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%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"同义",13203,"0.45=104/230","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674.2"]
["12309A(99)v10066",6,6,1,"12309A","ZNF862","chr7:149558409","c.2160G>C(E7)","p.720,L>L","rs2240361",0.38,0.33,0.33,0.33,0.24,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,66,"同义",13203,"1.00=7/7","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12309A(99)v10067",38,37,0.97,"12309A","ZNF862","chr7:149556518","c.1125C>T(E6)","p.375,A>A","rs4725833",0.53,0.37,0.34,0.4,0.33,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,66,"同义",13203,"0.97=60/62","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12309A(99)v10068",29,29,1,"12309A","ZNF862","chr7:149559273","c.3024C>T(E7)","p.1008,L>L","rs2074700",0.37,0.33,0.33,0.33,0.28,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,66,"同义",13203,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12309A(99)v10069",33,33,1,"12309A","ZNF862","chr7:149559465","c.3216C>T(E7)","p.1072,G>G","rs2074701",0.44,0.33,0.33,0.33,0.29,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,66,"同义",13203,"1.00=57/57","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220.1"]
["12309A(99)v26509",111,54,0.49,"12309A","ZNF880","chr19:52887382","c.549G>A(E4)","p.183,P>P","rs74256648",0.014,0.05,0.043,0.058,0.056,0.09,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZNF880",1,200,"同义",13103,"0.47=76/161","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12309A(99)v26510",257,1,0,"12309A","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,2,0,"ZNF880",1,200,"插入非移码",2232,"0.01=2/295","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434.1"]
["12309A(99)v12045",7,7,1,"12309A","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%",{"$nulls":4},5,null,3,0,"ZNF883",1,180,"非编码区",14200,"1.00=8/8","位于基因组单拷贝区域+DNA结构正常",169834,"9q32","NM_001101338.1"]
["12309A(99)v12046",9,9,1,"12309A","ZNF883","chr9:115760587","m.1192G>A(E5)","非编码区","rs7036363",0.28,0.4,0.39,0.42,null,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF883",1,180,"非编码区",14200,"1.00=10/10","位于基因组单拷贝区域+DNA结构正常",169834,"9q32","NM_001101338.1"]
["12309A(99)v12047",3,3,1,"12309A","ZNF883","chr9:115761049","m.730C>A(E5)","非编码区","rs1324934",0.6,0.83,0.83,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF883",1,180,"非编码区",14200,"1.00=3/3","位于基因组单拷贝区域+DNA结构正常",169834,"9q32","NM_001101338.1"]
["12309A(99)v10011",97,42,0.43,"12309A","ZNF90","chr19:20229486","c.1123G>A(E4)","p.375,G>S","rs1725935",0.23,0.5,0.45,0.56,0.55,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF90",1,190,"错义",12210,"0.41=62/152","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138.1"]
["12309A(99)v10012",101,39,0.39,"12309A","ZNF90","chr19:20228941","c.578A>G(E4)","p.193,K>R","rs61998186",0.12,0.34,0.37,0.32,0.28,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF90",1,190,"错义",12220,"0.34=50/148","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138.1"]
["12309A(99)v10013",29,19,0.66,"12309A","ZNF90","chr19:20230264","m.2040T>A(E4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF90",1,190,"非编码区",14200,"0.67=29/43","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138.1"]
["12309A(99)v27342",7,4,0.57,"12309A","ZNF91","chr19:23541485","m.4409G>A(E4)","非编码区","rs3745111",0.023,0.017,0.0095,0.024,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNF91",1,120,"非编码区",14100,"0.67=10/15","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430.2"]
["12309A(99)v27343",2,2,1,"12309A","ZNF91","chr19:23541372","m.4522A>T(E4)","非编码区","rs40561",0.62,0.81,0.8,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF91",1,120,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430.2"]
["12309A(99)v28688",24,11,0.46,"12309A","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%",{"$nulls":4},5,null,1,0,"ZNF92",1,170,"非编码区",14200,"0.41=13/32","位于基因组多拷贝区域+DNA结构正常",168374,"7q11.21","NM_007139.2"]
["12309A(99)v15217",140,70,0.5,"12309A","ZNF93","chr19:20044041","c.277G>T(E4)","p.93,D>Y","rs12151060",0.19,0.46,0.46,0.45,0.35,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF93",1,180,"错义",12210,"0.51=110/216","位于基因组多拷贝区域+DNA结构正常",81931,"19p12","NM_031218.3"]
["12309A(99)v23212",47,47,1,"12309A","ZNF98","chr19:22605103","m.46G>C(E1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"非编码区",14200,"1.00=74/74","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12309A(99)v23213",130,101,0.78,"12309A","ZNF98","chr19:22574818","c.1219T>C(E4)","p.407,K>E","rs201005223",0.34,0.44,0.47,0.41,0.36,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"错义",12210,"0.73=146/201","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12309A(99)v23214",39,39,1,"12309A","ZNF98","chr19:22605120","m.29G>T(E1)","非编码区","rs11669356",0.34,0.44,0.47,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"非编码区",14200,"1.00=57/57","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12309A(99)v23215",100,100,1,"12309A","ZNF98","chr19:22575488","c.549C>T(E4)","p.183,K>K","rs7247735",0.4,0.46,0.49,0.42,0.46,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"同义",13203,"1.00=154/154","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12309A(99)v23216",330,329,1,"12309A","ZNF98","chr19:22586192","c.153A>G(E2)","p.51,F>F","rs1368476",0.39,0.45,0.48,0.42,0.45,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"同义",13203,"0.99=492/496","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626.1"]
["12309A(99)v15562",102,50,0.49,"12309A","ZNFX1","chr20:47886684","c.1665G>A(E3)","p.555,Y>Y","rs57950",0.78,0.56,0.57,0.55,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNFX1",1,120,"同义",13203,"0.47=78/167","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035.2"]
["12309A(99)v15563",45,19,0.42,"12309A","ZNFX1","chr20:47865372","c.4189G>A(E14)","p.1397,L>L","rs238208",0.78,0.56,0.57,0.55,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNFX1",1,120,"同义",13203,"0.40=28/70","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035.2"]
["12309A(99)v669",17,17,1,"12309A","ZNHIT2","chr11:64884052","c.1074G>A(E1)","p.358,A>A","rs1546532",0.89,0.9,0.91,0.9,0.84,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNHIT2",0.49,6.5,"同义",13203,"1.00=21/21","位于基因组单拷贝区域+DNA结构正常",741,"11q13","NM_014205.2"]
["12309A(99)v670",5,1,0.2,"12309A","ZNHIT2","chr11:64884424","c.702G>T(E1)","p.234,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,2,0,"ZNHIT2",0.49,6.5,"错义",12420,"0.15=2/13","位于基因组单拷贝区域+DNA结构正常",741,"11q13","NM_014205.2"]
["12309A(99)v15344",17,9,0.53,"12309A","ZNHIT3","chr17:34842521","m.49A>G(E1)","非编码区","rs4796224",0.51,0.46,0.49,0.44,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT3",1,160,"非编码区",14200,"0.44=11/25","位于基因组单拷贝区域+DNA结构正常",9326,"17q12","NM_004773.2"]
["12309A(99)v8139",5,2,0.4,"12309A","ZNHIT6","chr1:86119421","m.1765T>G(E11)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNHIT6",1,300,"非编码区",14400,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",54680,"1p22.3","NM_001170670.1"]
["12309A(99)v8140",1,1,1,"12309A","ZNHIT6","chr1:86119060","m.2126G>A(E11)","非编码区","rs17128031",0.029,0.012,0.0095,0.015,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNHIT6",1,300,"非编码区",14100,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",54680,"1p22.3","NM_001170670.1"]
["12309A(99)v2508",7,1,0.14,"12309A","ZNRF3","chr22:29449763","m.2964C>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,2,0,"ZNRF3",0.85,36,"非编码区",14400,"0.25=2/8","位于基因组单拷贝区域+DNA结构正常",84133,"22q12.1","NM_001206998.1"]
["12309A(99)v2509",4,2,0.5,"12309A","ZNRF3","chr22:29446611","c.2442A>C(E8)","p.814,P>P","rs5997435",0.52,0.54,0.51,0.56,0.41,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNRF3",0.85,36,"同义",13203,"0.40=2/5","位于基因组单拷贝区域+DNA结构正常",84133,"22q12.1","NM_001206998.1"]
["12309A(99)v17184",44,26,0.59,"12309A","ZNRF4","chr19:5456450","c.948T>C(E1)","p.316,Y>Y","rs8111108",0.7,0.87,0.84,0.89,0.86,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNRF4",1,23,"同义",13203,"0.59=39/66","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710.3"]
["12309A(99)v28542",77,77,1,"12309A","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",1,69,"同义",13203,"1.00=134/134","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12309A(99)v28543",82,37,0.45,"12309A","ZP1","chr11:60638461","c.858C>T(E5)","p.286,F>F","rs10897122",0.31,0.66,0.69,0.64,0.61,0.65,"杂合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,3,4,1,"ZP1",1,69,"同义",13203,"0.41=58/142","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12309A(99)v28544",83,83,1,"12309A","ZP1","chr11:60637164","c.473C>T(E3)","p.158,T>I","rs489172",0.69,0.37,0.35,0.38,0.41,0.39,"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",1,69,"错义",12210,"1.00=127/127","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12309A(99)v28545",10,10,1,"12309A","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",1,69,"同义",13203,"1.00=12/12","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341.2"]
["12309A(99)v11991",119,54,0.45,"12309A","ZP2","chr16:21215672","c.747A>G(E8)","p.249,P>P","rs2075526",0.32,0.41,0.43,0.39,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",19855393,{"$nulls":3},5,null,2,0,"ZP2",1,200,"同义",13203,"0.50=94/187","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460.1"]
["12309A(99)v11992",113,61,0.54,"12309A","ZP2","chr16:21213575","c.1137G>A(E11)","p.379,D>D","rs182866863",0.0006,0.0048,0.0095,0,0.013,0.0049,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZP2",1,200,"同义",13103,"0.54=104/192","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460.1"]
["12309A(99)v21969",130,129,0.99,"12309A","ZP3","chr7:76069811","c.943T>C(E7)","p.315,S>P","rs2906999",0.59,0.57,0.54,0.61,0.59,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZP3",1,170,"错义",12220,"0.99=192/193","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_001110354.1"]
["12309A(99)v21970",8,5,0.62,"12309A","ZP3","chr7:76054372","c.91G>A(E1)","p.31,G>R","rs2286428",0.12,0.087,0.076,0.097,0.074,0.086,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZP3",1,170,"错义",12220,"0.50=5/10","位于基因组单拷贝区域+DNA结构正常",7784,"7q11.23","NM_001110354.1"]
["12309A(99)v21971",265,96,0.36,"12309A","ZP3","chr7:76069629","c.894G>A(E6)","p.298,K>K","rs73363163",{"$nulls":4},0.14,0.065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ZP3",1,170,"同义",13303,"0.33=159/476","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_001110354.1"]
["12309A(99)v21972",348,5,0.01,"12309A","ZP3","chr7:76069661-76069663","IVS6+3至IVS6+5:缺失GAG","非编码区","rs199893994",0.004,0.0096,0.0048,0.015,0,0,"杂合","无关","内含子突变",{"$nulls":4},5,null,4,0,"ZP3",1,170,"非编码区",2500,"0.01=5/406","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_001110354.1"]
["12309A(99)v15856",83,83,1,"12309A","ZPBP","chr7:50023122","IVS6-7C>T","剪切位点","rs988392",0.78,0.88,0.88,0.89,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZPBP",0.92,340,"剪切位点",16202,"1.00=130/130","位于基因组单拷贝区域+DNA结构正常",11055,"7p14.3","NM_001159878.1"]
["12309A(99)v4618",65,25,0.38,"12309A","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",{"$nulls":4},4,null,1,0,"ZPBP2",1,240,"同义",13103,"0.39=47/121","位于基因组单拷贝区域+DNA结构正常",124626,"17q12","NM_199321.2"]
["12309A(99)v21852",161,86,0.53,"12309A","ZRANB2","chr1:71537943","IVS5-5A>G","剪切位点","rs11209745",0.36,0.75,0.72,0.79,null,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZRANB2",1,300,"剪切位点",16202,"0.55=129/236","位于基因组单拷贝区域+DNA结构正常",9406,"1p31","NM_005455.4"]
["12309A(99)v4453",98,43,0.44,"12309A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"同义",13203,"0.42=64/154","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12309A(99)v4454",69,36,0.52,"12309A","ZRANB3","chr2:135965376","c.2637T>C(E19)","p.879,P>P","rs7578111",0.27,0.19,0.22,0.17,0.2,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"同义",13203,"0.53=53/100","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12309A(99)v4455",111,51,0.46,"12309A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"错义",12220,"0.44=87/197","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12309A(99)v4456",104,51,0.49,"12309A","ZRANB3","chr2:135988127","c.1910T>A(E13)","p.637,E>V","rs59900519",0.28,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"错义",12220,"0.52=84/163","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12309A(99)v4457",50,28,0.56,"12309A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"错义",12220,"0.60=54/90","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143.2"]
["12309A(99)v12948",152,151,0.99,"12309A","ZRSR2","chrX:15838366","c.864C>T(E10)","p.288,N>N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,140,"同义",13303,"0.99=303/305","位于基因组单拷贝区域+DNA结构正常",8233,"Xp22.1","NM_005089.3"]
["12309A(99)v21860",13,1,0.08,"12309A","ZSCAN1","chr19:58565306","c.1114G>A(E6)","p.372,A>T",{"$nulls":7},"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ZSCAN1",0.95,24,"错义",12420,"0.11=2/18","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572.3"]
["12309A(99)v21861",4,4,1,"12309A","ZSCAN1","chr19:58565431","m.1486C>T(E6)","非编码区","rs8104122",0.26,0.29,0.27,0.32,null,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN1",0.95,24,"非编码区",14200,"1.00=4/4","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572.3"]
["12309A(99)v1416",79,79,1,"12309A","ZSCAN12","chr6:28359170","c.897A>G(E4)","p.299,D>D","rs2859348",0.64,0.58,0.58,0.59,0.62,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN12",1,130,"同义",13203,"1.00=123/123","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12309A(99)v1417",89,48,0.54,"12309A","ZSCAN12","chr6:28359186","c.881C>T(E4)","p.294,R>K","rs2232430",0.11,0.26,0.32,0.19,0.27,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN12",1,130,"错义",12220,"0.61=83/137","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12309A(99)v1418",111,56,0.5,"12309A","ZSCAN12","chr6:28358335","c.1732G>C(E4)","p.578,R>G","rs1416918",0.39,0.25,0.2,0.3,0.24,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN12",1,130,"错义",12220,"0.48=86/181","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12309A(99)v1419",107,54,0.5,"12309A","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%",{"$nulls":4},5,null,4,0,"ZSCAN12",1,130,"错义",12210,"0.48=87/181","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391.1"]
["12309A(99)v6523",84,84,1,"12309A","ZSCAN2","chr15:85163998","c.572G>C(E3)","p.191,S>T","rs2044502",0.88,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,98,"错义",12220,"1.00=126/126","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_181877.3"]
["12309A(99)v6524",122,122,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,98,"错义",12220,"1.00=213/213","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_017894.5"]
["12309A(99)v3680",33,10,0.3,"12309A","ZSCAN20","chr1:33961147","m.3370T>G(E8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN20",1,110,"非编码区",14200,"0.30=14/46","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12309A(99)v3681",45,45,1,"12309A","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%",{"$nulls":4},5,null,3,0,"ZSCAN20",1,110,"错义",12230,"1.00=64/64","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12309A(99)v3682",147,67,0.46,"12309A","ZSCAN20","chr1:33960062","c.2118A>G(E8)","p.706,A>A","rs9943259",0.75,0.75,0.76,0.75,0.79,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN20",1,110,"同义",13203,"0.46=112/244","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238.3"]
["12309A(99)v18561",37,19,0.51,"12309A","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%",{"$nulls":4},5,null,2,0,"ZSCAN21",1,120,"同义",13203,"0.46=23/50","位于基因组单拷贝区域+DNA结构正常",7589,"7q22.1","NM_145914.2"]
["12309A(99)v18562",29,19,0.66,"12309A","ZSCAN21","chr7:99654600","m.115A>G(E2)","非编码区","rs11558475",0.31,0.49,0.5,0.48,null,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN21",1,120,"非编码区",14200,"0.61=25/41","位于基因组单拷贝区域+DNA结构正常",7589,"7q22.1","NM_145914.2"]
["12309A(99)v11359",9,4,0.44,"12309A","ZSCAN23","chr6:28401790","m.1803A>G(E4)","非编码区","rs16894108",0.38,0.25,0.2,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN23",1,110,"非编码区",14200,"0.44=4/9","位于基因组单拷贝区域+DNA结构正常",222696,"6p22.1","NM_001012455.1"]
["12309A(99)v20278",58,26,0.45,"12309A","ZSCAN30","chr18:32834186","c.713T>G(E4)","p.238,Q>P","rs2249769",0.11,0.23,0.25,0.21,0.21,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN30",1,120,"错义",12220,"0.43=36/83","位于基因组单拷贝区域+DNA结构正常",100101467,"18q12.2","NM_001112734.2"]
["12309A(99)v20279",82,35,0.43,"12309A","ZSCAN30","chr18:32834095","c.804T>C(E4)","p.268,T>T","rs2289037",0.072,0.23,0.25,0.21,0.21,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN30",1,120,"同义",13203,"0.35=44/126","位于基因组单拷贝区域+DNA结构正常",100101467,"18q12.2","NM_001112734.2"]
["12309A(99)v2353",38,19,0.5,"12309A","ZSCAN5B","chr19:56704399","c.23G>A(E1)","p.8,S>L","rs61745809",0.083,0.27,0.28,0.26,0.25,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"错义",12210,"0.41=24/59","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12309A(99)v2354",73,40,0.55,"12309A","ZSCAN5B","chr19:56704260","c.162C>T(E1)","p.54,E>E","rs61742908",0.084,0.28,0.28,0.28,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"同义",13203,"0.58=66/114","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12309A(99)v2355",105,51,0.49,"12309A","ZSCAN5B","chr19:56702323","c.622C>T(E3)","p.208,V>I","rs4801296",0.48,0.41,0.45,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"错义",12220,"0.52=104/201","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456.2"]
["12309A(99)v14408",149,63,0.42,"12309A","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%",{"$nulls":4},5,null,1,0,"ZSWIM2",1,240,"同义",13203,"0.46=109/238","位于基因组单拷贝区域+DNA结构正常",151112,"2q32.1","NM_182521.2"]
["12309A(99)v3631",33,16,0.48,"12309A","ZSWIM3","chr20:44507307","m.2355T>C(E2)","非编码区","rs17446511",0.088,0.089,0.086,0.092,null,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,69,"非编码区",14200,"0.51=22/43","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12309A(99)v3632",40,20,0.5,"12309A","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%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,69,"错义",12220,"0.48=33/69","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12309A(99)v3633",23,10,0.43,"12309A","ZSWIM3","chr20:44506661","c.1464G>A(E2)","p.488,P>P","rs17446462",0.088,0.089,0.086,0.092,0.041,0.082,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,69,"同义",13203,"0.46=13/28","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12309A(99)v3634",65,23,0.35,"12309A","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%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,69,"同义",13203,"0.37=41/110","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752.3"]
["12309A(99)v17962",9,1,0.11,"12309A","ZSWIM4","chr19:13923831","c.1033G>T(E6)","p.345,V>F","rs373955961",{"$nulls":4},0.0012,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ZSWIM4",0.83,18,"错义",12310,"0.32=6/19","位于基因组单拷贝区域+DNA结构正常",65249,"19p13.13","NM_023072.2"]
["12309A(99)v17963",34,16,0.47,"12309A","ZSWIM4","chr19:13910539","c.159G>A(E2)","p.53,E>E","rs28480458",0.09,0.022,0.014,0.029,0.047,0.032,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSWIM4",0.83,18,"同义",13203,"0.49=25/51","位于基因组单拷贝区域+DNA结构正常",65249,"19p13.13","NM_023072.2"]
["12309A(99)v7110",2,2,1,"12309A","ZSWIM5","chr1:45671966","c.57A>G(E1)","p.19,A>A","rs4454584",0.28,0.12,0.15,0.092,0.11,0.21,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM5",0.98,98,"同义",13203,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",57643,"1p34.1","NM_020883.1"]
["12309A(99)v21538",83,39,0.47,"12309A","ZSWIM6","chr5:60839907","c.3411C>A(E14)","p.1137,P>P","rs16892374",0.075,0.13,0.14,0.13,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"肢端额鼻骨发育不良","AD",603671,5,1,1,1,"ZSWIM6",0.81,150,"同义",13203,"0.43=60/139","位于基因组单拷贝区域+DNA结构正常",57688,"5q12.1","NM_020928.1"]
["12309A(99)v15051",14,7,0.5,"12309A","ZSWIM7","chr17:15881151","m.731C>G(E5)","非编码区","rs11654",0.54,0.25,0.25,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM7",1,220,"非编码区",14200,"0.50=8/16","位于基因组单拷贝区域+DNA结构正常",125150,"17p12","NM_001042697.1"]
["12309A(99)v12008",207,100,0.48,"12309A","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%",{"$nulls":4},5,null,2,0,"ZUFSP",1,280,"错义",12220,"0.44=162/365","位于基因组单拷贝区域+DNA结构正常",221302,"6q22.1","NM_145062.2"]
["12309A(99)v12009",150,75,0.5,"12309A","ZUFSP","chr6:116966901","c.1665A>C(E9)","p.555,G>G","rs374689423",0.0004,0,0,0,null,0.00081,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZUFSP",1,280,"同义",13103,"0.50=115/232","位于基因组单拷贝区域+DNA结构正常",221302,"6q22.1","NM_145062.2"]
["12309A(99)v28505",153,76,0.5,"12309A","ZWILCH","chr15:66832466","c.1605A>G(E17)","p.535,I>M","rs75532475",0.079,0.024,0.029,0.019,0.039,0.047,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZWILCH",1,290,"错义",12220,"0.51=142/278","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975.3"]
["12309A(99)v25586",81,81,1,"12309A","ZWINT","chr10:58118630","c.559T>C(E6)","p.187,R>G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,1,0,"ZWINT",1,91,"错义",12210,"1.00=139/139","位于基因组单拷贝区域+DNA结构正常",11130,"10q21-q22","NM_007057.3"]
["12309A(99)v15575",1,1,1,"12309A","ZXDB","chrX:57621456","m.3188C>A(E1)","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,"ZXDB",0.9,65,"非编码区",14400,"1.00=2/2","位于基因组单拷贝区域+DNA结构正常",158586,"Xp11.21","NM_007157.3"]
["12309A(99)v15576",90,89,0.99,"12309A","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",{"$nulls":4},4,null,2,0,"ZXDB",0.9,65,"同义",13303,"0.99=185/187","位于基因组多拷贝区域+DNA结构正常",158586,"Xp11.21","NM_007157.3"]
["12309A(99)v25598",1,1,1,"12309A","ZXDC","chr3:126156660","m.3189C>G(E10)","非编码区","rs7131",0.24,0.34,0.34,0.34,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZXDC",0.81,63,"非编码区",14200,"1.00=2/2","位于基因组多拷贝区域+DNA结构正常",79364,"3q21.3","NM_025112.4"]
["12309A(99)v25599",24,24,1,"12309A","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%",{"$nulls":4},5,null,2,0,"ZXDC",0.81,63,"剪切位点",16202,"1.00=37/37","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_001040653.2"]
["12309A(99)v29934",76,74,0.97,"12309A","ZYG11B","chr1:53250650","c.1194G>A(E5)","p.398,G>G","rs6588443",0.71,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZYG11B",0.99,200,"同义",13203,"0.98=124/126","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646.2"]
["12309A(99)v24528",63,24,0.38,"12309A","ZZEF1","chr17:3979949","c.3216G>A(E21)","p.1072,P>P","rs7207986",0.17,0.15,0.12,0.18,0.15,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"同义",13203,"0.40=39/98","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24529",77,36,0.47,"12309A","ZZEF1","chr17:3916823","c.8499G>A(E52)","p.2833,G>G","rs8075562",0.2,0.07,0.062,0.078,0.085,0.076,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"同义",13203,"0.43=50/116","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24530",46,23,0.5,"12309A","ZZEF1","chr17:3981290","c.2876A>G(E19)","p.959,V>A","rs78806449",0.081,0.07,0.062,0.078,0.08,0.075,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"错义",12220,"0.48=35/73","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24531",198,86,0.43,"12309A","ZZEF1","chr17:3947644","c.6040T>C(E38)","p.2014,I>V","rs781831",0.52,0.33,0.32,0.33,0.34,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"错义",12220,"0.42=150/356","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24532",54,54,1,"12309A","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%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"同义",13203,"0.99=82/83","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24533",191,78,0.41,"12309A","ZZEF1","chr17:3999199","c.1839C>T(E11)","p.613,A>A","rs12947597",0.15,0.15,0.12,0.18,0.16,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"同义",13203,"0.41=121/296","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24534",73,38,0.52,"12309A","ZZEF1","chr17:3926110","c.7105C>G(E44)","p.2369,E>Q","rs711177",0.14,0.07,0.062,0.078,0.087,0.078,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"错义",12220,"0.54=64/119","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24535",92,90,0.98,"12309A","ZZEF1","chr17:3953083","c.5934T>C(E37)","p.1978,P>P","rs781853",0.46,0.22,0.18,0.25,0.24,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"同义",13203,"0.99=134/136","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24536",83,83,1,"12309A","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,{"$nulls":3},5,null,10,0,"ZZEF1",0.96,140,"错义",12220,"0.99=122/123","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v24537",91,90,0.99,"12309A","ZZEF1","chr17:3966064","c.4866A>G(E30)","p.1622,C>C","rs781825",0.47,0.22,0.19,0.25,0.26,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"同义",13203,"0.99=159/161","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113.3"]
["12309A(99)v15544",35,10,0.29,"12309A","ZZZ3","chr1:78034156","IVS12-5C>A","剪切位点",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ZZZ3",1,210,"剪切位点",16402,"0.32=19/60","位于基因组单拷贝区域+DNA结构正常",26009,"1p31.1","NM_015534.4"]

{"sheet":"Result","index":1,"n_rows":31948,"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(12309n1A_99)","突变深度A(12309n1A_99)","突变率A(12309n1A_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(12309n1A_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"]
["12309A(99)v6771",5,5,1,{"$nulls":3},"A有","12309A","A1BG","chr19:58858232-58858232","m.1706(E8):缺失C","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,3,0,"A1BG",0.74,13,"非编码区",2420,"1.00=6/6",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"]
["12309A(99)v6769",14,14,1,{"$nulls":3},"A有","12309A","A1BG","chr19:58864479","c.155T>C(E3)","p.52,H>R","rs893184",0.85,0.92,0.94,0.89,0.82,0.91,"纯合","无关","有rs号，MAF>=5%",23690342,{"$nulls":3},5,null,3,0,"A1BG",0.74,13,"错义",12220,"1.00=21/21",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"]
["12309A(99)v6770",14,7,0.5,{"$nulls":3},"A有","12309A","A1BG","chr19:58864497","c.137G>A(E3)","p.46,T>M","rs201279119",0.0002,0,0,0,null,0,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"A1BG",0.74,13,"错义",12110,"0.59=13/22",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"]
["12309A(99)v8497",91,47,0.52,{"$nulls":3},"A有","12309A","A1CF","chr10:52566594","c.1656G>C(E14)","p.552,L>L","rs34190540",0.042,0.12,0.11,0.14,0.11,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"A1CF",1,250,"同义",13103,"0.50=100/200",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"]
["12309A(99)v16323",109,49,0.45,{"$nulls":3},"A有","12309A","A2M","chr12:9232268","c.2998T>C(E24)","p.1000,I>V","rs669",null,0.089,0.081,0.097,0.075,0.093,"杂合","未知","蛋白结构预测结果为容忍或无害","18191876;21122033;23186781;23238918;24756728;2581245;15611997;17974005;15489334;1707161","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,3,2,"A2M",1,240,"错义",12320,"0.46=90/195",null,2,"12p13.31","NM_000014.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16323",109,49,0.45,{"$nulls":3},"A有","12309A","A2M","chr12:9232268","c.2998T>C(E24)","p.1000,I>V","rs669",null,0.089,0.081,0.097,0.075,0.093,"杂合","未知","蛋白结构预测结果为容忍或无害","18191876;21122033;23186781;23238918;24756728;2581245;15611997;17974005;15489334;1707161","α2-巨球蛋白缺乏症","AD",614036,3,1,3,2,"A2M",1,240,"错义",12320,"0.46=90/195",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"]
["12309A(99)v16322",112,110,0.98,{"$nulls":3},"A有","12309A","A2M","chr12:9248233","c.1915T>C(E16)","p.639,N>D","rs226405",null,1,1,1,0.97,1,"纯合","未知","未知",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,3,2,"A2M",1,240,"错义",12330,"0.99=197/199",null,2,"12p13.31","NM_000014.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16322",112,110,0.98,{"$nulls":3},"A有","12309A","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",614036,3,1,3,2,"A2M",1,240,"错义",12330,"0.99=197/199",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"]
["12309A(99)v16324",98,47,0.48,{"$nulls":3},"A有","12309A","A2M","chr12:9268473","m.86A>C(E1)","非编码区","rs226380",null,0.12,0.11,0.13,0.14,0.13,"杂合","未知","UTR突变可能影响蛋白翻译",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,3,2,"A2M",1,240,"非编码区",14300,"0.45=71/158",null,2,"12p13.31","NM_000014.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16324",98,47,0.48,{"$nulls":3},"A有","12309A","A2M","chr12:9268473","m.86A>C(E1)","非编码区","rs226380",null,0.12,0.11,0.13,0.14,0.13,"杂合","未知","UTR突变可能影响蛋白翻译",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,3,2,"A2M",1,240,"非编码区",14300,"0.45=71/158",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"]
["12309A(99)v24294",59,30,0.51,{"$nulls":3},"A有","12309A","A2ML1","chr12:8995966","IVS12+9G>A","非编码区","rs7136813",null,0.1,0.081,0.12,null,0.12,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,8,0,"A2ML1",1,180,"非编码区",16303,"0.48=42/88",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"]
["12309A(99)v24292",117,117,1,{"$nulls":3},"A有","12309A","A2ML1","chr12:9004512","c.2367G>A(E19)","p.789,P>P","rs1860927",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"A2ML1",1,180,"同义",13303,"1.00=230/230",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"]
["12309A(99)v24291",85,85,1,{"$nulls":3},"A有","12309A","A2ML1","chr12:9004892","c.2550C>A(E20)","p.850,D>E","rs1860926",null,1,1,1,0.99,1,"纯合","未知","未知",{"$nulls":4},3,null,8,0,"A2ML1",1,180,"错义",12330,"1.00=136/136",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"]
["12309A(99)v24290",39,19,0.49,{"$nulls":3},"A有","12309A","A2ML1","chr12:9010671","c.3237G>A(E26)","p.1079,V>V","rs11612600",null,0.14,0.13,0.14,0.17,0.17,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"A2ML1",1,180,"同义",13303,"0.47=30/64",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"]
["12309A(99)v24295",192,92,0.48,{"$nulls":3},"A有","12309A","A2ML1","chr12:9013755","c.3364C>T(E28)","p.1122,R>W","rs1860967",null,0.83,0.83,0.83,0.77,0.78,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"A2ML1",1,180,"错义",12320,"0.47=169/360",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"]
["12309A(99)v24296",63,63,1,{"$nulls":3},"A有","12309A","A2ML1","chr12:9016573","c.3686A>G(E29)","p.1229,H>R","rs10219561",null,1,1,1,0.96,1,"纯合","未知","未知",{"$nulls":4},3,null,8,0,"A2ML1",1,180,"错义",12330,"1.00=94/94",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"]
["12309A(99)v24289",77,77,1,{"$nulls":3},"A有","12309A","A2ML1","chr12:9020489","c.3769A>G(E30)","p.1257,M>V","rs7308811",null,1,1,1,0.98,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"A2ML1",1,180,"错义",12320,"1.00=137/137",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"]
["12309A(99)v24293",92,91,0.99,{"$nulls":3},"A有","12309A","A2ML1","chr12:9020912","c.4020A>G(E31)","p.1340,Q>Q","rs1476910",null,0.48,0.48,0.48,0.5,0.5,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"A2ML1",1,180,"同义",13303,"0.99=159/160",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"]
["12309A(99)v16627",16,9,0.56,{"$nulls":3},"A有","12309A","A4GALT","chr22:43089055","c.903G>C(E3)","p.301,P>P","rs6002904",0.7,0.68,0.69,0.67,0.65,0.72,"杂合","无关","有rs号，MAF>=5%",null,"血型, P 系统",null,111400,5,2,1,1,"A4GALT",1,19,"同义",13203,"0.57=20/35",null,53947,"22q13.2","NM_017436.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v32",13,6,0.46,{"$nulls":3},"A有","12309A","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",{"$nulls":4},3,null,4,0,"A4GNT",1,120,"非编码区",14300,"0.46=6/13",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v33",46,16,0.35,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"A4GNT",1,120,"同义",13203,"0.28=21/76",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31",81,33,0.41,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"A4GNT",1,120,"错义",12220,"0.38=46/121",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v34",73,33,0.45,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"A4GNT",1,120,"同义",13203,"0.46=50/108",null,51146,"3p14.3","NM_016161.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18138",37,37,1,{"$nulls":3},"A有","12309A","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",1,92,"同义",13203,"1.00=56/56",null,8086,"12q13","NM_001173466.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6",15,6,0.4,{"$nulls":3},"A有","12309A","AACS","chr12:125621419","IVS17+9A>G","非编码区","rs41473449",0.37,0.55,0.57,0.53,null,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AACS",1,100,"非编码区",16203,"0.37=7/19",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"]
["12309A(99)v4",4,2,0.5,{"$nulls":3},"A有","12309A","AACS","chr12:125627053","m.2503C>T(E18)","非编码区","rs11058046",0.22,0.43,0.43,0.43,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AACS",1,100,"非编码区",14200,"0.50=2/4",null,65985,"12q24.31","NM_023928.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12432",132,60,0.45,{"$nulls":3},"A有","12309A","AADACL2","chr3:151463421","c.556G>T(E4)","p.186,A>S","rs1972977",0.71,0.62,0.68,0.57,0.61,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AADACL2",1,210,"错义",12220,"0.45=104/233",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"]
["12309A(99)v6508",42,20,0.48,{"$nulls":3},"A有","12309A","AADACL3","chr1:12776218","m.101A>C(E1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"非编码区",14200,"0.52=33/63",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"]
["12309A(99)v6507",84,45,0.54,{"$nulls":3},"A有","12309A","AADACL3","chr1:12779560","c.81T>C(E2)","p.27,D>D","rs3010876",0.85,0.79,0.8,0.79,0.79,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"同义",13203,"0.52=72/138",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"]
["12309A(99)v6506",85,43,0.51,{"$nulls":3},"A有","12309A","AADACL3","chr1:12779618","c.139T>C(E2)","p.47,S>P","rs3010877",0.85,0.8,0.8,0.79,0.81,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"错义",12220,"0.50=60/121",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"]
["12309A(99)v6505",125,61,0.49,{"$nulls":3},"A有","12309A","AADACL3","chr1:12785494","c.374G>T(E3)","p.125,C>F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"错义",12210,"0.50=101/201",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"]
["12309A(99)v6509",3,3,1,{"$nulls":3},"A有","12309A","AADACL3","chr1:12786070","m.1176A>G(E3)","非编码区","rs3000930",0.76,0.79,0.8,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"AADACL3",1,140,"非编码区",14200,"1.00=4/4",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"]
["12309A(99)v29512",173,172,0.99,{"$nulls":3},"A有","12309A","AADAT","chr4:170987636","IVS9-7A>G","剪切位点","rs1480544",0.74,1,1,1,0.96,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AADAT",1,300,"剪切位点",16202,"1.00=318/319",null,51166,"4q33","NM_016228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29513",219,63,0.29,{"$nulls":3},"A有","12309A","AADAT","chr4:170991812-170991815","IVS5-9至IVS5-12:缺失GGTT","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"杂合","无关","内含子突变",{"$nulls":4},5,null,3,0,"AADAT",1,300,"非编码区",2500,"0.28=71/256",null,51166,"4q33","NM_016228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29511",117,55,0.47,{"$nulls":3},"A有","12309A","AADAT","chr4:170994350","c.591A>G(E5)","p.197,V>V","rs12640652",0.0094,0.053,0.048,0.058,0.04,0.033,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"AADAT",1,300,"同义",13103,"0.43=96/222",null,51166,"4q33","NM_016228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30686",6,3,0.5,{"$nulls":3},"A有","12309A","AAGAB","chr15:67494922","m.1290T>C(E10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,null,null,"杂合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,2,1,"AAGAB",1,300,"非编码区",14200,"0.50=3/6",null,79719,"15q22.33-q23","NM_024666.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30687",197,95,0.48,{"$nulls":3},"A有","12309A","AAGAB","chr15:67528374","c.394T>G(E4)","p.132,I>L","rs7173826",0.36,0.63,0.63,0.64,0.62,0.66,"杂合","无关","有rs号，MAF>=5%",null,"IA型点状掌跖角皮病","AD",148600,5,1,2,1,"AAGAB",1,300,"错义",12220,"0.46=161/351",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"]
["12309A(99)v19767",14,13,0.93,{"$nulls":3},"A有","12309A","AAK1","chr2:69741609","c.1770C>T(E13)","p.590,E>E","rs2276689",0.32,0.52,0.53,0.51,0.45,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAK1",1,180,"同义",13203,"0.95=20/21",null,22848,"2p14","NM_014911.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19766",65,64,0.98,{"$nulls":3},"A有","12309A","AAK1","chr2:69741854","c.1525T>G(E13)","p.509,K>Q","rs6715776",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAK1",1,180,"错义",12230,"0.99=103/104",null,22848,"2p14","NM_014911.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9055",229,106,0.46,{"$nulls":3},"A有","12309A","AAMDC","chr11:77553638","c.96T>C(E2)","p.32,G>G","rs585721",0.39,0.31,0.34,0.27,0.24,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAMDC",1,270,"同义",13203,"0.47=183/393",{"$nulls":3},"NM_024684.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9056",131,69,0.53,{"$nulls":3},"A有","12309A","AAMDC","chr11:77583266","c.274G>A(E4)","p.92,V>M","rs2186564",0.14,0.2,0.2,0.2,0.17,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AAMDC",1,270,"错义",12220,"0.53=130/244",{"$nulls":3},"NM_024684.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30114",12,12,1,{"$nulls":3},"A有","12309A","AAMP","chr2:219129060","m.1585A>G(E11)","非编码区","rs2382816",0.96,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AAMP",1,62,"非编码区",14200,"1.00=13/13",null,14,"2q35","NM_001087.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23847",38,38,1,{"$nulls":3},"A有","12309A","AARS","chr16:70287177","c.2715A>G(E20)","p.905,V>V","rs4081753",0.88,0.96,0.97,0.95,0.94,0.97,"纯合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,140,"同义",13203,"1.00=55/55",null,16,"16q22","NM_001605.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23848",40,18,0.45,{"$nulls":3},"A有","12309A","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",1,140,"同义",13203,"0.52=37/71",null,16,"16q22","NM_001605.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14150",3,3,1,{"$nulls":3},"A有","12309A","AARS2","chr6:44268135","m.3110C>T(E22)","非编码区","rs325009",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,5,2,"AARS2",1,53,"非编码区",14200,"1.00=4/4",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14150",3,3,1,{"$nulls":3},"A有","12309A","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",1,53,"非编码区",14200,"1.00=4/4",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"]
["12309A(99)v14148",15,15,1,{"$nulls":3},"A有","12309A","AARS2","chr6:44268371","c.2871T>C(E22)","p.957,S>S","rs325008",null,1,1,1,0.92,1,"纯合","未知","预测范围之外的同义突变",null,"联合氧化磷酸化缺陷8型","AR",614096,4,1,5,2,"AARS2",1,53,"同义",13303,"1.00=25/25",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14148",15,15,1,{"$nulls":3},"A有","12309A","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",1,53,"同义",13303,"1.00=25/25",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"]
["12309A(99)v14152",14,8,0.57,{"$nulls":3},"A有","12309A","AARS2","chr6:44269193","c.2607C>T(E20)","p.869,K>K","rs498512",0.58,0.44,0.46,0.43,0.42,0.42,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,5,2,"AARS2",1,53,"同义",13203,"0.55=11/20",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14152",14,8,0.57,{"$nulls":3},"A有","12309A","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",1,53,"同义",13203,"0.55=11/20",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"]
["12309A(99)v14151",11,11,1,{"$nulls":3},"A有","12309A","AARS2","chr6:44275011","c.1015T>C(E6)","p.339,I>V","rs324136",0.89,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,5,2,"AARS2",1,53,"错义",12230,"1.00=13/13",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14151",11,11,1,{"$nulls":3},"A有","12309A","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",1,53,"错义",12230,"1.00=13/13",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"]
["12309A(99)v14149",15,6,0.4,{"$nulls":3},"A有","12309A","AARS2","chr6:44280812","IVS1+6C>T","剪切位点","rs167772",0.45,0.43,0.44,0.42,0.31,0.39,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,5,2,"AARS2",1,53,"剪切位点",16202,"0.41=9/22",null,57505,"6p21.1","NM_020745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14149",15,6,0.4,{"$nulls":3},"A有","12309A","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",1,53,"剪切位点",16202,"0.41=9/22",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"]
["12309A(99)v6378",85,85,1,{"$nulls":3},"A有","12309A","AARSD1","chr17:41116234","c.60G>A(E2)","p.20,S>S","rs690941",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AARSD1",1,160,"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"]
["12309A(99)v12378",129,67,0.52,{"$nulls":3},"A有","12309A","AASDH","chr4:57204777","c.3088A>C(E15)","p.1030,Y>D","rs8340",0.23,0.19,0.17,0.2,0.14,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.48=107/225",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12382",155,77,0.5,{"$nulls":3},"A有","12309A","AASDH","chr4:57211352","c.2593T>C(E12)","p.865,T>A","rs12498340",0.22,0.19,0.17,0.2,0.16,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.45=126/282",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12384",155,74,0.48,{"$nulls":3},"A有","12309A","AASDH","chr4:57219592","c.1554G>A(E9)","p.518,D>D","rs6554348",0.65,0.54,0.53,0.55,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"同义",13203,"0.43=114/266",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12380",162,77,0.48,{"$nulls":3},"A有","12309A","AASDH","chr4:57219613","c.1533C>T(E9)","p.511,P>P","rs17086696",0.23,0.19,0.17,0.21,0.13,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"同义",13203,"0.43=122/285",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12381",99,50,0.51,{"$nulls":3},"A有","12309A","AASDH","chr4:57221348","c.1103T>C(E6)","p.368,K>R","rs3796543",0.065,0.18,0.21,0.16,0.2,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.47=68/145",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12383",154,68,0.44,{"$nulls":3},"A有","12309A","AASDH","chr4:57248716","c.278G>C(E3)","p.93,P>R","rs34228795",0.065,0.18,0.21,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12210,"0.44=126/286",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12379",155,83,0.54,{"$nulls":3},"A有","12309A","AASDH","chr4:57250285","c.181T>C(E2)","p.61,I>V","rs34543011",0.065,0.18,0.21,0.16,0.21,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AASDH",1,220,"错义",12220,"0.54=136/251",null,132949,"4q12","NM_181806.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24102",3,3,1,{"$nulls":3},"A有","12309A","AATK","chr17:79095144","c.2592G>A(E11)","p.864,A>A","rs8073904",0.81,0.86,0.87,0.85,0.71,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AATK",0.86,5.2,"同义",13203,"1.00=5/5",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"]
["12309A(99)v30429",107,58,0.54,{"$nulls":3},"A有","12309A","ABAT","chr16:8839954","c.167A>G(E3)","p.56,Q>R","rs1731017",0.5,0.6,0.57,0.63,0.58,0.59,"杂合","无关","有rs号，MAF>=5%",15830322,"GABA转氨酶缺乏症","AR",613163,5,3,5,1,"ABAT",1,130,"错义",12220,"0.53=103/193",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30426",189,97,0.51,{"$nulls":3},"A有","12309A","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",613163,5,3,5,1,"ABAT",1,130,"剪切位点",16202,"0.49=167/344",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"]
["12309A(99)v30425",22,9,0.41,{"$nulls":3},"A有","12309A","ABAT","chr16:8868776","c.984C>A(E13)","p.328,V>V","rs1641022",0.32,0.44,0.42,0.47,0.41,0.4,"杂合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,3,5,1,"ABAT",1,130,"同义",13203,"0.40=12/30",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30427",49,49,1,{"$nulls":3},"A有","12309A","ABAT","chr16:8873456","IVS15+9T>C","非编码区","rs1079348",0.35,0.33,0.35,0.32,0.34,0.36,"纯合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,1,5,1,"ABAT",1,130,"非编码区",16203,"1.00=71/71",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"]
["12309A(99)v30428",2,2,1,{"$nulls":3},"A有","12309A","ABAT","chr16:8875545","m.2699G>C(E16)","非编码区","rs737695",0.32,0.32,0.33,0.32,null,null,"纯合","无关","有rs号，MAF>=5%",null,"GABA转氨酶缺乏症","AR",613163,5,1,5,1,"ABAT",1,130,"非编码区",14200,"1.00=2/2",null,18,"16p13.2","NM_000663.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28256",132,132,1,{"$nulls":3},"A有","12309A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"纯合","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",1,170,"错义",12220,"1.00=216/216",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"]
["12309A(99)v28256",132,132,1,{"$nulls":3},"A有","12309A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"纯合","无关","有rs号，MAF>=5%","12600718;17324514;17430597;17510949;17553166;19041386;19606474;21839797;22668585;23111454","丹吉尔病","AR",205400,5,1,4,3,"ABCA1",1,170,"错义",12220,"1.00=216/216",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28256",132,132,1,{"$nulls":3},"A有","12309A","ABCA1","chr9:107562804","c.4760T>C(E35)","p.1587,K>R","rs2230808",0.54,0.56,0.53,0.6,0.6,0.59,"纯合","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,604091,5,1,4,3,"ABCA1",1,170,"错义",12220,"1.00=216/216",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"]
["12309A(99)v28254",25,11,0.44,{"$nulls":3},"A有","12309A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,4,3,"ABCA1",1,170,"同义",13203,"0.41=14/34",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28254",25,11,0.44,{"$nulls":3},"A有","12309A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,3,4,3,"ABCA1",1,170,"同义",13203,"0.41=14/34",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"]
["12309A(99)v28254",25,11,0.44,{"$nulls":3},"A有","12309A","ABCA1","chr9:107568705","c.4281C>T(E31)","p.1427,T>T","rs2066716",0.13,0.28,0.26,0.3,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"原发性α低脂蛋白血症",null,604091,5,2,4,3,"ABCA1",1,170,"同义",13203,"0.41=14/34",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28255",40,20,0.5,{"$nulls":3},"A有","12309A","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",1,170,"非编码区",14200,"0.51=28/55",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"]
["12309A(99)v28255",40,20,0.5,{"$nulls":3},"A有","12309A","ABCA1","chr9:107665978","m.387C>G(E2)","非编码区","rs1800978",0.14,0.17,0.2,0.14,0.12,0.23,"杂合","无关","有rs号，MAF>=5%",null,"丹吉尔病","AR",205400,5,3,4,3,"ABCA1",1,170,"非编码区",14200,"0.51=28/55",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28255",40,20,0.5,{"$nulls":3},"A有","12309A","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",1,170,"非编码区",14200,"0.51=28/55",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"]
["12309A(99)v28257",19,11,0.58,{"$nulls":3},"A有","12309A","ABCA1","chr9:107666035-107666036","m.330(E2)至m.329(E2):插入C","非编码区","rs1799777",0.14,0.17,0.2,0.14,0.075,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"家族性高胆固醇血症","AD",143890,4,1,4,3,"ABCA1",1,170,"非编码区",2420,"0.60=12/20",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28257",19,11,0.58,{"$nulls":3},"A有","12309A","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",1,170,"非编码区",2420,"0.60=12/20",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"]
["12309A(99)v28257",19,11,0.58,{"$nulls":3},"A有","12309A","ABCA1","chr9:107666035-107666036","m.330(E2)至m.329(E2):插入C","非编码区","rs1799777",0.14,0.17,0.2,0.14,0.075,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"原发性α低脂蛋白血症",null,604091,4,2,4,3,"ABCA1",1,170,"非编码区",2420,"0.60=12/20",null,19,"9q31.1","NM_005502.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26145",2,2,1,{"$nulls":3},"A有","12309A","ABCA10","chr17:67144628","m.5851C>A(E40)","非编码区","rs1974576",0.71,0.47,0.51,0.44,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"非编码区",14200,"1.00=3/3",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26143",3,2,0.67,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"非编码区",14200,"0.75=3/4",null,10349,"17q24","NM_080282.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26146",82,32,0.39,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"非编码区",14200,"0.39=51/131",null,10349,"17q24","NM_080282.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26144",181,96,0.53,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"错义",12220,"0.53=160/300",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26147",63,25,0.4,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"剪切位点",16202,"0.36=39/108",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26141",85,44,0.52,{"$nulls":3},"A有","12309A","ABCA10","chr17:67210992","c.859T>C(E10)","p.287,I>V","rs11657804",0.26,0.25,0.29,0.21,0.18,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"错义",12220,"0.55=70/128",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26148",135,69,0.51,{"$nulls":3},"A有","12309A","ABCA10","chr17:67212031","c.783A>G(E9)","p.261,Y>Y","rs11077414",null,0.31,0.36,0.27,0.27,0.3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ABCA10",1,300,"同义",13303,"0.50=120/239",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26142",166,62,0.37,{"$nulls":3},"A有","12309A","ABCA10","chr17:67212423","c.607G>A(E8)","p.203,P>S","rs9909216",0.58,0.31,0.36,0.27,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"错义",12220,"0.37=120/324",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26140",129,59,0.46,{"$nulls":3},"A有","12309A","ABCA10","chr17:67215712","c.504C>T(E7)","p.168,V>V","rs12941264",0.6,0.31,0.36,0.26,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ABCA10",1,300,"同义",13203,"0.47=100/212",null,10349,"17q24","NM_080282.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25670",89,89,1,{"$nulls":3},"A有","12309A","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",242500,5,1,4,2,"ABCA12",1,280,"同义",13203,"1.00=139/139",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25670",89,89,1,{"$nulls":3},"A有","12309A","ABCA12","chr2:215865575","c.2079T>C(E14)","p.693,P>P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,1,4,2,"ABCA12",1,280,"同义",13203,"1.00=139/139",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25669",69,69,1,{"$nulls":3},"A有","12309A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,1,4,2,"ABCA12",1,280,"错义",12220,"1.00=101/101",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25669",69,69,1,{"$nulls":3},"A有","12309A","ABCA12","chr2:215876166","c.1375A>T(E9)","p.459,S>T","rs7560008",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,1,4,2,"ABCA12",1,280,"错义",12220,"1.00=101/101",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25668",273,273,1,{"$nulls":3},"A有","12309A","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",242500,5,1,4,2,"ABCA12",1,280,"同义",13203,"1.00=519/520",null,26154,"2q34","NM_173076.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25668",273,273,1,{"$nulls":3},"A有","12309A","ABCA12","chr2:215901774","c.888C>T(E8)","p.296,V>V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"纯合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,1,4,2,"ABCA12",1,280,"同义",13203,"1.00=519/520",null,26154,"2q34","NM_173076.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25671",31,23,0.74,{"$nulls":3},"A有","12309A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4B型/丑胎（丑角样鱼鳞病）","AR",242500,5,3,4,2,"ABCA12",1,280,"非编码区",2600,"0.76=25/33",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25671",31,23,0.74,{"$nulls":3},"A有","12309A","ABCA12","chr2:215929029-215929029","UTR:缺失A","非编码区","rs10707207",0.62,0.68,0.73,0.64,0.46,null,"杂合","无关","不在基因上的突变",null,"常染色体隐性遗传先天性鱼鳞病4A型/板层性鱼鳞病2型","AR",601277,5,3,4,2,"ABCA12",1,280,"非编码区",2600,"0.76=25/33",null,26154,"2q34","NM_015657.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19921",114,53,0.46,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"剪切位点",16202,"0.50=92/185",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19932",58,27,0.47,{"$nulls":3},"A有","12309A","ABCA13","chr7:48280454","IVS9-10G>A","剪切位点","rs62449168",0.12,0.2,0.15,0.25,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"剪切位点",16202,"0.40=36/89",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19935",104,52,0.5,{"$nulls":3},"A有","12309A","ABCA13","chr7:48287840","c.1664G>A(E14)","p.555,R>H","rs2361519",0.2,0.19,0.14,0.25,0.21,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"错义",12220,"0.53=89/167",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19930",198,94,0.47,{"$nulls":3},"A有","12309A","ABCA13","chr7:48311485","c.2222A>C(E17)","p.741,E>A","rs117022697",0.013,0.091,0.067,0.12,0.094,0.087,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,20,0,"ABCA13",1,190,"错义",12110,"0.47=173/369",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19929",165,84,0.51,{"$nulls":3},"A有","12309A","ABCA13","chr7:48311563","c.2300T>G(E17)","p.767,I>S","rs17712293",0.19,0.25,0.19,0.31,0.28,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"错义",12210,"0.49=121/245",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19928",86,40,0.47,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"错义",12210,"0.41=53/130",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19918",58,27,0.47,{"$nulls":3},"A有","12309A","ABCA13","chr7:48313949","c.4686C>T(E17)","p.1562,Y>Y","rs6583483",0.13,0.2,0.14,0.25,0.19,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"同义",13203,"0.46=37/80",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19923",123,59,0.48,{"$nulls":3},"A有","12309A","ABCA13","chr7:48314279","c.5016G>A(E17)","p.1672,K>K","rs6955212",0.19,0.25,0.19,0.31,0.28,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"同义",13203,"0.50=97/194",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19920",58,22,0.38,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"同义",13203,"0.36=34/95",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19925",87,42,0.48,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"错义",12220,"0.48=61/127",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19934",54,29,0.54,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"剪切位点",16202,"0.53=45/85",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19924",110,54,0.49,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"错义",12220,"0.49=88/180",null,154664,"7p12.3","NM_152701.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19936",168,77,0.46,{"$nulls":3},"A有","12309A","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,20,0,"ABCA13",1,190,"同义",13403,"0.45=129/287",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"]
["12309A(99)v19927",191,94,0.49,{"$nulls":3},"A有","12309A","ABCA13","chr7:48336844","c.9135C>T(E22)","p.3045,L>L","rs6583546",0.77,0.99,1,0.98,0.99,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"同义",13203,"0.45=151/335",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"]
["12309A(99)v19919",42,21,0.5,{"$nulls":3},"A有","12309A","ABCA13","chr7:48450157","c.12111T>C(E40)","p.4037,A>A","rs17548783",0.46,0.64,0.59,0.69,0.61,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"同义",13203,"0.56=41/73",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"]
["12309A(99)v19926",52,23,0.44,{"$nulls":3},"A有","12309A","ABCA13","chr7:48467355","IVS41-8T>C","剪切位点","rs13233421",0.28,0.37,0.37,0.36,null,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"剪切位点",16202,"0.45=38/85",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"]
["12309A(99)v19917",83,38,0.46,{"$nulls":3},"A有","12309A","ABCA13","chr7:48506566","c.12829A>G(E44)","p.4277,N>D","rs4917152",0.23,0.22,0.18,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"错义",12220,"0.42=55/130",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"]
["12309A(99)v19933",99,47,0.47,{"$nulls":3},"A有","12309A","ABCA13","chr7:48506642","c.12905A>G(E44)","p.4302,Q>R","rs4917153",0.23,0.22,0.18,0.27,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"错义",12220,"0.50=78/157",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"]
["12309A(99)v19922",76,76,1,{"$nulls":3},"A有","12309A","ABCA13","chr7:48545976","c.13336A>G(E49)","p.4446,K>E","rs6583448",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"错义",12220,"1.00=107/107",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"]
["12309A(99)v19931",137,64,0.47,{"$nulls":3},"A有","12309A","ABCA13","chr7:48682996","IVS60+7C>G","非编码区","rs28610321",0.17,0.26,0.24,0.28,null,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"ABCA13",1,190,"非编码区",16203,"0.46=102/221",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"]
["12309A(99)v11476",25,25,1,{"$nulls":3},"A有","12309A","ABCA2","chr9:139904037","c.6690A>G(E44)","p.2230,L>L","rs7048567",0.72,0.83,0.83,0.84,0.81,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA2",0.92,14,"同义",13203,"1.00=38/38",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11472",14,14,1,{"$nulls":3},"A有","12309A","ABCA2","chr9:139906359","c.5472G>A(E35)","p.1824,H>H","rs2271862",0.69,0.83,0.82,0.84,0.76,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABCA2",0.92,14,"同义",13203,"1.00=14/14",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11478",7,4,0.57,{"$nulls":3},"A有","12309A","ABCA2","chr9:139907219","c.5026C>T(E31)","p.1676,G>S","rs184422644",2.8E-3,0.012,0.014,0.0097,0.011,0.0095,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"ABCA2",0.92,14,"错义",12110,"0.67=6/9",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11475",7,3,0.43,{"$nulls":3},"A有","12309A","ABCA2","chr9:139908442","c.4289A>G(E28)","p.1430,L>P",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"ABCA2",0.92,14,"错义",12410,"0.55=6/11",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11477",15,15,1,{"$nulls":3},"A有","12309A","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",{"$nulls":3},5,null,6,0,"ABCA2",0.92,14,"同义",13203,"1.00=31/31",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11474",13,13,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ABCA2",0.92,14,"错义",12230,"1.00=19/19",null,20,"9q34","NM_001606.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15968",38,38,1,{"$nulls":3},"A有","12309A","ABCA3","chr16:2331430","c.4116A>G(E27)","p.1372,S>S","rs149532",0.9,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",18317237,"肺泡蛋白沉着症3型","AR",610921,5,1,2,1,"ABCA3",1,49,"同义",13203,"1.00=64/64",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"]
["12309A(99)v15969",24,11,0.46,{"$nulls":3},"A有","12309A","ABCA3","chr16:2367336","c.1059G>A(E10)","p.353,F>F","rs13332514",0.19,0.38,0.39,0.37,0.35,0.38,"杂合","无关","有rs号，MAF>=5%","18246475;18317237","肺泡蛋白沉着症3型","AR",610921,5,3,2,1,"ABCA3",1,49,"同义",13203,"0.39=17/44",null,21,"16p13.3","NM_001089.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14981",130,130,1,{"$nulls":3},"A有","12309A","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",153800,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14981",130,130,1,{"$nulls":3},"A有","12309A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14981",130,130,1,{"$nulls":3},"A有","12309A","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,601718,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14981",130,130,1,{"$nulls":3},"A有","12309A","ABCA4","chr1:94471075","c.6069A>G(E44)","p.2023,I>I","rs1762114",0.77,0.88,0.88,0.89,0.85,0.89,"纯合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14981",130,130,1,{"$nulls":3},"A有","12309A","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",613341,5,1,3,5,"ABCA4",1,140,"同义",13203,"1.00=233/234",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14983",34,19,0.56,{"$nulls":3},"A有","12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"年龄相关性黄斑变性2型","AD",153800,5,1,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14983",34,19,0.56,{"$nulls":3},"A有","12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"斯特格病变1型","AR",248200,5,3,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14983",34,19,0.56,{"$nulls":3},"A有","12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性19型-AR",null,601718,5,2,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14983",34,19,0.56,{"$nulls":3},"A有","12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良3型",null,604116,5,2,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14983",34,19,0.56,{"$nulls":3},"A有","12309A","ABCA4","chr1:94564483","c.635C>T(E6)","p.212,R>H","rs6657239",0.053,0.053,0.052,0.053,0.066,0.064,"杂合","无关","有rs号，MAF>=5%",null,"青少年型视网膜色素变性-AR","AR",613341,5,3,3,5,"ABCA4",1,140,"错义",12210,"0.53=27/51",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14982",140,138,0.99,{"$nulls":3},"A有","12309A","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",153800,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14982",140,138,0.99,{"$nulls":3},"A有","12309A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"斯特格病变1型","AR",248200,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14982",140,138,0.99,{"$nulls":3},"A有","12309A","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,601718,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14982",140,138,0.99,{"$nulls":3},"A有","12309A","ABCA4","chr1:94578548","c.141T>C(E2)","p.47,P>P","rs4847281",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",19339744,"视锥-视杆细胞营养不良3型",null,604116,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14982",140,138,0.99,{"$nulls":3},"A有","12309A","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",613341,5,1,3,5,"ABCA4",1,140,"同义",13203,"0.99=237/240",null,24,"1p22","NM_000350.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19637",126,54,0.43,{"$nulls":3},"A有","12309A","ABCA5","chr17:67257281","c.3549C>T(E25)","p.1183,L>L","rs78349182",0.03,0.0048,0,0.0097,0.0052,0.0041,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ABCA5",1,310,"同义",13103,"0.38=87/230",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"]
["12309A(99)v19638",171,168,0.98,{"$nulls":3},"A有","12309A","ABCA5","chr17:67260926","c.3265A>G(E23)","p.1089,L>L","rs12449649",0.38,0.39,0.42,0.35,0.29,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCA5",1,310,"同义",13203,"0.99=298/302",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"]
["12309A(99)v19636",170,170,1,{"$nulls":3},"A有","12309A","ABCA5","chr17:67273882","c.2494C>A(E18)","p.832,A>S","rs536009",0.8,0.95,0.95,0.96,0.89,0.95,"纯合","无关","有rs号，MAF>=5%",24957074,{"$nulls":3},5,null,3,0,"ABCA5",1,310,"错义",12220,"1.00=318/318",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"]
["12309A(99)v2338",135,67,0.5,{"$nulls":3},"A有","12309A","ABCA6","chr17:67075072","m.5071G>A(E39)","非编码区","rs2302290",0.61,0.27,0.32,0.21,null,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,290,"非编码区",14200,"0.48=103/216",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"]
["12309A(99)v2337",142,63,0.44,{"$nulls":3},"A有","12309A","ABCA6","chr17:67081830","c.3965T>C(E31)","p.1322,N>S","rs2302134",0.46,0.32,0.37,0.28,0.25,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,290,"错义",12210,"0.41=113/279",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"]
["12309A(99)v2336",284,284,1,{"$nulls":3},"A有","12309A","ABCA6","chr17:67101718","c.2625C>T(E20)","p.875,M>I","rs7212506",0.75,0.85,0.86,0.84,0.86,0.85,"纯合","无关","有rs号，MAF>=5%",17486107,{"$nulls":3},5,null,4,0,"ABCA6",1,290,"错义",12220,"1.00=488/490",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"]
["12309A(99)v2339",197,93,0.47,{"$nulls":3},"A有","12309A","ABCA6","chr17:67125840","c.844C>T(E7)","p.282,V>I","rs4968839",0.56,0.45,0.5,0.41,0.37,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCA6",1,290,"错义",12220,"0.47=175/374",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"]
["12309A(99)v23318",13,13,1,{"$nulls":3},"A有","12309A","ABCA7","chr19:1042809","c.563A>G(E7)","p.188,E>G","rs3764645",0.4,0.51,0.51,0.51,0.47,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"错义",12210,"1.00=19/19",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"]
["12309A(99)v23321",4,4,1,{"$nulls":3},"A有","12309A","ABCA7","chr19:1044753","IVS11+10T>C","非编码区","rs3764648",{"$nulls":5},0.69,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,14,0,"ABCA7",0.96,28,"非编码区",16303,"1.00=5/5",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23315",3,3,1,{"$nulls":3},"A有","12309A","ABCA7","chr19:1047002","c.1824A>G(E14)","p.608,A>A","rs3752234",0.58,0.8,0.81,0.78,0.63,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"1.00=3/3",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23320",8,8,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"1.00=8/8",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23313",54,54,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"非编码区",16203,"1.00=96/96",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23316",5,5,1,{"$nulls":3},"A有","12309A","ABCA7","chr19:1049305","c.2421C>A(E18)","p.807,V>V","rs4147915",0.2,0.46,0.47,0.46,0.37,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"1.00=9/9",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23312",11,6,0.55,{"$nulls":3},"A有","12309A","ABCA7","chr19:1051214","c.2745A>G(E20)","p.915,V>V","rs3752240",0.29,0.14,0.13,0.14,0.12,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"0.57=8/14",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23323",16,9,0.56,{"$nulls":3},"A有","12309A","ABCA7","chr19:1054060","c.3528A>G(E26)","p.1176,L>L","rs3752243",0.54,0.42,0.42,0.41,0.36,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"0.54=15/28",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23314",14,6,0.43,{"$nulls":3},"A有","12309A","ABCA7","chr19:1055191","c.4046G>A(E30)","p.1349,R>Q","rs3745842",0.39,0.39,0.39,0.39,0.29,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"错义",12220,"0.35=8/23",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23317",14,4,0.29,{"$nulls":3},"A有","12309A","ABCA7","chr19:1056065","c.4239A>G(E32)","p.1413,R>R","rs881768",0.44,0.39,0.4,0.39,0.34,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"剪切位点",13202,"0.29=5/17",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23322",28,28,1,{"$nulls":3},"A有","12309A","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",{"$nulls":3},5,null,14,0,"ABCA7",0.96,28,"错义",12220,"1.00=39/39",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23311",2,2,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"同义",13203,"1.00=3/3",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23310",5,3,0.6,{"$nulls":3},"A有","12309A","ABCA7","chr19:1065445","m.6693C>T(E47)","非编码区",{"$nulls":6},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,14,0,"ABCA7",0.96,28,"非编码区",14400,"0.71=5/7",null,10347,"19p13.3","NM_019112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23319",2,2,1,{"$nulls":3},"A有","12309A","ABCA7","chr19:1065563","m.6811G>C(E47)","非编码区","rs2242437",0.6,0.53,0.53,0.53,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ABCA7",0.96,28,"非编码区",14200,"1.00=2/2",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"]
["12309A(99)v5077",114,114,1,{"$nulls":3},"A有","12309A","ABCA8","chr17:66872802","c.4122G>C(E32)","p.1374,P>P","rs1481",0.81,0.99,1,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCA8",1,290,"同义",13203,"1.00=172/172",null,10351,"17q24","NM_007168.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11213",20,7,0.35,{"$nulls":3},"A有","12309A","ABCA9","chr17:66971879","m.5195T>C(E39)","非编码区","rs11077859",0.41,0.31,0.3,0.32,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCA9",1,280,"非编码区",14200,"0.35=8/23",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"]
["12309A(99)v11215",26,12,0.46,{"$nulls":3},"A有","12309A","ABCA9","chr17:66971898","m.5176C>T(E39)","非编码区","rs11077860",0.41,0.31,0.3,0.32,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCA9",1,280,"非编码区",14200,"0.45=13/29",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"]
["12309A(99)v11214",166,82,0.49,{"$nulls":3},"A有","12309A","ABCA9","chr17:66985992","c.3917T>G(E30)","p.1306,K>T","rs2302294",0.41,0.31,0.3,0.32,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCA9",1,280,"错义",12210,"0.49=141/290",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"]
["12309A(99)v11212",117,46,0.39,{"$nulls":3},"A有","12309A","ABCA9","chr17:67028260","c.1434T>C(E10)","p.478,K>K","rs2302291",0.41,0.24,0.22,0.26,0.25,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCA9",1,280,"同义",13203,"0.38=69/182",null,10350,"17q24.2","NM_080283.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11211",228,227,1,{"$nulls":3},"A有","12309A","ABCA9","chr17:67031457","c.1058C>T(E8)","p.353,R>H","rs1860447",0.86,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ABCA9",1,280,"错义",12220,"1.00=400/401",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"]
["12309A(99)v4934",98,48,0.49,{"$nulls":3},"A有","12309A","ABCB1","chr7:87138645","c.3435A>G(E27)","p.1145,I>I","rs1045642",null,0.66,0.7,0.62,0.55,0.62,"杂合","未知","预测范围之外的同义突变","15197162;15805193;16999857;17146660;17366837;17548681;17674045;17913323;18182569;18213362;18285546;18424454;18518969;18547414;18698231;18725235;18784455;18812236;18854777;18936436;19155191;19193698;19197249;19285141;19373654;19437139;19694740;19740399;19930591;20170205;20214406;20354687;20389299;20533057;20859246;21102498;21172166;21185600;21247447;21332314;21364332;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22135187;22136368;22176633;22306099;22311042;22396794;22434582;22569204;22630058;22672924;22859359;22875622;22910404;23107763;23133420;23133441;23188198;23279665;23443032;23504525;23647060;23733030;23810503;23829278;23894093;23896815;23926124;23996099;24127120;24240480;24434428;24444408;24469730;24499375;24732756;24756092;24797400;24810093;24883056;24892773;24915124;24918524;24933103;24944790;24950410;24991206;25007187;25051347;25122423","秋水仙碱抵抗",null,120080,4,2,4,2,"ABCB1",1,280,"同义",13303,"0.50=87/174",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4934",98,48,0.49,{"$nulls":3},"A有","12309A","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",1,280,"同义",13303,"0.50=87/174",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"]
["12309A(99)v4933",234,106,0.45,{"$nulls":3},"A有","12309A","ABCB1","chr7:87160618","c.2677A>C(E22)","p.893,S>A","rs2032582",null,0.48,0.53,0.44,0.4,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,280,"错义",12320,"0.47=205/439",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4933",234,106,0.45,{"$nulls":3},"A有","12309A","ABCB1","chr7:87160618","c.2677A>C(E22)","p.893,S>A","rs2032582",null,0.48,0.53,0.44,0.4,0.47,"杂合","未知","蛋白结构预测结果为容忍或无害","15197162;16103896;16999857;17146660;17548681;17674045;17913323;18213362;18424454;18442890;18518969;18698231;18725235;18784455;18812236;18854777;19155191;19667110;19694740;19740399;20170205;20214406;20354687;20389299;20533057;21102498;21172166;21185600;21287651;21468756;21544031;21553324;21705081;21806386;21827404;21840870;21896346;22015057;22112610;22120734;22134106;22136368;22176633;22306099;22672924;23133420;23133441;23188198;23279665;23443032;23733030;23771192;23829278;24018773;24240480;24434428;24469730;24732756;24756092;24797400;24810093;24831289;24874929;24883056;24884825;24918524;24944790;24991206;25168315","炎性肠病13型",null,612244,3,2,4,2,"ABCB1",1,280,"错义",12320,"0.47=205/439",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"]
["12309A(99)v4932",133,62,0.47,{"$nulls":3},"A有","12309A","ABCB1","chr7:87214970","c.144C>A(E5)","p.48,K>N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0026,2.8E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,280,"错义",12120,"0.48=105/220",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4932",133,62,0.47,{"$nulls":3},"A有","12309A","ABCB1","chr7:87214970","c.144C>A(E5)","p.48,K>N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0026,2.8E-3,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"炎性肠病13型",null,612244,3,2,4,2,"ABCB1",1,280,"错义",12120,"0.48=105/220",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"]
["12309A(99)v4931",127,127,1,{"$nulls":3},"A有","12309A","ABCB1","chr7:87229501","m.493T>C(E3)","非编码区","rs2214102",0.98,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"秋水仙碱抵抗",null,120080,5,1,4,2,"ABCB1",1,280,"非编码区",14200,"1.00=244/244",null,5243,"7q21.12","NM_000927.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4931",127,127,1,{"$nulls":3},"A有","12309A","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",1,280,"非编码区",14200,"1.00=244/244",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"]
["12309A(99)v22628",118,54,0.46,{"$nulls":3},"A有","12309A","ABCB10","chr1:229663065-229663069","IVS8-10至IVS8-14:缺失AGGAA","非编码区","rs113712941",1,1,1,1,0.11,1,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"ABCB10",0.79,160,"非编码区",2500,"0.46=63/136",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"]
["12309A(99)v3347",8,8,1,{"$nulls":3},"A有","12309A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,5,2,"ABCB11",1,240,"非编码区",14300,"1.00=8/8",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3347",8,8,1,{"$nulls":3},"A有","12309A","ABCB11","chr2:169779896","m.4328T>C(E28)","非编码区","rs473351",null,0.94,0.93,0.96,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"良性复发性肝内胆汁淤积2型","AR",605479,3,1,5,2,"ABCB11",1,240,"非编码区",14300,"1.00=8/8",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3346",53,24,0.45,{"$nulls":3},"A有","12309A","ABCB11","chr2:169789016","c.3084T>C(E24)","p.1028,A>A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.46=37/81",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3346",53,24,0.45,{"$nulls":3},"A有","12309A","ABCB11","chr2:169789016","c.3084T>C(E24)","p.1028,A>A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.46=37/81",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3345",101,100,0.99,{"$nulls":3},"A有","12309A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,5,2,"ABCB11",1,240,"错义",12320,"0.99=162/163",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3345",101,100,0.99,{"$nulls":3},"A有","12309A","ABCB11","chr2:169830328","c.1331A>G(E13)","p.444,V>A","rs2287622",null,0.67,0.67,0.67,0.7,0.73,"纯合","未知","蛋白结构预测结果为容忍或无害","18176959;18987030;22522591;24914347;24969679","良性复发性肝内胆汁淤积2型","AR",605479,3,1,5,2,"ABCB11",1,240,"错义",12320,"0.99=162/163",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3343",191,85,0.45,{"$nulls":3},"A有","12309A","ABCB11","chr2:169847412","c.807A>G(E9)","p.269,Y>Y","rs2287616",0.065,0.31,0.27,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.42=138/332",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3343",191,85,0.45,{"$nulls":3},"A有","12309A","ABCB11","chr2:169847412","c.807A>G(E9)","p.269,Y>Y","rs2287616",0.065,0.31,0.27,0.35,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.42=138/332",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3344",273,135,0.49,{"$nulls":3},"A有","12309A","ABCB11","chr2:169870855","c.108A>G(E4)","p.36,D>D","rs3815675",0.063,0.3,0.26,0.34,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.49=239/485",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3344",273,135,0.49,{"$nulls":3},"A有","12309A","ABCB11","chr2:169870855","c.108A>G(E4)","p.36,D>D","rs3815675",0.063,0.3,0.26,0.34,0.26,0.3,"杂合","无关","有rs号，MAF>=5%",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,5,2,"ABCB11",1,240,"同义",13203,"0.49=239/485",null,8647,"2q24","NM_003742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22782",130,57,0.44,{"$nulls":3},"A有","12309A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"I型胆囊疾病","AD,AR",600803,5,1,1,3,"ABCB4",1,300,"同义",13203,"0.43=90/209",null,5244,"7q21.1","NM_000443.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22782",130,57,0.44,{"$nulls":3},"A有","12309A","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,"0.43=90/209",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"]
["12309A(99)v22782",130,57,0.44,{"$nulls":3},"A有","12309A","ABCB4","chr7:87082292","c.504G>A(E6)","p.168,N>N","rs1202283",0.35,0.33,0.34,0.32,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",24914347,"妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,1,3,"ABCB4",1,300,"同义",13203,"0.43=90/209",null,5244,"7q21.1","NM_000443.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13579",136,67,0.49,{"$nulls":3},"A有","12309A","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",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"剪切位点",16204,"0.51=121/235",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13574",174,88,0.51,{"$nulls":3},"A有","12309A","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,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12210,"0.52=161/312",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13575",162,82,0.51,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"剪切位点",16202,"0.50=137/272",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13578",75,37,0.49,{"$nulls":3},"A有","12309A","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",{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12220,"0.49=60/122",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13577",17,17,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"非编码区",14200,"1.00=19/19",null,340273,"7p21.1","NM_001163993.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13576",253,126,0.5,{"$nulls":3},"A有","12309A","ABCB5","chr7:20762646","c.2429G>T(E21)","p.810,G>V","rs62453384",0.23,0.21,0.24,0.18,0.19,0.2,"杂合","无关","有rs号，MAF>=5%",21298007,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12210,"0.46=199/435",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13581",164,83,0.51,{"$nulls":3},"A有","12309A","ABCB5","chr7:20768013","c.2802G>A(E23)","p.934,A>A","rs10254317",0.6,0.7,0.71,0.69,0.67,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ABCB5",1,250,"同义",13203,"0.47=140/295",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13580",64,64,1,{"$nulls":3},"A有","12309A","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,{"$nulls":3},5,null,8,0,"ABCB5",1,250,"错义",12220,"0.99=113/114",null,340273,"7p21.1","NM_001163941.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18569",16,5,0.31,{"$nulls":3},"A有","12309A","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",{"$nulls":4},2,null,1,0,"ABCB9",0.99,33,"错义",12110,"0.36=8/22",null,23457,"12q24","NM_001243013.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11644",101,45,0.45,{"$nulls":3},"A有","12309A","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,4,0,"ABCC1",0.99,92,"错义",12310,"0.44=69/157",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"]
["12309A(99)v11645",55,27,0.49,{"$nulls":3},"A有","12309A","ABCC1","chr16:16162019","c.1684T>C(E13)","p.562,L>L","rs35605",0.79,0.79,0.84,0.75,0.77,0.79,"杂合","无关","有rs号，MAF>=5%","16684361;24944790",{"$nulls":3},5,null,4,0,"ABCC1",0.99,92,"同义",13203,"0.50=45/90",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"]
["12309A(99)v11643",12,6,0.5,{"$nulls":3},"A有","12309A","ABCC1","chr16:16173227","c.2007C>T(E16)","p.669,P>P","rs2301666",0.0058,0.031,0.029,0.034,0.038,0.026,"杂合","未知","预测范围之外的同义突变",16684361,{"$nulls":3},4,null,4,0,"ABCC1",0.99,92,"同义",13103,"0.44=8/18",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"]
["12309A(99)v11646",32,32,1,{"$nulls":3},"A有","12309A","ABCC1","chr16:16205449","IVS22+10G>A","非编码区","rs3851716",0.93,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ABCC1",0.99,92,"非编码区",16203,"1.00=52/52",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"]
["12309A(99)v30323",43,43,1,{"$nulls":3},"A有","12309A","ABCC10","chr6:43399837","m.349A>G(E1)","非编码区","rs700008",0.88,0.95,0.95,0.95,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCC10",0.96,50,"非编码区",14200,"1.00=76/76",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"]
["12309A(99)v9003",39,39,1,{"$nulls":3},"A有","12309A","ABCC11","chr16:48258198","c.538C>T(E5)","p.180,G>R","rs17822931",0.3,0.91,0.84,0.97,0.87,0.88,"纯合","无关","有rs号，MAF>=5%","16255080;16444273;17394018;18037328;18817904;19650936;19737746;20937735;21423094;23325016;23760047;24019265","顶浆分泌腺变异","AD",117800,5,1,1,1,"ABCC11",1,130,"错义",12210,"1.00=60/60",null,85320,"16q12.1","NM_032583.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1196",91,89,0.98,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ABCC12",1,180,"错义",12210,"0.98=130/132",null,94160,"16q12.1","NM_033226.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25154",125,125,1,{"$nulls":3},"A有","12309A","ABCC2","chr10:101544447","c.116A>T(E2)","p.39,Y>F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,1,1,"ABCC2",1,180,"错义",12230,"1.00=224/225",null,1244,"10q24","NM_000392.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5228",27,13,0.48,{"$nulls":3},"A有","12309A","ABCC3","chr17:48762173","c.4217C>T(E29)","p.1406,T>M","rs140060241",0.0006,0,0,0,0.008,0.006,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ABCC3",1,71,"错义",12120,"0.48=21/44",null,8714,"17q22","NM_003786.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20924",102,47,0.46,{"$nulls":3},"A有","12309A","ABCC4","chr13:95673791","m.4135A>C(E31)","非编码区","rs3742106",0.41,0.51,0.51,0.5,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABCC4",0.99,250,"非编码区",14200,"0.53=93/175",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20926",175,175,1,{"$nulls":3},"A有","12309A","ABCC4","chr13:95714976","c.3348C>T(E26)","p.1116,K>K","rs1751034",0.79,0.81,0.82,0.81,0.74,0.78,"纯合","无关","有rs号，MAF>=5%","18364470;24944790",{"$nulls":3},5,null,7,0,"ABCC4",0.99,250,"同义",13203,"1.00=272/273",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20923",122,121,0.99,{"$nulls":3},"A有","12309A","ABCC4","chr13:95726541","c.2844A>G(E23)","p.948,F>F","rs1189466",0.9,0.82,0.84,0.81,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,250,"同义",13203,"0.99=196/197",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20921",95,95,1,{"$nulls":3},"A有","12309A","ABCC4","chr13:95727780","c.2712T>C(E22)","p.904,L>L","rs1678339",0.89,0.82,0.83,0.81,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,250,"同义",13203,"1.00=161/161",null,10257,"13q32","NM_005845.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20925",80,35,0.44,{"$nulls":3},"A有","12309A","ABCC4","chr13:95858978","c.969T>C(E8)","p.323,S>S","rs2274405",0.63,0.53,0.51,0.55,0.52,0.53,"杂合","无关","有rs号，MAF>=5%","18213362;18364470",{"$nulls":3},5,null,7,0,"ABCC4",0.99,250,"同义",13203,"0.42=54/128",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20922",70,33,0.47,{"$nulls":3},"A有","12309A","ABCC4","chr13:95858996","c.951T>C(E8)","p.317,R>R","rs2274406",0.52,0.53,0.5,0.55,0.52,0.53,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,250,"同义",13203,"0.47=54/114",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20920",78,38,0.49,{"$nulls":3},"A有","12309A","ABCC4","chr13:95861804","c.669A>G(E6)","p.223,I>I","rs899494",0.81,0.78,0.8,0.77,0.76,0.78,"杂合","无关","有rs号，MAF>=5%",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,250,"同义",13203,"0.49=67/137",null,10257,"13q32","NM_001105515.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2686",131,130,0.99,{"$nulls":3},"A有","12309A","ABCC5","chr3:183660585","c.3624G>A(E25)","p.1208,L>L","rs3749442",0.25,0.44,0.47,0.41,0.42,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABCC5",1,140,"同义",13203,"1.00=215/216",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2683",138,138,1,{"$nulls":3},"A有","12309A","ABCC5","chr3:183685534","c.1782A>G(E12)","p.594,C>C","rs939336",0.69,0.85,0.87,0.82,0.83,0.86,"纯合","无关","有rs号，MAF>=5%","14507663;24924344",{"$nulls":3},5,null,3,0,"ABCC5",1,140,"同义",13203,"1.00=219/219",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2684",91,91,1,{"$nulls":3},"A有","12309A","ABCC5","chr3:183696402","c.1185A>G(E9)","p.395,A>A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",24924344,{"$nulls":3},5,null,3,0,"ABCC5",1,140,"同义",13203,"1.00=146/146",null,10057,"3q27","NM_005688.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16020",60,60,1,{"$nulls":3},"A有","12309A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"早期弹性纤维假黄瘤","AD",177850,5,1,2,3,"ABCC6",1,62,"错义",12230,"1.00=94/94",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16020",60,60,1,{"$nulls":3},"A有","12309A","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",264800,5,1,2,3,"ABCC6",1,62,"错义",12230,"1.00=94/94",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"]
["12309A(99)v16020",60,60,1,{"$nulls":3},"A有","12309A","ABCC6","chr16:16271357","c.2542T>C(E19)","p.848,M>V","rs6416668",0.96,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,2,3,"ABCC6",1,62,"错义",12230,"1.00=94/94",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16019",23,23,1,{"$nulls":3},"A有","12309A","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",177850,5,1,2,3,"ABCC6",1,62,"同义",13203,"1.00=43/43",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"]
["12309A(99)v16019",23,23,1,{"$nulls":3},"A有","12309A","ABCC6","chr16:16272670","c.2400T>C(E18)","p.800,G>G","rs7500834",0.96,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"弹性纤维假黄瘤","AR",264800,5,1,2,3,"ABCC6",1,62,"同义",13203,"1.00=43/43",null,368,"16p13.1","NM_001171.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16019",23,23,1,{"$nulls":3},"A有","12309A","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",614473,5,1,2,3,"ABCC6",1,62,"同义",13203,"1.00=43/43",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"]
["12309A(99)v19652",15,9,0.6,{"$nulls":3},"A有","12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,78,"错义",12220,"0.62=13/21",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19652",15,9,0.6,{"$nulls":3},"A有","12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,78,"错义",12220,"0.62=13/21",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"]
["12309A(99)v19652",15,9,0.6,{"$nulls":3},"A有","12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,78,"错义",12220,"0.62=13/21",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19652",15,9,0.6,{"$nulls":3},"A有","12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,78,"错义",12220,"0.62=13/21",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"]
["12309A(99)v19652",15,9,0.6,{"$nulls":3},"A有","12309A","ABCC8","chr11:17418477","c.4105C>A(E33)","p.1369,A>S","rs757110",0.73,0.6,0.58,0.61,0.53,0.62,"杂合","无关","有rs号，MAF>=5%","16642433;17903298;18599530;19641380;24442125","新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,78,"错义",12220,"0.62=13/21",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19653",12,2,0.17,{"$nulls":3},"A有","12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,78,"同义",13203,"0.21=4/19",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"]
["12309A(99)v19653",12,2,0.17,{"$nulls":3},"A有","12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,78,"同义",13203,"0.21=4/19",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19653",12,2,0.17,{"$nulls":3},"A有","12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,78,"同义",13203,"0.21=4/19",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"]
["12309A(99)v19653",12,2,0.17,{"$nulls":3},"A有","12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,78,"同义",13203,"0.21=4/19",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19653",12,2,0.17,{"$nulls":3},"A有","12309A","ABCC8","chr11:17419279","c.3819C>T(E31)","p.1273,R>R","rs1799859",0.39,0.099,0.1,0.092,0.081,0.088,"杂合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,78,"同义",13203,"0.21=4/19",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"]
["12309A(99)v19651",16,8,0.5,{"$nulls":3},"A有","12309A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,4,5,"ABCC8",1,78,"剪切位点",16202,"0.48=11/23",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19651",16,8,0.5,{"$nulls":3},"A有","12309A","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",1,78,"剪切位点",16202,"0.48=11/23",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"]
["12309A(99)v19651",16,8,0.5,{"$nulls":3},"A有","12309A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,4,5,"ABCC8",1,78,"剪切位点",16202,"0.48=11/23",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19651",16,8,0.5,{"$nulls":3},"A有","12309A","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",1,78,"剪切位点",16202,"0.48=11/23",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"]
["12309A(99)v19651",16,8,0.5,{"$nulls":3},"A有","12309A","ABCC8","chr11:17448704","IVS15-3G>A","剪切位点","rs1799854",0.37,0.57,0.58,0.55,null,0.6,"杂合","无关","有rs号，MAF>=5%",null,"新生儿暂时性糖尿病2型",null,610374,5,2,4,5,"ABCC8",1,78,"剪切位点",16202,"0.48=11/23",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19650",51,24,0.47,{"$nulls":3},"A有","12309A","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",1,78,"同义",13203,"0.52=42/81",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"]
["12309A(99)v19650",51,24,0.47,{"$nulls":3},"A有","12309A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,4,5,"ABCC8",1,78,"同义",13203,"0.52=42/81",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19650",51,24,0.47,{"$nulls":3},"A有","12309A","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",1,78,"同义",13203,"0.52=42/81",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"]
["12309A(99)v19650",51,24,0.47,{"$nulls":3},"A有","12309A","ABCC8","chr11:17452492","c.1686G>A(E12)","p.562,H>H","rs1799857",0.43,0.28,0.27,0.29,0.29,0.28,"杂合","无关","有rs号，MAF>=5%",null,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,5,"ABCC8",1,78,"同义",13203,"0.52=42/81",null,6833,"11p15.1","NM_000352.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19650",51,24,0.47,{"$nulls":3},"A有","12309A","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",1,78,"同义",13203,"0.52=42/81",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"]
["12309A(99)v25895",138,136,0.99,{"$nulls":3},"A有","12309A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"多毛性骨软骨发育不良","AD",239850,5,1,2,3,"ABCC9",1,290,"同义",13203,"0.98=258/262",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25895",138,136,0.99,{"$nulls":3},"A有","12309A","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,"0.98=258/262",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"]
["12309A(99)v25895",138,136,0.99,{"$nulls":3},"A有","12309A","ABCC9","chr12:22063115","c.1296A>G(E8)","p.432,P>P","rs10770865",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,290,"同义",13203,"0.98=258/262",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25896",43,26,0.6,{"$nulls":3},"A有","12309A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"多毛性骨软骨发育不良","AD",239850,5,1,2,3,"ABCC9",1,290,"剪切位点",16201,"0.59=34/58",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"]
["12309A(99)v25896",43,26,0.6,{"$nulls":3},"A有","12309A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1O型",null,608569,5,2,2,3,"ABCC9",1,290,"剪切位点",16201,"0.59=34/58",null,10060,"12p12.1","NM_005691.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25896",43,26,0.6,{"$nulls":3},"A有","12309A","ABCC9","chr12:22068849","IVS4-5G>T","剪切位点","rs3759236",0.64,0.78,0.76,0.79,0.72,0.79,"杂合","无关","有rs号，MAF>=5%",null,"家族性房颤12型","AD",614050,5,1,2,3,"ABCC9",1,290,"剪切位点",16201,"0.59=34/58",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"]
["12309A(99)v18140",65,63,0.97,{"$nulls":3},"A有","12309A","ABCD3","chr1:94982785","m.2182A>T(E23)","非编码区","rs662813",0.28,0.35,0.39,0.31,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABCD3",0.95,310,"非编码区",14200,"0.95=80/84",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"]
["12309A(99)v303",5,5,1,{"$nulls":3},"A有","12309A","ABCD4","chr14:74752902","m.2235A>C(E19)","非编码区","rs2466",0.26,0.52,0.56,0.49,null,null,"纯合","无关","有rs号，MAF>=5%",null,"甲基丙二酸尿症和高胱氨酸尿 cblJ型","AR",614857,5,1,1,1,"ABCD4",1,85,"非编码区",14200,"1.00=8/8",null,5826,"14q24.3","NM_005050.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21263",131,131,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ABCE1",1,300,"剪切位点",16202,"0.99=219/222",null,6059,"4q31","NM_001040876.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16786",79,39,0.49,{"$nulls":3},"A有","12309A","ABCF2","chr7:150916228","c.939G>A(E8)","p.313,Y>Y","rs6949587",0.42,0.69,0.76,0.63,0.67,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABCF2",1,92,"同义",13203,"0.52=61/117",null,10061,"7q36","NM_005692.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16787",63,63,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ABCF2",1,92,"同义",13203,"1.00=100/100",null,10061,"7q36","NM_005692.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30474",12,10,0.83,{"$nulls":3},"A有","12309A","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,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"ABCF3",1,93,"非编码区",2420,"0.87=13/15",null,55324,"3q27.1","NM_018358.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12309A(99)v4358",61,55,0.9,{"$nulls":3},"A有","12309A","ABCG1","chr21:43708431-43708432","IVS10+9至IVS10+10:插入C","非编码区","rs2234720",{"$nulls":4},0.04,0.32,"纯合","无关","内含子突变",{"$nulls":4},5,null,2,0,"ABCG1",0.98,90,"非编码区",2500,"0.91=58/64",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"]
["12309A(99)v4357",15,7,0.47,{"$nulls":3},"A有","12309A","ABCG1","chr21:43716647","m.2288C>T(E15)","非编码区","rs371391053",0.0004,0.0024,0.0048,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ABCG1",0.98,90,"非编码区",14100,"0.50=8/16",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"]
["12309A(99)v22174",171,76,0.44,{"$nulls":3},"A有","12309A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"杂合","无关","有rs号，MAF>=5%","18547414;18834626;19474294;19503597;19506252;19842935;19890391;19930591;20053405;20130569;20162742;20162743;20389299;20421215;20470424;20714133;20837191;20858603;20959405;21918980;21983786;22015057;22112610;22229870;23100282;23263486;23280364;23438071;23712608;23778707;23827224;24499401;24513273;24532835;24598718;24637121;24777469;24827988;24883056;24944790;24991206;25128519","血浆尿酸浓度数量性状位点1","AD",138900,5,1,1,2,"ABCG2",1,300,"错义",12220,"0.42=126/302",null,9429,"4q22","NM_001257386.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22174",171,76,0.44,{"$nulls":3},"A有","12309A","ABCG2","chr4:89052323","c.421G>T(E5)","p.141,Q>K","rs2231142",0.12,0.28,0.26,0.31,0.26,0.3,"杂合","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,614490,5,2,1,2,"ABCG2",1,300,"错义",12220,"0.42=126/302",null,9429,"4q22","NM_001257386.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13616",19,12,0.63,{"$nulls":3},"A有","12309A","ABCG4","chr11:119031841-119031842","m.2078(E15)至m.2079(E15):插入C","非编码区","rs397687210",1,1,1,1,0.15,1,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"ABCG4",0.95,65,"非编码区",2420,"0.57=12/21",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"]
["12309A(99)v30657",161,82,0.51,{"$nulls":3},"A有","12309A","ABCG5","chr2:44040401","c.1810G>C(E13)","p.604,Q>E","rs6720173",0.24,0.12,0.14,0.11,0.11,0.12,"杂合","无关","有rs号，MAF>=5%","15996216;16507104;19005228","谷甾醇血症","AR",210250,5,3,1,1,"ABCG5",1,170,"错义",12220,"0.49=140/284",null,64240,"2p21","NM_022436.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1344",3,3,1,{"$nulls":3},"A有","12309A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"纯合","无关","有rs号，MAF>=5%",null,"谷甾醇血症","AR",210250,5,1,5,2,"ABCG8",1,83,"非编码区",14200,"1.00=6/6",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1344",3,3,1,{"$nulls":3},"A有","12309A","ABCG8","chr2:44066174","m.72T>G(E1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.64,0.86,"纯合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,83,"非编码区",14200,"1.00=6/6",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1346",25,25,1,{"$nulls":3},"A有","12309A","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",1,83,"剪切位点",16202,"0.98=46/47",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1346",25,25,1,{"$nulls":3},"A有","12309A","ABCG8","chr2:44071639","IVS1-7C>T","剪切位点","rs4148210",0.52,0.87,0.87,0.87,null,0.87,"纯合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,83,"剪切位点",16202,"0.98=46/47",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1342",38,38,1,{"$nulls":3},"A有","12309A","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",1,83,"错义",12210,"1.00=61/61",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1342",38,38,1,{"$nulls":3},"A有","12309A","ABCG8","chr2:44071743","c.161A>G(E2)","p.54,Y>C","rs4148211",0.43,0.87,0.87,0.87,0.79,0.87,"纯合","无关","有rs号，MAF>=5%","15996216;19005228;20170916","胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,83,"错义",12210,"1.00=61/61",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1343",93,93,1,{"$nulls":3},"A有","12309A","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",1,83,"剪切位点",16202,"1.00=152/152",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1343",93,93,1,{"$nulls":3},"A有","12309A","ABCG8","chr2:44101538","IVS9-8C>T","剪切位点","rs28517482",0.76,0.97,0.97,0.98,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"胆囊病4型",null,611465,5,1,5,2,"ABCG8",1,83,"剪切位点",16202,"1.00=152/152",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1345",152,151,0.99,{"$nulls":3},"A有","12309A","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",1,83,"错义",12320,"1.00=250/251",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1345",152,151,0.99,{"$nulls":3},"A有","12309A","ABCG8","chr2:44104925","c.1895T>C(E13)","p.632,V>A","rs6544718",null,1,1,1,0.99,1,"纯合","未知","蛋白结构预测结果为容忍或无害","15996216;16507104;20170916","胆囊病4型",null,611465,3,1,5,2,"ABCG8",1,83,"错义",12320,"1.00=250/251",null,64241,"2p21","NM_022437.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12198",52,52,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ABHD1",1,100,"错义",12230,"1.00=71/71",null,84696,"2p23.3","NM_032604.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30716",21,13,0.62,{"$nulls":3},"A有","12309A","ABHD11","chr7:73151644","c.540A>G(E4)","p.180,Y>Y","rs6460052",0.6,0.56,0.55,0.58,0.49,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD11",1,45,"同义",13203,"0.60=24/40",null,83451,"7q11.23","NM_148912.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16768",43,8,0.19,{"$nulls":3},"A有","12309A","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",612674,4,3,5,1,"ABHD12",0.85,120,"非编码区",2420,"0.17=8/47",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"]
["12309A(99)v16766",53,28,0.53,{"$nulls":3},"A有","12309A","ABHD12","chr20:25275621","c.1203T>C(E13)","p.401,S>S","rs73598373",0.056,0.043,0.062,0.024,0.043,0.068,"杂合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,3,5,1,"ABHD12",0.85,120,"同义",13203,"0.51=42/82",null,26090,"20p11.21","NM_015600.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16767",8,3,0.38,{"$nulls":3},"A有","12309A","ABHD12","chr20:25281333","m.1624G>A(E13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"杂合","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",612674,5,3,5,1,"ABHD12",0.85,120,"非编码区",14200,"0.44=4/9",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"]
["12309A(99)v16764",28,15,0.54,{"$nulls":3},"A有","12309A","ABHD12","chr20:25281398","m.1559C>T(E13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"杂合","无关","有rs号，MAF>=5%",null,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,3,5,1,"ABHD12",0.85,120,"非编码区",14200,"0.45=19/42",null,26090,"20p11.21","NM_001042472.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16765",29,13,0.45,{"$nulls":3},"A有","12309A","ABHD12","chr20:25282944","c.1068A>G(E12)","p.356,D>D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"杂合","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",612674,5,3,5,1,"ABHD12",0.85,120,"同义",13203,"0.45=22/49",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"]
["12309A(99)v22857",83,45,0.54,{"$nulls":3},"A有","12309A","ABHD12B","chr14:51352608","c.657T>C(E7)","p.219,G>G","rs2297893",0.1,0.16,0.19,0.14,0.18,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"同义",13203,"0.49=66/135",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"]
["12309A(99)v22855",223,220,0.99,{"$nulls":3},"A有","12309A","ABHD12B","chr14:51368610","c.844A>G(E10)","p.282,I>V","rs28564871",0.28,0.46,0.47,0.46,0.45,0.44,"纯合","无关","有疾病相关报道，MAF>=5%","16959974;",{"$nulls":3},5,null,6,0,"ABHD12B",0.79,180,"错义",11200,"0.99=402/407",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"]
["12309A(99)v22856",109,109,1,{"$nulls":3},"A有","12309A","ABHD12B","chr14:51370784","IVS11-8G>C","剪切位点","rs4901064",0.28,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"剪切位点",16202,"1.00=182/182",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"]
["12309A(99)v22854",155,154,0.99,{"$nulls":3},"A有","12309A","ABHD12B","chr14:51371121","m.1141C>T(E13)","非编码区","rs4901065",0.28,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"非编码区",14200,"0.99=246/249",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"]
["12309A(99)v22859",148,148,1,{"$nulls":3},"A有","12309A","ABHD12B","chr14:51371130","m.1150C>T(E13)","非编码区","rs11157780",0.25,0.46,0.47,0.46,null,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"非编码区",14200,"1.00=234/234",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"]
["12309A(99)v22858",107,106,0.99,{"$nulls":3},"A有","12309A","ABHD12B","chr14:51371150","m.1170C>T(E13)","非编码区","rs11157781",0.28,0.46,0.47,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABHD12B",0.79,180,"非编码区",14200,"0.99=167/169",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"]
["12309A(99)v26408",4,3,0.75,{"$nulls":3},"A有","12309A","ABHD13","chr13:108882748","m.1447A>G(E2)","非编码区","rs9587535",0.12,0.11,0.12,0.097,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD13",1,130,"非编码区",14200,"0.75=3/4",null,84945,"13q33.3","NM_032859.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28618",18,18,1,{"$nulls":3},"A有","12309A","ABHD15","chr17:27889578","m.1466T>C(E2)","非编码区","rs539307",0.74,0.95,0.94,0.95,0.9,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD15",0.95,19,"非编码区",14200,"1.00=24/24",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"]
["12309A(99)v28621",8,8,1,{"$nulls":3},"A有","12309A","ABHD15","chr17:27889986","c.1000T>C(E2)","p.334,T>A","rs542939",0.77,0.89,0.88,0.9,0.8,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD15",0.95,19,"错义",12220,"1.00=8/8",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"]
["12309A(99)v1580",3,3,1,{"$nulls":3},"A有","12309A","ABHD16B","chr20:62492922","c.29T>A(E1)","p.10,L>Q","rs2281534",0.066,0.14,0.15,0.13,0.09,0.24,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD16B",0.9,3.8,"错义",12220,"1.00=5/5",null,140701,"20q13.33","NM_080622.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24462",17,17,1,{"$nulls":3},"A有","12309A","ABHD2","chr15:89744004","m.7546C>T(E15)","非编码区","rs7179900",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD2",1,120,"非编码区",14200,"0.94=31/33",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"]
["12309A(99)v24461",141,140,0.99,{"$nulls":3},"A有","12309A","ABHD2","chr15:89744476","m.8018G>T(E15)","非编码区","rs6416547",0.91,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABHD2",1,120,"非编码区",14200,"1.00=228/229",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"]
["12309A(99)v2773",2,2,1,{"$nulls":3},"A有","12309A","ABHD8","chr19:17412218","c.208C>T(E2)","p.70,G>R","rs3745186",0.13,0.15,0.16,0.14,0.11,0.15,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABHD8",1,18,"错义",12220,"1.00=3/3",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"]
["12309A(99)v1757",20,7,0.35,{"$nulls":3},"A有","12309A","ABI3","chr17:47293906","c.131G>A(E2)","p.44,R>Q","rs2233369",0.11,0.13,0.11,0.15,0.15,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3",1,40,"错义",12210,"0.30=7/23",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"]
["12309A(99)v1756",7,7,1,{"$nulls":3},"A有","12309A","ABI3","chr17:47297297","c.608T>C(E5)","p.203,F>S","rs616338",1,1,1,1,0.88,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3",1,40,"错义",12230,"1.00=12/12",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"]
["12309A(99)v5470",82,82,1,{"$nulls":3},"A有","12309A","ABI3BP","chr3:100617680","c.408C>T(E4)","p.136,S>S","rs2245370",0.73,0.92,0.95,0.89,0.88,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABI3BP",1,310,"同义",13203,"1.00=136/136",null,25890,"3q12","NM_015429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5471",102,43,0.42,{"$nulls":3},"A有","12309A","ABI3BP","chr3:100712249","c.1T>C(E1)","p.1,M>V","rs3732895",0.24,0.44,0.41,0.48,0.49,0.45,"杂合","无关","起始密码子突变，影响蛋白编码起始位点",{"$nulls":4},5,null,2,0,"ABI3BP",1,310,"错义",18220,"0.41=61/148",null,25890,"3q12","NM_015429.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2692",3,3,1,{"$nulls":3},"A有","12309A","ABL1","chr9:133634535-133634536","UTR:插入GCTCA","非编码区","rs111645729",0.6,0.62,0.6,0.65,0.25,null,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,3,0,"ABL1",1,72,"非编码区",2600,"1.00=4/4",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"]
["12309A(99)v2691",18,18,1,{"$nulls":3},"A有","12309A","ABL1","chr9:133710819-133710820","UTR:插入C","非编码区","rs67372388",1,1,1,1,0.8,1,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,3,0,"ABL1",1,72,"非编码区",2600,"1.00=20/20",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"]
["12309A(99)v2689",13,13,1,{"$nulls":3},"A有","12309A","ABL1","chr9:133761001","c.3324A>G(E11)","p.1108,P>P","rs1056171",0.65,0.61,0.61,0.61,0.54,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABL1",1,72,"同义",13203,"1.00=21/21",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"]
["12309A(99)v20286",102,50,0.49,{"$nulls":3},"A有","12309A","ABL2","chr1:179076821","m.3272A>G(E13)","非编码区","rs28913893",0.0062,0.041,0.048,0.034,null,0.039,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ABL2",0.97,160,"非编码区",14100,"0.48=86/179",null,27,"1q25.2","NM_001136000.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19892",7,4,0.57,{"$nulls":3},"A有","12309A","ABLIM1","chr10:116195776","m.2702C>G(E23)","非编码区","rs1057139",0.66,0.63,0.59,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABLIM1",1,200,"非编码区",14200,"0.57=4/7",null,3983,"10q25","NM_001003407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19893",55,55,1,{"$nulls":3},"A有","12309A","ABLIM1","chr10:116307504","c.525A>G(E5)","p.175,N>N","rs2247528",0.78,0.66,0.63,0.69,0.63,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ABLIM1",1,200,"同义",13203,"1.00=88/88",null,3983,"10q25","NM_001003407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19891",69,34,0.49,{"$nulls":3},"A有","12309A","ABLIM1","chr10:116335246","c.312G>A(E3)","p.104,F>F","rs985273",0.3,0.24,0.21,0.27,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,3,0,"ABLIM1",1,200,"同义",13203,"0.53=57/108",null,3983,"10q25","NM_001003407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5856",7,4,0.57,{"$nulls":3},"A有","12309A","ABLIM2","chr4:7968572","m.2226C>T(E21)","非编码区","rs2292738",0.21,0.26,0.23,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"非编码区",14200,"0.57=4/7",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"]
["12309A(99)v5857",24,13,0.54,{"$nulls":3},"A有","12309A","ABLIM2","chr4:8009737","m.1588C>T(E14)","非编码区","rs16841552",0.17,0.3,0.3,0.31,null,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"非编码区",14200,"0.59=22/37",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"]
["12309A(99)v5855",38,38,1,{"$nulls":3},"A有","12309A","ABLIM2","chr4:8009759","m.1566G>A(E14)","非编码区","rs17180256",0.77,0.78,0.78,0.78,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"非编码区",14200,"0.99=66/67",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"]
["12309A(99)v5852",27,27,1,{"$nulls":3},"A有","12309A","ABLIM2","chr4:8031471","c.1080A>G(E11)","p.360,C>C","rs2385904",0.73,0.78,0.79,0.77,0.73,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"同义",13203,"1.00=46/46",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"]
["12309A(99)v5854",62,62,1,{"$nulls":3},"A有","12309A","ABLIM2","chr4:8062689","IVS7+5T>C","剪切位点","rs6811028",0.92,1,1,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"剪切位点",16202,"1.00=101/101",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"]
["12309A(99)v5853",62,62,1,{"$nulls":3},"A有","12309A","ABLIM2","chr4:8062690","IVS7+4G>A","剪切位点","rs10938683",0.7,0.94,0.96,0.92,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ABLIM2",0.99,84,"剪切位点",16202,"1.00=101/101",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"]
["12309A(99)v31240",109,48,0.44,{"$nulls":3},"A有","12309A","ABLIM3","chr5:148610276","IVS9+6C>A","剪切位点","rs2918265",0.44,0.59,0.58,0.6,0.54,0.61,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABLIM3",1,150,"剪切位点",16202,"0.42=75/180",null,22885,"5q32","NM_014945.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20643",15,7,0.47,{"$nulls":3},"A有","12309A","ABO","chr9:136131437","c.680C>T(E7)","p.227,R>H","rs8176742",0.24,0.25,0.26,0.23,0.2,0.25,"杂合","无关","有rs号，MAF>=5%",19169360,"ABO血型系统",null,616093,5,2,9,1,"ABO",0.98,47,"错义",12230,"0.46=11/24",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20649",14,8,0.57,{"$nulls":3},"A有","12309A","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,616093,5,2,9,1,"ABO",0.98,47,"错义",12230,"0.55=12/22",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"]
["12309A(99)v20647",5,2,0.4,{"$nulls":3},"A有","12309A","ABO","chr9:136131651","c.466G>A(E7)","p.156,R>W","rs1053878",0.13,0.18,0.2,0.15,0.17,0.19,"杂合","无关","有rs号，MAF>=5%",19169360,"ABO血型系统",null,616093,5,2,9,1,"ABO",0.98,47,"错义",12230,"0.50=3/6",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20644",51,28,0.55,{"$nulls":3},"A有","12309A","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,616093,5,2,9,1,"ABO",0.98,47,"错义",12230,"0.50=44/88",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"]
["12309A(99)v20650",63,24,0.38,{"$nulls":3},"A有","12309A","ABO","chr9:136132908-136132909","c.261(E6)至c.260(E6):插入C","插入移码","rs72238104",0.34,0.41,0.42,0.39,0.32,0.38,"杂合","未知","有rs号，MAF>=5%的移码突变",null,"ABO血型系统",null,616093,4,2,9,1,"ABO",0.98,47,"插入移码",2120,"0.39=28/71",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20646",119,58,0.49,{"$nulls":3},"A有","12309A","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,616093,5,2,9,1,"ABO",0.98,47,"错义",12230,"0.48=94/194",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"]
["12309A(99)v20642",23,10,0.43,{"$nulls":3},"A有","12309A","ABO","chr9:136135237","c.189A>G(E4)","p.63,H>H","rs549443",0.73,0.75,0.74,0.77,0.68,0.73,"杂合","无关","有rs号，MAF>=5%",null,"ABO血型系统",null,616093,5,2,9,1,"ABO",0.98,47,"同义",13203,"0.46=19/41",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20641",23,10,0.43,{"$nulls":3},"A有","12309A","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,616093,5,2,9,1,"ABO",0.98,47,"错义",12230,"0.46=19/41",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"]
["12309A(99)v20648",42,24,0.57,{"$nulls":3},"A有","12309A","ABO","chr9:136136770","c.106A>C(E3)","p.36,F>V","rs688976",0.72,0.75,0.74,0.77,0.7,0.76,"杂合","无关","有rs号，MAF>=5%",19729612,"ABO血型系统",null,616093,5,2,9,1,"ABO",0.98,47,"错义",12230,"0.44=36/81",null,28,"9q34.2","NM_020469.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30920",59,29,0.49,{"$nulls":3},"A有","12309A","ABP1","chr7:150554887","c.1329G>A(E2)","p.443,A>A","rs2071514",0.3,0.45,0.43,0.48,0.47,0.47,"杂合","无关","有rs号，MAF>=5%",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,51,"同义",13203,"0.46=48/104",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30919",40,12,0.3,{"$nulls":3},"A有","12309A","ABP1","chr7:150555915","c.1635A>G(E3)","p.545,P>P","rs10893",0.46,0.49,0.49,0.5,0.49,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,51,"同义",13203,"0.30=20/66",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30916",31,13,0.42,{"$nulls":3},"A有","12309A","ABP1","chr7:150556002","c.1722T>C(E3)","p.574,P>P","rs1049748",0.52,0.57,0.54,0.6,0.54,0.59,"杂合","无关","有rs号，MAF>=5%",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,51,"同义",13203,"0.50=23/46",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30918",16,16,1,{"$nulls":3},"A有","12309A","ABP1","chr7:150556055","c.1775C>G(E3)","p.592,T>R","rs6943147",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,51,"错义",12220,"1.00=29/29",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30917",16,16,1,{"$nulls":3},"A有","12309A","ABP1","chr7:150556056","c.1776G>C(E3)","p.592,T>T","rs6943420",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,51,"同义",13203,"1.00=29/29",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30921",71,36,0.51,{"$nulls":3},"A有","12309A","ABP1","chr7:150557622","c.1890G>A(E4)","p.630,S>S","rs12179",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ABP1",1,51,"同义",13203,"0.51=59/116",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30922",78,43,0.55,{"$nulls":3},"A有","12309A","ABP1","chr7:150557665","c.1933C>G(E4)","p.645,H>D","rs1049793",0.45,0.49,0.49,0.5,0.53,0.51,"杂合","无关","有rs号，MAF>=5%","19450133;19670078",{"$nulls":3},5,null,7,0,"ABP1",1,51,"错义",12220,"0.56=72/129",null,26,"7q36.1","NM_001091.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v403",20,20,1,{"$nulls":3},"A有","12309A","ABR","chr17:970413","c.975C>T(E9)","p.325,E>E","rs2262150",0.9,0.97,0.97,0.97,0.92,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABR",0.95,65,"同义",13203,"1.00=30/30",null,29,"17p13.3","NM_001092.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25",46,22,0.48,{"$nulls":3},"A有","12309A","ABRA","chr8:107782065","c.354A>G(E1)","p.118,Y>Y","rs13259080",0.19,0.38,0.37,0.39,0.37,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ABRA",1,76,"同义",13203,"0.61=39/64",null,137735,"8q23.1","NM_139166.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25694",87,86,0.99,{"$nulls":3},"A有","12309A","ABT1","chr6:26597333","c.123A>G(E1)","p.41,K>K","rs3800302",0.71,0.76,0.82,0.71,0.75,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABT1",1,60,"同义",13203,"0.99=175/176",null,29777,"6p22.2","NM_013375.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25693",41,41,1,{"$nulls":3},"A有","12309A","ABT1","chr6:26598188","c.288A>G(E2)","p.96,G>G","rs3800303",0.52,0.67,0.72,0.61,0.59,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ABT1",1,60,"同义",13203,"1.00=68/68",null,29777,"6p22.2","NM_013375.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9923",2,2,1,{"$nulls":3},"A有","12309A","ACAA2","chr18:47309884","m.1924G>C(E10)","非编码区","rs7233791",0.1,0.14,0.17,0.11,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAA2",0.99,260,"非编码区",14200,"1.00=3/3",null,10449,"18q21.1","NM_006111.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9922",5,4,0.8,{"$nulls":3},"A有","12309A","ACAA2","chr18:47309909","m.1899A>G(E10)","非编码区","rs7237253",0.097,0.14,0.17,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAA2",0.99,260,"非编码区",14200,"0.83=5/6",null,10449,"18q21.1","NM_006111.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4359",94,94,1,{"$nulls":3},"A有","12309A","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",1,230,"同义",13203,"1.00=160/160",null,31,"17q21","NM_198834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4360",194,96,0.49,{"$nulls":3},"A有","12309A","ACACA","chr17:35609866","c.1923C>T(E15)","p.641,Q>Q","rs2229416",0.22,0.5,0.46,0.54,0.46,0.46,"杂合","无关","有rs号，MAF>=5%",19846279,"乙酰CoA羧化酶缺陷症","AR",613933,5,3,3,1,"ACACA",1,230,"同义",13203,"0.51=155/301",null,31,"17q21","NM_198834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4361",129,60,0.47,{"$nulls":3},"A有","12309A","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",1,230,"同义",13303,"0.42=78/184",null,31,"17q21","NM_198834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27114",24,24,1,{"$nulls":3},"A有","12309A","ACACB","chr12:109577735","c.525C>T(E1)","p.175,S>S","rs2878960",0.4,0.26,0.23,0.3,0.24,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=29/29",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"]
["12309A(99)v27113",56,56,1,{"$nulls":3},"A有","12309A","ACACB","chr12:109617865","c.1791T>C(E10)","p.597,D>D","rs11065772",0.68,0.74,0.7,0.78,0.77,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"1.00=90/90",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"]
["12309A(99)v27111",134,62,0.46,{"$nulls":3},"A有","12309A","ACACB","chr12:109629457","c.2184C>T(E13)","p.728,G>G","rs7135947",0.38,0.26,0.23,0.3,0.27,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"同义",13203,"0.49=140/287",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"]
["12309A(99)v27110",21,10,0.48,{"$nulls":3},"A有","12309A","ACACB","chr12:109670468","IVS27-6T>C","剪切位点","rs3742027",0.87,0.69,0.7,0.67,null,0.73,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"剪切位点",16202,"0.47=14/30",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"]
["12309A(99)v27109",85,41,0.48,{"$nulls":3},"A有","12309A","ACACB","chr12:109675029","c.4506T>C(E33)","p.1502,L>L","rs2241220",0.78,0.69,0.69,0.68,0.69,0.74,"杂合","无关","有rs号，MAF>=5%","18031993;19846279",{"$nulls":3},5,null,6,0,"ACACB",1,120,"同义",13203,"0.46=62/134",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"]
["12309A(99)v27112",101,100,0.99,{"$nulls":3},"A有","12309A","ACACB","chr12:109696838","c.6421G>A(E46)","p.2141,V>I","rs2075260",0.74,0.69,0.69,0.68,0.71,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACACB",1,120,"错义",12220,"0.99=185/186",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"]
["12309A(99)v22851",27,27,1,{"$nulls":3},"A有","12309A","ACAD10","chr12:112130708","IVS2+8A>G","非编码区","rs7132509",0.2,0.59,0.61,0.57,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,140,"非编码区",16203,"1.00=39/39",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"]
["12309A(99)v22852",7,7,1,{"$nulls":3},"A有","12309A","ACAD10","chr12:112191641","c.2976G>A(E20)","p.992,A>A","rs2074055",0.2,0.59,0.61,0.57,0.52,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACAD10",0.97,140,"同义",13203,"1.00=9/9",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"]
["12309A(99)v928",76,44,0.58,{"$nulls":3},"A有","12309A","ACAD11","chr3:132277866","c.2292G>A(E20)","p.764,I>I","rs2270801",0.089,0.11,0.11,0.12,0.095,0.098,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACAD11",1,270,"同义",13203,"0.60=76/127",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"]
["12309A(99)v929",225,101,0.45,{"$nulls":3},"A有","12309A","ACAD11","chr3:132338346","c.1241T>G(E10)","p.414,K>T","rs41272321",0.094,0.15,0.15,0.14,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACAD11",1,270,"错义",12210,"0.45=186/417",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"]
["12309A(99)v927",155,155,1,{"$nulls":3},"A有","12309A","ACAD11","chr3:132360883","c.470C>T(E4)","p.157,R>H","rs821572",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACAD11",1,270,"错义",12230,"1.00=284/285",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"]
["12309A(99)v30023",60,60,1,{"$nulls":3},"A有","12309A","ACAD9","chr3:128614185","c.379A>C(E4)","p.127,R>R","rs1680778",0.54,0.65,0.67,0.64,0.58,0.66,"纯合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,1,4,1,"ACAD9",1,120,"同义",13203,"1.00=105/105",null,28976,"3q21.3","NM_014049.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30021",103,46,0.45,{"$nulls":3},"A有","12309A","ACAD9","chr3:128618283","c.787T>C(E7)","p.263,L>L","rs1979529",0.048,0.062,0.048,0.078,0.065,0.066,"杂合","未知","预测范围之外的同义突变",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,4,3,4,1,"ACAD9",1,120,"同义",13103,"0.43=67/156",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"]
["12309A(99)v30022",22,22,1,{"$nulls":3},"A有","12309A","ACAD9","chr3:128627021","IVS12-7A>G","剪切位点","rs1683787",0.52,0.64,0.66,0.62,0.6,0.65,"纯合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,1,4,1,"ACAD9",1,120,"剪切位点",16202,"1.00=37/37",null,28976,"3q21.3","NM_014049.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30024",14,5,0.36,{"$nulls":3},"A有","12309A","ACAD9","chr3:128627933","c.1476C>T(E14)","p.492,P>P","rs876755",0.31,0.58,0.61,0.54,0.5,0.58,"杂合","无关","有rs号，MAF>=5%",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,4,1,"ACAD9",1,120,"同义",13203,"0.25=5/20",null,28976,"3q21.3","NM_014049.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14309",4,4,1,{"$nulls":3},"A有","12309A","ACADSB","chr10:124813543","m.1678C>T(E11)","非编码区","rs12248515",0.44,0.65,0.59,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,1,1,1,"ACADSB",1,250,"非编码区",14200,"1.00=4/4",null,36,"10q26.13","NM_001609.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17279",21,7,0.33,{"$nulls":3},"A有","12309A","ACADVL","chr17:7127718","IVS16+6T>C","剪切位点","rs17671352",0.52,0.47,0.46,0.48,0.52,0.48,"杂合","无关","有rs号，MAF>=5%",null,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,5,3,1,1,"ACADVL",0.95,69,"剪切位点",16201,"0.31=8/26",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"]
["12309A(99)v9867",62,62,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"纯合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=109/109",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9867",62,62,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=109/109",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"]
["12309A(99)v9867",62,62,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89391160","c.1623C>A(E9)","p.541,P>P","rs2272023",0.69,0.44,0.43,0.45,0.37,0.43,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=109/109",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9863",13,13,1,{"$nulls":3},"A有","12309A","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",165800,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=17/17",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"]
["12309A(99)v9863",13,13,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89392745","c.1809T>C(E10)","p.603,A>A","rs1568116",1,1,1,1,0.91,1,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=17/17",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9863",13,13,1,{"$nulls":3},"A有","12309A","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,612813,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=17/17",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"]
["12309A(99)v9862",75,75,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"纯合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,8,3,"ACAN",1,85,"同义",13303,"0.99=123/124",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9862",75,75,1,{"$nulls":3},"A有","12309A","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",608361,4,1,8,3,"ACAN",1,85,"同义",13303,"0.99=123/124",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"]
["12309A(99)v9862",75,75,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89398330","c.2514G>A(E12)","p.838,S>S","rs3743399",null,0.44,0.43,0.46,0.4,0.47,"纯合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,1,8,3,"ACAN",1,85,"同义",13303,"0.99=123/124",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9864",40,40,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"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",165800,5,1,8,3,"ACAN",1,85,"错义",12210,"1.00=46/46",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"]
["12309A(99)v9864",40,40,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"错义",12210,"1.00=46/46",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9864",40,40,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89398553","c.2737C>A(E12)","p.913,P>T","rs35430524",0.097,0.21,0.23,0.19,0.19,0.21,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"错义",12210,"1.00=46/46",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"]
["12309A(99)v9866",44,44,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"纯合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,85,"错义",12220,"0.98=60/61",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9866",44,44,1,{"$nulls":3},"A有","12309A","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",608361,5,1,8,3,"ACAN",1,85,"错义",12220,"0.98=60/61",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9866",44,44,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89401109","c.5293A>G(E12)","p.1765,I>V","rs4932439",0.76,0.44,0.43,0.46,0.4,0.46,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"错义",12220,"0.98=60/61",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9868",23,23,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"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",165800,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=36/36",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"]
["12309A(99)v9868",23,23,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=36/36",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9868",23,23,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89401615","c.5799T>G(E12)","p.1933,T>T","rs3825994",0.53,0.53,0.53,0.53,0.45,0.52,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=36/36",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"]
["12309A(99)v9865",55,55,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"纯合","无关","有rs号，MAF>=5%",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,85,"错义",12220,"1.00=96/96",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9865",55,55,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"纯合","无关","有rs号，MAF>=5%",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"错义",12220,"1.00=96/96",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"]
["12309A(99)v9865",55,55,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89402051","c.6235A>G(E12)","p.2079,I>V","rs1042630",0.65,0.55,0.56,0.54,0.46,0.54,"纯合","无关","有rs号，MAF>=5%",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,85,"错义",12220,"1.00=96/96",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9869",34,34,1,{"$nulls":3},"A有","12309A","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",165800,5,1,8,3,"ACAN",1,85,"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"]
["12309A(99)v9869",34,34,1,{"$nulls":3},"A有","12309A","ACAN","chr15:89402239","c.6423T>C(E12)","p.2141,L>L","rs1042631",0.74,0.6,0.61,0.59,0.48,0.58,"纯合","无关","有rs号，MAF>=5%",19180518,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,85,"同义",13203,"1.00=44/44",null,176,"15q26.1","NM_001135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9869",34,34,1,{"$nulls":3},"A有","12309A","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,612813,5,1,8,3,"ACAN",1,85,"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"]
["12309A(99)v3190",74,74,1,{"$nulls":3},"A有","12309A","ACAP2","chr3:194999996","m.2639T>A(E23)","非编码区","rs7610022",0.82,0.96,0.96,0.96,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACAP2",1,320,"非编码区",14200,"1.00=103/103",null,23527,"3q29","NM_012287.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17256",28,19,0.68,{"$nulls":3},"A有","12309A","ACAP3","chr1:1233941","IVS11+6T>C","剪切位点","rs1739855",0.5,0.75,0.8,0.7,null,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACAP3",0.82,13,"剪切位点",16202,"0.69=27/39",null,116983,"-","NM_030649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30326",62,26,0.42,{"$nulls":3},"A有","12309A","ACAT2","chr6:160196343","c.632A>G(E5)","p.211,K>R","rs25683",0.37,0.14,0.15,0.13,0.17,0.19,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,180,"错义",12220,"0.38=31/81",null,39,"6q25.3","NM_005891.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30328",153,70,0.46,{"$nulls":3},"A有","12309A","ACAT2","chr6:160198359","c.783C>T(E7)","p.261,V>V","rs3464",0.26,0.43,0.42,0.43,0.42,0.39,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,180,"同义",13203,"0.47=119/251",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"]
["12309A(99)v30327",106,105,0.99,{"$nulls":3},"A有","12309A","ACAT2","chr6:160199687","IVS8-4T>C","剪切位点","rs15982",0.68,0.57,0.57,0.56,null,0.58,"纯合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,1,4,1,"ACAT2",1,180,"剪切位点",16202,"0.99=172/173",null,39,"6q25.3","NM_005891.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30325",86,45,0.52,{"$nulls":3},"A有","12309A","ACAT2","chr6:160200026","m.1490A>C(E9)","非编码区","rs4832",0.26,0.43,0.42,0.43,null,0.4,"杂合","无关","有rs号，MAF>=5%",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,4,1,"ACAT2",1,180,"非编码区",14200,"0.52=67/129",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"]
["12309A(99)v4542",115,66,0.57,{"$nulls":3},"A有","12309A","ACBD5","chr10:27508746","c.426G>A(E6)","p.142,T>T","rs12572325",0.069,0.12,0.09,0.16,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACBD5",1,240,"同义",13203,"0.55=99/181",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"]
["12309A(99)v4540",115,51,0.44,{"$nulls":3},"A有","12309A","ACBD5","chr10:27508758","c.414T>C(E6)","p.138,P>P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACBD5",1,240,"同义",13203,"0.46=83/182",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"]
["12309A(99)v4541",33,33,1,{"$nulls":3},"A有","12309A","ACBD5","chr10:27529549","m.260C>A(E1)","非编码区","rs2797078",0.68,0.51,0.48,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACBD5",1,240,"非编码区",14200,"0.98=52/53",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"]
["12309A(99)v4539",37,36,0.97,{"$nulls":3},"A有","12309A","ACBD5","chr10:27529565","m.244T>C(E1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACBD5",1,240,"非编码区",14200,"0.98=57/58",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"]
["12309A(99)v5014",100,100,1,{"$nulls":3},"A有","12309A","ACCS","chr11:44096238","IVS5+7G>A","非编码区","rs178521",0.77,0.94,0.95,0.94,0.94,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACCS",1,85,"非编码区",16203,"1.00=196/196",null,84680,"11p11","NM_001127219.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27579",76,38,0.5,{"$nulls":3},"A有","12309A","ACCSL","chr11:44080210","c.1585T>C(E13)","p.529,C>R","rs2074051",0.79,0.87,0.87,0.88,0.86,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACCSL",1,130,"错义",12220,"0.54=64/119",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"]
["12309A(99)v22076",23,23,1,{"$nulls":3},"A有","12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22076",23,23,1,{"$nulls":3},"A有","12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22076",23,23,1,{"$nulls":3},"A有","12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22076",23,23,1,{"$nulls":3},"A有","12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22076",23,23,1,{"$nulls":3},"A有","12309A","ACE","chr17:61559923","c.1215C>T(E8)","p.405,P>P","rs4309",0.42,0.72,0.7,0.73,0.6,0.64,"纯合","无关","有rs号，MAF>=5%","17092869;18698231;19132786;20215856;20854388;24586218","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.98=42/43",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22078",17,17,1,{"$nulls":3},"A有","12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22078",17,17,1,{"$nulls":3},"A有","12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22078",17,17,1,{"$nulls":3},"A有","12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22078",17,17,1,{"$nulls":3},"A有","12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22078",17,17,1,{"$nulls":3},"A有","12309A","ACE","chr17:61562309","c.81C>T(E1)","p.27,P>P","rs4316",0.52,0.73,0.71,0.75,0.63,0.68,"纯合","无关","有rs号，MAF>=5%","12733698;24658007","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=27/27",null,1636,"17q23.3","NM_001178057.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22075",15,15,1,{"$nulls":3},"A有","12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22075",15,15,1,{"$nulls":3},"A有","12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22075",15,15,1,{"$nulls":3},"A有","12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22075",15,15,1,{"$nulls":3},"A有","12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22075",15,15,1,{"$nulls":3},"A有","12309A","ACE","chr17:61564052","c.2193A>G(E14)","p.731,A>A","rs4331",0.53,0.73,0.7,0.75,0.6,0.66,"纯合","无关","有rs号，MAF>=5%","12733698;15500681;17092869;20486282;21709586;24658007","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"1.00=22/22",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22074",77,77,1,{"$nulls":3},"A有","12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22074",77,77,1,{"$nulls":3},"A有","12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22074",77,77,1,{"$nulls":3},"A有","12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22074",77,77,1,{"$nulls":3},"A有","12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22074",77,77,1,{"$nulls":3},"A有","12309A","ACE","chr17:61566031","c.2328G>A(E16)","p.776,T>T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"纯合","无关","有rs号，MAF>=5%","14986105;16642441;17173513;17460369;18057531;18076107;18194558;18431000;18622756;18637188;18698231;18805939;18813964;19105203;19108684;19291311;19539712;20066004;20486282;20565774;20625269;20639399;20682755;21258267;21297258;21709586;21832968;22388798;23065222;24586218;24658007;24722536;24851853;24959828","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.99=126/127",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22077",19,18,0.95,{"$nulls":3},"A有","12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22077",19,18,0.95,{"$nulls":3},"A有","12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","肾小管发育不良","AR",267430,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22077",19,18,0.95,{"$nulls":3},"A有","12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","心肌梗塞,易感1型",null,608446,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22077",19,18,0.95,{"$nulls":3},"A有","12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","糖尿病微血管并发症,易感3型",null,612624,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22077",19,18,0.95,{"$nulls":3},"A有","12309A","ACE","chr17:61573761","c.3387T>C(E23)","p.1129,F>F","rs4362",0.59,0.68,0.66,0.71,0.55,0.61,"纯合","无关","有rs号，MAF>=5%","18057531;18076107;19105203;19132786;20416077;24586218;24622918","脑出血、中风（易感）",null,614519,5,1,5,5,"ACE",0.89,58,"同义",13203,"0.97=39/40",null,1636,"17q23.3","NM_000789.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25450",112,111,0.99,{"$nulls":3},"A有","12309A","ACE2","chrX:15610348","IVS4+4C>T","剪切位点","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ACE2",1,170,"剪切位点",16302,"0.99=182/183",null,59272,"Xp22","NM_021804.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27665",22,22,1,{"$nulls":3},"A有","12309A","ACER1","chr19:6312290","c.220T>C(E3)","p.74,M>V","rs72981971",0.16,0.37,0.36,0.39,0.33,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACER1",1,49,"错义",12220,"1.00=33/33",null,125981,"19p13.3","NM_133492.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30766",52,19,0.37,{"$nulls":3},"A有","12309A","ACIN1","chr14:23530622","c.3444T>C(E17)","p.1148,S>S","rs60168438",0.25,0.26,0.27,0.26,0.3,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"同义",13203,"0.29=22/77",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30770",50,17,0.34,{"$nulls":3},"A有","12309A","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",{"$nulls":4},4,null,8,0,"ACIN1",1,100,"插入非移码",2222,"0.33=18/54",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30768",39,16,0.41,{"$nulls":3},"A有","12309A","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,{"$nulls":3},5,null,8,0,"ACIN1",1,100,"错义",12220,"0.48=29/61",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30765",35,13,0.37,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"错义",12220,"0.46=27/59",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30769",36,35,0.97,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"错义",12230,"0.98=46/47",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30764",36,14,0.39,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"同义",13203,"0.44=21/48",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30767",117,117,1,{"$nulls":3},"A有","12309A","ACIN1","chr14:23549785","c.933T>C(E6)","p.311,I>M","rs3811182",0.5,0.46,0.49,0.44,0.45,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ACIN1",1,100,"错义",12220,"0.99=185/186",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30771",101,49,0.49,{"$nulls":3},"A有","12309A","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",{"$nulls":4},4,null,8,0,"ACIN1",1,100,"缺失非移码",2222,"0.48=53/110",null,22985,"14q11.2","NM_001164814.1","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12309A(99)v17549",83,83,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ACLY",1,110,"非编码区",14200,"0.99=156/158",null,47,"17q21.2","NM_001096.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17550",68,68,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ACLY",1,110,"同义",13203,"1.00=97/97",null,47,"17q21.2","NM_001096.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13516",89,39,0.44,{"$nulls":3},"A有","12309A","ACO1","chr9:32425910","c.1263A>G(E11)","p.421,E>E","rs3780473",0.35,0.58,0.57,0.59,0.51,0.54,"杂合","无关","有rs号，MAF>=5%","18755042;20403199",{"$nulls":3},5,null,2,0,"ACO1",1,230,"同义",13203,"0.46=70/153",null,48,"9p21.1","NM_002197.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13517",35,18,0.51,{"$nulls":3},"A有","12309A","ACO1","chr9:32450187","m.2903T>C(E21)","非编码区","rs12985",0.4,0.54,0.53,0.54,null,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACO1",1,230,"非编码区",14200,"0.49=22/45",null,48,"9p21.1","NM_002197.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v914",13,12,0.92,{"$nulls":3},"A有","12309A","ACO2","chr22:41903813","c.192A>C(E3)","p.64,T>T","rs137831",0.42,0.6,0.62,0.57,0.46,0.55,"纯合","无关","有rs号，MAF>=5%",null,"婴儿大脑-视网膜退化症","AR",614559,5,1,1,1,"ACO2",1,67,"同义",13203,"0.91=21/23",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"]
["12309A(99)v2375",5,5,1,{"$nulls":3},"A有","12309A","ACOT11","chr1:55060224","IVS5-5G>A","剪切位点","rs1755591",0.2,0.16,0.16,0.16,null,0.21,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACOT11",0.98,46,"剪切位点",16202,"1.00=10/10",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"]
["12309A(99)v2376",5,5,1,{"$nulls":3},"A有","12309A","ACOT11","chr1:55060362","c.605G>A(E6)","p.202,G>D","rs1702003",0.26,0.16,0.16,0.16,0.13,0.2,"纯合","无关","有rs号，MAF>=5%","15986317;16255080;19737746",{"$nulls":3},5,null,4,0,"ACOT11",0.98,46,"错义",12220,"1.00=8/8",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"]
["12309A(99)v2374",21,11,0.52,{"$nulls":3},"A有","12309A","ACOT11","chr1:55062960","c.636G>A(E7)","p.212,M>I","rs2304305",0.03,0.091,0.1,0.083,0.095,0.13,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ACOT11",0.98,46,"错义",12120,"0.50=20/40",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"]
["12309A(99)v2377",10,10,1,{"$nulls":3},"A有","12309A","ACOT11","chr1:55075993","m.3169G>A(E16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACOT11",0.98,46,"非编码区",14200,"1.00=16/16",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"]
["12309A(99)v10390",22,12,0.55,{"$nulls":3},"A有","12309A","ACOT13","chr6:24667323","m.61C>T(E1)","非编码区","rs17243157",0.11,0.062,0.048,0.078,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,250,"非编码区",14200,"0.57=13/23",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"]
["12309A(99)v10391",68,68,1,{"$nulls":3},"A有","12309A","ACOT13","chr6:24687765","m.443A>G(E2)","非编码区","rs926529",0.8,0.87,0.88,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT13",1,250,"非编码区",14200,"1.00=89/89",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"]
["12309A(99)v1003",24,24,1,{"$nulls":3},"A有","12309A","ACOT2","chr14:74041748","c.983A>G(E3)","p.328,H>R","rs149033118",{"$nulls":4},0.86,0.93,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"ACOT2",0.84,85,"错义",12310,"1.00=26/26",null,10965,"14q24.3","NM_006821.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1004",68,68,1,{"$nulls":3},"A有","12309A","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",0.84,85,"错义",12320,"1.00=102/102",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"]
["12309A(99)v23467",3,3,1,{"$nulls":3},"A有","12309A","ACOT4","chr14:74058832","c.169C>T(E1)","p.57,R>C","rs3742819",0.4,0.62,0.61,0.64,0.56,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT4",0.92,90,"错义",12220,"1.00=4/4",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"]
["12309A(99)v23466",58,58,1,{"$nulls":3},"A有","12309A","ACOT4","chr14:74061968","c.876T>C(E3)","p.292,I>I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOT4",0.92,90,"同义",13203,"1.00=82/82",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"]
["12309A(99)v10195",62,62,1,{"$nulls":3},"A有","12309A","ACOT6","chr14:74083846","m.299C>T(E1)","非编码区","rs12891009",0.46,0.65,0.64,0.66,0.64,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACOT6",1,150,"非编码区",14200,"1.00=102/102",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"]
["12309A(99)v12756",56,56,1,{"$nulls":3},"A有","12309A","ACOX1","chr17:73949540","c.822G>C(E7)","p.274,I>M","rs1135640",0.55,0.79,0.82,0.77,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,5,1,1,1,"ACOX1",1,170,"错义",12220,"1.00=73/73",null,51,"17q25.1","NM_001185039.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7806",22,8,0.36,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"同义",13203,"0.40=17/43",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7807",17,6,0.35,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"同义",13203,"0.45=13/29",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7808",36,36,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"ACOX2",1,100,"非编码区",14200,"1.00=66/66",null,8309,"3p14.3","NM_003500.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17982",53,26,0.49,{"$nulls":3},"A有","12309A","ACOX3","chr4:8368604","m.2211C>T(E17)","非编码区","rs708244",0.27,0.31,0.31,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOX3",1,110,"非编码区",14200,"0.54=39/72",null,8310,"4p15.3","NM_001101667.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17983",34,15,0.44,{"$nulls":3},"A有","12309A","ACOX3","chr4:8375342","c.1842G>A(E16)","p.614,S>S","rs2280571",0.14,0.14,0.13,0.16,0.12,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACOX3",1,110,"同义",13203,"0.41=24/59",null,8310,"4p15.3","NM_003501.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19204",142,71,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ACOXL",1,170,"错义",12210,"0.50=123/248",null,55289,"2q13","NM_001142807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19203",146,73,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ACOXL",1,170,"错义",12210,"0.48=127/264",null,55289,"2q13","NM_001142807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3200",4,4,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ACP1",1,210,"非编码区",14200,"1.00=5/5",null,52,"2p25","NM_001040649.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12921",56,56,1,{"$nulls":3},"A有","12309A","ACP2","chr11:47270255","c.86C>T(E1)","p.29,R>Q","rs2167079",0.52,0.75,0.79,0.71,0.66,0.76,"纯合","无关","有rs号，MAF>=5%","17357082;19060910","酸性磷酸酶缺乏症","AR",200950,5,1,1,1,"ACP2",1,68,"错义",12220,"1.00=87/87",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"]
["12309A(99)v26173",12,5,0.42,{"$nulls":3},"A有","12309A","ACP5","chr19:11685775","m.1308A>T(E6)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",null,"脊柱软骨发育不全伴免疫失调","AD,AR",607944,3,1,1,1,"ACP5",1,44,"非编码区",14400,"0.45=9/20",null,54,"19p13.3-p13.2","NM_001111034.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11548",122,64,0.52,{"$nulls":3},"A有","12309A","ACP6","chr1:147119273","c.1239G>A(E10)","p.413,H>H","rs1344",0.48,0.39,0.43,0.34,0.33,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACP6",0.99,160,"同义",13203,"0.55=110/201",null,51205,"1q21","NM_016361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11550",72,72,1,{"$nulls":3},"A有","12309A","ACP6","chr1:147121977","c.946C>T(E8)","p.316,V>M","rs6593795",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACP6",0.99,160,"错义",12220,"1.00=136/136",null,51205,"1q21","NM_016361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11549",43,43,1,{"$nulls":3},"A有","12309A","ACP6","chr1:147124310","c.823T>G(E7)","p.275,R>R","rs2153463",{"$nulls":4},0.7,0.71,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ACP6",0.99,160,"同义",13303,"1.00=80/80",null,51205,"1q21","NM_016361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11546",114,50,0.44,{"$nulls":3},"A有","12309A","ACP6","chr1:147131501","IVS3+10A>T","非编码区","rs34675044",0.26,0.099,0.11,0.087,null,0.094,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACP6",0.99,160,"非编码区",16203,"0.43=74/174",null,51205,"1q21","NM_016361.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1637",125,60,0.48,{"$nulls":3},"A有","12309A","ACPL2","chr3:140998214","IVS3-6G>A","剪切位点","rs13087169",0.57,0.52,0.5,0.53,null,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPL2",1,140,"剪切位点",16202,"0.48=96/202",null,92370,"3q23","NM_001037172.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1636",54,54,1,{"$nulls":3},"A有","12309A","ACPL2","chr3:141011630","c.1026C>T(E6)","p.342,F>F","rs3210458",0.1,0.13,0.11,0.14,0.091,0.1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACPL2",1,140,"同义",13203,"1.00=82/82",null,92370,"3q23","NM_001037172.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21629",5,5,1,{"$nulls":3},"A有","12309A","ACPP","chr3:132086825","m.1506G>A(E11)","非编码区","rs2198765",0.52,0.84,0.83,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACPP",1,210,"非编码区",14200,"1.00=5/5",null,55,"3q22.1","NM_001134194.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12924",28,28,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ACPT",0.96,18,"错义",12220,"1.00=36/36",null,93650,"19q13.4","NM_033068.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12922",29,29,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ACPT",0.96,18,"错义",12220,"1.00=37/37",null,93650,"19q13.4","NM_033068.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2238",61,61,1,{"$nulls":3},"A有","12309A","ACR","chr22:51182485","IVS3-4A>G","剪切位点","rs6009961",0.64,0.4,0.39,0.42,null,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,79,"剪切位点",16202,"1.00=93/93",null,49,"22q13.33","NM_001097.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2237",72,59,0.82,{"$nulls":3},"A有","12309A","ACR","chr22:51183255","c.886A>G(E5)","p.296,M>V","rs5771002",0.73,0.82,0.8,0.84,0.71,0.81,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACR",1,79,"错义",12220,"0.79=87/110",null,49,"22q13.33","NM_001097.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13340",18,18,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ACRBP",1,97,"非编码区",14200,"1.00=22/22",null,84519,"12p13.31","NM_032489.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13341",37,37,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ACRBP",1,97,"剪切位点",16202,"1.00=52/52",null,84519,"12p13.31","NM_032489.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8463",162,161,0.99,{"$nulls":3},"A有","12309A","ACSBG2","chr19:6156483","c.428T>C(E5)","p.143,V>A","rs4807840",0.71,0.72,0.75,0.69,0.69,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSBG2",1,160,"错义",12220,"1.00=327/328",null,81616,"19p13.3","NM_030924.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24871",21,12,0.57,{"$nulls":3},"A有","12309A","ACSF2","chr17:48549791","c.1326C>G(E12)","p.442,A>A","rs2305998",0.19,0.13,0.13,0.13,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSF2",1,79,"剪切位点",13202,"0.58=18/31",null,80221,"17q21.33","NM_025149.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22927",8,5,0.62,{"$nulls":3},"A有","12309A","ACSF3","chr16:89180765","c.996A>T(E5)","p.332,S>S","rs75591977",0.05,0.13,0.13,0.13,0.093,0.13,"杂合","未知","预测范围之外的同义突变",null,"联合丙二酸和甲基丙二酸尿症",null,614265,4,2,2,1,"ACSF3",1,48,"同义",13103,"0.67=8/12",null,197322,"16q24.3","NM_001127214.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22926",5,4,0.8,{"$nulls":3},"A有","12309A","ACSF3","chr16:89180883","c.1114G>A(E5)","p.372,V>M","rs3743979",0.63,0.46,0.4,0.51,0.42,0.48,"杂合","无关","有rs号，MAF>=5%",19875614,"联合丙二酸和甲基丙二酸尿症",null,614265,5,2,2,1,"ACSF3",1,48,"错义",12220,"0.90=9/10",null,197322,"16q24.3","NM_001127214.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2679",3,3,1,{"$nulls":3},"A有","12309A","ACSL1","chr4:185677952","m.2602G>A(E21)","非编码区","rs4862412",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"1.00=4/4",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2681",25,9,0.36,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"0.36=10/28",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2682",30,30,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"非编码区",14200,"1.00=34/34",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2680",82,82,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ACSL1",1,220,"同义",13203,"1.00=137/137",null,2180,"4q35","NM_001995.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24180",133,133,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ACSL3",1,320,"非编码区",16203,"1.00=217/218",null,2181,"2q34-q35","NM_004457.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21597",90,89,0.99,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ACSL5",1,200,"非编码区",16203,"0.99=163/164",null,51703,"10q25.1-q25.2","NM_016234.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22553",84,46,0.55,{"$nulls":3},"A有","12309A","ACSM1","chr16:20634775","m.1835T>C(E13)","非编码区","rs3087812",0.35,0.37,0.37,0.36,null,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"非编码区",14200,"0.54=69/127",null,116285,"16p12.3","NM_052956.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22552",112,62,0.55,{"$nulls":3},"A有","12309A","ACSM1","chr16:20635418","c.1647C>T(E12)","p.549,K>K","rs3743690",0.18,0.5,0.46,0.53,0.46,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"剪切位点",13201,"0.61=119/196",null,116285,"16p12.3","NM_052956.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22550",14,3,0.21,{"$nulls":3},"A有","12309A","ACSM1","chr16:20636814","c.1458G>A(E11)","p.486,S>S","rs2301672",0.18,0.5,0.46,0.53,0.4,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"同义",13203,"0.24=6/25",null,116285,"16p12.3","NM_052956.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22551",116,116,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"同义",13203,"1.00=198/198",null,116285,"16p12.3","NM_052956.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22549",118,56,0.47,{"$nulls":3},"A有","12309A","ACSM1","chr16:20648702","c.1188G>A(E8)","p.396,Y>Y","rs151328",0.35,0.37,0.38,0.35,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACSM1",1,150,"同义",13203,"0.45=101/224",null,116285,"16p12.3","NM_052956.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6574",174,83,0.48,{"$nulls":3},"A有","12309A","ACSM2A","chr16:20471450","c.14G>A(E3)","p.5,R>Q","rs59292608",0.17,0.36,0.34,0.38,0.36,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"错义",12220,"0.45=118/263",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6572",82,67,0.82,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"错义",12220,"0.80=117/146",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6577",103,40,0.39,{"$nulls":3},"A有","12309A","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",{"$nulls":4},1,null,6,0,"ACSM2A",1,280,"截断",15100,"0.35=61/175",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6576",225,201,0.89,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"同义",13203,"0.84=313/372",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6575",182,181,0.99,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"错义",12230,"0.99=229/231",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6573",82,48,0.59,{"$nulls":3},"A有","12309A","ACSM2A","chr16:20498079","m.2052T>G(E15)","非编码区","rs2072080",0.79,0.6,0.63,0.57,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2A",1,280,"非编码区",14200,"0.58=61/106",null,123876,"16p12.3","NM_001010845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23857",12,3,0.25,{"$nulls":3},"A有","12309A","ACSM2B","chr16:20548334","m.2155C>T(E14)","非编码区","rs7404298",0.81,0.67,0.72,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"非编码区",14200,"0.23=3/13",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23855",128,64,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"同义",13203,"0.51=119/233",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23860",100,55,0.55,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"同义",13203,"0.57=86/152",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23859",185,93,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"错义",12220,"0.50=178/359",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23858",65,65,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"错义",12220,"1.00=82/82",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23856",254,123,0.48,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,6,0,"ACSM2B",1,300,"同义",13203,"0.47=223/471",null,348158,"16p12.3","NM_001105069.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16311",106,59,0.56,{"$nulls":3},"A有","12309A","ACSM3","chr16:20792188","IVS5+9T>C","非编码区","rs5715",0.63,0.43,0.46,0.4,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSM3",1,300,"非编码区",16203,"0.49=82/168",null,6296,"16p13.11","NM_005622.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6601",63,37,0.59,{"$nulls":3},"A有","12309A","ACSM4","chr12:7459340","IVS2+1G>A","剪切位点",{"$nulls":7},"杂合","较高","突变在经典剪切位点上",{"$nulls":4},1,null,2,0,"ACSM4",1,200,"剪切位点",16404,"0.59=57/96",null,341392,"12p13.31","NM_001080454.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6602",61,61,1,{"$nulls":3},"A有","12309A","ACSM4","chr12:7463241","c.519A>T(E3)","p.173,P>P","rs7968241",null,0.39,0.38,0.4,0.41,0.38,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACSM4",1,200,"同义",13303,"0.99=116/117",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"]
["12309A(99)v14003",55,55,1,{"$nulls":3},"A有","12309A","ACSM5","chr16:20441053","c.1055C>G(E8)","p.352,P>R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM5",1,150,"错义",12210,"1.00=80/80",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"]
["12309A(99)v14004",63,63,1,{"$nulls":3},"A有","12309A","ACSM5","chr16:20441084","c.1086T>C(E8)","p.362,T>T","rs8063682",0.54,0.72,0.67,0.78,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACSM5",1,150,"同义",13203,"1.00=94/94",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"]
["12309A(99)v14006",124,38,0.31,{"$nulls":3},"A有","12309A","ACSM5","chr16:20442608","c.1273C>A(E10)","p.425,P>T","rs79364355",{"$nulls":4},0.37,0.46,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ACSM5",1,150,"错义",12310,"0.36=81/224",null,54988,"16p12.3","NM_017888.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14005",119,38,0.32,{"$nulls":3},"A有","12309A","ACSM5","chr16:20442613","c.1278T>C(E10)","p.426,T>T","rs77351186",{"$nulls":4},0.37,0.46,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ACSM5",1,150,"同义",13303,"0.37=83/224",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"]
["12309A(99)v6176",13,13,1,{"$nulls":3},"A有","12309A","ACSS1","chr20:25038484","c.255G>T(E1)","p.85,T>T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACSS1",0.97,73,"同义",13203,"1.00=20/20",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"]
["12309A(99)v31314",3,2,0.67,{"$nulls":3},"A有","12309A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"家族性胸主动脉瘤6型",null,611788,5,2,1,3,"ACTA2",1,160,"非编码区",14200,"0.67=2/3",null,59,"10q23.3","NM_001141945.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31314",3,2,0.67,{"$nulls":3},"A有","12309A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"多系统平滑肌功能障碍综合征","AD",613834,5,1,1,3,"ACTA2",1,160,"非编码区",14200,"0.67=2/3",null,59,"10q23.3","NM_001141945.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31314",3,2,0.67,{"$nulls":3},"A有","12309A","ACTA2","chr10:90750909","m.239C>T(E1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%",null,"烟雾病5型",null,614042,5,2,1,3,"ACTA2",1,160,"非编码区",14200,"0.67=2/3",null,59,"10q23.3","NM_001141945.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23010",47,21,0.45,{"$nulls":3},"A有","12309A","ACTB","chr7:5567307","m.1284A>T(E6)","非编码区","rs147293109",0.0052,0.036,0.038,0.034,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"Baraitser-Winter综合征1","AD",243310,3,1,1,2,"ACTB",1,60,"非编码区",14100,"0.44=28/64",null,60,"7p22","NM_001101.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23010",47,21,0.45,{"$nulls":3},"A有","12309A","ACTB","chr7:5567307","m.1284A>T(E6)","非编码区","rs147293109",0.0052,0.036,0.038,0.034,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"青少年肌张力障碍","AD",607371,3,1,1,2,"ACTB",1,60,"非编码区",14100,"0.44=28/64",null,60,"7p22","NM_001101.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11964",32,32,1,{"$nulls":3},"A有","12309A","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",604717,5,1,2,2,"ACTG1",1,45,"同义",13203,"1.00=51/51",null,71,"17q25","NM_001199954.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11964",32,32,1,{"$nulls":3},"A有","12309A","ACTG1","chr17:79478019","c.918G>A(E5)","p.306,Y>Y","rs1139405",0.76,0.87,0.88,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Baraitser-Winter综合征2",null,614583,5,1,2,2,"ACTG1",1,45,"同义",13203,"1.00=51/51",null,71,"17q25","NM_001199954.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11963",28,13,0.46,{"$nulls":3},"A有","12309A","ACTG1","chr17:79479366","c.15G>T(E2)","p.5,I>I","rs199657153",{"$nulls":4},3.8E-3,0.0027,"杂合","未知","预测范围之外的同义突变",null,"常染色体显性遗传性耳聋20型","AD",604717,4,1,2,2,"ACTG1",1,45,"同义",13303,"0.47=22/47",null,71,"17q25","NM_001199954.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11963",28,13,0.46,{"$nulls":3},"A有","12309A","ACTG1","chr17:79479366","c.15G>T(E2)","p.5,I>I","rs199657153",{"$nulls":4},3.8E-3,0.0027,"杂合","未知","预测范围之外的同义突变",null,"Baraitser-Winter综合征2",null,614583,4,2,2,2,"ACTG1",1,45,"同义",13303,"0.47=22/47",null,71,"17q25","NM_001199954.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15091",14,14,1,{"$nulls":3},"A有","12309A","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",1,140,"非编码区",14200,"1.00=18/18",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"]
["12309A(99)v15089",90,90,1,{"$nulls":3},"A有","12309A","ACTG2","chr2:74135797","IVS2-3T>C","剪切位点","rs702461",0.58,0.59,0.61,0.57,null,0.49,"纯合","无关","有rs号，MAF>=5%",null,"内脏肌病","AD",155310,5,1,3,1,"ACTG2",1,140,"剪切位点",16202,"1.00=139/139",null,72,"2p13.1","NM_001199893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15090",105,105,1,{"$nulls":3},"A有","12309A","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",1,140,"同义",13203,"0.99=165/166",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"]
["12309A(99)v10719",2,2,1,{"$nulls":3},"A有","12309A","ACTL10","chr20:32254831","m.528G>T(E1)","非编码区","rs7263119",0.66,0.8,0.79,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL10",0.75,2.7,"非编码区",14200,"1.00=3/3",null,170487,"20q11.22","NM_001024675.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27983",146,146,1,{"$nulls":3},"A有","12309A","ACTL6A","chr3:179298999","c.1017C>T(E11)","p.339,D>D","rs1132429",null,0.91,0.93,0.89,0.9,0.89,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACTL6A",1,350,"同义",13303,"1.00=279/279",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"]
["12309A(99)v14252",11,11,1,{"$nulls":3},"A有","12309A","ACTL6B","chr7:100240771","m.1486A>T(E14)","非编码区","rs1052897",0.89,0.91,0.9,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL6B",0.98,44,"非编码区",14200,"0.94=15/16",null,51412,"7q22","NM_016188.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26563",16,16,1,{"$nulls":3},"A有","12309A","ACTL7A","chr9:111625913","m.1311A>G(E1)","非编码区","rs4978370",0.88,0.84,0.82,0.86,null,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL7A",1,77,"非编码区",14200,"1.00=27/27",null,10881,"9q31","NM_006687.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22156",35,35,1,{"$nulls":3},"A有","12309A","ACTL8","chr1:18149566","c.63C>A(E2)","p.21,G>G","rs2296035",0.48,0.68,0.7,0.67,0.62,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTL8",1,32,"同义",13203,"1.00=53/53",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"]
["12309A(99)v4787",3,3,1,{"$nulls":3},"A有","12309A","ACTL9","chr19:8808373","c.679G>T(E1)","p.227,H>N","rs4804079",0.6,0.68,0.66,0.7,0.54,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL9",0.98,6.7,"错义",12220,"1.00=4/4",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"]
["12309A(99)v4786",13,13,1,{"$nulls":3},"A有","12309A","ACTL9","chr19:8808900","c.152A>G(E1)","p.51,V>A","rs10410943",null,0.85,0.86,0.84,0.8,0.86,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"ACTL9",0.98,6.7,"错义",12320,"1.00=19/19",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"]
["12309A(99)v4785",9,9,1,{"$nulls":3},"A有","12309A","ACTL9","chr19:8808942","c.110A>G(E1)","p.37,F>S","rs2340550",0.79,0.85,0.86,0.84,0.79,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTL9",0.98,6.7,"错义",12220,"1.00=15/15",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"]
["12309A(99)v19596",83,43,0.52,{"$nulls":3},"A有","12309A","ACTN1","chr14:69378863","IVS4+10A>G","非编码区","rs2070280",0.32,0.63,0.66,0.61,0.66,0.63,"杂合","无关","有rs号，MAF>=5%",null,"血小板型出血性疾病","AD",615193,5,1,1,1,"ACTN1",1,71,"非编码区",16203,"0.55=76/137",null,87,"14q24|14q22-q24","NM_001102.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5956",9,4,0.44,{"$nulls":3},"A有","12309A","ACTN2","chr1:236849979","c.6C>A(E1)","p.2,N>K",{"$nulls":6},1.2E-4,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"扩张型心肌病1AA型",null,612158,3,2,5,1,"ACTN2",1,150,"错义",12420,"0.33=5/15",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5957",117,117,1,{"$nulls":3},"A有","12309A","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=194/194",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"]
["12309A(99)v5955",143,143,1,{"$nulls":3},"A有","12309A","ACTN2","chr1:236883421","c.378C>T(E4)","p.126,N>N","rs1341863",0.92,0.98,0.99,0.97,0.94,0.98,"纯合","无关","有rs号，MAF>=5%",24938736,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,150,"同义",13203,"1.00=246/246",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5958",29,29,1,{"$nulls":3},"A有","12309A","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,"1.00=41/41",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"]
["12309A(99)v5954",8,8,1,{"$nulls":3},"A有","12309A","ACTN2","chr1:236926030","m.3000A>G(E21)","非编码区","rs1051251",0.35,0.37,0.35,0.38,null,null,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1AA型",null,612158,5,1,5,1,"ACTN2",1,150,"非编码区",14200,"1.00=12/12",null,88,"1q42-q43","NM_001103.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8151",70,69,0.99,{"$nulls":3},"A有","12309A","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",0.94,49,"同义",13203,"0.99=136/137",null,81,"19q13","NM_004924.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8435",5,3,0.6,{"$nulls":3},"A有","12309A","ACTR10","chr14:58666882","m.50A>G(E1)","非编码区","rs61975916",0.38,0.38,0.41,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTR10",1,370,"非编码区",14200,"0.57=4/7",null,55860,"14q23.1","NM_018477.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30363",53,24,0.45,{"$nulls":3},"A有","12309A","ACTR1B","chr2:98273661","IVS9-6A>G","剪切位点","rs2290124",0.53,0.38,0.33,0.43,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTR1B",1,58,"剪切位点",16202,"0.41=31/76",null,10120,"2q11.1-q11.2","NM_005735.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30362",19,5,0.26,{"$nulls":3},"A有","12309A","ACTR1B","chr2:98274527","c.804G>C(E8)","p.268,V>V","rs1042705",0.53,0.38,0.33,0.43,0.36,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTR1B",1,58,"同义",13203,"0.23=6/26",null,10120,"2q11.1-q11.2","NM_005735.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19958",129,128,0.99,{"$nulls":3},"A有","12309A","ACTR2","chr2:65481008","IVS6+10A>C","非编码区","rs268871",0.79,0.81,0.8,0.82,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",16203,"0.98=234/238",null,10097,"2p14","NM_001005386.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19957",138,138,1,{"$nulls":3},"A有","12309A","ACTR2","chr2:65495887","m.1434G>A(E10)","非编码区","rs268875",0.81,0.73,0.72,0.73,null,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",14200,"1.00=227/227",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19956",20,20,1,{"$nulls":3},"A有","12309A","ACTR2","chr2:65496018","m.1565C>G(E10)","非编码区","rs11424",0.4,0.74,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",14200,"1.00=22/22",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19959",5,5,1,{"$nulls":3},"A有","12309A","ACTR2","chr2:65496144","m.1691A>G(E10)","非编码区","rs190577",0.81,0.8,0.79,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",14200,"1.00=5/5",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19955",5,5,1,{"$nulls":3},"A有","12309A","ACTR2","chr2:65496187","m.1734G>A(E10)","非编码区","rs12560",0.4,0.74,0.74,0.75,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ACTR2",1,300,"非编码区",14200,"1.00=5/5",null,10097,"2p14","NM_001005386.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16944",139,62,0.45,{"$nulls":3},"A有","12309A","ACTR5","chr20:37396120","c.1447A>G(E8)","p.483,I>V","rs2245231",0.43,0.42,0.41,0.42,0.38,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,110,"错义",12220,"0.44=109/247",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"]
["12309A(99)v16943",12,7,0.58,{"$nulls":3},"A有","12309A","ACTR5","chr20:37400490","m.1880G>A(E9)","非编码区","rs6128952",0.16,0.14,0.14,0.15,null,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ACTR5",0.79,110,"非编码区",14200,"0.62=10/16",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"]
["12309A(99)v16942",9,6,0.67,{"$nulls":3},"A有","12309A","ACTR5","chr20:37400515","m.1905T>A(E9)","非编码区","rs6128953",0.032,0.05,0.043,0.058,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ACTR5",0.79,110,"非编码区",14100,"0.69=9/13",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"]
["12309A(99)v16256",66,66,1,{"$nulls":3},"A有","12309A","ACTR8","chr3:53905308","c.1518T>C(E11)","p.506,G>G","rs1046677",0.69,0.94,0.93,0.96,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR8",1,200,"同义",13203,"0.99=96/97",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16257",122,121,0.99,{"$nulls":3},"A有","12309A","ACTR8","chr3:53906513","c.1200G>A(E10)","p.400,I>I","rs4687757",0.69,0.94,0.93,0.96,0.92,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR8",1,200,"同义",13203,"1.00=210/211",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16259",58,58,1,{"$nulls":3},"A有","12309A","ACTR8","chr3:53911783","IVS3-5A>G","剪切位点","rs2276842",0.14,0.21,0.21,0.21,null,0.25,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR8",1,200,"剪切位点",16202,"1.00=92/92",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16258",105,105,1,{"$nulls":3},"A有","12309A","ACTR8","chr3:53914093","c.167G>A(E2)","p.56,T>I","rs3733082",0.11,0.094,0.1,0.087,0.12,0.13,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ACTR8",1,200,"错义",12220,"1.00=155/155",null,93973,"-","NM_022899.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26388",9,9,1,{"$nulls":3},"A有","12309A","ACTRT2","chr1:2938989","c.739G>A(E1)","p.247,G>R","rs3795263",0.12,0.13,0.14,0.12,0.11,0.14,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACTRT2",1,40,"错义",12210,"1.00=15/15",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"]
["12309A(99)v1566",57,56,0.98,{"$nulls":3},"A有","12309A","ACTRT3","chr3:169486144","IVS1-6A>G","剪切位点","rs9822885",0.43,0.7,0.68,0.72,null,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,180,"剪切位点",16202,"0.99=94/95",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"]
["12309A(99)v1565",2,2,1,{"$nulls":3},"A有","12309A","ACTRT3","chr3:169487501","m.183T>C(E1)","非编码区","rs9811216",0.38,0.7,0.68,0.72,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACTRT3",1,180,"非编码区",14200,"1.00=2/2",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"]
["12309A(99)v10891",140,139,0.99,{"$nulls":3},"A有","12309A","ACVR1","chr2:158626980","c.690C>T(E7)","p.230,E>E","rs1146031",0.91,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%","18781190;19299629;23644028","进行性骨化性纤维发育不良","AD",135100,5,1,2,1,"ACVR1",1,220,"同义",13203,"1.00=249/250",null,90,"2q23-q24","NM_001105.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10892",44,44,1,{"$nulls":3},"A有","12309A","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",1,220,"同义",13203,"0.99=68/69",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"]
["12309A(99)v21432",222,222,1,{"$nulls":3},"A有","12309A","ACVR1C","chr2:158395079","IVS8+6C>G","剪切位点","rs7576514",0.84,0.92,0.95,0.9,null,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ACVR1C",0.95,250,"剪切位点",16202,"1.00=398/399",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"]
["12309A(99)v21433",136,72,0.53,{"$nulls":3},"A有","12309A","ACVR1C","chr2:158443889","c.114G>A(E2)","p.38,F>F","rs4556933",0.44,0.32,0.34,0.31,0.31,0.31,"杂合","无关","有rs号，MAF>=5%",18781190,{"$nulls":3},5,null,2,0,"ACVR1C",0.95,250,"同义",13203,"0.53=136/255",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"]
["12309A(99)v9143",150,69,0.46,{"$nulls":3},"A有","12309A","ACVR2A","chr2:148657117","c.354G>A(E3)","p.118,P>P","rs1128919",0.35,0.48,0.52,0.44,0.51,0.52,"杂合","无关","有rs号，MAF>=5%",19126782,{"$nulls":3},5,null,1,0,"ACVR2A",1,260,"同义",13203,"0.43=111/260",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"]
["12309A(99)v19948",2,2,1,{"$nulls":3},"A有","12309A","ACY3","chr11:67414492","c.23C>T(E3)","p.8,R>Q","rs948445",0.72,0.78,0.79,0.78,0.54,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACY3",1,36,"错义",12220,"1.00=2/2",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"]
["12309A(99)v14077",95,94,0.99,{"$nulls":3},"A有","12309A","ACYP1","chr14:75520065","m.470T>C(E3)","非编码区","rs7303",0.5,0.83,0.82,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ACYP1",1,190,"非编码区",14200,"0.99=131/132",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"]
["12309A(99)v13896",50,27,0.54,{"$nulls":3},"A有","12309A","ADA","chr20:43252915","c.534T>C(E6)","p.178,V>V","rs244076",0.27,0.14,0.12,0.17,0.16,0.15,"杂合","无关","有rs号，MAF>=5%",19902562,"由于腺苷脱氨酶缺陷症导致的常染色体隐性遗传重症联合免疫缺陷（T细胞B细胞NK细胞抑制型）","AR",102700,5,3,2,1,"ADA",0.97,97,"同义",13203,"0.51=41/80",null,100,"20q13.12","NM_000022.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13895",74,73,0.99,{"$nulls":3},"A有","12309A","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",102700,5,1,2,1,"ADA",0.97,97,"剪切位点",13202,"0.99=125/126",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"]
["12309A(99)v7350",2,2,1,{"$nulls":3},"A有","12309A","ADAD2","chr16:84229559","c.1191T>C(E7)","p.397,S>S","rs2303238",0.81,0.71,0.69,0.73,0.58,0.71,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAD2",0.95,16,"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"]
["12309A(99)v7349",2,2,1,{"$nulls":3},"A有","12309A","ADAD2","chr16:84229580","c.1212C>T(E7)","p.404,A>A","rs2303239",0.29,0.3,0.25,0.34,0.23,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAD2",0.95,16,"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"]
["12309A(99)v11919",6,6,1,{"$nulls":3},"A有","12309A","ADAM11","chr17:42851729","c.1059C>T(E12)","p.353,H>H","rs35936481",0.65,0.78,0.77,0.79,0.64,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=8/8",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"]
["12309A(99)v11920",11,11,1,{"$nulls":3},"A有","12309A","ADAM11","chr17:42852604","c.1245G>T(E15)","p.415,S>S","rs1558083",0.65,0.77,0.76,0.79,0.77,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=18/18",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"]
["12309A(99)v11918",11,11,1,{"$nulls":3},"A有","12309A","ADAM11","chr17:42852610","c.1251T>C(E15)","p.417,C>C","rs1558084",0.9,0.87,0.87,0.87,0.83,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=18/18",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"]
["12309A(99)v11917",9,9,1,{"$nulls":3},"A有","12309A","ADAM11","chr17:42854610","c.1758T>C(E21)","p.586,S>S","rs8075210",0.65,0.77,0.76,0.79,0.74,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=14/14",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"]
["12309A(99)v11916",28,28,1,{"$nulls":3},"A有","12309A","ADAM11","chr17:42855554","c.2220T>C(E25)","p.740,I>I","rs2070605",0.65,0.77,0.76,0.79,0.79,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM11",0.93,28,"同义",13203,"1.00=39/39",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"]
["12309A(99)v24007",44,44,1,{"$nulls":3},"A有","12309A","ADAM12","chr10:127724778","c.2475A>G(E21)","p.825,A>A","rs1044122",0.27,0.45,0.47,0.44,0.38,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAM12",0.97,160,"同义",13203,"1.00=67/67",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"]
["12309A(99)v24006",40,23,0.57,{"$nulls":3},"A有","12309A","ADAM12","chr10:127737918","c.1830T>A(E16)","p.610,G>G","rs184387932",0.0004,0.0048,0.0095,0,0.0057,0.0065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAM12",0.97,160,"同义",13103,"0.61=37/61",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"]
["12309A(99)v24008",185,98,0.53,{"$nulls":3},"A有","12309A","ADAM12","chr10:128019025","c.142C>G(E2)","p.48,G>R","rs3740199",null,0.47,0.44,0.5,0.5,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害","16385451;19268722;23491141",{"$nulls":3},3,null,3,0,"ADAM12",0.97,160,"错义",12320,"0.51=165/323",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"]
["12309A(99)v31477",11,11,1,{"$nulls":3},"A有","12309A","ADAM15","chr1:155026942","c.602A>C(E6)","p.201,K>T","rs6427128",0.9,1,1,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM15",0.96,46,"错义",12220,"1.00=16/16",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"]
["12309A(99)v31478",15,15,1,{"$nulls":3},"A有","12309A","ADAM15","chr1:155033317","IVS19+9T>C","非编码区","rs11264304",0.7,0.94,0.94,0.94,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM15",0.96,46,"非编码区",16203,"1.00=21/21",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"]
["12309A(99)v24491",81,38,0.47,{"$nulls":3},"A有","12309A","ADAM19","chr5:156916167","c.2268G>A(E20)","p.756,S>S",{"$nulls":6},1E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ADAM19",0.99,110,"同义",13403,"0.48=61/127",null,8728,"5q33.3","NM_033274.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5936",35,35,1,{"$nulls":3},"A有","12309A","ADAM21","chr14:70924237","c.21C>A(E2)","p.7,L>L","rs3751520",0.37,0.35,0.36,0.34,0.28,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"同义",13203,"1.00=45/45",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5934",39,39,1,{"$nulls":3},"A有","12309A","ADAM21","chr14:70924249","c.33A>G(E2)","p.11,R>R","rs3751521",0.65,0.89,0.9,0.88,0.86,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"同义",13203,"1.00=50/50",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5935",80,34,0.42,{"$nulls":3},"A有","12309A","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",1,98,"同义",13303,"0.43=52/120",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"]
["12309A(99)v5937",74,74,1,{"$nulls":3},"A有","12309A","ADAM21","chr14:70924462","c.246A>G(E2)","p.82,L>L","rs3751523",{"$nulls":4},0.51,0.54,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,98,"同义",13303,"1.00=108/108",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5939",59,59,1,{"$nulls":3},"A有","12309A","ADAM21","chr14:70924501","c.285C>G(E2)","p.95,D>E","rs8010994",{"$nulls":4},0.8,0.61,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,9,0,"ADAM21",1,98,"错义",12320,"1.00=82/82",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"]
["12309A(99)v5933",60,59,0.98,{"$nulls":3},"A有","12309A","ADAM21","chr14:70924852","c.636A>C(E2)","p.212,L>L","rs3829455",0.44,0.36,0.36,0.35,0.33,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"同义",13203,"0.98=79/81",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"]
["12309A(99)v5940",54,53,0.98,{"$nulls":3},"A有","12309A","ADAM21","chr14:70925257","c.1041A>G(E2)","p.347,L>L","rs12436346",{"$nulls":4},0.99,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,98,"同义",13303,"0.99=66/67",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5938",32,31,0.97,{"$nulls":3},"A有","12309A","ADAM21","chr14:70925818","c.1602T>C(E2)","p.534,N>N","rs2022624",0.74,0.9,0.9,0.89,0.8,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"同义",13203,"0.92=34/37",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5932",2,2,1,{"$nulls":3},"A有","12309A","ADAM21","chr14:70926524","m.2566C>T(E2)","非编码区","rs59261726",0.41,0.35,0.36,0.35,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAM21",1,98,"非编码区",14200,"1.00=2/2",null,8747,"14q24.1","NM_003813.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23531",8,3,0.38,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADAM22",1,270,"错义",12220,"0.33=3/9",null,53616,"7q21","NM_004194.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23530",122,61,0.5,{"$nulls":3},"A有","12309A","ADAM22","chr7:87774727","IVS16-3T>C","剪切位点","rs3761806",0.12,0.23,0.24,0.23,0.24,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAM22",1,270,"剪切位点",16202,"0.48=104/218",null,53616,"7q21","NM_004194.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v668",93,54,0.58,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ADAM23",0.91,240,"同义",13203,"0.53=76/143",null,8745,"2q33","NM_003812.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26277",41,41,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,5,0,"ADAM28",1,270,"非编码区",14200,"1.00=54/54",null,10863,"8p21.2","NM_021777.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26280",122,63,0.52,{"$nulls":3},"A有","12309A","ADAM28","chr8:24201069","c.1962C>T(E18)","p.654,P>P",{"$nulls":6},1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ADAM28",1,270,"同义",13403,"0.47=90/191",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"]
["12309A(99)v26279",198,198,1,{"$nulls":3},"A有","12309A","ADAM28","chr8:24211278","IVS21-5C>T","剪切位点","rs7815643",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM28",1,270,"剪切位点",16202,"1.00=352/353",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"]
["12309A(99)v26278",189,189,1,{"$nulls":3},"A有","12309A","ADAM28","chr8:24211331","c.2293G>A(E22)","p.765,V>M","rs7814768",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAM28",1,270,"错义",12220,"1.00=333/334",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"]
["12309A(99)v26281",89,63,0.71,{"$nulls":3},"A有","12309A","ADAM28","chr8:24211994-24211997","m.2488(E23)至m.2491(E23):缺失CTAT","非编码区","rs10610134",0.97,1,1,1,0.14,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,5,0,"ADAM28",1,270,"非编码区",2420,"0.66=73/111",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"]
["12309A(99)v2184",78,43,0.55,{"$nulls":3},"A有","12309A","ADAM29","chr4:175898555","c.1879C>T(E4)","p.627,P>S","rs78280171",0.049,0.23,0.25,0.22,0.23,0.24,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"ADAM29",1,150,"错义",12110,"0.49=56/115",null,11086,"4q34","NM_001130703.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16643",153,153,1,{"$nulls":3},"A有","12309A","ADAM32","chr8:39080632","c.1400C>G(E14)","p.467,T>S","rs7845771",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAM32",1,300,"错义",12230,"1.00=278/279",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"]
["12309A(99)v6393",8,7,0.88,{"$nulls":3},"A有","12309A","ADAM33","chr20:3651742","c.2151C>G(E19)","p.717,G>G","rs528557",0.39,0.23,0.25,0.2,0.17,0.33,"杂合","无关","有rs号，MAF>=5%","16784537;19146844;19236319;19284602;19317339;21179102;22269827;22583515;23380143;24141861;24562625;24751681;24944803;25068505",{"$nulls":3},5,null,2,0,"ADAM33",0.87,17,"同义",13203,"0.80=8/10",null,80332,"20p13","NM_025220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6392",9,8,0.89,{"$nulls":3},"A有","12309A","ADAM33","chr20:3651765","c.2128C>T(E19)","p.710,V>I","rs3918396",0.048,0.019,0.019,0.019,0.012,0.025,"纯合","未知","蛋白结构预测结果为容忍或无害","12695330;16784537;17878941;18778489;19236319;19284602;22871616;23380143;25068505",{"$nulls":3},3,null,2,0,"ADAM33",0.87,17,"错义",12120,"0.91=10/11",null,80332,"20p13","NM_025220.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3139",17,16,0.94,{"$nulls":3},"A有","12309A","ADAM8","chr10:135076523","m.2698C>A(E23)","非编码区","rs2995300",0.83,0.94,0.93,0.94,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"非编码区",14200,"0.95=18/19",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"]
["12309A(99)v3144",26,26,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135076596","m.2625T>C(E23)","非编码区","rs2230576",0.74,0.93,0.91,0.94,0.9,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"非编码区",14200,"1.00=41/41",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"]
["12309A(99)v3142",10,10,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135082346","c.1969A>G(E19)","p.657,F>L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,10,0,"ADAM8",0.93,13,"错义",12220,"1.00=19/19",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"]
["12309A(99)v3147",3,3,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135084232-135084233","IVS15+8至IVS15+7:插入AGA","非编码区","rs5789159",null,0.95,0.95,0.95,0.05,0.95,"纯合","无关","内含子突变",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"非编码区",2500,"1.00=4/4",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3138",5,5,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135085321","c.1095C>T(E11)","p.365,A>A","rs1131720",0.85,0.94,0.93,0.94,0.73,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"同义",13203,"1.00=7/7",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"]
["12309A(99)v3145",3,3,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135085426","c.990A>G(E11)","p.330,C>C","rs1131719",0.92,0.95,0.96,0.95,0.81,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"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"]
["12309A(99)v3143",10,10,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135085754","c.900G>A(E10)","p.300,T>T","rs1131718",0.88,0.95,0.96,0.95,0.83,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"同义",13203,"1.00=14/14",null,101,"10q26.3","NM_001109.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3146",18,18,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135086380","IVS7-10C>T","剪切位点","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"剪切位点",16202,"1.00=27/27",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"]
["12309A(99)v3141",9,9,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135087521","c.136G>A(E3)","p.46,L>F","rs3008326",0.72,0.94,0.93,0.94,0.87,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"错义",12220,"0.93=13/14",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"]
["12309A(99)v3140",6,6,1,{"$nulls":3},"A有","12309A","ADAM8","chr10:135089035","c.103A>G(E2)","p.35,W>R","rs2275725",0.9,0.95,0.96,0.95,0.81,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ADAM8",0.93,13,"错义",12220,"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"]
["12309A(99)v21355",6,6,1,{"$nulls":3},"A有","12309A","ADAM9","chr8:38961550","m.2869G>T(E22)","非编码区","rs4733973",0.96,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良9型",null,612775,5,1,1,1,"ADAM9",1,270,"非编码区",14200,"1.00=6/6",null,8754,"8p11.22","NM_003816.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12589",44,21,0.48,{"$nulls":3},"A有","12309A","ADAMDEC1","chr8:24241904","m.107T>C(E1)","非编码区","rs12334642",0.05,0.048,0.062,0.034,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMDEC1",1,320,"非编码区",14200,"0.44=25/57",null,27299,"8p21.2","NM_001145271.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14360",61,40,0.66,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADAMTS1",0.88,140,"同义",13203,"0.62=57/92",null,9510,"21q21.2","NM_006988.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14361",2,2,1,{"$nulls":3},"A有","12309A","ADAMTS1","chr21:28216595","c.679C>G(E1)","p.227,A>P","rs428785",0.69,0.44,0.43,0.44,0.28,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS1",0.88,140,"错义",12220,"1.00=4/4",null,9510,"21q21.2","NM_006988.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15458",16,16,1,{"$nulls":3},"A有","12309A","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",277600,5,1,2,1,"ADAMTS10",0.82,33,"错义",12230,"1.00=24/24",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"]
["12309A(99)v15459",3,3,1,{"$nulls":3},"A有","12309A","ADAMTS10","chr19:8669931","c.401G>C(E4)","p.134,T>S","rs7255721",0.89,0.96,0.98,0.94,0.81,0.97,"纯合","无关","有rs号，MAF>=5%",19836009,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,2,1,"ADAMTS10",0.82,33,"错义",12220,"1.00=3/3",null,81794,"19p13.2","NM_030957.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18012",56,56,1,{"$nulls":3},"A有","12309A","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",{"$nulls":3},5,null,3,0,"ADAMTS12",1,140,"错义",12210,"1.00=101/101",null,81792,"5q35","NM_030955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18014",60,31,0.52,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"ADAMTS12",1,140,"同义",13203,"0.51=48/94",null,81792,"5q35","NM_030955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18013",50,50,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"ADAMTS12",1,140,"剪切位点",16202,"0.99=75/76",null,81792,"5q35","NM_030955.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7152",27,27,1,{"$nulls":3},"A有","12309A","ADAMTS13","chr9:136291063","c.420C>T(E5)","p.140,A>A","rs3118667",0.58,0.84,0.85,0.83,0.8,0.84,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,2,1,"ADAMTS13",0.97,24,"同义",13203,"1.00=46/46",null,11093,"9q34","NM_139025.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7150",101,101,1,{"$nulls":3},"A有","12309A","ADAMTS13","chr9:136304497","c.1716A>G(E15)","p.572,T>T","rs3124768",0.52,0.82,0.82,0.82,0.83,0.82,"纯合","无关","有rs号，MAF>=5%",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,2,1,"ADAMTS13",0.97,24,"同义",13203,"1.00=163/163",null,11093,"9q34","NM_139025.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21309",19,19,1,{"$nulls":3},"A有","12309A","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,{"$nulls":3},5,null,7,0,"ADAMTS14",1,37,"错义",12220,"1.00=24/24",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21314",14,14,1,{"$nulls":3},"A有","12309A","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,{"$nulls":3},5,null,7,0,"ADAMTS14",1,37,"同义",13203,"1.00=20/20",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21313",30,17,0.57,{"$nulls":3},"A有","12309A","ADAMTS14","chr10:72503344","c.1965G>A(E13)","p.655,T>T","rs10999502",0.31,0.49,0.48,0.5,0.46,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS14",1,37,"同义",13203,"0.56=24/43",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21312",33,20,0.61,{"$nulls":3},"A有","12309A","ADAMTS14","chr10:72517830","c.3050G>A(E20)","p.1017,S>N","rs10999516",0.21,0.35,0.35,0.34,0.31,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS14",1,37,"错义",12220,"0.69=29/42",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21308",93,48,0.52,{"$nulls":3},"A有","12309A","ADAMTS14","chr10:72518009","c.3146A>G(E21)","p.1049,E>G","rs4747096",0.22,0.35,0.35,0.34,0.34,0.35,"杂合","无关","有rs号，MAF>=5%","18790654;23491141",{"$nulls":3},5,null,7,0,"ADAMTS14",1,37,"错义",12220,"0.47=78/167",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21310",28,13,0.46,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,7,0,"ADAMTS14",1,37,"错义",12220,"0.44=21/48",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21311",8,4,0.5,{"$nulls":3},"A有","12309A","ADAMTS14","chr10:72520660","m.3723T>C(E22)","非编码区","rs10999519",0.22,0.35,0.35,0.34,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ADAMTS14",1,37,"非编码区",14200,"0.60=6/10",null,140766,"10q21","NM_080722.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10603",6,5,0.83,{"$nulls":3},"A有","12309A","ADAMTS15","chr11:130339312","c.1698T>C(E5)","p.566,N>N","rs731446",0.57,0.35,0.34,0.36,0.32,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADAMTS15",0.92,27,"同义",13203,"0.89=8/9",null,170689,"11q25","NM_139055.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10602",24,14,0.58,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"ADAMTS15",0.92,27,"错义",12210,"0.45=15/33",null,170689,"11q25","NM_139055.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10601",4,2,0.5,{"$nulls":3},"A有","12309A","ADAMTS15","chr11:130343368","c.2505G>A(E8)","p.835,P>P","rs61757474",0.013,0.041,0.043,0.039,0.016,0.038,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAMTS15",0.92,27,"同义",13103,"0.30=3/10",null,170689,"11q25","NM_139055.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24508",43,20,0.47,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ADAMTS16",0.93,110,"错义",12220,"0.51=39/76",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24507",47,27,0.57,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ADAMTS16",0.93,110,"错义",12220,"0.51=43/84",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24509",109,109,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ADAMTS16",0.93,110,"同义",13203,"0.99=175/176",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24510",150,81,0.54,{"$nulls":3},"A有","12309A","ADAMTS16","chr5:5239862","c.2347A>G(E16)","p.783,T>A","rs147650341",3.8E-3,0.014,0.014,0.015,0.011,0.013,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ADAMTS16",0.93,110,"错义",12120,"0.53=148/277",null,170690,"5p15","NM_139056.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17900",7,7,1,{"$nulls":3},"A有","12309A","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",613195,5,1,10,1,"ADAMTS17",0.88,76,"非编码区",14200,"1.00=9/9",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17901",12,12,1,{"$nulls":3},"A有","12309A","ADAMTS17","chr15:100514561","m.3413G>C(E22)","非编码区","rs2581340",{"$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",613195,3,1,10,1,"ADAMTS17",0.88,76,"非编码区",14300,"1.00=22/22",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17896",19,19,1,{"$nulls":3},"A有","12309A","ADAMTS17","chr15:100514614","c.3281T>C(E22)","p.1094,N>S","rs2573652",0.68,0.56,0.58,0.53,0.47,0.56,"纯合","无关","有rs号，MAF>=5%",19330903,"Weill-Marchesani样综合症","AR",613195,5,1,10,1,"ADAMTS17",0.88,76,"错义",12220,"1.00=26/26",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17892",34,34,1,{"$nulls":3},"A有","12309A","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",613195,5,1,10,1,"ADAMTS17",0.88,76,"同义",13203,"1.00=58/58",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17889",16,8,0.5,{"$nulls":3},"A有","12309A","ADAMTS17","chr15:100692845","c.1445A>G(E10)","p.482,M>T","rs28567966",0.15,0.065,0.062,0.068,0.052,0.053,"杂合","无关","有rs号，MAF>=5%",19330903,"Weill-Marchesani样综合症","AR",613195,5,3,10,1,"ADAMTS17",0.88,76,"错义",12220,"0.52=12/23",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17890",279,279,1,{"$nulls":3},"A有","12309A","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",613195,5,1,10,1,"ADAMTS17",0.88,76,"同义",13203,"1.00=587/587",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17895",90,36,0.4,{"$nulls":3},"A有","12309A","ADAMTS17","chr15:100801698","c.1017G>A(E6)","p.339,A>A","rs4965613",0.69,0.61,0.59,0.62,0.64,0.63,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,10,1,"ADAMTS17",0.88,76,"同义",13203,"0.42=63/150",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17891",11,8,0.73,{"$nulls":3},"A有","12309A","ADAMTS17","chr15:100821426","IVS4+8G>A","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.28,0.3,"杂合","无关","有rs号，MAF>=5%",null,"Weill-Marchesani样综合症","AR",613195,5,3,10,1,"ADAMTS17",0.88,76,"非编码区",16203,"0.69=11/16",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17893",8,6,0.75,{"$nulls":3},"A有","12309A","ADAMTS17","chr15:100821467","c.756G>A(E4)","p.252,A>A","rs7496640",null,0.49,0.5,0.49,0.46,0.54,"杂合","未知","预测范围之外的同义突变",null,"Weill-Marchesani样综合症","AR",613195,4,3,10,1,"ADAMTS17",0.88,76,"同义",13303,"0.77=10/13",null,170691,"15q24","NM_139057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17899",3,3,1,{"$nulls":3},"A有","12309A","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",613195,5,1,10,1,"ADAMTS17",0.88,76,"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"]
["12309A(99)v27749",32,20,0.62,{"$nulls":3},"A有","12309A","ADAMTS18","chr16:77317756","m.4182G>A(E23)","非编码区","rs889707",0.17,0.18,0.22,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,7,1,"ADAMTS18",1,170,"非编码区",14200,"0.65=24/37",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27751",73,34,0.47,{"$nulls":3},"A有","12309A","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",615458,5,3,7,1,"ADAMTS18",1,170,"错义",12220,"0.44=51/117",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27750",55,54,0.98,{"$nulls":3},"A有","12309A","ADAMTS18","chr16:77353973","c.2305G>T(E16)","p.769,L>I","rs9930984",0.63,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,170,"错义",12220,"0.98=89/91",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27748",157,68,0.43,{"$nulls":3},"A有","12309A","ADAMTS18","chr16:77359768","c.2027A>G(E13)","p.676,V>A","rs201322928",0.0002,0.0024,0,0.0049,null,3.5E-4,"杂合","可能相关","蛋白结构预测结果为有害",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,2,3,7,1,"ADAMTS18",1,170,"错义",12110,"0.44=109/246",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27747",176,176,1,{"$nulls":3},"A有","12309A","ADAMTS18","chr16:77359919","c.1876A>T(E13)","p.626,L>I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,170,"错义",12220,"1.00=296/296",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27752",137,137,1,{"$nulls":3},"A有","12309A","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",615458,5,1,7,1,"ADAMTS18",1,170,"同义",13203,"1.00=236/236",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27746",78,78,1,{"$nulls":3},"A有","12309A","ADAMTS18","chr16:77401545","c.571A>G(E4)","p.191,Y>H","rs11643211",0.37,0.56,0.57,0.55,0.58,0.57,"纯合","无关","有rs号，MAF>=5%",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,7,1,"ADAMTS18",1,170,"错义",12220,"1.00=121/121",null,170692,"16q23","NM_199355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21105",235,230,0.98,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADAMTS19",0.92,210,"错义",12220,"0.99=463/469",null,171019,"5q23.3","NM_133638.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21104",43,43,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADAMTS19",0.92,210,"非编码区",14200,"0.99=74/75",null,171019,"5q23.3","NM_133638.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24722",76,76,1,{"$nulls":3},"A有","12309A","ADAMTS2","chr5:178540975","c.3529G>A(E22)","p.1177,P>S","rs1054480",0.26,0.27,0.26,0.28,0.27,0.32,"纯合","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",225410,5,1,5,1,"ADAMTS2",0.86,34,"错义",12220,"1.00=133/133",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24720",8,8,1,{"$nulls":3},"A有","12309A","ADAMTS2","chr5:178581859","c.1194G>A(E7)","p.398,D>D","rs2278221",0.23,0.28,0.29,0.27,0.25,0.34,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,5,1,"ADAMTS2",0.86,34,"同义",13203,"1.00=12/12",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24719",10,10,1,{"$nulls":3},"A有","12309A","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",225410,5,1,5,1,"ADAMTS2",0.86,34,"同义",13203,"1.00=19/19",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24721",10,7,0.7,{"$nulls":3},"A有","12309A","ADAMTS2","chr5:178634672","c.733C>T(E4)","p.245,V>I","rs398829",0.43,0.63,0.68,0.59,0.53,0.66,"杂合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,5,1,"ADAMTS2",0.86,34,"错义",12220,"0.60=12/20",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24723",10,7,0.7,{"$nulls":3},"A有","12309A","ADAMTS2","chr5:178634683","c.722C>T(E4)","p.241,R>H","rs11750821",0.072,0.082,0.086,0.078,0.09,0.13,"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",225410,5,3,5,1,"ADAMTS2",0.86,34,"错义",12220,"0.58=11/19",null,9509,"5qter","NM_014244.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5512",278,132,0.47,{"$nulls":3},"A有","12309A","ADAMTS20","chr12:43860526","c.1296A>G(E9)","p.432,P>P","rs11182088",0.43,0.79,0.82,0.77,0.74,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS20",1,260,"同义",13203,"0.48=261/539",null,80070,"12q12","NM_025003.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11296",125,66,0.53,{"$nulls":3},"A有","12309A","ADAMTS3","chr4:73414286","c.413C>T(E3)","p.138,R>K","rs788908",0.64,0.66,0.65,0.68,0.67,0.68,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS3",1,230,"错义",12220,"0.49=101/206",null,9508,"4q13.3","NM_014243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11297",209,88,0.42,{"$nulls":3},"A有","12309A","ADAMTS3","chr4:73433123-73433123","IVS1-5:缺失A","非编码区","rs33925079",0.42,0.45,0.4,0.51,0.075,0.45,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"ADAMTS3",1,230,"非编码区",2500,"0.42=101/239",null,9508,"4q13.3","NM_014243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21272",13,13,1,{"$nulls":3},"A有","12309A","ADAMTS4","chr1:161163037","c.1877T>C(E7)","p.626,Q>R","rs4233367",0.71,0.88,0.89,0.88,0.83,0.9,"纯合","无关","有rs号，MAF>=5%",19064571,{"$nulls":3},5,null,2,0,"ADAMTS4",0.93,35,"错义",12220,"1.00=17/17",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"]
["12309A(99)v21273",14,14,1,{"$nulls":3},"A有","12309A","ADAMTS4","chr1:161168004","c.414C>T(E1)","p.138,S>S","rs33941127",0.37,0.47,0.46,0.47,0.49,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS4",0.93,35,"同义",13203,"1.00=22/22",null,9507,"1q21-q23","NM_005099.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7845",34,19,0.56,{"$nulls":3},"A有","12309A","ADAMTS5","chr21:28296324","m.3570A>G(E8)","非编码区","rs151065",0.78,0.48,0.49,0.47,null,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS5",0.94,110,"非编码区",14200,"0.56=29/52",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"]
["12309A(99)v7846",100,46,0.46,{"$nulls":3},"A有","12309A","ADAMTS5","chr21:28302355","c.2075A>G(E7)","p.692,L>P","rs226794",0.81,0.48,0.49,0.47,0.42,0.47,"杂合","无关","有rs号，MAF>=5%","18240210;23491141",{"$nulls":3},5,null,2,0,"ADAMTS5",0.94,110,"错义",12220,"0.48=75/156",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"]
["12309A(99)v17965",118,54,0.46,{"$nulls":3},"A有","12309A","ADAMTS6","chr5:64447777","IVS24-5C>T","剪切位点","rs17206779",0.38,0.4,0.4,0.39,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAMTS6",1,260,"剪切位点",16202,"0.48=100/209",null,11174,"5q12","NM_197941.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17964",157,70,0.45,{"$nulls":3},"A有","12309A","ADAMTS6","chr5:64466460","c.3228G>T(E24)","p.1076,P>P",{"$nulls":5},2.3E-3,5.8E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ADAMTS6",1,260,"同义",13403,"0.46=130/282",null,11174,"5q12","NM_197941.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3924",4,4,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,9,0,"ADAMTS7",0.94,18,"错义",12220,"1.00=5/5",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3925",4,3,0.75,{"$nulls":3},"A有","12309A","ADAMTS7","chr15:79058445","c.3808G>A(E19)","p.1270,P>S","rs76784555",{"$nulls":4},0.2,0.26,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,9,0,"ADAMTS7",0.94,18,"错义",12310,"0.75=3/4",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"]
["12309A(99)v3927",8,8,1,{"$nulls":3},"A有","12309A","ADAMTS7","chr15:79058572","c.3681T>G(E19)","p.1227,R>R","rs1809421",null,0.98,0.99,0.98,0.88,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAMTS7",0.94,18,"同义",13303,"1.00=8/8",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3922",4,4,1,{"$nulls":3},"A有","12309A","ADAMTS7","chr15:79058923","c.3330G>A(E19)","p.1110,P>P","rs1809422",0.95,0.92,0.91,0.93,0.77,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTS7",0.94,18,"同义",13203,"1.00=5/5",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"]
["12309A(99)v3918",12,11,0.92,{"$nulls":3},"A有","12309A","ADAMTS7","chr15:79066581","c.1938G>A(E13)","p.646,D>D","rs74405922",0.1,0.36,0.36,0.37,0.35,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTS7",0.94,18,"同义",13203,"0.95=19/20",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"]
["12309A(99)v3920",22,6,0.27,{"$nulls":3},"A有","12309A","ADAMTS7","chr15:79067055","c.1787C>T(E12)","p.596,R>H","rs2277549",0.25,0.18,0.18,0.17,0.15,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTS7",0.94,18,"错义",12220,"0.34=15/44",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"]
["12309A(99)v3919",27,6,0.22,{"$nulls":3},"A有","12309A","ADAMTS7","chr15:79067099","c.1743G>C(E12)","p.581,R>R","rs142017909",{"$nulls":4},0.046,0.0071,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAMTS7",0.94,18,"同义",13303,"0.23=14/60",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3926",5,5,1,{"$nulls":3},"A有","12309A","ADAMTS7","chr15:79082108","c.1101C>T(E7)","p.367,Q>Q","rs2277548",0.1,0.36,0.36,0.35,0.34,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ADAMTS7",0.94,18,"同义",13203,"1.00=5/5",null,11173,"15q24.2","NM_014272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3923",16,16,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,9,0,"ADAMTS7",0.94,18,"同义",13203,"1.00=34/34",null,11173,"15q24.2","NM_014272.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18568",45,45,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ADAMTS8",0.86,31,"错义",12220,"1.00=65/65",null,11095,"11q25","NM_007037.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28345",81,41,0.51,{"$nulls":3},"A有","12309A","ADAMTS9","chr3:64532476","c.5022G>C(E32)","p.1674,D>E","rs6787633",0.13,0.23,0.23,0.22,0.22,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADAMTS9",1,190,"错义",12220,"0.50=67/134",null,56999,"3p14.1","NM_182920.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19742",20,6,0.3,{"$nulls":3},"A有","12309A","ADAMTSL1","chr9:18504916","c.153T>A(E2)","p.51,G>G","rs2277160",0.57,0.44,0.4,0.48,0.41,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTSL1",1,100,"同义",13203,"0.32=11/34",null,92949,"9p21.3","NM_001040272.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19743",95,84,0.88,{"$nulls":3},"A有","12309A","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,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,5,0,"ADAMTSL1",1,100,"非编码区",2420,"0.88=106/120",null,92949,"9p21.3","NM_052866.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19741",5,5,1,{"$nulls":3},"A有","12309A","ADAMTSL1","chr9:18776840","c.2613A>C(E19)","p.871,I>I","rs1549986",0.97,1,1,1,0.8,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADAMTSL1",1,100,"同义",13203,"1.00=7/7",null,92949,"9p21.3","NM_001040272.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19740",7,4,0.57,{"$nulls":3},"A有","12309A","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,5,0,"ADAMTSL1",1,100,"同义",13403,"0.62=5/8",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"]
["12309A(99)v19739",87,43,0.49,{"$nulls":3},"A有","12309A","ADAMTSL1","chr9:18887908","c.4329G>C(E24)","p.1443,L>L","rs75551645",0.049,0.14,0.16,0.12,0.12,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ADAMTSL1",1,100,"同义",13103,"0.46=69/150",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"]
["12309A(99)v5557",72,36,0.5,{"$nulls":3},"A有","12309A","ADAMTSL2","chr9:136412170","c.774C>T(E9)","p.258,D>D","rs2073874",0.72,0.53,0.57,0.5,0.42,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,35,"同义",13203,"0.48=66/138",null,9719,"9q34.2","NM_001145320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5555",68,33,0.49,{"$nulls":3},"A有","12309A","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",0.98,35,"同义",13203,"0.50=56/111",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"]
["12309A(99)v5556",59,29,0.49,{"$nulls":3},"A有","12309A","ADAMTSL2","chr9:136412255","c.859A>C(E9)","p.287,R>R","rs2073876",0.72,0.53,0.57,0.5,0.45,0.52,"杂合","无关","有rs号，MAF>=5%",null,"Geleophysic发育不良1型","AR",231050,5,3,5,1,"ADAMTSL2",0.98,35,"同义",13203,"0.53=49/93",null,9719,"9q34.2","NM_001145320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5558",35,18,0.51,{"$nulls":3},"A有","12309A","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",0.98,35,"同义",13203,"0.53=26/49",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"]
["12309A(99)v5559",4,4,1,{"$nulls":3},"A有","12309A","ADAMTSL2","chr9:136419629","c.1090G>A(E10)","p.364,V>I","rs35767802",{"$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",0.98,35,"错义",12320,"0.88=7/8",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"]
["12309A(99)v23701",68,68,1,{"$nulls":3},"A有","12309A","ADAMTSL3","chr15:84488636","c.437A>G(E6)","p.146,H>R","rs4483821",0.68,0.8,0.79,0.81,0.8,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"错义",12220,"1.00=110/110",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"]
["12309A(99)v23697",306,303,0.99,{"$nulls":3},"A有","12309A","ADAMTSL3","chr15:84539619","c.868C>G(E9)","p.290,L>V","rs4144691",0.81,0.72,0.7,0.75,0.76,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"错义",12220,"0.99=605/610",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"]
["12309A(99)v23704",29,15,0.52,{"$nulls":3},"A有","12309A","ADAMTSL3","chr15:84581889","c.1746G>A(E16)","p.582,P>P","rs12439867",0.39,0.34,0.31,0.37,0.34,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"同义",13203,"0.61=25/41",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"]
["12309A(99)v23699",34,33,0.97,{"$nulls":3},"A有","12309A","ADAMTSL3","chr15:84581904","c.1761T>C(E16)","p.587,R>R","rs4842923",0.69,0.72,0.69,0.74,0.72,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"同义",13203,"0.96=45/47",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"]
["12309A(99)v23700",38,38,1,{"$nulls":3},"A有","12309A","ADAMTSL3","chr15:84582124","c.1981G>T(E16)","p.661,V>L","rs4842838",0.69,0.72,0.69,0.74,0.73,0.74,"纯合","无关","有rs号，MAF>=5%","19343178;20189936",{"$nulls":3},5,null,8,0,"ADAMTSL3",1,180,"错义",12220,"1.00=72/72",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"]
["12309A(99)v23698",55,24,0.44,{"$nulls":3},"A有","12309A","ADAMTSL3","chr15:84639350","c.2605C>T(E20)","p.869,L>F","rs2277849",0.26,0.33,0.35,0.31,0.33,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"错义",12220,"0.42=38/90",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"]
["12309A(99)v23703",78,43,0.55,{"$nulls":3},"A有","12309A","ADAMTSL3","chr15:84651185","c.2805C>A(E21)","p.935,P>P","rs8031704",0.38,0.38,0.4,0.36,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"同义",13203,"0.48=66/138",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"]
["12309A(99)v23702",72,72,1,{"$nulls":3},"A有","12309A","ADAMTSL3","chr15:84651290","c.2910T>C(E21)","p.970,H>H","rs7176737",0.87,0.95,0.93,0.98,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,180,"同义",13203,"1.00=101/101",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"]
["12309A(99)v9546",40,19,0.47,{"$nulls":3},"A有","12309A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",0.99,38,"错义",12220,"0.48=31/64",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9546",40,19,0.47,{"$nulls":3},"A有","12309A","ADAMTSL4","chr1:150526044","c.577G>C(E6)","p.193,A>P","rs41317515",0.53,0.54,0.61,0.46,0.47,0.55,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",0.99,38,"错义",12220,"0.48=31/64",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"]
["12309A(99)v9545",5,4,0.8,{"$nulls":3},"A有","12309A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",0.99,38,"同义",13203,"0.83=5/6",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9545",5,4,0.8,{"$nulls":3},"A有","12309A","ADAMTSL4","chr1:150526406","c.939C>T(E6)","p.313,G>G","rs6681639",0.35,0.3,0.34,0.25,0.23,0.31,"杂合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",0.99,38,"同义",13203,"0.83=5/6",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"]
["12309A(99)v9543",7,7,1,{"$nulls":3},"A有","12309A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",0.99,38,"同义",13203,"1.00=8/8",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9543",7,7,1,{"$nulls":3},"A有","12309A","ADAMTSL4","chr1:150531008","c.2442T>C(E15)","p.814,N>N","rs10888382",0.81,0.86,0.84,0.87,0.81,0.84,"纯合","无关","有rs号，MAF>=5%",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",0.99,38,"同义",13203,"1.00=8/8",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9547",17,17,1,{"$nulls":3},"A有","12309A","ADAMTSL4","chr1:150531050","c.2484G>A(E15)","p.828,P>P","rs10749657",0.88,0.98,0.99,0.98,0.93,0.97,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",0.99,38,"同义",13203,"0.93=28/30",null,54507,"1q21.3","NM_019032.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9547",17,17,1,{"$nulls":3},"A有","12309A","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",0.99,38,"同义",13203,"0.93=28/30",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"]
["12309A(99)v9544",24,24,1,{"$nulls":3},"A有","12309A","ADAMTSL4","chr1:150531170","c.2604C>T(E15)","p.868,H>H","rs10749658",0.92,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",0.99,38,"同义",13203,"1.00=32/32",null,54507,"1q21.3","NM_025008.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9544",24,24,1,{"$nulls":3},"A有","12309A","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",0.99,38,"同义",13203,"1.00=32/32",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"]
["12309A(99)v30569",11,6,0.55,{"$nulls":3},"A有","12309A","ADAP1","chr7:940181","c.721C>T(E7)","p.241,G>S","rs10256887",0.87,0.88,0.89,0.88,0.79,0.87,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAP1",0.93,31,"错义",12230,"0.50=8/16",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"]
["12309A(99)v30568",8,8,1,{"$nulls":3},"A有","12309A","ADAP1","chr7:959692","IVS3-5G>A","剪切位点","rs6962883",0.12,0.25,0.25,0.26,0.22,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAP1",0.93,31,"剪切位点",16202,"1.00=16/16",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"]
["12309A(99)v2914",51,26,0.51,{"$nulls":3},"A有","12309A","ADAR","chr1:154561925","c.1797C>T(E9)","p.599,V>V","rs1127309",0.28,0.32,0.3,0.35,0.26,0.28,"杂合","无关","有rs号，MAF>=5%","18043764;19434718","遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,110,"同义",13203,"0.57=42/74",null,103,"1q21.3","NM_001025107.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2914",51,26,0.51,{"$nulls":3},"A有","12309A","ADAR","chr1:154561925","c.1797C>T(E9)","p.599,V>V","rs1127309",0.28,0.32,0.3,0.35,0.26,0.28,"杂合","无关","有rs号，MAF>=5%","18043764;19434718","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,4,2,"ADAR",1,110,"同义",13203,"0.57=42/74",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"]
["12309A(99)v2917",40,21,0.53,{"$nulls":3},"A有","12309A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"杂合","无关","有rs号，MAF>=5%","19434718;21939710","遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,110,"错义",12220,"0.50=24/48",null,103,"1q21.3","NM_001025107.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2917",40,21,0.53,{"$nulls":3},"A有","12309A","ADAR","chr1:154573967","c.266T>C(E2)","p.89,K>R","rs2229857",0.62,0.67,0.69,0.65,0.71,0.72,"杂合","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",615010,5,3,4,2,"ADAR",1,110,"错义",12220,"0.50=24/48",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"]
["12309A(99)v2915",51,51,1,{"$nulls":3},"A有","12309A","ADAR","chr1:154574820","c.298T>C(E2)","p.100,R>G","rs1466731",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,110,"错义",12230,"1.00=88/88",null,103,"1q21.3","NM_001111.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2915",51,51,1,{"$nulls":3},"A有","12309A","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=88/88",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"]
["12309A(99)v2916",12,12,1,{"$nulls":3},"A有","12309A","ADAR","chr1:154575040","c.78C>T(E2)","p.26,R>R","rs1802645",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性对称性色素异常症","AD",127400,5,1,4,2,"ADAR",1,110,"同义",13203,"1.00=16/16",null,103,"1q21.3","NM_001111.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2916",12,12,1,{"$nulls":3},"A有","12309A","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=16/16",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"]
["12309A(99)v27563",5,5,1,{"$nulls":3},"A有","12309A","ADARB2","chr10:1228910","m.2769A>G(E10)","非编码区","rs904959",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADARB2",0.84,40,"非编码区",14200,"1.00=6/6",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"]
["12309A(99)v27561",9,5,0.56,{"$nulls":3},"A有","12309A","ADARB2","chr10:1229009","m.2670G>A(E10)","非编码区","rs904960",0.65,0.7,0.72,0.69,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADARB2",0.84,40,"非编码区",14200,"0.56=5/9",null,105,"10p15.3","NM_018702.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19373",72,71,0.99,{"$nulls":3},"A有","12309A","ADAT1","chr16:75646576","c.608G>T(E7)","p.203,T>N","rs3743599",0.27,0.74,0.73,0.75,0.72,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADAT1",1,140,"错义",12220,"0.99=100/101",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"]
["12309A(99)v19372",48,48,1,{"$nulls":3},"A有","12309A","ADAT1","chr16:75646685","c.499G>T(E7)","p.167,H>N","rs3743598",0.57,0.81,0.82,0.81,0.78,0.83,"纯合","无关","有rs号，MAF>=5%",16251468,{"$nulls":3},5,null,2,0,"ADAT1",1,140,"错义",12220,"1.00=62/62",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"]
["12309A(99)v24990",58,20,0.34,{"$nulls":3},"A有","12309A","ADC","chr1:33562416","c.862G>T(E9)","p.288,A>S","rs16835244",0.039,0.12,0.13,0.12,0.097,0.095,"杂合","可能相关","蛋白结构预测结果为有害",20147969,{"$nulls":3},2,null,1,0,"ADC",1,81,"错义",12110,"0.34=30/87",null,113451,"1p35.1","NM_052998.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8306",53,23,0.43,{"$nulls":3},"A有","12309A","ADCK1","chr14:78390880","c.735T>C(E7)","p.245,N>N","rs2302944",0.23,0.29,0.29,0.29,0.32,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCK1",1,75,"同义",13203,"0.53=49/92",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"]
["12309A(99)v31135",40,19,0.47,{"$nulls":3},"A有","12309A","ADCK3","chr1:227172290","c.1440C>T(E12)","p.480,F>F","rs12593",0.24,0.2,0.23,0.17,0.17,0.18,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,3,1,"ADCK3",1,46,"同义",13203,"0.43=26/60",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31134",61,33,0.54,{"$nulls":3},"A有","12309A","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",1,46,"剪切位点",16202,"0.48=45/94",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"]
["12309A(99)v31132",84,40,0.48,{"$nulls":3},"A有","12309A","ADCK3","chr1:227174210","c.1716T>C(E15)","p.572,S>S","rs3738725",0.31,0.24,0.25,0.24,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,3,1,"ADCK3",1,46,"同义",13203,"0.42=50/118",null,56997,"1q42.13","NM_020247.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8779",14,7,0.5,{"$nulls":3},"A有","12309A","ADCK4","chr19:41206208","IVS10+7A>G","非编码区","rs2246095",0.54,0.55,0.58,0.51,0.52,0.52,"杂合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,3,3,1,"ADCK4",1,52,"非编码区",16203,"0.47=7/15",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"]
["12309A(99)v8780",20,14,0.7,{"$nulls":3},"A有","12309A","ADCK4","chr19:41209477","c.645C>T(E8)","p.215,A>A","rs11538385",0.23,0.24,0.26,0.21,0.21,0.24,"杂合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,3,3,1,"ADCK4",1,52,"同义",13203,"0.68=19/28",null,79934,"19q13.2","NM_001142555.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8778",10,6,0.6,{"$nulls":3},"A有","12309A","ADCK4","chr19:41211056","c.398T>C(E6)","p.133,H>R","rs3865452",0.48,0.45,0.41,0.49,0.36,0.47,"杂合","无关","有rs号，MAF>=5%",null,"肾病综合征（NS）9型","AR",615573,5,3,3,1,"ADCK4",1,52,"错义",12220,"0.56=9/16",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"]
["12309A(99)v21857",34,17,0.5,{"$nulls":3},"A有","12309A","ADCY10","chr1:167778843","m.4748G>A(E30)","非编码区","rs3213588",0.47,0.16,0.15,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,7,1,"ADCY10",1,200,"非编码区",14200,"0.49=18/37",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21855",83,39,0.47,{"$nulls":3},"A有","12309A","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",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"0.44=51/117",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21859",128,128,1,{"$nulls":3},"A有","12309A","ADCY10","chr1:167817639","c.1938A>G(E16)","p.646,G>G","rs203795",0.82,0.85,0.82,0.87,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",null,"吸收性高钙尿症2型","AD",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"1.00=296/296",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21854",116,115,0.99,{"$nulls":3},"A有","12309A","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",143870,5,1,7,1,"ADCY10",1,200,"错义",12220,"1.00=218/219",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21856",91,40,0.44,{"$nulls":3},"A有","12309A","ADCY10","chr1:167825606","c.1509A>G(E14)","p.503,F>F","rs2071922",0.21,0.46,0.43,0.5,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",19093065,"吸收性高钙尿症2型","AD",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"0.39=56/142",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21853",148,80,0.54,{"$nulls":3},"A有","12309A","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",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"0.52=140/270",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21858",82,37,0.45,{"$nulls":3},"A有","12309A","ADCY10","chr1:167849414","c.696A>G(E8)","p.232,G>G","rs203849",0.49,0.31,0.3,0.33,0.29,0.33,"杂合","无关","有rs号，MAF>=5%","16038259;19093065","吸收性高钙尿症2型","AD",143870,5,1,7,1,"ADCY10",1,200,"同义",13203,"0.45=55/123",null,55811,"1q24","NM_001167749.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3326",22,9,0.41,{"$nulls":3},"A有","12309A","ADCY2","chr5:7757705","IVS16+6T>C","剪切位点","rs4072341",0.49,0.33,0.35,0.3,null,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY2",0.94,160,"剪切位点",16201,"0.49=17/35",null,108,"5p15.3","NM_020546.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3324",118,52,0.44,{"$nulls":3},"A有","12309A","ADCY2","chr5:7826853","c.3145G>A(E25)","p.1049,V>I","rs79684971",0.023,0.06,0.048,0.073,0.058,0.054,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"ADCY2",0.94,160,"错义",12120,"0.41=90/221",null,108,"5p15.3","NM_020546.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17131",3,3,1,{"$nulls":3},"A有","12309A","ADCY3","chr2:25042622","m.3813A>G(E21)","非编码区","rs7945",0.12,0.15,0.16,0.13,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADCY3",1,64,"非编码区",14200,"1.00=4/4",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17132",3,3,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"ADCY3",1,64,"非编码区",14200,"1.00=4/4",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17130",66,66,1,{"$nulls":3},"A有","12309A","ADCY3","chr2:25141538","c.319A>G(E1)","p.107,S>P","rs11676272",0.57,0.42,0.42,0.42,0.39,0.43,"纯合","无关","有rs号，MAF>=5%",25044758,{"$nulls":3},5,null,3,0,"ADCY3",1,64,"错义",12220,"1.00=122/122",null,109,"2p23.3","NM_004036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3302",79,79,1,{"$nulls":3},"A有","12309A","ADCY4","chr14:24793600","IVS14-3G>A","剪切位点","rs1884366",0.93,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY4",0.98,59,"剪切位点",16202,"1.00=146/146",null,196883,"14q12","NM_001198568.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3303",41,40,0.98,{"$nulls":3},"A有","12309A","ADCY4","chr14:24795495","IVS11+10G>A","非编码区","rs17256902",0.3,0.55,0.54,0.55,0.48,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADCY4",0.98,59,"非编码区",16203,"0.95=63/66",null,196883,"14q12","NM_001198568.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28372",10,10,1,{"$nulls":3},"A有","12309A","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",0.82,40,"剪切位点",16202,"1.00=17/17",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"]
["12309A(99)v14841",31,11,0.35,{"$nulls":3},"A有","12309A","ADCY6","chr12:49177113","c.105T>G(E1)","p.35,A>A","rs2453486",0.29,0.37,0.34,0.39,0.32,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY6",1,51,"同义",13203,"0.36=17/47",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"]
["12309A(99)v24019",26,26,1,{"$nulls":3},"A有","12309A","ADCY7","chr16:50326661","c.612A>G(E4)","p.204,A>A","rs8051594",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY7",1,44,"同义",13203,"1.00=44/44",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"]
["12309A(99)v21663",94,94,1,{"$nulls":3},"A有","12309A","ADCY8","chr8:131921956","c.1638A>G(E6)","p.546,P>P","rs12547243",0.54,0.65,0.7,0.59,0.64,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCY8",0.91,120,"剪切位点",13202,"0.99=150/151",null,114,"8q24","NM_001115.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7963",36,36,1,{"$nulls":3},"A有","12309A","ADCY9","chr16:4016676","c.3162A>G(E11)","p.1054,H>H","rs2230742",0.73,0.85,0.85,0.85,0.83,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"1.00=49/49",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"]
["12309A(99)v7966",10,5,0.5,{"$nulls":3},"A有","12309A","ADCY9","chr16:4016943","c.2895A>G(E11)","p.965,S>S","rs2230741",0.17,0.23,0.22,0.24,0.17,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"0.43=6/14",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"]
["12309A(99)v7965",10,6,0.6,{"$nulls":3},"A有","12309A","ADCY9","chr16:4027605","c.2706C>T(E9)","p.902,A>A","rs2240735",0.47,0.54,0.54,0.53,0.47,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"0.71=15/21",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"]
["12309A(99)v7961",48,24,0.5,{"$nulls":3},"A有","12309A","ADCY9","chr16:4033436","c.2316T>C(E7)","p.772,I>M","rs2230739",0.26,0.4,0.4,0.39,0.41,0.49,"杂合","无关","有rs号，MAF>=5%","20386734;20459687;24934404",{"$nulls":3},5,null,6,0,"ADCY9",1,82,"错义",12220,"0.47=42/89",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"]
["12309A(99)v7962",82,36,0.44,{"$nulls":3},"A有","12309A","ADCY9","chr16:4164364","c.1080C>T(E2)","p.360,R>R","rs2230738",0.32,0.62,0.59,0.66,0.63,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"同义",13203,"0.46=54/117",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"]
["12309A(99)v7964",2,2,1,{"$nulls":3},"A有","12309A","ADCY9","chr16:4165432","c.12T>C(E2)","p.4,P>P","rs2530898",1,1,1,1,0.83,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADCY9",1,82,"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"]
["12309A(99)v18314",2,2,1,{"$nulls":3},"A有","12309A","ADCYAP1","chr18:907675","c.126G>A(E3)","p.42,A>A","rs8192597",0.7,0.87,0.85,0.88,0.64,0.85,"纯合","无关","有rs号，MAF>=5%",23981011,{"$nulls":3},5,null,2,0,"ADCYAP1",1,31,"同义",13203,"1.00=3/3",null,116,"18p11","NM_001099733.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18315",28,12,0.43,{"$nulls":3},"A有","12309A","ADCYAP1","chr18:909711","m.725C>T(E5)","非编码区","rs2231190",0.008,0.036,0.033,0.039,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ADCYAP1",1,31,"非编码区",14100,"0.44=18/41",null,116,"18p11","NM_001099733.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1736",5,5,1,{"$nulls":3},"A有","12309A","ADCYAP1R1","chr7:31146455","m.1853A>G(E16)","非编码区","rs2302476",0.51,0.74,0.69,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADCYAP1R1",0.94,91,"非编码区",14200,"1.00=5/5",null,117,"7p14","NM_001118.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17537",121,120,0.99,{"$nulls":3},"A有","12309A","ADD1","chr4:2906707","c.1378G>T(E10)","p.460,G>W","rs4961",0.21,0.5,0.46,0.54,0.5,0.48,"纯合","无关","有rs号，MAF>=5%","18279468;18398333;18513389;18660489;18787518;19131662;19199261;19263529;19330901;19379518;19559392;19574959;19838659;19927152;19960031;20145305;20565774;21194526;21291465;21339657;22198647;22810272","原发性高血压",null,145500,5,1,2,1,"ADD1",1,140,"错义",12210,"0.99=192/193",null,118,"4p16.3","NM_001119.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17536",49,49,1,{"$nulls":3},"A有","12309A","ADD1","chr4:2916762","c.1757C>G(E13)","p.586,S>C","rs4963",0.24,0.5,0.46,0.54,0.48,0.48,"纯合","无关","有rs号，MAF>=5%",19574959,"原发性高血压",null,145500,5,1,2,1,"ADD1",1,140,"错义",12220,"1.00=84/84",null,118,"4p16.3","NM_001119.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10290",119,118,0.99,{"$nulls":3},"A有","12309A","ADGB","chr6:147106841","c.4308A>G(E32)","p.1436,K>K","rs259391",0.55,0.4,0.38,0.42,0.45,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"同义",13203,"0.99=179/180",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"]
["12309A(99)v10291",85,85,1,{"$nulls":3},"A有","12309A","ADGB","chr6:147136212","c.4863A>T(E36)","p.1621,E>D","rs1052444",0.4,0.67,0.65,0.69,0.62,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"错义",12220,"1.00=149/149",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"]
["12309A(99)v10293",69,69,1,{"$nulls":3},"A有","12309A","ADGB","chr6:147136244","c.4895A>G(E36)","p.1632,H>R","rs259370",0.73,0.77,0.74,0.81,0.75,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"错义",12220,"1.00=120/120",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"]
["12309A(99)v10292",18,18,1,{"$nulls":3},"A有","12309A","ADGB","chr6:147136444","m.5136A>C(E36)","非编码区","rs1052449",0.43,0.67,0.65,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"非编码区",14200,"1.00=19/19",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"]
["12309A(99)v10289",6,6,1,{"$nulls":3},"A有","12309A","ADGB","chr6:147136528","m.5220T>C(E36)","非编码区","rs1052451",0.43,0.67,0.65,0.69,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ADGB",1,280,"非编码区",14200,"1.00=6/6",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"]
["12309A(99)v30994",336,163,0.49,{"$nulls":3},"A有","12309A","ADH1B","chr4:100235053","c.753A>G(E6)","p.251,I>I","rs1789882",0.83,0.95,0.96,0.94,0.88,0.91,"杂合","无关","有rs号，MAF>=5%",19193628,"酒精依赖症",null,103780,5,2,2,1,"ADH1B",1,420,"同义",13203,"0.47=295/631",null,125,"4q23","NM_000668.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30993",182,90,0.49,{"$nulls":3},"A有","12309A","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,103780,5,2,2,1,"ADH1B",1,420,"错义",12220,"0.51=138/271",null,125,"4q23","NM_000668.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9595",83,83,1,{"$nulls":3},"A有","12309A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"纯合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","酒精依赖症",null,103780,5,1,2,2,"ADH1C",1,360,"同义",13203,"1.00=119/119",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9595",83,83,1,{"$nulls":3},"A有","12309A","ADH1C","chr4:100266133","c.453T>C(E5)","p.151,T>T","rs2241894",0.47,0.75,0.76,0.74,0.73,0.77,"纯合","无关","有rs号，MAF>=5%","17273965;19193628;19252927;19298322","迟发型帕金森病（易感）",null,168600,5,1,2,2,"ADH1C",1,360,"同义",13203,"1.00=119/119",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9594",159,159,1,{"$nulls":3},"A有","12309A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","酒精依赖症",null,103780,5,1,2,2,"ADH1C",1,360,"加长",15200,"1.00=256/256",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9594",159,159,1,{"$nulls":3},"A有","12309A","ADH1C","chr4:100268190","c.232A>C(E3)","p.78,X>G","rs283413",0.99,1,1,1,0.98,1,"纯合","无关","理论上run-on突变可能会导致蛋白翻译延长，高频MAF>=5%","15642852;17273965;18852891;20101753;24735490","迟发型帕金森病（易感）",null,168600,5,1,2,2,"ADH1C",1,360,"加长",15200,"1.00=256/256",null,126,"4q23","NM_000669.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2837",63,62,0.98,{"$nulls":3},"A有","12309A","ADH4","chr4:100045500","m.1312T>G(E9)","非编码区","rs1042365",0.88,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADH4",1,240,"非编码区",14200,"0.99=100/101",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2838",106,105,0.99,{"$nulls":3},"A有","12309A","ADH4","chr4:100045574","m.1238T>C(E9)","非编码区","rs1042364",0.88,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ADH4",1,240,"非编码区",14200,"0.99=177/178",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2840",122,122,1,{"$nulls":3},"A有","12309A","ADH4","chr4:100045616","c.1120C>T(E9)","p.374,V>I","rs1126673",0.85,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,6,0,"ADH4",1,240,"错义",12220,"1.00=214/214",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2841",151,151,1,{"$nulls":3},"A有","12309A","ADH4","chr4:100048414","c.925T>C(E7)","p.309,I>V","rs1126671",0.85,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","16220108;16685648;17069770;17185388;17273965;18331377;19193628;19298322;19925625",{"$nulls":3},5,null,6,0,"ADH4",1,240,"错义",12220,"0.98=246/250",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2839",211,211,1,{"$nulls":3},"A有","12309A","ADH4","chr4:100052733","c.765C>A(E6)","p.255,P>P","rs1126670",0.85,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%","16685648;17069770;17185388;19193628;19298322",{"$nulls":3},5,null,6,0,"ADH4",1,240,"同义",13203,"1.00=347/347",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2842",125,125,1,{"$nulls":3},"A有","12309A","ADH4","chr4:100062819","c.135A>G(E3)","p.45,S>S","rs2032349",0.96,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",19193628,{"$nulls":3},5,null,6,0,"ADH4",1,240,"同义",13203,"0.99=203/206",null,127,"4q22","NM_000670.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31262",172,171,0.99,{"$nulls":3},"A有","12309A","ADH6","chr4:100140306","c.4A>T(E1)","p.2,C>S","rs4699735",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADH6",1,240,"错义",12230,"0.99=255/257",null,130,"4q23","NM_000672.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13251",4,3,0.75,{"$nulls":3},"A有","12309A","ADH7","chr4:100333932","m.1775A>G(E9)","非编码区","rs3805331",0.071,0.065,0.062,0.068,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADH7",1,270,"非编码区",14200,"0.75=3/4",null,131,"4q23-q24","NM_000673.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13250",8,4,0.5,{"$nulls":3},"A有","12309A","ADH7","chr4:100333977","m.1730T>A(E9)","非编码区","rs284786",0.44,0.59,0.57,0.62,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADH7",1,270,"非编码区",14200,"0.50=4/8",null,131,"4q23-q24","NM_000673.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13249",113,55,0.49,{"$nulls":3},"A有","12309A","ADH7","chr4:100341861","c.690C>T(E6)","p.230,R>R","rs971074",0.12,0.13,0.11,0.16,0.14,0.1,"杂合","无关","有rs号，MAF>=5%","16685648;17185388;17273965;18331377;18996923;19193628;19298322;19500151;19687126;21437268;22674868;23430454;25133033",{"$nulls":3},5,null,3,0,"ADH7",1,270,"同义",13203,"0.47=83/178",null,131,"4q23-q24","NM_000673.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18405",200,200,1,{"$nulls":3},"A有","12309A","ADHFE1","chr8:67380528","c.1345T>C(E14)","p.449,C>R","rs1060242",0.58,0.36,0.36,0.36,0.39,0.41,"纯合","无关","有rs号，MAF>=5%",17708757,{"$nulls":3},5,null,3,0,"ADHFE1",1,260,"错义",12220,"1.00=355/355",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"]
["12309A(99)v18406",52,51,0.98,{"$nulls":3},"A有","12309A","ADHFE1","chr8:67380677","m.1528C>T(E14)","非编码区","rs13682",0.58,0.36,0.36,0.36,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADHFE1",1,260,"非编码区",14200,"0.99=73/74",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"]
["12309A(99)v18404",7,7,1,{"$nulls":3},"A有","12309A","ADHFE1","chr8:67380863","m.1714T>C(E14)","非编码区","rs1108",0.58,0.36,0.36,0.36,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADHFE1",1,260,"非编码区",14200,"1.00=7/7",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"]
["12309A(99)v15955",42,42,1,{"$nulls":3},"A有","12309A","ADIPOQ","chr3:186570892","c.45T>G(E3)","p.15,G>G","rs2241766",0.15,0.28,0.31,0.25,0.27,0.31,"纯合","无关","有rs号，MAF>=5%","15616038;16990411;17357083;17712123;18451143;18523726;18548168;18603647;18716158;18776141;18827209;19035456;19037660;19238139;19573164;19631916;19661719;19696691;19755407;19912668;20201642;20230294;20414354;20664545;20848215;21054480;21219602;21397927;21516303;21619462;21623778;21630088;21637951;21638131;21726267;22070425;22386722;22391941;22583123;22714914;23041095;23065236;23144319;23144325;23200411;23260797;23370338;23552441;23653335;23658423;23740135;23803590;24068295;24293390;24344808;24528335;24713294;24720830;25024592;25074391;25135112;25223469","血清脂联素数量性状位点1",null,612556,5,1,2,1,"ADIPOQ",1,150,"同义",13203,"1.00=56/56",null,9370,"3q27","NM_001177800.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15956",6,6,1,{"$nulls":3},"A有","12309A","ADIPOQ","chr3:186572642","m.1019G>A(E4)","非编码区","rs1501298",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"血清脂联素数量性状位点1",null,612556,5,1,2,1,"ADIPOQ",1,150,"非编码区",14200,"1.00=9/9",null,9370,"3q27","NM_001177800.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11197",38,17,0.45,{"$nulls":3},"A有","12309A","ADIPOR1","chr1:202920300","IVS1-8A>C","剪切位点","rs2275737",0.64,0.84,0.83,0.85,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADIPOR1",1,140,"剪切位点",16202,"0.49=22/45",null,51094,"1q32.1","NM_015999.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7386",96,48,0.5,{"$nulls":3},"A有","12309A","ADIPOR2","chr12:1893170","c.963C>T(E7)","p.321,Y>Y","rs9805042",0.24,0.11,0.13,0.083,0.064,0.091,"杂合","无关","有rs号，MAF>=5%","17216283;20178558",{"$nulls":3},5,null,3,0,"ADIPOR2",1,150,"同义",13203,"0.49=76/154",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"]
["12309A(99)v7387",31,14,0.45,{"$nulls":3},"A有","12309A","ADIPOR2","chr12:1895372","m.1492G>A(E8)","非编码区","rs730032",0.13,0.14,0.14,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADIPOR2",1,150,"非编码区",14200,"0.43=16/37",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"]
["12309A(99)v7385",30,29,0.97,{"$nulls":3},"A有","12309A","ADIPOR2","chr12:1895373","m.1493T>G(E8)","非编码区","rs758169",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADIPOR2",1,150,"非编码区",14200,"0.97=36/37",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"]
["12309A(99)v3445",30,30,1,{"$nulls":3},"A有","12309A","ADNP","chr20:49507892","m.3704T>G(E5)","非编码区","rs761240",0.97,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性精神智力发育迟滞28型","AD",615873,5,1,1,1,"ADNP",1,150,"非编码区",14200,"1.00=35/35",null,23394,"20q13.13","NM_015339.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11860",30,30,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADNP2",1,100,"同义",13203,"1.00=39/39",null,22850,"18q23","NM_014913.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11859",25,25,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADNP2",1,100,"同义",13203,"1.00=36/36",null,22850,"18q23","NM_014913.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2979",89,31,0.35,{"$nulls":3},"A有","12309A","ADORA2B","chr17:15878110-15878112","c.453(E2)至c.455(E2):缺失CAA","缺失非移码","rs71666343",0.061,0.082,0.1,0.058,0.016,0.071,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,1,0,"ADORA2B",0.92,65,"缺失非移码",2222,"0.39=38/98",null,136,"17p12","NM_000676.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26545",8,4,0.5,{"$nulls":3},"A有","12309A","ADORA3","chr1:112042383","m.1913G>A(E2)","非编码区","rs923",0.77,0.76,0.76,0.76,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADORA3",1,120,"非编码区",14200,"0.50=4/8",null,140,"1p13.2","NM_000677.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26546",61,35,0.57,{"$nulls":3},"A有","12309A","ADORA3","chr1:112042632","c.897A>G(E2)","p.299,A>A","rs2229155",0.77,0.76,0.76,0.76,0.75,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADORA3",1,120,"同义",13203,"0.56=53/95",null,140,"1p13.2","NM_000677.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27262",43,19,0.44,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADPGK",0.84,140,"非编码区",14200,"0.42=32/76",null,83440,"15q24.1","NM_031284.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27263",219,219,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADPGK",0.84,140,"同义",13203,"1.00=430/430",null,83440,"15q24.1","NM_031284.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14349",27,26,0.96,{"$nulls":3},"A有","12309A","ADPRH","chr3:119305169","c.336G>A(E4)","p.112,P>P","rs20569",0.2,0.26,0.25,0.27,0.29,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADPRH",1,84,"同义",13203,"0.98=42/43",null,141,"3q13.31-q13.33","NM_001125.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7341",96,48,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADPRM",1,200,"错义",12220,"0.47=68/144",null,56985,"17p13.1","NM_020233.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7342",4,2,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADPRM",1,200,"非编码区",14200,"0.40=2/5",null,56985,"17p13.1","NM_020233.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v841",12,6,0.5,{"$nulls":3},"A有","12309A","ADRA1A","chr8:26623384","m.1988G>A(E3)","非编码区","rs3802241",0.64,0.89,0.92,0.86,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRA1A",0.93,76,"非编码区",14200,"0.50=6/12",null,148,"8p21.2","NM_033304.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v843",42,6,0.14,{"$nulls":3},"A有","12309A","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",{"$nulls":4},4,null,3,0,"ADRA1A",0.93,76,"非编码区",2420,"0.16=7/45",null,148,"8p21.2","NM_033304.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v842",75,34,0.45,{"$nulls":3},"A有","12309A","ADRA1A","chr8:26628028","c.1039A>G(E2)","p.347,C>R","rs1048101",0.65,0.89,0.92,0.86,0.85,0.91,"杂合","无关","有rs号，MAF>=5%","15900517;16642433;18444252;19102884;19565482;19730237;20173430;23849431",{"$nulls":3},5,null,3,0,"ADRA1A",0.93,76,"错义",12220,"0.50=64/128",null,148,"8p21.2","NM_000680.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28899",54,23,0.43,{"$nulls":3},"A有","12309A","ADRA1B","chr5:159344461","c.549G>A(E1)","p.183,G>G","rs3729604",0.2,0.33,0.3,0.35,0.32,0.37,"杂合","无关","有rs号，MAF>=5%",20008943,{"$nulls":3},5,null,1,0,"ADRA1B",0.82,35,"同义",13203,"0.44=41/94",null,147,"5q33.3","NM_000679.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25636",7,2,0.29,{"$nulls":3},"A有","12309A","ADRA1D","chr20:4202041","m.1903T>A(E2)","非编码区","rs2236554",0.34,0.33,0.36,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRA1D",0.82,8,"非编码区",14200,"0.29=4/14",null,146,"20p13","NM_000678.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25635",34,13,0.38,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ADRA1D",0.82,8,"非编码区",16203,"0.45=27/60",null,146,"20p13","NM_000678.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14383",30,30,1,{"$nulls":3},"A有","12309A","ADRA2B","chr2:96780716","c.1173T>G(E1)","p.391,G>G","rs2229169",0.71,0.54,0.53,0.54,0.52,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRA2B",1,13,"同义",13203,"1.00=50/50",null,151,"2q11.1","NM_000682.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14382",3,3,1,{"$nulls":3},"A有","12309A","ADRA2B","chr2:96781853","c.36T>C(E1)","p.12,T>T","rs9333567",0.096,0.19,0.2,0.18,0.12,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ADRA2B",1,13,"同义",13203,"1.00=3/3",null,151,"2q11.1","NM_000682.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13692",16,10,0.62,{"$nulls":3},"A有","12309A","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",600807,5,1,2,2,"ADRB2",1,110,"错义",12230,"0.56=10/18",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"]
["12309A(99)v13692",16,10,0.62,{"$nulls":3},"A有","12309A","ADRB2","chr5:148206440","c.46G>A(E1)","p.16,G>R","rs1042713",0.48,0.58,0.61,0.55,0.49,0.55,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16741943;16935688;17143563;17150099;17199132;17512307;18191955;18304332;18482449;18513389;18534365;18599530;18603647;18615004;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19553224;19559392;19565482;19576569;19619703;19717003;19745160;19779622;20044476;20049212;20078877;20167428;20230274;20401335;20523301;20592916;21233812;21613201;21883537;22864926;22900502;22985077;23229623;23229733;23463918;23786226;24012958;24201779;24838642;24879436;24944790;24960039;25050782;25111792","体重指数数量性状位点10",null,607514,5,2,2,2,"ADRB2",1,110,"错义",12230,"0.56=10/18",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13691",21,12,0.57,{"$nulls":3},"A有","12309A","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",600807,5,1,2,2,"ADRB2",1,110,"错义",12230,"0.59=17/29",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"]
["12309A(99)v13691",21,12,0.57,{"$nulls":3},"A有","12309A","ADRB2","chr5:148206473","c.79G>C(E1)","p.27,E>Q","rs1042714",0.8,0.92,0.95,0.89,0.82,0.91,"杂合","无关","有rs号，MAF>=5%","15500681;15726497;16385446;16600026;16642433;16741943;16935688;17143563;17150099;17199132;17512307;18279468;18304332;18513389;18534365;18599530;18603647;18611262;18615004;18625943;18640383;18647184;18709160;18719656;18936436;19111454;19131662;19186333;19190821;19263529;19284637;19330901;19379518;19553224;19559392;19565482;19576569;19619703;19717003;19730237;19779622;20049212;20230274;20401335;20523301;20565774;20592916;21059181;21233812;21291465;21395649;21613201;21883537;22199155;22864926;22900502;22985077;23229623;23229733;23463918;23786226;23911093;24012958;24322328;24714117;24960039;25050782;25111792","体重指数数量性状位点10",null,607514,5,2,2,2,"ADRB2",1,110,"错义",12230,"0.59=17/29",null,154,"5q31-q32","NM_000024.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18174",8,8,1,{"$nulls":3},"A有","12309A","ADRBK1","chr11:67050292","IVS14+3G>A","剪切位点","rs2071007",0.65,0.73,0.69,0.78,0.61,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADRBK1",0.95,38,"剪切位点",16202,"1.00=11/11",null,156,"11q13.1","NM_001619.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29449",37,20,0.54,{"$nulls":3},"A有","12309A","ADRM1","chr20:60881330","c.408G>A(E4)","p.136,A>A","rs2427273",0.82,0.97,0.98,0.97,0.96,0.98,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRM1",0.96,35,"同义",13203,"0.59=34/58",null,11047,"20q13.33","NM_007002.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29451",8,3,0.38,{"$nulls":3},"A有","12309A","ADRM1","chr20:60881780","c.531T>C(E5)","p.177,L>L","rs2427275",0.96,0.98,1,0.97,0.81,0.99,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ADRM1",0.96,35,"同义",13203,"0.45=5/11",null,11047,"20q13.33","NM_007002.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29450",12,5,0.42,{"$nulls":3},"A有","12309A","ADRM1","chr20:60883201","c.981C>T(E8)","p.327,I>I","rs77432560",0.009,0.017,0.0048,0.029,0.014,0.012,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADRM1",0.96,35,"同义",13103,"0.38=6/16",null,11047,"20q13.33","NM_007002.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11154",89,34,0.38,{"$nulls":3},"A有","12309A","ADTRP","chr6:11723636","c.658C>T(E6)","p.220,V>I","rs2076185",0.16,0.5,0.49,0.5,0.45,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ADTRP",1,250,"错义",12220,"0.40=62/154",null,84830,"6p24.1","NM_001143948.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6803",16,9,0.56,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"AEBP1",1,59,"错义",12220,"0.56=10/18",null,165,"7p13","NM_001129.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6804",27,27,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"AEBP1",1,59,"同义",13203,"1.00=45/45",null,165,"7p13","NM_001129.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v82",12,12,1,{"$nulls":3},"A有","12309A","AEN","chr15:89169858","c.418A>G(E2)","p.140,N>D","rs8027765",0.76,0.77,0.79,0.76,0.72,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AEN",1,18,"错义",12220,"1.00=14/14",null,64782,"15q26.1","NM_022767.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v80",15,15,1,{"$nulls":3},"A有","12309A","AEN","chr15:89172558","c.642G>C(E3)","p.214,T>T","rs3743475",0.75,0.77,0.79,0.76,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AEN",1,18,"同义",13203,"1.00=28/28",null,64782,"15q26.1","NM_022767.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v81",2,2,1,{"$nulls":3},"A有","12309A","AEN","chr15:89173657","m.1261A>T(E4)","非编码区","rs3826038",null,0.78,0.79,0.76,null,0.74,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"AEN",1,18,"非编码区",14300,"1.00=2/2",null,64782,"15q26.1","NM_022767.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2396",73,33,0.45,{"$nulls":3},"A有","12309A","AFAP1","chr4:7770723","c.2266G>T(E17)","p.756,R>R","rs2285761",0.37,0.65,0.67,0.63,0.67,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFAP1",1,150,"同义",13203,"0.45=57/126",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2395",93,53,0.57,{"$nulls":3},"A有","12309A","AFAP1","chr4:7783163","c.1722G>A(E13)","p.574,S>S","rs28542374",0.63,0.82,0.86,0.79,0.81,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AFAP1",1,150,"同义",13203,"0.60=93/154",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2394",68,34,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"AFAP1",1,150,"同义",13203,"0.50=49/98",null,60312,"4p16","NM_001134647.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30020",17,14,0.82,{"$nulls":3},"A有","12309A","AFAP1L2","chr10:116060194-116060195","IVS14+10至IVS14+9:插入G","非编码区","rs3214266",0.94,1,1,1,0.17,0.99,"杂合","无关","内含子突变",{"$nulls":4},5,null,4,0,"AFAP1L2",1,90,"非编码区",2500,"0.83=15/18",null,84632,"10q25.3","NM_001001936.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30018",25,14,0.56,{"$nulls":3},"A有","12309A","AFAP1L2","chr10:116060387","c.1605T>C(E14)","p.535,R>R","rs2286396",null,0.72,0.72,0.71,0.68,0.73,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"AFAP1L2",1,90,"同义",13303,"0.63=22/35",null,84632,"10q25.3","NM_001001936.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30017",37,36,0.97,{"$nulls":3},"A有","12309A","AFAP1L2","chr10:116073696","c.726C>T(E7)","p.242,T>T","rs3813722",0.58,0.9,0.88,0.91,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AFAP1L2",1,90,"同义",13203,"0.98=61/62",null,84632,"10q25.3","NM_001001936.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30019",18,18,1,{"$nulls":3},"A有","12309A","AFAP1L2","chr10:116091555","IVS4+7T>C","非编码区","rs10787524",0.74,0.97,0.97,0.98,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AFAP1L2",1,90,"非编码区",16203,"1.00=26/26",null,84632,"10q25.3","NM_001001936.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27779",64,64,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"AFF1",1,170,"非编码区",14200,"1.00=109/109",null,4299,"4q21","NM_001166693.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14246",86,86,1,{"$nulls":3},"A有","12309A","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",1,100,"非编码区",16303,"1.00=149/149",null,2334,"Xq28","NM_001169122.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4017",106,51,0.48,{"$nulls":3},"A有","12309A","AFF3","chr2:100199386","c.2742G>T(E16)","p.914,H>Q","rs117712488",0.0082,0.046,0.038,0.053,0.038,0.048,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"AFF3",0.99,110,"错义",12110,"0.47=82/173",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"]
["12309A(99)v4018",208,205,0.99,{"$nulls":3},"A有","12309A","AFF3","chr2:100343557","c.1148C>T(E10)","p.383,S>N","rs4851223",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AFF3",0.99,110,"错义",12230,"0.99=349/353",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"]
["12309A(99)v28217",85,40,0.47,{"$nulls":3},"A有","12309A","AFG3L2","chr18:12329536","m.2616C>G(E17)","非编码区","rs1129115",0.34,0.35,0.37,0.33,null,0.38,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,230,"非编码区",14200,"0.42=57/135",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28217",85,40,0.47,{"$nulls":3},"A有","12309A","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",0.95,230,"非编码区",14200,"0.42=57/135",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28215",126,59,0.47,{"$nulls":3},"A有","12309A","AFG3L2","chr18:12348285","c.1650T>C(E13)","p.550,E>E","rs11553521",0.71,0.63,0.62,0.65,0.6,0.61,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,230,"同义",13203,"0.45=101/226",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28215",126,59,0.47,{"$nulls":3},"A有","12309A","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",0.95,230,"同义",13203,"0.45=101/226",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28218",137,75,0.55,{"$nulls":3},"A有","12309A","AFG3L2","chr18:12351342","c.1389C>T(E11)","p.463,L>L","rs11080572",0.62,0.62,0.62,0.63,0.6,0.6,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,230,"同义",13203,"0.54=127/237",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28218",137,75,0.55,{"$nulls":3},"A有","12309A","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",0.95,230,"同义",13203,"0.54=127/237",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28216",168,77,0.46,{"$nulls":3},"A有","12309A","AFG3L2","chr18:12359920","IVS7+6G>A","剪切位点","rs8097342",0.62,0.62,0.61,0.63,0.63,0.6,"杂合","无关","有rs号，MAF>=5%",null,"脊髓小脑型共济失调28型,AFG3L2突变型","AD",610246,5,1,4,2,"AFG3L2",0.95,230,"剪切位点",16202,"0.44=132/302",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28216",168,77,0.46,{"$nulls":3},"A有","12309A","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",0.95,230,"剪切位点",16202,"0.44=132/302",null,10939,"18p11","NM_006796.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28627",163,83,0.51,{"$nulls":3},"A有","12309A","AFP","chr4:74302071","IVS1+7T>A","非编码区","rs3796678",0.5,0.56,0.6,0.52,0.53,0.59,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,220,"非编码区",16203,"0.53=143/270",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28627",163,83,0.51,{"$nulls":3},"A有","12309A","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",1,220,"非编码区",16203,"0.53=143/270",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"]
["12309A(99)v28623",171,87,0.51,{"$nulls":3},"A有","12309A","AFP","chr4:74302870","IVS1-7T>C","剪切位点","rs16849384",0.42,0.44,0.4,0.48,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,220,"剪切位点",16202,"0.51=167/327",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28623",171,87,0.51,{"$nulls":3},"A有","12309A","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",1,220,"剪切位点",16202,"0.51=167/327",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"]
["12309A(99)v28626",130,58,0.45,{"$nulls":3},"A有","12309A","AFP","chr4:74310844","IVS7+5A>G","剪切位点","rs2298839",0.51,0.65,0.68,0.62,0.64,0.69,"杂合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,2,5,2,"AFP",1,220,"剪切位点",16202,"0.43=87/200",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28626",130,58,0.45,{"$nulls":3},"A有","12309A","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",1,220,"剪切位点",16202,"0.43=87/200",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"]
["12309A(99)v28624",29,29,1,{"$nulls":3},"A有","12309A","AFP","chr4:74313169","IVS7-10T>C","剪切位点","rs7667494",1,1,1,1,0.86,1,"纯合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,1,5,2,"AFP",1,220,"剪切位点",16202,"1.00=42/42",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28624",29,29,1,{"$nulls":3},"A有","12309A","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",1,220,"剪切位点",16202,"1.00=42/42",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"]
["12309A(99)v28625",66,65,0.98,{"$nulls":3},"A有","12309A","AFP","chr4:74318330","c.1641A>G(E12)","p.547,T>T","rs4235117",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"α甲胎蛋白缺乏症",null,615969,5,1,5,2,"AFP",1,220,"同义",13203,"0.99=106/107",null,174,"4q13.3","NM_001134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28625",66,65,0.98,{"$nulls":3},"A有","12309A","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",1,220,"同义",13203,"0.99=106/107",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"]
["12309A(99)v9988",32,15,0.47,{"$nulls":3},"A有","12309A","AGA","chr4:178352679","m.1352T>G(E9)","非编码区","rs1061814",0.46,0.51,0.57,0.46,null,0.55,"杂合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,3,2,1,"AGA",1,230,"非编码区",14200,"0.45=19/42",null,175,"4q34.3","NM_000027.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9987",107,107,1,{"$nulls":3},"A有","12309A","AGA","chr4:178359960","c.446G>C(E4)","p.149,T>S","rs2228119",0.92,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"天门冬酰氨葡萄糖尿症","AR",208400,5,1,2,1,"AGA",1,230,"错义",12220,"1.00=186/186",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"]
["12309A(99)v15520",80,79,0.99,{"$nulls":3},"A有","12309A","AGAP1","chr2:236957822","c.2011G>A(E16)","p.671,V>I","rs2034648",0.69,0.73,0.72,0.73,0.73,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP1",0.94,97,"错义",12220,"0.99=129/130",null,116987,"2q37","NM_001037131.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15519",26,12,0.46,{"$nulls":3},"A有","12309A","AGAP1","chr2:237032607","c.2415T>G(E18)","p.805,A>A","rs11895915",0.38,0.31,0.31,0.3,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP1",0.94,97,"同义",13203,"0.46=18/39",null,116987,"2q37","NM_001037131.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15518",39,16,0.41,{"$nulls":3},"A有","12309A","AGAP1","chr2:237032703","c.2511T>C(E18)","p.837,P>P","rs8178994",0.4,0.3,0.31,0.3,0.23,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP1",0.94,97,"同义",13203,"0.35=24/68",null,116987,"2q37","NM_001037131.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15517",25,13,0.52,{"$nulls":3},"A有","12309A","AGAP1","chr2:237032837","m.3243G>A(E18)","非编码区","rs11899677",0.38,0.3,0.31,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP1",0.94,97,"非编码区",14200,"0.50=18/36",null,116987,"2q37","NM_001037131.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20256",35,35,1,{"$nulls":3},"A有","12309A","AGAP11","chr10:88752206","m.567G>A(E4)","非编码区","rs1745903",0.39,0.24,0.21,0.27,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,170,"非编码区",14200,"1.00=63/63",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"]
["12309A(99)v20255",167,167,1,{"$nulls":3},"A有","12309A","AGAP11","chr10:88768253","c.244A>G(E12)","p.82,I>V","rs2641563",0.79,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,170,"错义",12220,"1.00=258/258",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"]
["12309A(99)v20253",65,34,0.52,{"$nulls":3},"A有","12309A","AGAP11","chr10:88768423","c.414A>G(E12)","p.138,T>T","rs2641562",0.4,0.69,0.73,0.65,0.68,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,170,"同义",13203,"0.49=41/83",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"]
["12309A(99)v20254",103,102,0.99,{"$nulls":3},"A有","12309A","AGAP11","chr10:88768657","c.648C>T(E12)","p.216,D>D","rs1745901",0.78,0.93,0.93,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"AGAP11",1,170,"同义",13203,"0.99=161/163",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"]
["12309A(99)v25394",50,24,0.48,{"$nulls":3},"A有","12309A","AGAP4","chr10:46321904","c.1451C>T(E7)","p.484,R>H","rs202104169",{"$nulls":4},0.41,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AGAP4",1,110,"错义",12310,"0.38=28/73",null,119016,"10q11.22","NM_133446.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26386",8,5,0.62,{"$nulls":3},"A有","12309A","AGAP6","chr10:51748266-51748267","m.189(E1)至m.190(E1):缺失AG","非编码区",null,null,0.16,0.15,0.17,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"AGAP6",1,170,"非编码区",2440,"0.67=6/9",null,414189,"10q11.23","NM_001077665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26385",161,139,0.86,{"$nulls":3},"A有","12309A","AGAP6","chr10:51748684","c.209G>A(E1)","p.70,R>Q","rs61848260",0.5,0.35,0.31,0.39,null,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP6",1,170,"错义",12220,"0.87=240/277",null,414189,"10q11.23","NM_001077665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16495",86,86,1,{"$nulls":3},"A有","12309A","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,2,0,"AGAP7",1,180,"错义",12320,"1.00=142/142",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"]
["12309A(99)v16494",88,26,0.3,{"$nulls":3},"A有","12309A","AGAP7","chr10:51465650","c.806C>T(E7)","p.269,R>Q","rs199898426",0.38,0.48,0.45,0.51,0.3,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGAP7",1,180,"错义",12210,"0.30=34/112",null,653268,"10q11.23","NM_001077685.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6311",44,33,0.75,{"$nulls":3},"A有","12309A","AGAP8","chr10:51225623","c.1359A>G(E7)","p.453,N>N","rs200187422",0.82,0.88,0.9,0.85,0.49,0,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP8",1,110,"同义",13203,"0.77=54/70",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"]
["12309A(99)v6310",18,9,0.5,{"$nulls":3},"A有","12309A","AGAP8","chr10:51225724","c.1258G>C(E7)","p.420,L>V","rs200027998",0.37,0.59,0.63,0.54,0.29,0.94,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGAP8",1,110,"错义",12220,"0.43=10/23",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"]
["12309A(99)v6312",47,34,0.72,{"$nulls":3},"A有","12309A","AGAP8","chr10:51225872","c.1110G>T(E7)","p.370,P>P",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"AGAP8",1,110,"同义",13403,"0.69=49/71",null,728404,"10q11.23","NM_001077686.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17797",81,39,0.48,{"$nulls":3},"A有","12309A","AGBL1","chr15:86807761","c.1221A>G(E10)","p.407,E>E","rs10520618",0.51,0.37,0.4,0.33,0.35,0.36,"杂合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"同义",13203,"0.50=61/121",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"]
["12309A(99)v17798",137,77,0.56,{"$nulls":3},"A有","12309A","AGBL1","chr15:86814866","c.1866A>G(E14)","p.622,L>L","rs11858435",0.68,0.4,0.43,0.37,0.39,0.38,"杂合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"同义",13203,"0.62=151/243",null,123624,"15q25.3","NM_152336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17796",139,139,1,{"$nulls":3},"A有","12309A","AGBL1","chr15:86940622","c.2262T>C(E17)","p.754,T>T","rs4362360",0.74,0.87,0.87,0.87,0.88,0.88,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"同义",13203,"1.00=225/225",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"]
["12309A(99)v17799",50,50,1,{"$nulls":3},"A有","12309A","AGBL1","chr15:87217613","c.3029A>G(E22)","p.1010,Q>R","rs8028043",0.89,0.92,0.94,0.89,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"错义",12220,"1.00=69/69",null,123624,"15q25.3","NM_152336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17800",217,216,1,{"$nulls":3},"A有","12309A","AGBL1","chr15:87531281","c.3147A>C(E23)","p.1049,T>T","rs1006030",0.82,0.9,0.91,0.89,0.88,0.91,"纯合","无关","有rs号，MAF>=5%",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,5,1,"AGBL1",1,180,"同义",13203,"0.99=392/395",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"]
["12309A(99)v3527",76,74,0.97,{"$nulls":3},"A有","12309A","AGBL2","chr11:47701528","c.2013C>A(E13)","p.671,M>I","rs12286721",0.58,0.62,0.61,0.63,0.64,0.62,"纯合","无关","有rs号，MAF>=5%",19060910,{"$nulls":3},5,null,1,0,"AGBL2",1,230,"错义",12220,"0.97=127/131",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"]
["12309A(99)v14236",280,279,1,{"$nulls":3},"A有","12309A","AGBL3","chr7:134701856","c.364G>C(E5)","p.122,E>Q","rs4236655",0.91,1,1,1,1,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGBL3",1,300,"错义",12220,"1.00=501/503",null,340351,"7q33","NM_178563.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14237",136,136,1,{"$nulls":3},"A有","12309A","AGBL3","chr7:134719551","c.1209C>G(E7)","p.403,L>L","rs9656447",0.91,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGBL3",1,300,"同义",13203,"1.00=217/217",null,340351,"7q33","NM_178563.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24202",89,40,0.45,{"$nulls":3},"A有","12309A","AGBL4","chr1:49511424","c.426A>G(E5)","p.142,H>H","rs3934240",0.23,0.38,0.42,0.34,0.38,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGBL4",1,210,"同义",13203,"0.48=70/145",null,84871,"1p33","NM_032785.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11705",96,45,0.47,{"$nulls":3},"A有","12309A","AGBL5","chr2:27293150","m.2897G>T(E15)","非编码区","rs1053609",0.55,0.71,0.78,0.65,null,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGBL5",1,110,"非编码区",14200,"0.44=66/150",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"]
["12309A(99)v12333",97,43,0.44,{"$nulls":3},"A有","12309A","AGFG1","chr2:228398422","c.1044A>G(E8)","p.348,A>A","rs13015491",0.069,0.13,0.15,0.11,0.1,0.096,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGFG1",0.98,240,"同义",13203,"0.43=68/157",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"]
["12309A(99)v12332",83,44,0.53,{"$nulls":3},"A有","12309A","AGFG1","chr2:228416712","c.1488A>G(E12)","p.496,T>T","rs13426457",0.77,0.68,0.64,0.71,0.67,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGFG1",0.98,240,"同义",13203,"0.47=60/129",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"]
["12309A(99)v8982",153,153,1,{"$nulls":3},"A有","12309A","AGGF1","chr5:76359024","c.2092C>A(E14)","p.698,P>T","rs34400049",0.21,0.24,0.25,0.23,0.26,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AGGF1",1,270,"错义",12220,"1.00=245/246",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"]
["12309A(99)v2514",245,114,0.47,{"$nulls":3},"A有","12309A","AGL","chr1:100316589","IVS1-2A>G","剪切位点","rs2307130",0.43,0.56,0.52,0.59,0.5,0.53,"杂合","无关","突变在经典剪切位点上",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,3,4,1,"AGL",1,310,"剪切位点",16204,"0.47=194/416",null,178,"1p21","NM_000644.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2513",147,67,0.46,{"$nulls":3},"A有","12309A","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",232400,5,3,4,1,"AGL",1,310,"同义",13203,"0.48=122/256",null,178,"1p21","NM_000028.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2512",137,76,0.55,{"$nulls":3},"A有","12309A","AGL","chr1:100340787","c.1160G>A(E9)","p.387,R>Q","rs17121464",0.08,0.18,0.19,0.17,0.19,0.18,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,3,4,1,"AGL",1,310,"错义",12220,"0.56=123/219",null,178,"1p21","NM_000028.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2510",100,46,0.46,{"$nulls":3},"A有","12309A","AGL","chr1:100346741","IVS15+8T>C","非编码区","rs3736296",0.56,0.69,0.64,0.73,null,0.66,"杂合","无关","有rs号，MAF>=5%",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,5,3,4,1,"AGL",1,310,"非编码区",16203,"0.49=73/149",null,178,"1p21","NM_000028.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23677",52,52,1,{"$nulls":3},"A有","12309A","AGMAT","chr1:15909850","c.313C>G(E2)","p.105,G>R","rs6429757",0.63,0.6,0.59,0.61,0.6,0.63,"纯合","无关","有rs号，MAF>=5%",20808825,{"$nulls":3},5,null,2,0,"AGMAT",0.83,84,"错义",12220,"1.00=68/68",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"]
["12309A(99)v23678",38,38,1,{"$nulls":3},"A有","12309A","AGMAT","chr1:15909895","IVS1-5A>G","剪切位点","rs6429758",0.61,0.6,0.59,0.61,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AGMAT",0.83,84,"剪切位点",16202,"1.00=53/53",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"]
["12309A(99)v19393",250,106,0.42,{"$nulls":3},"A有","12309A","AGMO","chr7:15433761","c.653G>C(E6)","p.218,P>R","rs150962030",{"$nulls":6},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"AGMO",1,340,"错义",12310,"0.44=211/477",null,392636,"7p21.2","NM_001004320.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19940",59,28,0.47,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"AGR2",1,310,"非编码区",14200,"0.44=35/79",null,10551,"7p21.3","NM_006408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19938",88,88,1,{"$nulls":3},"A有","12309A","AGR2","chr7:16834551","IVS7+9C>A","非编码区","rs4719480",0.92,0.97,0.98,0.97,0.95,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AGR2",1,310,"非编码区",16203,"1.00=135/135",null,10551,"7p21.3","NM_006408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19939",100,50,0.5,{"$nulls":3},"A有","12309A","AGR2","chr7:16834597","c.441A>G(E7)","p.147,N>N","rs6842",0.34,0.32,0.34,0.31,0.32,0.29,"杂合","无关","有rs号，MAF>=5%",18973922,{"$nulls":3},5,null,3,0,"AGR2",1,310,"同义",13203,"0.50=78/157",null,10551,"7p21.3","NM_006408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12417",102,53,0.52,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"AGR3",1,320,"非编码区",14200,"0.51=87/171",null,155465,"7p21.1","NM_176813.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12418",214,213,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"AGR3",1,320,"非编码区",16203,"0.99=363/365",null,155465,"7p21.1","NM_176813.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18326",2,2,1,{"$nulls":3},"A有","12309A","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",0.84,10,"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"]
["12309A(99)v18327",11,11,1,{"$nulls":3},"A有","12309A","AGRN","chr1:982994","c.3558T>C(E21)","p.1186,F>F","rs10267",0.84,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,4,1,"AGRN",0.84,10,"同义",13203,"1.00=16/16",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18325",2,2,1,{"$nulls":3},"A有","12309A","AGRN","chr1:984302","c.4161T>C(E24)","p.1387,T>T","rs9442391",0.55,0.81,0.82,0.8,0.6,0.84,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,4,1,"AGRN",0.84,10,"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"]
["12309A(99)v18324",18,18,1,{"$nulls":3},"A有","12309A","AGRN","chr1:987200","IVS33+5C>T","剪切位点","rs9803031",0.79,1,0.99,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,4,1,"AGRN",0.84,10,"剪切位点",16202,"1.00=30/30",null,375790,"1p36.33","NM_198576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16759",17,17,1,{"$nulls":3},"A有","12309A","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,145500,4,1,3,3,"AGT",1,39,"同义",13303,"1.00=23/23",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"]
["12309A(99)v16759",17,17,1,{"$nulls":3},"A有","12309A","AGT","chr1:230841687","c.1116T>C(E3)","p.372,L>L","rs7080",null,1,1,1,0.95,1,"纯合","未知","预测范围之外的同义突变",null,"子痫前期/子痫1型","AD",189800,4,1,3,3,"AGT",1,39,"同义",13303,"1.00=23/23",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16759",17,17,1,{"$nulls":3},"A有","12309A","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",267430,4,1,3,3,"AGT",1,39,"同义",13303,"1.00=23/23",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"]
["12309A(99)v16760",19,19,1,{"$nulls":3},"A有","12309A","AGT","chr1:230845794","c.803A>G(E2)","p.268,M>T","rs699",0.71,0.83,0.87,0.79,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","18069999;18248681;18279468;18513389;18603647;18637188;18653189;18698212;18953568;19108684;19131662;19263529;19330901;19559392;19932491;20029521;20061926;20185782;20486282;20570668;20592051;21261619;21304999;21306748;21438754;21988197;22531885;22569109;22858200;23021345;23132613;23251296;23287839;23333443;23354977;23681449;23716723;24622918;24722536;24737640;25020710","原发性高血压",null,145500,5,1,3,3,"AGT",1,39,"错义",12220,"1.00=32/32",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16760",19,19,1,{"$nulls":3},"A有","12309A","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",189800,5,1,3,3,"AGT",1,39,"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"]
["12309A(99)v16760",19,19,1,{"$nulls":3},"A有","12309A","AGT","chr1:230845794","c.803A>G(E2)","p.268,M>T","rs699",0.71,0.83,0.87,0.79,0.79,0.84,"纯合","无关","有rs号，MAF>=5%","18069999;18248681;18279468;18513389;18603647;18637188;18653189;18698212;18953568;19108684;19131662;19263529;19330901;19559392;19932491;20029521;20061926;20185782;20486282;20570668;20592051;21261619;21304999;21306748;21438754;21988197;22531885;22569109;22858200;23021345;23132613;23251296;23287839;23333443;23354977;23681449;23716723;24622918;24722536;24737640;25020710","肾小管发育不良","AR",267430,5,1,3,3,"AGT",1,39,"错义",12220,"1.00=32/32",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16757",18,8,0.44,{"$nulls":3},"A有","12309A","AGT","chr1:230846207","c.390C>T(E2)","p.130,G>G",{"$nulls":5},6.6E-4,3.5E-4,"杂合","未知","预测范围之外的同义突变",null,"原发性高血压",null,145500,4,2,3,3,"AGT",1,39,"同义",13403,"0.45=13/29",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16757",18,8,0.44,{"$nulls":3},"A有","12309A","AGT","chr1:230846207","c.390C>T(E2)","p.130,G>G",{"$nulls":5},6.6E-4,3.5E-4,"杂合","未知","预测范围之外的同义突变",null,"子痫前期/子痫1型","AD",189800,4,1,3,3,"AGT",1,39,"同义",13403,"0.45=13/29",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16757",18,8,0.44,{"$nulls":3},"A有","12309A","AGT","chr1:230846207","c.390C>T(E2)","p.130,G>G",{"$nulls":5},6.6E-4,3.5E-4,"杂合","未知","预测范围之外的同义突变",null,"肾小管发育不良","AR",267430,4,3,3,3,"AGT",1,39,"同义",13403,"0.45=13/29",null,183,"1q42.2","NM_000029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13573",143,143,1,{"$nulls":3},"A有","12309A","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",0.92,140,"同义",13203,"1.00=247/247",null,185,"3q24","NM_000685.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13573",143,143,1,{"$nulls":3},"A有","12309A","AGTR1","chr3:148459395","c.573C>T(E3)","p.191,L>L","rs5182",0.46,0.7,0.72,0.68,0.69,0.7,"纯合","无关","有rs号，MAF>=5%","17211857;18049108;21671168;21846682;24622918;24722536;24944790","肾小管发育不良","AR",267430,5,1,1,2,"AGTR1",0.92,140,"同义",13203,"1.00=247/247",null,185,"3q24","NM_000685.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27484",2,2,1,{"$nulls":3},"A有","12309A","AGTR2","chrX:115304824","m.1498G>T(E3)","非编码区","rs5193",null,0.16,0.13,0.19,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"AGTR2",1,79,"非编码区",14300,"1.00=2/2",null,186,"Xq22-q23","NM_000686.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27485",2,2,1,{"$nulls":3},"A有","12309A","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",{"$nulls":4},3,null,2,0,"AGTR2",1,79,"非编码区",14300,"1.00=2/2",null,186,"Xq22-q23","NM_000686.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9013",2,2,1,{"$nulls":3},"A有","12309A","AGTRAP","chr1:11796169-11796173","m.28(E1)至m.32(E1):缺失GGGCG","非编码区","rs146190997",0.99,1,1,1,0,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"AGTRAP",1,62,"非编码区",2420,"1.00=2/2",null,57085,"1p36.22","NM_001040194.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21709",152,150,0.99,{"$nulls":3},"A有","12309A","AGXT2","chr5:34998778","m.1834C>A(E14)","非编码区","rs16899972",0.48,0.55,0.59,0.5,null,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AGXT2",1,220,"非编码区",14200,"0.99=274/277",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21708",222,221,1,{"$nulls":3},"A有","12309A","AGXT2","chr5:34998877","c.1492C>A(E14)","p.498,V>L","rs16899974",0.24,0.4,0.43,0.36,0.37,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AGXT2",1,220,"错义",12220,"1.00=385/386",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21713",111,111,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,7,0,"AGXT2",1,220,"同义",13203,"1.00=191/191",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21711",113,111,0.98,{"$nulls":3},"A有","12309A","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,{"$nulls":3},5,null,7,0,"AGXT2",1,220,"错义",12210,"0.98=188/191",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21714",64,26,0.41,{"$nulls":3},"A有","12309A","AGXT2","chr5:35037115","c.418C>T(E4)","p.140,V>I","rs37369",0.39,0.56,0.53,0.58,0.55,0.58,"杂合","无关","有rs号，MAF>=5%","21572414;21931564;23023372;24159190;24727203;24834905",{"$nulls":3},5,null,7,0,"AGXT2",1,220,"错义",12220,"0.45=45/101",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21712",111,50,0.45,{"$nulls":3},"A有","12309A","AGXT2","chr5:35039437","c.354A>G(E3)","p.118,H>H","rs2279651",0.4,0.23,0.23,0.24,0.27,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AGXT2",1,220,"同义",13203,"0.40=74/183",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21710",138,66,0.48,{"$nulls":3},"A有","12309A","AGXT2","chr5:35039486","c.305C>T(E3)","p.102,S>N","rs37370",null,0.52,0.52,0.53,0.57,0.53,"杂合","未知","蛋白结构预测结果为容忍或无害","18207134;24159190;24727203",{"$nulls":3},3,null,7,0,"AGXT2",1,220,"错义",12320,"0.46=104/228",null,64902,"5p13","NM_031900.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30804",81,40,0.49,{"$nulls":3},"A有","12309A","AGXT2L2","chr5:177638902","m.1625T>C(E12)","非编码区","rs181773452",0.0012,0.0024,0.0048,0,null,0.0026,"杂合","未知","UTR突变可能影响蛋白翻译",null,"磷酸羟基赖氨酸尿","AR",615011,3,3,1,1,"AGXT2L2",0.96,65,"非编码区",14100,"0.49=65/132",null,85007,"5q35.3","NM_153373.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1561",164,76,0.46,{"$nulls":3},"A有","12309A","AHCTF1","chr1:247048834","c.2648T>C(E21)","p.883,N>S","rs2642990",0.68,0.6,0.58,0.62,0.57,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"AHCTF1",1,270,"错义",12220,"0.47=130/274",null,25909,"1q44","NM_015446.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4890",8,8,1,{"$nulls":3},"A有","12309A","AHCY","chr20:32891200","m.16G>T(E1)","非编码区","rs819146",0.68,0.78,0.8,0.76,null,null,"纯合","无关","有rs号，MAF>=5%",null,"高蛋氨酸血症（S-腺苷高半胱氨酸水解酶缺乏）","AR",613752,5,1,1,1,"AHCY",1,61,"非编码区",14200,"1.00=21/21",null,191,"20q11.22","NM_000687.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v734",27,13,0.48,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"AHCYL2",0.84,160,"非编码区",14200,"0.48=15/31",null,23382,"7q32.1","NM_001130720.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24002",3,2,0.67,{"$nulls":3},"A有","12309A","AHDC1","chr1:27875824","c.2803C>T(E6)","p.935,A>T","rs4908364",1,1,1,1,0.84,1,"杂合","无关","有rs号，MAF>=5%",null,"XIA-GIBBS综合征","AD",615829,5,1,2,1,"AHDC1",0.85,7.6,"错义",12220,"0.67=2/3",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"]
["12309A(99)v24001",6,2,0.33,{"$nulls":3},"A有","12309A","AHDC1","chr1:27876482","c.2145C>A(E6)","p.715,P>P","rs2076457",0.79,0.81,0.8,0.83,0.66,0.79,"杂合","无关","有rs号，MAF>=5%",null,"XIA-GIBBS综合征","AD",615829,5,1,2,1,"AHDC1",0.85,7.6,"同义",13203,"0.31=4/13",null,27245,"1p36.13","NM_001029882.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v849",34,10,0.29,{"$nulls":3},"A有","12309A","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",1,290,"非编码区",14200,"0.29=10/35",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"]
["12309A(99)v848",229,113,0.49,{"$nulls":3},"A有","12309A","AHI1","chr6:135606755","m.3856C>G(E27)","非编码区","rs9494209",0.13,0.07,0.067,0.073,0.066,0.074,"杂合","无关","有rs号，MAF>=5%",null,"Joubert综合征3型","AR",608629,5,3,2,1,"AHI1",1,290,"非编码区",14200,"0.51=222/436",null,54806,"6q23.3","NM_001134830.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16931",36,14,0.39,{"$nulls":3},"A有","12309A","AHNAK","chr11:62285721","c.16168G>T(E5)","p.5390,P>T","rs77640901",0.011,0.087,0.086,0.087,0.071,0.047,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"AHNAK",1,210,"错义",12110,"0.31=15/48",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16930",166,82,0.49,{"$nulls":3},"A有","12309A","AHNAK","chr11:62290979","c.10910T>C(E5)","p.3637,N>S","rs117618959",0.011,0.084,0.081,0.087,0.067,0.046,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"AHNAK",1,210,"错义",12120,"0.49=128/263",null,79026,"11q12.2","NM_001620.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16928",78,39,0.5,{"$nulls":3},"A有","12309A","AHNAK","chr11:62291996","c.9893A>C(E5)","p.3298,I>S",{"$nulls":6},0.00023,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"AHNAK",1,210,"错义",12410,"0.48=63/132",null,79026,"11q12.2","NM_001620.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16929",134,133,0.99,{"$nulls":3},"A有","12309A","AHNAK","chr11:62292882","c.9007G>T(E5)","p.3003,Q>K","rs566144",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AHNAK",1,210,"错义",12220,"0.99=220/222",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"]
["12309A(99)v16933",154,75,0.49,{"$nulls":3},"A有","12309A","AHNAK","chr11:62293948","c.7941G>A(E5)","p.2647,S>S","rs486903",0.47,0.31,0.29,0.33,0.3,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"AHNAK",1,210,"同义",13203,"0.48=113/235",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"]
["12309A(99)v16932",57,31,0.54,{"$nulls":3},"A有","12309A","AHNAK","chr11:62298597","c.3292C>A(E5)","p.1098,V>F","rs79639272",0.012,0.089,0.09,0.087,0.072,0.048,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"AHNAK",1,210,"错义",12110,"0.53=40/76",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"]
["12309A(99)v7755",38,38,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105404384","m.17524T>C(E7)","非编码区","rs1048257",0.55,0.4,0.44,0.35,null,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"非编码区",14200,"1.00=57/57",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"]
["12309A(99)v7714",60,59,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105405599","c.16189G>C(E7)","p.5397,P>A","rs3742935",0.56,0.4,0.44,0.35,0.4,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12210,"0.97=95/98",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"]
["12309A(99)v7758",64,63,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105405942","c.15846G>A(E7)","p.5282,L>L","rs28454709",0.55,0.4,0.44,0.35,0.39,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"0.98=97/99",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"]
["12309A(99)v7752",57,57,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105406238","c.15550A>C(E7)","p.5184,Y>D","rs2819419",0.59,0.4,0.44,0.35,0.39,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=95/95",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"]
["12309A(99)v7774",26,26,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105407031","c.14757A>G(E7)","p.4919,S>S","rs11623422",0.55,0.4,0.44,0.35,0.38,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=35/35",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"]
["12309A(99)v7725",55,55,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105407208","c.14580T>C(E7)","p.4860,V>V","rs11851053",0.55,0.4,0.44,0.35,0.4,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"0.99=90/91",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"]
["12309A(99)v7765",53,53,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105407798","c.13990T>C(E7)","p.4664,T>A","rs4465542",0.56,0.4,0.44,0.35,0.4,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=84/84",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"]
["12309A(99)v7766",28,28,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105408030","c.13758A>G(E7)","p.4586,D>D","rs9671643",0.56,0.4,0.44,0.35,0.41,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=48/48",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"]
["12309A(99)v7759",36,36,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105408182","c.13606T>G(E7)","p.4536,M>L","rs9672139",0.53,0.38,0.42,0.33,0.38,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=54/54",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7730",52,52,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105408315","c.13473T>C(E7)","p.4491,P>P","rs28600075",0.56,0.4,0.44,0.35,0.42,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=70/70",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"]
["12309A(99)v7710",49,49,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105408811","c.12977A>G(E7)","p.4326,L>P","rs2819421",0.56,0.36,0.4,0.31,0.37,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=76/76",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7788",59,59,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105408827","c.12961A>C(E7)","p.4321,L>V","rs11850949",0.53,0.36,0.4,0.31,0.37,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=86/86",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"]
["12309A(99)v7787",64,27,0.42,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105408855","c.12933A>C(E7)","p.4311,S>S","rs371380674",3.8E-3,0,0,0,0.0057,0.0034,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13103,"0.43=40/92",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"]
["12309A(99)v7750",66,65,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105408955","c.12833A>G(E7)","p.4278,V>A","rs2819422",0.58,0.4,0.44,0.35,0.41,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.98=112/114",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"]
["12309A(99)v7731",50,22,0.44,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105409800","c.11988T>C(E7)","p.3996,P>P","rs373289625",0.0054,0,0,0,0.0046,0.01,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13103,"0.49=37/75",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7745",49,22,0.45,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105409806","c.11982G>A(E7)","p.3994,T>T","rs140129247",0.0056,0,0,0,0.0057,0.01,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13103,"0.51=40/78",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"]
["12309A(99)v7706",49,23,0.47,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105409808","c.11980T>A(E7)","p.3994,T>S","rs200747295",0.0054,0,0,0,0.0046,0.01,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12120,"0.53=41/77",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7763",65,65,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105409959","c.11829G>T(E7)","p.3943,A>A","rs10152073",0.55,0.4,0.44,0.35,0.41,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=112/112",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"]
["12309A(99)v7780",54,54,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105410183","c.11605T>C(E7)","p.3869,M>V","rs10438246",0.56,0.4,0.44,0.35,0.42,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.99=85/86",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"]
["12309A(99)v7732",88,63,0.72,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105410411","c.11377C>T(E7)","p.3793,D>N","rs11160825",0.55,0.39,0.44,0.34,0.39,0.39,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12210,"0.69=104/151",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"]
["12309A(99)v7777",41,41,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105410775","c.11013A>G(E7)","p.3671,D>D","rs2819424",0.59,0.4,0.44,0.35,0.41,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=65/65",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"]
["12309A(99)v7783",59,59,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105410827","c.10961C>T(E7)","p.3654,G>E","rs28380382",0.55,0.4,0.44,0.35,0.42,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12210,"0.99=98/99",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"]
["12309A(99)v7785",45,45,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105411700","c.10088A>G(E7)","p.3363,V>A","rs4264326",0.56,0.4,0.45,0.35,0.41,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=63/63",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7779",51,51,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105411781","c.10007G>A(E7)","p.3336,P>L","rs10438247",0.54,0.4,0.45,0.35,0.41,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12210,"1.00=67/67",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"]
["12309A(99)v7712",53,12,0.23,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105412066","c.9722C>T(E7)","p.3241,R>H","rs77154428",{"$nulls":4},0.3,0.34,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"0.27=24/88",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7786",46,46,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105412259","c.9529G>C(E7)","p.3177,L>V","rs2819426",0.43,0.36,0.39,0.32,0.35,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=73/73",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7749",47,47,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105412260","c.9528G>C(E7)","p.3176,D>E","rs11160826",{"$nulls":4},0.35,0.37,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"1.00=76/76",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7764",47,46,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105412541","c.9247C>T(E7)","p.3083,V>I","rs12433837",0.52,0.38,0.41,0.34,0.37,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.97=62/64",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7753",48,48,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105412542","c.9246A>G(E7)","p.3082,D>D","rs12433815",0.52,0.38,0.41,0.34,0.36,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=64/64",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7767",50,50,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105412554","c.9234T>G(E7)","p.3078,G>G","rs12436986",0.51,0.38,0.4,0.34,0.36,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=63/63",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7709",50,49,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105412561","c.9227C>T(E7)","p.3076,R>H","rs3000771",{"$nulls":4},0.36,0.39,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"0.98=61/62",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7740",55,54,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105413204","c.8584G>T(E7)","p.2862,R>S","rs2582514",0.57,0.38,0.41,0.34,0.4,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.99=84/85",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7734",51,50,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105413223","c.8565A>G(E7)","p.2855,D>D","rs55797226",0.53,0.42,0.44,0.39,0.44,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"0.99=79/80",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7727",45,20,0.44,{"$nulls":3},"A有","12309A","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,86,0,"AHNAK2",1,83,"错义",12420,"0.49=32/65",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"]
["12309A(99)v7702",40,40,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105414238","c.7550C>A(E7)","p.2517,G>V","rs60754080",0.48,0.31,0.34,0.29,0.35,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=55/55",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7742",48,46,0.96,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105414252","c.7536C>T(E7)","p.2512,K>K","rs60106058",0.45,0.31,0.33,0.28,0.34,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"0.96=66/69",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"]
["12309A(99)v7748",43,42,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105414280","c.7508T>G(E7)","p.2503,E>A","rs2819429",0.84,0.62,0.64,0.59,0.63,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12210,"0.97=69/71",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"]
["12309A(99)v7789",35,35,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105414629","c.7159G>A(E7)","p.2387,P>S","rs72702027",0.53,0.39,0.43,0.34,0.41,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12210,"1.00=48/48",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"]
["12309A(99)v7735",62,62,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105414790","c.6998A>G(E7)","p.2333,L>P","rs2582513",0.56,0.42,0.45,0.38,0.45,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=94/94",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"]
["12309A(99)v7773",69,69,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105414810","c.6978C>G(E7)","p.2326,L>L","rs10145032",0.53,0.42,0.45,0.38,0.45,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"0.99=113/114",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"]
["12309A(99)v7741",49,29,0.59,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105415422","c.6366G>A(E7)","p.2122,D>D","rs79003030",0.27,0.3,0.34,0.26,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"0.58=42/72",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"]
["12309A(99)v7768",54,26,0.48,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105415433","c.6355T>C(E7)","p.2119,M>V","rs199970974",{"$nulls":4},0.18,0.064,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"0.48=38/79",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7776",82,82,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105415469","c.6319T>C(E7)","p.2107,M>V","rs11846918",0.45,0.36,0.4,0.33,0.4,0.41,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=131/131",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7721",83,52,0.63,{"$nulls":3},"A有","12309A","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,86,0,"AHNAK2",1,83,"同义",13303,"0.65=90/139",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"]
["12309A(99)v7719",54,29,0.54,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105415577","c.6211G>A(E7)","p.2071,L>L","rs375265904",{"$nulls":4},0.16,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13303,"0.51=43/85",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7775",48,28,0.58,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105415587","c.6201G>A(E7)","p.2067,L>L",{"$nulls":5},0.13,0.099,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13403,"0.51=40/78",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"]
["12309A(99)v7751",27,10,0.37,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105415607","c.6181C>G(E7)","p.2061,V>L","rs112699389",null,0.0024,0,0.0049,0.079,0.017,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"0.32=12/38",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"]
["12309A(99)v7737",27,16,0.59,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105415608","c.6180G>C(E7)","p.2060,H>Q","rs11850848",0.36,0.32,0.35,0.3,0.32,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.61=23/38",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"]
["12309A(99)v7772",16,15,0.94,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105415659","c.6129G>A(E7)","p.2043,A>A","rs61271499",0.17,0.3,0.33,0.27,0.3,0.35,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"0.93=28/30",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"]
["12309A(99)v7705",29,29,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416010","c.5778T>C(E7)","p.1926,T>T","rs2582511",0.58,0.39,0.44,0.34,0.41,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"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"]
["12309A(99)v7720",27,26,0.96,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416087","c.5701C>T(E7)","p.1901,G>S","rs59117977",0.13,0.29,0.33,0.25,0.3,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.97=33/34",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"]
["12309A(99)v7784",46,45,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416220","c.5568T>A(E7)","p.1856,E>D","rs2819435",null,0.57,0.6,0.54,0.58,0.6,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"0.97=64/66",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"]
["12309A(99)v7703",50,30,0.6,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416230","c.5558A>G(E7)","p.1853,V>A","rs11851005",0.11,0.24,0.25,0.22,0.23,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.57=43/75",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7769",64,64,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416685","c.5103C>G(E7)","p.1701,L>L","rs2582506",0.0022,0.0024,0.0048,0,0.44,0.42,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13103,"1.00=102/102",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"]
["12309A(99)v7762",61,28,0.46,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416715","c.5073A>G(E7)","p.1691,D>D","rs202059234",0.028,0.024,0.029,0.019,null,0.02,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13103,"0.41=41/99",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"]
["12309A(99)v7729",65,30,0.46,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416731","c.5057G>A(E7)","p.1686,P>L","rs200117851",6.6E-3,0.014,0.0095,0.019,null,2E-3,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,86,0,"AHNAK2",1,83,"错义",12110,"0.41=44/107",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"]
["12309A(99)v7757",74,74,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416784","c.5004A>G(E7)","p.1668,F>F","rs59373922",0.26,0.33,0.37,0.29,0.34,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=111/111",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"]
["12309A(99)v7708",62,61,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416823","c.4965G>A(E7)","p.1655,D>D","rs2582504",0.16,0.26,0.28,0.25,0.29,0.27,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"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"]
["12309A(99)v7718",52,17,0.33,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416872","c.4916T>C(E7)","p.1639,Q>R","rs148787429",0.14,0.25,0.27,0.22,0.25,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.33=26/80",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"]
["12309A(99)v7711",52,34,0.65,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416875","c.4913G>A(E7)","p.1638,A>V","rs185154010",0.018,0.041,0.043,0.039,0.024,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12120,"0.63=52/82",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"]
["12309A(99)v7760",53,33,0.62,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416936","c.4852T>C(E7)","p.1618,K>E","rs540496124",0.0046,0.0024,0,0.0049,null,0.00094,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12120,"0.59=44/75",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7781",52,50,0.96,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416959","c.4829A>G(E7)","p.1610,V>A","rs2013462",0.57,0.33,0.37,0.3,0.36,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.97=72/74",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"]
["12309A(99)v7724",55,21,0.38,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105416971","c.4817T>G(E7)","p.1606,K>T","rs77454674",0.03,0.12,0.14,0.097,0.14,0.14,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,86,0,"AHNAK2",1,83,"错义",12110,"0.37=31/83",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"]
["12309A(99)v7717",43,43,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417102","c.4686T>C(E7)","p.1562,P>P","rs2248966",0.56,0.35,0.38,0.33,0.38,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=63/63",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7747",44,44,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417147","c.4641A>G(E7)","p.1547,S>S","rs2013445",0.43,0.33,0.36,0.3,0.36,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=62/62",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"]
["12309A(99)v7739",53,28,0.53,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417210","c.4578G>A(E7)","p.1526,D>D","rs148032399",0.014,0.0072,0,0.015,0.013,0.02,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13103,"0.50=45/90",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7726",76,37,0.49,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417270","c.4518A>C(E7)","p.1506,S>S","rs2819437",0.04,0.0096,0.019,0,0.024,0.014,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13103,"0.47=56/118",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"]
["12309A(99)v7728",33,33,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417765","c.4023A>C(E7)","p.1341,S>S","rs2894636",{"$nulls":4},0.3,0.3,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13303,"1.00=46/46",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7744",34,33,0.97,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417766","c.4022G>A(E7)","p.1341,S>F","rs2396457",0.31,0.28,0.29,0.28,0.3,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12210,"0.98=46/47",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7736",34,34,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417768","c.4020C>A(E7)","p.1340,V>V","rs2396458",0.016,0,0,0,0.3,0.29,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,86,0,"AHNAK2",1,83,"同义",13103,"1.00=47/47",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7723",36,36,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417774","c.4014G>A(E7)","p.1338,F>F","rs2013228",0.39,0.29,0.29,0.29,0.31,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=53/53",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7782",38,38,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417837","c.3951A>G(E7)","p.1317,A>A","rs76231332",0.26,0.28,0.3,0.27,0.31,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=63/63",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7716",39,39,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105417894","c.3894C>G(E7)","p.1298,M>I","rs2819440",0.78,0.59,0.6,0.57,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"1.00=68/68",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7733",78,51,0.65,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105418264","c.3524G>A(E7)","p.1175,A>V","rs55650155",0.38,0.32,0.37,0.28,0.29,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.69=79/115",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7746",60,60,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105418344","c.3444T>G(E7)","p.1148,E>D","rs55791176",1.8E-3,0,0,0,0.38,0.38,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12120,"0.99=97/98",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7771",56,49,0.88,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105418391","c.3397C>T(E7)","p.1133,V>I","rs11625007",{"$nulls":4},0.36,0.32,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"0.91=79/87",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"]
["12309A(99)v7743",34,24,0.71,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105418502","c.3286G>T(E7)","p.1096,L>I","rs201268922",0.13,0.22,0.2,0.23,0.25,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.69=34/49",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"]
["12309A(99)v7770",31,30,0.97,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105418504","c.3284G>T(E7)","p.1095,A>D","rs151013711",0.2,0.28,0.3,0.26,0.31,0.29,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.98=43/44",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7738",31,15,0.48,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105418521","c.3267G>C(E7)","p.1089,F>L","rs142241633",{"$nulls":4},0.21,0.056,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"0.47=18/38",null,113146,"14q32.33","NM_138420.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7754",28,10,0.36,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105418535","c.3253C>G(E7)","p.1085,E>Q","rs146664186",{"$nulls":4},0.16,0.17,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,86,0,"AHNAK2",1,83,"错义",12320,"0.38=14/37",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"]
["12309A(99)v7778",53,53,1,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105418638","c.3150A>G(E7)","p.1050,P>P","rs78353106",0.2,0.28,0.3,0.26,0.32,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"同义",13203,"1.00=92/92",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"]
["12309A(99)v7715",46,45,0.98,{"$nulls":3},"A有","12309A","AHNAK2","chr14:105419234","c.2554T>C(E7)","p.852,M>V","rs74090129",0.21,0.28,0.31,0.26,0.32,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,86,0,"AHNAK2",1,83,"错义",12220,"0.99=66/67",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"]
["12309A(99)v1559",55,55,1,{"$nulls":3},"A有","12309A","AIF1L","chr9:133987060","IVS4+10G>A","非编码区","rs353525",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AIF1L",0.79,91,"非编码区",16203,"1.00=95/95",null,83543,"9q34.13-q34.3","NM_001185095.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v548",29,15,0.52,{"$nulls":3},"A有","12309A","AIPL1","chr17:6330068","c.462T>C(E4)","p.154,P>P","rs2292546",0.71,0.66,0.67,0.65,0.6,0.67,"杂合","无关","有rs号，MAF>=5%",null,"Leber先天性黑蒙4型","AR",604393,5,3,3,2,"AIPL1",0.98,42,"同义",13203,"0.47=17/36",null,23746,"17p13.1","NM_001033054.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10791",29,11,0.38,{"$nulls":3},"A有","12309A","AKAP12","chr6:151670690","c.1164G>A(E4)","p.388,S>S","rs35341741",0.079,0.017,0.014,0.019,0.021,0.016,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"AKAP12",0.97,97,"同义",13203,"0.41=19/46",null,9590,"6q24-q25","NM_005100.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2562",98,98,1,{"$nulls":3},"A有","12309A","AKAP3","chr12:4735737","c.2331A>G(E4)","p.777,L>L","rs2072358",0.26,0.39,0.38,0.41,0.4,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"AKAP3",1,92,"同义",13203,"1.00=155/155",null,10566,"12p13.3","NM_006422.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12455",32,13,0.41,{"$nulls":3},"A有","12309A","AKD1","chr6:109814411","m.5974C>T(E41)","非编码区","rs1054607",0.32,0.48,0.49,0.47,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"AKD1",1,280,"非编码区",14200,"0.42=16/38",null,221264,"6q21","NM_001145128.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2158",74,39,0.53,{"$nulls":3},"A有","12309A","AKR1E2","chr10:4881935","c.597A>G(E6)","p.199,P>P","rs2290349",0.041,0.11,0.086,0.13,0.16,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"AKR1E2",0.96,170,"同义",13103,"0.49=60/122",null,83592,"10p15.1","NM_001040177.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7624",10,10,1,{"$nulls":3},"A有","12309A","ALDH3B1","chr11:67795378-67795379","c.1376(E10)至c.1377(E10):插入C","插入移码","rs11436139",1,1,1,1,0.11,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,6,0,"ALDH3B1",0.97,26,"插入移码",2120,"1.00=13/13",null,221,"11q13","NM_000694.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2050",141,78,0.55,{"$nulls":3},"A有","12309A","ALOX12","chr17:6913652","c.1902G>A(E14)","p.634,L>L","rs312462",0.12,0.12,0.13,0.11,0.16,0.15,"杂合","无关","有rs号，MAF>=5%","20061896;22668814;24686056",{"$nulls":3},5,null,2,0,"ALOX12",0.93,110,"同义",13203,"0.58=127/220",null,239,"17p13.1","NM_000697.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3981",59,37,0.63,{"$nulls":3},"A有","12309A","ALPK2","chr18:56204581","c.2838A>T(E5)","p.946,L>L","rs75334530",0.0054,0.024,0.014,0.034,0.029,0.015,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,30,0,"ALPK2",1,120,"同义",13103,"0.60=53/89",null,115701,"18q21.31","NM_052947.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3952",82,42,0.51,{"$nulls":3},"A有","12309A","ALPK2","chr18:56204945","c.2474C>G(E5)","p.825,R>T","rs3809972",0.4,0.21,0.19,0.22,0.22,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,30,0,"ALPK2",1,120,"错义",12220,"0.50=60/121",null,115701,"18q21.31","NM_052947.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26696",2,2,1,{"$nulls":3},"A有","12309A","ALS2CR8","chr2:203848724","m.2835G>A(E16)","非编码区","rs62183749",0.39,0.27,0.31,0.23,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ALS2CR8",1,350,"非编码区",14200,"1.00=2/2",null,79800,"2q33.2","NM_001104586.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1978",5,2,0.4,{"$nulls":3},"A有","12309A","AMPH","chr7:38424039","m.2684A>G(E21)","非编码区","rs2072505",0.19,0.17,0.14,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AMPH",1,210,"非编码区",14200,"0.33=2/6",null,273,"7p14-p13","NM_001635.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20388",7,4,0.57,{"$nulls":3},"A有","12309A","ANGPTL3","chr1:63070770","m.1716T>A(E7)","非编码区","rs184745503",0.003,0.022,0.033,0.0097,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"家族性β脂蛋白缺乏症2型","AR",605019,3,3,2,1,"ANGPTL3",1,310,"非编码区",14100,"0.57=4/7",null,27329,"1p31.3","NM_014495.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26728",21,21,1,{"$nulls":3},"A有","12309A","ANKLE1","chr19:17395055","c.1356C>G(E6)","p.452,T>T","rs11882562",0.64,0.3,0.29,0.31,0.34,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ANKLE1",0.94,30,"同义",13203,"1.00=31/31",null,126549,"19p13.11","NM_152363.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19618",106,106,1,{"$nulls":3},"A有","12309A","ANKRD18A","chr9:38595886","c.1451T>C(E9)","p.484,N>S","rs2996347",0.33,0.4,0.39,0.41,0.4,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ANKRD18A",1,200,"错义",12210,"1.00=166/166",null,253650,"9p13.1","NM_147195.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23402",61,61,1,{"$nulls":3},"A有","12309A","ANKRD27","chr19:33096816","c.2418C>T(E24)","p.806,K>K","rs7248273",0.18,0.24,0.26,0.22,0.27,0.23,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ANKRD27",1,150,"同义",13203,"1.00=118/118",null,84079,"19q13.11","NM_032139.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29538",102,102,1,{"$nulls":3},"A有","12309A","ANKRD31","chr5:74443132","c.2104C>T(E14)","p.702,D>N","rs1422698",0.59,0.48,0.45,0.51,0.43,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ANKRD31",1,210,"错义",12220,"1.00=156/156",null,256006,"5q13.3","NM_001164443.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v365",112,110,0.98,{"$nulls":3},"A有","12309A","ANKRD6","chr6:90338863","c.1518C>T(E15)","p.506,C>C","rs9353687",0.17,0.25,0.24,0.27,0.24,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ANKRD6",1,120,"同义",13203,"0.99=199/201",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"]
["12309A(99)v13237",45,44,0.98,{"$nulls":3},"A有","12309A","ANO1","chr11:70007392","c.1704A>G(E17)","p.568,A>A","rs2276067",0.66,0.75,0.77,0.73,0.73,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ANO1",1,97,"同义",13203,"0.99=72/73",null,55107,"11q13.3","NM_018043.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21986",193,88,0.46,{"$nulls":3},"A有","12309A","ANP32C","chr4:165118253","c.611T>C(E1)","p.204,E>G","rs2288676",0.12,0.19,0.21,0.17,0.22,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ANP32C",1,290,"错义",12210,"0.44=135/308",null,23520,"4q32.3","NM_012403.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27348",184,58,0.32,{"$nulls":3},"A有","12309A","ANXA7","chr10:75147544-75147545","IVS6-3至IVS6-4:插入GAA","非编码区","rs375052328",0.18,0.33,0.32,0.33,0.06,0.31,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"ANXA7",1,250,"非编码区",2500,"0.33=68/206",null,310,"10q22.2","NM_001156.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30615",14,11,0.79,{"$nulls":3},"A有","12309A","AP3S1","chr5:115177621","m.3T>G(E1)","非编码区","rs62371472",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"AP3S1",1,280,"非编码区",14300,"0.93=38/41",null,1176,"5q22","NM_001284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27357",175,175,1,{"$nulls":3},"A有","12309A","APC","chr5:112162854","c.1458T>C(E12)","p.486,Y>Y","rs2229992",0.51,0.68,0.68,0.67,0.67,0.68,"纯合","无关","有rs号，MAF>=5%","15768050;16569251;17221838;17267408;18708403;18849522;20333795;21279955","胃癌",null,613659,5,1,7,5,"APC",0.98,180,"同义",13203,"1.00=304/305",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"]
["12309A(99)v15338",24,24,1,{"$nulls":3},"A有","12309A","APOA1BP","chr1:156563992","m.1022C>G(E6)","非编码区","rs1271",0.93,0.96,0.99,0.94,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"APOA1BP",1,100,"非编码区",14200,"1.00=31/31",null,128240,"1q21","NM_144772.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12894",171,170,0.99,{"$nulls":3},"A有","12309A","APOB","chr2:21232803","c.6937T>C(E26)","p.2313,I>V","rs584542",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性B型高胆固醇血症","AD",144010,5,1,5,2,"APOB",1,140,"错义",12230,"1.00=274/275",null,338,"2p24-p23","NM_000384.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30314",20,13,0.65,{"$nulls":3},"A有","12309A","APOBEC3H","chr22:39499902","m.876C>T(E5)","非编码区","rs139317",0.53,0.33,0.31,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"APOBEC3H",1,85,"非编码区",14200,"0.67=16/24",null,164668,"22q13.1","NM_001166002.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31728",57,20,0.35,{"$nulls":3},"A有","12309A","AQP7","chr9:33395108","c.112G>A(E3)","p.38,L>L","rs2381003",{"$nulls":4},0.28,0.4,"杂合","未知","预测范围之外的同义突变",null,"甘油数量症状位点","AR",614411,4,3,5,1,"AQP7",1,71,"同义",13303,"0.32=29/91",null,364,"9p13","NM_001170.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21001",54,27,0.5,{"$nulls":3},"A有","12309A","AQPEP","chr5:115339086","IVS12+9A>G","非编码区","rs6594929",0.81,0.78,0.81,0.74,null,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"AQPEP",0.96,220,"非编码区",16203,"0.56=41/73",null,206338,"5q23.1","NM_173800.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28686",182,99,0.54,{"$nulls":3},"A有","12309A","ARHGAP28","chr18:6851058","c.92C>G(E3)","p.31,T>S","rs6506448",0.081,0.26,0.3,0.22,0.28,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ARHGAP28",1,290,"错义",12220,"0.53=162/307",null,79822,"18p11.31","NM_001010000.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29827",38,38,1,{"$nulls":3},"A有","12309A","ARHGAP31","chr3:119133183","c.2407G>A(E12)","p.803,G>S","rs3732413",0.85,0.87,0.88,0.85,0.82,0.87,"纯合","无关","有rs号，MAF>=5%",null,"Adams-Oliver 综合征1型","AD",100300,5,1,7,1,"ARHGAP31",1,100,"错义",12220,"1.00=58/58",null,57514,"3q13.33","NM_020754.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24862",15,15,1,{"$nulls":3},"A有","12309A","ARHGEF16","chr1:3383898","c.801A>G(E4)","p.267,P>P","rs6424078",0.86,0.78,0.76,0.81,0.77,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ARHGEF16",0.99,24,"同义",13203,"1.00=20/20",null,27237,"1p36.3","NM_014448.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21267",49,49,1,{"$nulls":3},"A有","12309A","ARHGEF3","chr3:56763328","c.1647T>C(E13)","p.549,G>G","rs1565377",0.73,0.85,0.88,0.82,0.8,0.84,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ARHGEF3",1,180,"同义",13203,"1.00=76/76",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"]
["12309A(99)v15902",80,80,1,{"$nulls":3},"A有","12309A","ARL13A","chrX:100245606","m.1097A>G(E9)","非编码区","rs6523438",null,0.95,0.94,0.96,0.92,0.94,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ARL13A",1,130,"非编码区",14300,"1.00=128/128",null,392509,"Xq22.1","NM_001012990.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27332",10,5,0.5,{"$nulls":3},"A有","12309A","ARMC5","chr16:31476458","c.2114C>T(E4)","p.705,A>V","rs11150624",0.3,0.47,0.46,0.49,0.43,0.45,"杂合","无关","有rs号，MAF>=5%",null,"促肾上腺皮质激素非依赖性大结节样肾上腺增生2型","AD",615954,5,1,1,1,"ARMC5",0.86,13,"错义",12220,"0.46=6/13",null,79798,"16p11.2","NM_024742.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1585",52,15,0.29,{"$nulls":3},"A有","12309A","ARSA","chr22:51064039","c.1178G>C(E7)","p.393,T>S","rs743616",0.41,0.3,0.25,0.34,0.32,0.3,"杂合","无关","有rs号，MAF>=5%",18454203,"异染性脑白质营养不良","AR",250100,5,3,2,1,"ARSA",0.99,18,"错义",12220,"0.24=20/82",null,410,"22q13.33","NM_000487.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25639",31,16,0.52,{"$nulls":3},"A有","12309A","ASB1","chr2:239355213","m.1155C>T(E5)","非编码区","rs2278769",0.084,0.048,0.076,0.019,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ASB1",0.95,73,"非编码区",14200,"0.47=22/47",null,51665,"2q37","NM_001040445.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28340",16,8,0.5,{"$nulls":3},"A有","12309A","ASF1B","chr19:14231256","m.796T>C(E4)","非编码区","rs3745463",0.12,0.17,0.17,0.17,null,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ASF1B",1,77,"非编码区",14200,"0.42=8/19",null,55723,"19p13.12","NM_018154.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2290",157,76,0.48,{"$nulls":3},"A有","12309A","ASIC5","chr4:156784766","c.181G>A(E2)","p.61,R>C",{"$nulls":6},0.00023,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"ASIC5",1,310,"错义",12410,"0.47=116/245",null,51802,"4q31.3-q32","NM_017419.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18084",4,4,1,{"$nulls":3},"A有","12309A","ASPN","chr9:95219248","m.1532A>G(E6)","非编码区","rs3174352",0.45,0.81,0.84,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",null,"易感型骨关节炎3","AD",607850,5,1,2,2,"ASPN",1,290,"非编码区",14200,"1.00=4/4",null,54829,"9q22","NM_001193335.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19441",39,17,0.44,{"$nulls":3},"A有","12309A","ASTN1","chr1:176863836","c.2802G>C(E17)","p.934,H>Q","rs2281180",0.83,0.83,0.85,0.81,0.79,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ASTN1",1,120,"错义",12220,"0.41=21/51",null,460,"1q25.2","NM_004319.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31364",124,124,1,{"$nulls":3},"A有","12309A","ATE1","chr10:123596254","c.1236T>C(E10)","p.412,S>S","rs4237536",0.89,0.91,0.91,0.91,0.91,0.93,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ATE1",1,240,"同义",13203,"1.00=197/197",null,11101,"10q26.13","NM_001001976.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8398",120,56,0.47,{"$nulls":3},"A有","12309A","ATG2B","chr14:96777468","c.4147G>C(E28)","p.1383,Q>E","rs3759601",0.25,0.22,0.2,0.23,0.23,0.2,"杂合","无关","有rs号，MAF>=5%",24739953,{"$nulls":3},5,null,6,0,"ATG2B",1,260,"错义",12220,"0.47=96/205",null,55102,"14q32.2","NM_018036.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15780",78,78,1,{"$nulls":3},"A有","12309A","ATP10B","chr5:160097632","c.513G>A(E7)","p.171,R>R","rs958911",0.88,0.88,0.88,0.88,0.9,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ATP10B",1,130,"同义",13203,"1.00=121/121",null,23120,"5q34","NM_025153.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20802",101,99,0.98,{"$nulls":3},"A有","12309A","ATP13A4","chr3:193183817","c.1269A>G(E11)","p.423,S>S","rs3796181",0.55,0.53,0.57,0.48,0.45,0.51,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ATP13A4",1,250,"同义",13203,"0.99=155/157",null,84239,"3q29","NM_032279.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25811",18,10,0.56,{"$nulls":3},"A有","12309A","ATP2A3","chr17:3845927","c.1518A>G(E12)","p.506,T>T","rs17846889",0.38,0.077,0.076,0.078,0.079,0.084,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ATP2A3",0.87,25,"同义",13203,"0.60=18/30",null,489,"17p13.3","NM_005173.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18563",16,16,1,{"$nulls":3},"A有","12309A","ATP5G3","chr2:176043618","m.661C>T(E4)","非编码区","rs268223",0.8,0.85,0.84,0.86,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ATP5G3",1,240,"非编码区",14200,"1.00=17/17",null,518,"2q31.1","NM_001190329.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6304",118,71,0.6,{"$nulls":3},"A有","12309A","ATP6V1B2","chr8:20069273-20069274","IVS7+9至IVS7+10:插入AGTT","非编码区","rs142952762",0.22,0.14,0.14,0.14,0.04,0.15,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"ATP6V1B2",1,250,"非编码区",2500,"0.60=78/130",null,526,"8p21.3","NM_001693.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15807",108,108,1,{"$nulls":3},"A有","12309A","ATP8B1","chr18:55364852","c.696A>G(E8)","p.232,D>D","rs319438",0.99,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",null,"良性复发性肝内胆汁淤积1型","AR",243300,5,1,3,3,"ATP8B1",1,250,"剪切位点",13202,"0.99=164/165",null,5205,"18q21.31","NM_005603.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16718",135,73,0.54,{"$nulls":3},"A有","12309A","ATR","chr3:142281612","c.632A>G(E4)","p.211,M>T","rs2227928",0.6,0.5,0.46,0.54,0.46,0.47,"杂合","无关","有rs号，MAF>=5%","17010193;18191955;18551366","家族性皮肤毛细血管扩张症和癌综合征","AD",614564,5,1,7,2,"ATR",1,270,"错义",12220,"0.55=122/221",null,545,"3q23","NM_001184.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28893",80,79,0.99,{"$nulls":3},"A有","12309A","AVIL","chr12:58204283","c.610T>C(E6)","p.204,K>E","rs2172521",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"AVIL",1,130,"错义",12220,"0.99=131/132",null,10677,"12q14.1","NM_006576.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3269",194,194,1,{"$nulls":3},"A有","12309A","B3GNTL1","chr17:81006387","c.237G>A(E3)","p.79,H>H","rs1143006",0.29,0.42,0.43,0.4,0.42,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"B3GNTL1",0.94,140,"同义",13203,"1.00=416/418",null,146712,"17q25.3","NM_001009905.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11944",18,8,0.44,{"$nulls":3},"A有","12309A","BACH2","chr6:90660319","c.1506T>C(E5)","p.502,V>V","rs9451298",0.31,0.28,0.26,0.3,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"BACH2",1,68,"同义",13203,"0.43=10/23",null,60468,"6q15","NM_001170794.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25352",40,40,1,{"$nulls":3},"A有","12309A","BAG3","chr10:121436362","c.1296A>G(E4)","p.432,V>V","rs196295",0.71,0.5,0.48,0.52,0.51,0.52,"纯合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1HH型","AD",613881,5,1,3,2,"BAG3",1,64,"同义",13203,"1.00=66/66",null,9531,"10q25.2-q26.2","NM_004281.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v199",144,144,1,{"$nulls":3},"A有","12309A","BANK1","chr4:102965043","c.1858T>C(E11)","p.620,C>R","rs3113676",1,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",19339986,"系统性红斑狼疮","AD",152700,5,1,3,1,"BANK1",0.97,270,"错义",12230,"1.00=255/255",null,55024,"4q24","NM_001083907.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8729",4,2,0.5,{"$nulls":3},"A有","12309A","BCAM","chr19:45315539","c.324G>A(E3)","p.108,G>G","rs3745159",0.055,0.11,0.1,0.12,0.1,0.12,"杂合","无关","有rs号，MAF>=5%",null,"血型--LUTHERAN 系统; ",null,111200,5,2,1,2,"BCAM",0.86,36,"同义",13203,"0.60=3/5",null,4059,"19q13.2","NM_001013257.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16561",26,14,0.54,{"$nulls":3},"A有","12309A","BCL2","chr18:60985879","c.21T>C(E2)","p.7,T>T","rs1801018",0.24,0.091,0.09,0.092,0.081,0.099,"杂合","无关","有rs号，MAF>=5%","17267408;19141860;19276283;19384415;19520430;20504155;20610805;22568453;24321200",{"$nulls":3},5,null,1,0,"BCL2",1,71,"同义",13203,"0.54=22/41",null,596,"18q21.3","NM_000633.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20639",66,27,0.41,{"$nulls":3},"A有","12309A","BCL9","chr1:147091972","c.2011C>T(E8)","p.671,P>S","rs3820129",0.18,0.082,0.086,0.078,0.082,0.086,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"BCL9",1,100,"错义",12210,"0.40=42/106",null,607,"1q21","NM_004326.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12690",69,69,1,{"$nulls":3},"A有","12309A","BDNF","chr11:27679662","c.450T>C(E2)","p.150,A>A","rs2353512",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性中枢性肺换气不足综合征","AD",209880,5,1,2,4,"BDNF",1,120,"同义",13203,"1.00=115/115",null,627,"11p13","NM_001143805.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28935",99,99,1,{"$nulls":3},"A有","12309A","BEST1","chr11:61730234","c.1428T>C(E9)","p.476,T>T","rs1800009",0.59,0.85,0.85,0.85,0.85,0.86,"纯合","无关","有rs号，MAF>=5%",null,"视网膜脉络膜病变","AD",193220,5,1,3,4,"BEST1",1,110,"同义",13203,"0.99=171/172",null,7439,"11q13","NM_001139443.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19196",7,7,1,{"$nulls":3},"A有","12309A","BICD2","chr9:95475937","m.4124G>A(E7)","非编码区","rs3739605",0.31,0.76,0.77,0.76,null,null,"纯合","无关","有rs号，MAF>=5%",null,"脊肌萎缩症","AD",615290,5,1,1,1,"BICD2",0.96,26,"非编码区",14200,"1.00=8/8",null,23299,"9q22.31","NM_001003800.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13263",233,108,0.46,{"$nulls":3},"A有","12309A","BLM","chr15:91337479","c.3102G>A(E16)","p.1034,T>T","rs2227933",0.15,0.18,0.18,0.17,0.18,0.17,"杂合","无关","有rs号，MAF>=5%",null,"侏儒-面部毛细血管扩张综合征（布卢姆综合征）","AR",210900,5,3,4,1,"BLM",1,240,"同义",13203,"0.46=180/394",null,641,"15q26.1","NM_000057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25517",66,64,0.97,{"$nulls":3},"A有","12309A","BMS1","chr10:43312807","c.2445C>T(E15)","p.815,P>P","rs11239786",0.21,0.42,0.44,0.4,0.34,0.45,"纯合","无关","有rs号，MAF>=5%",null,"先天性皮肤发育不全，非综合症型","AD,AR",107600,5,1,3,1,"BMS1",0.96,140,"同义",13203,"0.96=101/105",null,9790,"10q11.21","NM_014753.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9765",93,93,1,{"$nulls":3},"A有","12309A","BPIFB6","chr20:31627291","c.1039A>G(E10)","p.347,S>G","rs4911287",0.61,0.73,0.75,0.71,0.78,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BPIFB6",1,96,"错义",12220,"1.00=153/153",null,128859,"20q11.21","NM_174897.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18249",90,89,0.99,{"$nulls":3},"A有","12309A","BRCA2","chr13:32913055","c.4563A>G(E11)","p.1521,L>L","rs206075",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"乳腺癌，浸润性导管","AD",114480,5,1,7,8,"BRCA2",1,200,"同义",13203,"0.99=144/145",null,675,"13q12.3","NM_000059.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18245",133,132,0.99,{"$nulls":3},"A有","12309A","BRCA2","chr13:32929387","c.7397T>C(E14)","p.2466,V>A","rs169547",0.98,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"范可尼贫血,互补D1组",null,605724,5,1,7,8,"BRCA2",1,200,"错义",12230,"0.99=191/193",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"]
["12309A(99)v28146",40,40,1,{"$nulls":3},"A有","12309A","BRMS1","chr11:66107674","c.546A>G(E7)","p.182,D>D","rs1784035",0.97,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"BRMS1",1,37,"同义",13203,"1.00=63/63",null,25855,"11q13-q13.2","NM_001024957.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v952",3,3,1,{"$nulls":3},"A有","12309A","BTK","chrX:100604681","m.2365C>T(E19)","非编码区","rs1057403",null,0.43,0.45,0.41,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"单一性生长激素缺乏症3型","XR",307200,3,1,2,2,"BTK",1,120,"非编码区",14300,"1.00=4/4",null,695,"Xq21.33-q22","NM_000061.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9070",182,182,1,{"$nulls":3},"A有","12309A","C10orf107","chr10:63520698","c.489T>C(E6)","p.163,F>F","rs1992625",0.87,0.92,0.93,0.9,0.9,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C10orf107",1,320,"同义",13203,"1.00=323/323",null,219621,"10q21.2","NM_173554.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23633",108,108,1,{"$nulls":3},"A有","12309A","C10orf54","chr10:73520632","c.561A>C(E3)","p.187,D>E","rs3747869",0.89,0.81,0.82,0.8,0.78,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C10orf54",1,51,"错义",12220,"1.00=183/183",null,64115,"10q22.1","NM_022153.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28524",24,24,1,{"$nulls":3},"A有","12309A","C11orf58","chr11:16760244","m.97T>G(E1)","非编码区","rs1846936",0.86,0.9,0.9,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C11orf58",1,210,"非编码区",14200,"1.00=37/37",null,10944,"11p15.1","NM_014267.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25060",62,38,0.61,{"$nulls":3},"A有","12309A","C12orf65","chr12:123741706","m.808C>A(E3)","非编码区","rs11554169",0.093,0.31,0.25,0.36,null,null,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷7型","AR",613559,5,3,3,2,"C12orf65",1,210,"非编码区",14200,"0.58=40/69",null,91574,"12q24.31","NM_001143905.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18582",29,12,0.41,{"$nulls":3},"A有","12309A","C14orf37","chr14:58471289","m.2601A>G(E8)","非编码区","rs2256270",0.38,0.57,0.57,0.57,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C14orf37",1,140,"非编码区",14200,"0.43=15/35",null,145407,"14q23.1","NM_001001872.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2771",21,21,1,{"$nulls":3},"A有","12309A","C15orf39","chr15:75499602","c.1213C>A(E2)","p.405,R>R","rs12591506",0.87,0.8,0.82,0.77,0.75,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C15orf39",0.97,23,"同义",13203,"1.00=31/31",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"]
["12309A(99)v933",32,14,0.44,{"$nulls":3},"A有","12309A","C16orf71","chr16:4790325","c.448G>A(E4)","p.150,D>N","rs190713831",2.8E-3,0.0024,0.0048,0,0.0069,0.012,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"C16orf71",1,51,"错义",12120,"0.41=20/49",null,146562,"16p13.3","NM_139170.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20020",14,14,1,{"$nulls":3},"A有","12309A","C17orf70","chr17:79511135","c.2322A>G(E7)","p.774,T>T","rs8077430",0.7,0.78,0.8,0.77,0.66,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"C17orf70",0.86,10,"同义",13203,"1.00=24/24",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"]
["12309A(99)v20209",2,2,1,{"$nulls":3},"A有","12309A","C18orf8","chr18:21083554","m.93G>A(E1)","非编码区","rs118114626",0.09,0.33,0.33,0.33,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"C18orf8",1,210,"非编码区",14200,"1.00=4/4",null,29919,"18q11.2","NM_013326.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12991",16,9,0.56,{"$nulls":3},"A有","12309A","C19orf45","chr19:7571030","c.1186T>A(E7)","p.396,Y>N","rs3826736",0.4,0.29,0.27,0.32,0.23,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C19orf45",0.62,33,"错义",12220,"0.56=14/25",null,374877,"19p13.2","NM_198534.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29357",35,34,0.97,{"$nulls":3},"A有","12309A","C1QTNF9","chr13:24895240","c.336G>A(E4)","p.112,K>K","rs200205073",0.43,0.53,0.54,0.51,0.54,0.022,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"C1QTNF9",1,200,"同义",13203,"0.97=37/38",null,338872,"13q12.12","NM_178540.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26017",104,104,1,{"$nulls":3},"A有","12309A","C1orf114","chr1:169366516","c.1326G>A(E5)","p.442,F>F","rs2272801",0.2,0.67,0.63,0.71,0.71,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C1orf114",1,220,"同义",13203,"0.99=171/172",null,57821,"1q24","NM_021179.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9339",40,20,0.5,{"$nulls":3},"A有","12309A","C1orf198","chr1:230975454","m.1230A>G(E6)","非编码区","rs1202550",0.76,0.92,0.91,0.93,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C1orf198",1,54,"非编码区",14200,"0.47=22/47",null,84886,"1q42.2","NM_001136494.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3282",26,17,0.65,{"$nulls":3},"A有","12309A","C20orf194","chr20:3233091","m.3766C>A(E37)","非编码区","rs6037515",0.24,0.18,0.19,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"C20orf194",0.98,210,"非编码区",14200,"0.70=21/30",null,25943,"20p13","NM_001009984.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20988",3,2,0.67,{"$nulls":3},"A有","12309A","C22orf25","chr22:20052442","m.1266A>G(E9)","非编码区","rs3804044",0.2,0.47,0.46,0.48,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C22orf25",1,56,"非编码区",14200,"0.67=2/3",null,128989,"22q11.21","NM_152906.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6665",33,17,0.52,{"$nulls":3},"A有","12309A","C2orf71","chr2:29294629","c.2499C>T(E1)","p.833,P>P","rs34253433",0.12,0.18,0.15,0.21,0.19,0.17,"杂合","无关","有rs号，MAF>=5%",null,"视网膜色素变性54型-AR",null,613428,5,2,9,1,"C2orf71",0.97,50,"同义",13203,"0.53=26/49",null,388939,"2p23.2","NM_001029883.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8623",54,53,0.98,{"$nulls":3},"A有","12309A","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,"补体成分3缺乏症","AR",613779,5,1,8,3,"C3",1,76,"同义",13203,"0.99=73/74",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"]
["12309A(99)v24581",2,2,1,{"$nulls":3},"A有","12309A","C3orf52","chr3:111836040","m.1021C>T(E4)","非编码区","rs729641",0.54,0.75,0.78,0.72,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"C3orf52",1,170,"非编码区",14200,"1.00=3/3",null,79669,"3q13.2","NM_001171747.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10160",138,138,1,{"$nulls":3},"A有","12309A","C4orf45","chr4:159894305","c.223T>C(E2)","p.75,S>G","rs662473",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"C4orf45",1,260,"错义",12220,"1.00=229/229",null,152940,"4q32.1","NM_152543.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27240",13,7,0.54,{"$nulls":3},"A有","12309A","C5orf22","chr5:31532429","m.57A>T(E1)","非编码区","rs2291109",0.94,0.8,0.81,0.79,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C5orf22",1,250,"非编码区",14200,"0.67=14/21",null,55322,"5p13.3","NM_018356.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20580",61,29,0.48,{"$nulls":3},"A有","12309A","C6orf203","chr6:107351293","m.660G>T(E2)","非编码区","rs9486499",0.19,0.34,0.37,0.31,0.33,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C6orf203",1,210,"非编码区",14200,"0.46=51/110",null,51250,"6q21","NM_001142470.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v921",104,45,0.43,{"$nulls":3},"A有","12309A","C7orf60","chr7:112462282","c.735G>A(E5)","p.245,L>L",{"$nulls":6},0.0027,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"C7orf60",1,210,"同义",13403,"0.37=64/173",null,154743,"7q31.1","NM_152556.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16542",139,61,0.44,{"$nulls":3},"A有","12309A","C8orf44-SGK3","chr8:67748231","c.663G>A(E12)","p.221,P>P","rs35809374",0.15,0.019,0.019,0.019,0.026,0.028,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C8orf44-SGK3",1,300,"同义",13203,"0.46=100/219",null,100533105,"-","NM_001204173.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2",42,42,1,{"$nulls":3},"A有","12309A","C9orf152","chr9:112963504","c.444A>G(E2)","p.148,D>D","rs10120707",0.97,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"C9orf152",1,61,"同义",13203,"0.98=53/54",null,401546,"9q31.3","NM_001012993.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3129",102,48,0.47,{"$nulls":3},"A有","12309A","CABYR","chr18:21735686","c.221C>T(E4)","p.74,T>M","rs3786417",0.025,0.087,0.1,0.073,0.11,0.12,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"CABYR",1,150,"错义",12120,"0.45=81/181",null,26256,"18q11.2","NM_012189.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1968",58,24,0.41,{"$nulls":3},"A有","12309A","CACNA1C","chr12:2694638","c.2436C>T(E17)","p.812,D>D","rs215976",0.15,0.31,0.29,0.32,0.27,0.34,"杂合","无关","有rs号，MAF>=5%","16642433;20031608","先天性长Q-T间期综合征8型/蒂莫西综合症","AD",601005,5,1,7,2,"CACNA1C",1,92,"同义",13203,"0.43=40/92",null,775,"12p13.3","NM_000719.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6835",47,47,1,{"$nulls":3},"A有","12309A","CACNA1S","chr1:201020105","IVS33+7A>G","非编码区","rs6702590",0.88,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%",null,"低血钾性周期性麻痹1型","AD",170400,5,1,6,3,"CACNA1S",1,78,"非编码区",16203,"1.00=73/73",null,779,"1q32","NM_000069.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13301",170,170,1,{"$nulls":3},"A有","12309A","CADPS","chr3:62556622","IVS8-9A>G","剪切位点","rs833663",0.9,0.97,0.98,0.97,0.97,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CADPS",1,190,"剪切位点",16202,"1.00=295/296",null,8618,"3p14.2","NM_003716.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23795",19,7,0.37,{"$nulls":3},"A有","12309A","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",{"$nulls":4},2,null,2,0,"CALML6",1,46,"错义",12110,"0.41=12/29",null,163688,"1p36.33","NM_138705.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12834",158,75,0.47,{"$nulls":3},"A有","12309A","CAMK2D","chr4:114582860","IVS3+9C>T","非编码区","rs3775975",0.091,0.27,0.3,0.24,0.21,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CAMK2D",1,290,"非编码区",16203,"0.47=140/296",null,817,"4q26","NM_001221.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18521",92,45,0.49,{"$nulls":3},"A有","12309A","CAPN2","chr1:223954080","c.1468A>C(E16)","p.490,K>Q","rs17599",0.21,0.23,0.28,0.19,0.18,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CAPN2",1,110,"错义",12210,"0.47=88/187",null,824,"1q41-q42","NM_001146068.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16630",136,72,0.53,{"$nulls":3},"A有","12309A","CARD8","chr19:48722180","c.1251C>T(E9)","p.417,E>E","rs10500299",0.26,0.17,0.14,0.2,0.18,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CARD8",0.84,130,"同义",13203,"0.52=127/242",null,22900,"19q13.33","NM_001184900.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28547",99,54,0.55,{"$nulls":3},"A有","12309A","CASD1","chr7:94173803","c.1437T>C(E11)","p.479,F>F","rs13242090",0.12,0.25,0.25,0.25,0.3,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CASD1",1,280,"同义",13203,"0.50=75/150",null,64921,"7q21.3","NM_022900.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7653",67,67,1,{"$nulls":3},"A有","12309A","CASQ2","chr1:116311198","m.229T>C(E1)","非编码区","rs4074537",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"儿茶酚胺敏感多形性室速2型","AR",611938,5,1,5,1,"CASQ2",1,180,"非编码区",14200,"1.00=99/99",null,845,"1p13.1","NM_001232.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17109",26,26,1,{"$nulls":3},"A有","12309A","CATSPER1","chr11:65793454","c.397C>T(E1)","p.133,G>S","rs1203998",0.34,0.41,0.38,0.44,0.39,0.43,"纯合","无关","有rs号，MAF>=5%",null,"精子生成障碍7/非综合症型男性不育症",null,612997,5,1,4,1,"CATSPER1",1,60,"错义",12220,"1.00=29/29",null,117144,"11q12.1","NM_053054.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v525",6,6,1,{"$nulls":3},"A有","12309A","CBLL1","chr7:107384455","m.177A>G(E1)","非编码区","rs756871",0.87,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CBLL1",1,230,"非编码区",14200,"1.00=7/7",null,79872,"7q22.3","NM_024814.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6249",153,84,0.55,{"$nulls":3},"A有","12309A","CC2D2A","chr4:15569018","c.3201G>A(E26)","p.1067,S>S","rs73125627",0.15,0.082,0.062,0.1,0.079,0.083,"杂合","无关","有rs号，MAF>=5%",null,"Meckel综合征6型",null,612284,5,2,4,3,"CC2D2A",0.98,250,"同义",13203,"0.57=146/258",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"]
["12309A(99)v4182",115,115,1,{"$nulls":3},"A有","12309A","CCDC110","chr4:186379371","c.2259G>A(E5)","p.753,Y>Y","rs7687202",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC110",1,180,"同义",13203,"1.00=208/209",null,256309,"4q35.1","NM_001145411.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12022",108,108,1,{"$nulls":3},"A有","12309A","CCDC148","chr2:159166069","c.728T>C(E7)","p.243,K>R","rs7559772",0.96,1,1,1,1,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CCDC148",0.97,260,"错义",12220,"1.00=204/204",null,130940,"2q24.1","NM_001171637.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23096",10,4,0.4,{"$nulls":3},"A有","12309A","CCDC15","chr11:124910797","m.3305T>C(E16)","非编码区","rs11219874",0.19,0.42,0.47,0.37,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"CCDC15",1,270,"非编码区",14200,"0.45=5/11",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"]
["12309A(99)v3044",89,34,0.38,{"$nulls":3},"A有","12309A","CCDC168","chr13:103384824","c.18223G>A(E4)","p.6075,R>C","rs9300756",0.59,0.82,0.82,0.83,0.79,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,25,0,"CCDC168",1,140,"错义",12220,"0.42=54/130",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"]
["12309A(99)v9427",36,35,0.97,{"$nulls":3},"A有","12309A","CCDC169-SOHLH2","chr13:36871764","IVS1+10G>A","非编码区","rs2281865",0.31,0.53,0.53,0.52,0.47,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CCDC169-SOHLH2",1,300,"非编码区",16203,"0.98=58/59",null,100526761,"13q","NM_001198910.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6674",7,2,0.29,{"$nulls":3},"A有","12309A","CCDC33","chr15:74622678","c.1439G>A(E12)","p.480,S>N","rs1564782",0.43,0.36,0.37,0.35,0.28,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CCDC33",1,75,"错义",12220,"0.22=2/9",null,80125,"15q24.1","NM_025055.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4921",13,13,1,{"$nulls":3},"A有","12309A","CCDC48","chr3:128755814","IVS5-6T>C","剪切位点","rs3732429",0.62,0.65,0.67,0.63,null,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CCDC48",0.62,18,"剪切位点",16202,"1.00=21/21",null,79825,"3q21.3","NM_024768.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9248",3,3,1,{"$nulls":3},"A有","12309A","CCDC6","chr10:61665886","c.297C>A(E1)","p.99,V>V","rs1171830",0.38,0.61,0.62,0.59,0.57,0.65,"纯合","无关","有rs号，MAF>=5%",null,"乳头状甲状腺癌","AD",188550,5,1,3,1,"CCDC6",1,190,"同义",13203,"1.00=4/4",null,8030,"10q21","NM_005436.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13944",16,16,1,{"$nulls":3},"A有","12309A","CCDC8","chr19:46914547","c.1521C>G(E1)","p.507,K>N","rs2279517",0.082,0.19,0.19,0.18,0.16,0.18,"纯合","无关","有rs号，MAF>=5%",null,"3-M高椎体骨发育不全综合征3型","AR",614205,5,1,2,1,"CCDC8",1,26,"错义",12210,"1.00=20/20",null,83987,"19q13.32","NM_032040.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18217",56,23,0.41,{"$nulls":3},"A有","12309A","CCL18","chr17:34398495","m.424C>T(E3)","非编码区","rs14304",0.2,0.33,0.31,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CCL18",1,140,"非编码区",14200,"0.45=32/71",null,6362,"17q11.2","NM_002988.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21579",28,9,0.32,{"$nulls":3},"A有","12309A","CCNJL","chr5:159686503","c.700G>A(E5)","p.234,H>Y","rs13362036",0.11,0.16,0.15,0.16,0.14,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CCNJL",0.89,43,"错义",12220,"0.36=14/39",null,79616,"5q33.3","NM_024565.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31152",35,35,1,{"$nulls":3},"A有","12309A","CCT5","chr5:10250430","m.149G>A(E1)","非编码区","rs2548546",0.69,0.88,0.86,0.89,0.79,0.87,"纯合","无关","有rs号，MAF>=5%",null,"感觉神经病变伴遗传性痉挛性截瘫（常染色体隐性遗传）","AR",256840,5,1,7,1,"CCT5",1,170,"非编码区",14200,"0.98=53/54",null,22948,"5p15.2","NM_012073.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15409",32,14,0.44,{"$nulls":3},"A有","12309A","CD164L2","chr1:27709020","c.226T>C(E2)","p.76,M>V","rs2504779",0.34,0.39,0.41,0.36,0.3,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CD164L2",0.98,51,"错义",12220,"0.41=14/34",null,388611,"1p36.11","NM_207397.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11236",115,52,0.45,{"$nulls":3},"A有","12309A","CD209","chr19:7805774","m.3025C>T(E5)","非编码区","rs143217457",0.0016,0,0,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"人类免疫缺陷病毒易感1型",null,609423,3,2,8,3,"CD209",1,110,"非编码区",14100,"0.46=79/171",null,30835,"19p13","NM_001144893.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8889",8,6,0.75,{"$nulls":3},"A有","12309A","CD300A","chr17:72480467","m.1084A>G(E6)","非编码区","rs9903890",0.32,0.19,0.22,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CD300A",1,92,"非编码区",14200,"0.75=6/8",null,11314,"17q25.1","NM_001256841.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20573",245,99,0.4,{"$nulls":3},"A有","12309A","CD36","chr7:80302117","c.1157G>A(E12)","p.386,R>Q","rs187500047",0.0002,0.0024,0,0.0049,6.6E-4,0.00025,"杂合","可能相关","蛋白结构预测结果为有害",null,"血小板膜糖蛋白4缺乏症/出血性疾病，血小板10型","AR",608404,2,3,4,3,"CD36",1,340,"错义",12110,"0.37=171/460",null,948,"7q11.2","NM_000072.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22390",24,24,1,{"$nulls":3},"A有","12309A","CD5L","chr1:157802979","IVS5+3C>T","剪切位点","rs2261295",0.8,0.81,0.8,0.81,null,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CD5L",1,71,"剪切位点",16202,"1.00=30/30",null,922,"1q21-q23","NM_005894.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7248",48,30,0.62,{"$nulls":3},"A有","12309A","CDC123","chr10:12292348","m.1307G>T(E13)","非编码区","rs12590",0.14,0.19,0.18,0.2,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDC123",1,260,"非编码区",14200,"0.64=47/73",null,8872,"10p13","NM_006023.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21082",73,73,1,{"$nulls":3},"A有","12309A","CDC42SE1","chr1:151028234","m.543G>T(E3)","非编码区","rs11204767",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CDC42SE1",1,220,"非编码区",14200,"1.00=117/117",null,56882,"1q21.3","NM_001038707.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15375",42,42,1,{"$nulls":3},"A有","12309A","CDCP1","chr3:45127515","c.2126T>C(E9)","p.709,D>G","rs9874077",0.93,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CDCP1",0.97,92,"错义",12220,"1.00=71/71",null,64866,"3p21.31","NM_022842.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15120",63,63,1,{"$nulls":3},"A有","12309A","CDH23","chr10:73270906","c.366T>C(E6)","p.122,V>V","rs3802720",0.73,0.78,0.77,0.8,0.75,0.78,"纯合","无关","有rs号，MAF>=5%",null,"尤塞氏综合症ID型","AR",601067,5,1,19,2,"CDH23",0.99,63,"同义",13203,"1.00=112/112",null,64072,"10q22.1","NM_001171930.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15121",17,17,1,{"$nulls":3},"A有","12309A","CDH23","chr10:73571883","m.244C>T(E1)","非编码区","rs11000015",0.2,0.4,0.4,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",null,"尤塞氏综合症ID型","AR",601067,5,1,19,2,"CDH23",0.99,63,"非编码区",14200,"1.00=27/27",null,64072,"10q22.1","NM_001171935.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5525",213,212,1,{"$nulls":3},"A有","12309A","CDH6","chr5:31302288","c.882C>T(E6)","p.294,D>D","rs2287582",0.41,0.49,0.48,0.5,0.53,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CDH6",1,220,"同义",13203,"0.99=341/344",null,1004,"5p13.3","NM_004932.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8451",59,34,0.58,{"$nulls":3},"A有","12309A","CDK11A","chr1:1635004","c.1971T>C(E18)","p.657,K>K","rs874516",null,0.41,0.43,0.39,0.4,0.38,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"CDK11A",1,160,"同义",13303,"0.53=52/98",null,728642,"1p36.33","NM_024011.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27905",149,76,0.51,{"$nulls":3},"A有","12309A","CDK5RAP2","chr9:123291036","c.865C>G(E9)","p.289,E>Q","rs4836822",0.8,0.73,0.72,0.74,0.71,0.72,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性原发性小头畸形3型","AR",604804,5,3,6,1,"CDK5RAP2",1,160,"错义",12210,"0.51=125/243",null,55755,"9q33.2","NM_001011649.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24929",46,21,0.46,{"$nulls":3},"A有","12309A","CDSN","chr6:31084163","c.1229A>G(E2)","p.410,L>S","rs3132554",0.65,0.72,0.77,0.67,0.7,0.7,"杂合","无关","有rs号，MAF>=5%",16642438,"脱皮综合征","AR",270300,5,3,11,2,"CDSN",0.92,30,"错义",12220,"0.46=36/78",null,1041,"6p21.3","NM_001264.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24933",16,9,0.56,{"$nulls":3},"A有","12309A","CDSN","chr6:31084943-31084945","c.449(E2)至c.447(E2):缺失CTT","缺失非移码","rs540877039",0.19,0.15,0.11,0.19,0.067,0.18,"杂合","未知","有rs号，MAF>=5%的非移码突变",null,"稀毛症2型/单纯性头皮稀毛症1型","AD",146520,4,1,11,2,"CDSN",0.92,30,"缺失非移码",2222,"0.56=9/16",null,1041,"6p21.3","NM_001264.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28870",53,53,1,{"$nulls":3},"A有","12309A","CEACAM4","chr19:42132314","c.85G>C(E2)","p.29,H>D","rs1126454",0.61,0.88,0.9,0.85,0.87,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CEACAM4",1,88,"错义",12220,"1.00=84/84",null,1089,"19q13.2","NM_001817.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19332",34,34,1,{"$nulls":3},"A有","12309A","CELSR2","chr1:109795026","c.2325T>C(E1)","p.775,Y>Y","rs413380",0.9,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CELSR2",0.96,45,"同义",13203,"1.00=51/51",null,1952,"1p21","NM_001408.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23864",44,21,0.48,{"$nulls":3},"A有","12309A","CENPM","chr22:42341308","c.231A>G(E4)","p.77,S>S","rs7293091",0.3,0.13,0.13,0.14,0.13,0.1,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CENPM",1,51,"同义",13203,"0.49=31/63",null,79019,"22q13.2","NM_001002876.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17534",30,14,0.47,{"$nulls":3},"A有","12309A","CEP164","chr11:117266312","c.2963C>G(E24)","p.988,T>S","rs2305830",0.28,0.27,0.3,0.24,0.21,0.27,"杂合","无关","有rs号，MAF>=5%",null,"肾消耗病15型","AR",614845,5,3,6,1,"CEP164",1,75,"错义",12220,"0.45=25/55",null,22897,"11q23.3","NM_014956.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18330",146,145,0.99,{"$nulls":3},"A有","12309A","CEP290","chr12:88505078","c.2268T>C(E22)","p.756,S>S","rs2468255",0.76,0.99,0.99,0.99,0.94,0.98,"纯合","无关","有rs号，MAF>=5%",null,"Bardet-biedl 综合征14型","AR",615991,5,1,2,5,"CEP290",1,310,"同义",13203,"1.00=238/239",null,80184,"12q21.32","NM_025114.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15559",93,50,0.54,{"$nulls":3},"A有","12309A","CEPT1","chr1:111726869","c.1188G>A(E9)","p.396,A>A","rs3795823",0.19,0.37,0.38,0.36,0.34,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CEPT1",1,240,"同义",13203,"0.55=96/174",null,10390,"1p13.3","NM_001007794.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28409",159,159,1,{"$nulls":3},"A有","12309A","CFH","chr1:196654324","c.921A>C(E7)","p.307,A>A","rs1061147",0.71,0.94,0.96,0.92,0.92,0.95,"纯合","无关","有rs号，MAF>=5%","16936733;17167412;18043728;19026761;20339564;23326517","补体因子H缺乏症","AD,AR",609814,5,1,6,4,"CFH",1,330,"同义",13203,"1.00=267/268",null,3075,"1q32","NM_000186.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25267",129,128,0.99,{"$nulls":3},"A有","12309A","CFHR1","chr1:196801042","c.906G>T(E6)","p.302,R>R","rs4230",0.51,0.53,0.57,0.5,0.5,0.55,"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",235400,5,1,8,2,"CFHR1",1,230,"同义",13203,"0.99=204/206",null,3078,"1q32","NM_002113.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22882",225,100,0.44,{"$nulls":3},"A有","12309A","CFTR","chr7:117235055","c.2562T>G(E15)","p.854,T>T","rs1042077",0.48,0.39,0.39,0.4,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",null,"支气管扩张症伴或不伴汗氯化物升高1型","AD",211400,5,1,3,4,"CFTR",1,230,"同义",13203,"0.44=180/413",null,1080,"7q31.2","NM_000492.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5970",13,4,0.31,{"$nulls":3},"A有","12309A","CHAD","chr17:48545596","c.579G>A(E1)","p.193,D>D","rs34864120",0.19,0.13,0.13,0.13,0.13,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CHAD",1,35,"同义",13203,"0.29=6/21",null,1101,"17q21.33","NM_001267.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23248",21,9,0.43,{"$nulls":3},"A有","12309A","CHD5","chr1:6190315","c.3336C>T(E22)","p.1112,A>A","rs17029184",0.1,0.32,0.33,0.31,0.33,0.34,"杂合","无关","有rs号，MAF>=5%",18803848,{"$nulls":3},5,null,6,0,"CHD5",0.99,56,"同义",13203,"0.45=13/29",null,26038,"1p36.31","NM_015557.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30624",119,119,1,{"$nulls":3},"A有","12309A","CHIA","chr1:111861841","c.532A>G(E8)","p.178,I>V","rs2275253",0.66,0.41,0.47,0.35,0.43,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CHIA",1,160,"错义",12220,"1.00=199/199",null,27159,"1p13.2","NM_001040623.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10047",12,7,0.58,{"$nulls":3},"A有","12309A","CHMP4C","chr8:82644768","m.81C>G(E1)","非编码区","rs79561719",0.069,0.091,0.095,0.087,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CHMP4C",1,190,"非编码区",14200,"0.64=9/14",null,92421,"8q21.13","NM_152284.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27061",50,50,1,{"$nulls":3},"A有","12309A","CHRNA3","chr15:78911261","IVS1-4T>C","剪切位点","rs2869547",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"吸烟数量性状位点3",null,612052,5,1,5,1,"CHRNA3",0.95,140,"剪切位点",16202,"1.00=72/72",null,1136,"15q24","NM_000743.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v467",33,15,0.45,{"$nulls":3},"A有","12309A","CHST15","chr10:125801809","IVS4+8C>A","非编码区","rs28716482",0.35,0.31,0.31,0.3,null,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CHST15",1,120,"非编码区",16203,"0.46=24/52",null,51363,"10q26","NM_001270764.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19360",73,30,0.41,{"$nulls":3},"A有","12309A","CIAPIN1","chr16:57467981","c.531G>A(E5)","p.177,S>S","rs141071676",0.013,0.012,0.024,0,0.0046,0.015,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"CIAPIN1",1,130,"同义",13103,"0.42=48/113",null,57019,"16q21","NM_020313.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15719",20,10,0.5,{"$nulls":3},"A有","12309A","CISH","chr3:50645158","c.708A>G(E4)","p.236,S>S","rs2239753",0.14,0.34,0.32,0.37,0.29,0.33,"杂合","无关","有rs号，MAF>=5%",null,"疟疾,易感",null,611162,5,2,3,3,"CISH",0.98,48,"同义",13203,"0.41=12/29",null,1154,"3p21.3","NM_013324.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13612",242,242,1,{"$nulls":3},"A有","12309A","CLCA2","chr1:86896541","IVS3-4G>A","剪切位点","rs3737672",0.37,0.54,0.54,0.54,null,0.5,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"CLCA2",1,250,"剪切位点",16202,"1.00=510/511",null,9635,"1p22.3","NM_006536.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1713",106,82,0.77,{"$nulls":3},"A有","12309A","CLCNKB","chr1:16376191","c.860C>T(E9)","p.287,A>V","rs7367494",0.83,1,1,1,0.55,1,"杂合","无关","有rs号，MAF>=5%",null,"巴特综合征 III型(经典型)","AR",607364,5,3,16,2,"CLCNKB",1,65,"错义",12220,"0.71=122/173",null,1188,"1p36","NM_000085.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28622",30,14,0.47,{"$nulls":3},"A有","12309A","CLDN24","chr4:184242959","c.621C>G(E1)","p.207,Q>H","rs6839940",0.21,0.21,0.16,0.26,null,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CLDN24",null,null,"错义",12220,"0.43=16/37",null,100132463,"4q35.1","NM_001185149.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24255",94,94,1,{"$nulls":3},"A有","12309A","CLEC1B","chr12:10149851","c.92C>T(E2)","p.31,G>D","rs583903",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CLEC1B",1,260,"错义",12220,"1.00=155/155",null,51266,"12p13.2","NM_001099431.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5563",3,2,0.67,{"$nulls":3},"A有","12309A","CLMN","chr14:95786115","c.15C>T(E1)","p.5,E>E","rs80288032",0.2,0.47,0.46,0.47,0.34,0.45,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CLMN",1,130,"同义",13203,"0.75=6/8",null,79789,"14q32.13","NM_024734.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8523",66,24,0.36,{"$nulls":3},"A有","12309A","CLN5","chr13:77574983","c.1103A>G(E4)","p.368,K>R","rs1800209",0.24,0.28,0.26,0.3,0.23,0.26,"杂合","无关","有rs号，MAF>=5%",null,"神经元蜡样脂褐质沉积症5型","AR",256731,5,3,2,1,"CLN5",0.85,200,"错义",12220,"0.37=28/75",null,1203,"13q21.1-q32","NM_006493.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9292",60,19,0.32,{"$nulls":3},"A有","12309A","CMYA5","chr5:79029726","c.5138T>A(E2)","p.1713,I>N","rs16877141",0.18,0.35,0.29,0.42,0.41,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,28,0,"CMYA5",0.99,140,"错义",12220,"0.34=27/80",null,202333,"5q14.1","NM_153610.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9304",100,100,1,{"$nulls":3},"A有","12309A","CMYA5","chr5:79030045","c.5457A>G(E2)","p.1819,V>V","rs4639193",0.58,0.65,0.57,0.73,0.66,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,28,0,"CMYA5",0.99,140,"同义",13203,"0.99=159/160",null,202333,"5q14.1","NM_153610.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28126",129,128,0.99,{"$nulls":3},"A有","12309A","CNOT4","chr7:135095270","c.816A>G(E7)","p.272,Y>Y","rs2696877",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CNOT4",0.91,200,"同义",13203,"1.00=219/220",null,4850,"7q22-qter","NM_001190847.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10340",64,64,1,{"$nulls":3},"A有","12309A","CNTLN","chr9:17394536","c.2084C>T(E15)","p.695,T>I","rs7035276",0.78,0.78,0.84,0.72,0.71,0.81,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CNTLN",1,250,"错义",12220,"1.00=102/102",null,54875,"9p22.2","NM_017738.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4485",80,79,0.99,{"$nulls":3},"A有","12309A","CNTN4","chr3:3076401","c.1869C>T(E16)","p.623,N>N","rs6790908",0.43,0.32,0.3,0.34,0.32,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"CNTN4",1,270,"同义",13203,"0.99=123/124",null,152330,"3p26.3","NM_001206955.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16648",47,47,1,{"$nulls":3},"A有","12309A","COG1","chr17:71192663","c.333G>A(E2)","p.111,Q>Q","rs1052706",0.45,0.61,0.58,0.64,0.57,0.61,"纯合","无关","有rs号，MAF>=5%",null,"先天性糖基化病2G型",null,611209,5,1,5,1,"COG1",0.95,110,"同义",13203,"1.00=74/74",null,9382,"17q25.1","NM_018714.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15460",19,18,0.95,{"$nulls":3},"A有","12309A","COL10A1","chr6:116441229-116441230","m.2146(E3)至m.2145(E3):插入GGG","非编码区","rs111661664",0.96,1,1,1,0.72,1,"纯合","未知","有rs号，MAF>=5%的UTR突变",null,"Schmid型干骺端软骨发育异常","AD",156500,4,1,1,1,"COL10A1",1,95,"非编码区",2420,"0.95=19/20",null,1300,"6q21-q22","NM_000493.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10335",12,5,0.42,{"$nulls":3},"A有","12309A","COL11A2","chr6:33139328","c.2853C>T(E40)","p.951,P>P","rs1799910",0.51,0.34,0.36,0.32,0.27,0.33,"杂合","无关","有rs号，MAF>=5%",null,"耳脊椎骨骺发育不良","AR",215150,5,3,3,6,"COL11A2",0.65,25,"同义",13203,"0.40=8/20",null,1302,"6p21.3","NM_080679.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26735",8,8,1,{"$nulls":3},"A有","12309A","COL16A1","chr1:32126672","c.3820C>T(E61)","p.1274,A>T","rs145602591",0.02,0.0048,0.0048,0.0049,0.0069,0.029,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,8,0,"COL16A1",1,67,"错义",12120,"1.00=12/12",null,1307,"1p35-p34","NM_001856.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v320",24,24,1,{"$nulls":3},"A有","12309A","COL1A1","chr17:48262775","m.4609A>G(E51)","非编码区","rs1061237",0.38,0.52,0.47,0.57,null,null,"纯合","无关","有rs号，MAF>=5%",null,"爱唐综合症(皮肤弹力过度症)7A型（arthrochalasia型）","AD",130060,5,1,3,8,"COL1A1",1,51,"非编码区",14200,"1.00=29/29",null,1277,"17q21.33","NM_000088.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19774",162,157,0.97,{"$nulls":3},"A有","12309A","COL1A2","chr7:94030899","c.246T>C(E6)","p.82,D>D","rs1800222",0.3,0.4,0.41,0.38,0.39,0.4,"纯合","无关","有rs号，MAF>=5%",19015742,"爱唐综合症(皮肤弹力过度症)7A型（arthrochalasia型）","AD",130060,5,1,6,6,"COL1A2",1,220,"同义",13203,"0.97=270/279",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"]
["12309A(99)v19773",83,83,1,{"$nulls":3},"A有","12309A","COL1A2","chr7:94047050","c.1878G>T(E32)","p.626,V>V","rs1800238",0.099,0.38,0.38,0.37,0.36,0.46,"纯合","无关","有rs号，MAF>=5%",23800505,"成骨不全4型","AD",166220,5,1,6,6,"COL1A2",1,220,"同义",13203,"1.00=139/139",null,1278,"7q22.1","NM_000089.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11985",63,62,0.98,{"$nulls":3},"A有","12309A","COL27A1","chr9:116931099","c.1264G>A(E3)","p.422,A>T","rs2241671",0.38,0.55,0.52,0.57,0.56,0.56,"纯合","无关","有rs号，MAF>=5%",null,"Steel综合征","AR",615155,5,1,8,1,"COL27A1",1,70,"错义",12220,"0.99=95/96",null,85301,"9q32","NM_032888.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14599",14,8,0.57,{"$nulls":3},"A有","12309A","COL2A1","chr12:48375568","c.2400A>G(E36)","p.800,N>N","rs1635553",0.48,0.57,0.56,0.57,0.53,0.57,"杂合","无关","有rs号，MAF>=5%",null,"Strudwick型脊椎骨骺-干骺端发育不良","AD",184250,5,1,4,14,"COL2A1",0.99,80,"同义",13203,"0.67=14/21",null,1280,"12q13.11","NM_001844.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14600",54,27,0.5,{"$nulls":3},"A有","12309A","COL2A1","chr12:48391416","c.504G>T(E7)","p.168,G>G","rs3737548",0.22,0.29,0.3,0.29,0.26,0.33,"杂合","无关","有rs号，MAF>=5%","18523590;19019890;19430638","Kniest发育不良","AD",156550,5,1,4,14,"COL2A1",0.99,80,"同义",13203,"0.49=41/84",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"]
["12309A(99)v26901",59,27,0.46,{"$nulls":3},"A有","12309A","COL4A1","chr13:110833702","c.2130C>T(E29)","p.710,P>P","rs16975492",0.31,0.26,0.3,0.23,0.25,0.28,"杂合","无关","有rs号，MAF>=5%",null,"脑出血、中风（易感）",null,614519,5,2,8,4,"COL4A1",1,170,"同义",13203,"0.45=46/102",null,1282,"13q34","NM_001845.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10236",32,16,0.5,{"$nulls":3},"A有","12309A","COL4A2","chr13:111144412","IVS37-5C>G","剪切位点","rs2296849",0.12,0.19,0.17,0.22,null,0.18,"杂合","无关","有rs号，MAF>=5%",null,"脑出血、中风（易感）",null,614519,5,2,14,2,"COL4A2",1,100,"剪切位点",16201,"0.45=25/56",null,1284,"13q34","NM_001846.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21456",127,127,1,{"$nulls":3},"A有","12309A","COL4A3BP","chr5:74685520","IVS12-8A>G","剪切位点","rs3761743",0.39,0.33,0.3,0.36,null,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"COL4A3BP",1,260,"剪切位点",16202,"1.00=202/202",null,10087,"5q13.3","NM_001130105.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5146",9,4,0.44,{"$nulls":3},"A有","12309A","COL6A2","chr21:47540421","IVS15-8T>C","剪切位点","rs73159701",0.2,0.31,0.34,0.28,0.22,0.32,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性肌硬化症","AR",255600,5,3,6,3,"COL6A2",0.92,21,"剪切位点",16202,"0.64=9/14",null,1292,"21q22.3","NM_001849.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23341",69,35,0.51,{"$nulls":3},"A有","12309A","COL6A3","chr2:238233410","m.9826C>G(E44)","非编码区","rs4663722",0.21,0.24,0.23,0.24,0.17,0.22,"杂合","无关","有rs号，MAF>=5%",null,"Bethlem肌病","AD,AR",158810,5,1,7,2,"COL6A3",1,120,"非编码区",14200,"0.54=62/115",null,1293,"2q37","NM_004369.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15792",108,55,0.51,{"$nulls":3},"A有","12309A","COL6A6","chr3:130361856","c.5216G>A(E30)","p.1739,R>Q","rs16830494",0.12,0.19,0.19,0.2,0.2,0.18,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"COL6A6",1,180,"错义",12210,"0.47=78/165",null,131873,"3q22.1","NM_001102608.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16161",23,23,1,{"$nulls":3},"A有","12309A","COPS7A","chr12:6840371","m.1368G>T(E7)","非编码区","rs11227",0.67,0.79,0.81,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"COPS7A",1,71,"非编码区",14200,"1.00=25/25",null,50813,"12p13.31","NM_001164093.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7518",165,83,0.5,{"$nulls":3},"A有","12309A","COX4I1","chr16:85834818","c.7G>A(E2)","p.3,A>T","rs11557187",0.13,0.3,0.32,0.29,0.27,0.31,"杂合","无关","有rs号，MAF>=5%","18389087;20413852",{"$nulls":3},5,null,2,0,"COX4I1",1,150,"错义",12220,"0.50=141/281",null,1327,"16q24.1","NM_001861.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25570",140,56,0.4,{"$nulls":3},"A有","12309A","CPB1","chr3:148562470","c.694T>C(E8)","p.232,F>L","rs73866671",0.016,0.043,0.029,0.058,0.043,0.038,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"CPB1",1,250,"错义",12120,"0.39=92/234",null,1360,"3q24","NM_001871.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5425",71,31,0.44,{"$nulls":3},"A有","12309A","CPM","chr12:69265578","c.417A>G(E4)","p.139,Y>Y","rs2228654",0.49,0.54,0.52,0.56,0.53,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CPM",1,210,"同义",13203,"0.42=50/120",null,1368,"12q14.3","NM_001005502.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5891",136,135,0.99,{"$nulls":3},"A有","12309A","CPQ","chr8:97847358","c.591G>T(E3)","p.197,V>V","rs1864384",0.61,0.89,0.89,0.9,0.89,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CPQ",1,200,"同义",13203,"0.99=216/218",null,10404,"8q22.2","NM_016134.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16076",44,44,1,{"$nulls":3},"A有","12309A","CPXM2","chr10:125528048","c.1293G>A(E9)","p.431,Y>Y","rs1219725",0.38,0.64,0.64,0.64,0.61,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"CPXM2",0.98,110,"同义",13203,"1.00=63/63",null,119587,"10q26.13","NM_198148.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30896",146,146,1,{"$nulls":3},"A有","12309A","CR2","chr1:207653395","c.3185C>A(E18)","p.1062,A>E","rs17617",0.94,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"普通变异性免疫缺陷病7型","AR",614699,5,1,1,2,"CR2",1,210,"错义",12220,"1.00=252/252",null,1380,"1q32","NM_001006658.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16647",19,19,1,{"$nulls":3},"A有","12309A","CRHBP","chr5:76264982","m.1521T>C(E7)","非编码区","rs1875999",0.43,0.56,0.57,0.54,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CRHBP",1,180,"非编码区",14200,"1.00=20/20",null,1393,"5q11.2-q13.3","NM_001882.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27975",20,7,0.35,{"$nulls":3},"A有","12309A","CROCC","chr1:17264920","c.1316C>T(E11)","p.439,A>V","rs4463721",{"$nulls":4},0.32,0.48,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"CROCC",0.81,12,"错义",12320,"0.38=12/32",null,9696,"1p36.13","NM_014675.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14732",171,90,0.53,{"$nulls":3},"A有","12309A","CRYZ","chr1:75175886","c.526T>C(E7)","p.176,I>V","rs3819946",0.46,0.75,0.74,0.75,0.74,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"CRYZ",1,310,"错义",12220,"0.49=151/311",null,1429,"1p31-p22","NM_001130042.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26356",113,46,0.41,{"$nulls":3},"A有","12309A","CSMD2","chr1:34071525","c.6287C>T(E42)","p.2096,R>K","rs1874045",0.52,0.61,0.53,0.68,0.63,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"CSMD2",1,110,"错义",12220,"0.41=75/184",null,114784,"1p34.3","NM_052896.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20078",16,15,0.94,{"$nulls":3},"A有","12309A","CSNK2A1P","chr11:11373508","c.1159T>C(E1)","p.387,T>A","rs7948121",0.95,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"CSNK2A1P",null,null,"错义",12220,"0.95=19/20",null,283106,"11p15.3","NM_001256686.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9614",60,32,0.53,{"$nulls":3},"A有","12309A","CST11","chr20:23432528","c.258A>G(E2)","p.86,N>N","rs2236021",0.28,0.3,0.32,0.27,0.28,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"CST11",1,150,"同义",13203,"0.55=53/97",null,140880,"20p11.21","NM_130794.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17958",198,85,0.43,{"$nulls":3},"A有","12309A","CTDP1","chr18:77473086","c.621G>A(E7)","p.207,T>T","rs599554",0.21,0.089,0.09,0.087,0.078,0.11,"杂合","无关","有rs号，MAF>=5%",null,"先天性白内障、面部形态异常和神经疾病","AR",604168,5,3,3,1,"CTDP1",0.79,53,"同义",13203,"0.41=141/342",null,9150,"18q23","NM_001202504.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15552",54,24,0.44,{"$nulls":3},"A有","12309A","CTNNA2","chr2:80101321","c.705T>G(E6)","p.235,A>A","rs61291641",0.28,0.44,0.42,0.45,0.4,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CTNNA2",1,170,"同义",13203,"0.51=44/86",null,1496,"2p12-p11.1","NM_001164883.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9965",23,23,1,{"$nulls":3},"A有","12309A","CTSF","chr11:66331458","c.1401A>G(E13)","p.467,R>R","rs572846",0.59,0.59,0.6,0.58,0.56,0.54,"纯合","无关","有rs号，MAF>=5%",null,"神经元蜡样脂褐质沉积病13","AR",615362,5,1,4,1,"CTSF",0.95,49,"同义",13203,"1.00=29/29",null,8722,"11q13","NM_003793.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8221",118,54,0.46,{"$nulls":3},"A有","12309A","CUBN","chr10:17024503","c.4675G>A(E31)","p.1559,P>S","rs1801231",0.61,0.56,0.55,0.56,0.53,0.54,"杂合","无关","有rs号，MAF>=5%",null,"巨幼细胞性贫血1型/维生素B12选择性吸收障碍综合征","AR",261100,5,3,15,1,"CUBN",1,240,"错义",12210,"0.44=80/182",null,8029,"10p12.31","NM_001081.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19610",124,124,1,{"$nulls":3},"A有","12309A","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,"冠心病（易感）1型",null,607339,5,1,4,3,"CX3CR1",1,130,"错义",12220,"1.00=212/212",null,1524,"3p21.3","NM_001171174.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6904",4,3,0.75,{"$nulls":3},"A有","12309A","CXCL1","chr4:74735150","m.42G>T(E1)","非编码区","rs11547681",0.21,0.35,0.39,0.32,null,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CXCL1",1,84,"非编码区",14200,"0.83=5/6",null,2919,"4q21","NM_001511.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7072",4,4,1,{"$nulls":3},"A有","12309A","CXorf36","chrX:45023152","m.916G>C(E3)","非编码区","rs7061984",null,0.42,0.46,0.38,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"CXorf36",1,47,"非编码区",14300,"1.00=4/4",null,79742,"Xp11.3","NM_024689.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27766",2,2,1,{"$nulls":3},"A有","12309A","CYBA","chr16:88717386","c.36T>C(E1)","p.12,E>E","rs8053867",1,1,1,1,0.78,1,"纯合","无关","有rs号，MAF>=5%",null,"AR遗传慢性肉芽肿病细胞色素B阴性","AR",233690,5,1,3,1,"CYBA",0.94,20,"同义",13203,"1.00=3/3",null,1535,"16q24","NM_000101.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20514",41,12,0.29,{"$nulls":3},"A有","12309A","CYP21A2","chr6:32006387","c.188A>T(E1)","p.63,H>L",{"$nulls":5},0.11,0.32,"杂合","可能相关","蛋白结构预测结果为有害",null,"21-羟化酶缺陷导致的先天性肾上腺皮质增生症","AR",201910,2,3,5,1,"CYP21A2",0.97,66,"错义",12410,"0.38=20/53",null,1589,"6p21.3","NM_000500.7","位于基因组多拷贝区域+DNA结构正常","疑似阳性"]
["12309A(99)v25349",33,19,0.58,{"$nulls":3},"A有","12309A","CYP2A7","chr19:41381415","m.2210G>C(E9)","非编码区","rs1061609",0.58,0.43,0.43,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"CYP2A7",0.99,150,"非编码区",14200,"0.61=23/38",null,1549,"19q13.2","NM_000764.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25343",89,89,1,{"$nulls":3},"A有","12309A","CYP2A7","chr19:41381448","m.2177G>C(E9)","非编码区","rs696839",0.78,0.86,0.88,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"CYP2A7",0.99,150,"非编码区",14200,"1.00=107/107",null,1549,"19q13.2","NM_000764.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17003",70,18,0.26,{"$nulls":3},"A有","12309A","CYP4A22","chr1:47610590","c.1170A>C(E9)","p.390,G>G","rs2405593",0.1,0.24,0.2,0.29,0.24,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"CYP4A22",1,210,"同义",13203,"0.20=24/119",null,284541,"1p33","NM_001010969.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14849",5,3,0.6,{"$nulls":3},"A有","12309A","CYP51A1","chr7:91742728","m.1943C>G(E10)","非编码区","rs7793861",0.36,0.16,0.15,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"CYP51A1",0.99,230,"非编码区",14200,"0.67=4/6",null,1595,"7q21.2","NM_000786.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30929",108,52,0.48,{"$nulls":3},"A有","12309A","CYTH3","chr7:6227314","c.156G>A(E3)","p.52,I>I","rs181004621",0.0016,0.014,0.024,0.0049,null,0.0062,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"CYTH3",0.97,120,"同义",13103,"0.42=79/188",null,9265,"7p22.1","NM_004227.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21843",5,4,0.8,{"$nulls":3},"A有","12309A","DARC","chr1:159175005-159175005","UTR:缺失T","非编码区","rs17838198",0.78,0.69,0.69,0.69,0.2,null,"杂合","无关","不在基因上的突变",null,"疟疾,易感",null,611162,5,2,1,3,"DARC",1,42,"非编码区",2600,"0.67=4/6",null,2532,"1q21-q22","NM_001122951.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10536",9,9,1,{"$nulls":3},"A有","12309A","DCAF6","chr1:167906239","c.90A>C(E1)","p.30,R>R","rs203788",1,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DCAF6",0.93,250,"同义",13203,"1.00=13/13",null,55827,"1q24.2","NM_001017977.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27764",17,17,1,{"$nulls":3},"A有","12309A","DCHS2","chr4:155243811","m.5059T>G(E8)","非编码区","rs1352713",0.87,0.86,0.85,0.86,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"DCHS2",0.99,130,"非编码区",14200,"1.00=20/20",null,54798,"4q31.3","NM_001142552.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31449",15,15,1,{"$nulls":3},"A有","12309A","DCP1B","chr12:2058245","IVS8+7T>C","非编码区","rs2240612",0.52,0.75,0.77,0.74,null,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DCP1B",1,130,"非编码区",16203,"1.00=28/28",null,196513,"12p13.33","NM_152640.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8282",53,53,1,{"$nulls":3},"A有","12309A","DDX11","chr12:31242399","c.855T>C(E8)","p.285,C>C","rs3881298",0.65,0.76,0.75,0.77,0.71,0.76,"纯合","无关","有rs号，MAF>=5%",null,"华沙染色体断裂综合征","AR",613398,5,1,8,1,"DDX11",1,170,"同义",13203,"0.99=95/96",null,1663,"12p11","NM_001257144.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23036",29,12,0.41,{"$nulls":3},"A有","12309A","DDX51","chr12:132626425","c.965G>A(E6)","p.322,A>V","rs60927391",0.29,0.18,0.19,0.17,0.16,0.15,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DDX51",0.85,29,"错义",12220,"0.39=18/46",null,317781,"12q24.33","NM_175066.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7271",199,81,0.41,{"$nulls":3},"A有","12309A","DDX60L","chr4:169327191","c.3123C>T(E24)","p.1041,K>K","rs3762856",0.33,0.4,0.41,0.38,0.4,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"DDX60L",1,310,"同义",13203,"0.44=138/313",null,91351,"4q32.3","NM_001012967.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20723",5,5,1,{"$nulls":3},"A有","12309A","DEGS2","chr14:100615665","c.465T>C(E2)","p.155,T>T","rs4905936",0.9,1,1,1,0.77,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DEGS2",0.95,16,"同义",13203,"1.00=9/9",null,123099,"14q32.2","NM_206918.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3654",7,3,0.43,{"$nulls":3},"A有","12309A","DENND6B","chr22:50752150","c.1207C>T(E15)","p.403,V>M","rs68178377",0.28,0.22,0.19,0.25,0.17,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DENND6B",0.98,21,"错义",12220,"0.33=3/9",{"$nulls":3},"NM_001001794.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4085",7,4,0.57,{"$nulls":3},"A有","12309A","DFFB","chr1:3800480","m.1515G>T(E7)","非编码区","rs7555538",0.36,0.31,0.3,0.31,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"DFFB",0.97,75,"非编码区",14200,"0.60=6/10",null,1677,"1p36.3","NM_004402.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30015",46,46,1,{"$nulls":3},"A有","12309A","DGKG","chr3:186006566","c.477T>C(E6)","p.159,V>V","rs710443",null,0.68,0.7,0.67,0.71,0.72,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"DGKG",1,140,"同义",13303,"1.00=79/79",null,1608,"3q27.2-q27.3","NM_001080744.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29147",149,77,0.52,{"$nulls":3},"A有","12309A","DHTKD1","chr10:12143105","c.1821C>G(E10)","p.607,I>M","rs2062988",0.72,0.66,0.63,0.69,0.69,0.69,"杂合","无关","有rs号，MAF>=5%",16385451,"2 - 氨基2-氧代己二酸尿症","AR",204750,5,3,5,2,"DHTKD1",1,170,"错义",12220,"0.50=123/244",null,55526,"10p14","NM_018706.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18608",9,8,0.89,{"$nulls":3},"A有","12309A","DIABLO","chr12:122692820","m.1633T>C(E7)","非编码区","rs12870",0.71,0.81,0.78,0.84,null,0.81,"杂合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传耳聋64型","AD",614152,5,1,1,1,"DIABLO",0.97,150,"非编码区",14200,"0.90=9/10",null,56616,"12q24.31","NM_019887.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13817",111,60,0.54,{"$nulls":3},"A有","12309A","DIS3","chr13:73343039","c.1677C>T(E14)","p.559,T>T","rs2196979",0.77,0.78,0.75,0.82,0.79,0.75,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"DIS3",1,260,"同义",13203,"0.54=91/167",null,22894,"13q22.1","NM_001128226.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13367",33,16,0.48,{"$nulls":3},"A有","12309A","DISP1","chr1:223178561","c.3822A>C(E10)","p.1274,P>P","rs9441941",0.5,0.49,0.48,0.49,0.49,0.52,"杂合","无关","有rs号，MAF>=5%",19184110,{"$nulls":3},5,null,4,0,"DISP1",1,120,"同义",13203,"0.45=30/66",null,84976,"1q41","NM_032890.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30145",194,194,1,{"$nulls":3},"A有","12309A","DMBT1","chr10:124331867","c.225C>T(E5)","p.75,T>T","rs7084792",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"DMBT1",1,160,"同义",13203,"1.00=351/351",null,1755,"10q26.13","NM_004406.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3317",62,62,1,{"$nulls":3},"A有","12309A","DMD","chrX:32380996","c.5210C>T(E37)","p.1737,R>H","rs1801187",null,0.72,0.71,0.72,0.71,0.74,"纯合","可能相关","蛋白结构预测结果为有害",null,"杜氏肌营养不良/进行性假肥大性肌营养不良症","XR",310200,2,1,3,3,"DMD",1,150,"错义",12310,"1.00=118/118",null,1756,"Xp21.2","NM_000109.3","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12309A(99)v24783",40,23,0.57,{"$nulls":3},"A有","12309A","DNAAF1","chr16:84209864","c.2024G>C(E11)","p.675,S>T","rs2288023",0.27,0.42,0.36,0.49,0.38,0.38,"杂合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍13型","AR",613193,5,3,9,1,"DNAAF1",0.98,130,"错义",12220,"0.60=31/52",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"]
["12309A(99)v8754",240,114,0.47,{"$nulls":3},"A有","12309A","DNAH12","chr3:57443817","IVS21+9T>C","非编码区","rs6768661",0.63,0.45,0.42,0.48,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"DNAH12",1,320,"非编码区",16203,"0.44=179/411",null,201625,"3p14.3","NM_178504.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12305",126,63,0.5,{"$nulls":3},"A有","12309A","DNAH14","chr1:225273248","c.3330G>T(E21)","p.1110,M>I","rs3128658",0.7,0.72,0.69,0.75,0.71,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"DNAH14",1,300,"错义",12220,"0.50=101/201",null,127602,"1q42.12","NM_001373.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6053",16,10,0.62,{"$nulls":3},"A有","12309A","DNAH2","chr17:7736480","c.13070T>A(E84)","p.4357,V>D","rs78354379",0.047,0.24,0.25,0.23,0.23,0.21,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"DNAH2",1,110,"错义",12110,"0.56=10/18",null,146754,"17p13.1","NM_020877.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28277",69,69,1,{"$nulls":3},"A有","12309A","DNAH6","chr2:84771567","c.873C>T(E5)","p.291,S>S","rs1542477",0.82,0.99,0.99,0.99,0.96,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"DNAH6",1,260,"同义",13203,"1.00=118/118",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"]
["12309A(99)v22702",119,60,0.5,{"$nulls":3},"A有","12309A","DNAH9","chr17:11835321","IVS63-10C>T","剪切位点","rs2286305",0.16,0.2,0.2,0.19,null,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"DNAH9",0.97,140,"剪切位点",16202,"0.51=94/185",null,1770,"17p12","NM_001372.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29752",41,19,0.46,{"$nulls":3},"A有","12309A","DNAJC6","chr1:65858151","c.1506C>T(E12)","p.502,H>H","rs11208644",0.31,0.57,0.58,0.56,0.52,0.58,"杂合","无关","有rs号，MAF>=5%",null,"青少年发病的帕金森氏病19型","AR",615528,5,3,6,1,"DNAJC6",0.93,200,"同义",13203,"0.45=30/66",null,9829,"1p31.3","NM_001256864.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v828",78,78,1,{"$nulls":3},"A有","12309A","DNHD1","chr11:6550309","c.2305G>A(E12)","p.769,G>R","rs2344829",0.72,0.85,0.87,0.83,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"DNHD1",1,68,"错义",12220,"1.00=125/125",null,144132,"11p15.4","NM_144666.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24497",68,68,1,{"$nulls":3},"A有","12309A","DNMT3B","chr20:31388636","IVS15-5T>C","剪切位点","rs2424928",0.74,0.99,1,0.98,0.97,1,"纯合","无关","有rs号，MAF>=5%",null,"免疫机能丧失,着丝粒的不稳定和面部畸形综合症1型","AR",242860,5,1,4,1,"DNMT3B",1,110,"剪切位点",16202,"1.00=136/136",null,1789,"20q11.2","NM_001207055.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9873",171,79,0.46,{"$nulls":3},"A有","12309A","DOCK4","chr7:111512630","IVS17-10T>C","剪切位点","rs28593141",0.26,0.15,0.14,0.15,null,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DOCK4",1,270,"剪切位点",16202,"0.43=133/312",null,9732,"7q31.1","NM_014705.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14502",16,16,1,{"$nulls":3},"A有","12309A","DOK3","chr5:176930135","c.904G>A(E6)","p.302,R>C","rs28376231",0.99,1,1,1,0.92,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"DOK3",0.84,20,"错义",12220,"1.00=17/17",null,79930,"5q35.3","NM_001144875.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19977",16,9,0.56,{"$nulls":3},"A有","12309A","DPH1","chr17:1943888","c.1011T>C(E9)","p.337,P>P","rs2236375",0.82,0.91,0.96,0.86,0.89,0.93,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DPH1",0.95,49,"同义",13203,"0.57=12/21",null,1801,"17p13.3","NM_001383.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22155",131,53,0.4,{"$nulls":3},"A有","12309A","DPT","chr1:168665747-168665748","m.676(E4)至m.675(E4):插入T","非编码区","rs78760104",0.65,0.59,0.64,0.54,0.11,0.57,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"DPT",1,140,"非编码区",2420,"0.40=58/145",null,1805,"1q12-q23","NM_001937.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28867",26,26,1,{"$nulls":3},"A有","12309A","DRD2","chr11:113283477","c.939A>G(E7)","p.313,H>H","rs6275",0.53,0.45,0.42,0.48,0.42,0.46,"纯合","无关","有rs号，MAF>=5%","16867246;18077373;18154681;18305461;18477981;18698231;18829695;18838251;19197363;19207030;19373123;19512960;19590515;19772578;19911060;19913597;20191112;21095016;21354244;22290307;22875483;22970887;23856854;24724616","肌阵挛性肌张力障碍","AD",159900,5,1,2,1,"DRD2",1,71,"同义",13203,"1.00=39/39",null,1813,"11q23","NM_000795.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7071",7,7,1,{"$nulls":3},"A有","12309A","DSCR3","chr21:38639763-38639764","m.71(E1)至m.70(E1):插入C","非编码区","rs397760805",1,1,1,1,0.052,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"DSCR3",1,160,"非编码区",2420,"1.00=7/7",null,10311,"21q22.2","NM_006052.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4230",224,112,0.5,{"$nulls":3},"A有","12309A","DSP","chr6:7577260","c.2862C>T(E20)","p.954,C>C","rs2064217",0.28,0.21,0.22,0.2,0.17,0.2,"杂合","无关","有rs号，MAF>=5%",null,"致命皮肤棘层松解的大疱性表皮松解症","AR",609638,5,3,8,6,"DSP",1,130,"同义",13203,"0.48=176/366",null,1832,"6p24","NM_001008844.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4224",8,3,0.38,{"$nulls":3},"A有","12309A","DSP","chr6:7586150","m.7137T>C(E24)","非编码区","rs145079869",0.0068,0.043,0.038,0.049,0.051,0.05,"杂合","未知","UTR突变可能影响蛋白翻译",null,"纹状掌跖角化症2型",null,612908,3,2,8,6,"DSP",1,130,"非编码区",14100,"0.30=3/10",null,1832,"6p24","NM_001008844.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22104",28,23,0.82,{"$nulls":3},"A有","12309A","DSPP","chr4:88536883","c.3069T>C(E5)","p.1023,N>N","rs111066820",0.71,0.71,0.66,0.76,0.64,0.3,"杂合","无关","有rs号，MAF>=5%",null,"牙本质发育不全2型","AD",125420,5,1,22,4,"DSPP",1,140,"同义",13203,"0.85=35/41",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"]
["12309A(99)v22106",22,19,0.86,{"$nulls":3},"A有","12309A","DSPP","chr4:88537081","c.3267C>T(E5)","p.1089,D>D","rs370267258",0.17,0.11,0.1,0.12,0.2,null,"纯合","无关","有rs号，MAF>=5%",null,"牙本质发育不全2型","AD",125420,5,1,22,4,"DSPP",1,140,"同义",13203,"0.90=26/29",null,1834,"4q21.3","NM_014208.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14897",51,50,0.98,{"$nulls":3},"A有","12309A","DST","chr6:56417545","c.8176T>C(E42)","p.2726,T>A","rs4715631",0.66,0.67,0.66,0.67,0.65,0.66,"纯合","无关","有rs号，MAF>=5%",null,"大疱性表皮松解症单纯2型","AR",615425,5,1,3,2,"DST",1,200,"错义",12220,"0.99=82/83",null,667,"6p12.1","NM_015548.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15472",7,6,0.86,{"$nulls":3},"A有","12309A","DUSP16","chr12:12629542","m.2986T>C(E7)","非编码区","rs10845553",0.21,0.12,0.11,0.12,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DUSP16",1,180,"非编码区",14200,"0.88=7/8",null,80824,"12p13","NM_030640.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21315",14,14,1,{"$nulls":3},"A有","12309A","DYDC2","chr10:82126808","m.702C>G(E4)","非编码区","rs1047952",0.85,0.99,0.99,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DYDC2",0.94,130,"非编码区",14200,"1.00=17/17",null,84332,"10q23.1","NM_001270041.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17048",38,37,0.97,{"$nulls":3},"A有","12309A","DYRK4","chr12:4705317","c.285C>T(E5)","p.95,V>V","rs3741925",0.24,0.32,0.32,0.33,0.29,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"DYRK4",1,170,"剪切位点",13202,"0.98=59/60",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"]
["12309A(99)v21028",20,9,0.45,{"$nulls":3},"A有","12309A","EARS2","chr16:23541223","IVS5-5G>A","剪切位点","rs2072061",0.67,0.67,0.67,0.67,0.67,0.69,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷12型","AR",614924,5,3,5,1,"EARS2",1,66,"剪切位点",16202,"0.47=15/32",null,124454,"16p12.2","NM_001083614.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16007",10,10,1,{"$nulls":3},"A有","12309A","ECHS1","chr10:135180430","c.582A>G(E5)","p.194,T>T","rs2230261",0.95,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ECHS1",0.9,120,"同义",13203,"1.00=15/15",null,1892,"10q26.2-q26.3","NM_004092.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6947",214,214,1,{"$nulls":3},"A有","12309A","EDEM1","chr3:5241309","c.615C>A(E3)","p.205,A>A","rs410509",0.92,0.96,0.96,0.96,0.92,0.94,"纯合","无关","有rs号，MAF>=5%",20657766,{"$nulls":3},5,null,1,0,"EDEM1",0.95,150,"同义",13203,"1.00=415/416",null,9695,"3p26.1","NM_014674.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8773",112,48,0.43,{"$nulls":3},"A有","12309A","EDNRA","chr4:148463840","m.1557G>C(E6)","非编码区","rs5335",0.58,0.44,0.42,0.45,0.43,null,"杂合","无关","有rs号，MAF>=5%",null,"有或无先兆的偏头痛（易感）","AD",157300,5,1,1,1,"EDNRA",1,260,"非编码区",14200,"0.39=71/180",null,1909,"4q31.22","NM_001166055.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9604",91,90,0.99,{"$nulls":3},"A有","12309A","EFCAB5","chr17:28320248","c.665T>A(E5)","p.222,I>K","rs4795524",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"EFCAB5",0.98,230,"错义",12230,"0.99=134/135",null,374786,"17q11.2","NM_001145053.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12183",18,9,0.5,{"$nulls":3},"A有","12309A","EFS","chr14:23826822","c.1299C>T(E6)","p.433,L>L","rs2231809",0.46,0.35,0.33,0.37,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EFS",0.9,17,"同义",13203,"0.51=18/35",null,10278,"14q11.2-q12","NM_005864.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2347",52,28,0.54,{"$nulls":3},"A有","12309A","EGFR","chr7:55214348","c.474C>T(E4)","p.158,N>N","rs2072454",0.48,0.41,0.39,0.44,0.37,0.37,"杂合","无关","有rs号，MAF>=5%","17598910;17956637;22552271;25071358","肺癌","AR",211980,5,3,5,2,"EGFR",1,140,"同义",13203,"0.51=46/91",null,1956,"7p12","NM_005228.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30829",207,100,0.48,{"$nulls":3},"A有","12309A","EIF2AK1","chr7:6066461","c.1659T>C(E14)","p.553,P>P","rs2639",0.34,0.44,0.5,0.39,0.4,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EIF2AK1",0.97,250,"同义",13203,"0.49=164/333",null,27102,"7p22","NM_001134335.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30151",130,58,0.45,{"$nulls":3},"A有","12309A","EIF4A1","chr17:7478498","c.267G>A(E4)","p.89,S>S","rs7358",0.14,0.13,0.14,0.12,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EIF4A1",1,120,"同义",13203,"0.45=90/201",null,1973,"17p13","NM_001204510.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v644",3,3,1,{"$nulls":3},"A有","12309A","ELAC2","chr17:12895855","m.2758A>T(E23)","非编码区","rs6949",0.8,0.72,0.7,0.74,null,null,"纯合","无关","有rs号，MAF>=5%",null,"氧化磷酸化偶联障碍17型","AR",615440,5,1,3,2,"ELAC2",1,130,"非编码区",14200,"1.00=3/3",null,60528,"17p11.2","NM_001165962.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27238",55,23,0.42,{"$nulls":3},"A有","12309A","ELP2","chr18:33718326","c.382A>C(E4)","p.128,T>P","rs1785934",0.32,0.19,0.18,0.19,0.18,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ELP2",0.93,240,"错义",12220,"0.40=38/95",null,55250,"18q12.2","NM_001242875.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4392",157,64,0.41,{"$nulls":3},"A有","12309A","EML1","chr14:100375707","c.1187C>T(E12)","p.396,A>V","rs34198557",0.25,0.46,0.45,0.47,0.34,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"EML1",0.97,210,"错义",12220,"0.44=115/264",null,2009,"14q32","NM_001008707.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24426",13,5,0.38,{"$nulls":3},"A有","12309A","ENOSF1","chr18:671057","m.3455C>T(E16)","非编码区","rs2853535",0.5,0.68,0.69,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ENOSF1",0.85,180,"非编码区",14200,"0.38=5/13",null,55556,"18p11.32","NM_001126123.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2553",157,157,1,{"$nulls":3},"A有","12309A","ENPEP","chr4:111409705","c.653T>C(E2)","p.218,V>A","rs1126483",0.51,0.69,0.68,0.69,0.65,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ENPEP",1,300,"错义",12220,"1.00=258/259",null,2028,"4q25","NM_001977.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23680",162,162,1,{"$nulls":3},"A有","12309A","EOGT","chr3:69054341","c.465T>C(E7)","p.155,R>R","rs6781612",0.38,0.52,0.5,0.54,0.51,0.52,"纯合","无关","有rs号，MAF>=5%",null,"亚当斯-奥利弗综合征4型","AR",615297,5,1,2,1,"EOGT",1,330,"同义",13203,"1.00=291/291",null,285203,"3p14.1","NM_173654.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29658",50,50,1,{"$nulls":3},"A有","12309A","EPHA1","chr7:143093538","c.1837G>A(E11)","p.613,L>L","rs10952549",0.86,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"EPHA1",0.97,75,"同义",13203,"1.00=74/74",null,2041,"7q34","NM_005232.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6184",10,8,0.8,{"$nulls":3},"A有","12309A","EPPK1","chr8:144945386","c.2036G>A(E1)","p.679,A>V","rs142055364",0.0012,0.012,0.0048,0.019,0.011,0.006,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,4,0,"EPPK1",0.92,20,"错义",12110,"0.88=14/16",null,83481,"8q24.3","NM_031308.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9390",22,22,1,{"$nulls":3},"A有","12309A","ERCC1","chr19:45912343","m.1558A>G(E9)","非编码区","rs762562",0.29,0.44,0.45,0.42,0.39,0.45,"纯合","无关","有rs号，MAF>=5%",null,"脑额骨综合征4型","AR",610758,5,1,5,1,"ERCC1",1,75,"非编码区",14200,"0.97=35/36",null,2067,"19q13.32","NM_001166049.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22942",34,34,1,{"$nulls":3},"A有","12309A","ERCC6","chr10:50740876","c.135G>C(E2)","p.45,L>L","rs2228524",0.59,0.51,0.48,0.53,0.55,0.54,"纯合","无关","有rs号，MAF>=5%",null,"肺癌","AR",211980,5,1,4,6,"ERCC6",1,170,"同义",13203,"1.00=48/48",null,2074,"10q11.23","NM_000124.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27795",7,4,0.57,{"$nulls":3},"A有","12309A","ERI1","chr8:8860620","c.47T>C(E1)","p.16,L>P","rs2288672",0.84,0.73,0.73,0.72,0.6,0.72,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ERI1",1,220,"错义",12220,"0.44=4/9",null,90459,"8p23.1","NM_153332.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17202",4,4,1,{"$nulls":3},"A有","12309A","ESPNL","chr2:239039896","c.2541G>C(E9)","p.847,P>P","rs10182906",0.86,0.92,0.97,0.87,0.64,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ESPNL",0.83,7.9,"同义",13203,"1.00=7/7",null,339768,"2q37.3","NM_194312.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18983",30,12,0.4,{"$nulls":3},"A有","12309A","ESYT2","chr7:158526880","m.2766G>A(E22)","非编码区","rs3750051",0.29,0.53,0.54,0.52,0.46,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ESYT2",0.82,190,"非编码区",14200,"0.44=19/43",null,57488,"7q36.3","NM_020728.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14753",106,106,1,{"$nulls":3},"A有","12309A","ETS1","chr11:128333503","c.1143T>C(E9)","p.381,L>L","rs2230004",0.48,0.62,0.6,0.65,0.57,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ETS1",1,140,"同义",13203,"1.00=176/176",null,2113,"11q23.3","NM_001143820.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28201",11,4,0.36,{"$nulls":3},"A有","12309A","EVC2","chr4:5624670","c.1855T>C(E14)","p.619,T>A","rs730469",0.52,0.6,0.56,0.65,0.55,0.63,"杂合","无关","有rs号，MAF>=5%",null,"埃利伟氏综合症","AR",225500,5,3,4,1,"EVC2",0.97,100,"错义",12220,"0.28=5/18",null,132884,"4p16.2-p16.1","NM_001166136.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3279",260,260,1,{"$nulls":3},"A有","12309A","EXO1","chr1:242045275","c.2167C>T(E12)","p.723,R>C","rs1635498",0.92,0.84,0.83,0.84,0.82,0.87,"纯合","无关","有rs号，MAF>=5%","19331228;19515603;19846925;20337148;24763700",{"$nulls":3},5,null,5,0,"EXO1",1,270,"错义",12220,"1.00=481/483",null,9156,"1q42-q43","NM_003686.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30167",70,35,0.5,{"$nulls":3},"A有","12309A","EXPH5","chr11:108383676","c.2558A>G(E6)","p.853,L>P","rs10749920",0.36,0.18,0.2,0.17,0.23,0.2,"杂合","无关","有rs号，MAF>=5%",null,"非特异性大疱性表皮松解症","AR",615028,5,3,7,1,"EXPH5",1,150,"错义",12220,"0.53=48/91",null,23086,"11q22.3","NM_015065.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22261",59,22,0.37,{"$nulls":3},"A有","12309A","EZH1","chr17:40854534-40854535","m.2405(E21)至m.2404(E21):插入T","非编码区","rs397791272",0.48,0.43,0.47,0.38,0.069,0.5,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"EZH1",1,170,"非编码区",2420,"0.40=27/68",null,2145,"17q21.1-q21.3","NM_001991.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11455",74,74,1,{"$nulls":3},"A有","12309A","F5","chr1:169519049","c.1601T>C(E10)","p.534,Q>R","rs6025",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%","16846490;17048007;17107626;17677000;18513389;18752569;18936436;19131662;19263529;19330901;19415820;19536175;19538716;19559392;19591822;19786296;20031567;20352152;21291465;21332313;21422408;21564075;21659962;21955043;22388798;22421107;22540831;22672568;22707612;23018527;23132613;23150947;23274712;23533563;24485400;24816905;24908450","遗传性凝血因子V缺乏症","AR",227400,5,1,4,5,"F5",1,190,"错义",12230,"1.00=106/106",null,2153,"1q23","NM_000130.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18274",71,28,0.39,{"$nulls":3},"A有","12309A","FAHD2B","chr2:97749407","m.1181C>T(E8)","非编码区","rs79549240",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"FAHD2B",1,210,"非编码区",14300,"0.37=41/111",null,151313,"2q11.2","NM_199336.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13689",58,58,1,{"$nulls":3},"A有","12309A","FAM118A","chr22:45728370","c.716G>A(E7)","p.239,R>H","rs6007594",0.53,0.55,0.51,0.59,0.49,0.49,"纯合","无关","有rs号，MAF>=5%",18454203,{"$nulls":3},5,null,5,0,"FAM118A",1,100,"错义",12220,"1.00=94/94",null,55007,"22q13","NM_001104595.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17310",10,5,0.5,{"$nulls":3},"A有","12309A","FAM131C","chr1:16386008","c.543T>C(E6)","p.181,Q>Q","rs2863452",0.72,0.82,0.81,0.83,0.69,0.81,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"FAM131C",0.76,20,"同义",13203,"0.44=7/16",null,348487,"1p36.13","NM_182623.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2172",455,144,0.32,{"$nulls":3},"A有","12309A","FAM153B","chr5:175533585","c.623C>T(E15)","p.208,P>L","rs62389255",{"$nulls":4},0.47,0.027,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"FAM153B",1,660,"错义",12320,"0.27=239/871",null,202134,"5q35.2","NM_001265615.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27093",69,32,0.46,{"$nulls":3},"A有","12309A","FAM170A","chr5:118969960","c.376C>T(E2)","p.126,P>S","rs328694",0.44,0.51,0.51,0.51,0.5,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FAM170A",1,100,"错义",12210,"0.49=54/110",null,340069,"5q23.1","NM_001163991.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29684",6,3,0.5,{"$nulls":3},"A有","12309A","FAM179A","chr2:29246044","c.1604T>C(E12)","p.535,V>A","rs6721861",0.47,0.71,0.65,0.76,0.65,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FAM179A",1,52,"错义",12220,"0.36=4/11",null,165186,"2p23.2","NM_199280.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18508",24,13,0.54,{"$nulls":3},"A有","12309A","FAM187B","chr19:35719106","c.478A>G(E1)","p.160,C>R","rs565791",0.5,0.19,0.18,0.2,0.16,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FAM187B",1,39,"错义",12220,"0.45=15/33",null,148109,"19q13.12","NM_152481.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22327",2,2,1,{"$nulls":3},"A有","12309A","FAM198B","chr4:159048217","m.2333G>A(E6)","非编码区","rs4691455",0.82,0.93,0.94,0.93,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FAM198B",1,130,"非编码区",14200,"1.00=2/2",null,51313,"4q32.1","NM_001031700.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25740",100,47,0.47,{"$nulls":3},"A有","12309A","FAM217A","chr6:4069166","c.1291C>T(E7)","p.431,V>I","rs595413",0.55,0.61,0.57,0.66,0.61,0.62,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FAM217A",1,250,"错义",12220,"0.49=76/156",null,222826,"6p25.2","NM_173563.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11712",107,106,0.99,{"$nulls":3},"A有","12309A","FAM228A","chr2:24398446","IVS2+4A>T","剪切位点","rs2042468",0.62,0.76,0.78,0.73,0.7,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"FAM228A",1,160,"剪切位点",16201,"0.99=180/182",null,653140,"2p23.3","NM_001040710.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20931",32,32,1,{"$nulls":3},"A有","12309A","FAM69B","chr9:139616742","c.472A>G(E4)","p.158,S>G","rs945384",0.83,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",19061490,{"$nulls":3},5,null,1,0,"FAM69B",0.95,20,"错义",12220,"1.00=49/49",null,138311,"9q34.3","NM_152421.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26973",59,24,0.41,{"$nulls":3},"A有","12309A","FAM71F2","chr7:128315791","c.243C>G(E2)","p.81,V>V","rs61738927",0.34,0.54,0.59,0.49,0.49,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FAM71F2",1,150,"同义",13203,"0.41=38/92",null,346653,"7q32.1","NM_001012454.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22762",3,2,0.67,{"$nulls":3},"A有","12309A","FAM90A1","chr12:8374812","c.1001G>A(E7)","p.334,P>L","rs17855656",null,0.44,0.46,0.43,0.42,0.48,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,8,0,"FAM90A1",0.93,37,"错义",12310,"0.75=3/4",null,55138,"12p13.31","NM_018088.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31316",30,30,1,{"$nulls":3},"A有","12309A","FANCE","chr6:35423662","c.387A>C(E2)","p.129,P>P","rs4713867",0.78,0.7,0.64,0.77,0.64,0.68,"纯合","无关","有rs号，MAF>=5%",null,"范可尼贫血,互补E组","AR",600901,5,1,3,1,"FANCE",0.85,77,"同义",13203,"1.00=37/37",null,2178,"6p22-p21","NM_021922.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20490",150,150,1,{"$nulls":3},"A有","12309A","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=261/261",null,355,"10q24.1","NM_000043.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19302",116,115,0.99,{"$nulls":3},"A有","12309A","FAT1","chr4:187557893","c.3818T>C(E5)","p.1273,H>R","rs328418",0.65,0.71,0.7,0.71,0.69,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,31,0,"FAT1",1,150,"错义",12220,"0.98=185/189",null,2195,"4q35","NM_005245.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4702",70,69,0.99,{"$nulls":3},"A有","12309A","FAT2","chr5:150946966","c.1527G>A(E1)","p.509,P>P","rs1465690",0.87,0.81,0.87,0.75,0.75,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,24,0,"FAT2",1,100,"同义",13203,"0.99=99/100",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"]
["12309A(99)v151",72,36,0.5,{"$nulls":3},"A有","12309A","FAT4","chr4:126412575","c.14598A>G(E17)","p.4866,R>R","rs1014866",0.74,0.85,0.88,0.82,0.83,0.87,"杂合","无关","有rs号，MAF>=5%",null,"Van Maldergem综合征2型","AR",615546,5,3,12,2,"FAT4",1,140,"同义",13203,"0.48=55/114",null,79633,"4q28.1","NM_024582.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12604",77,42,0.55,{"$nulls":3},"A有","12309A","FBN2","chr5:127614472","c.7200A>G(E57)","p.2400,S>S","rs190450",0.73,0.87,0.87,0.86,0.85,0.87,"杂合","无关","有rs号，MAF>=5%",null,"早期发病的黄斑变性","AD",616118,5,1,4,2,"FBN2",1,230,"同义",13203,"0.54=53/99",null,2201,"5q23-q31","NM_001999.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27543",109,50,0.46,{"$nulls":3},"A有","12309A","FBXL13","chr7:102665620","c.385C>G(E6)","p.129,A>P","rs61749912",0.11,0.29,0.31,0.27,0.27,0.3,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FBXL13",1,280,"错义",12220,"0.47=92/195",null,222235,"7q22.1","NM_001111038.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25776",60,27,0.45,{"$nulls":3},"A有","12309A","FBXO30","chr6:146125793","c.1749A>T(E2)","p.583,H>Q","rs3811102",{"$nulls":4},0.26,0.25,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"FBXO30",1,140,"错义",12320,"0.44=44/101",null,84085,"6q24","NM_032145.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31037",9,5,0.56,{"$nulls":3},"A有","12309A","FCER2","chr19:7763703","c.57A>G(E2)","p.19,R>R","rs2287866",0.18,0.22,0.2,0.24,0.26,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"FCER2",1,58,"同义",13203,"0.47=9/19",null,2208,"19p13.3","NM_001207019.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8906",28,10,0.36,{"$nulls":3},"A有","12309A","FCGBP","chr19:40408857","IVS7-9T>C","剪切位点","rs4802064",0.71,0.45,0.44,0.47,null,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,19,0,"FCGBP",0.99,64,"剪切位点",16202,"0.42=16/38",null,8857,"19q13.1","NM_003890.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31557",214,94,0.44,{"$nulls":3},"A有","12309A","FCHO2","chr5:72347223","c.888A>G(E11)","p.296,T>T","rs7712838",0.3,0.49,0.52,0.47,0.44,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FCHO2",1,340,"同义",13203,"0.46=174/382",null,115548,"5q13.2","NM_001146032.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3069",148,147,0.99,{"$nulls":3},"A有","12309A","FECH","chr18:55221648","c.921T>C(E9)","p.307,P>P","rs536560",0.76,0.66,0.64,0.68,0.68,0.67,"纯合","无关","有rs号，MAF>=5%",null,"红细胞生成性原卟啉病","AD,AR",177000,5,1,2,1,"FECH",0.95,210,"同义",13203,"1.00=257/258",null,2235,"18q21.3","NM_000140.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30995",113,48,0.42,{"$nulls":3},"A有","12309A","FERMT1","chr20:6100088","c.114A>G(E2)","p.38,H>H","rs10373",0.52,0.38,0.39,0.36,0.33,0.38,"杂合","无关","有rs号，MAF>=5%",null,"Kindler综合征","AR",173650,5,3,5,1,"FERMT1",1,190,"同义",13203,"0.41=78/192",null,55612,"20p12.3","NM_017671.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7016",93,93,1,{"$nulls":3},"A有","12309A","FGD5","chr3:14965507","IVS16-8A>G","剪切位点","rs4685235",0.97,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"FGD5",1,73,"剪切位点",16202,"1.00=241/241",null,152273,"3p25.1","NM_152536.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13314",15,15,1,{"$nulls":3},"A有","12309A","FGFR2","chr10:123241496","m.2650T>C(E17)","非编码区","rs1649167",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"泪-耳-牙-指综合征","AD",149730,5,1,2,11,"FGFR2",1,180,"非编码区",14200,"1.00=16/16",null,2263,"10q26","NM_001144913.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9835",11,8,0.73,{"$nulls":3},"A有","12309A","FGFR4","chr5:176520430","c.1275C>T(E10)","p.425,S>S","rs201812753",0.0008,0.0024,0.0048,0,0.0091,0.0039,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"FGFR4",1,38,"同义",13103,"0.80=16/20",null,2264,"5q35.1-qter","NM_002011.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9855",218,94,0.43,{"$nulls":3},"A有","12309A","FHL5","chr6:97058574","c.631G>A(E5)","p.211,V>M","rs2252816",0.34,0.58,0.62,0.54,0.55,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"FHL5",1,230,"错义",12220,"0.43=184/423",null,9457,"6q16.1-q16.3","NM_001170807.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8504",74,73,0.99,{"$nulls":3},"A有","12309A","FIGLA","chr2:71012604","c.552G>A(E3)","p.184,H>H","rs7566541",0.8,0.94,0.93,0.95,0.92,0.91,"纯合","无关","有rs号，MAF>=5%",null,"卵巢早衰6型",null,612310,5,1,4,1,"FIGLA",0.65,170,"同义",13203,"0.98=120/122",null,344018,"2p13.3","NM_001004311.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21799",39,39,1,{"$nulls":3},"A有","12309A","FLJ44635","chrX:71380152","m.821C>T(E2)","非编码区","rs7881332",null,0.044,0.051,0.037,null,0.042,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"FLJ44635",1,100,"非编码区",14300,"1.00=55/55",null,392490,"Xq13.1","NM_207422.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12939",22,11,0.5,{"$nulls":3},"A有","12309A","FLNC","chr7:128480123","c.1458C>A(E9)","p.486,P>P","rs2291563",0.2,0.35,0.39,0.32,0.29,0.32,"杂合","无关","有rs号，MAF>=5%",null,"远端肌病4型","AD",614065,5,1,9,2,"FLNC",1,41,"同义",13203,"0.50=18/36",null,2318,"7q32-q35","NM_001127487.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14465",165,88,0.53,{"$nulls":3},"A有","12309A","FLT3","chr13:28610183","IVS10-3A>G","剪切位点","rs2491231",0.56,0.73,0.72,0.73,0.8,0.74,"杂合","无关","有rs号，MAF>=5%",null,"急性淋巴细胞白血病（易感）",null,613065,5,2,4,2,"FLT3",0.99,280,"剪切位点",16202,"0.53=145/275",null,2322,"13q12","NM_004119.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15823",22,6,0.27,{"$nulls":3},"A有","12309A","FMN2","chr1:240371075","c.2963C>T(E5)","p.988,P>L","rs71646825",{"$nulls":4},0.12,0.12,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"常染色体隐性遗传性精神发育迟滞47型","AR",616193,3,3,7,1,"FMN2",0.98,110,"错义",12320,"0.26=8/31",null,56776,"1q43","NM_020066.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9079",127,127,1,{"$nulls":3},"A有","12309A","FN1","chr2:216249587","c.4452C>T(E28)","p.1484,E>E","rs13652",0.87,1,1,1,0.95,1,"纯合","无关","有rs号，MAF>=5%",null,"血浆纤维结合蛋白缺乏症",null,614101,5,1,9,2,"FN1",1,180,"同义",13203,"1.00=196/196",null,2335,"2q34","NM_002026.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v512",93,21,0.23,{"$nulls":3},"A有","12309A","FNDC1","chr6:159660780-159660797","c.4412(E14)至c.4429(E14):缺失CCACC<8>CACGA","缺失非移码","rs141435210",0.5,0.43,0.4,0.45,0.041,0.66,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,15,0,"FNDC1",0.97,130,"缺失非移码",2221,"0.20=21/105",null,84624,"6q25","NM_032532.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23496",5,5,1,{"$nulls":3},"A有","12309A","FOXD4","chr9:118173-118173","m.245(E1):缺失C插入GG","非编码区","rs372898746",{"$nulls":4},0.0089,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"FOXD4",0.97,19,"非编码区",2430,"1.00=5/5",null,2298,"9p24.3","NM_207305.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18193",2,2,1,{"$nulls":3},"A有","12309A","FOXP2","chr7:113774064","otherG>C","非编码区","rs1597548",0.22,0.42,0.43,0.42,null,null,"纯合","无关","突变在基因上，但不属于任何转录变体",null,"言语语言障碍1型","AD",602081,5,1,3,1,"FOXP2",1,250,"非编码区",17000,"1.00=4/4",null,93986,"7q31","NM_001172766.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24035",125,67,0.54,{"$nulls":3},"A有","12309A","FRAS1","chr4:79372930","c.6468C>T(E46)","p.2156,H>H","rs753752",0.58,0.51,0.55,0.48,0.52,0.55,"杂合","无关","有rs号，MAF>=5%",null,"Fraser综合征","AR",219000,5,3,17,1,"FRAS1",1,160,"同义",13203,"0.51=116/229",null,80144,"4q21.21","NM_025074.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15527",4,2,0.5,{"$nulls":3},"A有","12309A","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,"Manitoba Oculotrichoanal综合征","AR",248450,5,3,7,3,"FREM1",1,190,"非编码区",14200,"0.60=3/5",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"]
["12309A(99)v7931",1047,279,0.27,{"$nulls":3},"A有","12309A","FRG2B","chr10:135440216","c.31G>A(E1)","p.11,H>Y","rs151005651",{"$nulls":4},0.5,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"FRG2B",1,650,"错义",12320,"0.28=679/2420",null,441581,"10q26.3","NM_001080998.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31670",3,3,1,{"$nulls":3},"A有","12309A","FRMD4B","chr3:69220684","m.3723G>C(E23)","非编码区","rs28529735",0.75,0.62,0.64,0.61,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"FRMD4B",1,220,"非编码区",14200,"1.00=7/7",null,23150,"3p14.1","NM_015123.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8868",95,48,0.51,{"$nulls":3},"A有","12309A","FSCB","chr14:44975511","c.680G>A(E1)","p.227,P>L","rs45478391",0.11,0.1,0.095,0.11,0.12,0.091,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"FSCB",1,90,"错义",12210,"0.49=65/134",null,84075,"14q21.2","NM_032135.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25247",75,31,0.41,{"$nulls":3},"A有","12309A","FTSJD1","chr16:71318577","c.1247T>C(E3)","p.416,N>S","rs3803704",0.28,0.22,0.18,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"FTSJD1",1,140,"错义",12220,"0.42=54/130",null,55783,"16q22.2","NM_001099642.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31257",20,20,1,{"$nulls":3},"A有","12309A","FUT5","chr19:5866736","c.1001T>C(E2)","p.334,H>R","rs778984",{"$nulls":4},0.77,0.87,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"FUT5",1,35,"错义",12320,"1.00=35/35",null,2527,"19p13.3","NM_002034.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4474",17,4,0.24,{"$nulls":3},"A有","12309A","FYCO1","chr3:46009864","c.962C>G(E8)","p.321,G>A","rs3733100",0.53,0.66,0.71,0.61,0.58,0.68,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传先天性白内障2型","AR",610019,5,3,7,1,"FYCO1",1,70,"错义",12220,"0.25=6/24",null,79443,"3p21.31","NM_024513.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24855",5,2,0.4,{"$nulls":3},"A有","12309A","GAA","chr17:78091405","c.2338G>A(E17)","p.780,V>I","rs1126690",0.71,0.66,0.67,0.65,0.49,0.62,"杂合","无关","有rs号，MAF>=5%",null,"庞贝氏症(Pompe)","AR",232300,5,3,9,1,"GAA",0.97,23,"错义",12220,"0.44=4/9",null,2548,"17q25.2-q25.3","NM_000152.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26500",16,16,1,{"$nulls":3},"A有","12309A","GABRD","chr1:1957037","c.330T>C(E4)","p.110,G>G","rs2229110",0.56,0.34,0.33,0.35,0.3,0.31,"纯合","无关","有rs号，MAF>=5%",null,"癫痫伴热性惊厥附加症5型(伴热性惊厥的全面性癫痫5型)/青少年肌阵挛性癫痫7型/特发性全面性癫痫易感10型","AD",613060,5,1,1,1,"GABRD",0.92,23,"同义",13203,"1.00=24/24",null,2563,"1p36.3","NM_000815.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18817",7,3,0.43,{"$nulls":3},"A有","12309A","GAL3ST4","chr7:99758136","c.876T>G(E4)","p.292,A>A","rs3800951",0.54,0.61,0.57,0.65,0.53,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GAL3ST4",1,41,"同义",13203,"0.43=3/7",null,79690,"7q22.1","NM_024637.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11485",99,99,1,{"$nulls":3},"A有","12309A","GALNT8","chr12:4830000","c.157T>G(E1)","p.53,Y>D","rs10849133",0.38,0.43,0.44,0.42,0.42,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"GALNT8",1,170,"错义",12220,"1.00=181/181",null,26290,"12p13.3","NM_017417.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19322",10,2,0.2,{"$nulls":3},"A有","12309A","GATA2","chr3:128204951","c.490C>T(E4)","p.164,A>T","rs2335052",0.23,0.38,0.37,0.4,0.38,0.38,"杂合","无关","有rs号，MAF>=5%","16934006;19369658;19706030;19864173","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",0.98,20,"错义",12220,"0.25=4/16",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"]
["12309A(99)v17910",182,96,0.53,{"$nulls":3},"A有","12309A","GBP4","chr1:89659086","c.373T>C(E4)","p.125,K>E","rs17130745",6.6E-3,0.041,0.048,0.034,0.035,0.05,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"GBP4",1,250,"错义",12110,"0.53=161/305",null,115361,"1p22.2","NM_052941.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24494",7,4,0.57,{"$nulls":3},"A有","12309A","GCK","chr7:44185088","IVS9+8G>A","非编码区","rs2908274",0.41,0.45,0.49,0.41,0.45,0.5,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,1,4,"GCK",0.95,52,"非编码区",16203,"0.62=5/8",null,2645,"7p15.3-p15.1","NM_000162.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10769",66,66,1,{"$nulls":3},"A有","12309A","GCOM1","chr15:57918090","c.525A>G(E5)","p.175,Q>Q","rs2958059",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GCOM1",0.95,240,"剪切位点",13202,"1.00=100/100",null,145781,"15q21.3","NM_001018090.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25555",45,45,1,{"$nulls":3},"A有","12309A","GDPGP1","chr15:90784250","c.110T>C(E4)","p.37,M>T","rs7171194",0.82,0.75,0.8,0.7,0.75,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GDPGP1",1,55,"错义",12220,"1.00=75/75",null,390637,"15q26.1","NM_001013657.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29023",7,2,0.29,{"$nulls":3},"A有","12309A","GFM1","chr3:158409482","m.2589C>T(E18)","非编码区","rs1047366",0.58,0.35,0.35,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",null,"联合氧化磷酸化缺陷1型","AR",609060,5,3,3,1,"GFM1",1,280,"非编码区",14200,"0.29=2/7",null,85476,"3q25","NM_024996.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30843",72,36,0.5,{"$nulls":3},"A有","12309A","GGNBP2","chr17:34942595","c.1608G>A(E12)","p.536,K>K","rs1106908",0.34,0.35,0.35,0.35,0.3,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GGNBP2",1,210,"同义",13203,"0.52=69/133",null,79893,"17q12","NM_024835.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22153",20,2,0.1,{"$nulls":3},"A有","12309A","GIMAP2","chr7:150390365","c.991G>T(E3)","p.331,E>X",{"$nulls":7},"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,2,0,"GIMAP2",1,120,"截断",15400,"0.19=5/26",null,26157,"7q36.1","NM_015660.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1155",83,36,0.43,{"$nulls":3},"A有","12309A","GJA9","chr1:39340862","c.909A>G(E2)","p.303,S>S","rs874243",0.1,0.16,0.15,0.17,0.12,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GJA9",1,140,"同义",13203,"0.40=47/117",null,81025,"1p34","NM_030772.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27408",4,4,1,{"$nulls":3},"A有","12309A","GLB1","chr3:33138544","c.34A>G(E1)","p.12,L>L","rs7614776",0.93,1,1,1,0.82,1,"纯合","无关","有rs号，MAF>=5%",null,"GM1神经节苷脂贮积病3型","AR",230650,5,1,3,4,"GLB1",1,150,"同义",13203,"1.00=8/8",null,2720,"3p21.33","NM_000404.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13741",101,46,0.46,{"$nulls":3},"A有","12309A","GLI3","chr7:42088222","c.547T>C(E5)","p.183,T>A","rs846266",0.6,0.58,0.59,0.56,0.59,0.56,"杂合","无关","有rs号，MAF>=5%","17029207;23028602;23549991","Pallister-Hall综合征1型","AD",146510,5,1,1,5,"GLI3",0.96,82,"错义",12220,"0.47=82/173",null,2737,"7p13","NM_000168.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6010",118,118,1,{"$nulls":3},"A有","12309A","GLRA3","chr4:175598334","c.822T>C(E7)","p.274,S>S","rs6812439",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GLRA3",1,280,"同义",13203,"1.00=211/211",null,8001,"4q34.1","NM_001042543.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28965",10,8,0.8,{"$nulls":3},"A有","12309A","GM2A","chr5:150632676","m.64A>G(E1)","非编码区","rs2277028",0.43,0.41,0.39,0.43,0.38,null,"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,"非编码区",14200,"0.79=11/14",null,2760,"5q33.1","NM_000405.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8531",2,2,1,{"$nulls":3},"A有","12309A","GNAS","chr20:57415110","m.316A>G(E1)","非编码区","rs1800900",0.6,0.81,0.79,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",null,"假性甲状旁腺功能减退症1a型","AD",103580,5,1,1,8,"GNAS",0.9,53,"非编码区",14200,"1.00=2/2",null,2778,"20q13.3","NM_016592.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29070",41,21,0.51,{"$nulls":3},"A有","12309A","GNG4","chr1:235747154","IVS2-6A>G","剪切位点","rs2774336",0.49,0.78,0.79,0.77,null,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GNG4",1,130,"剪切位点",16202,"0.48=31/64",null,2786,"1q42.3","NM_001098721.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31420",41,11,0.27,{"$nulls":3},"A有","12309A","GOLGA6A","chr15:74368293","c.598A>G(E8)","p.200,W>R","rs2018461",0.094,0.13,0.16,0.11,0.16,0.029,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"GOLGA6A",1,320,"错义",12220,"0.25=17/68",null,342096,"15q24.1","NM_001038640.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v97",33,12,0.36,{"$nulls":3},"A有","12309A","GP1BA","chr17:4835895","m.71T>C(E2)","非编码区","rs2243093",0.19,0.25,0.28,0.21,0.23,0.27,"杂合","无关","有rs号，MAF>=5%",null,"假性血管性血友病/出血性疾病，血小板3型","AD",177820,5,1,4,4,"GP1BA",1,66,"非编码区",14200,"0.38=20/52",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"]
["12309A(99)v5094",3,3,1,{"$nulls":3},"A有","12309A","GP6","chr19:55525497","c.1816A>G(E8)","p.606,F>L","rs1671150",0.73,0.86,0.84,0.88,0.7,0.84,"纯合","无关","有rs号，MAF>=5%",null,"出血性疾病，血小板11型/血小板膜糖蛋白6缺乏症","AR",614201,5,1,11,1,"GP6",1,66,"错义",12220,"1.00=3/3",null,51206,"19q13.4","NM_001083899.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30707",51,51,1,{"$nulls":3},"A有","12309A","GPC2","chr7:99772298","IVS4+10A>C","非编码区","rs10252037",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GPC2",0.82,51,"非编码区",16203,"0.99=85/86",null,221914,"7q22.1","NM_152742.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21019",85,85,1,{"$nulls":3},"A有","12309A","GPR112","chrX:135426968","c.1103C>A(E6)","p.368,P>H","rs5930931",null,0.27,0.25,0.3,0.29,0.27,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,10,0,"GPR112",1,110,"错义",12320,"1.00=142/142",null,139378,"Xq26.3","NM_153834.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21628",8,5,0.62,{"$nulls":3},"A有","12309A","GPR149","chr3:154146922","c.483A>G(E1)","p.161,S>S","rs34792862",0.16,0.21,0.22,0.2,0.19,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GPR149",1,120,"同义",13203,"0.79=11/14",null,344758,"3q25.2","NM_001038705.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23443",6,6,1,{"$nulls":3},"A有","12309A","GPR156","chr3:119886548","c.1764G>C(E9)","p.588,L>L","rs9858566",0.9,0.92,0.92,0.93,0.81,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GPR156",1,100,"同义",13203,"1.00=7/7",null,165829,"3q13.33","NM_001168271.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31508",73,73,1,{"$nulls":3},"A有","12309A","GPR39","chr2:133174764","c.149C>T(E1)","p.50,A>V","rs2241764",0.38,0.25,0.25,0.25,0.19,0.23,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GPR39",1,63,"错义",12220,"1.00=107/107",null,2863,"2q21-q22","NM_001508.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v44",106,105,0.99,{"$nulls":3},"A有","12309A","GPR98","chr5:90449031","IVS88-7T>C","剪切位点","rs7726023",0.9,0.86,0.87,0.84,0.85,0.9,"纯合","无关","有rs号，MAF>=5%",null,"家族性热性惊厥4型","AD",604352,5,1,18,2,"GPR98",1,230,"剪切位点",16201,"0.99=134/135",null,84059,"5q13","NM_032119.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7408",67,26,0.39,{"$nulls":3},"A有","12309A","GPRIN3","chr4:90169925","c.1337A>G(E2)","p.446,V>A","rs7653897",0.62,0.57,0.54,0.6,0.59,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"GPRIN3",1,70,"错义",12220,"0.43=45/104",null,285513,"4q22.1","NM_198281.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4506",55,55,1,{"$nulls":3},"A有","12309A","GRB7","chr17:37898543","c.58T>C(E2)","p.20,C>R","rs2952142",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GRB7",0.99,52,"错义",12230,"1.00=86/86",null,2886,"17q12","NM_001242442.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21290",61,37,0.61,{"$nulls":3},"A有","12309A","GRIN2B","chr12:14018777","c.366G>C(E2)","p.122,P>P","rs7301328",0.44,0.45,0.42,0.48,0.46,0.48,"杂合","无关","有rs号，MAF>=5%","19911060;20537720;23070074;23408766;24114429;24292895","常染色体显性遗传性精神智力发育迟滞6型",null,613970,5,2,2,2,"GRIN2B",1,110,"同义",13203,"0.61=62/102",null,2904,"12p12","NM_000834.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31696",50,27,0.54,{"$nulls":3},"A有","12309A","GRIP2","chr3:14583420","c.169G>A(E1)","p.57,P>S","rs139005453",2E-3,0.014,0.0048,0.024,null,0.026,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,12,0,"GRIP2",1,45,"错义",12120,"0.57=41/72",null,80852,"3p24-p23","NM_001080423.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12543",266,143,0.54,{"$nulls":3},"A有","12309A","GRM8","chr7:126542667","c.1085A>T(E5)","p.362,F>Y","rs78124913",0.12,0.25,0.25,0.24,0.22,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GRM8",1,190,"错义",12220,"0.54=258/475",null,2918,"7q31.3-q32.1","NM_000845.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23832",9,9,1,{"$nulls":3},"A有","12309A","GSTT1","chr22:24376322","m.877G>A(E5)","非编码区","rs4630",0.76,0.87,0.88,0.85,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"GSTT1",1,31,"非编码区",14200,"1.00=11/11",null,2952,"22q11.23","NM_000853.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23448",160,159,0.99,{"$nulls":3},"A有","12309A","GTF3C6","chr6:111283592","IVS4-3C>T","剪切位点","rs9374227",0.35,0.62,0.63,0.62,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"GTF3C6",1,200,"剪切位点",16202,"1.00=298/299",null,112495,"6q21","NM_138408.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8748",110,109,0.99,{"$nulls":3},"A有","12309A","GUCY2C","chr12:14829893","c.843A>C(E7)","p.281,F>L","rs1420635",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性腹泻6型/先天性早发型慢性腹泻6型","AD",614616,5,1,2,2,"GUCY2C",1,280,"错义",12210,"0.99=182/183",null,2984,"12p12","NM_004963.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10546",11,11,1,{"$nulls":3},"A有","12309A","GYS2","chr12:21689736","m.2519G>A(E16)","非编码区","rs936",0.53,0.72,0.74,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",null,"糖原累积症0型(肝)","AR",240600,5,1,2,1,"GYS2",1,290,"非编码区",14200,"1.00=14/14",null,2998,"12p12.2","NM_021957.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26837",6,6,1,{"$nulls":3},"A有","12309A","H2AFV","chr7:44873800","m.842T>C(E5)","非编码区","rs12673630",0.19,0.3,0.29,0.31,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"H2AFV",0.99,250,"非编码区",14200,"1.00=7/7",null,94239,"7p13","NM_012412.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12876",154,66,0.43,{"$nulls":3},"A有","12309A","HAUS6","chr9:19093288","c.317C>G(E4)","p.106,S>T","rs145443951",0.0034,0.0072,0.0095,0.0049,null,0.0065,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"HAUS6",1,240,"错义",12120,"0.42=103/246",null,54801,"9p22.1","NM_001270890.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28534",4,3,0.75,{"$nulls":3},"A有","12309A","HCAR3","chr12:123199826","m.1614C>G(E1)","非编码区","rs61955032",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,10,0,"HCAR3",1,110,"非编码区",14300,"0.80=4/5",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"]
["12309A(99)v6558",10,10,1,{"$nulls":3},"A有","12309A","HCN2","chr19:613898","c.1872T>C(E7)","p.624,A>A","rs1054786",0.82,0.87,0.86,0.88,0.81,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HCN2",0.68,27,"同义",13203,"1.00=15/15",null,610,"19p13.3","NM_001194.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21938",131,60,0.46,{"$nulls":3},"A有","12309A","HEATR1","chr1:236746443","c.2295C>T(E18)","p.765,V>V","rs2794768",0.52,0.65,0.67,0.63,0.63,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,19,0,"HEATR1",1,270,"同义",13203,"0.40=81/203",null,55127,"1q43","NM_018072.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29637",141,141,1,{"$nulls":3},"A有","12309A","HEATR7B2","chr5:41049389","c.1494T>C(E14)","p.498,T>T","rs325863",0.81,0.68,0.67,0.68,0.64,0.66,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"HEATR7B2",1,220,"同义",13203,"1.00=247/247",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"]
["12309A(99)v19952",106,48,0.45,{"$nulls":3},"A有","12309A","HECW1","chr7:43506059","c.2805A>G(E15)","p.935,E>E","rs2304329",0.56,0.38,0.36,0.39,0.38,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"HECW1",0.99,130,"同义",13203,"0.43=74/174",null,23072,"7p13","NM_015052.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21307",2,2,1,{"$nulls":3},"A有","12309A","HELZ2","chr20:62190402","m.9039T>C(E20)","非编码区","rs4809581",0.39,0.22,0.17,0.26,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,15,0,"HELZ2",0.88,9.1,"非编码区",14200,"1.00=2/2",{"$nulls":3},"NM_001037335.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25930",135,64,0.47,{"$nulls":3},"A有","12309A","HERC1","chr15:63922752","c.12879T>A(E69)","p.4293,I>I","rs10851731",0.64,0.12,0.11,0.12,0.1,0.086,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"HERC1",1,210,"同义",13203,"0.48=110/228",null,8925,"15q22","NM_003922.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7333",193,192,0.99,{"$nulls":3},"A有","12309A","HERC4","chr10:69773841","c.1011G>A(E9)","p.337,S>S","rs866255",0.52,0.83,0.84,0.83,0.84,0.85,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,1,0,"HERC4",1,350,"同义",13203,"0.99=324/326",null,26091,"10q21.3","NM_015601.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31405",86,86,1,{"$nulls":3},"A有","12309A","HGSNAT","chr8:43054553","c.1749T>C(E18)","p.583,Y>Y","rs1126058",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"粘多糖贮积症IIIC型/Sanfilippo综合征C型","AR",252930,5,1,1,1,"HGSNAT",0.94,210,"同义",13203,"1.00=153/153",null,138050,"8p11.1","NM_152419.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14541",48,25,0.52,{"$nulls":3},"A有","12309A","HIST1H2AK","chr6:27805896","c.222G>C(E1)","p.74,N>K","rs371861857",0.0002,0,0,0,0.0011,0.0031,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"HIST1H2AK",1,55,"错义",12110,"0.52=37/71",null,8330,"6p22.1","NM_003510.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7520",149,60,0.4,{"$nulls":3},"A有","12309A","HIST2H2BF","chr1:149783572","c.307G>A(E1)","p.103,L>L","rs201612388",0.0036,0.022,0.029,0.015,0.023,0.033,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"HIST2H2BF",1,270,"同义",13103,"0.42=90/214",null,440689,"1q21.2","NM_001024599.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31216",10,10,1,{"$nulls":3},"A有","12309A","HIVEP3","chr1:41976017","m.8338C>T(E8)","非编码区","rs678110",0.63,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"HIVEP3",1,49,"非编码区",14200,"1.00=13/13",null,59269,"1p34","NM_001127714.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5257",37,37,1,{"$nulls":3},"A有","12309A","HLA-A","chr6:29912856","c.1033A>T(E6)","p.345,T>S","rs2231119",0.69,0.64,0.64,0.64,0.64,0.69,"纯合","无关","有rs号，MAF>=5%",null,"严重皮肤副反应易感",null,608579,5,1,18,1,"HLA-A",0.97,29,"错义",12220,"1.00=52/52",null,3105,"6p21.3","NM_001242758.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23218",4,4,1,{"$nulls":3},"A有","12309A","HLA-B","chr6:31324742","IVS1-8T>C","剪切位点",null,null,0.94,0.96,0.93,0.92,0.93,"纯合","未知","剪切位点预测结果为无害",null,"强直性脊柱炎易感1型",null,106300,4,1,14,2,"HLA-B",0.88,34,"剪切位点",16402,"1.00=4/4",null,3106,"6p21.3","NM_005514.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3564",10,6,0.6,{"$nulls":3},"A有","12309A","HLA-C","chr6:31238942","c.527G>A(E3)","p.176,A>V",null,null,0.25,0.25,0.25,0.22,0.3,"杂合","未知","蛋白结构预测结果为容忍或无害",null,"银屑病易感1型",null,177900,3,2,14,2,"HLA-C",1,38,"错义",12420,"0.58=7/12",null,3107,"6p21.3","NM_002117.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28562",24,14,0.58,{"$nulls":3},"A有","12309A","HLA-DQB1","chr6:32627795","m.1110A>G(E6)","非编码区","rs1766",0.45,0.54,0.51,0.56,null,null,"杂合","无关","有rs号，MAF>=5%",null,"Creutzfeldt-Jakob病","AD",123400,5,1,23,3,"HLA-DQB1",0.98,88,"非编码区",14200,"0.48=14/29",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"]
["12309A(99)v28576",122,122,1,{"$nulls":3},"A有","12309A","HLA-DQB1","chr6:32629847","c.558A>G(E3)","p.186,T>T","rs1049133",0.83,0.89,0.91,0.87,0.84,0.9,"纯合","无关","有rs号，MAF>=5%",null,"乳糜泻","AR",212750,5,1,23,3,"HLA-DQB1",0.98,88,"同义",13203,"1.00=220/220",null,3119,"6p21.3","NM_001243961.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28572",46,39,0.85,{"$nulls":3},"A有","12309A","HLA-DQB1","chr6:32634426","m.41G>A(E1)","非编码区","rs67147537",0.21,0.17,0.18,0.17,0.14,0.19,"纯合","无关","有rs号，MAF>=5%",null,"Creutzfeldt-Jakob病","AD",123400,5,1,23,3,"HLA-DQB1",0.98,88,"非编码区",14200,"0.86=55/64",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"]
["12309A(99)v7307",51,38,0.75,{"$nulls":3},"A有","12309A","HLA-DRB1","chr6:32557423","c.97G>T(E1)","p.33,R>R","rs9256943",0.22,0.24,0.25,0.22,0.12,0.21,"杂合","无关","有rs号，MAF>=5%",null,"风湿性关节炎（易感）",null,180300,5,2,15,3,"HLA-DRB1",1,90,"同义",13203,"0.72=49/68",null,3123,"6p21.3","NM_002124.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8090",14,6,0.43,{"$nulls":3},"A有","12309A","HLX","chr1:221057662","c.1083G>A(E4)","p.361,E>E","rs3738182",0.19,0.06,0.067,0.053,0.074,0.065,"杂合","无关","有rs号，MAF>=5%",19459883,{"$nulls":3},5,null,2,0,"HLX",0.89,32,"同义",13203,"0.55=12/22",null,3142,"1q41","NM_021958.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6200",5,3,0.6,{"$nulls":3},"A有","12309A","HNF1A","chr12:121435342","c.1375C>T(E7)","p.459,L>L","rs2259820",0.32,0.47,0.48,0.47,0.43,0.49,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,2,6,"HNF1A",0.98,37,"同义",13203,"0.73=8/11",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"]
["12309A(99)v15550",4,4,1,{"$nulls":3},"A有","12309A","HNRNPH2","chrX:100668489","m.1741T>G(E2)","非编码区","rs41307260",null,0.11,0.11,0.1,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"HNRNPH2",1,60,"非编码区",14300,"1.00=4/4",null,3188,"Xq22","NM_001032393.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11254",15,8,0.53,{"$nulls":3},"A有","12309A","HOXD3","chr2:177034121","c.279G>T(E2)","p.93,P>P","rs34729309",0.18,0.014,0.019,0.0097,0.028,0.026,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HOXD3",1,33,"同义",13203,"0.53=8/15",null,3232,"2q31.1","NM_006898.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24684",11,11,1,{"$nulls":3},"A有","12309A","HPS4","chr22:26877981","m.416G>A(E2)","非编码区","rs3747134",0.79,0.79,0.83,0.76,0.77,null,"纯合","无关","有rs号，MAF>=5%",null,"Hermansky-Pudlak综合征4型","AR",614073,5,1,7,1,"HPS4",1,110,"非编码区",14200,"1.00=12/12",null,89781,"22cen-q12.3","NM_022081.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10127",138,65,0.47,{"$nulls":3},"A有","12309A","HRNR","chr1:152187945","c.6160C>T(E3)","p.2054,G>S","rs61814939",{"$nulls":4},0.33,0.1,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,33,0,"HRNR",0.99,230,"错义",12320,"0.45=96/211",null,388697,"1q21.3","NM_001009931.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17042",37,37,1,{"$nulls":3},"A有","12309A","HS1BP3","chr2:20838318","c.501G>A(E4)","p.167,F>F","rs3796064",0.36,0.58,0.61,0.55,0.57,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"HS1BP3",0.97,46,"同义",13203,"1.00=56/56",null,64342,"2p24.1","NM_022460.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25545",26,24,0.92,{"$nulls":3},"A有","12309A","HSD17B7","chr1:162760551","m.56C>T(E1)","非编码区","rs1704754",0.53,0.57,0.56,0.58,null,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"HSD17B7",1,220,"非编码区",14200,"0.89=31/35",null,51478,"1q23","NM_016371.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21318",14,8,0.57,{"$nulls":3},"A有","12309A","HSPA6","chr1:161495040","c.592C>T(E1)","p.198,L>F","rs63749092",0.12,0.25,0.26,0.24,0.18,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"HSPA6",1,33,"错义",12210,"0.58=14/24",null,3310,"1q23","NM_002155.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27328",3,3,1,{"$nulls":3},"A有","12309A","HTR2A","chr13:47470352","m.421C>T(E2)","非编码区","rs6310",0.91,1,1,1,0.97,null,"纯合","无关","有rs号，MAF>=5%",null,"酒精依赖症",null,103780,5,1,3,5,"HTR2A",1,140,"非编码区",14200,"1.00=4/4",null,3356,"13q14-q21","NM_000621.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27329",103,103,1,{"$nulls":3},"A有","12309A","HTR2A","chr13:47470824","c.145C>T(E1)","p.49,D>N","rs6312",0.92,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",18330705,"酒精依赖症",null,103780,5,1,3,5,"HTR2A",1,140,"错义",12220,"0.99=184/185",null,3356,"13q14-q21","NM_001165947.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29407",76,35,0.46,{"$nulls":3},"A有","12309A","HYDIN","chr16:70954571","c.7708C>T(E46)","p.2570,D>N","rs8044001",{"$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",608647,3,3,58,1,"HYDIN",1,370,"错义",12320,"0.47=55/116",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"]
["12309A(99)v29392",301,144,0.48,{"$nulls":3},"A有","12309A","HYDIN","chr16:71065560","m.2906C>T(E19)","非编码区","rs6499399",{"$nulls":5},0,"杂合","未知","UTR突变可能影响蛋白翻译",null,"原发性纤毛运动障碍5型","AR",608647,3,3,58,1,"HYDIN",1,370,"非编码区",14300,"0.48=269/558",null,54768,"16q22.2","NM_001198542.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27315",7,7,1,{"$nulls":3},"A有","12309A","IDE","chr10:94268232-94268232","UTR:缺失A","非编码区","rs11286004",0.36,0.68,0.72,0.65,0,null,"纯合","无关","不在基因上的突变",{"$nulls":4},5,null,1,0,"IDE",1,270,"非编码区",2600,"1.00=7/7",null,3416,"10q23-q25","NM_001165946.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23191",149,74,0.5,{"$nulls":3},"A有","12309A","IER3IP1","chr18:44682490","m.404A>G(E3)","非编码区","rs150586939",0.02,0.12,0.15,0.1,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"新生儿糖尿病伴小头畸形、癫痫","AR",614231,3,3,2,1,"IER3IP1",1,290,"非编码区",14100,"0.51=133/262",null,51124,"18q12","NM_016097.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21264",48,48,1,{"$nulls":3},"A有","12309A","IFLTD1","chr12:25706134","m.84G>A(E1)","非编码区","rs829047",0.62,0.68,0.66,0.7,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"IFLTD1",1,240,"非编码区",14200,"1.00=69/69",null,160492,"12p12.1","NM_001145728.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1371",202,104,0.51,{"$nulls":3},"A有","12309A","IFNAR1","chr21:34715699","c.502G>C(E4)","p.168,V>L","rs2257167",0.23,0.35,0.37,0.34,0.31,0.36,"杂合","无关","有rs号，MAF>=5%","15657875;17668374;19103527;19434718;20811626",{"$nulls":3},5,null,1,0,"IFNAR1",1,330,"错义",12220,"0.49=174/353",null,3454,"21q22.11","NM_000629.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30295",19,19,1,{"$nulls":3},"A有","12309A","IGDCC4","chr15:65676726","c.3374C>T(E20)","p.1125,C>Y","rs33918653",0.23,0.45,0.49,0.41,0.44,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"IGDCC4",0.92,37,"错义",12210,"1.00=33/33",null,57722,"15q22.31","NM_020962.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9709",24,11,0.46,{"$nulls":3},"A有","12309A","IGFN1","chr1:201177278","c.3257C>T(E12)","p.1086,A>V","rs7551098",0.31,0.33,0.35,0.32,0.38,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,35,0,"IGFN1",1,120,"错义",12220,"0.41=14/34",null,91156,"1q32.1","NM_001164586.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9705",204,91,0.45,{"$nulls":3},"A有","12309A","IGFN1","chr1:201180084","c.6063G>T(E12)","p.2021,G>G","rs61396495",{"$nulls":4},0.39,0.33,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,35,0,"IGFN1",1,120,"同义",13303,"0.48=179/370",null,91156,"1q32.1","NM_001164586.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11912",22,22,1,{"$nulls":3},"A有","12309A","IGSF22","chr11:18735947","c.1675T>C(E13)","p.559,M>V","rs7125943",0.76,0.81,0.85,0.77,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"IGSF22",1,83,"错义",12220,"1.00=37/37",null,283284,"11p15.1","NM_173588.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17140",5,5,1,{"$nulls":3},"A有","12309A","IGSF9","chr1:159898100","c.3078A>G(E19)","p.1026,S>S","rs3747615",0.5,0.68,0.65,0.71,0.55,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"IGSF9",1,37,"同义",13203,"1.00=5/5",null,57549,"1q22-q23","NM_001135050.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10579",10,10,1,{"$nulls":3},"A有","12309A","IKBKB","chr8:42188550","m.2387A>G(E21)","非编码区","rs1057741",0.95,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"免疫缺陷15型","AR",615592,5,1,1,1,"IKBKB",0.96,120,"非编码区",14200,"1.00=11/11",null,3551,"8p11.2","NM_001190720.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17508",5,5,1,{"$nulls":3},"A有","12309A","IL18","chr11:112014089","m.1020T>C(E5)","非编码区","rs360727",0.95,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"IL18",1,280,"非编码区",14200,"1.00=6/6",null,3606,"11q22.2-q22.3","NM_001243211.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11167",6,6,1,{"$nulls":3},"A有","12309A","IL1RN","chr2:113890586","m.744C>G(E5)","非编码区","rs315951",0.36,0.59,0.61,0.56,null,null,"纯合","无关","有rs号，MAF>=5%",null,"糖尿病微血管并发症,易感4型",null,612628,5,1,6,3,"IL1RN",1,110,"非编码区",14200,"1.00=6/6",null,3557,"2q14.2","NM_000577.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12996",114,54,0.47,{"$nulls":3},"A有","12309A","IL31RA","chr5:55206444","c.1529G>A(E12)","p.510,S>N","rs161704",0.31,0.31,0.26,0.37,0.32,0.33,"杂合","无关","有rs号，MAF>=5%",null,"原发性限局性皮肤淀粉样变2",null,613955,5,2,3,1,"IL31RA",0.98,240,"错义",12220,"0.46=99/215",null,133396,"5q11.2","NM_001242636.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7212",12,5,0.42,{"$nulls":3},"A有","12309A","ILVBL","chr19:15227030","c.1404G>A(E12)","p.468,G>G","rs2074263",0.63,0.56,0.47,0.66,0.53,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ILVBL",1,36,"同义",13203,"0.33=7/21",null,10994,"19p13.1","NM_006844.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27372",87,87,1,{"$nulls":3},"A有","12309A","INADL","chr1:62579823","c.4560G>A(E35)","p.1520,E>E","rs1475563",0.61,0.77,0.79,0.75,0.81,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"INADL",1,260,"同义",13203,"1.00=159/159",null,10207,"1p31.3","NM_176877.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8828",100,99,0.99,{"$nulls":3},"A有","12309A","INO80D","chr2:206911228","c.1073G>A(E5)","p.358,A>V","rs2909111",0.39,0.48,0.46,0.5,0.44,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"INO80D",1,120,"错义",12220,"0.99=151/153",null,54891,"2q33.3","NM_017759.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25949",178,90,0.51,{"$nulls":3},"A有","12309A","INPP5F","chr10:121551581","c.645A>C(E5)","p.215,A>A","rs2289306",0.41,0.22,0.25,0.18,null,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"INPP5F",0.96,240,"同义",13203,"0.49=120/244",null,22876,"10q26.11","NM_001243195.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18992",87,87,1,{"$nulls":3},"A有","12309A","INTS2","chr17:59955426","c.2302T>G(E18)","p.768,N>H","rs606072",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"INTS2",1,260,"错义",12230,"1.00=141/141",null,57508,"17q23.2","NM_020748.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10558",34,8,0.24,{"$nulls":3},"A有","12309A","IQCE","chr7:2649704","c.1948T>G(E21)","p.650,L>V","rs3735109",{"$nulls":4},0.48,0.51,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"IQCE",0.96,64,"错义",12320,"0.23=12/53",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"]
["12309A(99)v10179",208,117,0.56,{"$nulls":3},"A有","12309A","IRAK1BP1","chr6:79595167-79595168","IVS2+7至IVS2+8:插入CTTAT","非编码区","rs146020132",null,0.92,0.9,0.94,0.11,0.9,"杂合","无关","内含子突变",{"$nulls":4},5,null,1,0,"IRAK1BP1",1,230,"非编码区",2500,"0.56=145/260",null,134728,"6q14-q15","NM_001010844.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12963",10,5,0.5,{"$nulls":3},"A有","12309A","ISOC2","chr19:55966346","IVS5+10C>T","非编码区","rs2277959",0.4,0.36,0.32,0.39,null,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ISOC2",0.99,27,"非编码区",16203,"0.50=7/14",null,79763,"19q13.42","NM_001136201.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23159",128,127,0.99,{"$nulls":3},"A有","12309A","ITGA11","chr15:68649587","c.651G>A(E7)","p.217,N>N","rs12907890",0.88,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ITGA11",1,80,"同义",13203,"0.99=200/202",null,22801,"15q23","NM_001004439.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16264",24,8,0.33,{"$nulls":3},"A有","12309A","ITGA3","chr17:48151908","IVS10+10T>C","非编码区","rs4793639",0.76,0.54,0.53,0.56,0.59,0.55,"杂合","无关","有rs号，MAF>=5%",null,"间质性肺疾病,肾病综合征和先天性大庖性表皮松解症",null,614748,5,2,1,1,"ITGA3",1,67,"非编码区",16203,"0.35=15/43",null,3675,"17q21.33","NM_002204.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20356",43,17,0.4,{"$nulls":3},"A有","12309A","ITGB4","chr17:73753661","m.5681C>T(E40)","非编码区","rs9367",0.65,0.51,0.53,0.48,0.47,0.56,"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",131800,5,1,3,3,"ITGB4",0.96,32,"非编码区",14200,"0.46=31/68",null,3691,"17q25","NM_000213.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30252",22,22,1,{"$nulls":3},"A有","12309A","ITPA","chr20:3204084","c.438G>A(E6)","p.146,E>E","rs9101",0.34,0.5,0.51,0.48,0.43,0.5,"纯合","无关","有rs号，MAF>=5%",null,"次黄苷三磷酸酶(肌苷三磷酸酶)缺陷",null,613850,5,1,5,1,"ITPA",1,74,"同义",13203,"1.00=36/36",null,3704,"20p","NM_001267623.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21380",40,40,1,{"$nulls":3},"A有","12309A","ITPR1","chr3:4856234","c.7545G>A(E55)","p.2515,K>K","rs901854",0.59,0.74,0.76,0.72,0.7,0.72,"纯合","无关","有rs号，MAF>=5%",20437544,"脊髓小脑性共济失调15型（包括原16型）（属于ADCA III型）","AD",606658,5,1,5,2,"ITPR1",1,180,"同义",13203,"1.00=53/53",null,3708,"3p26.1","NM_001099952.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23258",78,35,0.45,{"$nulls":3},"A有","12309A","JAK1","chr1:65335095","c.546T>C(E6)","p.182,G>G","rs11585932",0.035,0.014,0.014,0.015,0.013,0.0094,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"JAK1",1,180,"同义",13103,"0.44=51/117",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"]
["12309A(99)v3380",91,91,1,{"$nulls":3},"A有","12309A","JAKMIP3","chr10:133954011","c.1401C>T(E9)","p.467,D>D","rs2818387",0.51,0.56,0.58,0.54,0.54,0.55,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"JAKMIP3",1,56,"同义",13203,"1.00=143/143",null,282973,"10q26.3","NM_001105521.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17295",22,13,0.59,{"$nulls":3},"A有","12309A","JRK","chr8:143740167","m.2287A>G(E3)","非编码区","rs1056012",0.49,0.5,0.46,0.55,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"JRK",1,22,"非编码区",14200,"0.64=18/28",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"]
["12309A(99)v17746",9,5,0.56,{"$nulls":3},"A有","12309A","KANK4","chr1:62713246","c.2781G>A(E9)","p.927,H>H","rs10889315",0.32,0.15,0.12,0.19,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"KANK4",1,63,"同义",13203,"0.54=7/13",null,163782,"1p31.3","NM_181712.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15589",69,39,0.57,{"$nulls":3},"A有","12309A","KBTBD12","chr3:127703085","c.1836G>A(E5)","p.612,P>P","rs13100951",0.22,0.32,0.31,0.33,0.29,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KBTBD12",1,170,"同义",13203,"0.56=69/124",null,166348,"3q21.3","NM_207335.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19853",8,8,1,{"$nulls":3},"A有","12309A","KCNE4","chr2:223917983","c.435T>G(E2)","p.145,D>E","rs12621643",0.67,0.69,0.71,0.66,0.61,0.69,"纯合","无关","有rs号，MAF>=5%","19684603;24705329",{"$nulls":3},5,null,4,0,"KCNE4",1,15,"错义",12220,"1.00=11/11",null,23704,"2q36.1","NM_080671.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22878",86,40,0.47,{"$nulls":3},"A有","12309A","KCNIP4","chr4:20852166","c.213A>G(E2)","p.71,N>N","rs3765121",0.35,0.4,0.43,0.36,0.4,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KCNIP4",1,220,"剪切位点",13202,"0.49=62/127",null,80333,"4p15.32","NM_001035003.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24771",187,55,0.29,{"$nulls":3},"A有","12309A","KCNJ13","chr2:233641209-233641210","m.67(E1)至m.66(E1):缺失AG","非编码区","rs5839447",0.13,0.19,0.2,0.17,0.1,0.23,"杂合","未知","有rs号，MAF>=5%的UTR突变",null,"Leber先天性黑蒙16型","AR",614186,4,3,2,2,"KCNJ13",1,160,"非编码区",2420,"0.30=65/220",null,3769,"2q37","NM_001172416.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28908",14,7,0.5,{"$nulls":3},"A有","12309A","KCNMB1","chr5:169805630","m.1054G>T(E4)","非编码区","rs2656842",0.41,0.36,0.39,0.33,null,null,"杂合","无关","有rs号，MAF>=5%",null,"舒张期高血压抵抗","AD",608622,5,1,3,1,"KCNMB1",1,86,"非编码区",14200,"0.59=10/17",null,3779,"5q34","NM_004137.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14153",235,118,0.5,{"$nulls":3},"A有","12309A","KCNT2","chr1:196438115","IVS6+9A>T","非编码区","rs78785543",0.018,0.096,0.086,0.11,0.11,0.11,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,2,0,"KCNT2",1,310,"非编码区",16103,"0.48=210/441",null,343450,"1q31.3","NM_198503.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5942",66,29,0.44,{"$nulls":3},"A有","12309A","KCTD9","chr8:25296930","IVS5-7C>T","剪切位点","rs2271112",0.42,0.38,0.38,0.39,null,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"KCTD9",1,280,"剪切位点",16201,"0.41=36/87",null,54793,"8p21.1","NM_017634.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22504",50,50,1,{"$nulls":3},"A有","12309A","KDM4C","chr9:7174773","m.3795G>A(E22)","非编码区","rs913589",0.56,0.66,0.66,0.67,null,0.64,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KDM4C",1,230,"非编码区",14200,"1.00=74/74",null,23081,"9p24.1","NM_015061.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5671",110,109,0.99,{"$nulls":3},"A有","12309A","KERA","chr12:91449990","c.69C>T(E2)","p.23,V>V","rs2735333",0.62,0.77,0.79,0.76,0.74,0.79,"纯合","无关","有rs号，MAF>=5%",null,"扁平角膜2","AR",217300,5,1,1,1,"KERA",1,170,"同义",13203,"0.99=181/182",null,11081,"12q22","NM_007035.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24598",9,2,0.22,{"$nulls":3},"A有","12309A","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",{"$nulls":4},4,null,3,0,"KIAA0355",1,99,"非编码区",2420,"0.18=2/11",null,9710,"19q13.11","NM_014686.3","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12309A(99)v13292",103,102,0.99,{"$nulls":3},"A有","12309A","KIAA1107","chr1:92647532","c.2978C>A(E8)","p.993,T>N","rs565156",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KIAA1107",1,170,"错义",12210,"0.99=166/167",null,23285,"1p22.1","NM_015237.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16580",48,48,1,{"$nulls":3},"A有","12309A","KIAA1324","chr1:109735504","IVS12+8T>C","非编码区","rs659659",0.74,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"KIAA1324",1,120,"非编码区",16203,"1.00=64/64",null,57535,"1p13.3","NM_001267048.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18089",93,37,0.4,{"$nulls":3},"A有","12309A","KIAA1429","chr8:95531419","c.2307T>C(E9)","p.769,Q>Q","rs1866844",0.32,0.3,0.26,0.34,0.31,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KIAA1429",1,240,"同义",13203,"0.37=58/158",null,25962,"8q22.1","NM_015496.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17409",105,55,0.52,{"$nulls":3},"A有","12309A","KIAA1551","chr12:32135186","c.1297T>A(E4)","p.433,S>T","rs3759302",0.15,0.13,0.12,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"KIAA1551",1,180,"错义",12220,"0.57=78/138",null,55196,"12p11.21","NM_018169.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28015",28,28,1,{"$nulls":3},"A有","12309A","KIAA1683","chr19:18377647","c.703G>C(E3)","p.235,L>V","rs8103906",0.56,0.51,0.52,0.5,0.5,0.56,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"KIAA1683",0.98,32,"错义",12220,"1.00=36/36",null,80726,"19p13.1","NM_001145304.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31111",54,23,0.43,{"$nulls":3},"A有","12309A","KIAA1804","chr1:233515102","c.2350T>G(E9)","p.784,C>G","rs963981",0.28,0.33,0.3,0.35,0.3,0.31,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"KIAA1804",0.74,100,"错义",12220,"0.43=37/86",null,84451,"1q42","NM_032435.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12884",119,61,0.51,{"$nulls":3},"A有","12309A","KIF16B","chr20:16493533","c.384T>C(E5)","p.128,G>G","rs6135775",0.24,0.38,0.41,0.35,0.34,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KIF16B",0.92,190,"同义",13203,"0.49=100/204",null,55614,"20p11.23","NM_001199865.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28838",122,122,1,{"$nulls":3},"A有","12309A","KIF20B","chr10:91498127","c.3409T>C(E20)","p.1137,C>R","rs1886996",0.86,0.92,0.93,0.9,0.92,0.93,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,7,0,"KIF20B",1,260,"错义",12210,"1.00=213/213",null,9585,"10q23.31","NM_016195.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23746",34,34,1,{"$nulls":3},"A有","12309A","KIF3C","chr2:26203678","c.1109T>C(E1)","p.370,Q>R","rs1465878",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KIF3C",0.99,40,"错义",12230,"1.00=47/47",null,3797,"2p23","NM_002254.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25591",81,81,1,{"$nulls":3},"A有","12309A","KIF9","chr3:47282303","c.1912G>A(E18)","p.638,R>W","rs2276853",0.56,0.53,0.56,0.51,0.56,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KIF9",1,140,"错义",12210,"0.99=131/132",null,64147,"3p21.31","NM_001134878.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13649",220,104,0.47,{"$nulls":3},"A有","12309A","KIR3DL1","chr19:55333246","c.882C>T(E5)","p.294,F>F","rs34481025",0.24,0.13,0.16,0.1,0.13,0.29,"杂合","无关","有rs号，MAF>=5%",null,"人类免疫缺陷病毒易感1型",null,609423,5,2,13,1,"KIR3DL1",1,390,"同义",13203,"0.47=195/414",null,3811,"19q13.4","NM_013289.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1870",114,114,1,{"$nulls":3},"A有","12309A","KLHDC1","chr14:50195679","c.603A>G(E7)","p.201,T>T","rs4301946",0.91,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KLHDC1",1,350,"同义",13203,"0.99=204/206",null,122773,"14q21.3","NM_172193.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23764",32,32,1,{"$nulls":3},"A有","12309A","KLHL3","chr5:137028029","c.375T>C(E5)","p.125,A>A","rs2905608",0.83,1,1,1,0.93,0.99,"纯合","无关","有rs号，MAF>=5%",19240791,"假性醛固酮减少症2D型","AD,AR",614495,5,1,2,1,"KLHL3",1,130,"同义",13203,"1.00=47/47",null,26249,"5q31","NM_001257194.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19388",55,27,0.49,{"$nulls":3},"A有","12309A","KLHL5","chr4:39116775","IVS10-4A>T","剪切位点","rs10026775",0.49,0.48,0.43,0.52,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KLHL5",1,220,"剪切位点",16202,"0.46=32/70",null,51088,"4p14","NM_001007075.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3818",2,2,1,{"$nulls":3},"A有","12309A","KLK3","chr19:51359852","m.444T>C(E2)","非编码区","rs174776",0.74,0.56,0.54,0.57,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"KLK3",1,90,"非编码区",14200,"1.00=2/2",null,354,"19q13.41","NM_001030050.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31603",20,20,1,{"$nulls":3},"A有","12309A","KLRD1","chr12:10460442","m.26C>T(E1)","非编码区","rs3863336",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KLRD1",1,290,"非编码区",14200,"1.00=22/22",null,3824,"12p13","NM_002262.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16178",10,5,0.5,{"$nulls":3},"A有","12309A","KNDC1","chr10:135000148","c.1296T>C(E6)","p.432,A>A","rs3810965",0.42,0.56,0.54,0.57,0.5,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"KNDC1",0.92,27,"同义",13203,"0.35=6/17",null,85442,"10q26.3","NM_152643.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12946",5,5,1,{"$nulls":3},"A有","12309A","KRAS","chr12:25362465","m.1012G>A(E5)","非编码区","rs4285970",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",null,"cardiofaciocutaneous综合征2型","AD",615278,5,1,3,9,"KRAS",1,380,"非编码区",14200,"1.00=5/5",null,3845,"12p12.1","NM_004985.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6899",131,61,0.47,{"$nulls":3},"A有","12309A","KRR1","chr12:75900702","IVS2-6G>A","剪切位点","rs2704766",0.61,0.59,0.56,0.62,null,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"KRR1",1,310,"剪切位点",16202,"0.46=99/217",null,11103,"12q21.2","NM_007043.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22168",42,41,0.98,{"$nulls":3},"A有","12309A","KRT14","chr17:39742718","c.369A>G(E1)","p.123,N>N","rs3826549",null,0.95,0.96,0.95,0.84,0.95,"纯合","未知","预测范围之外的同义突变",null,"全身性单纯性大疱性表皮松解症","AD",131900,4,1,4,6,"KRT14",0.98,63,"同义",13303,"0.99=78/79",null,3861,"17q12-q21","NM_000526.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26855",78,78,1,{"$nulls":3},"A有","12309A","KRT19","chr17:39681475","c.471A>G(E2)","p.157,N>N","rs4601",0.73,0.92,0.92,0.91,0.92,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KRT19",1,48,"同义",13203,"0.99=153/154",null,3880,"17q21.2","NM_002276.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21816",32,32,1,{"$nulls":3},"A有","12309A","KRT6A","chr12:52881428","m.1980A>C(E9)","非编码区","rs28667515",0.59,0.75,0.74,0.76,null,null,"纯合","无关","有rs号，MAF>=5%",null,"先天性厚甲症3型",null,615726,5,1,5,1,"KRT6A",1,130,"非编码区",14200,"1.00=44/44",null,3853,"12q13.13","NM_005554.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10664",2,2,1,{"$nulls":3},"A有","12309A","KRT6C","chr12:52862503","m.2086C>T(E9)","非编码区","rs432498",0.25,0.5,0.48,0.51,null,null,"纯合","无关","有rs号，MAF>=5%",null,"点状或弥漫性非表皮松懈型掌跖角化病","AD",615735,5,1,12,1,"KRT6C",1,100,"非编码区",14200,"1.00=3/3",null,286887,"12q13.13","NM_173086.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9399",143,142,0.99,{"$nulls":3},"A有","12309A","KRT77","chr12:53096913","c.306G>A(E1)","p.102,T>T","rs1625862",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"KRT77",0.96,88,"同义",13203,"0.98=237/242",null,374454,"12q13.13","NM_175078.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11828",15,15,1,{"$nulls":3},"A有","12309A","KRT84","chr12:52774235","c.1336A>G(E7)","p.446,C>R","rs951773",0.83,0.78,0.77,0.78,0.67,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"KRT84",0.88,89,"错义",12220,"1.00=32/32",null,3890,"12q13","NM_033045.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20870",4,2,0.5,{"$nulls":3},"A有","12309A","KRTAP10-2","chr21:45971229","c.113G>T(E1)","p.38,A>D",{"$nulls":5},0.0012,0.0013,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"KRTAP10-2",1,9.1,"错义",12410,"0.40=2/5",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"]
["12309A(99)v16707",32,32,1,{"$nulls":3},"A有","12309A","KRTAP24-1","chr21:31655212","c.39A>C(E1)","p.13,G>G","rs1557291",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"KRTAP24-1",1,95,"同义",13203,"1.00=41/41",null,643803,"21q22.11","NM_001085455.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10681",11,2,0.18,{"$nulls":3},"A有","12309A","KRTAP5-8","chr11:71249158","c.57T>C(E1)","p.19,S>S","rs200887508",{"$nulls":4},0.21,0.0022,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"KRTAP5-8",1,51,"同义",13303,"0.20=3/15",null,57830,"11q13.4","NM_021046.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13695",27,16,0.59,{"$nulls":3},"A有","12309A","KY","chr3:134322814","c.1593G>C(E11)","p.531,G>G","rs2293294",0.3,0.12,0.12,0.13,0.11,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"KY",1,81,"同义",13203,"0.54=21/39",null,339855,"3q22.2","NM_178554.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17709",50,50,1,{"$nulls":3},"A有","12309A","LAMA1","chr18:6985631","c.5391C>T(E38)","p.1797,L>L","rs617206",0.55,0.68,0.68,0.67,0.66,0.69,"纯合","无关","有rs号，MAF>=5%",null," Poretti-Boltshauser综合征","AR",615960,5,1,6,1,"LAMA1",1,170,"同义",13203,"1.00=88/88",null,284217,"18p11.3","NM_005559.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17843",159,159,1,{"$nulls":3},"A有","12309A","LAMA3","chr18:21511172","IVS28+7G>C","非编码区","rs1258107",null,1,1,1,0.96,1,"纯合","未知","内含子突变可能影响调控",null,"赫利茨型交界型大疱性表皮松解症","AR",226700,4,1,4,3,"LAMA3",1,200,"非编码区",16303,"1.00=261/261",null,3909,"18q11.2","NM_000227.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9228",52,27,0.52,{"$nulls":3},"A有","12309A","LAMB3","chr1:209811886","c.291T>G(E4)","p.97,S>S","rs2076356",0.43,0.31,0.3,0.33,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",null,"赫利茨型交界型大疱性表皮松解症","AR",226700,5,3,4,2,"LAMB3",1,52,"同义",13203,"0.48=42/87",null,3914,"1q32","NM_000228.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24390",140,139,0.99,{"$nulls":3},"A有","12309A","LAMP3","chr3:182871962","c.267C>T(E2)","p.89,A>A","rs653316",0.79,0.76,0.8,0.72,0.77,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LAMP3",1,190,"同义",13203,"0.99=225/227",null,27074,"3q26.3-q27","NM_014398.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23599",36,36,1,{"$nulls":3},"A有","12309A","LARS2","chr3:45533224","c.1455G>A(E13)","p.485,A>A","rs2128361",0.78,0.98,0.98,0.97,0.95,0.98,"纯合","无关","有rs号，MAF>=5%",null,"佩罗（Perrault）综合征4型","AR",615300,5,1,5,1,"LARS2",1,170,"同义",13203,"1.00=50/50",null,23395,"3p21.3","NM_015340.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4011",115,115,1,{"$nulls":3},"A有","12309A","LBR","chr1:225609884","c.261A>G(E3)","p.87,P>P","rs1056608",0.67,0.93,0.91,0.94,0.88,0.9,"纯合","无关","有rs号，MAF>=5%",null,"REYNOLDS 综合征","AD",613471,5,1,3,3,"LBR",1,290,"同义",13203,"1.00=206/207",null,3930,"1q42.1","NM_002296.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11283",129,129,1,{"$nulls":3},"A有","12309A","LCP2","chr5:169675694-169675694","m.1816(E21):缺失T","非编码区","rs80044664",0.47,0.44,0.46,0.42,0.093,0.46,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"LCP2",1,180,"非编码区",2420,"1.00=147/147",null,3937,"5q35.1","NM_005565.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1200",13,13,1,{"$nulls":3},"A有","12309A","LDLR","chr19:11221454","IVS7+7T>C","非编码区","rs2738442",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,6,1,"LDLR",1,71,"非编码区",16203,"0.94=17/18",null,3949,"19p13.2","NM_000527.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25256",10,5,0.5,{"$nulls":3},"A有","12309A","LENG9","chr19:54973280","c.1496C>G(E1)","p.499,R>P","rs10423424",0.58,0.35,0.33,0.36,0.35,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"LENG9",0.51,4.6,"错义",12220,"0.60=9/15",null,94059,"19q13.4","NM_198988.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8854",8,2,0.25,{"$nulls":3},"A有","12309A","LGI4","chr19:35615995","m.2310C>T(E9)","非编码区","rs14358",0.36,0.25,0.29,0.22,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LGI4",0.85,29,"非编码区",14200,"0.33=3/9",null,163175,"19q13.12|19q13.11","NM_139284.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6266",65,65,1,{"$nulls":3},"A有","12309A","LHCGR","chr2:48925746","IVS9+8C>T","非编码区","rs6755901",0.74,0.46,0.43,0.5,0.56,0.48,"纯合","无关","有rs号，MAF>=5%",null,"男性限制的性早熟","AD",176410,5,1,3,2,"LHCGR",0.94,150,"非编码区",16203,"1.00=101/101",null,3973,"2p21","NM_000233.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2747",23,13,0.57,{"$nulls":3},"A有","12309A","LILRA1","chr19:55107343","c.901T>C(E6)","p.301,Y>H","rs10425981",{"$nulls":4},0.25,0.27,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,14,0,"LILRA1",1,140,"错义",12320,"0.48=15/31",null,11024,"19q13.4","NM_006863.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24063",197,196,0.99,{"$nulls":3},"A有","12309A","LILRB2","chr19:54784130","c.59T>C(E3)","p.20,H>R","rs383369",0.23,0.74,0.66,0.83,0.8,0.66,"纯合","无关","有rs号，MAF>=5%",18439545,{"$nulls":3},5,null,6,0,"LILRB2",1,130,"错义",12220,"1.00=337/338",null,10288,"19q13.4","NM_001080978.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28001",117,117,1,{"$nulls":3},"A有","12309A","LIN54","chr4:83900043","c.138A>G(E3)","p.46,V>V","rs6535422",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"LIN54",1,240,"同义",13203,"1.00=190/190",null,132660,"4q21.22","NM_001115007.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9177",56,29,0.52,{"$nulls":3},"A有","12309A","LIPI","chr21:15481234","m.1536C>T(E10)","非编码区","rs7279700",0.52,0.47,0.47,0.48,null,0.51,"杂合","无关","有rs号，MAF>=5%",null,"家族性高甘油三酯血症","AD",145750,5,1,4,1,"LIPI",1,280,"非编码区",14200,"0.49=41/84",null,149998,"21q11.2","NM_198996.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15853",41,21,0.51,{"$nulls":3},"A有","12309A","LMBR1","chr7:156476683","m.1777T>A(E17)","非编码区","rs3735186",0.092,0.15,0.15,0.15,null,null,"杂合","无关","有rs号，MAF>=5%",null,"胫骨发育不全或不发育，伴多趾畸形","AD",188740,5,1,1,5,"LMBR1",1,350,"非编码区",14200,"0.48=27/56",null,64327,"7q36","NM_022458.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18165",151,85,0.56,{"$nulls":3},"A有","12309A","LMO7","chr13:76382100","c.982C>T(E7)","p.328,L>F","rs2241913",0.13,0.19,0.18,0.19,0.17,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"LMO7",1,210,"错义",12210,"0.54=132/243",null,4008,"13q22.2","NM_015842.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18679",165,165,1,{"$nulls":3},"A有","12309A","LOC100996575","chr1:144618144","c.617A>G(E6)","p.206,Q>R","rs28691033",null,0.88,0.86,0.89,0.87,0.86,"纯合","未知","未知",{"$nulls":4},3,null,13,0,"LOC100996575",1,160,"错义",12330,"0.99=293/295",null,100996575,"-","XM_003846383.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13042",78,37,0.47,{"$nulls":3},"A有","12309A","LOC728819","chr2:43903262","c.200C>A(E1)","p.67,S>I","rs74589926",0.039,0.034,0.024,0.044,0.046,0.034,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"LOC728819",1,150,"错义",12110,"0.47=56/118",null,728819,"2p21","NM_001101330.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14330",9,9,1,{"$nulls":3},"A有","12309A","LOXL2","chr8:23190941","c.939T>C(E5)","p.313,S>S","rs1010156",0.41,0.49,0.48,0.49,0.4,0.47,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LOXL2",1,49,"同义",13203,"1.00=15/15",null,4017,"8p21.3","NM_002318.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9443",42,42,1,{"$nulls":3},"A有","12309A","LRBA","chr4:151199080","c.8390G>A(E56)","p.2797,S>L","rs2290846",0.14,0.25,0.26,0.24,0.24,0.26,"纯合","无关","有rs号，MAF>=5%",null,"普通变异性免疫缺陷病8型伴自身免疫","AR",614700,5,1,4,1,"LRBA",1,270,"错义",12220,"0.97=105/108",null,987,"4q31.3","NM_001199282.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24412",12,6,0.5,{"$nulls":3},"A有","12309A","LRIT1","chr10:85997105","c.460G>T(E2)","p.154,L>M","rs11200933",0.079,0.11,0.13,0.087,0.081,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LRIT1",0.93,40,"错义",12220,"0.46=6/13",null,26103,"10q23","NM_015613.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1326",97,97,1,{"$nulls":3},"A有","12309A","LRP1B","chr2:141533662","IVS33+5T>C","剪切位点","rs996361",0.86,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"LRP1B",1,260,"剪切位点",16202,"1.00=147/147",null,53353,"2q21.2","NM_018557.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9551",13,8,0.62,{"$nulls":3},"A有","12309A","LRP5","chr11:68133035","IVS4-4T>C","剪切位点","rs314776",0.4,0.12,0.14,0.097,0.091,0.097,"杂合","无关","有rs号，MAF>=5%",null,"常染色体显性骨硬化病1型","AD",607634,5,1,4,7,"LRP5",0.95,37,"剪切位点",16202,"0.64=14/22",null,4041,"11q13.4","NM_002335.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14238",102,101,0.99,{"$nulls":3},"A有","12309A","LRP6","chr12:12301898","c.3184C>T(E14)","p.1062,V>I","rs2302685",0.89,0.91,0.96,0.86,0.91,0.93,"纯合","无关","有rs号，MAF>=5%","17517621;18340469;19667113;20057906;20926594;22393312;24906453","遗传性冠状动脉疾病2型","AD",610947,5,1,1,1,"LRP6",1,210,"错义",12220,"0.99=163/165",null,4040,"12p13.2","NM_002336.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2089",18,18,1,{"$nulls":3},"A有","12309A","LRRC32","chr11:76370792","c.1845A>G(E3)","p.615,P>P","rs4304809",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"LRRC32",1,20,"同义",13203,"1.00=22/22",null,2615,"11q13.5-q14","NM_001128922.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9622",6,4,0.67,{"$nulls":3},"A有","12309A","LRRC61","chr7:150034378","c.428A>G(E3)","p.143,N>S","rs3735169",0.26,0.27,0.29,0.25,0.26,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LRRC61",1,9.4,"错义",12220,"0.70=7/10",null,65999,"7q31-q35","NM_001142928.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1750",19,19,1,{"$nulls":3},"A有","12309A","LRRFIP1","chr2:238688244","m.2056A>G(E24)","非编码区","rs1151798",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"LRRFIP1",0.97,170,"非编码区",14200,"1.00=31/31",null,9208,"2q37.3","NM_001137550.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4819",30,30,1,{"$nulls":3},"A有","12309A","LSG1","chr3:194362721","m.2368G>A(E14)","非编码区","rs1060827",0.83,0.73,0.73,0.73,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LSG1",1,190,"非编码区",14200,"1.00=47/47",null,55341,"3q29","NM_018385.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v766",24,15,0.62,{"$nulls":3},"A有","12309A","LTBR","chr12:6500105","m.1441T>G(E10)","非编码区","rs12354",0.84,0.86,0.85,0.87,null,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LTBR",0.97,50,"非编码区",14200,"0.67=24/36",null,4055,"12p13","NM_001270987.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16300",2,2,1,{"$nulls":3},"A有","12309A","LUZP1","chr1:23415102","m.3835T>C(E4)","非编码区","rs683893",0.74,0.82,0.85,0.79,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"LUZP1",1,92,"非编码区",14200,"1.00=2/2",null,7798,"1p36","NM_001142546.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6481",183,93,0.51,{"$nulls":3},"A有","12309A","LY75-CD302","chr2:160735008","IVS10-4C>T","剪切位点","rs2292388",0.22,0.35,0.34,0.35,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"LY75-CD302",1,250,"剪切位点",16202,"0.49=139/284",null,100526664,"2q","NM_001198759.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8475",53,24,0.45,{"$nulls":3},"A有","12309A","LYZL1","chr10:29581440","IVS2-8C>T","剪切位点","rs3818550",0.38,0.5,0.47,0.54,null,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"LYZL1",1,160,"剪切位点",16202,"0.46=42/91",null,84569,"10p12.1","NM_032517.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19347",50,50,1,{"$nulls":3},"A有","12309A","MAGEA12","chrX:151899913","c.888T>C(E3)","p.296,G>G","rs2233055",null,0.71,0.74,0.68,0.7,0.67,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"MAGEA12",1,130,"同义",13303,"1.00=84/84",null,4111,"Xq28","NM_001166386.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7802",7,7,1,{"$nulls":3},"A有","12309A","MAGED2","chrX:54836505","c.396A>G(E3)","p.132,T>T","rs1043034",null,0.64,0.59,0.69,0.5,0.66,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"MAGED2",1,48,"同义",13303,"1.00=10/10",null,10916,"Xp11.2","NM_014599.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5267",25,15,0.6,{"$nulls":3},"A有","12309A","MAML3","chr4:140640703","c.3191G>T(E5)","p.1064,P>H","rs61747885",0.11,0.13,0.15,0.12,0.16,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MAML3",1,71,"错义",12230,"0.68=26/38",null,55534,"4q28","NM_018717.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3153",78,78,1,{"$nulls":3},"A有","12309A","MAN2B2","chr4:6619204","c.2799G>A(E17)","p.933,V>V","rs4689490",0.69,0.93,0.94,0.92,0.89,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MAN2B2",1,53,"同义",13203,"0.99=140/141",null,23324,"4p16.1","NM_015274.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19725",66,35,0.53,{"$nulls":3},"A有","12309A","MAP2K3","chr17:21202237","c.164G>C(E3)","p.55,R>T","rs36047035",0.0002,0,0,0,0.47,0.5,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,17,0,"MAP2K3",1,110,"错义",12110,"0.50=62/123",null,5606,"17q11.2","NM_145109.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20302",221,100,0.45,{"$nulls":3},"A有","12309A","MAP3K5","chr6:136944063","c.2073A>G(E15)","p.691,Y>Y","rs3765258",0.15,0.23,0.21,0.26,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MAP3K5",0.99,240,"同义",13203,"0.45=171/380",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"]
["12309A(99)v2998",6,6,1,{"$nulls":3},"A有","12309A","MAPK11","chr22:50705466","c.507A>G(E7)","p.169,F>F","rs760748",1,1,1,1,0.9,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MAPK11",0.84,14,"同义",13203,"1.00=7/7",null,5600,"22q13.33","NM_002751.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13010",129,129,1,{"$nulls":3},"A有","12309A","MAPT","chr17:44067382","c.1321T>C(E8)","p.441,Y>H","rs2258689",0.31,0.63,0.6,0.67,0.63,0.64,"纯合","无关","有rs号，MAF>=5%","15297935;18509094;18541914","帕金森-痴呆综合征","AR",260540,5,1,1,5,"MAPT",1,85,"错义",12220,"1.00=209/209",null,4137,"17q21.1","NM_001123066.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12324",115,62,0.54,{"$nulls":3},"A有","12309A","MAST2","chr1:46493460","c.1977T>G(E17)","p.659,I>M","rs1707336",0.49,0.66,0.69,0.63,0.64,0.64,"杂合","无关","有rs号，MAF>=5%",15986317,{"$nulls":3},5,null,6,0,"MAST2",0.98,83,"错义",12220,"0.56=102/182",null,23139,"1p34.1","NM_015112.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13644",136,66,0.49,{"$nulls":3},"A有","12309A","MAT2B","chr5:162945269","c.905C>T(E7)","p.302,T>I","rs80145956",2.8E-3,0.0072,0.0095,0.0049,0.025,0.021,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"MAT2B",1,230,"错义",12120,"0.52=119/231",null,27430,"5q34-q35","NM_013283.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28430",62,29,0.47,{"$nulls":3},"A有","12309A","MAU2","chr19:19449686","c.489G>T(E5)","p.163,S>S","rs2074090",0.52,0.64,0.57,0.72,0.72,0.69,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MAU2",0.99,47,"同义",13203,"0.50=45/90",null,23383,"19p13.11","NM_015329.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20601",37,16,0.43,{"$nulls":3},"A有","12309A","MBTPS1","chr16:84135493","m.398A>G(E2)","非编码区","rs907045",0.78,0.84,0.83,0.85,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MBTPS1",1,180,"非编码区",14200,"0.43=18/42",null,8720,"16q24","NM_003791.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18880",22,22,1,{"$nulls":3},"A有","12309A","MCC","chr5:112399791","c.2103G>A(E14)","p.701,N>N","rs2227947",0.51,0.66,0.66,0.66,0.61,0.67,"纯合","无关","有rs号，MAF>=5%",null,"结肠癌","AD",114500,5,1,8,1,"MCC",1,120,"同义",13203,"1.00=38/38",null,4163,"5q21","NM_001085377.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25640",147,61,0.41,{"$nulls":3},"A有","12309A","MCTP2","chr15:94884108","c.924G>C(E6)","p.308,V>V","rs8025851",0.48,0.33,0.35,0.32,0.33,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MCTP2",1,250,"同义",13203,"0.44=110/252",null,55784,"15q26.2","NM_001159643.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20064",89,89,1,{"$nulls":3},"A有","12309A","MDFIC","chr7:114619598","c.255C>A(E4)","p.85,A>A","rs2594449",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MDFIC",0.97,100,"同义",13203,"1.00=128/128",null,29969,"7q31.1-q31.2","NM_001166345.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7305",98,97,0.99,{"$nulls":3},"A有","12309A","MDN1","chr6:90459454","c.3423G>A(E25)","p.1141,A>A","rs4053618",0.85,0.92,0.89,0.95,0.86,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"MDN1",1,200,"同义",13203,"0.99=159/160",null,23195,"6q15","NM_014611.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16001",39,16,0.41,{"$nulls":3},"A有","12309A","MEFV","chr16:3297181","c.1422C>T(E5)","p.474,E>E","rs224208",0.64,0.63,0.7,0.56,0.58,0.62,"杂合","无关","有rs号，MAF>=5%","18576390;19784369;9288758;10364520","常染色体显性家族性地中海热","AD",134610,5,1,7,2,"MEFV",0.96,61,"同义",13203,"0.36=20/56",null,4210,"16p13.3","NM_000243.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25782",2,2,1,{"$nulls":3},"A有","12309A","MEGF6","chr1:3418391","c.2283C>T(E18)","p.761,P>P","rs4648508",0.29,0.31,0.29,0.32,0.24,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"MEGF6",0.84,6.9,"同义",13203,"1.00=5/5",null,1953,"1p36.3","NM_001409.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12035",22,22,1,{"$nulls":3},"A有","12309A","MEP1B","chr18:29793526","IVS11+4C>T","剪切位点","rs335518",0.6,0.85,0.83,0.87,null,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"MEP1B",1,240,"剪切位点",16201,"1.00=32/32",null,4225,"18q12.2-q12.3","NM_005925.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10683",8,5,0.62,{"$nulls":3},"A有","12309A","METTL21B","chr12:58166403","m.21T>G(E1)","非编码区","rs2291617",0.38,0.64,0.65,0.64,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"METTL21B",1,77,"非编码区",14200,"0.50=5/10",null,25895,"12q14.1","NM_015433.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12667",41,41,1,{"$nulls":3},"A有","12309A","MFAP3","chr5:153429169","m.403A>G(E2)","非编码区","rs478020",0.62,0.73,0.75,0.71,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MFAP3",1,130,"非编码区",14200,"1.00=55/55",null,4238,"5q32-q33.2","NM_001242336.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5166",72,35,0.49,{"$nulls":3},"A有","12309A","MFSD2A","chr1:40430907","c.417C>T(E4)","p.139,A>A","rs115805986",0.021,0.012,0.019,0.0049,0.018,0.016,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"MFSD2A",0.98,74,"同义",13103,"0.50=60/120",null,84879,"1p34.2","NM_001136493.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17436",50,50,1,{"$nulls":3},"A有","12309A","MICA","chr6:31382942","m.1221G>C(E6)","非编码区","rs9266828",0.34,0.29,0.29,0.29,null,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,22,0,"MICA",1,58,"非编码区",14200,"1.00=71/71",null,100507436,"6p21.33","NM_001177519.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14645",53,30,0.57,{"$nulls":3},"A有","12309A","MICALCL","chr11:12315915","c.937A>G(E3)","p.313,S>G","rs1493954",0.53,0.68,0.7,0.66,0.61,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"MICALCL",1,130,"错义",12210,"0.60=44/73",null,84953,"11p15.3","NM_032867.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11322",69,32,0.46,{"$nulls":3},"A有","12309A","MKI67","chr10:129899778","c.8369G>C(E13)","p.2790,T>S","rs11106",0.42,0.38,0.39,0.38,0.42,0.41,"杂合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,26,0,"MKI67",1,130,"错义",12220,"0.49=52/106",null,4288,"10q26.2","NM_001145966.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27345",72,37,0.51,{"$nulls":3},"A有","12309A","MKRN1","chr7:140159721","c.330T>C(E3)","p.110,K>K","rs10243155",0.3,0.18,0.16,0.2,0.17,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MKRN1",1,150,"同义",13203,"0.53=60/114",null,23608,"7q34","NM_001145125.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v553",13,5,0.38,{"$nulls":3},"A有","12309A","MLF1","chr3:158323212","m.1209G>A(E7)","非编码区","rs6804259",0.58,0.35,0.35,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",null,"急性髓性白血病","AD",601626,5,1,3,1,"MLF1",0.85,270,"非编码区",14200,"0.36=5/14",null,4291,"3q25.1","NM_001130156.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31115",102,51,0.5,{"$nulls":3},"A有","12309A","MLNR","chr13:49796317","c.1043C>A(E2)","p.348,A>E",{"$nulls":7},"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,1,0,"MLNR",0.61,35,"错义",12410,"0.49=82/169",null,2862,"13q14-q21","NM_001507.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4181",88,45,0.51,{"$nulls":3},"A有","12309A","MMP13","chr11:102820965","IVS5-9G>A","剪切位点","rs17860556",0.031,0.0096,0.0048,0.015,0.022,0.021,"杂合","未知","剪切位点预测结果为无害",null,"Missouri型脊椎干骺端发育不良/干骺端发育不良1型","AD",602111,4,1,3,1,"MMP13",1,280,"剪切位点",16102,"0.54=72/134",null,4322,"11q22.3","NM_002427.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9090",87,39,0.45,{"$nulls":3},"A有","12309A","MMP20","chr11:102477377","c.842G>T(E6)","p.281,T>N","rs1784424",0.42,0.45,0.45,0.45,0.45,0.44,"杂合","无关","有rs号，MAF>=5%",19834535,"牙釉质发育不全成熟低下IIA2型","AR",612529,5,3,3,1,"MMP20",1,220,"错义",12220,"0.49=70/142",null,9313,"11q22.3","NM_004771.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2709",37,37,1,{"$nulls":3},"A有","12309A","MOCOS","chr18:33779821","c.475C>A(E4)","p.159,R>R","rs646424",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MOCOS",0.95,140,"同义",13203,"1.00=55/55",null,55034,"18q12","NM_017947.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6206",67,32,0.48,{"$nulls":3},"A有","12309A","MOV10","chr1:113239382","c.2112G>A(E14)","p.704,E>E","rs17030651",0.23,0.47,0.48,0.46,0.48,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"MOV10",1,82,"同义",13203,"0.48=50/105",null,4343,"1p13.2","NM_001130079.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26180",119,119,1,{"$nulls":3},"A有","12309A","MPHOSPH10","chr2:71366957","c.1273C>A(E6)","p.425,L>M","rs3732240",0.12,0.46,0.48,0.44,0.42,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MPHOSPH10",1,210,"错义",12220,"1.00=206/206",null,10199,"2p13.3","NM_005791.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2094",47,47,1,{"$nulls":3},"A有","12309A","MRAS","chr3:138091701","IVS1-7G>T","剪切位点","rs1199333",0.88,0.97,0.99,0.96,null,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MRAS",1,120,"剪切位点",16202,"0.98=59/60",null,22808,"3q22.3","NM_001085049.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1856",63,35,0.56,{"$nulls":3},"A有","12309A","MRO","chr18:48346026","c.66A>G(E2)","p.22,T>T","rs72627210",0.016,0.055,0.062,0.049,0.069,0.063,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"MRO",1,180,"同义",13103,"0.61=54/89",null,83876,"18q21","NM_001127175.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1693",55,26,0.47,{"$nulls":3},"A有","12309A","MRPL37","chr1:54683925","m.1352G>A(E7)","非编码区","rs6621",0.23,0.46,0.48,0.45,0.48,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MRPL37",1,130,"非编码区",14200,"0.46=49/106",null,51253,"1p32.1","NM_016491.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26714",29,16,0.55,{"$nulls":3},"A有","12309A","MRPS36","chr5:68513599","m.27G>T(E1)","非编码区","rs2242350",0.3,0.29,0.29,0.3,0.25,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MRPS36",1,300,"非编码区",14200,"0.60=29/48",null,92259,"5q13.2","NM_033281.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24122",10,2,0.2,{"$nulls":3},"A有","12309A","MS4A10","chr11:60567589","m.1107G>A(E8)","非编码区","rs10792292",0.55,0.85,0.86,0.83,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MS4A10",1,120,"非编码区",14200,"0.27=3/11",null,341116,"11q12.2","NM_206893.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24109",100,100,1,{"$nulls":3},"A有","12309A","MSH3","chr5:80149981","c.2846A>G(E21)","p.949,Q>R","rs184967",0.9,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%","18701435;19781088;20386703;25023197","子宫内膜癌",null,608089,5,1,5,1,"MSH3",1,260,"错义",12220,"1.00=152/152",null,4437,"5q11-q12","NM_002439.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9980",53,12,0.23,{"$nulls":3},"A有","12309A","MSTO1","chr1:155583937","c.1583A>G(E14)","p.528,K>R","rs147713038",0.35,0.7,0.7,0.71,0.46,0.72,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MSTO1",1,170,"错义",12220,"0.25=21/85",null,55154,"1q22","NM_001256532.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29204",20,19,0.95,{"$nulls":3},"A有","12309A","MTERFD3","chr12:107371179-107371180","m.1665(E3)至m.1664(E3):缺失AT","非编码区","rs3837509",0.65,0.61,0.6,0.62,0.051,null,"纯合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,1,0,"MTERFD3",1,140,"非编码区",2420,"0.95=19/20",null,80298,"12q24.1","NM_001033050.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13532",73,40,0.55,{"$nulls":3},"A有","12309A","MTIF3","chr13:28009920","c.729G>C(E5)","p.243,F>L","rs1218825",0.82,0.54,0.56,0.51,0.51,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"MTIF3",1,140,"错义",12220,"0.55=58/106",null,219402,"13q12.2","NM_001166261.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23309",73,31,0.42,{"$nulls":3},"A有","12309A","MTRF1","chr13:41834744","c.300C>T(E2)","p.100,E>E","rs2297555",0.67,0.53,0.48,0.59,0.59,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MTRF1",1,160,"同义",13203,"0.39=44/112",null,9617,"13q14.1-q14.3","NM_004294.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28791",212,104,0.49,{"$nulls":3},"A有","12309A","MUC12","chr7:100647875","c.14031C>A(E2)","p.4677,S>S","rs11766048",0.63,0.62,0.59,0.66,0.6,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,23,0,"MUC12",1,480,"同义",13203,"0.50=194/387",null,10071,"7q22","NM_001164462.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20442",92,39,0.42,{"$nulls":3},"A有","12309A","MUC16","chr19:9058907","c.28539G>C(E3)","p.9513,H>Q","rs1833777",0.42,0.51,0.52,0.5,0.48,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,76,0,"MUC16",1,130,"错义",12220,"0.47=70/149",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"]
["12309A(99)v20407",80,42,0.53,{"$nulls":3},"A有","12309A","MUC16","chr19:9075737","c.11709T>C(E3)","p.3903,V>V","rs2547071",0.46,0.52,0.53,0.5,0.5,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,76,0,"MUC16",1,130,"同义",13203,"0.47=58/124",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"]
["12309A(99)v2635",480,221,0.46,{"$nulls":3},"A有","12309A","MUC17","chr7:100677630","c.2933C>T(E3)","p.978,P>L","rs78990442",0.2,0.23,0.24,0.21,0.2,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,39,0,"MUC17",1,290,"错义",12220,"0.47=413/882",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"]
["12309A(99)v1146",10,10,1,{"$nulls":3},"A有","12309A","MUC2","chr11:1080576","c.1218G>A(E9)","p.406,T>T","rs41349846",0.27,0.35,0.35,0.34,0.31,0.37,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,21,0,"MUC2",0.98,67,"同义",13203,"1.00=12/12",null,4583,"11p15.5","NM_002457.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17665",86,48,0.56,{"$nulls":3},"A有","12309A","MUC20","chr3:195452689","c.597C>T(E2)","p.199,D>D","rs141077164",{"$nulls":4},0.49,0.51,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,23,0,"MUC20",1,140,"同义",13303,"0.53=67/127",null,200958,"3q29","NM_001098516.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5697",24,15,0.62,{"$nulls":3},"A有","12309A","MUC4","chr3:195505944","c.12507C>T(E2)","p.4169,V>V","rs199963450",{"$nulls":4},0.36,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,136,0,"MUC4",1,87,"同义",13303,"0.59=22/37",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5833",81,64,0.79,{"$nulls":3},"A有","12309A","MUC4","chr3:195507365","c.11086G>A(E2)","p.3696,P>S","rs75737861",0.039,0.036,0.024,0.049,0.45,0.51,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,136,0,"MUC4",1,87,"错义",12120,"0.77=103/133",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5796",86,39,0.45,{"$nulls":3},"A有","12309A","MUC4","chr3:195509676","c.8775C>G(E2)","p.2925,Q>H","rs372419355",{"$nulls":4},0.44,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,136,0,"MUC4",1,87,"错义",12320,"0.46=71/154",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5739",55,54,0.98,{"$nulls":3},"A有","12309A","MUC4","chr3:195511590","c.6861A>G(E2)","p.2287,T>T","rs3103955",null,0.69,0.78,0.59,0.72,0.79,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,136,0,"MUC4",1,87,"同义",13303,"0.98=86/88",null,4585,"3q29","NM_018406.6","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5745",98,98,1,{"$nulls":3},"A有","12309A","MUC4","chr3:195518330","c.121C>G(E2)","p.41,A>P","rs3107764",0.5,0.7,0.77,0.63,0.64,0.73,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,136,0,"MUC4",1,87,"错义",12220,"1.00=152/152",null,4585,"3q29","NM_018406.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25020",42,13,0.31,{"$nulls":3},"A有","12309A","MUC5B","chr11:1267475","c.9365T>C(E31)","p.3122,M>T","rs58125533",0.11,0.22,0.23,0.2,0.17,0.19,"杂合","无关","有rs号，MAF>=5%",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,5,1,32,1,"MUC5B",0.98,65,"错义",12220,"0.30=16/53",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"]
["12309A(99)v26453",124,63,0.51,{"$nulls":3},"A有","12309A","MUCL1","chr12:55250549","IVS2-5T>G","剪切位点","rs10783685",{"$nulls":5},0.77,"杂合","可能相关","mRNA剪接可能会受影响",{"$nulls":4},2,null,3,0,"MUCL1",1,240,"剪切位点",16301,"0.46=92/199",null,118430,"12q","NM_058173.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17773",18,3,0.17,{"$nulls":3},"A有","12309A","MYC","chr8:128753254","m.1940A>G(E3)","非编码区","rs2070583",0.067,0.16,0.17,0.16,0.097,0.15,"杂合","无关","有rs号，MAF>=5%",null,"伯基特淋巴瘤",null,113970,5,2,2,1,"MYC",0.95,53,"非编码区",14200,"0.14=3/22",null,4609,"8q24.21","NM_002467.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17156",15,9,0.6,{"$nulls":3},"A有","12309A","MYCBPAP","chr17:48603503","c.2173C>T(E14)","p.725,R>W","rs9890721",0.54,0.84,0.85,0.82,0.75,0.84,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"MYCBPAP",1,110,"错义",12220,"0.64=18/28",null,84073,"17q21.33","NM_032133.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6236",16,10,0.62,{"$nulls":3},"A有","12309A","MYH14","chr19:50771609","c.2919G>A(E23)","p.973,L>L","rs3745504",0.48,0.42,0.41,0.43,0.37,0.51,"杂合","无关","有rs号，MAF>=5%",null,"周围神经病变,肌病,喉咙疼痛和听力损失","AD",614369,5,1,4,2,"MYH14",0.96,36,"同义",13203,"0.52=14/27",null,79784,"19q13.33","NM_001077186.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16552",23,10,0.43,{"$nulls":3},"A有","12309A","MYH6","chr14:23855314","c.4986C>T(E34)","p.1662,A>A","rs77416370",0.0034,0.019,0.019,0.019,0.024,0.012,"杂合","未知","预测范围之外的同义突变",null,"心房间隔缺损3型",null,614089,4,2,1,4,"MYH6",1,82,"同义",13103,"0.38=15/39",null,4624,"14q12","NM_002471.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28304",54,24,0.44,{"$nulls":3},"A有","12309A","MYH9","chr22:36710183","IVS13+7T>C","非编码区","rs3752462",0.39,0.22,0.19,0.25,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",null,"Epstein综合症","AD",153650,5,1,5,6,"MYH9",1,57,"非编码区",16203,"0.50=47/94",null,4627,"22q13.1","NM_002473.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20821",60,30,0.5,{"$nulls":3},"A有","12309A","MYO10","chr5:16762646","IVS15+8T>C","非编码区","rs31511",0.89,0.8,0.77,0.83,null,0.8,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"MYO10",1,150,"非编码区",16203,"0.51=49/97",null,4651,"5p15.1-p14.3","NM_012334.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14471",49,49,1,{"$nulls":3},"A有","12309A","MYO19","chr17:34869150","m.2029C>A(E11)","非编码区","rs6607296",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"MYO19",1,93,"非编码区",14200,"0.99=85/86",null,80179,"17q12","NM_001033580.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20184",263,263,1,{"$nulls":3},"A有","12309A","MYO3B","chr2:171355198","c.3111A>G(E26)","p.1037,V>V","rs6761297",0.98,0.99,0.98,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"MYO3B",1,230,"同义",13203,"1.00=631/631",null,140469,"2q31.1-q31.2","NM_001083615.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10037",118,118,1,{"$nulls":3},"A有","12309A","MYOCD","chr17:12647490","IVS7-10T>C","剪切位点","rs12709295",0.76,0.74,0.74,0.74,null,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"MYOCD",1,140,"剪切位点",16202,"1.00=214/215",null,93649,"17p11.2","NM_001146312.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15656",11,4,0.36,{"$nulls":3},"A有","12309A","MYOM3","chr1:24418768","c.1128T>C(E11)","p.376,P>P","rs7556176",0.38,0.33,0.34,0.33,0.3,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"MYOM3",1,79,"同义",13203,"0.35=6/17",null,127294,"1p36.11","NM_152372.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20740",107,107,1,{"$nulls":3},"A有","12309A","MYOT","chr5:137206560","c.220A>C(E2)","p.74,K>Q","rs6890689",{"$nulls":4},0.99,1,"纯合","未知","未知",null,"肌原纤维肌病3型","AD",609200,3,1,3,3,"MYOT",1,280,"错义",12330,"1.00=151/151",null,9499,"5q31","NM_006790.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15486",156,156,1,{"$nulls":3},"A有","12309A","NAA25","chr12:112477055","c.2627T>C(E22)","p.876,K>R","rs12231744",0.17,0.59,0.61,0.56,0.61,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NAA25",1,270,"错义",12220,"1.00=270/270",null,80018,"12q24.13","NM_024953.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v857",61,24,0.39,{"$nulls":3},"A有","12309A","NADSYN1","chr11:71185518","c.744T>C(E9)","p.248,I>I","rs2186778",0.75,0.85,0.82,0.88,0.89,0.85,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NADSYN1",1,92,"同义",13203,"0.38=35/91",null,55191,"11q13.4","NM_018161.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13012",11,7,0.64,{"$nulls":3},"A有","12309A","NAGA","chr22:42463814","c.279C>T(E3)","p.93,P>P","rs133369",0.68,0.85,0.87,0.84,0.79,0.85,"杂合","无关","有rs号，MAF>=5%",null,"Kanzaki病","AR",609242,5,3,3,2,"NAGA",1,64,"同义",13203,"0.62=10/16",null,4668,"22q11","NM_000262.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9582",77,40,0.52,{"$nulls":3},"A有","12309A","NAV2","chr11:19854088","c.134G>A(E2)","p.45,R>K","rs6483617",0.41,0.4,0.43,0.36,0.44,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,17,0,"NAV2",1,110,"错义",12220,"0.51=71/138",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"]
["12309A(99)v4186",25,12,0.48,{"$nulls":3},"A有","12309A","NBEAL1","chr2:204082217","m.8558T>A(E55)","非编码区","rs184530363",0.0006,0.0048,0.0048,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"NBEAL1",1,310,"非编码区",14100,"0.50=14/28",null,65065,"2q33.2","NM_001114132.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28720",140,96,0.69,{"$nulls":3},"A有","12309A","NBPF1","chr1:16903912","c.1804T>A(E18)","p.602,N>Y","rs61772344",{"$nulls":5},0.85,"杂合","未知","未知",{"$nulls":4},3,null,22,0,"NBPF1",1,780,"错义",12330,"0.60=110/183",null,55672,"1p36.13","NM_017940.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12091",81,43,0.53,{"$nulls":3},"A有","12309A","NBPF7","chr1:120387120","c.39G>A(E1)","p.13,T>T","rs12405228",0.36,0.37,0.34,0.4,0.4,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NBPF7",1,190,"同义",13203,"0.55=64/117",null,343505,"1p12","NM_001047980.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29940",90,89,0.99,{"$nulls":3},"A有","12309A","NCKAP5","chr2:133539566","c.4818G>A(E14)","p.1606,H>H","rs6730282",0.54,0.81,0.8,0.83,0.8,0.76,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"NCKAP5",1,140,"同义",13203,"0.99=154/156",null,344148,"2q21.2","NM_207363.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16456",3,3,1,{"$nulls":3},"A有","12309A","NCOR2","chr12:124821696","c.5688C>T(E39)","p.1896,P>P","rs2229842",0.26,0.5,0.53,0.46,0.39,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NCOR2",0.92,22,"同义",13203,"1.00=8/8",null,9612,"12q24","NM_001077261.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2360",45,21,0.47,{"$nulls":3},"A有","12309A","NDRG1","chr8:134260948","IVS11+10A>G","非编码区","rs2233336",0.093,0.27,0.22,0.31,0.28,0.3,"杂合","无关","有rs号，MAF>=5%",null,"恰克-马利-杜斯氏症4D型","AR",601455,5,3,3,1,"NDRG1",1,110,"非编码区",16203,"0.46=29/63",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"]
["12309A(99)v28144",96,52,0.54,{"$nulls":3},"A有","12309A","NDUFC2-KCTD14","chr11:77727773","m.1424C>T(E4)","非编码区",{"$nulls":6},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"NDUFC2-KCTD14",0.78,120,"非编码区",14400,"0.54=90/167",null,100532726,"11q14.1","NM_001203260.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21867",76,37,0.49,{"$nulls":3},"A有","12309A","NEB","chr2:152511778","IVS51+6A>C","剪切位点","rs10930723",0.43,0.6,0.6,0.61,null,0.66,"杂合","无关","有rs号，MAF>=5%",null,"2型杆状体肌病","AR",256030,5,3,21,1,"NEB",1,300,"剪切位点",16202,"0.51=66/130",null,4703,"2q22","NM_001164507.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v421",185,182,0.98,{"$nulls":3},"A有","12309A","NEFH","chr22:29885861","c.2232T>C(E4)","p.744,A>A","rs165923",0.82,0.76,0.72,0.8,0.81,0.82,"纯合","无关","有rs号，MAF>=5%",null,"肌萎缩侧索硬化症1型","AD,AR",105400,5,1,4,1,"NEFH",0.77,130,"同义",13203,"0.98=370/379",null,4744,"22q12.2","NM_021076.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26511",2,2,1,{"$nulls":3},"A有","12309A","NEK8","chr17:27069393","m.2467C>T(E15)","非编码区","rs1142899",0.39,0.48,0.47,0.5,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肾肝胰腺发育不良2型 ","AR",615415,5,1,2,2,"NEK8",1,57,"非编码区",14200,"1.00=2/2",null,284086,"17q11.1","NM_178170.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28900",73,38,0.52,{"$nulls":3},"A有","12309A","NEU3","chr11:74705696","c.237T>C(E2)","p.79,S>S","rs544115",0.7,0.77,0.76,0.78,0.75,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NEU3",0.98,71,"同义",13203,"0.55=59/107",null,10825,"11q13.5","NM_006656.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v533",38,38,1,{"$nulls":3},"A有","12309A","NFE4","chr7:102616469","c.347G>A(E2)","p.116,R>Q","rs2228687",0.78,0.84,0.83,0.85,0.81,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NFE4",1,60,"错义",12220,"1.00=55/55",null,58160,"7q22.1","NM_001085386.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10418",65,65,1,{"$nulls":3},"A有","12309A","NGEF","chr2:233757697","c.777A>G(E5)","p.259,I>I","rs895432",0.94,0.9,0.88,0.92,0.92,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NGEF",0.95,61,"同义",13203,"1.00=99/99",null,25791,"2q37","NM_001114090.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11041",95,95,1,{"$nulls":3},"A有","12309A","NID2","chr14:52520853","c.954A>G(E4)","p.318,Y>Y","rs904059",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"NID2",1,110,"同义",13203,"1.00=141/141",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"]
["12309A(99)v22697",21,20,0.95,{"$nulls":3},"A有","12309A","NLGN1","chr3:173322277","m.312G>A(E3)","非编码区","rs11718812",0.078,0.067,0.048,0.087,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NLGN1",1,190,"非编码区",14200,"0.96=26/27",null,22871,"3q26.31","NM_014932.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14377",29,29,1,{"$nulls":3},"A有","12309A","NLRC5","chr16:57060353","c.1498T>C(E5)","p.500,C>R","rs28438857",0.28,0.6,0.57,0.63,0.56,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"NLRC5",1,57,"错义",12220,"1.00=46/46",null,84166,"16q13","NM_032206.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8769",28,16,0.57,{"$nulls":3},"A有","12309A","NLRP5","chr19:56539240","c.1641C>T(E7)","p.547,D>D","rs397977",0.35,0.38,0.37,0.39,0.32,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"NLRP5",1,120,"同义",13203,"0.56=25/45",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"]
["12309A(99)v31395",2,2,1,{"$nulls":3},"A有","12309A","NME3","chr16:1820992","c.282T>A(E4)","p.94,V>V","rs11890",0.76,0.65,0.65,0.66,0.48,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NME3",0.97,3.7,"剪切位点",13202,"1.00=4/4",null,4832,"16q13.3","NM_002513.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29834",15,7,0.47,{"$nulls":3},"A有","12309A","NMUR1","chr2:232389744","m.1401A>G(E3)","非编码区","rs3752762",0.35,0.48,0.49,0.46,null,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"NMUR1",1,21,"非编码区",14200,"0.52=12/23",null,10316,"2q37.1","NM_006056.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8931",168,110,0.65,{"$nulls":3},"A有","12309A","NOMO1","chr16:14989420","c.3587C>T(E31)","p.1196,A>V","rs77101519",{"$nulls":4},0.49,0.48,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"NOMO1",1,560,"错义",12320,"0.64=188/294",null,23420,"16p13.11","NM_014287.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6952",7,5,0.71,{"$nulls":3},"A有","12309A","NOS3","chr7:150704250","c.1998C>G(E17)","p.666,A>A","rs2566514",0.43,0.4,0.39,0.41,0.33,0.36,"杂合","无关","有rs号，MAF>=5%",17601350,"缺血性中风（易感）",null,601367,5,2,3,4,"NOS3",0.94,24,"同义",13203,"0.67=6/9",null,4846,"7q36","NM_000603.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7835",5,3,0.6,{"$nulls":3},"A有","12309A","NOTCH3","chr19:15271771","c.6668G>A(E33)","p.2223,A>V","rs1044009",0.63,0.54,0.6,0.49,0.44,0.64,"杂合","无关","有rs号，MAF>=5%",22664156,"婴儿肌纤维瘤病2型","AD",615293,5,1,11,2,"NOTCH3",0.87,17,"错义",12220,"0.43=3/7",null,4854,"19p13.2-p13.1","NM_000435.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13113",8,4,0.5,{"$nulls":3},"A有","12309A","NPAP1","chr15:24921771","c.757G>C(E1)","p.253,G>R","rs1563102",0.27,0.5,0.48,0.52,0.38,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NPAP1",0.97,92,"错义",12210,"0.44=4/9",null,23742,"15q11-q13","NM_018958.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10717",4,4,1,{"$nulls":3},"A有","12309A","NPHS2","chr1:179520151","m.1394C>T(E8)","非编码区","rs1410590",0.91,0.98,0.97,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",null,"肾病综合征2型（激素耐药型）","AR",600995,5,1,3,1,"NPHS2",0.93,150,"非编码区",14200,"1.00=4/4",null,7827,"1q25.2","NM_014625.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11720",155,155,1,{"$nulls":3},"A有","12309A","NPVF","chr7:25267963","c.96G>C(E1)","p.32,I>M","rs886354",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NPVF",1,220,"错义",12230,"1.00=280/280",null,64111,"7p21-p15","NM_022150.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17383",69,69,1,{"$nulls":3},"A有","12309A","NRAP","chr10:115405615","c.1079T>C(E11)","p.360,Q>R","rs3127106",0.56,0.72,0.7,0.75,0.72,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,18,0,"NRAP",1,170,"错义",12220,"1.00=125/125",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"]
["12309A(99)v19704",96,95,0.99,{"$nulls":3},"A有","12309A","NRD1","chr1:52266242","c.2427G>A(E21)","p.809,P>P","rs8375",0.49,0.8,0.81,0.79,0.79,0.83,"纯合","无关","有rs号，MAF>=5%",15986317,{"$nulls":3},5,null,3,0,"NRD1",1,270,"同义",13203,"0.99=163/165",null,4898,"1p32.2-p32.1","NM_001101662.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17780",4,2,0.5,{"$nulls":3},"A有","12309A","NRXN1","chr2:50574007","c.81T>C(E1)","p.27,A>A","rs562219421",0.0026,0.0048,0.0048,0.0049,0.0091,3.8E-3,"杂合","未知","预测范围之外的同义突变",null,"假Pitt-Hopkins综合征2","AR",614325,4,3,2,2,"NRXN1",0.95,150,"同义",13103,"0.71=5/7",null,9378,"2p16.3","NM_138735.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6011",85,85,1,{"$nulls":3},"A有","12309A","NSDHL","chrX:152018832","c.132T>G(E4)","p.44,G>G","rs5969919",null,0.92,0.93,0.92,0.92,0.92,"纯合","未知","预测范围之外的同义突变",null,"CHILD综合征先天性半发育异常伴鱼鳞病样红斑及肢体缺陷","XD",308050,4,1,1,2,"NSDHL",1,91,"同义",13303,"1.00=148/148",null,50814,"Xq28","NM_001129765.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25061",6,3,0.5,{"$nulls":3},"A有","12309A","NTM","chr11:132205215","m.1541A>G(E8)","非编码区","rs8894",0.22,0.14,0.12,0.16,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"NTM",1,140,"非编码区",14200,"0.57=4/7",null,50863,"11q25","NM_001048209.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6432",50,50,1,{"$nulls":3},"A有","12309A","NUCB2","chr11:17351683","c.1012C>G(E12)","p.338,Q>E","rs757081",0.24,0.4,0.4,0.39,0.36,0.4,"纯合","无关","有rs号，MAF>=5%","21459029;23266808",{"$nulls":3},5,null,2,0,"NUCB2",1,290,"错义",12220,"0.99=71/72",null,4925,"11p15.1","NM_005013.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11669",72,31,0.43,{"$nulls":3},"A有","12309A","NUP205","chr7:135329690","c.5607T>C(E40)","p.1869,A>A","rs12540688",0.25,0.22,0.24,0.2,0.27,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NUP205",1,240,"同义",13203,"0.42=55/131",null,23165,"7q33","NM_015135.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5860",2,2,1,{"$nulls":3},"A有","12309A","NUP50","chr22:45580899","m.2232G>C(E8)","非编码区","rs2673084",0.83,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"NUP50",1,220,"非编码区",14200,"1.00=5/5",null,10762,"22q13.31","NM_007172.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8315",39,39,1,{"$nulls":3},"A有","12309A","NWD1","chr19:16860105","c.652G>A(E6)","p.218,A>T","rs706764",0.98,0.93,0.91,0.94,0.91,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"NWD1",0.91,59,"错义",12220,"1.00=57/57",null,284434,"19p13.11","NM_001007525.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28758",113,113,1,{"$nulls":3},"A有","12309A","OAS3","chr12:113398919","c.1701G>A(E8)","p.567,S>S","rs2072136",0.32,0.64,0.65,0.62,0.64,0.67,"纯合","无关","有rs号，MAF>=5%","15732009;21050126;23337612;24819159",{"$nulls":3},5,null,4,0,"OAS3",1,68,"同义",13203,"1.00=188/188",null,4940,"12q24.2","NM_006187.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29238",14,3,0.21,{"$nulls":3},"A有","12309A","OBSCN","chr1:228505750","c.14007C>T(E53)","p.4669,F>F","rs3795802",0.025,0.12,0.12,0.11,0.096,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,26,0,"OBSCN",0.96,24,"同义",13103,"0.24=5/21",null,84033,"1q42.13","NM_001098623.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23789",15,2,0.13,{"$nulls":3},"A有","12309A","OCA2","chr15:28096538","c.2328A>G(E22)","p.776,A>A","rs1800419",0.5,0.44,0.44,0.44,0.39,0.44,"杂合","无关","有rs号，MAF>=5%","17236130;18392143","眼皮肤白化病2型","AR",203200,5,3,5,2,"OCA2",1,150,"同义",13203,"0.21=8/39",null,4948,"15q","NM_000275.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5849",28,28,1,{"$nulls":3},"A有","12309A","OMA1","chr1:59004979","m.76C>T(E2)","非编码区","rs902925",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OMA1",1,320,"非编码区",14200,"1.00=40/40",null,115209,"1p32.2-p32.1","NM_145243.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9162",80,80,1,{"$nulls":3},"A有","12309A","OPA1","chr3:193355074","IVS8+4T>C","剪切位点","rs166850",0.92,0.95,0.94,0.96,0.94,0.96,"纯合","无关","有rs号，MAF>=5%",null,"视神经萎缩1型","AD",165500,5,1,4,3,"OPA1",1,320,"剪切位点",16202,"0.99=140/141",null,4976,"3q28-q29","NM_015560.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3407",119,44,0.37,{"$nulls":3},"A有","12309A","OR10G4","chr11:123886352","c.71T>C(E1)","p.24,L>P","rs547068",{"$nulls":4},0.31,0.23,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"OR10G4",1,190,"错义",12320,"0.31=59/192",null,390264,"11q24.1","NM_001004462.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2557",67,62,0.93,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"OR10H5",1,120,"错义",12210,"0.92=87/95",null,284433,"19p13.12","NM_001004466.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23582",66,66,1,{"$nulls":3},"A有","12309A","OR10Q1","chr11:57996312","c.36C>G(E1)","p.12,E>D","rs4245219",0.94,0.95,0.95,0.95,0.95,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR10Q1",1,78,"错义",12220,"1.00=107/107",null,219960,"11q12.1","NM_001004471.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24892",228,105,0.46,{"$nulls":3},"A有","12309A","OR13C9","chr9:107380177","c.309A>G(E1)","p.103,L>L","rs1813819",0.43,0.56,0.53,0.59,0.53,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR13C9",1,270,"同义",13203,"0.47=174/367",null,286362,"9q31.1","NM_001001956.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26311",70,70,1,{"$nulls":3},"A有","12309A","OR14I1","chr1:248845458","c.148C>T(E1)","p.50,D>N","rs4509608",0.75,0.85,0.84,0.87,0.82,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"OR14I1",1,130,"错义",12210,"1.00=102/102",null,401994,"1q44","NM_001004734.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25177",61,33,0.54,{"$nulls":3},"A有","12309A","OR1J2","chr9:125273794","c.714G>A(E1)","p.238,L>L","rs150280924",1.8E-3,0.0072,0,0.015,2.3E-3,0.0061,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"OR1J2",1,120,"同义",13103,"0.50=48/96",null,26740,"9q34.11","NM_054107.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25682",120,120,1,{"$nulls":3},"A有","12309A","OR1N2","chr9:125315557","c.109T>C(E1)","p.37,W>R","rs1831370",0.56,0.65,0.67,0.63,0.63,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"OR1N2",1,130,"错义",12220,"1.00=180/180",null,138882,"9q33.2","NM_001004457.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2862",86,36,0.42,{"$nulls":3},"A有","12309A","OR2A25","chr7:143771536","c.224G>A(E1)","p.75,S>N","rs6951485",0.64,0.67,0.69,0.65,0.69,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR2A25",1,160,"错义",12220,"0.42=50/119",null,392138,"7q35","NM_001004488.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28138",53,53,1,{"$nulls":3},"A有","12309A","OR2J2","chr6:29141743","c.331A>G(E1)","p.111,T>A","rs3129157",0.94,1,1,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR2J2",1,110,"错义",12210,"1.00=91/91",null,26707,"6p22.2-p21.31","NM_030905.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9126",136,58,0.43,{"$nulls":3},"A有","12309A","OR2T12","chr1:248458569","c.312T>G(E1)","p.104,T>T","rs35216356",0.033,0.019,0.014,0.024,0.39,0.18,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"OR2T12",1,280,"同义",13103,"0.52=125/241",null,127064,"1q44","NM_001004692.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13902",98,47,0.48,{"$nulls":3},"A有","12309A","OR2T34","chr1:248737329","c.730C>T(E1)","p.244,A>T","rs75095367",{"$nulls":4},0.32,0.3,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"OR2T34",1,180,"错义",12320,"0.48=69/143",null,127068,"1q44","NM_001001821.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14875",63,32,0.51,{"$nulls":3},"A有","12309A","OR2T8","chr1:248084854","c.535A>G(E1)","p.179,T>A","rs4584426",{"$nulls":4},0.2,0.073,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,13,0,"OR2T8",1,210,"错义",12320,"0.43=37/87",null,343172,"1q44","NM_001005522.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22888",32,16,0.5,{"$nulls":3},"A有","12309A","OR4C15","chr11:55322211","c.429A>G(E1)","p.143,K>K","rs9804659",0.25,0.38,0.36,0.4,0.33,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OR4C15",1,130,"同义",13203,"0.52=22/42",null,81309,"11q11","NM_001001920.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14173",81,50,0.62,{"$nulls":3},"A有","12309A","OR4K13","chr14:20502120","c.798C>T(E1)","p.266,S>S","rs17277032",0.27,0.25,0.23,0.26,0.25,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OR4K13",1,170,"同义",13203,"0.66=91/137",null,390433,"14q11.2","NM_001004714.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13128",79,79,1,{"$nulls":3},"A有","12309A","OR4N4","chr15:22383066","c.594A>G(E1)","p.198,L>L","rs559754",0.42,0.42,0.42,0.42,0.61,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"OR4N4",1,160,"同义",13203,"1.00=122/122",null,283694,"15q11.2","NM_001005241.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6080",64,26,0.41,{"$nulls":3},"A有","12309A","OR51I1","chr11:5462105","c.640T>C(E1)","p.214,T>A","rs60832895",0.12,0.34,0.37,0.32,0.31,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR51I1",1,120,"错义",12220,"0.37=35/95",null,390063,"11p15.4","NM_001005288.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14692",64,42,0.66,{"$nulls":3},"A有","12309A","OR52B6","chr11:5602605","c.499G>A(E1)","p.167,A>T","rs2341433",0.57,0.78,0.78,0.78,0.71,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"OR52B6",1,130,"错义",12220,"0.64=63/99",null,340980,"11p15.4","NM_001005162.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5597",47,47,1,{"$nulls":3},"A有","12309A","OR5AN1","chr11:59132798","c.867G>C(E1)","p.289,L>F","rs7941190",0.67,0.73,0.72,0.73,0.66,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"OR5AN1",1,140,"错义",12210,"1.00=63/63",null,390195,"11q12.1","NM_001004729.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23080",54,54,1,{"$nulls":3},"A有","12309A","OR5AR1","chr11:56431216","c.55C>T(E1)","p.19,Q>X","rs11228710",0.62,0.8,0.81,0.79,0.74,0.77,"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%",{"$nulls":4},5,null,2,0,"OR5AR1",1,130,"截断",15200,"1.00=83/83",null,219493,"11q12.1","NM_001004730.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11745",173,78,0.45,{"$nulls":3},"A有","12309A","OR5H15","chr3:97888197","c.654C>T(E1)","p.218,Y>Y","rs7623031",0.63,0.5,0.52,0.48,0.51,0.51,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR5H15",1,250,"同义",13203,"0.46=123/270",null,403274,"3q12.1","NM_001005515.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8405",26,26,1,{"$nulls":3},"A有","12309A","OR6B3","chr2:240985347","c.143G>A(E1)","p.48,T>I","rs13030992",{"$nulls":4},0.59,0.58,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"OR6B3",1,110,"错义",12320,"0.98=44/45",null,150681,"2q37.3","NM_173351.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27130",61,61,1,{"$nulls":3},"A有","12309A","OR6N1","chr1:158735892","c.581A>G(E1)","p.194,I>T","rs857827",0.67,0.6,0.55,0.64,0.62,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR6N1",1,100,"错义",12220,"1.00=93/93",null,128372,"1q23.1","NM_001005185.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v259",68,68,1,{"$nulls":3},"A有","12309A","OR7A17","chr19:14992031","c.137A>G(E1)","p.46,I>T","rs10405129",0.33,0.66,0.7,0.63,0.62,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR7A17",1,160,"错义",12210,"1.00=104/104",null,26333,"19p13.12","NM_030901.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8441",70,70,1,{"$nulls":3},"A有","12309A","OR8D4","chr11:123777497","c.359G>A(E1)","p.120,C>Y","rs10750250",0.81,0.78,0.75,0.8,0.77,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"OR8D4",1,120,"错义",12220,"1.00=102/102",null,338662,"11q24.1","NM_001005197.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15671",92,47,0.51,{"$nulls":3},"A有","12309A","OR8S1","chr12:48919891","c.477T>C(E1)","p.159,N>N","rs74637616",0.011,0.079,0.086,0.073,0.064,0.071,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"OR8S1",1,82,"同义",13103,"0.50=69/137",null,341568,"12q13.11","NM_001005203.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14081",77,35,0.45,{"$nulls":3},"A有","12309A","OR9Q2","chr11:57957960","m.55T>C(E1)","非编码区","rs61902821",0.15,0.079,0.067,0.092,null,0.073,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"OR9Q2",1,80,"非编码区",14200,"0.45=60/133",null,219957,"11q12.1","NM_001005283.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31703",17,17,1,{"$nulls":3},"A有","12309A","OSBPL5","chr11:3109408","m.2621C>T(E21)","非编码区","rs2289998",0.76,0.8,0.79,0.81,null,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"OSBPL5",0.96,23,"非编码区",14200,"1.00=23/23",null,114879,"11p15.4","NM_001144063.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1024",227,90,0.4,{"$nulls":3},"A有","12309A","OTOA","chr16:21742188","c.2001G>A(E16)","p.667,T>T","rs76494517",{"$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",607039,4,3,4,1,"OTOA",1,190,"同义",13303,"0.45=200/441",null,146183,"16p12.2|16p12.2","NM_001161683.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17806",47,46,0.98,{"$nulls":3},"A有","12309A","OTUB2","chr14:94510964","c.336T>C(E5)","p.112,D>D","rs2273226",0.49,0.47,0.45,0.5,0.48,0.46,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"OTUB2",1,120,"同义",13203,"0.98=96/98",null,78990,"14q32.12","NM_023112.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23438",191,189,0.99,{"$nulls":3},"A有","12309A","OVOS2","chr12:31300891","c.1369C>A(E11)","p.457,V>L","rs56144986",0.63,0.64,0.69,0.6,0.64,0.67,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"OVOS2",1,300,"错义",12210,"0.99=295/298",null,144203,"12p11.21","XM_002343151.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11846",5,5,1,{"$nulls":3},"A有","12309A","P2RX7","chr12:121622520","c.1703A>T(E13)","p.568,N>I","rs1653624",0.99,1,1,1,0.82,1,"纯合","无关","有rs号，MAF>=5%","19319666;22776862;23648388;24934217",{"$nulls":3},5,null,8,0,"P2RX7",1,160,"错义",12230,"1.00=8/8",null,5027,"12q24","NM_002562.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30632",62,21,0.34,{"$nulls":3},"A有","12309A","PADI2","chr1:17418894","IVS6+9A>G","非编码区","rs2273111",0.49,0.44,0.43,0.44,null,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PADI2",1,65,"非编码区",16203,"0.36=31/86",null,11240,"1p36.13","NM_007365.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10361",23,7,0.3,{"$nulls":3},"A有","12309A","PALM","chr19:731144","c.319A>G(E5)","p.107,T>A","rs1050457",0.55,0.5,0.5,0.5,0.41,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PALM",1,21,"错义",12220,"0.26=10/38",null,5064,"19p13.3","NM_001040134.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7681",31,31,1,{"$nulls":3},"A有","12309A","PANK4","chr1:2452569","c.393T>C(E3)","p.131,K>K","rs2985862",0.85,0.98,0.97,0.99,0.97,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PANK4",1,45,"同义",13203,"1.00=48/48",null,55229,"1p36.32","NM_018216.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15640",152,151,0.99,{"$nulls":3},"A有","12309A","PARD3","chr10:34688287","c.861G>A(E7)","p.287,H>H","rs2796011",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PARD3",0.99,190,"同义",13203,"0.99=250/252",null,56288,"10p11.21","NM_001184785.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17499",111,27,0.24,{"$nulls":3},"A有","12309A","PARP4","chr13:25021263","c.3176T>C(E26)","p.1059,Q>R","rs77269056",{"$nulls":4},0.34,0.41,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,24,0,"PARP4",1,210,"错义",12310,"0.29=62/213",null,143,"13q11","NM_006437.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17710",84,84,1,{"$nulls":3},"A有","12309A","PARVB","chr22:44489896","c.300T>C(E3)","p.100,L>L","rs738479",0.65,0.87,0.85,0.88,0.85,0.86,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PARVB",0.91,110,"剪切位点",13202,"0.99=149/151",null,29780,"22q13.2-q13.33","NM_001003828.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15380",27,21,0.78,{"$nulls":3},"A有","12309A","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",268220,4,3,3,4,"PAX3",1,140,"非编码区",2420,"0.79=22/28",null,5077,"2q35","NM_000438.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24442",107,57,0.53,{"$nulls":3},"A有","12309A","PCDH7","chr4:30726226","c.3182G>A(E1)","p.1061,C>Y","rs140432368",0.0052,0.041,0.033,0.049,0.018,0.024,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"PCDH7",0.94,80,"错义",12120,"0.50=86/171",null,5099,"4p15","NM_032456.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30662",146,68,0.47,{"$nulls":3},"A有","12309A","PCDHA3","chr5:140181734","c.952A>G(E1)","p.318,I>V","rs3733708",0.53,0.57,0.57,0.57,0.58,0.53,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PCDHA3",1,90,"错义",12220,"0.48=133/278",null,56145,"5q31","NM_018906.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6699",67,29,0.43,{"$nulls":3},"A有","12309A","PCDHB10","chr5:140572763","c.638C>G(E1)","p.213,T>R","rs2907323",0.097,0.075,0.081,0.068,0.097,0.083,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PCDHB10",0.98,110,"错义",12210,"0.41=41/101",null,56126,"5q31","NM_018930.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13335",104,50,0.48,{"$nulls":3},"A有","12309A","PCDHB2","chr5:140474756","c.382G>A(E1)","p.128,V>I","rs31853",0.097,0.072,0.081,0.063,0.09,0.074,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PCDHB2",1,110,"错义",12220,"0.46=76/166",null,56133,"5q31","NM_018936.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22203",69,69,1,{"$nulls":3},"A有","12309A","PCDHB7","chr5:140553581","c.1165G>C(E1)","p.389,V>L","rs2910313",0.63,0.63,0.62,0.65,0.59,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PCDHB7",1,97,"错义",12220,"1.00=93/93",null,56129,"5q31","NM_018940.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7865",9,2,0.22,{"$nulls":3},"A有","12309A","PCDHGA6","chr5:140755495","c.1845A>G(E1)","p.615,G>G","rs3749773",0.071,0.038,0.043,0.034,0.038,0.042,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PCDHGA6",1,83,"同义",13203,"0.20=2/10",null,56109,"5q31","NM_018919.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10394",72,30,0.42,{"$nulls":3},"A有","12309A","PCDHGB7","chr5:140799812","c.2386G>A(E1)","p.796,V>I","rs72790042",0.057,0.038,0.043,0.034,0.043,0.042,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PCDHGB7",1,91,"错义",12220,"0.35=47/136",null,56099,"5q31","NM_018927.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6784",209,184,0.88,{"$nulls":3},"A有","12309A","PCM1","chr8:17827260-17827261","IVS22+3至IVS22+4:插入C","非编码区","rs3214087",0.7,0.64,0.64,0.65,0.53,0.64,"纯合","无关","内含子突变",null,"乳头状甲状腺癌","AD",188550,5,1,8,1,"PCM1",1,250,"非编码区",2500,"0.86=201/234",null,5108,"8p22-p21.3","NM_006197.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8152",10,10,1,{"$nulls":3},"A有","12309A","PCNXL3","chr11:65385606","c.773A>G(E6)","p.258,Q>R","rs1151489",null,1,1,1,0.9,1,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,5,0,"PCNXL3",1,22,"错义",12320,"1.00=15/15",null,399909,"11q13.1","NM_032223.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11404",10,10,1,{"$nulls":3},"A有","12309A","PDCD1","chr2:242793273","c.804A>G(E5)","p.268,A>A","rs2227981",null,0.71,0.71,0.71,0.63,0.72,"纯合","未知","预测范围之外的同义突变","18045485;19234630;19468750;21269571;21487727","多发性硬化症（易感）",null,126200,4,1,2,2,"PDCD1",1,24,"同义",13303,"1.00=11/11",null,5133,"2q37.3","NM_005018.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13900",131,68,0.52,{"$nulls":3},"A有","12309A","PDE1A","chr2:183088584","IVS8+7G>A","非编码区","rs3754929",0.73,0.75,0.78,0.71,null,0.72,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PDE1A",0.91,260,"非编码区",16203,"0.53=121/230",null,5136,"2q32.1","NM_001003683.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19042",363,114,0.31,{"$nulls":3},"A有","12309A","PDE4DIP","chr1:144854180","c.6666T>C(E45)","p.2222,A>A","rs4997148",{"$nulls":4},0.49,0.49,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,65,0,"PDE4DIP",0.99,230,"同义",13303,"0.30=199/663",null,9659,"1q12","NM_001198832.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19026",185,88,0.48,{"$nulls":3},"A有","12309A","PDE4DIP","chr1:144912233","c.2531C>T(E11)","p.844,R>H","rs1629011",{"$nulls":4},0.49,0.5,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,65,0,"PDE4DIP",0.99,230,"错义",12310,"0.47=140/300",null,9659,"1q12","NM_001002811.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11054",75,40,0.53,{"$nulls":3},"A有","12309A","PDE6B","chr4:663908","m.2630A>G(E22)","非编码区","rs28675771",0.55,0.44,0.45,0.42,0.43,0.42,"杂合","无关","有rs号，MAF>=5%",null,"显性遗传先天性静止性夜盲症2型","AD",163500,5,1,2,2,"PDE6B",1,45,"非编码区",14200,"0.55=63/114",null,5158,"4p16.3","NM_000283.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18958",163,79,0.48,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"PDHX",0.99,220,"同义",13203,"0.48=135/281",null,8050,"11p13","NM_001135024.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16151",16,7,0.44,{"$nulls":3},"A有","12309A","PDLIM2","chr8:22442661","c.1197A>G(E5)","p.399,A>A","rs2294047",0.58,0.48,0.48,0.49,0.49,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PDLIM2",0.61,19,"同义",13203,"0.48=11/23",null,64236,"8p21.3","NM_021630.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20691",8,8,1,{"$nulls":3},"A有","12309A","PDXK","chr21:45175958","m.1151T>C(E11)","非编码区","rs7527",0.58,0.75,0.73,0.77,null,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PDXK",0.91,69,"非编码区",14200,"1.00=10/10",null,8566,"21q22.3","NM_003681.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5677",210,82,0.39,{"$nulls":3},"A有","12309A","PELI1","chr2:64327544","c.291G>T(E4)","p.97,T>T","rs329498",0.36,0.72,0.76,0.68,0.69,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PELI1",1,190,"同义",13203,"0.37=132/358",null,57162,"2p13.3","NM_020651.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31624",25,14,0.56,{"$nulls":3},"A有","12309A","PEPD","chr19:33878197","m.1668G>A(E15)","非编码区","rs77690463",0.017,0.072,0.076,0.068,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"脯肽酶缺乏症","AR",170100,3,3,1,1,"PEPD",0.9,63,"非编码区",14100,"0.55=21/38",null,5184,"19q13.11","NM_000285.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22618",9,2,0.22,{"$nulls":3},"A有","12309A","PEX3","chr6:143771927","m.10T>C(E1)","非编码区",{"$nulls":5},4.3E-3,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"Zellweger综合征（脑肝肾综合征），过氧化物酶体生成障碍10A型","AR",614882,3,3,1,1,"PEX3",1,310,"非编码区",14400,"0.20=2/10",null,8504,"6q24.2","NM_003630.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9899",111,111,1,{"$nulls":3},"A有","12309A","PGLYRP4","chr1:153320372","c.37T>G(E2)","p.13,I>L","rs3006458",0.79,0.7,0.71,0.7,0.69,0.72,"纯合","无关","有rs号，MAF>=5%",24838182,{"$nulls":3},5,null,5,0,"PGLYRP4",1,140,"错义",12220,"1.00=193/193",null,57115,"1q21","NM_020393.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19819",17,17,1,{"$nulls":3},"A有","12309A","PHF11","chr13:50102992","m.1524T>C(E10)","非编码区","rs3033",0.42,0.45,0.45,0.45,null,null,"纯合","无关","有rs号，MAF>=5%",null,"IgE反应,遗传性过敏症","AD",147050,5,1,3,2,"PHF11",0.91,250,"非编码区",14200,"1.00=19/19",null,51131,"13q14.2","NM_001040443.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19819",17,17,1,{"$nulls":3},"A有","12309A","PHF11","chr13:50102992","m.1524T>C(E10)","非编码区","rs3033",0.42,0.45,0.45,0.45,null,null,"纯合","无关","有rs号，MAF>=5%",null,"哮喘，易感","AD",600807,5,1,3,2,"PHF11",0.91,250,"非编码区",14200,"1.00=19/19",null,51131,"13q14.2","NM_001040443.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4524",11,6,0.55,{"$nulls":3},"A有","12309A","PI4KA","chr22:21098735-21098735","UTR:缺失G","非编码区","rs36120605",0.53,0.67,0.68,0.66,0.013,null,"杂合","无关","不在基因上的突变",{"$nulls":4},5,null,5,0,"PI4KA",0.98,140,"非编码区",2600,"0.58=7/12",null,5297,"22q11.21","NM_002650.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21776",12,5,0.42,{"$nulls":3},"A有","12309A","PIEZO1","chr16:88782676","c.7059A>G(E49)","p.2353,P>P","rs2290902",0.87,0.92,0.93,0.92,0.86,0.89,"杂合","无关","有rs号，MAF>=5%",19107206,"（脱水型？）遗传性口形红细胞增多症伴或不伴假性高钾血症和/或围产期水肿","AD",194380,5,1,11,1,"PIEZO1",0.96,19,"同义",13203,"0.41=7/17",null,9780,"16q24.3","NM_001142864.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10091",164,163,0.99,{"$nulls":3},"A有","12309A","PIGB","chr15:55619796","c.485T>C(E4)","p.162,M>T","rs2290344",0.23,0.56,0.55,0.57,0.53,0.57,"纯合","无关","有rs号，MAF>=5%",19898621,{"$nulls":3},5,null,3,0,"PIGB",1,250,"错义",12220,"1.00=275/276",null,9488,"15q21.3","NM_004855.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26448",3,3,1,{"$nulls":3},"A有","12309A","PIGQ","chr16:633843","m.2692A>G(E11)","非编码区","rs8675",0.52,0.6,0.58,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"PIGQ",0.94,16,"非编码区",14200,"1.00=3/3",null,9091,"16p13.3","NM_004204.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12557",24,24,1,{"$nulls":3},"A有","12309A","PIGZ","chr3:196674916","c.852A>C(E3)","p.284,A>A","rs1147240",0.58,0.82,0.84,0.79,0.75,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"PIGZ",1,44,"同义",13203,"1.00=35/35",null,80235,"3q29","NM_025163.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8370",78,78,1,{"$nulls":3},"A有","12309A","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",121850,5,1,12,1,"PIKFYVE",1,240,"同义",13203,"0.99=129/130",null,200576,"2q34","NM_015040.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5110",11,4,0.36,{"$nulls":3},"A有","12309A","PITHD1","chr1:24114129","m.1029G>A(E6)","非编码区","rs4237",0.67,0.56,0.53,0.59,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PITHD1",0.69,170,"非编码区",14200,"0.33=4/12",null,57095,"1p36.11","NM_020362.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7445",3,3,1,{"$nulls":3},"A有","12309A","PITX3","chr10:103991381","c.285G>A(E3)","p.95,I>I","rs2281983",0.66,0.78,0.76,0.8,0.69,0.78,"纯合","无关","有rs号，MAF>=5%","19394114;19754401;21565251;22037506;22429667","前片段间叶细胞发育不良","AD",107250,5,1,1,2,"PITX3",0.99,4.6,"同义",13203,"1.00=4/4",null,5309,"10q24.32","NM_005029.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5071",66,64,0.97,{"$nulls":3},"A有","12309A","PKD1L2","chr16:81241098","c.903C>T(E5)","p.301,P>P","rs11150369",0.7,0.88,0.92,0.84,0.83,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,39,0,"PKD1L2",1,93,"同义",13203,"0.98=115/117",null,114780,"16q23.2","NM_001076780.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8033",152,67,0.44,{"$nulls":3},"A有","12309A","PKD2L2","chr5:137226279","IVS2+8C>T","非编码区",{"$nulls":6},1.4E-3,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"PKD2L2",1,250,"非编码区",16403,"0.42=118/278",null,27039,"5q31","NM_001258448.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18861",159,64,0.4,{"$nulls":3},"A有","12309A","PKHD1L1","chr8:110542337","m.12854T>C(E78)","非编码区","rs1617350",0.28,0.36,0.37,0.35,0.31,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,20,0,"PKHD1L1",1,270,"非编码区",14200,"0.40=105/261",null,93035,"8q23","NM_177531.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26337",21,10,0.48,{"$nulls":3},"A有","12309A","PLA2G2D","chr1:20442054","c.238T>C(E3)","p.80,S>G","rs584367",0.77,0.77,0.78,0.76,0.75,0.77,"杂合","无关","有rs号，MAF>=5%","16002569;19365107",{"$nulls":3},5,null,1,0,"PLA2G2D",1,49,"错义",12220,"0.43=13/30",null,26279,"1p36.12","NM_012400.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26691",141,141,1,{"$nulls":3},"A有","12309A","PLA2G7","chr6:46672943","c.1136A>G(E11)","p.379,V>A","rs1051931",0.81,0.89,0.91,0.87,0.84,0.88,"纯合","无关","有rs号，MAF>=5%","18204052;18426996;19135199;20442857;20479152;21834908;23404648;24732951","哮喘，易感","AD",600807,5,1,2,3,"PLA2G7",1,340,"错义",12220,"1.00=249/249",null,7941,"6p21.2-p12","NM_001168357.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12862",40,40,1,{"$nulls":3},"A有","12309A","PLCB3","chr11:64022459","c.336A>G(E4)","p.112,P>P","rs632439",0.95,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PLCB3",0.9,39,"同义",13203,"1.00=64/64",null,5331,"11q13","NM_000932.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31090",4,4,1,{"$nulls":3},"A有","12309A","PLD3","chr19:40884160","m.1951G>A(E13)","非编码区","rs4635",0.57,0.71,0.72,0.69,null,0.71,"纯合","无关","有rs号，MAF>=5%",null,"阿尔茨海默病（老年性痴呆）19型",null,615711,5,1,1,1,"PLD3",1,38,"非编码区",14200,"1.00=6/6",null,23646,"19q13.2","NM_001031696.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26949",118,55,0.47,{"$nulls":3},"A有","12309A","PLEKHD1","chr14:69966850","c.168G>A(E2)","p.56,E>E","rs4902723",0.13,0.038,0.057,0.019,0.034,0.042,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PLEKHD1",1,56,"同义",13203,"0.48=96/202",null,400224,"14q24.1","NM_001161498.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13726",143,75,0.52,{"$nulls":3},"A有","12309A","PLEKHH2","chr2:43927538","c.1441C>A(E8)","p.481,P>T","rs17031297",0.041,0.029,0.014,0.044,0.038,0.03,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,6,0,"PLEKHH2",1,300,"错义",12110,"0.46=98/214",null,130271,"2p21","NM_172069.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20220",67,66,0.99,{"$nulls":3},"A有","12309A","PLIN4","chr19:4511730","c.2200T>C(E3)","p.734,I>V","rs62115190",null,0.97,0.99,0.96,0.97,0.96,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,27,0,"PLIN4",0.93,69,"错义",12320,"0.98=129/131",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"]
["12309A(99)v11160",2,2,1,{"$nulls":3},"A有","12309A","PLIN5","chr19:4525046","c.763A>G(E7)","p.255,C>R","rs1610090",0.85,0.65,0.65,0.65,0.44,0.68,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PLIN5",0.63,16,"错义",12220,"1.00=2/2",null,440503,"19p13.3","NM_001013706.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26109",39,39,1,{"$nulls":3},"A有","12309A","PM20D1","chr1:205812912","c.710A>G(E6)","p.237,I>T","rs7518979",0.25,0.41,0.4,0.42,0.39,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PM20D1",1,130,"错义",12210,"1.00=55/55",null,148811,"1q32.1","NM_152491.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26107",67,67,1,{"$nulls":3},"A有","12309A","PM20D1","chr1:205814497","c.445T>C(E3)","p.149,I>V","rs1891460",0.84,0.72,0.72,0.71,0.72,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"PM20D1",1,130,"错义",12220,"1.00=98/98",null,148811,"1q32.1","NM_152491.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23723",47,47,1,{"$nulls":3},"A有","12309A","PNN","chr14:39650234","c.1321A>T(E9)","p.441,T>S","rs2180792",0.9,0.95,0.95,0.96,0.91,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PNN",1,170,"错义",12230,"1.00=67/67",null,5411,"14q21.1","NM_002687.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14255",67,34,0.51,{"$nulls":3},"A有","12309A","PNRC2","chr1:24288404","m.869A>G(E3)","非编码区","rs76630293",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"PNRC2",1,220,"非编码区",14300,"0.46=51/111",null,55629,"1p36.11","NM_017761.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2995",43,43,1,{"$nulls":3},"A有","12309A","POLE","chr12:133208979","c.6252T>C(E45)","p.2084,S>S","rs5745022",0.7,0.76,0.77,0.75,0.77,0.81,"纯合","无关","有rs号，MAF>=5%",null,"FILS综合征（面部异形，免疫缺陷，青斑和身材矮小）","AR",615139,5,1,4,2,"POLE",0.99,80,"同义",13203,"1.00=82/82",null,5426,"12q24.3","NM_006231.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24348",38,18,0.47,{"$nulls":3},"A有","12309A","POLR1E","chr9:37503241","m.1402C>T(E12)","非编码区","rs11792930",0.11,0.15,0.15,0.16,null,0.17,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"POLR1E",1,140,"非编码区",14200,"0.46=23/50",null,64425,"9p13.2","NM_022490.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15945",205,97,0.47,{"$nulls":3},"A有","12309A","POLR3B","chr12:106838340","c.1881T>C(E19)","p.627,Y>Y","rs10861607",0.32,0.69,0.69,0.7,0.7,0.71,"杂合","无关","有rs号，MAF>=5%",null,"脑白质营养不良伴或不伴缺牙和/或促性腺激素分泌不足的性腺功能低下症8型",null,614381,5,2,2,1,"POLR3B",1,240,"同义",13203,"0.47=177/373",null,55703,"12q23.3","NM_001160708.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21440",106,106,1,{"$nulls":3},"A有","12309A","POMGNT1","chr1:46655158","c.1867T>C(E21)","p.623,M>V","rs6659553",0.94,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"肌营养不良-抗肌萎缩相关糖蛋白病（先天性肢带型）C型3","AR",613157,5,1,1,3,"POMGNT1",0.94,87,"错义",12230,"1.00=164/164",null,55624,"1p34.1","NM_001243766.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21849",51,25,0.49,{"$nulls":3},"A有","12309A","POPDC2","chr3:119361250","m.1302A>G(E4)","非编码区","rs8007",0.48,0.35,0.3,0.4,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"POPDC2",1,78,"非编码区",14200,"0.48=32/67",null,64091,"3q13.33","NM_022135.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v267",72,22,0.31,{"$nulls":3},"A有","12309A","POTED","chr21:14982746","c.197G>A(E1)","p.66,R>H","rs369746921",{"$nulls":4},0.44,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,7,0,"POTED",1,590,"错义",12320,"0.29=26/90",null,317754,"21q11.2","NM_174981.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11583",12,3,0.25,{"$nulls":3},"A有","12309A","POU5F1","chr6:31132251-31132252","m.1110(E5)至m.1109(E5):缺失TT","非编码区",null,null,0.099,0.09,0.11,0,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"POU5F1",0.63,38,"非编码区",2440,"0.23=3/13",null,5460,"6p21.31","NM_001173531.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17468",24,24,1,{"$nulls":3},"A有","12309A","PPCDC","chr15:75336729","c.234A>G(E4)","p.78,I>M","rs2304899",0.82,0.87,0.87,0.87,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PPCDC",1,94,"错义",12220,"1.00=46/46",null,60490,"15q24.2","NM_021823.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1002",10,3,0.3,{"$nulls":3},"A有","12309A","PPM1H","chr12:63042007","m.1956G>A(E10)","非编码区","rs531280899",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"PPM1H",1,120,"非编码区",14300,"0.27=3/11",null,57460,"12q14.1","NM_020700.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1704",123,67,0.54,{"$nulls":3},"A有","12309A","PPP1R17","chr7:31746837","c.255C>T(E4)","p.85,D>D","rs2072409",0.12,0.23,0.21,0.26,0.24,0.24,"杂合","无关","有rs号，MAF>=5%",null,"家族性高胆固醇血症","AD",143890,5,1,2,1,"PPP1R17",1,280,"同义",13203,"0.56=131/235",null,10842,"7p15","NM_001145123.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26065",41,41,1,{"$nulls":3},"A有","12309A","PPP2R4","chr9:131898880","IVS7+6A>G","剪切位点","rs1536548",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PPP2R4",0.98,100,"剪切位点",16202,"0.98=54/55",null,5524,"9q34","NM_001193397.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7907",226,101,0.45,{"$nulls":3},"A有","12309A","PRAMEF1","chr1:12856111","c.1391C>T(E4)","p.464,P>L","rs61775054",{"$nulls":4},0.49,0.5,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,15,0,"PRAMEF1",1,330,"错义",12320,"0.41=162/393",null,65121,"1p36.21","NM_023013.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15598",107,59,0.55,{"$nulls":3},"A有","12309A","PRAMEF12","chr1:12837634","c.1344T>A(E3)","p.448,I>I","rs848578",null,0.75,0.74,0.77,0.76,0.73,"杂合","未知","预测范围之外的同义突变",19479031,{"$nulls":3},4,null,3,0,"PRAMEF12",1,150,"同义",13303,"0.53=86/161",null,390999,"1p36.21","NM_001080830.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19578",70,70,1,{"$nulls":3},"A有","12309A","PRB4","chr12:11461292","c.418C>G(E4)","p.140,A>P","rs1052808",0.75,0.78,0.78,0.78,0.77,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PRB4",1,110,"错义",12220,"1.00=96/96",null,5545,"12p13.2","NM_001261399.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16543",30,30,1,{"$nulls":3},"A有","12309A","PREP","chr6:105726036","c.2116C>T(E15)","p.706,V>I","rs1051484",0.34,0.17,0.13,0.2,0.18,0.19,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PREP",1,230,"错义",12220,"1.00=50/50",null,5550,"6q22","NM_002726.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27126",5,3,0.6,{"$nulls":3},"A有","12309A","PREPL","chr2:44548282","m.2245T>C(E13)","非编码区","rs11124988",0.75,0.37,0.38,0.36,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"PREPL",1,250,"非编码区",14200,"0.67=4/6",null,9581,"2p21","NM_001042385.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26313",15,15,1,{"$nulls":3},"A有","12309A","PRIMA1","chr14:94245649","c.102A>G(E3)","p.34,H>H","rs4905087",0.59,0.27,0.3,0.25,0.25,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRIMA1",0.8,45,"同义",13203,"1.00=18/18",null,145270,"14q32.12","NM_178013.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31562",2,2,1,{"$nulls":3},"A有","12309A","PRMT7","chr16:68389772","c.1647C>T(E15)","p.549,T>T","rs1131933",0.56,0.79,0.8,0.79,0.66,0.78,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRMT7",1,80,"同义",13203,"1.00=2/2",null,54496,"16q22.1","NM_001184824.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21842",10,3,0.3,{"$nulls":3},"A有","12309A","PRNP","chr20:4680120-4680122","c.254(E2)至c.256(E2):缺失ATG","缺失非移码",{"$nulls":7},"杂合","未知","未知",null,"Creutzfeldt-Jakob病","AD",123400,3,1,1,6,"PRNP",1,66,"缺失非移码",2243,"0.27=3/11",null,5621,"20p13","NM_000311.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20994",29,15,0.52,{"$nulls":3},"A有","12309A","PROSER1","chr13:39587889","c.1500T>C(E11)","p.500,L>L","rs3751377",0.22,0.25,0.28,0.23,0.22,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"PROSER1",1,180,"同义",13203,"0.53=21/40",null,80209,"13q13.3","NM_025138.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18340",34,34,1,{"$nulls":3},"A有","12309A","PRPH2","chr6:42689755","c.318A>G(E1)","p.106,V>V","rs7764439",0.58,0.58,0.58,0.58,0.56,0.58,"纯合","无关","有rs号，MAF>=5%",22948568,"视网膜色素上皮细胞营养不良症","AD",169150,5,1,4,5,"PRPH2",1,66,"同义",13203,"1.00=48/48",null,5961,"6p21.2-p12.3","NM_000322.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5952",2,2,1,{"$nulls":3},"A有","12309A","PRR11","chr17:57279320","m.1723A>G(E10)","非编码区","rs8067347",0.89,0.73,0.73,0.72,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PRR11",1,290,"非编码区",14200,"1.00=3/3",null,55771,"17q22","NM_018304.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23713",2,2,1,{"$nulls":3},"A有","12309A","PRRT2","chr16:29826538","m.2065T>C(E3)","非编码区","rs10204",null,0.9,0.9,0.91,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"阵发性运动源性运动障碍1型","AD",128200,3,1,2,3,"PRRT2",1,29,"非编码区",14300,"1.00=2/2",null,112476,"16p11.2","NM_001256442.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12271",197,196,0.99,{"$nulls":3},"A有","12309A","PRTG","chr15:55921013","IVS16+7T>C","非编码区","rs7165971",0.43,0.97,0.95,0.98,null,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PRTG",1,210,"非编码区",16203,"1.00=301/302",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"]
["12309A(99)v21619",78,78,1,{"$nulls":3},"A有","12309A","PRUNE2","chr9:79318471","c.8058C>T(E9)","p.2686,L>L","rs560094",0.78,0.94,0.92,0.95,0.94,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,23,0,"PRUNE2",1,130,"同义",13203,"0.99=110/111",null,158471,"9q21.2","NM_015225.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21680",221,107,0.48,{"$nulls":3},"A有","12309A","PSG1","chr19:43372386","c.1110T>C(E5)","p.370,E>E","rs1064491",0.29,0.41,0.41,0.42,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"PSG1",1,330,"同义",13203,"0.48=182/377",null,5669,"19q13.2","NM_001184825.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29082",103,57,0.55,{"$nulls":3},"A有","12309A","PSG5","chr19:43690506","c.52G>C(E1)","p.18,L>V","rs8107936",0.73,0.98,0.98,0.98,0.97,0.97,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"PSG5",1,360,"错义",12220,"0.62=109/176",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"]
["12309A(99)v6145",226,100,0.44,{"$nulls":3},"A有","12309A","PSG9","chr19:43772270","c.96G>T(E2)","p.32,T>T","rs3746296",0.2,0.4,0.36,0.43,0.4,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"PSG9",1,250,"同义",13203,"0.41=155/382",null,5678,"19q13.2","NM_002784.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11857",88,88,1,{"$nulls":3},"A有","12309A","PSME2","chr14:24614361","c.266T>G(E6)","p.89,H>P","rs7146672",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"PSME2",1,140,"错义",12220,"1.00=141/141",null,5721,"14q11.2","NM_002818.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13743",2,2,1,{"$nulls":3},"A有","12309A","PTCH1","chr9:98209742","IVS22-9G>A","剪切位点","rs2236404",0.0046,0.022,0.024,0.019,0.031,0.032,"纯合","未知","剪切位点预测结果为无害",null,"前脑无裂畸形7型",null,610828,4,1,1,3,"PTCH1",1,100,"剪切位点",16102,"1.00=3/3",null,5727,"9q22.3","NM_000264.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27778",2,2,1,{"$nulls":3},"A有","12309A","PTEN","chr10:89623901","m.707G>C(E1)","非编码区","rs2943772",1,1,1,1,0.66,null,"纯合","无关","有rs号，MAF>=5%",null,"头颈部鳞状细胞癌","AR",275355,5,1,1,11,"PTEN",1,310,"非编码区",14200,"1.00=2/2",null,5728,"10q23.3","NM_000314.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23900",19,5,0.26,{"$nulls":3},"A有","12309A","PTGIS","chr20:48140635","c.815A>G(E6)","p.272,M>T","rs201480227",0.0052,0.0048,0.0095,0,0.02,0.018,"杂合","可能相关","蛋白结构预测结果为有害",null,"原发性高血压",null,145500,2,2,1,1,"PTGIS",0.95,57,"错义",12110,"0.25=9/36",null,5740,"20q13.13","NM_000961.3","位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["12309A(99)v16263",3,3,1,{"$nulls":3},"A有","12309A","PTPN22","chr1:114357211","m.2786G>A(E21)","非编码区","rs1217412",0.7,0.36,0.36,0.35,null,null,"纯合","无关","有rs号，MAF>=5%",null,"风湿性关节炎（易感）",null,180300,5,1,2,3,"PTPN22",1,240,"非编码区",14200,"1.00=4/4",null,26191,"1p13.2","NM_001193431.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20154",46,20,0.43,{"$nulls":3},"A有","12309A","PTPRE","chr10:129839193","c.48C>T(E3)","p.16,L>L","rs75709098",0.024,0.14,0.14,0.14,0.1,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"PTPRE",1,150,"同义",13103,"0.43=34/79",null,5791,"10q26","NM_006504.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6327",15,15,1,{"$nulls":3},"A有","12309A","PTPRN2","chr7:157414064","c.2334G>A(E15)","p.778,A>A","rs1130502",0.45,0.37,0.39,0.35,0.34,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"PTPRN2",0.92,52,"同义",13203,"0.96=25/26",null,5799,"7q36","NM_002847.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8110",49,49,1,{"$nulls":3},"A有","12309A","PUM1","chr1:31426815","c.2337A>G(E15)","p.779,N>N","rs2275741",0.36,0.34,0.36,0.33,0.27,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"PUM1",1,170,"同义",13203,"1.00=64/64",null,9698,"1p35.2","NM_001020658.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14511",176,176,1,{"$nulls":3},"A有","12309A","PXDNL","chr8:52325767","c.1847T>G(E15)","p.616,D>A","rs16916207",0.16,0.28,0.3,0.26,0.32,0.3,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"PXDNL",0.99,160,"错义",12210,"1.00=321/322",null,137902,"8q11.22-q11.23","NM_144651.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27512",122,55,0.45,{"$nulls":3},"A有","12309A","PZP","chr12:9315209","c.2772A>G(E22)","p.924,S>S","rs10771381",null,0.39,0.4,0.38,0.45,0.41,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"PZP",1,220,"同义",13303,"0.45=90/199",null,5858,"12p13-p12.2","NM_002864.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4531",10,4,0.4,{"$nulls":3},"A有","12309A","R3HDM4","chr19:901507","c.266A>G(E3)","p.89,L>P","rs77971861",0.09,0.22,0.26,0.17,0.17,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"R3HDM4",0.91,13,"错义",12220,"0.35=6/17",null,91300,"19p13.3","NM_138774.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19529",163,163,1,{"$nulls":3},"A有","12309A","RAB10","chr2:26321526","IVS1-5T>C","剪切位点","rs11678157",0.76,0.88,0.85,0.9,0.86,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RAB10",1,290,"剪切位点",16202,"1.00=324/324",null,10890,"2p23.3","NM_016131.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22814",90,90,1,{"$nulls":3},"A有","12309A","RABEP1","chr17:5284770","c.2358G>A(E16)","p.786,R>R","rs1065483",0.68,0.96,0.97,0.95,0.95,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RABEP1",0.99,230,"同义",13203,"1.00=148/148",null,9135,"17p13.2","NM_001083585.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30988",52,27,0.52,{"$nulls":3},"A有","12309A","RAD51D","chr17:33445549","c.234G>A(E3)","p.78,S>S","rs9901455",0.19,0.21,0.23,0.2,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",null,"家族性乳腺癌-卵巢癌易感4型",null,614291,5,2,1,1,"RAD51D",1,98,"同义",13203,"0.49=46/94",null,5892,"17q11","NM_002878.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17870",16,6,0.38,{"$nulls":3},"A有","12309A","RALB","chr2:121050989","m.964T>A(E5)","非编码区","rs1065518",0.63,0.4,0.41,0.38,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RALB",1,170,"非编码区",14200,"0.37=7/19",null,5899,"2q14.2","NM_002881.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16406",103,48,0.47,{"$nulls":3},"A有","12309A","RAPGEF6","chr5:130766662","c.4379T>C(E27)","p.1460,Q>R","rs1291602",0.9,0.9,0.9,0.9,0.89,0.89,"杂合","无关","有rs号，MAF>=5%","18799291;18804346",{"$nulls":3},5,null,1,0,"RAPGEF6",1,260,"错义",12220,"0.48=72/149",null,51735,"5q31.1","NM_001164386.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18593",232,231,1,{"$nulls":3},"A有","12309A","RASA2","chr3:141326602","c.2016T>C(E20)","p.672,N>N","rs295322",0.17,0.22,0.21,0.24,0.24,0.28,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RASA2",0.97,280,"剪切位点",13202,"1.00=436/438",null,5922,"3q22-q23","NM_006506.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3840",84,40,0.48,{"$nulls":3},"A有","12309A","RBAK","chr7:5104275","c.1188G>A(E6)","p.396,T>T","rs12674330",0.18,0.42,0.45,0.39,0.37,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"RBAK",1,170,"同义",13203,"0.48=59/124",null,57786,"7p22.1","NM_001204456.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8244",22,9,0.41,{"$nulls":3},"A有","12309A","RBM15","chr1:110883917","c.1890A>G(E1)","p.630,R>R","rs3738751",0.07,0.27,0.25,0.28,0.23,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RBM15",1,72,"同义",13203,"0.44=15/34",null,64783,"1p13","NM_001201545.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23734",12,5,0.42,{"$nulls":3},"A有","12309A","RBM43","chr2:152118338-152118339","m.52(E1)至m.51(E1):插入T","非编码区","rs35240993",0.68,0.59,0.54,0.64,0.036,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,4,0,"RBM43",1,210,"非编码区",2420,"0.47=8/17",null,375287,"2q23.3","NM_198557.2","位于基因组单拷贝区域+简单重复结构","非阳性"]
["12309A(99)v27736",3,3,1,{"$nulls":3},"A有","12309A","RCBTB1","chr13:50107973","m.2142G>C(E13)","非编码区","rs3186012",0.42,0.45,0.45,0.45,null,null,"纯合","无关","有rs号，MAF>=5%",null,"酒精依赖症",null,103780,5,1,5,1,"RCBTB1",1,190,"非编码区",14200,"1.00=3/3",null,55213,"13q14","NM_018191.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7792",9,9,1,{"$nulls":3},"A有","12309A","RECQL4","chr8:145737636","c.3128A>G(E18)","p.1043,L>P","rs4925828",0.95,0.82,0.83,0.81,0.67,0.78,"纯合","无关","有rs号，MAF>=5%",null,"Rothmund-Thomson综合征","AR",268400,5,1,2,3,"RECQL4",0.87,13,"错义",12210,"1.00=14/14",null,9401,"8q24.3","NM_004260.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28270",42,7,0.17,{"$nulls":3},"A有","12309A","REST","chr4:57797253","c.2229G>A(E4)","p.743,E>E","rs3796530",0.068,0.082,0.067,0.097,0.072,0.01,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"REST",1,130,"同义",13203,"0.15=8/55",null,5978,"4q12","NM_001193508.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20839",12,12,1,{"$nulls":3},"A有","12309A","RET","chr10:43622368","m.3575T>A(E19)","非编码区","rs2075913",0.66,0.41,0.42,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",null,"噬铬细胞瘤","AD",171300,5,1,7,7,"RET",0.95,62,"非编码区",14200,"1.00=13/13",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"]
["12309A(99)v9554",10,3,0.3,{"$nulls":3},"A有","12309A","REXO1","chr19:1819125","c.2656T>C(E8)","p.886,S>G","rs2396359",0.38,0.38,0.39,0.37,0.32,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"REXO1",0.85,13,"错义",12210,"0.44=7/16",null,57455,"19p13.3","NM_020695.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27832",23,23,1,{"$nulls":3},"A有","12309A","RFX5","chr1:151316161","c.753G>A(E9)","p.251,L>L","rs1752386",0.98,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"裸淋巴细胞综合征2型","AR",209920,5,1,1,1,"RFX5",1,85,"同义",13203,"1.00=28/28",null,5993,"1q21","NM_000449.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18633",16,16,1,{"$nulls":3},"A有","12309A","RGS11","chr16:319511","c.1217A>G(E16)","p.406,M>T","rs739999",0.31,0.35,0.34,0.37,0.26,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RGS11",0.77,17,"错义",12220,"1.00=24/24",null,8786,"16p13.3","NM_003834.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9958",52,51,0.98,{"$nulls":3},"A有","12309A","RGS18","chr1:192127637","m.46T>G(E1)","非编码区","rs4495675",0.44,0.74,0.75,0.72,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RGS18",1,250,"非编码区",14200,"0.98=60/61",null,64407,"1q31.2","NM_130782.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9473",51,25,0.49,{"$nulls":3},"A有","12309A","RHCE","chr1:25717365","c.676C>G(E5)","p.226,A>P","rs609320",0.14,0.21,0.17,0.25,0.27,0.24,"杂合","无关","有rs号，MAF>=5%",21257350,"血型--RHESUS 系统 E POLYPEPTIDE;  RHE",null,111690,5,2,2,1,"RHCE",1,210,"错义",12210,"0.45=34/75",null,6006,"1p36.11","NM_020485.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14558",4,4,1,{"$nulls":3},"A有","12309A","RIBC2","chr22:45826880","c.988G>A(E6)","p.330,G>S","rs2072770",0.71,0.71,0.69,0.72,0.62,0.74,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"RIBC2",1,110,"错义",12230,"1.00=5/5",null,26150,"22q13.31","NM_015653.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21537",67,67,1,{"$nulls":3},"A有","12309A","RIMKLB","chr12:8926011","c.792T>C(E7)","p.264,D>D","rs2969089",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RIMKLB",1,150,"同义",13303,"1.00=108/108",null,57494,"12p13.31","NM_020734.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22701",150,65,0.43,{"$nulls":3},"A有","12309A","RNASEL","chr1:182551337","c.1623A>C(E4)","p.541,D>E","rs627928",0.48,0.71,0.7,0.73,0.7,0.72,"杂合","无关","有rs号，MAF>=5%","18575592;19567509","遗传性前列腺癌1型","AD",601518,5,1,1,1,"RNASEL",1,160,"错义",12220,"0.43=112/262",null,6041,"1q25","NM_021133.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7923",33,18,0.55,{"$nulls":3},"A有","12309A","RND1","chr12:49251740","m.841G>A(E5)","非编码区","rs188129600",0.0008,0.0096,0.014,0.0049,null,0.0071,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"RND1",1,120,"非编码区",14100,"0.62=30/48",null,27289,"12q12","NM_014470.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31342",45,44,0.98,{"$nulls":3},"A有","12309A","RNF157","chr17:74152366","c.1450A>G(E14)","p.484,L>L","rs881502",0.31,0.21,0.23,0.19,0.18,0.2,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RNF157",1,120,"同义",13203,"0.99=74/75",null,114804,"17q25.1","NM_052916.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23862",27,17,0.63,{"$nulls":3},"A有","12309A","RNF44","chr5:175956516","IVS9+8G>A","非编码区","rs2241585",0.49,0.45,0.47,0.44,null,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RNF44",0.97,26,"非编码区",16203,"0.56=20/36",null,22838,"5q35.2","NM_014901.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19688",144,144,1,{"$nulls":3},"A有","12309A","ROR1","chr1:64515379","c.180C>T(E3)","p.60,L>L","rs1772626",0.78,0.95,0.94,0.97,0.96,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ROR1",0.97,150,"同义",13203,"1.00=221/222",null,4919,"1p32-p31","NM_001083592.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v435",49,21,0.43,{"$nulls":3},"A有","12309A","ROR2","chr9:94486688","c.2088G>A(E9)","p.696,Y>Y","rs10992063",0.42,0.39,0.41,0.36,0.36,0.4,"杂合","无关","有rs号，MAF>=5%",null,"短指症B1型","AD",113000,5,1,3,2,"ROR2",0.96,55,"同义",13203,"0.45=35/77",null,4920,"9q22","NM_004560.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23332",72,72,1,{"$nulls":3},"A有","12309A","RPGR","chrX:38144822","c.3430C>T(E15)","p.1144,V>I","rs12688514",null,0.36,0.32,0.4,0.37,0.41,"纯合","未知","蛋白结构预测结果为容忍或无害",null,"视网膜色素变性3型-XR/15型",null,300029,3,1,2,4,"RPGR",0.96,120,"错义",12320,"1.00=120/120",null,6103,"Xp21.1","NM_001034853.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30580",163,84,0.52,{"$nulls":3},"A有","12309A","RPL27A","chr11:8707233","c.327C>T(E5)","p.109,Y>Y","rs6735",0.19,0.27,0.3,0.25,0.26,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RPL27A",1,240,"同义",13203,"0.48=127/263",null,6157,"11p15","NM_000990.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17219",79,41,0.52,{"$nulls":3},"A有","12309A","RPN1","chr3:128344786","c.1206G>A(E7)","p.402,D>D","rs1126828",0.24,0.44,0.44,0.44,0.43,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RPN1",0.96,140,"同义",13203,"0.50=70/141",null,6184,"3q21.3","NM_002950.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4050",5,5,1,{"$nulls":3},"A有","12309A","RPTOR","chr17:78935197","c.3135C>T(E27)","p.1045,R>R","rs9899178",0.31,0.56,0.56,0.57,0.49,0.57,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"RPTOR",1,75,"同义",13203,"1.00=7/7",null,57521,"17q25.3","NM_001163034.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31411",62,62,1,{"$nulls":3},"A有","12309A","RRNAD1","chr1:156705593","c.713G>C(E6)","p.238,R>P","rs4311877",0.97,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"RRNAD1",1,67,"错义",12220,"1.00=130/130",null,51093,"1q23.1","NM_001142560.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29933",31,31,1,{"$nulls":3},"A有","12309A","RRP8","chr11:6622714","c.582G>A(E3)","p.194,N>N","rs2288283",0.74,0.9,0.91,0.88,0.83,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RRP8",1,94,"同义",13203,"1.00=36/36",null,23378,"11p15.4","NM_015324.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16688",233,90,0.39,{"$nulls":3},"A有","12309A","RSPH4A","chr6:116950734","c.1667G>A(E4)","p.556,R>H","rs6927567",0.2,0.25,0.23,0.28,0.27,0.31,"杂合","无关","有rs号，MAF>=5%",null,"原发性纤毛运动障碍11型",null,612649,5,2,2,1,"RSPH4A",1,190,"错义",12210,"0.38=168/447",null,345895,"6q22.1","NM_001010892.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18439",27,13,0.48,{"$nulls":3},"A有","12309A","RTP2","chr3:187416253","m.1140C>T(E2)","非编码区","rs1523468",0.49,0.81,0.79,0.82,null,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"RTP2",1,29,"非编码区",14200,"0.51=24/47",null,344892,"3q27.3","NM_001004312.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18380",10,10,1,{"$nulls":3},"A有","12309A","RXFP4","chr1:155912486","c.986T>C(E1)","p.329,L>S","rs2152051",0.92,1,1,1,0.87,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"RXFP4",1,36,"错义",12220,"1.00=11/11",null,339403,"1q22","NM_181885.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24563",98,39,0.4,{"$nulls":3},"A有","12309A","RYR1","chr19:38959680","c.3456C>T(E26)","p.1152,I>I","rs11083462",0.45,0.53,0.54,0.53,0.49,0.44,"杂合","无关","有rs号，MAF>=5%","17033962;16917943;19513315","中央轴空病","AD,AR",117000,5,1,8,3,"RYR1",0.98,57,"同义",13203,"0.42=72/172",null,6261,"19q13.1","NM_000540.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27688",113,112,0.99,{"$nulls":3},"A有","12309A","RYR3","chr15:34016274","c.6809G>A(E45)","p.2270,G>E","rs6495228",0.88,0.98,0.99,0.97,0.98,0.98,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"RYR3",1,180,"错义",12220,"0.99=196/197",null,6263,"15q14-q15","NM_001036.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13496",13,8,0.62,{"$nulls":3},"A有","12309A","SALL2","chr14:21991626","c.2236C>G(E2)","p.746,G>R","rs1263810",0.24,0.25,0.23,0.28,0.18,0.28,"杂合","无关","有rs号，MAF>=5%",null,"常染色体隐性遗传性眼组织缺损","AR",216820,5,3,2,1,"SALL2",1,51,"错义",12220,"0.62=10/16",null,6297,"14q11.1-q12","NM_005407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21255",87,86,0.99,{"$nulls":3},"A有","12309A","SAMD9L","chr7:92760502","m.5999G>A(E5)","非编码区","rs4268",0.57,0.61,0.61,0.61,null,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SAMD9L",1,140,"非编码区",14200,"0.99=143/144",null,219285,"7q21.2","NM_152703.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10958",8,8,1,{"$nulls":3},"A有","12309A","SART1","chr11:65735174","c.1454G>C(E12)","p.485,G>A","rs660118",0.37,0.5,0.5,0.5,0.46,0.59,"纯合","无关","有rs号，MAF>=5%",19377877,{"$nulls":3},5,null,3,0,"SART1",1,43,"错义",12220,"1.00=14/14",null,9092,"11q13.1","NM_005146.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17084",9,6,0.67,{"$nulls":3},"A有","12309A","SCAMP3","chr1:155232074","m.103C>T(E1)","非编码区","rs1046188",0.45,0.76,0.75,0.78,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SCAMP3",1,86,"非编码区",14200,"0.60=6/10",null,10067,"1q21","NM_005698.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16394",17,3,0.18,{"$nulls":3},"A有","12309A","SCGB1C1","chr11:193096","m.17T>C(E1)","非编码区","rs2280539",{"$nulls":4},0.39,0.44,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"SCGB1C1",1,100,"非编码区",14300,"0.17=4/24",null,147199,"11p15.5","NM_145651.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23819",41,22,0.54,{"$nulls":3},"A有","12309A","SCML4","chr6:108093580","m.203C>T(E2)","非编码区","rs6909292",0.46,0.71,0.71,0.71,null,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SCML4",1,66,"非编码区",14200,"0.49=26/53",null,256380,"6q21","NM_198081.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4760",39,20,0.51,{"$nulls":3},"A有","12309A","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,"乙酰唑胺反应性重症肌无力综合症",null,614198,5,2,4,5,"SCN4A",1,63,"同义",13203,"0.52=35/67",null,6329,"17q23.3","NM_000334.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15839",31,16,0.52,{"$nulls":3},"A有","12309A","SCN5A","chr3:38592406","c.5454A>G(E28)","p.1818,D>D","rs1805126",0.49,0.57,0.58,0.56,0.53,0.55,"杂合","无关","有rs号，MAF>=5%","17534376;18368697;23463857;24987407","扩张性心肌病1E型","AD",601154,5,1,4,8,"SCN5A",1,82,"同义",13203,"0.44=17/39",null,6331,"3p21","NM_000335.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15840",8,5,0.62,{"$nulls":3},"A有","12309A","SCN5A","chr3:38674712","c.87T>C(E2)","p.29,A>A","rs6599230",0.78,0.7,0.7,0.71,0.63,0.69,"杂合","无关","有rs号，MAF>=5%",18368697,"Brugada综合征1型","AD",601144,5,1,4,8,"SCN5A",1,82,"同义",13203,"0.60=6/10",null,6331,"3p21","NM_000335.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8060",117,70,0.6,{"$nulls":3},"A有","12309A","SCN9A","chr2:167168093","c.174C>T(E2)","p.58,Q>Q","rs6432901",0.57,0.39,0.38,0.39,0.4,0.44,"杂合","无关","有rs号，MAF>=5%",null,"原发性红斑性肢痛症","AD",133020,5,1,7,5,"SCN9A",1,280,"同义",13203,"0.58=109/188",null,6335,"2q24","NM_002977.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7433",9,9,1,{"$nulls":3},"A有","12309A","SCRIB","chr8:144895553","IVS5-9G>A","剪切位点","rs13251492",0.35,0.61,0.66,0.57,0.62,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SCRIB",0.83,12,"剪切位点",16202,"1.00=10/10",null,23513,"8q24.3","NM_015356.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v232",103,48,0.47,{"$nulls":3},"A有","12309A","SCYL3","chr1:169823718","c.1700T>C(E12)","p.567,Q>R","rs4656197",null,0.65,0.63,0.67,0.66,0.67,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"SCYL3",1,220,"错义",12320,"0.44=64/147",null,57147,"1q24.2","NM_020423.6","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v945",45,45,1,{"$nulls":3},"A有","12309A","SEBOX","chr17:26691321","c.620A>G(E3)","p.207,L>S","rs9910163",0.88,1,1,1,0.96,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SEBOX",1,32,"错义",12220,"1.00=70/70",null,645832,"17q11.2","NM_001080837.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12377",85,84,0.99,{"$nulls":3},"A有","12309A","SEC23B","chr20:18511456","IVS10+9A>G","非编码区","rs6081189",0.92,1,1,1,0.56,1,"纯合","无关","有rs号，MAF>=5%",null,"先天性红细胞生成异常性贫血II型","AR",224100,5,1,2,1,"SEC23B",1,220,"非编码区",16203,"0.99=119/120",null,10483,"20p11.23","NM_001172745.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13729",82,38,0.46,{"$nulls":3},"A有","12309A","SEMA3B","chr3:50311900","c.1240C>T(E12)","p.414,L>L","rs2071203",0.22,0.63,0.67,0.6,0.53,0.6,"杂合","无关","有rs号，MAF>=5%",19683737,{"$nulls":3},5,null,1,0,"SEMA3B",0.89,30,"同义",13203,"0.45=60/134",null,7869,"3p21.3","NM_001005914.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21193",322,322,1,{"$nulls":3},"A有","12309A","SENP6","chr6:76369054","c.606A>G(E7)","p.202,R>R","rs507662",0.9,0.85,0.86,0.84,0.87,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SENP6",1,290,"同义",13203,"1.00=593/595",null,26054,"6q13-q14.3","NM_001100409.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14840",4,4,1,{"$nulls":3},"A有","12309A","SERHL2","chr22:42970242","m.1228G>A(E12)","非编码区","rs137056",0.95,0.99,0.99,0.99,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SERHL2",1,160,"非编码区",14200,"1.00=4/4",null,253190,"22q13","NM_014509.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1927",189,83,0.44,{"$nulls":3},"A有","12309A","SERPINB11","chr18:61383354","c.443C>T(E5)","p.148,T>M","rs17071550",0.14,0.2,0.2,0.21,0.17,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"SERPINB11",1,220,"错义",12220,"0.44=137/311",null,89778,"-","NM_080475.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v254",65,28,0.43,{"$nulls":3},"A有","12309A","SERPINF1","chr17:1675378","IVS5+9G>A","非编码区","rs12103559",0.13,0.13,0.16,0.097,0.13,0.13,"杂合","无关","有rs号，MAF>=5%",null,"成骨不全6型",null,613982,5,2,4,1,"SERPINF1",1,120,"非编码区",16203,"0.39=39/101",null,5176,"17p13.3","NM_002615.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11150",57,57,1,{"$nulls":3},"A有","12309A","SETD1B","chr12:122243905","c.438C>T(E3)","p.146,I>I","rs1168666",0.75,0.94,0.95,0.93,0.94,0.95,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SETD1B",0.9,31,"同义",13203,"1.00=96/96",null,23067,"12q24.31","NM_015048.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7557",59,28,0.47,{"$nulls":3},"A有","12309A","SETX","chr9:135203231","c.3754C>T(E10)","p.1252,G>R","rs1183768",0.56,0.36,0.34,0.37,0.31,0.3,"杂合","无关","有rs号，MAF>=5%",null,"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",1,210,"错义",12220,"0.53=42/80",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"]
["12309A(99)v23108",8,2,0.25,{"$nulls":3},"A有","12309A","SFTPA2","chr10:81316048","m.1761C>T(E6)","非编码区","rs17884357",0.11,0.29,0.28,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",null,"特发性肺纤维化，易感","AD",178500,5,1,7,1,"SFTPA2",1,120,"非编码区",14200,"0.25=2/8",null,729238,"10q22.3","NM_001098668.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25448",25,11,0.44,{"$nulls":3},"A有","12309A","SGCZ","chr8:15095085","IVS1+9C>G","非编码区","rs4831331",0.48,0.32,0.35,0.3,0.29,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SGCZ",1,240,"非编码区",16203,"0.42=20/48",null,137868,"8p22","NM_139167.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28963",10,5,0.5,{"$nulls":3},"A有","12309A","SGTB","chr5:64965900","m.1308T>C(E11)","非编码区","rs1549192",0.17,0.15,0.2,0.11,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SGTB",1,350,"非编码区",14200,"0.58=7/12",null,54557,"5q12.3","NM_019072.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29149",21,7,0.33,{"$nulls":3},"A有","12309A","SH3GLB2","chr9:131772389","IVS8+10T>G","非编码区","rs3750340",0.84,0.68,0.68,0.68,null,0.65,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SH3GLB2",0.91,35,"非编码区",16203,"0.37=11/30",null,56904,"9q34","NM_020145.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16529",80,39,0.49,{"$nulls":3},"A有","12309A","SHBG","chr17:7530147","otherG>C","非编码区","rs858521",0.28,0.28,0.29,0.28,null,0.28,"杂合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,2,0,"SHBG",1,110,"非编码区",17000,"0.51=63/124",null,6462,"17p13-p12","NM_001040.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16530",73,41,0.56,{"$nulls":3},"A有","12309A","SHBG","chr17:7530271","otherC>T","非编码区","rs858520",0.27,0.29,0.3,0.28,0.27,0.28,"杂合","无关","突变在基因上，但不属于任何转录变体",{"$nulls":4},5,null,2,0,"SHBG",1,110,"非编码区",17000,"0.51=62/122",null,6462,"17p13-p12","NM_001040.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17520",10,9,0.9,{"$nulls":3},"A有","12309A","SIGLEC1","chr20:3675498","c.2756T>G(E11)","p.919,H>P","rs709012",0.74,0.88,0.9,0.86,0.8,0.87,"纯合","无关","有rs号，MAF>=5%",17878941,{"$nulls":3},5,null,9,0,"SIGLEC1",0.99,24,"错义",12220,"0.93=14/15",null,6614,"20p13","NM_023068.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17523",27,27,1,{"$nulls":3},"A有","12309A","SIGLEC1","chr20:3682275","c.1242A>G(E6)","p.414,T>T","rs1018492",0.72,0.77,0.81,0.72,0.67,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"SIGLEC1",0.99,24,"同义",13203,"1.00=37/37",null,6614,"20p13","NM_023068.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10675",12,10,0.83,{"$nulls":3},"A有","12309A","SIRPA","chr20:1918305","m.1966G>A(E9)","非编码区","rs2235747",0.21,0.48,0.5,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SIRPA",0.95,160,"非编码区",14200,"0.86=12/14",null,140885,"20p13","NM_001040022.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14653",65,38,0.58,{"$nulls":3},"A有","12309A","SIX4","chr14:61180657","c.1814T>G(E3)","p.605,H>P","rs3742636",0.65,0.66,0.68,0.64,0.62,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SIX4",0.99,82,"错义",12210,"0.52=48/92",null,51804,"14q23","NM_017420.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17868",85,85,1,{"$nulls":3},"A有","12309A","SLC11A1","chr2:219254622","c.825A>G(E9)","p.275,A>A","rs2695342",0.98,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"Buruli溃疡",null,610446,5,1,1,2,"SLC11A1",1,60,"同义",13203,"1.00=142/142",null,6556,"2q35","NM_000578.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31447",11,4,0.36,{"$nulls":3},"A有","12309A","SLC14A1","chr18:43307246","c.10C>T(E3)","p.4,R>W","rs11877062",0.4,0.5,0.52,0.48,0.5,0.54,"杂合","无关","有rs号，MAF>=5%",null,"血型--KIDD 系统;  JK",null,111000,5,2,3,1,"SLC14A1",1,190,"错义",12220,"0.46=11/24",null,6563,"18q11-q12","NM_001128588.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12075",123,62,0.5,{"$nulls":3},"A有","12309A","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","单羧酸转运体1缺陷","AD,AR",616095,5,1,1,3,"SLC16A1",1,150,"错义",12220,"0.51=91/179",null,6566,"1p12","NM_001166496.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6591",120,66,0.55,{"$nulls":3},"A有","12309A","SLC1A1","chr9:4576680","c.1110T>C(E10)","p.370,T>T","rs301430",0.46,0.62,0.62,0.63,0.61,0.61,"杂合","无关","有rs号，MAF>=5%","16818867;17894418;19349310;19360657;20155310;23411042;23564280;23931931","二羧基氨基酸尿症","AR",222730,5,3,1,2,"SLC1A1",1,180,"同义",13203,"0.59=120/203",null,6505,"9p24","NM_004170.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8924",152,76,0.5,{"$nulls":3},"A有","12309A","SLC22A16","chr6:110777962","c.312A>G(E2)","p.104,N>N","rs6907567",0.31,0.46,0.42,0.5,0.44,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLC22A16",0.97,190,"同义",13203,"0.50=135/270",null,85413,"6q22.1|6q21-q22.1","NM_033125.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24481",3,2,0.67,{"$nulls":3},"A有","12309A","SLC22A6","chr11:62752182","m.314T>C(E1)","非编码区","rs4149171",0.23,0.31,0.28,0.33,null,0.27,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLC22A6",1,39,"非编码区",14200,"0.75=3/4",null,9356,"11q12.3","NM_004790.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23389",92,92,1,{"$nulls":3},"A有","12309A","SLC25A12","chr2:172725301","c.99A>G(E3)","p.33,Y>Y","rs1878583",0.79,0.91,0.92,0.9,0.9,0.9,"纯合","无关","有rs号，MAF>=5%",null,"大脑整体性低髓鞘化","AR",612949,5,1,1,1,"SLC25A12",1,250,"同义",13203,"1.00=141/141",null,8604,"2q24","NM_003705.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18060",190,83,0.44,{"$nulls":3},"A有","12309A","SLC25A30","chr13:45978486","c.369A>C(E5)","p.123,I>M","rs200588795",0.0004,0.0024,0,0.0049,0.0046,0.0032,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"SLC25A30",1,260,"错义",12120,"0.45=150/335",null,253512,"13q14.13","NM_001010875.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26033",119,24,0.2,{"$nulls":3},"A有","12309A","SLC27A6","chr5:128362908-128362914","c.1338(E7)至c.1344(E7):缺失CAAATTG","缺失移码",{"$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",{"$nulls":4},1,null,6,0,"SLC27A6",1,210,"缺失移码",2140,"0.18=24/134",null,28965,"5q23.3","NM_001017372.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26098",97,31,0.32,{"$nulls":3},"A有","12309A","SLC2A14","chr12:7966908","m.1684T>C(E12)","非编码区","rs3741856",{"$nulls":5},0.31,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"SLC2A14",0.94,250,"非编码区",14300,"0.32=47/146",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"]
["12309A(99)v18373",38,22,0.58,{"$nulls":3},"A有","12309A","SLC30A8","chr8:118185041","m.1404C>T(E10)","非编码区","rs2466295",0.56,0.84,0.84,0.83,null,null,"杂合","无关","有rs号，MAF>=5%",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,6,1,"SLC30A8",1,180,"非编码区",14200,"0.56=23/41",null,169026,"8q24.11","NM_001172811.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13868",40,20,0.5,{"$nulls":3},"A有","12309A","SLC35G5","chr8:11188540","m.46A>G(E1)","非编码区","rs13253735",0.43,0.75,0.75,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"SLC35G5",1,82,"非编码区",14200,"0.49=32/65",null,83650,"8p23.1","NM_054028.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10737",19,6,0.32,{"$nulls":3},"A有","12309A","SLC37A2","chr11:124955032","c.1245T>C(E14)","p.415,D>D","rs948268",0.67,0.44,0.39,0.5,0.43,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLC37A2",1,71,"同义",13203,"0.29=8/28",null,219855,"11q24.2","NM_001145290.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7199",41,41,1,{"$nulls":3},"A有","12309A","SLC41A3","chr3:125775228","c.168T>C(E1)","p.56,T>T","rs7613944",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SLC41A3",1,80,"同义",13203,"1.00=66/66",null,54946,"3q21.2","NM_001008487.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4027",39,38,0.97,{"$nulls":3},"A有","12309A","SLC44A4","chr6:31839309","c.433C>T(E7)","p.145,V>I","rs2242665",0.62,0.61,0.65,0.57,0.61,0.61,"纯合","无关","有rs号，MAF>=5%",24934404,{"$nulls":3},5,null,3,0,"SLC44A4",0.68,34,"错义",12220,"0.98=54/55",null,80736,"6p21.3","NM_001178044.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17113",37,37,1,{"$nulls":3},"A有","12309A","SLC4A5","chr2:74482892","IVS8+10T>C","非编码区","rs7602215",0.25,0.34,0.3,0.38,null,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SLC4A5",1,95,"非编码区",16203,"1.00=61/61",null,57835,"2p13","NM_021196.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14294",75,75,1,{"$nulls":3},"A有","12309A","SLC5A12","chr11:26692631","m.2188A>G(E15)","非编码区","rs7128384",{"$nulls":5},0.46,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,8,0,"SLC5A12",1,230,"非编码区",14300,"1.00=116/116",null,159963,"11p14.2","NM_178498.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6637",37,37,1,{"$nulls":3},"A有","12309A","SLC6A19","chr5:1216775","c.990A>G(E7)","p.330,T>T","rs4975629",0.84,0.67,0.68,0.66,0.63,0.7,"纯合","无关","有rs号，MAF>=5%",null,"家族性肾原型亚甘氨酸尿症","AR",242600,5,1,2,3,"SLC6A19",1,38,"同义",13203,"1.00=70/70",null,340024,"5p15.33","NM_001003841.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8687",62,62,1,{"$nulls":3},"A有","12309A","SLC7A3","chrX:70146398","c.1599A>G(E10)","p.533,S>S","rs4360450",null,1,1,1,0.97,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"SLC7A3",1,79,"同义",13303,"1.00=102/102",null,84889,"Xq13.1","NM_001048164.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4653",131,130,0.99,{"$nulls":3},"A有","12309A","SLC9C1","chr3:112005691","m.170C>G(E2)","非编码区","rs79950192",0.12,0.21,0.22,0.2,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLC9C1",1,320,"非编码区",14200,"0.99=206/209",null,285335,"3q13.2","NM_183061.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18057",112,111,0.99,{"$nulls":3},"A有","12309A","SLCO1C1","chr12:20893108","IVS9-10C>T","剪切位点","rs2271656",0.44,0.61,0.6,0.61,null,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SLCO1C1",1,280,"剪切位点",16202,"0.99=165/166",null,53919,"12p12.2","NM_001145944.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30585",55,28,0.51,{"$nulls":3},"A有","12309A","SLFN13","chr17:33772658","c.42G>T(E3)","p.14,Y>X","rs8072510",0.093,0.15,0.12,0.18,0.14,0.13,"杂合","无关","理论上这种无义突变会导致蛋白翻译提前终止，高频MAF>=5%",{"$nulls":4},5,null,7,0,"SLFN13",1,190,"截断",15200,"0.49=37/75",null,146857,"17q12","NM_144682.5","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1395",74,27,0.36,{"$nulls":3},"A有","12309A","SLMO2","chr20:57610059","m.614C>A(E5)","非编码区","rs151358",0.17,0.12,0.14,0.1,null,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SLMO2",1,180,"非编码区",14200,"0.29=34/118",null,51012,"20q13.32","NM_001256403.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3372",141,140,0.99,{"$nulls":3},"A有","12309A","SMARCAD1","chr4:95170839","c.740G>A(E7)","p.247,S>N","rs11722476",0.46,0.71,0.68,0.73,0.67,0.72,"纯合","无关","有rs号，MAF>=5%",22864933,"皮纹病","AD",136000,5,1,4,1,"SMARCAD1",1,280,"错义",12220,"0.99=243/246",null,56916,"4q22-q23","NM_001128429.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23135",25,25,1,{"$nulls":3},"A有","12309A","SMG6","chr17:2203167","c.880T>G(E2)","p.294,K>Q","rs216195",0.4,0.64,0.64,0.64,0.57,0.63,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SMG6",0.98,120,"错义",12220,"1.00=34/34",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"]
["12309A(99)v6091",141,141,1,{"$nulls":3},"A有","12309A","SMR3A","chr4:71232430","c.124T>C(E3)","p.42,C>R","rs10024123",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"SMR3A",1,320,"错义",12220,"1.00=246/246",null,26952,"4q13.3","NM_012390.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13208",4,2,0.5,{"$nulls":3},"A有","12309A","SNAPC4","chr9:139273288","c.2991C>T(E21)","p.997,E>E","rs3829112",0.19,0.25,0.26,0.24,0.18,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"SNAPC4",0.93,46,"同义",13203,"0.40=2/5",null,6621,"9q34.3","NM_003086.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17776",85,85,1,{"$nulls":3},"A有","12309A","SNRNP48","chr6:7601720","c.558C>T(E5)","p.186,S>S","rs3734586",0.3,0.51,0.52,0.51,0.43,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"SNRNP48",1,210,"同义",13203,"1.00=145/145",null,154007,"6p24.3","NM_152551.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2311",24,12,0.5,{"$nulls":3},"A有","12309A","SNX18","chr5:53815066","c.1284C>A(E1)","p.428,I>I","rs2548613",0.35,0.3,0.29,0.31,0.23,0.28,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SNX18",0.85,59,"同义",13203,"0.50=17/34",null,112574,"5q11.2","NM_001102575.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6764",11,6,0.55,{"$nulls":3},"A有","12309A","SNX30","chr9:115631329-115631330","m.1668(E9)至m.1669(E9):缺失TC","非编码区","rs35971152",0.25,0.51,0.49,0.53,0.025,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,6,0,"SNX30",0.88,150,"非编码区",2420,"0.58=7/12",null,401548,"9q32","NM_001012994.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10745",37,37,1,{"$nulls":3},"A有","12309A","SOGA3","chr6:127797374","c.1797G>A(E6)","p.599,N>N","rs3734450",0.35,0.73,0.76,0.7,0.66,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SOGA3",0.8,47,"同义",13203,"0.98=59/60",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"]
["12309A(99)v9141",95,47,0.49,{"$nulls":3},"A有","12309A","SORCS2","chr4:7716910","c.2124C>T(E17)","p.708,C>C","rs28531835",0.17,0.2,0.22,0.17,0.18,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"SORCS2",0.86,60,"剪切位点",13202,"0.50=81/162",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"]
["12309A(99)v18316",146,146,1,{"$nulls":3},"A有","12309A","SP110","chr2:231072709","c.913C>T(E9)","p.305,G>R","rs1365776",0.8,0.89,0.9,0.89,0.78,0.89,"纯合","无关","有rs号，MAF>=5%",16803959,"肝静脉闭塞病伴免疫缺陷","AR",235550,5,1,3,2,"SP110",0.99,200,"错义",12220,"1.00=249/249",null,3431,"2q37.1","NM_001185015.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22744",203,99,0.49,{"$nulls":3},"A有","12309A","SPARCL1","chr4:88416188","c.146G>T(E4)","p.49,A>D","rs13051",0.58,0.42,0.37,0.46,0.42,0.43,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SPARCL1",1,190,"错义",12220,"0.46=173/375",null,8404,"4q22.1","NM_001128310.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13415",121,121,1,{"$nulls":3},"A有","12309A","SPATA22","chr17:3352294","c.479A>G(E6)","p.160,I>T","rs1488689",0.27,0.41,0.4,0.42,0.44,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"SPATA22",1,280,"错义",12220,"1.00=205/205",null,84690,"17p13.3","NM_001170695.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30835",95,95,1,{"$nulls":3},"A有","12309A","SPATA5","chr4:123949556","IVS11+6G>A","剪切位点","rs1472949",0.88,0.95,0.97,0.94,null,0.96,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SPATA5",1,210,"剪切位点",16202,"1.00=153/153",null,166378,"4q28.1","NM_145207.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1389",38,16,0.42,{"$nulls":3},"A有","12309A","SPG7","chr16:89613123","c.1507A>G(E11)","p.503,T>A","rs2292954",0.11,0.16,0.18,0.13,0.11,0.15,"杂合","无关","有rs号，MAF>=5%",null,"遗传性痉挛性截瘫7型","AD,AR",607259,5,1,3,1,"SPG7",0.98,64,"错义",12220,"0.44=24/54",null,6687,"16q24.3","NM_003119.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4747",224,102,0.46,{"$nulls":3},"A有","12309A","SPICE1","chr3:113222036","c.138G>A(E3)","p.46,P>P","rs11537650",0.24,0.2,0.22,0.19,0.17,0.21,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SPICE1",1,230,"同义",13203,"0.48=192/403",null,152185,"3q13.2","NM_144718.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31055",133,68,0.51,{"$nulls":3},"A有","12309A","SPRR3","chr1:152975829","c.333A>G(E2)","p.111,E>E","rs1970328",0.52,0.68,0.67,0.68,0.66,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"SPRR3",1,210,"同义",13203,"0.48=108/223",null,6707,"1q21-q22","NM_001097589.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10975",103,103,1,{"$nulls":3},"A有","12309A","SPTA1","chr1:158597507","c.5572G>C(E40)","p.1858,L>V","rs3737515",0.23,0.22,0.18,0.26,0.21,0.19,"纯合","无关","有rs号，MAF>=5%",8486776,"椭圆形红细胞增多症2型","AD",130600,5,1,15,3,"SPTA1",1,170,"错义",12210,"1.00=185/185",null,6708,"1q21","NM_003126.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10968",57,57,1,{"$nulls":3},"A有","12309A","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",1,170,"剪切位点",16202,"1.00=88/88",null,6708,"1q21","NM_003126.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26995",27,27,1,{"$nulls":3},"A有","12309A","SRA1","chr5:139931777-139931779","IVS2-8至IVS2-10:缺失GGT插入A","非编码区","rs60236323",{"$nulls":4},0.11,null,"纯合","无关","内含子突变",{"$nulls":4},5,null,2,0,"SRA1",0.74,49,"非编码区",2500,"1.00=27/27",null,10011,"5q31.3","NM_001035235.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2132",72,72,1,{"$nulls":3},"A有","12309A","SRP14","chr15:40328575","c.370G>C(E5)","p.124,P>A","rs7535",0.88,0.8,0.8,0.79,0.75,0.76,"纯合","无关","有rs号，MAF>=5%",16251468,{"$nulls":3},5,null,2,0,"SRP14",1,160,"错义",12220,"0.99=114/115",null,6727,"15q22","NM_003134.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16401",23,9,0.39,{"$nulls":3},"A有","12309A","SRRM4","chr12:119563288-119563289","IVS7+4至IVS7+5:插入C","非编码区","rs556224583",0.47,0.55,0.6,0.49,0.054,0.56,"杂合","无关","内含子突变",{"$nulls":4},5,null,2,0,"SRRM4",0.94,75,"非编码区",2500,"0.36=9/25",null,84530,"12q24.23","NM_194286.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14554",16,10,0.62,{"$nulls":3},"A有","12309A","SSH1","chr12:109182049","c.2865T>C(E15)","p.955,T>T","rs3741778",0.51,0.68,0.73,0.63,0.58,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"SSH1",0.98,73,"同义",13203,"0.60=12/20",null,54434,"12q24.11","NM_018984.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26750",54,29,0.54,{"$nulls":3},"A有","12309A","ST3GAL4","chr11:126278075","c.423C>T(E7)","p.141,Y>Y","rs2230279",0.34,0.52,0.53,0.51,0.49,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ST3GAL4",1,94,"同义",13203,"0.58=41/71",null,6484,"11q24.2","NM_001254757.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3715",78,39,0.5,{"$nulls":3},"A有","12309A","STAB2","chr12:104069795","c.2642G>A(E24)","p.881,R>H","rs7973658",0.043,0.048,0.052,0.044,0.075,0.052,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,10,0,"STAB2",1,180,"错义",12120,"0.52=54/104",null,55576,"12q23.3","NM_017564.9","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7404",89,44,0.49,{"$nulls":3},"A有","12309A","STARD9","chr15:42983742","c.9966C>A(E23)","p.3322,P>P","rs3742994",0.0026,0.014,0.0048,0.024,0.024,0.012,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"STARD9",1,110,"同义",13103,"0.49=75/154",null,57519,"15q15.2","NM_020759.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28361",93,93,1,{"$nulls":3},"A有","12309A","STIM1","chr11:4103524","c.1080A>G(E8)","p.360,Q>Q","rs2304891",0.39,0.44,0.42,0.46,0.45,0.45,"纯合","无关","有rs号，MAF>=5%",null,"Stormorken综合征","AD",185070,5,1,1,3,"STIM1",1,95,"同义",13203,"0.99=169/170",null,6786,"11p15.5","NM_003156.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18113",235,108,0.46,{"$nulls":3},"A有","12309A","STK24","chr13:99105395","m.1684G>A(E11)","非编码区","rs8481",0.21,0.14,0.18,0.1,0.12,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"STK24",0.97,160,"非编码区",14200,"0.45=174/385",null,8428,"13q31.2-q32.3","NM_001032296.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11974",141,70,0.5,{"$nulls":3},"A有","12309A","STON1-GTF2A1L","chr2:48807976","c.204T>C(E2)","p.68,D>D","rs3828340",0.34,0.4,0.38,0.43,0.43,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"STON1-GTF2A1L",0.99,200,"同义",13203,"0.47=111/234",null,286749,"2p16.3","NM_001198593.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26708",22,12,0.55,{"$nulls":3},"A有","12309A","STRA6","chr15:74476340","IVS13-10G>C","剪切位点","rs2277608",0.21,0.4,0.4,0.4,0.25,0.35,"杂合","无关","有rs号，MAF>=5%",null,"综合征型小眼畸形9型","AR",601186,5,3,2,1,"STRA6",0.89,49,"剪切位点",16201,"0.45=14/31",null,64220,"15q24.1","NM_001142617.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29002",143,70,0.49,{"$nulls":3},"A有","12309A","STXBP5","chr6:147680359","c.2445A>G(E23)","p.815,L>L","rs9390459",0.5,0.28,0.27,0.29,0.28,0.28,"杂合","无关","有rs号，MAF>=5%",20231535,{"$nulls":3},5,null,2,0,"STXBP5",1,310,"同义",13203,"0.51=116/228",null,134957,"6q24.3","NM_001127715.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1607",150,75,0.5,{"$nulls":3},"A有","12309A","SULT6B1","chr2:37402270","IVS5+5C>G","剪切位点","rs11569755",0.22,0.16,0.14,0.17,null,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"SULT6B1",1,260,"剪切位点",16201,"0.50=124/246",null,391365,"2p22.2","NM_001032377.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8004",45,45,1,{"$nulls":3},"A有","12309A","SUOX","chr12:56398454","c.1281G>C(E6)","p.427,S>S","rs773115",null,0.91,0.9,0.93,0.89,0.93,"纯合","未知","预测范围之外的同义突变",null,"硫半胱氨酸尿症","AR",272300,4,1,1,1,"SUOX",1,100,"同义",13303,"1.00=71/71",null,6821,"12q13.2","NM_000456.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17114",54,54,1,{"$nulls":3},"A有","12309A","SVIL","chr10:29784114","IVS16-4T>C","剪切位点","rs6481601",0.78,0.72,0.69,0.75,0.79,0.8,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"SVIL",1,120,"剪切位点",16202,"1.00=79/79",null,6840,"10p11.2","NM_003174.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2796",87,87,1,{"$nulls":3},"A有","12309A","SYNE1","chr6:152464839","c.24894A>G(E138)","p.8298,R>R","rs2256135",0.69,0.71,0.71,0.7,0.71,0.7,"纯合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良4型","AD",612998,5,1,18,2,"SYNE1",1,190,"同义",13203,"1.00=146/146",null,23345,"6q25","NM_033071.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27878",112,60,0.54,{"$nulls":3},"A有","12309A","SYNE2","chr14:64494278","c.6481C>T(E43)","p.2161,L>L","rs10151127",0.75,0.87,0.87,0.87,0.84,0.84,"杂合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良5型","AD",612999,5,1,21,1,"SYNE2",1,210,"同义",13203,"0.53=94/176",null,23224,"14q23.2","NM_015180.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27868",147,76,0.52,{"$nulls":3},"A有","12309A","SYNE2","chr14:64496749","c.6851C>T(E44)","p.2284,A>V","rs4027402",0.67,0.81,0.79,0.83,0.81,0.78,"杂合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss型肌营养不良5型","AD",612999,5,1,21,1,"SYNE2",1,210,"错义",12220,"0.54=120/224",null,23224,"14q23.2","NM_015180.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28855",196,47,0.24,{"$nulls":3},"A有","12309A","SYT15","chr10:46960084","m.3305G>A(E8)","非编码区","rs9422009",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"SYT15",0.99,71,"非编码区",14300,"0.24=82/344",null,83849,"10q11.1","NM_031912.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30117",68,31,0.46,{"$nulls":3},"A有","12309A","T","chr6:166579270","c.530C>T(E4)","p.177,G>D","rs2305089",0.39,0.33,0.35,0.32,0.31,0.33,"杂合","无关","有rs号，MAF>=5%","23064415;24990759","骶骨发育不全伴脊柱畸形","AR",615709,5,3,3,2,"T",1,58,"错义",12210,"0.48=48/99",null,6862,"6q27","NM_001270484.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1273",9,4,0.44,{"$nulls":3},"A有","12309A","TACR2","chr10:71168727","c.692C>T(E3)","p.231,G>E","rs77038916",0.13,0.38,0.39,0.37,0.33,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TACR2",1,51,"错义",12210,"0.47=7/15",null,6865,"10q22.1","NM_001057.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14196",8,8,1,{"$nulls":3},"A有","12309A","TAF6","chr7:99704827","m.2299A>G(E15)","非编码区","rs1050542",0.61,0.87,0.84,0.9,null,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TAF6",1,61,"非编码区",14200,"1.00=14/14",null,6878,"7q22.1","NM_001190415.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28105",33,33,1,{"$nulls":3},"A有","12309A","TAPBPL","chr12:6562823","c.506C>T(E3)","p.169,A>V","rs2041387",0.26,0.31,0.33,0.3,0.27,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"TAPBPL",1,50,"错义",12210,"1.00=58/58",null,55080,"12p13.31","NM_018009.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26539",125,69,0.55,{"$nulls":3},"A有","12309A","TAS1R2","chr1:19186129","c.26G>C(E1)","p.9,S>C","rs9701796",0.8,0.73,0.82,0.64,0.72,0.75,"杂合","无关","有rs号，MAF>=5%","16782140;19092995",{"$nulls":3},5,null,6,0,"TAS1R2",1,61,"错义",12220,"0.53=129/243",null,80834,"1p36.13","NM_152232.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2203",50,50,1,{"$nulls":3},"A有","12309A","TAS2R4","chr7:141478308","c.20T>C(E1)","p.7,F>S","rs2233998",0.43,0.68,0.67,0.68,0.68,0.68,"纯合","无关","有rs号，MAF>=5%","19092995;23133589;24705770",{"$nulls":3},5,null,3,0,"TAS2R4",1,120,"错义",12220,"1.00=74/74",null,50832,"7q31.3-q32","NM_016944.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v589",74,74,1,{"$nulls":3},"A有","12309A","TBC1D17","chr19:50383591","c.152A>G(E3)","p.51,D>G","rs8109661",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TBC1D17",0.96,43,"错义",12230,"0.99=128/129",null,79735,"19q13.33","NM_001168222.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28476",37,33,0.89,{"$nulls":3},"A有","12309A","TBC1D28","chr17:18542519","c.167T>G(E6)","p.56,E>A","rs74452761",{"$nulls":4},0.58,0.59,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"TBC1D28",1,220,"错义",12310,"0.81=48/59",null,254272,"17p11.2","NM_001039397.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6609",4,4,1,{"$nulls":3},"A有","12309A","TBR1","chr2:162280748","m.2361G>A(E6)","非编码区","rs890076",0.76,0.85,0.86,0.83,null,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TBR1",0.76,78,"非编码区",14200,"1.00=6/6",null,10716,"2q24","NM_006593.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3330",64,29,0.45,{"$nulls":3},"A有","12309A","TCF20","chr22:42609148","c.2164T>C(E1)","p.722,S>G","rs5758651",0.2,0.33,0.35,0.3,0.25,0.35,"杂合","无关","有rs号，MAF>=5%",20403199,{"$nulls":3},5,null,2,0,"TCF20",1,78,"错义",12220,"0.47=44/94",null,6942,"22q13.3|22q13.3","NM_005650.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12567",18,10,0.56,{"$nulls":3},"A有","12309A","TCHH","chr1:152081921","c.3772G>C(E2)","p.1258,L>V","rs2496253",0.57,0.58,0.58,0.58,0.58,0.58,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TCHH",0.9,48,"错义",12220,"0.63=17/27",null,7062,"1q21.3","NM_007113.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11184",22,5,0.23,{"$nulls":3},"A有","12309A","TCTE1","chr6:44250165","c.978A>G(E4)","p.326,G>G","rs516582",0.64,0.58,0.6,0.56,0.61,0.59,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TCTE1",1,53,"同义",13203,"0.22=7/32",null,202500,"6p21.1","NM_182539.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11680",242,112,0.46,{"$nulls":3},"A有","12309A","TDRD7","chr9:100194406","c.449T>C(E4)","p.150,V>A","rs2045732",0.54,0.58,0.58,0.57,0.54,0.56,"杂合","无关","有rs号，MAF>=5%",24435515,"常染色体隐性遗传先天性白内障4型",null,613887,5,2,2,1,"TDRD7",1,220,"错义",12220,"0.50=222/448",null,23424,"9q22.33","NM_014290.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v311",195,195,1,{"$nulls":3},"A有","12309A","TEK","chr9:27183463","c.1037A>C(E8)","p.346,Q>P","rs682632",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"多重皮肤和粘膜静脉畸形","AD",600195,5,1,4,1,"TEK",1,200,"错义",12230,"1.00=348/349",null,7010,"9p21","NM_000459.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26694",5,2,0.4,{"$nulls":3},"A有","12309A","TERT","chr5:1294086","c.915C>T(E2)","p.305,A>A","rs2736098",0.27,0.37,0.34,0.4,0.33,0.5,"杂合","无关","有rs号，MAF>=5%","17267408;18978790;19151717;19773453;19774073;20802237;21081471;21160077;22136229;22228261;23085811;23159463;23246478;23535824;23707794;23937305;24861918;25007268;25027329;25086665","常染色体显性先天性角化不全症2型；常染色体隐性性先天性角化不全症4型","AD,AR",613989,5,1,2,4,"TERT",0.8,30,"同义",13203,"0.40=2/5",null,7015,"5p15.33","NM_001193376.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27303",29,29,1,{"$nulls":3},"A有","12309A","TEX29","chr13:111973098","m.84T>C(E1)","非编码区","rs12855715",0.44,0.82,0.85,0.78,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TEX29",1,120,"非编码区",14200,"1.00=35/35",null,121793,"13q34","NM_152324.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30006",84,33,0.39,{"$nulls":3},"A有","12309A","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",274700,5,3,9,2,"TG",1,120,"同义",13203,"0.41=48/118",null,7038,"8q24","NM_003235.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7238",71,27,0.38,{"$nulls":3},"A有","12309A","TGFBR2","chr3:30713842","c.1242C>T(E5)","p.414,N>N","rs2228048",0.1,0.27,0.3,0.23,0.25,0.3,"杂合","无关","有rs号，MAF>=5%","17319955;18095113;19091845;19299629;21917900","Loeys-Dietz综合征2型","AD",610168,5,1,2,3,"TGFBR2",1,130,"同义",13203,"0.35=40/114",null,7048,"3p22","NM_001024847.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10609",21,13,0.62,{"$nulls":3},"A有","12309A","THBS4","chr5:79354147","IVS4+10C>T","非编码区","rs368936",0.57,0.51,0.5,0.53,null,0.57,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"THBS4",0.97,150,"非编码区",16203,"0.68=21/31",null,7060,"5q13","NM_003248.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9783",36,36,1,{"$nulls":3},"A有","12309A","THEM4","chr1:151847180","m.1334A>G(E6)","非编码区","rs10749666",0.92,0.95,0.93,0.98,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"THEM4",0.86,250,"非编码区",14200,"1.00=44/44",null,117145,"1q21","NM_053055.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24801",78,78,1,{"$nulls":3},"A有","12309A","TIAM1","chr21:32638549","c.740C>A(E5)","p.247,G>V","rs2070417",0.21,0.4,0.39,0.42,0.42,0.43,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TIAM1",1,130,"错义",12220,"1.00=150/150",null,7074,"21q22.11","NM_003253.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26768",38,38,1,{"$nulls":3},"A有","12309A","TIMELESS","chr12:56822378","c.1363T>A(E12)","p.455,I>L","rs774027",0.51,0.74,0.76,0.72,0.73,0.74,"纯合","无关","有rs号，MAF>=5%",25201053,{"$nulls":3},5,null,4,0,"TIMELESS",1,120,"错义",12220,"1.00=50/50",null,8914,"12q13.3","NM_003920.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31141",180,178,0.99,{"$nulls":3},"A有","12309A","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","进行性家族性肝内胆汁淤积4型","AR",615878,5,1,2,2,"TJP2",1,170,"错义",12220,"0.99=305/309",null,9414,"9q13-q21","NM_001170414.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3488",9,9,1,{"$nulls":3},"A有","12309A","TLE4","chr9:82187750","c.45A>G(E1)","p.15,P>P","rs1934610",0.99,1,1,0.99,0.91,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TLE4",1,190,"剪切位点",13202,"1.00=19/19",null,7091,"9q21.31","NM_007005.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12816",83,83,1,{"$nulls":3},"A有","12309A","TLR6","chr4:38830012","c.1083G>C(E2)","p.361,T>T","rs3821985",0.44,0.37,0.4,0.34,0.32,0.38,"纯合","无关","有rs号，MAF>=5%","18396467;19543401;20200442",{"$nulls":3},5,null,5,0,"TLR6",1,180,"同义",13203,"1.00=114/114",null,10333,"4p14","NM_006068.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30908",107,64,0.6,{"$nulls":3},"A有","12309A","TM7SF3","chr12:27143508","c.743G>A(E6)","p.248,P>L","rs10771314",0.049,0.055,0.057,0.053,0.08,0.067,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,2,0,"TM7SF3",1,230,"错义",12110,"0.60=102/169",null,51768,"12q11-q12","NM_016551.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22970",28,15,0.54,{"$nulls":3},"A有","12309A","TMC3","chr15:81625385","c.2678C>T(E22)","p.893,C>Y","rs11636318",0.47,0.4,0.4,0.4,0.41,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMC3",0.99,120,"错义",12220,"0.54=27/50",null,342125,"15q25.1","NM_001080532.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8509",34,15,0.44,{"$nulls":3},"A有","12309A","TMCO3","chr13:114175038","c.1333G>A(E8)","p.445,A>T","rs7319493",0.19,0.11,0.09,0.12,0.09,0.096,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"TMCO3",1,160,"错义",12220,"0.35=20/57",null,55002,"13q34","NM_017905.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7646",2,2,1,{"$nulls":3},"A有","12309A","TMEM119","chr12:108984947","m.1376C>G(E2)","非编码区","rs78430140",0.25,0.28,0.3,0.26,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TMEM119",1,19,"非编码区",14200,"1.00=4/4",null,338773,"12q23.3","NM_181724.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5152",105,51,0.49,{"$nulls":3},"A有","12309A","TMEM132C","chr12:129153986","c.1330G>A(E5)","p.444,V>I","rs4272850",0.34,0.25,0.23,0.28,0.25,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"TMEM132C",0.97,48,"错义",12220,"0.49=81/164",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"]
["12309A(99)v30727",230,228,0.99,{"$nulls":3},"A有","12309A","TMEM17","chr2:62729674","c.216T>C(E3)","p.72,L>L","rs4672527",0.81,0.68,0.73,0.63,0.67,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TMEM17",1,250,"同义",13203,"0.99=398/400",null,200728,"2p15","NM_198276.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21567",56,22,0.39,{"$nulls":3},"A有","12309A","TMEM183A","chr1:202977809","c.238G>A(E3)","p.80,A>T","rs6678040",0.13,0.15,0.13,0.17,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM183A",1,210,"错义",12220,"0.43=37/86",null,92703,"1q32.1","NM_138391.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21",46,46,1,{"$nulls":3},"A有","12309A","TMEM216","chr11:61165731-61165732","IVS4-1至c.431(E5):插入A","插入移码","rs11382548",0.86,0.97,0.97,0.98,0.72,0.96,"纯合","未知","有rs号，MAF>=5%的移码突变",null,"Joubert综合征2型","AR",608091,4,1,3,2,"TMEM216",0.7,120,"插入移码",2120,"1.00=48/48",null,51259,"11q13.1","NM_001173991.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2545",3,3,1,{"$nulls":3},"A有","12309A","TMEM43","chr3:14183410","m.1572T>C(E12)","非编码区","rs1043943",0.69,0.66,0.69,0.63,null,null,"纯合","无关","有rs号，MAF>=5%",null,"Emery-Dreifuss肌营养不良7型","AD",614302,5,1,3,2,"TMEM43",1,89,"非编码区",14200,"1.00=3/3",null,79188,"3p25.1","NM_024334.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27048",119,119,1,{"$nulls":3},"A有","12309A","TMEM59L","chr19:18726856","c.480T>C(E4)","p.160,L>L","rs709679",0.51,0.65,0.63,0.66,0.62,0.65,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TMEM59L",0.83,44,"同义",13203,"1.00=200/201",null,25789,"19p12","NM_012109.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6077",151,66,0.44,{"$nulls":3},"A有","12309A","TMEM67","chr8:94827660","c.2649A>C(E28)","p.883,T>T","rs16916221",0.069,0.23,0.22,0.25,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",null,"Joubert综合征6型","AR",610688,5,3,3,5,"TMEM67",1,290,"同义",13203,"0.42=110/262",null,91147,"8q22.1","NM_001142301.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25219",43,10,0.23,{"$nulls":3},"A有","12309A","TMPRSS13","chr11:117789313-117789327","c.262(E2)至c.248(E2):缺失GGGCT<5>TGCCT","缺失非移码","rs201746372",{"$nulls":4},0.016,null,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"TMPRSS13",1,55,"缺失非移码",2232,"0.21=10/47",null,84000,"11q23","NM_001077263.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17274",93,93,1,{"$nulls":3},"A有","12309A","TMPRSS4","chr11:117965530","IVS1-1A>G","剪切位点","rs2276122",0.31,0.35,0.31,0.39,0.39,0.4,"纯合","无关","突变在经典剪切位点上",{"$nulls":4},5,null,6,0,"TMPRSS4",1,81,"剪切位点",16204,"1.00=158/158",null,56649,"11q23.3","NM_001083947.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16119",100,100,1,{"$nulls":3},"A有","12309A","TMX4","chr20:7963041","c.907C>T(E8)","p.303,G>R","rs2076015",0.35,0.57,0.62,0.53,0.58,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TMX4",0.95,200,"错义",12220,"1.00=151/151",null,56255,"20p12","NM_021156.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29691",32,11,0.34,{"$nulls":3},"A有","12309A","TNFSF12-TNFSF13","chr17:7464455","m.1394C>T(E11)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"TNFSF12-TNFSF13",0.89,84,"非编码区",14400,"0.29=11/38",null,407977,"17p13.1","NM_172089.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23711",16,16,1,{"$nulls":3},"A有","12309A","TNFSF14","chr19:6665020","c.640T>C(E5)","p.214,K>E","rs344560",0.96,0.95,0.92,0.99,0.91,0.92,"纯合","无关","有rs号，MAF>=5%",20592286,{"$nulls":3},5,null,2,0,"TNFSF14",1,27,"错义",12220,"1.00=32/32",null,8740,"19p13.3","NM_003807.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7943",49,20,0.41,{"$nulls":3},"A有","12309A","TNR","chr1:175375469","c.382C>A(E3)","p.128,A>S","rs2239819",0.29,0.52,0.48,0.56,0.49,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"TNR",1,120,"错义",12220,"0.42=34/81",null,7143,"1q24","NM_003285.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v196",38,24,0.63,{"$nulls":3},"A有","12309A","TOB2","chr22:41833116","c.234C>T(E2)","p.78,A>A","rs202641",0.71,0.93,0.92,0.93,0.89,0.94,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TOB2",1,39,"同义",13203,"0.58=39/67",null,10766,"22q13.2","NM_016272.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25430",130,58,0.45,{"$nulls":3},"A有","12309A","TOX","chr8:59851853","IVS3+8A>G","非编码区","rs79446072",0.1,0.23,0.24,0.22,null,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TOX",1,180,"非编码区",16203,"0.47=98/207",null,9760,"8q12.1","NM_014729.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26931",48,48,1,{"$nulls":3},"A有","12309A","TP53","chr17:7579801","m.314G>C(E2)","非编码区","rs1642785",0.58,0.57,0.6,0.53,0.61,0.59,"纯合","无关","有rs号，MAF>=5%",null,"肝癌","AD",114550,5,1,3,11,"TP53",1,120,"非编码区",14200,"0.90=82/91",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"]
["12309A(99)v5346",7,7,1,{"$nulls":3},"A有","12309A","TPCN2","chr11:68834968","IVS7-3T>C","剪切位点","rs6591368",0.9,0.84,0.85,0.84,0.84,0.86,"纯合","无关","有rs号，MAF>=5%",null,"皮肤/头发/眼睛色素沉着10型",null,612267,5,1,10,1,"TPCN2",0.98,53,"剪切位点",16202,"1.00=11/11",null,219931,"11q13.3","NM_139075.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20213",295,147,0.5,{"$nulls":3},"A有","12309A","TPP2","chr13:103328660","c.3555A>G(E28)","p.1185,A>A","rs2230856",0.12,0.14,0.16,0.12,0.14,0.16,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"TPP2",0.99,310,"同义",13203,"0.48=270/567",null,7174,"13q32-q33","NM_003291.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12395",9,9,1,{"$nulls":3},"A有","12309A","TPSG1","chr16:1271890","c.864G>T(E6)","p.288,F>L","rs1004041",0.61,0.88,0.88,0.87,0.77,0.87,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TPSG1",0.78,7.9,"错义",12220,"0.94=16/17",null,25823,"16p13.3","NM_012467.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27121",4,4,1,{"$nulls":3},"A有","12309A","TRAK1","chr3:42244321","c.1599G>A(E12)","p.533,A>A","rs9311309",0.74,0.99,0.99,0.99,null,0.99,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"TRAK1",0.98,89,"同义",13203,"1.00=5/5",null,22906,"3p22.1","NM_001265610.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25728",59,30,0.51,{"$nulls":3},"A有","12309A","TREML2","chr6:41165899","c.324G>A(E2)","p.108,N>N","rs41273768",0.055,0.065,0.043,0.087,0.071,0.071,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TREML2",1,90,"同义",13203,"0.47=42/90",null,79865,"6p21.1","NM_024807.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16109",16,16,1,{"$nulls":3},"A有","12309A","TRIB3","chr20:376857","c.600G>A(E4)","p.200,L>L","rs11537605",0.05,0.13,0.13,0.12,0.12,0.13,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"TRIB3",1,11,"同义",13103,"1.00=23/23",null,57761,"20p13-p12.2","NM_021158.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27533",127,125,0.98,{"$nulls":3},"A有","12309A","TRIM36","chr5:114480364","c.702C>T(E4)","p.234,L>L","rs7716270",0.34,0.39,0.41,0.37,0.37,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"TRIM36",1,210,"同义",13203,"0.99=215/217",null,55521,"5q22.3","NM_018700.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22393",56,12,0.21,{"$nulls":3},"A有","12309A","TRIM49","chr11:89531619","c.1038A>G(E8)","p.346,H>H","rs11824402",{"$nulls":4},0.3,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"TRIM49",1,180,"同义",13303,"0.29=28/96",null,57093,"11p11.12-q12","NM_020358.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29210",18,18,1,{"$nulls":3},"A有","12309A","TRIM69","chr15:45028710","m.151T>C(E1)","非编码区","rs2470908",0.85,0.84,0.84,0.84,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TRIM69",1,180,"非编码区",14200,"1.00=21/21",null,140691,"15q21.1","NM_080745.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v24575",101,101,1,{"$nulls":3},"A有","12309A","TRIP12","chr2:230668858","c.2511T>C(E18)","p.837,T>T","rs13018957",0.35,0.32,0.32,0.33,0.3,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TRIP12",1,240,"同义",13203,"1.00=162/162",null,9320,"2q36.3","NM_004238.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9527",33,33,1,{"$nulls":3},"A有","12309A","TRPA1","chr8:72987638","c.7G>A(E1)","p.3,R>C","rs13268757",0.1,0.072,0.071,0.073,0.054,0.057,"纯合","无关","有rs号，MAF>=5%",null,"家族性阵发性疼痛综合征-1","AD",615040,5,1,10,1,"TRPA1",1,300,"错义",12220,"1.00=52/52",null,8989,"8q13","NM_007332.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5982",20,9,0.45,{"$nulls":3},"A有","12309A","TRPM5","chr11:2438963","c.1003C>A(E7)","p.335,V>L","rs34350821",0.039,0,0,0,0.0012,0.00024,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,8,0,"TRPM5",0.96,20,"错义",12110,"0.43=10/23",null,29850,"11p15.5","NM_014555.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26506",20,20,1,{"$nulls":3},"A有","12309A","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",1,49,"同义",13203,"1.00=28/28",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"]
["12309A(99)v23650",79,79,1,{"$nulls":3},"A有","12309A","TSHB","chr1:115576023","c.40A>G(E2)","p.14,T>A","rs10776792",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"非甲状腺肿大先天性甲状腺机能低下症4型/甲状腺发育不全","AR",275100,5,1,1,1,"TSHB",1,170,"错义",12220,"1.00=119/119",null,7252,"1p13","NM_000549.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12253",10,7,0.7,{"$nulls":3},"A有","12309A","TSPAN11","chr12:31145010-31145011","m.1035(E8)至m.1036(E8):插入CTA","非编码区","rs10701557",null,0.99,0.99,0.99,0.1,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"TSPAN11",1,54,"非编码区",2430,"0.64=7/11",null,441631,"12p11.21","NM_001080509.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30486",124,53,0.43,{"$nulls":3},"A有","12309A","TTC21A","chr3:39161464","c.730G>A(E7)","p.244,E>K","rs1274971",0.46,0.27,0.25,0.3,0.28,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TTC21A",1,120,"错义",12220,"0.39=84/216",null,199223,"3p22.2","NM_001105513.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v30483",144,64,0.44,{"$nulls":3},"A有","12309A","TTC21A","chr3:39180099","c.3726T>C(E27)","p.1242,I>I","rs784498",0.71,0.75,0.78,0.72,0.72,0.77,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"TTC21A",1,120,"同义",13203,"0.44=96/217",null,199223,"3p22.2","NM_001105513.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18673",12,6,0.5,{"$nulls":3},"A有","12309A","TTC39B","chr9:15307090","c.232C>T(E1)","p.78,A>T","rs202092498",0.0046,0.019,0.0095,0.029,0.012,0.017,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,3,0,"TTC39B",1,250,"错义",12120,"0.54=7/13",null,158219,"9p22.3","NM_001168339.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11876",100,100,1,{"$nulls":3},"A有","12309A","TTLL5","chr14:76232398","IVS19-7T>C","剪切位点","rs2359870",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",null,"视锥-视杆细胞营养不良19型","AR",615860,5,1,2,1,"TTLL5",1,240,"剪切位点",16201,"1.00=155/155",null,23093,"14q24.3","NM_015072.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15157",106,49,0.46,{"$nulls":3},"A有","12309A","TTN","chr2:179404786","IVS301+9A>T","非编码区","rs2288325",0.23,0.4,0.44,0.36,0.37,0.44,"杂合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,66,6,"TTN",0.99,170,"非编码区",16203,"0.46=67/147",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15183",109,54,0.5,{"$nulls":3},"A有","12309A","TTN","chr2:179421694","c.83264A>G(E280)","p.27755,I>T","rs9808377",0.51,0.69,0.71,0.66,0.63,0.7,"杂合","无关","有rs号，MAF>=5%",null,"先天性肌病,早发,伴心肌病","AR",611705,5,3,66,6,"TTN",0.99,170,"错义",12220,"0.51=75/148",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15136",120,47,0.39,{"$nulls":3},"A有","12309A","TTN","chr2:179430997","c.74939G>A(E276)","p.24980,T>M","rs3731746",0.34,0.6,0.62,0.58,0.56,0.61,"杂合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,66,6,"TTN",0.99,170,"错义",12210,"0.37=73/199",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15141",54,27,0.5,{"$nulls":3},"A有","12309A","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,"肢带型肌营养不良症2J型","AR",608807,5,3,66,6,"TTN",0.99,170,"同义",13203,"0.50=34/68",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15178",102,52,0.51,{"$nulls":3},"A有","12309A","TTN","chr2:179480360","IVS208+8G>A","非编码区","rs2288565",0.014,0.082,0.067,0.097,0.079,0.065,"杂合","未知","内含子突变可能影响调控",null,"家族性肥厚型心肌病9型",null,613765,4,2,66,6,"TTN",0.99,170,"非编码区",16103,"0.48=77/161",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15163",227,95,0.42,{"$nulls":3},"A有","12309A","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,"肢带型肌营养不良症2J型","AR",608807,5,3,66,6,"TTN",0.99,170,"错义",12220,"0.42=167/401",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15171",111,51,0.46,{"$nulls":3},"A有","12309A","TTN","chr2:179579822","c.25140T>A(E88)","p.8380,L>L","rs2562836",0.44,0.66,0.7,0.63,0.65,0.67,"杂合","无关","有rs号，MAF>=5%",null,"迟发性胫骨肌营养不良症","AD",600334,5,1,66,6,"TTN",0.99,170,"同义",13203,"0.46=83/180",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15143",94,49,0.52,{"$nulls":3},"A有","12309A","TTN","chr2:179585393","IVS77-3A>G","剪切位点","rs2562830",0.46,0.67,0.7,0.63,0.57,0.67,"杂合","无关","有rs号，MAF>=5%",null,"扩张型心肌病1G型",null,604145,5,2,66,6,"TTN",0.99,170,"剪切位点",16202,"0.51=70/136",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15164",65,34,0.52,{"$nulls":3},"A有","12309A","TTN","chr2:179604366","c.12643T>G(E46)","p.4215,T>P","rs2562829",0.076,0.22,0.23,0.22,0.21,0.21,"杂合","无关","有rs号，MAF>=5%",20031603,"迟发性胫骨肌营养不良症","AD",600334,5,1,66,6,"TTN",0.99,170,"错义",12220,"0.48=45/94",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15186",74,39,0.53,{"$nulls":3},"A有","12309A","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,"肢带型肌营养不良症2J型","AR",608807,5,3,66,6,"TTN",0.99,170,"错义",12220,"0.55=58/105",null,7273,"2q31","NM_133379.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15194",114,62,0.54,{"$nulls":3},"A有","12309A","TTN","chr2:179620951","c.11252C>T(E46)","p.3751,G>D","rs7585334",0.8,0.75,0.75,0.75,0.75,0.75,"杂合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病9型",null,613765,5,2,66,6,"TTN",0.99,170,"错义",12220,"0.56=93/167",null,7273,"2q31","NM_001267550.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15135",146,70,0.48,{"$nulls":3},"A有","12309A","TTN","chr2:179631214","c.9597T>C(E41)","p.3199,E>E","rs2291312",0.17,0.23,0.24,0.22,0.21,0.24,"杂合","无关","有rs号，MAF>=5%",null,"肢带型肌营养不良症2J型","AR",608807,5,3,66,6,"TTN",0.99,170,"同义",13203,"0.46=126/271",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15176",36,36,1,{"$nulls":3},"A有","12309A","TTN","chr2:179644035","c.3884G>A(E23)","p.1295,S>L","rs1552280",0.92,0.9,0.91,0.9,0.81,0.88,"纯合","无关","有rs号，MAF>=5%",null,"家族性肥厚型心肌病9型",null,613765,5,1,66,6,"TTN",0.99,170,"错义",12220,"1.00=62/62",null,7273,"2q31","NM_001256850.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10910",28,28,1,{"$nulls":3},"A有","12309A","TUBA1C","chr12:49667103","m.1543A>T(E4)","非编码区","rs9668136",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"TUBA1C",1,230,"非编码区",14200,"1.00=30/30",null,84790,"12q13.12","NM_032704.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11651",17,5,0.29,{"$nulls":3},"A有","12309A","TUBB8","chr10:93603","c.729C>T(E4)","p.243,P>P","rs6560827",0.67,0.48,0.5,0.46,0.29,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TUBB8",1,66,"同义",13203,"0.26=6/23",null,347688,"10p15.3","NM_177987.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13545",35,35,1,{"$nulls":3},"A有","12309A","TULP4","chr6:158924088","c.3393T>C(E13)","p.1131,D>D","rs914690",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"TULP4",1,89,"同义",13203,"1.00=65/65",null,56995,"6q25-q26","NM_020245.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22783",160,152,0.95,{"$nulls":3},"A有","12309A","TXNDC2","chr18:9887546","c.1070G>A(E2)","p.357,G>D","rs2240906",0.48,0.82,0.86,0.79,0.78,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"TXNDC2",1,200,"错义",12220,"0.95=250/262",null,84203,"-","NM_001098529.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9641",95,95,1,{"$nulls":3},"A有","12309A","UBE2Q2","chr15:76191852","m.1443T>C(E13)","非编码区","rs335688",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"UBE2Q2",1,250,"非编码区",14200,"1.00=157/157",null,92912,"15q24.2","NM_001145335.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22382",2,2,1,{"$nulls":3},"A有","12309A","UBL3","chr13:30341030","m.1861A>G(E5)","非编码区","rs4385989",0.93,0.98,0.99,0.97,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UBL3",1,320,"非编码区",14200,"1.00=2/2",null,5412,"13q12-q13","NM_007106.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18018",25,14,0.56,{"$nulls":3},"A有","12309A","UCP2","chr11:73689104","c.164G>A(E4)","p.55,A>V","rs660339",0.42,0.41,0.35,0.48,0.42,0.4,"杂合","无关","有rs号，MAF>=5%","17066476;17601350;17894153;18496642;18599530;18956255;18996102;19681913;19760975;19769793;19833146;20142250;21720911;21883184;23681449;24804925;24879436","肥胖（易感），BMIQ4",null,607447,5,2,1,1,"UCP2",1,88,"错义",12220,"0.58=18/31",null,7351,"11q13","NM_003355.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8371",8,8,1,{"$nulls":3},"A有","12309A","UGT1A1","chr2:234681416","m.1828T>C(E5)","非编码区","rs10929303",0.75,0.87,0.86,0.89,null,null,"纯合","无关","有rs号，MAF>=5%",null,"吉尔伯特综合征","AR",143500,5,1,2,5,"UGT1A1",1,150,"非编码区",14200,"1.00=9/9",null,54658,"2q37","NM_000463.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8659",455,451,0.99,{"$nulls":3},"A有","12309A","UGT2B10","chr4:69687987","IVS2-1C>A","剪切位点","rs2942857",0.85,0.92,0.92,0.91,null,0.91,"纯合","无关","突变在经典剪切位点上",{"$nulls":4},5,null,3,0,"UGT2B10",1,440,"剪切位点",16204,"0.99=1230/1238",null,7365,"4q13.2","NM_001075.4","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23281",164,163,0.99,{"$nulls":3},"A有","12309A","ULK2","chr17:19713740","c.1108C>T(E14)","p.370,V>M","rs150122",0.89,0.71,0.74,0.68,0.73,0.77,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ULK2",1,210,"错义",12220,"0.99=310/313",null,9706,"17p11.2","NM_001142610.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14424",3,3,1,{"$nulls":3},"A有","12309A","UMODL1","chr21:43531403","c.1855C>G(E11)","p.619,R>G","rs220127",0.72,0.88,0.91,0.84,0.67,0.91,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"UMODL1",1,78,"错义",12220,"1.00=3/3",null,89766,"21q22.3","NM_001199527.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20163",4,4,1,{"$nulls":3},"A有","12309A","UNC5B","chr10:73044580","c.408G>A(E3)","p.136,A>A","rs12770025",0.5,0.4,0.36,0.44,0.31,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"UNC5B",0.97,44,"同义",13203,"1.00=5/5",null,219699,"10q22.1","NM_001244889.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v8314",16,6,0.38,{"$nulls":3},"A有","12309A","UPK1A","chr19:36159481","c.210C>T(E2)","p.70,C>C","rs79704093",0.02,0.087,0.081,0.092,0.091,0.091,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"UPK1A",1,40,"同义",13103,"0.30=10/33",null,11045,"19q13.13","NM_007000.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17359",115,72,0.63,{"$nulls":3},"A有","12309A","USH2A","chr1:215848587","c.12666T>C(E63)","p.4222,T>T","rs2797234",0.3,0.3,0.34,0.27,0.28,0.32,"杂合","无关","有rs号，MAF>=5%",null,"尤塞氏综合症IIA型","AR",276901,5,3,8,2,"USH2A",1,200,"同义",13203,"0.61=143/233",null,7399,"1q41","NM_206933.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25132",40,40,1,{"$nulls":3},"A有","12309A","USP17L2","chr8:11995274","c.996G>A(E1)","p.332,D>D","rs71511006",0.72,0.95,0.95,0.94,0.86,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"USP17L2",0.51,15,"同义",13203,"1.00=72/72",null,377630,"8p23.1","NM_201402.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31665",11,4,0.36,{"$nulls":3},"A有","12309A","USP3","chr15:63883204","m.1839C>T(E14)","非编码区","rs117047171",0.008,0.029,0.029,0.029,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"USP3",1,290,"非编码区",14100,"0.31=4/13",null,9960,"15q22.3","NM_001256702.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v654",52,29,0.56,{"$nulls":3},"A有","12309A","USP42","chr7:6189717","c.1890G>A(E13)","p.630,T>T","rs61753118",0.048,0.036,0.048,0.024,0.022,0.03,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"USP42",0.91,120,"同义",13103,"0.57=45/79",null,84132,"7p22.1","NM_032172.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23969",128,61,0.48,{"$nulls":3},"A有","12309A","UTP20","chr12:101723197","c.3387C>T(E27)","p.1129,T>T","rs74363467",0.032,0.07,0.076,0.063,0.062,0.08,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,15,0,"UTP20",1,260,"同义",13103,"0.50=109/217",null,27340,"12q23","NM_014503.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28191",43,43,1,{"$nulls":3},"A有","12309A","VAMP1","chr12:6572048","m.2091A>G(E5)","非编码区","rs1045452",0.73,0.81,0.79,0.82,0.75,0.76,"纯合","无关","有rs号，MAF>=5%",null,"常染色体显性遗传性痉挛性共济失调1型","AD",108600,5,1,8,1,"VAMP1",1,120,"非编码区",14200,"1.00=68/68",null,6843,"12p","NM_014231.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26762",10,10,1,{"$nulls":3},"A有","12309A","VASN","chr16:4431202","c.324A>G(E2)","p.108,T>T","rs758044",0.69,0.82,0.79,0.86,0.69,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"VASN",0.69,3.1,"同义",13203,"1.00=13/13",null,114990,"16p13.3","NM_138440.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27961",94,46,0.49,{"$nulls":3},"A有","12309A","VEPH1","chr3:157146186","c.621C>T(E5)","p.207,M>I","rs144692384",0.0022,0.0072,0,0.015,0.008,0.013,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,2,0,"VEPH1",1,190,"错义",12120,"0.46=75/163",null,79674,"3q24-q25","NM_001167911.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5424",86,80,0.93,{"$nulls":3},"A有","12309A","VPS11","chr11:118939939-118939940","c.220(E2)至c.221(E2):插入C","插入移码","rs370939658",{"$nulls":4},0.14,0.98,"纯合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,6,0,"VPS11",1,120,"插入移码",2130,"0.91=86/94",null,55823,"11q23","NM_021729.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v5459",92,92,1,{"$nulls":3},"A有","12309A","VPS33B","chr15:91543761","c.1540C>T(E20)","p.514,G>S","rs11073964",0.77,1,1,1,0.93,1,"纯合","无关","有rs号，MAF>=5%",null,"关节弯曲、肾衰竭和胆汁淤积1型","AR",208085,5,1,1,1,"VPS33B",1,150,"错义",12220,"0.99=163/164",null,26276,"15q26.1","NM_018668.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15717",98,39,0.4,{"$nulls":3},"A有","12309A","VSIG10","chr12:118517275","c.801C>T(E4)","p.267,V>V","rs79975193",0.026,0.062,0.062,0.063,0.067,0.075,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"VSIG10",1,120,"同义",13103,"0.43=64/149",null,54621,"12q24.23","NM_019086.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3895",82,33,0.4,{"$nulls":3},"A有","12309A","VWA3B","chr2:98853173","c.2653G>A(E19)","p.885,V>M","rs11889349",0.66,0.78,0.78,0.79,0.75,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"VWA3B",1,190,"错义",12220,"0.40=47/118",null,200403,"2q11.2","NM_144992.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29120",61,28,0.46,{"$nulls":3},"A有","12309A","VWF","chr12:6174414","c.1182T>G(E11)","p.394,S>S","rs1800376",0.28,0.23,0.21,0.25,0.17,0.22,"杂合","无关","有rs号，MAF>=5%",null,"I型 von Willebrand病","AD",193400,5,1,11,3,"VWF",0.97,89,"同义",13203,"0.41=41/101",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"]
["12309A(99)v13299",70,69,0.99,{"$nulls":3},"A有","12309A","WARS","chr14:100813077","IVS7+6T>C","剪切位点","rs941923",0.7,0.79,0.79,0.8,null,0.79,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"WARS",1,140,"剪切位点",16202,"0.99=118/119",null,7453,"14q32.31","NM_004184.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1581",47,22,0.47,{"$nulls":3},"A有","12309A","WDR26","chr1:224577397","m.2272A>G(E14)","非编码区","rs16847945",0.099,0.16,0.15,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"WDR26",1,230,"非编码区",14200,"0.48=30/63",null,80232,"1q42.13","NM_001115113.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12745",160,160,1,{"$nulls":3},"A有","12309A","WDR43","chr2:29135468","c.498C>G(E4)","p.166,G>G","rs6715296",0.7,0.86,0.88,0.84,0.86,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"WDR43",1,230,"同义",13203,"1.00=265/265",null,23160,"2p23.2","NM_015131.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21527",155,155,1,{"$nulls":3},"A有","12309A","WDR60","chr7:158672476","c.675C>G(E5)","p.225,N>K","rs2709859",1,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%",null,"短肋骨胸廓发育不良8伴或不伴多趾","AR",615503,5,1,5,1,"WDR60",1,190,"错义",12220,"1.00=307/308",null,55112,"7q36.3","NM_018051.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26480",119,90,0.76,{"$nulls":3},"A有","12309A","WDR7","chr18:54354079-54354080","IVS6-7至IVS6-6:插入CT","非编码区",{"$nulls":5},0.15,null,"杂合","无关","内含子突变",{"$nulls":4},5,null,5,0,"WDR7",1,240,"非编码区",2500,"0.76=103/135",null,23335,"18q21.31","NM_015285.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28459",63,33,0.52,{"$nulls":3},"A有","12309A","WDR88","chr19:33635761","c.399C>T(E3)","p.133,D>D","rs3848596",0.51,0.55,0.54,0.55,0.59,0.56,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WDR88",1,140,"同义",13203,"0.53=45/85",null,126248,"19q13.11","NM_173479.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11790",94,94,1,{"$nulls":3},"A有","12309A","WDYHV1","chr8:124448689","IVS3-4T>C","剪切位点","rs9297669",0.91,0.99,1,0.99,null,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"WDYHV1",1,210,"剪切位点",16202,"1.00=152/152",null,55093,"8q24.13","NM_018024.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18036",2,2,1,{"$nulls":3},"A有","12309A","WFS1","chr4:6304087","c.2565A>G(E8)","p.855,S>S","rs1046316",null,0.93,0.87,0.98,0.81,0.94,"纯合","未知","预测范围之外的同义突变",null,"白内障41型","AD",116400,4,1,11,5,"WFS1",0.97,38,"同义",13303,"1.00=2/2",null,7466,"4p16.1","NM_001145853.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13058",6,4,0.67,{"$nulls":3},"A有","12309A","WIPF3","chr7:29923947","c.837C>A(E5)","p.279,P>P","rs548308628",1.4E-3,0.0096,0.0095,0.0097,0.018,0.0069,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"WIPF3",0.98,97,"同义",13103,"0.71=5/7",null,644150,"7p14.3","NM_001080529.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7699",35,35,1,{"$nulls":3},"A有","12309A","WNK1","chr12:994487","c.5297G>C(E19)","p.1766,C>S","rs7955371",0.99,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%",null,"遗传性感觉自主神经病IIA型","AR",201300,5,1,7,2,"WNK1",0.97,170,"错义",12220,"1.00=50/50",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"]
["12309A(99)v28733",42,42,1,{"$nulls":3},"A有","12309A","WT1","chr11:32417945","c.1056T>C(E6)","p.352,R>R","rs16754",0.33,0.73,0.7,0.76,0.69,0.69,"纯合","无关","有rs号，MAF>=5%","15687485;17267408;19914700;20038731;20368538;20644087;21189390;21372155;21659357;21760594;21798259;22015946;22506617;22568493;22895555;23070125;23117548;23550990;23956224","肾病综合征4型（伴弥漫性系膜硬化）","AR",256370,5,1,2,6,"WT1",0.58,96,"同义",13203,"1.00=72/72",null,7490,"11p13","NM_000378.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29678",133,131,0.98,{"$nulls":3},"A有","12309A","XCL2","chr1:168510122","m.446T>A(E3)","非编码区","rs470733",0.63,0.89,0.88,0.91,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"XCL2",1,250,"非编码区",14200,"0.99=205/208",null,6846,"1q24.2","NM_003175.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v16866",47,47,1,{"$nulls":3},"A有","12309A","XPC","chr3:14197987","c.1770A>T(E10)","p.590,A>A","rs2958057",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%",null,"着色性干皮病,互补群C","AR",278720,5,1,5,1,"XPC",1,110,"同义",13203,"1.00=72/72",null,7508,"3p25","NM_001145769.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21289",3,2,0.67,{"$nulls":3},"A有","12309A","YDJC","chr22:21984205","c.99A>G(E1)","p.33,A>A","rs710177",0.46,0.48,0.52,0.44,0.31,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"YDJC",0.93,6.9,"同义",13203,"0.60=3/5",null,150223,"22q11.21","NM_001017964.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20365",37,37,1,{"$nulls":3},"A有","12309A","YTHDF3","chr8:64098729-64098730","c.159(E4)至c.160(E4):插入G","插入移码","rs33994594",1,1,1,1,0.16,1,"纯合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,1,0,"YTHDF3",1,200,"插入移码",2120,"1.00=39/39",null,253943,"8q12.3","NM_152758.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13802",16,16,1,{"$nulls":3},"A有","12309A","ZBP1","chr20:56186884","c.770T>C(E6)","p.257,Q>R","rs2865394",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZBP1",1,65,"错义",12220,"1.00=24/24",null,81030,"20q13.31","NM_001160417.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13431",14,13,0.93,{"$nulls":3},"A有","12309A","ZC2HC1C","chr14:75544470","m.1232T>A(E3)","非编码区","rs10246",0.5,0.83,0.82,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZC2HC1C",1,130,"非编码区",14200,"0.94=16/17",null,79696,"14q24.3","NM_001042430.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6047",37,37,1,{"$nulls":3},"A有","12309A","ZCCHC14","chr16:87446368","c.1548C>T(E12)","p.516,P>P","rs2241615",0.19,0.41,0.39,0.44,0.41,0.42,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZCCHC14",0.96,75,"同义",13203,"1.00=54/54",null,23174,"16q24.2","NM_015144.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22643",122,122,1,{"$nulls":3},"A有","12309A","ZDHHC5","chr11:57463500","c.994T>C(E9)","p.332,L>L","rs1783978",0.66,0.9,0.89,0.92,0.91,0.9,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZDHHC5",1,110,"同义",13203,"1.00=213/213",null,25921,"11q12.1","NM_015457.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27829",79,79,1,{"$nulls":3},"A有","12309A","ZFP28","chr19:57066013","c.1859C>T(E8)","p.620,A>V","rs10409531",0.41,0.3,0.28,0.32,0.27,0.26,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZFP28",0.95,160,"错义",12220,"1.00=121/121",null,140612,"-","NM_020828.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2984",130,130,1,{"$nulls":3},"A有","12309A","ZFYVE16","chr5:79773028","IVS18-10T>G","剪切位点","rs166062",0.76,0.91,0.91,0.9,null,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZFYVE16",1,240,"剪切位点",16202,"1.00=216/216",null,9765,"5q14","NM_001105251.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19426",89,48,0.54,{"$nulls":3},"A有","12309A","ZIM3","chr19:57646570","c.1135T>C(E5)","p.379,I>V","rs4801433",0.42,0.37,0.31,0.43,0.31,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,9,0,"ZIM3",1,150,"错义",12220,"0.56=77/137",null,114026,"-","NM_052882.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v9270",124,123,0.99,{"$nulls":3},"A有","12309A","ZNF107","chr7:64169019","c.2337G>A(E5)","p.779,E>E","rs4717205",0.81,0.79,0.77,0.81,0.92,0.92,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF107",1,130,"同义",13203,"0.99=229/231",null,51427,"7q11.2","NM_001013746.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1030",24,15,0.62,{"$nulls":3},"A有","12309A","ZNF146","chr19:36728290","m.2397A>G(E3)","非编码区","rs4806293",0.15,0.18,0.17,0.19,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF146",1,140,"非编码区",14200,"0.61=23/38",null,7705,"19q13.1","NM_001099638.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20558",136,62,0.46,{"$nulls":3},"A有","12309A","ZNF175","chr19:52089982","c.398C>G(E5)","p.133,S>C","rs61736479",0.15,0.11,0.11,0.097,0.14,0.14,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF175",1,140,"错义",12210,"0.46=96/210",null,7728,"19q13.4","NM_007147.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27982",124,123,0.99,{"$nulls":3},"A有","12309A","ZNF202","chr11:123598941","c.732T>C(E7)","p.244,V>V","rs2282644",0.23,0.33,0.35,0.31,0.32,0.36,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF202",1,88,"同义",13203,"1.00=216/217",null,7753,"11q23.3","NM_003455.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3800",31,31,1,{"$nulls":3},"A有","12309A","ZNF214","chr11:7022717","c.197T>C(E3)","p.66,Y>C","rs1156526",0.59,0.7,0.71,0.69,0.66,0.75,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF214",1,190,"错义",12220,"1.00=38/38",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"]
["12309A(99)v16566",49,18,0.37,{"$nulls":3},"A有","12309A","ZNF239","chr10:44053013","c.515G>C(E4)","p.172,A>G","rs2230660",{"$nulls":4},0.53,0.56,"杂合","可能相关","蛋白结构预测结果为有害","16385451;18091754;24968322",{"$nulls":3},2,null,4,0,"ZNF239",1,150,"错义",12310,"0.32=23/73",null,8187,"10q11.22-q11.23","NM_001099282.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28028",155,90,0.58,{"$nulls":3},"A有","12309A","ZNF277","chr7:111981007","c.1090G>A(E11)","p.364,V>M","rs11539696",0.046,0.041,0.033,0.049,0.034,0.029,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,1,0,"ZNF277",1,270,"错义",12120,"0.55=146/265",null,11179,"7q31.1","NM_021994.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2372",146,63,0.43,{"$nulls":3},"A有","12309A","ZNF285","chr19:44890801","c.1606T>C(E4)","p.536,R>G","rs12610859",0.43,0.17,0.2,0.15,0.15,0.19,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF285",1,160,"错义",12220,"0.43=112/260",null,26974,"-","NM_152354.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7571",49,49,1,{"$nulls":3},"A有","12309A","ZNF326","chr1:90470915","m.460T>A(E4)","非编码区","rs11808927",0.64,0.89,0.9,0.88,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF326",1,280,"非编码区",14200,"1.00=63/63",null,284695,"1p22.2","NM_182975.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25080",43,43,1,{"$nulls":3},"A有","12309A","ZNF354C","chr5:178507090","c.1657G>A(E5)","p.553,E>K","rs1445845",0.78,0.89,0.88,0.91,0.82,0.88,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF354C",1,160,"错义",12220,"1.00=48/48",null,30832,"5q35","NM_014594.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11073",90,90,1,{"$nulls":3},"A有","12309A","ZNF415","chr19:53612745","c.553T>C(E4)","p.185,I>V","rs1133327",0.54,0.58,0.61,0.55,0.61,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF415",1,170,"错义",12220,"1.00=133/133",null,55786,"19q13.42","NM_001136038.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v26956",103,42,0.41,{"$nulls":3},"A有","12309A","ZNF438","chr10:31138817","c.517G>A(E7)","p.173,P>S","rs10160116",0.38,0.38,0.34,0.42,0.35,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF438",1,120,"错义",12210,"0.40=61/153",null,220929,"10p11.23","NM_001143766.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27010",2,2,1,{"$nulls":3},"A有","12309A","ZNF469","chr16:88494947","c.1069T>C(E1)","p.357,S>P","rs11648572",0.99,1,1,1,0.82,1,"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",0.85,12,"错义",12220,"1.00=4/4",null,84627,"16q24","NM_001127464.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1524",41,23,0.56,{"$nulls":3},"A有","12309A","ZNF480","chr19:52826165","m.1732C>T(E5)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZNF480",1,180,"非编码区",14400,"0.59=34/58",null,147657,"19q13.41","NM_144684.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v598",136,58,0.43,{"$nulls":3},"A有","12309A","ZNF534","chr19:52938361","c.170C>A(E3)","p.57,T>N","rs11084161",0.82,0.67,0.67,0.66,0.69,0.67,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF534",1,190,"错义",12220,"0.38=85/224",null,147658,"19q13.41","NM_001143938.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18702",22,12,0.55,{"$nulls":3},"A有","12309A","ZNF544","chr19:58774224-58774224","m.2726(E7):缺失C","非编码区","rs34204906",0.3,0.55,0.48,0.62,0.051,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,2,0,"ZNF544",1,130,"非编码区",2420,"0.52=12/23",null,27300,"19q13.43","NM_014480.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1096",40,22,0.55,{"$nulls":3},"A有","12309A","ZNF568","chr19:37441980","c.1922A>G(E7)","p.641,Q>R","rs1644634",0.55,0.3,0.29,0.32,0.29,0.32,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,14,0,"ZNF568",0.91,98,"错义",12220,"0.52=27/52",null,374900,"19q13.12","NM_001204835.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20972",71,71,1,{"$nulls":3},"A有","12309A","ZNF595","chr4:87277","c.1882G>C(E4)","p.628,V>L","rs2006764",1,1,1,1,0.97,1,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF595",1,270,"错义",12230,"1.00=123/123",null,152687,"4p16.3","NM_182524.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v29817",115,114,0.99,{"$nulls":3},"A有","12309A","ZNF610","chr19:52869022","c.391G>T(E6)","p.131,A>S","rs2241586",0.82,0.6,0.63,0.57,0.57,0.61,"纯合","无关","有rs号，MAF>=5%",18817904,{"$nulls":3},5,null,5,0,"ZNF610",1,200,"错义",12220,"0.99=191/192",null,162963,"19q13.41","NM_001161425.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7140",108,108,1,{"$nulls":3},"A有","12309A","ZNF626","chr19:20808149","c.534A>G(E4)","p.178,C>C","rs1991528",0.78,0.82,0.83,0.82,0.81,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,12,0,"ZNF626",1,130,"同义",13203,"1.00=179/179",null,199777,"19p12","NM_001076675.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1963",183,75,0.41,{"$nulls":3},"A有","12309A","ZNF676","chr19:22375868","c.80C>T(E2)","p.27,G>E","rs8104929",0.44,0.32,0.3,0.34,null,0.36,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF676",1,140,"错义",12210,"0.36=126/346",null,163223,"19p12","NM_001001411.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25539",273,124,0.45,{"$nulls":3},"A有","12309A","ZNF705A","chr12:8329833","c.557G>A(E5)","p.186,R>H","rs11043758",{"$nulls":4},0.55,0.49,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,6,0,"ZNF705A",0.99,520,"错义",12320,"0.46=198/428",null,440077,"12p13.31","NM_001004328.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10429",246,109,0.44,{"$nulls":3},"A有","12309A","ZNF717","chr3:75786670","c.2104G>A(E5)","p.702,P>S","rs112822201",{"$nulls":4},0.47,null,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,27,0,"ZNF717",1,430,"错义",12310,"0.44=164/374",null,100131827,"3p12.3","NM_001128223.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22306",94,52,0.55,{"$nulls":3},"A有","12309A","ZNF732","chr4:266400","c.246G>T(E4)","p.82,T>T","rs181096689",0.0008,0,0,0,0.0046,0.0073,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZNF732",1,170,"同义",13103,"0.54=63/116",null,654254,"4p16.3","NM_001137608.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v31228",55,55,1,{"$nulls":3},"A有","12309A","ZNF736","chr7:63808867","c.626C>A(E5)","p.209,A>E","rs11976837",0.34,0.4,0.39,0.41,0.37,0.45,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF736",1,180,"错义",12210,"1.00=69/69",null,728927,"7q11.21","NM_001170905.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19380",12,12,1,{"$nulls":3},"A有","12309A","ZNF737","chr19:20727133","m.2056G>C(E4)","非编码区","rs33928",0.77,0.77,0.74,0.8,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF737",1,150,"非编码区",14200,"1.00=16/16",null,100129842,"19p12","NM_001159293.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19379",15,6,0.4,{"$nulls":3},"A有","12309A","ZNF737","chr19:20727144","m.2045A>G(E4)","非编码区","rs7246874",0.42,0.5,0.5,0.5,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF737",1,150,"非编码区",14200,"0.40=8/20",null,100129842,"19p12","NM_001159293.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19378",49,27,0.55,{"$nulls":3},"A有","12309A","ZNF737","chr19:20727463","c.1546T>C(E4)","p.516,K>E","rs10411329",0.42,0.5,0.5,0.5,0.47,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF737",1,150,"错义",12210,"0.54=43/79",null,100129842,"19p12","NM_001159293.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19377",46,22,0.48,{"$nulls":3},"A有","12309A","ZNF737","chr19:20727932","c.1077G>A(E4)","p.359,H>H","rs33926",0.56,0.66,0.64,0.67,0.65,0.64,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF737",1,150,"同义",13203,"0.51=36/71",null,100129842,"19p12","NM_001159293.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19383",59,18,0.31,{"$nulls":3},"A有","12309A","ZNF737","chr19:20728107-20728108","c.902(E4)至c.901(E4):插入T","插入移码","rs199763494",0.0026,0.0072,0.0095,0.0049,0.004,0.011,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,6,0,"ZNF737",1,150,"插入移码",2110,"0.32=20/62",null,100129842,"19p12","NM_001159293.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19381",116,62,0.53,{"$nulls":3},"A有","12309A","ZNF737","chr19:20735272","IVS3+9T>C","非编码区","rs7251976",0.46,0.52,0.51,0.52,null,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF737",1,150,"非编码区",16203,"0.56=112/200",null,100129842,"19p12","NM_001159293.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25734",21,7,0.33,{"$nulls":3},"A有","12309A","ZNF74","chr22:20759672","c.263G>A(E4)","p.88,G>E","rs3747076",0.1,0.37,0.36,0.37,0.29,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF74",1,43,"错义",12220,"0.43=13/30",null,7625,"22q11.21","NM_001256523.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25402",20,6,0.3,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ZNF740",1,130,"非编码区",14200,"0.27=6/22",null,283337,"12q13.13","NM_001004304.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v25403",59,30,0.51,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ZNF740",1,130,"非编码区",14200,"0.51=53/103",null,283337,"12q13.13","NM_001004304.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11420",38,18,0.47,{"$nulls":3},"A有","12309A","ZNF746","chr7:149191460","c.159G>A(E2)","p.53,A>A","rs112293204",0.35,0.52,0.55,0.48,0.47,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF746",0.86,40,"同义",13203,"0.46=24/52",null,155061,"7q36.1","NM_001163474.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11419",52,25,0.48,{"$nulls":3},"A有","12309A","ZNF746","chr7:149191568","c.51C>T(E2)","p.17,T>T","rs1000678",0.05,0.23,0.22,0.23,0.21,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZNF746",0.86,40,"同义",13103,"0.53=41/78",null,155061,"7q36.1","NM_001163474.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28142",74,41,0.55,{"$nulls":3},"A有","12309A","ZNF749","chr19:57955244","c.728A>G(E3)","p.243,Q>R","rs12986235",0.2,0.043,0.067,0.019,0.068,0.073,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF749",1,160,"错义",12220,"0.59=68/116",null,388567,"19q13.43","NM_001023561.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28141",91,47,0.52,{"$nulls":3},"A有","12309A","ZNF749","chr19:57956828","c.2312T>G(E3)","p.771,I>R","rs7246856",0.71,0.78,0.75,0.82,0.75,0.76,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF749",1,160,"错义",12220,"0.54=75/139",null,388567,"19q13.43","NM_001023561.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1451",20,10,0.5,{"$nulls":3},"A有","12309A","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,610227,3,2,2,1,"ZNF750",1,50,"非编码区",14100,"0.60=18/30",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"]
["12309A(99)v1452",7,2,0.29,{"$nulls":3},"A有","12309A","ZNF750","chr17:80790442","m.200T>G(E2)","非编码区","rs3744165",0.79,0.93,0.93,0.93,0.87,null,"杂合","无关","有rs号，MAF>=5%",null,"类脂溢性皮炎合并牛皮鲜",null,610227,5,2,2,1,"ZNF750",1,50,"非编码区",14200,"0.29=2/7",null,79755,"17q25.3","NM_024702.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28813",96,39,0.41,{"$nulls":3},"A有","12309A","ZNF76","chr6:35258465","c.597C>A(E7)","p.199,F>L","rs140038187",0.0026,0.0072,0,0.015,0.01,0.0095,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ZNF76",1,59,"错义",12110,"0.40=68/169",null,7629,"6p21.31","NM_003427.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28812",7,6,0.86,{"$nulls":3},"A有","12309A","ZNF76","chr6:35260503","c.1104C>T(E10)","p.368,H>H","rs1557567",0.63,0.67,0.7,0.64,0.61,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF76",1,59,"同义",13203,"0.78=7/9",null,7629,"6p21.31","NM_003427.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28811",8,6,0.75,{"$nulls":3},"A有","12309A","ZNF76","chr6:35260530","c.1131C>T(E10)","p.377,S>S","rs1557568",{"$nulls":4},0.62,0.66,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF76",1,59,"同义",13303,"0.78=7/9",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"]
["12309A(99)v29602",2,2,1,{"$nulls":3},"A有","12309A","ZNF761","chr19:53948386","m.188A>G(E2)","非编码区","rs11670677",0.54,0.52,0.52,0.53,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"非编码区",14200,"1.00=2/2",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"]
["12309A(99)v29609",32,25,0.78,{"$nulls":3},"A有","12309A","ZNF761","chr19:53952886-53952886","c.137(E5):缺失C","缺失移码","rs59092521",1,1,1,1,0.14,1,"杂合","未知","有rs号，MAF>=5%的移码突变",{"$nulls":4},4,null,10,0,"ZNF761",1,210,"缺失移码",2120,"0.75=27/36",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"]
["12309A(99)v29601",38,12,0.32,{"$nulls":3},"A有","12309A","ZNF761","chr19:53952901","IVS5+9A>G","非编码区","rs57791030",0.21,0.12,0.1,0.13,null,0.098,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"非编码区",16203,"0.28=13/47",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"]
["12309A(99)v29607",141,77,0.55,{"$nulls":3},"A有","12309A","ZNF761","chr19:53958126","c.366T>G(E6)","p.122,Y>X","rs2708743",0.64,0.53,0.54,0.53,0.52,0.55,"杂合","无关","理论上这种无义突变会导致蛋白翻译提前终止，高频MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"截断",15200,"0.55=115/210",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"]
["12309A(99)v29604",236,108,0.46,{"$nulls":3},"A有","12309A","ZNF761","chr19:53958263","c.503G>A(E6)","p.168,C>Y","rs1984432",0.74,0.57,0.59,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"错义",12230,"0.48=181/378",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"]
["12309A(99)v29608",165,75,0.45,{"$nulls":3},"A有","12309A","ZNF761","chr19:53958503","c.743G>T(E6)","p.248,W>L","rs117216773",0.0062,0.034,0.029,0.039,0.026,0.026,"杂合","未知","未知",{"$nulls":4},3,null,10,0,"ZNF761",1,210,"错义",12130,"0.47=119/255",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"]
["12309A(99)v29606",110,50,0.45,{"$nulls":3},"A有","12309A","ZNF761","chr19:53958798","c.1038G>T(E6)","p.346,S>S","rs72483991",0.054,0.16,0.17,0.14,0.11,0.13,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"同义",13203,"0.47=82/173",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"]
["12309A(99)v29603",37,23,0.62,{"$nulls":3},"A有","12309A","ZNF761","chr19:53960204","m.2902G>T(E6)","非编码区","rs72483992",0.054,0.16,0.17,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"非编码区",14200,"0.70=37/53",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"]
["12309A(99)v29605",31,17,0.55,{"$nulls":3},"A有","12309A","ZNF761","chr19:53960241","m.2939A>T(E6)","非编码区","rs72483994",0.054,0.16,0.17,0.14,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF761",1,210,"非编码区",14200,"0.64=30/47",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"]
["12309A(99)v29610",18,2,0.11,{"$nulls":3},"A有","12309A","ZNF761","chr19:53960688-53960692","m.3386(E6)至m.3390(E6):缺失CTTCA","非编码区","rs149377914",0.052,0.16,0.17,0.14,0.005,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,10,0,"ZNF761",1,210,"非编码区",2420,"0.13=3/23",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"]
["12309A(99)v18560",72,35,0.49,{"$nulls":3},"A有","12309A","ZNF763","chr19:12090765","m.2190C>A(E4)","非编码区","rs279142",0.86,0.7,0.74,0.67,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF763",1,320,"非编码区",14200,"0.48=54/112",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"]
["12309A(99)v20862",78,41,0.53,{"$nulls":3},"A有","12309A","ZNF765","chr19:53911973","c.1165A>G(E4)","p.389,S>G","rs10425136",0.77,0.67,0.7,0.65,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"错义",12220,"0.46=58/126",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"]
["12309A(99)v20863",152,79,0.52,{"$nulls":3},"A有","12309A","ZNF765","chr19:53912242","c.1434G>A(E4)","p.478,T>T","rs10426347",0.77,0.67,0.7,0.65,0.66,0.66,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"同义",13203,"0.51=123/241",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"]
["12309A(99)v20865",60,28,0.47,{"$nulls":3},"A有","12309A","ZNF765","chr19:53912548","m.1863T>C(E4)","非编码区","rs7246019",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.52=57/110",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"]
["12309A(99)v20866",55,29,0.53,{"$nulls":3},"A有","12309A","ZNF765","chr19:53912770","m.2085G>A(E4)","非编码区","rs12461238",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.58=53/91",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"]
["12309A(99)v20867",69,22,0.32,{"$nulls":3},"A有","12309A","ZNF765","chr19:53912805-53912806","m.2120(E4)至m.2121(E4):插入AC","非编码区","rs35942807",null,0.67,0.7,0.65,0.11,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"ZNF765",1,260,"非编码区",2430,"0.30=27/90",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"]
["12309A(99)v20864",38,23,0.61,{"$nulls":3},"A有","12309A","ZNF765","chr19:53913555","m.2870C>G(E4)","非编码区","rs6509753",0.77,0.67,0.7,0.65,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.66=33/50",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"]
["12309A(99)v20861",29,18,0.62,{"$nulls":3},"A有","12309A","ZNF765","chr19:53914108","m.3423C>T(E4)","非编码区","rs2068630",0.76,0.68,0.7,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF765",1,260,"非编码区",14200,"0.61=25/41",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"]
["12309A(99)v23398",47,47,1,{"$nulls":3},"A有","12309A","ZNF77","chr19:2933480","m.1776C>T(E4)","非编码区","rs3786948",0.67,0.56,0.55,0.57,null,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"非编码区",14200,"1.00=58/58",null,58492,"19p13.3","NM_021217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23397",90,90,1,{"$nulls":3},"A有","12309A","ZNF77","chr19:2934282","c.843T>C(E4)","p.281,S>S","rs3746073",0.84,0.56,0.55,0.57,0.51,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"同义",13203,"1.00=166/166",null,58492,"19p13.3","NM_021217.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23399",170,170,1,{"$nulls":3},"A有","12309A","ZNF77","chr19:2936623","c.210C>T(E3)","p.70,E>E","rs4807371",0.84,0.56,0.55,0.57,0.5,0.54,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"同义",13203,"1.00=273/274",null,58492,"19p13.3","NM_021217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23396",78,43,0.55,{"$nulls":3},"A有","12309A","ZNF77","chr19:2939289","c.120A>C(E2)","p.40,L>L","rs12608916",0.18,0.39,0.38,0.39,0.36,0.023,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"同义",13203,"0.58=74/127",null,58492,"19p13.3","NM_021217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23394",106,49,0.46,{"$nulls":3},"A有","12309A","ZNF77","chr19:2939396","c.13T>C(E2)","p.5,I>V","rs12609268",0.18,0.39,0.38,0.39,0.35,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"错义",12220,"0.40=74/184",null,58492,"19p13.3","NM_021217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23395",107,48,0.45,{"$nulls":3},"A有","12309A","ZNF77","chr19:2939401","c.8C>G(E2)","p.3,C>S","rs12610412",0.18,0.39,0.38,0.39,0.35,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF77",1,130,"错义",12220,"0.40=76/188",null,58492,"19p13.3","NM_021217.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15513",42,21,0.5,{"$nulls":3},"A有","12309A","ZNF770","chr15:35273620","c.2016C>T(E3)","p.672,Q>Q","rs4923849",0.47,0.38,0.4,0.37,0.29,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF770",1,130,"同义",13203,"0.50=27/54",null,54989,"15q14","NM_014106.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11289",9,4,0.44,{"$nulls":3},"A有","12309A","ZNF772","chr19:57984426","m.1947C>A(E5)","非编码区","rs10407042",0.41,0.63,0.6,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF772",1,160,"非编码区",14200,"0.40=4/10",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"]
["12309A(99)v11288",102,53,0.52,{"$nulls":3},"A有","12309A","ZNF772","chr19:57984918","c.1194A>G(E5)","p.398,S>S","rs2074058",0.41,0.63,0.6,0.66,0.64,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF772",1,160,"同义",13203,"0.52=86/165",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"]
["12309A(99)v11287",90,90,1,{"$nulls":3},"A有","12309A","ZNF772","chr19:57985460","c.652T>A(E5)","p.218,M>L","rs2074059",null,0.69,0.68,0.71,0.73,0.72,"纯合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,4,0,"ZNF772",1,160,"错义",12320,"1.00=132/132",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"]
["12309A(99)v11286",111,111,1,{"$nulls":3},"A有","12309A","ZNF772","chr19:57985566","c.546G>C(E5)","p.182,C>W","rs2074060",0.68,0.69,0.68,0.71,0.73,0.72,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF772",1,160,"错义",12220,"1.00=167/167",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"]
["12309A(99)v6633",4,2,0.5,{"$nulls":3},"A有","12309A","ZNF773","chr19:58011421","m.113G>T(E1)","非编码区","rs12463137",0.26,0.31,0.27,0.35,0.22,0.47,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF773",1,220,"非编码区",14200,"0.50=3/6",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"]
["12309A(99)v6632",37,13,0.35,{"$nulls":3},"A有","12309A","ZNF773","chr19:58018848","m.1525A>G(E4)","非编码区","rs2066936",0.44,0.62,0.58,0.66,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF773",1,220,"非编码区",14200,"0.34=15/44",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"]
["12309A(99)v20653",53,53,1,{"$nulls":3},"A有","12309A","ZNF774","chr15:90903311","c.248A>G(E4)","p.83,N>S","rs2589957",0.69,0.84,0.86,0.83,0.81,0.86,"纯合","无关","有rs号，MAF>=5%",18817904,{"$nulls":3},5,null,2,0,"ZNF774",1,150,"错义",12220,"1.00=81/81",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"]
["12309A(99)v20652",87,40,0.46,{"$nulls":3},"A有","12309A","ZNF774","chr15:90903502","c.439G>A(E4)","p.147,V>I","rs11854320",0.096,0.058,0.052,0.063,0.031,0.049,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF774",1,150,"错义",12220,"0.50=70/140",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"]
["12309A(99)v19834",12,7,0.58,{"$nulls":3},"A有","12309A","ZNF776","chr19:58258466","IVS1+7G>T","非编码区","rs60751243",0.28,0.47,0.49,0.46,0.41,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,190,"非编码区",16203,"0.53=9/17",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"]
["12309A(99)v19833",8,6,0.75,{"$nulls":3},"A有","12309A","ZNF776","chr19:58266192","m.1957C>T(E3)","非编码区","rs12609667",0.3,0.45,0.47,0.44,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF776",1,190,"非编码区",14200,"0.67=6/9",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"]
["12309A(99)v22598",5,2,0.4,{"$nulls":3},"A有","12309A","ZNF777","chr7:149129829","c.1534C>T(E6)","p.512,A>T","rs17852167",0.15,0.14,0.13,0.16,0.11,0.12,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF777",1,35,"错义",12220,"0.38=3/8",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"]
["12309A(99)v22597",25,24,0.96,{"$nulls":3},"A有","12309A","ZNF777","chr7:149152770","c.344A>G(E2)","p.115,V>A","rs3735319",0.66,0.8,0.83,0.78,0.77,0.83,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF777",1,35,"错义",12220,"0.97=29/30",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"]
["12309A(99)v22596",48,47,0.98,{"$nulls":3},"A有","12309A","ZNF777","chr7:149152906","c.208G>A(E2)","p.70,R>W","rs3735318",0.6,0.8,0.82,0.78,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF777",1,35,"错义",12220,"0.97=75/77",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"]
["12309A(99)v4956",21,10,0.48,{"$nulls":3},"A有","12309A","ZNF778","chr16:89287481","m.285C>A(E2)","非编码区","rs117976521",0.04,0.082,0.09,0.073,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"ZNF778",0.96,140,"非编码区",14100,"0.44=15/34",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"]
["12309A(99)v4959",130,68,0.52,{"$nulls":3},"A有","12309A","ZNF778","chr16:89289624","c.177G>A(E4)","p.59,L>L","rs12920028",0.12,0.1,0.12,0.083,0.094,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.50=109/219",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"]
["12309A(99)v4958",56,20,0.36,{"$nulls":3},"A有","12309A","ZNF778","chr16:89293291","c.595G>A(E7)","p.199,V>M","rs117690401",0.041,0.082,0.09,0.073,0.079,0.085,"杂合","未知","蛋白结构预测结果为容忍或无害",{"$nulls":4},3,null,11,0,"ZNF778",0.96,140,"错义",12120,"0.31=26/83",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"]
["12309A(99)v4966",62,29,0.47,{"$nulls":3},"A有","12309A","ZNF778","chr16:89293614","c.918A>G(E7)","p.306,E>E","rs4785626",0.77,0.89,0.88,0.9,0.89,0.88,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.45=42/94",null,197320,"16q24.3","NM_001201407.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4962",87,45,0.52,{"$nulls":3},"A有","12309A","ZNF778","chr16:89294184","c.1488G>A(E7)","p.496,A>A","rs4785627",0.77,0.89,0.88,0.9,0.9,0.88,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.53=67/126",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"]
["12309A(99)v4965",116,58,0.5,{"$nulls":3},"A有","12309A","ZNF778","chr16:89294381","c.1685T>C(E7)","p.562,I>T","rs28415940",0.7,0.68,0.68,0.68,0.72,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"错义",12220,"0.48=86/179",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"]
["12309A(99)v4957",113,55,0.49,{"$nulls":3},"A有","12309A","ZNF778","chr16:89294439","c.1743G>T(E7)","p.581,Q>H","rs9921361",0.7,0.68,0.68,0.68,0.72,0.71,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"错义",12220,"0.50=89/178",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"]
["12309A(99)v4961",99,50,0.51,{"$nulls":3},"A有","12309A","ZNF778","chr16:89294511","c.1815C>T(E7)","p.605,T>T","rs28638280",0.77,0.89,0.88,0.9,0.89,0.88,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.51=76/150",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"]
["12309A(99)v4960",89,43,0.48,{"$nulls":3},"A有","12309A","ZNF778","chr16:89294697","c.2001C>T(E7)","p.667,H>H","rs60437616",0.7,0.68,0.68,0.68,0.7,0.7,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"同义",13203,"0.50=73/145",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"]
["12309A(99)v4964",82,35,0.43,{"$nulls":3},"A有","12309A","ZNF778","chr16:89294798","c.2102A>G(E7)","p.701,Y>C","rs118093429",0.041,0.082,0.09,0.073,0.073,0.086,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,11,0,"ZNF778",0.96,140,"错义",12110,"0.42=50/118",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"]
["12309A(99)v4963",7,5,0.71,{"$nulls":3},"A有","12309A","ZNF778","chr16:89295046","m.2689T>C(E7)","非编码区","rs12927047",0.23,0.11,0.12,0.1,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,11,0,"ZNF778",0.96,140,"非编码区",14200,"0.71=5/7",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"]
["12309A(99)v26979",76,76,1,{"$nulls":3},"A有","12309A","ZNF782","chr9:99580834","c.1471A>C(E6)","p.491,S>A","rs75989782",0.033,0.096,0.081,0.11,0.12,0.11,"纯合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,3,0,"ZNF782",1,140,"错义",12110,"1.00=124/124",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"]
["12309A(99)v26978",63,63,1,{"$nulls":3},"A有","12309A","ZNF782","chr9:99581811","c.494C>T(E6)","p.165,R>H","rs4645656",0.27,0.32,0.29,0.35,0.36,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,140,"错义",12220,"0.99=89/90",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"]
["12309A(99)v26980",57,57,1,{"$nulls":3},"A有","12309A","ZNF782","chr9:99581916","c.389C>G(E6)","p.130,R>P","rs7870376",0.22,0.32,0.29,0.35,0.35,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF782",1,140,"错义",12220,"1.00=94/94",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"]
["12309A(99)v9671",85,36,0.42,{"$nulls":3},"A有","12309A","ZNF790","chr19:37310344","c.902T>C(E5)","p.301,Q>R","rs3745775",0.29,0.24,0.21,0.26,0.2,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF790",1,170,"错义",12210,"0.39=49/126",null,388536,"19q13.12","NM_001242800.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13407",31,31,1,{"$nulls":3},"A有","12309A","ZNF792","chr19:35448803","m.2343C>A(E4)","非编码区","rs1063235",0.65,0.64,0.67,0.62,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"非编码区",14200,"1.00=47/47",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"]
["12309A(99)v13406",75,75,1,{"$nulls":3},"A有","12309A","ZNF792","chr19:35449409","c.1350G>A(E4)","p.450,H>H","rs2651081",0.33,0.19,0.18,0.21,0.25,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"同义",13203,"1.00=124/124",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"]
["12309A(99)v13405",56,56,1,{"$nulls":3},"A有","12309A","ZNF792","chr19:35449760","c.999G>C(E4)","p.333,T>T","rs2651080",0.32,0.19,0.18,0.21,0.24,0.22,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"同义",13203,"1.00=83/83",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"]
["12309A(99)v13404",55,55,1,{"$nulls":3},"A有","12309A","ZNF792","chr19:35450229","c.530C>T(E4)","p.177,R>Q","rs2651079",0.63,0.64,0.66,0.62,0.63,0.62,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"错义",12220,"1.00=87/87",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"]
["12309A(99)v13403",6,6,1,{"$nulls":3},"A有","12309A","ZNF792","chr19:35454604","m.350A>C(E1)","非编码区","rs2546028",0.64,0.65,0.67,0.63,null,0.61,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"非编码区",14200,"1.00=8/8",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"]
["12309A(99)v13402",6,6,1,{"$nulls":3},"A有","12309A","ZNF792","chr19:35454605","m.349A>G(E1)","非编码区","rs2546029",0.64,0.65,0.67,0.63,null,0.6,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,6,0,"ZNF792",1,100,"非编码区",14200,"1.00=8/8",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"]
["12309A(99)v83",154,81,0.53,{"$nulls":3},"A有","12309A","ZNF799","chr19:12502457","c.755A>G(E4)","p.252,L>P","rs4804669",0.72,0.54,0.5,0.58,0.55,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF799",1,300,"错义",12220,"0.53=128/243",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"]
["12309A(99)v4564",108,51,0.47,{"$nulls":3},"A有","12309A","ZNF8","chr19:58806083","c.909T>C(E4)","p.303,H>H","rs260471",0.38,0.48,0.41,0.54,0.5,0.46,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF8",1,83,"同义",13203,"0.50=92/183",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"]
["12309A(99)v13156",103,56,0.54,{"$nulls":3},"A有","12309A","ZNF80","chr3:113955164","c.758T>G(E1)","p.253,D>A","rs3732782",0.69,0.56,0.6,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",19217756,{"$nulls":3},5,null,4,0,"ZNF80",1,150,"错义",12220,"0.49=87/177",null,7634,"3q13.3","NM_007136.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13155",115,57,0.5,{"$nulls":3},"A有","12309A","ZNF80","chr3:113955265","c.657G>A(E1)","p.219,C>C","rs6438190",0.69,0.56,0.59,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,150,"同义",13203,"0.48=96/202",null,7634,"3q13.3","NM_007136.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13154",128,56,0.44,{"$nulls":3},"A有","12309A","ZNF80","chr3:113955320","c.602C>T(E1)","p.201,R>H","rs6438191",0.69,0.56,0.59,0.53,0.54,0.54,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,150,"错义",12220,"0.47=94/198",null,7634,"3q13.3","NM_007136.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13153",75,40,0.53,{"$nulls":3},"A有","12309A","ZNF80","chr3:113955820","c.102G>C(E1)","p.34,S>S","rs3732780",0.31,0.38,0.42,0.34,0.38,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF80",1,150,"同义",13203,"0.53=60/113",null,7634,"3q13.3","NM_007136.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3638",92,92,1,{"$nulls":3},"A有","12309A","ZNF804A","chr2:185800905","c.782A>T(E4)","p.261,Q>L","rs12476147",0.62,0.85,0.88,0.81,0.8,0.85,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF804A",1,160,"错义",12220,"1.00=126/126",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"]
["12309A(99)v3641",51,51,1,{"$nulls":3},"A有","12309A","ZNF804A","chr2:185801747","c.1624G>A(E4)","p.542,E>K","rs4667001",0.49,0.86,0.89,0.83,0.79,0.85,"纯合","无关","有rs号，MAF>=5%","19844207;23155182",{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"错义",12220,"1.00=73/73",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"]
["12309A(99)v3637",48,48,1,{"$nulls":3},"A有","12309A","ZNF804A","chr2:185801755","c.1632A>G(E4)","p.544,T>T","rs4667002",0.79,0.89,0.91,0.87,0.86,0.89,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,8,0,"ZNF804A",1,160,"同义",13203,"1.00=71/71",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"]
["12309A(99)v3636",34,33,0.97,{"$nulls":3},"A有","12309A","ZNF804A","chr2:185801917","c.1794A>G(E4)","p.598,K>K","rs728534",0.16,0.25,0.23,0.26,0.21,0.25,"纯合","无关","有rs号，MAF>=5%",14681825,{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"同义",13203,"0.98=43/44",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"]
["12309A(99)v3643",146,108,0.74,{"$nulls":3},"A有","12309A","ZNF804A","chr2:185802211-185802212","c.2088(E4)至c.2089(E4):插入ACA","插入非移码","rs5836928",0.49,0.86,0.89,0.83,0.12,0.85,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,8,0,"ZNF804A",1,160,"插入非移码",2221,"0.73=117/160",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"]
["12309A(99)v3640",113,113,1,{"$nulls":3},"A有","12309A","ZNF804A","chr2:185802243","c.2120C>A(E4)","p.707,T>K","rs1366842",0.49,0.86,0.89,0.83,0.8,0.85,"纯合","无关","有rs号，MAF>=5%","14681825;22871346",{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"错义",12220,"1.00=179/179",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"]
["12309A(99)v3642",54,54,1,{"$nulls":3},"A有","12309A","ZNF804A","chr2:185802363","c.2240A>G(E4)","p.747,H>R","rs12477430",0.7,0.88,0.9,0.85,0.84,0.87,"纯合","无关","有rs号，MAF>=5%",19844207,{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"错义",12220,"1.00=71/71",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"]
["12309A(99)v3639",40,16,0.4,{"$nulls":3},"A有","12309A","ZNF804A","chr2:185803364","c.3241C>G(E4)","p.1081,L>V","rs3731834",0.15,0.21,0.2,0.21,0.23,0.21,"杂合","无关","有rs号，MAF>=5%","14681825;22871346;23155182",{"$nulls":3},5,null,8,0,"ZNF804A",1,160,"错义",12220,"0.40=21/53",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"]
["12309A(99)v26774",169,169,1,{"$nulls":3},"A有","12309A","ZNF804B","chr7:88956699","c.291A>G(E3)","p.97,V>V","rs38971",0.31,0.69,0.67,0.7,0.67,0.7,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"同义",13203,"0.99=320/323",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"]
["12309A(99)v26772",154,153,0.99,{"$nulls":3},"A有","12309A","ZNF804B","chr7:88963039","c.743G>A(E4)","p.248,C>Y","rs1916830",0.15,0.45,0.44,0.47,0.43,0.46,"纯合","无关","有rs号，MAF>=5%",20547088,{"$nulls":3},5,null,4,0,"ZNF804B",1,170,"错义",12210,"1.00=293/294",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"]
["12309A(99)v26773",89,89,1,{"$nulls":3},"A有","12309A","ZNF804B","chr7:88964000","c.1704C>T(E4)","p.568,F>F","rs801839",0.51,0.68,0.67,0.68,0.59,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"同义",13203,"1.00=130/130",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"]
["12309A(99)v26771",165,165,1,{"$nulls":3},"A有","12309A","ZNF804B","chr7:88964196","c.1900T>A(E4)","p.634,F>I","rs801840",0.52,0.68,0.67,0.68,0.6,0.69,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF804B",1,170,"错义",12220,"1.00=287/288",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"]
["12309A(99)v26256",30,30,1,{"$nulls":3},"A有","12309A","ZNF808","chr19:53059235","m.3243T>G(E5)","非编码区","rs9676916",0.3,0.5,0.48,0.52,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF808",1,210,"非编码区",14200,"1.00=51/51",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"]
["12309A(99)v13842",492,125,0.25,{"$nulls":3},"A有","12309A","ZNF813","chr19:53989945","c.75G>A(E3)","p.25,L>L","rs34008652",{"$nulls":4},0.15,0.16,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ZNF813",1,250,"同义",13303,"0.22=211/955",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13837",555,124,0.22,{"$nulls":3},"A有","12309A","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",1,250,"同义",13303,"0.20=226/1118",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"]
["12309A(99)v13844",565,162,0.29,{"$nulls":3},"A有","12309A","ZNF813","chr19:53990002","c.132G>A(E3)","p.44,L>L","rs12974996",{"$nulls":4},0.26,0.28,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ZNF813",1,250,"同义",13303,"0.30=343/1147",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13836",534,124,0.23,{"$nulls":3},"A有","12309A","ZNF813","chr19:53990021","IVS3+9A>G","非编码区","rs201888467",{"$nulls":5},0.097,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,13,0,"ZNF813",1,250,"非编码区",16303,"0.22=230/1044",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"]
["12309A(99)v13846",108,54,0.5,{"$nulls":3},"A有","12309A","ZNF813","chr19:53993670","c.184G>A(E4)","p.62,A>T","rs2617667",0.3,0.24,0.2,0.28,0.21,0.23,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"错义",12220,"0.54=93/173",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"]
["12309A(99)v13843",155,79,0.51,{"$nulls":3},"A有","12309A","ZNF813","chr19:53993764","c.278A>T(E4)","p.93,D>V","rs12609217",0.06,0.21,0.24,0.17,0.2,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"错义",12210,"0.48=116/244",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"]
["12309A(99)v13835",153,73,0.48,{"$nulls":3},"A有","12309A","ZNF813","chr19:53993988","c.502A>T(E4)","p.168,I>F","rs12460628",0.092,0.11,0.095,0.13,0.098,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"错义",12210,"0.50=126/253",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"]
["12309A(99)v13840",137,57,0.42,{"$nulls":3},"A有","12309A","ZNF813","chr19:53994178","c.692G>A(E4)","p.231,R>K","rs10421308",0.092,0.11,0.095,0.13,0.097,0.11,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"错义",12220,"0.43=87/204",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"]
["12309A(99)v13838",126,126,1,{"$nulls":3},"A有","12309A","ZNF813","chr19:53995004","c.1518G>A(E4)","p.506,R>R","rs2708845",0.78,0.64,0.65,0.64,0.6,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"同义",13203,"1.00=195/195",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"]
["12309A(99)v13839",33,15,0.45,{"$nulls":3},"A有","12309A","ZNF813","chr19:53995530","m.2172A>C(E4)","非编码区","rs10402859",0.093,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"非编码区",14200,"0.40=19/47",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13841",50,35,0.7,{"$nulls":3},"A有","12309A","ZNF813","chr19:53995750","m.2392C>T(E4)","非编码区","rs2708843",0.5,0.31,0.28,0.34,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"非编码区",14200,"0.72=53/74",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"]
["12309A(99)v13847",46,21,0.46,{"$nulls":3},"A有","12309A","ZNF813","chr19:53996130-53996131","m.2772(E4)至m.2773(E4):插入AT","非编码区","rs58474905",0.31,0.24,0.2,0.28,0.034,null,"杂合","未知","有rs号，MAF>=5%的UTR突变",{"$nulls":4},4,null,13,0,"ZNF813",1,250,"非编码区",2420,"0.47=22/47",null,126017,"19q13.42","NM_001004301.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v13845",29,16,0.55,{"$nulls":3},"A有","12309A","ZNF813","chr19:53996295","m.2937C>T(E4)","非编码区","rs10409961",0.091,0.11,0.095,0.13,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,13,0,"ZNF813",1,250,"非编码区",14200,"0.57=23/40",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"]
["12309A(99)v3473",45,45,1,{"$nulls":3},"A有","12309A","ZNF814","chr19:58383921","m.3109C>T(E3)","非编码区","rs4801239",0.81,0.72,0.76,0.68,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF814",1,230,"非编码区",14200,"1.00=89/89",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"]
["12309A(99)v3476",183,77,0.42,{"$nulls":3},"A有","12309A","ZNF814","chr19:58384784-58384787","c.1974(E3)至c.1971(E3):缺失TCTT","缺失移码",{"$nulls":6},0.0011,"杂合","较高","理论上这种移码突变会导致蛋白序列明显改变",{"$nulls":4},1,null,4,0,"ZNF814",1,230,"缺失移码",2140,"0.41=82/198",null,730051,"19q13.43","NM_001144989.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3475",211,69,0.33,{"$nulls":3},"A有","12309A","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",1,230,"错义",12320,"0.33=122/373",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"]
["12309A(99)v3474",131,65,0.5,{"$nulls":3},"A有","12309A","ZNF814","chr19:58385954","c.804T>C(E3)","p.268,K>K","rs10412929",0.31,0.45,0.47,0.43,0.45,0.38,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF814",1,230,"同义",13203,"0.50=87/175",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"]
["12309A(99)v7988",45,26,0.58,{"$nulls":3},"A有","12309A","ZNF816","chr19:53452769","m.2610A>G(E5)","非编码区","rs1044467",0.45,0.32,0.33,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.55=42/76",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7985",54,26,0.48,{"$nulls":3},"A有","12309A","ZNF816","chr19:53452944","m.2435T>G(E5)","非编码区","rs1808106",0.45,0.32,0.33,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.42=32/76",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7990",59,28,0.47,{"$nulls":3},"A有","12309A","ZNF816","chr19:53452965","m.2414C>T(E5)","非编码区","rs3745177",0.35,0.37,0.38,0.35,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"非编码区",14200,"0.41=35/86",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7989",114,51,0.45,{"$nulls":3},"A有","12309A","ZNF816","chr19:53453777","c.1251C>T(E5)","p.417,K>K","rs8110062",{"$nulls":4},0.32,0.34,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"ZNF816",1,200,"同义",13303,"0.42=74/176",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7987",101,40,0.4,{"$nulls":3},"A有","12309A","ZNF816","chr19:53454387","c.641G>C(E5)","p.214,S>C","rs57088011",0.05,0.082,0.062,0.1,0.072,0.054,"杂合","可能相关","蛋白结构预测结果为有害",{"$nulls":4},2,null,7,0,"ZNF816",1,200,"错义",12110,"0.38=57/151",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7991",177,54,0.31,{"$nulls":3},"A有","12309A","ZNF816","chr19:53454475-53454476","c.553(E5)至c.552(E5):插入ACT","插入非移码","rs33949217",0.47,0.21,0.24,0.17,0.07,0.4,"杂合","未知","有rs号，MAF>=5%的非移码突变",{"$nulls":4},4,null,7,0,"ZNF816",1,200,"插入非移码",2222,"0.29=64/217",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7986",85,49,0.58,{"$nulls":3},"A有","12309A","ZNF816","chr19:53454789","c.239A>T(E5)","p.80,I>N","rs12459008",0.46,0.31,0.33,0.3,0.32,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,7,0,"ZNF816",1,200,"错义",12220,"0.57=91/160",null,125893,"19q13.41","NM_001031665.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v19563",11,11,1,{"$nulls":3},"A有","12309A","ZNF823","chr19:11832283","m.2192A>G(E4)","非编码区","rs5851",0.52,0.48,0.5,0.46,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF823",1,210,"非编码区",14200,"1.00=11/11",null,55552,"19p13.2","NM_001080493.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3258",42,42,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ZNF830",1,100,"错义",12220,"1.00=60/60",null,91603,"17q12","NM_052857.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22018",75,75,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ZNF831",0.96,46,"错义",12220,"1.00=107/107",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v22019",41,30,0.73,{"$nulls":3},"A有","12309A","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",{"$nulls":4},4,null,2,0,"ZNF831",0.96,46,"非编码区",2420,"0.70=37/53",null,128611,"20q13.32","NM_178457.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10264",3,3,1,{"$nulls":3},"A有","12309A","ZNF835","chr19:57175484","c.1083A>G(E2)","p.361,P>P","rs7250003",0.47,0.47,0.46,0.47,0.38,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF835",1,23,"同义",13203,"1.00=4/4",null,90485,"19q13.43","NM_001005850.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10266",24,24,1,{"$nulls":3},"A有","12309A","ZNF835","chr19:57176198","c.369T>G(E2)","p.123,S>S","rs8108756",0.47,0.46,0.45,0.47,0.41,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF835",1,23,"同义",13203,"1.00=36/36",null,90485,"19q13.43","NM_001005850.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10267",35,35,1,{"$nulls":3},"A有","12309A","ZNF835","chr19:57176304","c.263T>G(E2)","p.88,E>A","rs12460400",0.4,0.46,0.46,0.47,0.44,0.48,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF835",1,23,"错义",12220,"0.98=57/58",null,90485,"19q13.43","NM_001005850.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10265",44,44,1,{"$nulls":3},"A有","12309A","ZNF835","chr19:57176482","c.85C>T(E2)","p.29,E>K","rs12462469",0.41,0.46,0.46,0.47,0.44,0.49,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF835",1,23,"错义",12220,"1.00=70/70",null,90485,"19q13.43","NM_001005850.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28337",81,34,0.42,{"$nulls":3},"A有","12309A","ZNF836","chr19:52658510","c.2426T>C(E5)","p.809,N>S","rs8113504",0.29,0.4,0.44,0.37,0.36,0.41,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"错义",12220,"0.47=53/112",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28336",91,91,1,{"$nulls":3},"A有","12309A","ZNF836","chr19:52659991","c.945A>G(E5)","p.315,Y>Y","rs1821278",0.5,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"同义",13203,"1.00=140/140",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28339",71,71,1,{"$nulls":3},"A有","12309A","ZNF836","chr19:52660279","c.657C>T(E5)","p.219,M>I","rs1366245",0.48,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"错义",12220,"1.00=106/106",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28338",66,36,0.55,{"$nulls":3},"A有","12309A","ZNF836","chr19:52660783","c.153A>G(E5)","p.51,P>P","rs17696575",0.2,0.19,0.17,0.21,0.21,0.22,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF836",1,170,"同义",13203,"0.53=55/103",null,162962,"19q13.41","NM_001102657.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1600",133,60,0.45,{"$nulls":3},"A有","12309A","ZNF839","chr14:102792386","c.5T>C(E2)","p.2,L>P","rs7158731",0.42,0.35,0.3,0.4,0.36,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF839",0.9,93,"错义",12220,"0.42=94/226",null,55778,"14q32.31","NM_001267827.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1596",75,31,0.41,{"$nulls":3},"A有","12309A","ZNF839","chr14:102792631","c.250G>A(E2)","p.84,D>N","rs7158139",0.42,0.35,0.3,0.4,0.35,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF839",0.9,93,"错义",12220,"0.40=40/100",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1599",98,54,0.55,{"$nulls":3},"A有","12309A","ZNF839","chr14:102798055","c.940G>A(E3)","p.314,A>T","rs1543540",0.17,0.3,0.25,0.35,0.32,0.35,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF839",0.9,93,"错义",12220,"0.54=86/160",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1597",52,26,0.5,{"$nulls":3},"A有","12309A","ZNF839","chr14:102808330","c.2250C>T(E8)","p.750,V>V","rs12590618",0.27,0.5,0.53,0.48,0.48,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF839",0.9,93,"同义",13203,"0.48=42/88",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1601",6,2,0.33,{"$nulls":3},"A有","12309A","ZNF839","chr14:102808655","m.2925G>C(E8)","非编码区","rs11704",0.27,0.51,0.54,0.48,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF839",0.9,93,"非编码区",14200,"0.29=2/7",null,55778,"14q32.31","NM_001267827.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18179",59,23,0.39,{"$nulls":3},"A有","12309A","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",1,320,"剪切位点",16302,"0.42=35/84",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"]
["12309A(99)v18176",90,88,0.98,{"$nulls":3},"A有","12309A","ZNF84","chr12:133634450","c.1149A>C(E5)","p.383,A>A","rs115172135",{"$nulls":4},1,null,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF84",1,320,"同义",13303,"0.99=138/140",null,7637,"12q24.33","NM_001127372.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18178",25,25,1,{"$nulls":3},"A有","12309A","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",1,320,"非编码区",14300,"1.00=28/28",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"]
["12309A(99)v31495",175,94,0.54,{"$nulls":3},"A有","12309A","ZNF845","chr19:53854397","c.469G>C(E4)","p.157,E>Q","rs10415799",0.34,0.45,0.48,0.43,0.49,0.49,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF845",1,210,"错义",12220,"0.53=152/288",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"]
["12309A(99)v31494",159,78,0.49,{"$nulls":3},"A有","12309A","ZNF845","chr19:53854753","c.825T>C(E4)","p.275,D>D","rs187114554",0.0002,0.0024,0,0.0049,0.0069,0.0037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF845",1,210,"同义",13103,"0.47=126/268",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"]
["12309A(99)v31496",111,64,0.58,{"$nulls":3},"A有","12309A","ZNF845","chr19:53856349","c.2421A>T(E4)","p.807,E>D","rs55874600",0.2,0.091,0.09,0.092,0.11,0.094,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF845",1,210,"错义",12220,"0.57=109/191",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"]
["12309A(99)v11087",24,7,0.29,{"$nulls":3},"A有","12309A","ZNF853","chr7:6656830","c.22G>A(E2)","p.8,G>R","rs2243563",0.74,0.76,0.76,0.76,0.72,0.78,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF853",0.86,20,"错义",12220,"0.28=11/40",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"]
["12309A(99)v11085",28,9,0.32,{"$nulls":3},"A有","12309A","ZNF853","chr7:6656897","c.89A>G(E2)","p.30,Q>R","rs1806552",0.77,0.76,0.76,0.77,0.74,0.79,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF853",0.86,20,"错义",12220,"0.26=14/54",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"]
["12309A(99)v11088",18,9,0.5,{"$nulls":3},"A有","12309A","ZNF853","chr7:6660790","c.168G>A(E3)","p.56,E>E","rs940873",0.41,0.55,0.54,0.55,0.49,0.5,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF853",0.86,20,"同义",13203,"0.50=11/22",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"]
["12309A(99)v11086",43,24,0.56,{"$nulls":3},"A有","12309A","ZNF853","chr7:6661256","c.634C>G(E3)","p.212,Q>E","rs11971880",0.098,0.06,0.057,0.063,0.072,0.047,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF853",0.86,20,"错义",12220,"0.55=36/66",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"]
["12309A(99)v11778",60,25,0.42,{"$nulls":3},"A有","12309A","ZNF860","chr3:32030544","m.522C>T(E2)","非编码区","rs11129475",0.39,0.28,0.27,0.29,null,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"非编码区",14200,"0.40=33/82",null,344787,"3p23","NM_001137674.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11781",140,64,0.46,{"$nulls":3},"A有","12309A","ZNF860","chr3:32031024","c.453C>T(E2)","p.151,I>I","rs4449357",0.43,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"同义",13203,"0.47=97/208",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11786",136,65,0.48,{"$nulls":3},"A有","12309A","ZNF860","chr3:32031135","c.564A>G(E2)","p.188,S>S","rs6419811",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"同义",13203,"0.45=104/230",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11780",130,57,0.44,{"$nulls":3},"A有","12309A","ZNF860","chr3:32031615","c.1044A>C(E2)","p.348,E>D","rs13064905",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12220,"0.42=82/193",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11782",134,59,0.44,{"$nulls":3},"A有","12309A","ZNF860","chr3:32031622","c.1051T>C(E2)","p.351,F>L","rs13087612",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12210,"0.43=84/196",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11779",148,60,0.41,{"$nulls":3},"A有","12309A","ZNF860","chr3:32031643","c.1072A>G(E2)","p.358,T>A","rs13065048",0.47,0.42,0.43,0.41,0.44,0.44,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12220,"0.44=95/218",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11783",142,60,0.42,{"$nulls":3},"A有","12309A","ZNF860","chr3:32031852","c.1281G>A(E2)","p.427,K>K","rs138977513",0.0074,0.036,0.029,0.044,0.04,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ZNF860",1,210,"同义",13103,"0.42=95/227",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11777",123,48,0.39,{"$nulls":3},"A有","12309A","ZNF860","chr3:32031962","c.1391A>G(E2)","p.464,H>R","rs1808125",0.62,0.74,0.78,0.71,0.73,0.37,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12220,"0.37=67/182",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11784",76,36,0.47,{"$nulls":3},"A有","12309A","ZNF860","chr3:32032397","c.1826G>T(E2)","p.609,R>L","rs4955216",0.43,0.28,0.27,0.29,0.27,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"错义",12220,"0.46=52/112",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11785",5,5,1,{"$nulls":3},"A有","12309A","ZNF860","chr3:32032743","m.2721T>G(E2)","非编码区","rs13094125",0.43,0.28,0.27,0.3,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZNF860",1,210,"非编码区",14200,"1.00=5/5",null,344787,"3p23","NM_001137674.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10067",38,37,0.97,{"$nulls":3},"A有","12309A","ZNF862","chr7:149556518","c.1125C>T(E6)","p.375,A>A","rs4725833",0.53,0.37,0.34,0.4,0.33,0.4,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,66,"同义",13203,"0.97=60/62",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"]
["12309A(99)v10066",6,6,1,{"$nulls":3},"A有","12309A","ZNF862","chr7:149558409","c.2160G>C(E7)","p.720,L>L","rs2240361",0.38,0.33,0.33,0.33,0.24,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,66,"同义",13203,"1.00=7/7",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"]
["12309A(99)v10068",29,29,1,{"$nulls":3},"A有","12309A","ZNF862","chr7:149559273","c.3024C>T(E7)","p.1008,L>L","rs2074700",0.37,0.33,0.33,0.33,0.28,0.31,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,66,"同义",13203,"1.00=37/37",null,643641,"7q36.1","NM_001099220.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10069",33,33,1,{"$nulls":3},"A有","12309A","ZNF862","chr7:149559465","c.3216C>T(E7)","p.1072,G>G","rs2074701",0.44,0.33,0.33,0.33,0.29,0.32,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZNF862",0.99,66,"同义",13203,"1.00=57/57",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"]
["12309A(99)v26509",111,54,0.49,{"$nulls":3},"A有","12309A","ZNF880","chr19:52887382","c.549G>A(E4)","p.183,P>P","rs74256648",0.014,0.05,0.043,0.058,0.056,0.09,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZNF880",1,200,"同义",13103,"0.47=76/161",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"]
["12309A(99)v12046",9,9,1,{"$nulls":3},"A有","12309A","ZNF883","chr9:115760587","m.1192G>A(E5)","非编码区","rs7036363",0.28,0.4,0.39,0.42,null,0.39,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF883",1,180,"非编码区",14200,"1.00=10/10",null,169834,"9q32","NM_001101338.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12045",7,7,1,{"$nulls":3},"A有","12309A","ZNF883","chr9:115760610","m.1169T>A(E5)","非编码区","rs11971",0.44,0.4,0.39,0.42,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF883",1,180,"非编码区",14200,"1.00=8/8",null,169834,"9q32","NM_001101338.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12047",3,3,1,{"$nulls":3},"A有","12309A","ZNF883","chr9:115761049","m.730C>A(E5)","非编码区","rs1324934",0.6,0.83,0.83,0.83,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF883",1,180,"非编码区",14200,"1.00=3/3",null,169834,"9q32","NM_001101338.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10012",101,39,0.39,{"$nulls":3},"A有","12309A","ZNF90","chr19:20228941","c.578A>G(E4)","p.193,K>R","rs61998186",0.12,0.34,0.37,0.32,0.28,0.34,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF90",1,190,"错义",12220,"0.34=50/148",null,7643,"19p12","NM_007138.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10011",97,42,0.43,{"$nulls":3},"A有","12309A","ZNF90","chr19:20229486","c.1123G>A(E4)","p.375,G>S","rs1725935",0.23,0.5,0.45,0.56,0.55,0.52,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF90",1,190,"错义",12210,"0.41=62/152",null,7643,"19p12","NM_007138.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v10013",29,19,0.66,{"$nulls":3},"A有","12309A","ZNF90","chr19:20230264","m.2040T>A(E4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZNF90",1,190,"非编码区",14200,"0.67=29/43",null,7643,"19p12","NM_007138.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27343",2,2,1,{"$nulls":3},"A有","12309A","ZNF91","chr19:23541372","m.4522A>T(E4)","非编码区","rs40561",0.62,0.81,0.8,0.81,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNF91",1,120,"非编码区",14200,"1.00=2/2",null,7644,"19p12","NM_003430.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v27342",7,4,0.57,{"$nulls":3},"A有","12309A","ZNF91","chr19:23541485","m.4409G>A(E4)","非编码区","rs3745111",0.023,0.017,0.0095,0.024,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZNF91",1,120,"非编码区",14100,"0.67=10/15",null,7644,"19p12","NM_003430.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28688",24,11,0.46,{"$nulls":3},"A有","12309A","ZNF92","chr7:64864894","m.1883C>T(E3)","非编码区","rs7796776",0.14,0.18,0.19,0.17,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF92",1,170,"非编码区",14200,"0.41=13/32",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"]
["12309A(99)v15217",140,70,0.5,{"$nulls":3},"A有","12309A","ZNF93","chr19:20044041","c.277G>T(E4)","p.93,D>Y","rs12151060",0.19,0.46,0.46,0.45,0.35,0.42,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNF93",1,180,"错义",12210,"0.51=110/216",null,81931,"19p12","NM_031218.3","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23213",130,101,0.78,{"$nulls":3},"A有","12309A","ZNF98","chr19:22574818","c.1219T>C(E4)","p.407,K>E","rs201005223",0.34,0.44,0.47,0.41,0.36,0.6,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"错义",12210,"0.73=146/201",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23215",100,100,1,{"$nulls":3},"A有","12309A","ZNF98","chr19:22575488","c.549C>T(E4)","p.183,K>K","rs7247735",0.4,0.46,0.49,0.42,0.46,0.44,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"同义",13203,"1.00=154/154",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23216",330,329,1,{"$nulls":3},"A有","12309A","ZNF98","chr19:22586192","c.153A>G(E2)","p.51,F>F","rs1368476",0.39,0.45,0.48,0.42,0.45,0.34,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"同义",13203,"0.99=492/496",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23212",47,47,1,{"$nulls":3},"A有","12309A","ZNF98","chr19:22605103","m.46G>C(E1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"非编码区",14200,"1.00=74/74",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v23214",39,39,1,{"$nulls":3},"A有","12309A","ZNF98","chr19:22605120","m.29G>T(E1)","非编码区","rs11669356",0.34,0.44,0.47,0.4,null,null,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,5,0,"ZNF98",1,210,"非编码区",14200,"1.00=57/57",null,148198,"19p12","NM_001098626.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15563",45,19,0.42,{"$nulls":3},"A有","12309A","ZNFX1","chr20:47865372","c.4189G>A(E14)","p.1397,L>L","rs238208",0.78,0.56,0.57,0.55,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNFX1",1,120,"同义",13203,"0.40=28/70",null,57169,"20q13.13","NM_021035.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15562",102,50,0.49,{"$nulls":3},"A有","12309A","ZNFX1","chr20:47886684","c.1665G>A(E3)","p.555,Y>Y","rs57950",0.78,0.56,0.57,0.55,0.58,0.63,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZNFX1",1,120,"同义",13203,"0.47=78/167",null,57169,"20q13.13","NM_021035.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v669",17,17,1,{"$nulls":3},"A有","12309A","ZNHIT2","chr11:64884052","c.1074G>A(E1)","p.358,A>A","rs1546532",0.89,0.9,0.91,0.9,0.84,0.94,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT2",0.49,6.5,"同义",13203,"1.00=21/21",null,741,"11q13","NM_014205.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15344",17,9,0.53,{"$nulls":3},"A有","12309A","ZNHIT3","chr17:34842521","m.49A>G(E1)","非编码区","rs4796224",0.51,0.46,0.49,0.44,null,0.48,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNHIT3",1,160,"非编码区",14200,"0.44=11/25",null,9326,"17q12","NM_004773.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2509",4,2,0.5,{"$nulls":3},"A有","12309A","ZNRF3","chr22:29446611","c.2442A>C(E8)","p.814,P>P","rs5997435",0.52,0.54,0.51,0.56,0.41,0.55,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNRF3",0.85,36,"同义",13203,"0.40=2/5",null,84133,"22q12.1","NM_001206998.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17184",44,26,0.59,{"$nulls":3},"A有","12309A","ZNRF4","chr19:5456450","c.948T>C(E1)","p.316,Y>Y","rs8111108",0.7,0.87,0.84,0.89,0.86,0.86,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZNRF4",1,23,"同义",13203,"0.59=39/66",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"]
["12309A(99)v28545",10,10,1,{"$nulls":3},"A有","12309A","ZP1","chr11:60635091","c.57T>C(E1)","p.19,V>V","rs550479",0.96,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,1,4,1,"ZP1",1,69,"同义",13203,"1.00=12/12",null,22917,"11q12.2","NM_207341.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28544",83,83,1,{"$nulls":3},"A有","12309A","ZP1","chr11:60637164","c.473C>T(E3)","p.158,T>I","rs489172",0.69,0.37,0.35,0.38,0.41,0.39,"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",1,69,"错义",12210,"1.00=127/127",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"]
["12309A(99)v28543",82,37,0.45,{"$nulls":3},"A有","12309A","ZP1","chr11:60638461","c.858C>T(E5)","p.286,F>F","rs10897122",0.31,0.66,0.69,0.64,0.61,0.65,"杂合","无关","有rs号，MAF>=5%",null,"卵母细胞成熟缺陷","AR",615774,5,3,4,1,"ZP1",1,69,"同义",13203,"0.41=58/142",null,22917,"11q12.2","NM_207341.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v28542",77,77,1,{"$nulls":3},"A有","12309A","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",1,69,"同义",13203,"1.00=134/134",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"]
["12309A(99)v11992",113,61,0.54,{"$nulls":3},"A有","12309A","ZP2","chr16:21213575","c.1137G>A(E11)","p.379,D>D","rs182866863",0.0006,0.0048,0.0095,0,0.013,0.0049,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZP2",1,200,"同义",13103,"0.54=104/192",null,7783,"16p12","NM_003460.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11991",119,54,0.45,{"$nulls":3},"A有","12309A","ZP2","chr16:21215672","c.747A>G(E8)","p.249,P>P","rs2075526",0.32,0.41,0.43,0.39,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",19855393,{"$nulls":3},5,null,2,0,"ZP2",1,200,"同义",13203,"0.50=94/187",null,7783,"16p12","NM_003460.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21970",8,5,0.62,{"$nulls":3},"A有","12309A","ZP3","chr7:76054372","c.91G>A(E1)","p.31,G>R","rs2286428",0.12,0.087,0.076,0.097,0.074,0.086,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZP3",1,170,"错义",12220,"0.50=5/10",null,7784,"7q11.23","NM_001110354.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21971",265,96,0.36,{"$nulls":3},"A有","12309A","ZP3","chr7:76069629","c.894G>A(E6)","p.298,K>K","rs73363163",{"$nulls":4},0.14,0.065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZP3",1,170,"同义",13303,"0.33=159/476",null,7784,"7q11.23","NM_001110354.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21969",130,129,0.99,{"$nulls":3},"A有","12309A","ZP3","chr7:76069811","c.943T>C(E7)","p.315,S>P","rs2906999",0.59,0.57,0.54,0.61,0.59,0.59,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZP3",1,170,"错义",12220,"0.99=192/193",null,7784,"7q11.23","NM_001110354.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v15856",83,83,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ZPBP",0.92,340,"剪切位点",16202,"1.00=130/130",null,11055,"7p14.3","NM_001159878.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4618",65,25,0.38,{"$nulls":3},"A有","12309A","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",{"$nulls":4},4,null,1,0,"ZPBP2",1,240,"同义",13103,"0.39=47/121",null,124626,"17q12","NM_199321.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21852",161,86,0.53,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ZRANB2",1,300,"剪切位点",16202,"0.55=129/236",null,9406,"1p31","NM_005455.4","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4454",69,36,0.52,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"同义",13203,"0.53=53/100",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4456",104,51,0.49,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"错义",12220,"0.52=84/163",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4453",98,43,0.44,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"同义",13203,"0.42=64/154",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4455",111,51,0.46,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"错义",12220,"0.44=87/197",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v4457",50,28,0.56,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,5,0,"ZRANB3",1,240,"错义",12220,"0.60=54/90",null,84083,"2q21.3","NM_032143.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12948",152,151,0.99,{"$nulls":3},"A有","12309A","ZRSR2","chrX:15838366","c.864C>T(E10)","p.288,N>N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,140,"同义",13303,"0.99=303/305",null,8233,"Xp22.1","NM_005089.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21861",4,4,1,{"$nulls":3},"A有","12309A","ZSCAN1","chr19:58565431","m.1486C>T(E6)","非编码区","rs8104122",0.26,0.29,0.27,0.32,null,0.33,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN1",0.95,24,"非编码区",14200,"1.00=4/4",null,284312,"19q13.43","NM_182572.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1419",107,54,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ZSCAN12",1,130,"错义",12210,"0.48=87/181",null,9753,"6p21","NM_001163391.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1418",111,56,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ZSCAN12",1,130,"错义",12220,"0.48=86/181",null,9753,"6p21","NM_001163391.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1416",79,79,1,{"$nulls":3},"A有","12309A","ZSCAN12","chr6:28359170","c.897A>G(E4)","p.299,D>D","rs2859348",0.64,0.58,0.58,0.59,0.62,0.58,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN12",1,130,"同义",13203,"1.00=123/123",null,9753,"6p21","NM_001163391.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v1417",89,48,0.54,{"$nulls":3},"A有","12309A","ZSCAN12","chr6:28359186","c.881C>T(E4)","p.294,R>K","rs2232430",0.11,0.26,0.32,0.19,0.27,0.2,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,4,0,"ZSCAN12",1,130,"错义",12220,"0.61=83/137",null,9753,"6p21","NM_001163391.1","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6524",122,122,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,98,"错义",12220,"1.00=213/213",null,54993,"15q25.2","NM_017894.5","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v6523",84,84,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ZSCAN2",1,98,"错义",12220,"1.00=126/126",null,54993,"15q25.2","NM_181877.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3681",45,45,1,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,3,0,"ZSCAN20",1,110,"错义",12230,"1.00=64/64",null,7579,"1p34.3","NM_145238.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3682",147,67,0.46,{"$nulls":3},"A有","12309A","ZSCAN20","chr1:33960062","c.2118A>G(E8)","p.706,A>A","rs9943259",0.75,0.75,0.76,0.75,0.79,0.74,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN20",1,110,"同义",13203,"0.46=112/244",null,7579,"1p34.3","NM_145238.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3680",33,10,0.3,{"$nulls":3},"A有","12309A","ZSCAN20","chr1:33961147","m.3370T>G(E8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN20",1,110,"非编码区",14200,"0.30=14/46",null,7579,"1p34.3","NM_145238.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18562",29,19,0.66,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ZSCAN21",1,120,"非编码区",14200,"0.61=25/41",null,7589,"7q22.1","NM_145914.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v18561",37,19,0.51,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,2,0,"ZSCAN21",1,120,"同义",13203,"0.46=23/50",null,7589,"7q22.1","NM_145914.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v11359",9,4,0.44,{"$nulls":3},"A有","12309A","ZSCAN23","chr6:28401790","m.1803A>G(E4)","非编码区","rs16894108",0.38,0.25,0.2,0.3,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSCAN23",1,110,"非编码区",14200,"0.44=4/9",null,222696,"6p22.1","NM_001012455.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20279",82,35,0.43,{"$nulls":3},"A有","12309A","ZSCAN30","chr18:32834095","c.804T>C(E4)","p.268,T>T","rs2289037",0.072,0.23,0.25,0.21,0.21,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN30",1,120,"同义",13203,"0.35=44/126",null,100101467,"18q12.2","NM_001112734.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v20278",58,26,0.45,{"$nulls":3},"A有","12309A","ZSCAN30","chr18:32834186","c.713T>G(E4)","p.238,Q>P","rs2249769",0.11,0.23,0.25,0.21,0.21,0.24,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZSCAN30",1,120,"错义",12220,"0.43=36/83",null,100101467,"18q12.2","NM_001112734.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2355",105,51,0.49,{"$nulls":3},"A有","12309A","ZSCAN5B","chr19:56702323","c.622C>T(E3)","p.208,V>I","rs4801296",0.48,0.41,0.45,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"错义",12220,"0.52=104/201",null,342933,"19q13.43","NM_001080456.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2354",73,40,0.55,{"$nulls":3},"A有","12309A","ZSCAN5B","chr19:56704260","c.162C>T(E1)","p.54,E>E","rs61742908",0.084,0.28,0.28,0.28,0.25,0.26,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"同义",13203,"0.58=66/114",null,342933,"19q13.43","NM_001080456.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v2353",38,19,0.5,{"$nulls":3},"A有","12309A","ZSCAN5B","chr19:56704399","c.23G>A(E1)","p.8,S>L","rs61745809",0.083,0.27,0.28,0.26,0.25,0.25,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"错义",12210,"0.41=24/59",null,342933,"19q13.43","NM_001080456.2","位于基因组多拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v14408",149,63,0.42,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,1,0,"ZSWIM2",1,240,"同义",13203,"0.46=109/238",null,151112,"2q32.1","NM_182521.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3634",65,23,0.35,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,69,"同义",13203,"0.37=41/110",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3632",40,20,0.5,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,69,"错义",12220,"0.48=33/69",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3633",23,10,0.43,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,69,"同义",13203,"0.46=13/28",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v3631",33,16,0.48,{"$nulls":3},"A有","12309A","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%",{"$nulls":4},5,null,4,0,"ZSWIM3",1,69,"非编码区",14200,"0.51=22/43",null,140831,"20q13.12","NM_080752.3","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v17963",34,16,0.47,{"$nulls":3},"A有","12309A","ZSWIM4","chr19:13910539","c.159G>A(E2)","p.53,E>E","rs28480458",0.09,0.022,0.014,0.029,0.047,0.032,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM4",0.83,18,"同义",13203,"0.49=25/51",null,65249,"19p13.13","NM_023072.2","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v7110",2,2,1,{"$nulls":3},"A有","12309A","ZSWIM5","chr1:45671966","c.57A>G(E1)","p.19,A>A","rs4454584",0.28,0.12,0.15,0.092,0.11,0.21,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM5",0.98,98,"同义",13203,"1.00=2/2",null,57643,"1p34.1","NM_020883.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v21538",83,39,0.47,{"$nulls":3},"A有","12309A","ZSWIM6","chr5:60839907","c.3411C>A(E14)","p.1137,P>P","rs16892374",0.075,0.13,0.14,0.13,0.14,0.13,"杂合","无关","有rs号，MAF>=5%",null,"肢端额鼻骨发育不良","AD",603671,5,1,1,1,"ZSWIM6",0.81,150,"同义",13203,"0.43=60/139",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"]
["12309A(99)v15051",14,7,0.5,{"$nulls":3},"A有","12309A","ZSWIM7","chr17:15881151","m.731C>G(E5)","非编码区","rs11654",0.54,0.25,0.25,0.24,null,null,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZSWIM7",1,220,"非编码区",14200,"0.50=8/16",null,125150,"17p12","NM_001042697.1","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["12309A(99)v12009",150,75,0.5,{"$nulls":3},"A有","12309A","ZUFSP","chr6:116966901","c.1665A>C(E9)","p.555,G>G","rs374689423",0.0004,0,0,0,null,0.00081,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZUFSP",1,280,"同义",13103,"0.50=115/232",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"]
["12309A(99)v12008",207,100,0.48,{"$nulls":3},"A有","12309A","ZUFSP","chr6:116973182","c.1135T>C(E6)","p.379,N>D","rs4946188",0.41,0.26,0.24,0.29,0.29,0.33,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,2,0,"ZUFSP",1,280,"错义",12220,"0.44=162/365",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"]
["12309A(99)v28505",153,76,0.5,{"$nulls":3},"A有","12309A","ZWILCH","chr15:66832466","c.1605A>G(E17)","p.535,I>M","rs75532475",0.079,0.024,0.029,0.019,0.039,0.047,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZWILCH",1,290,"错义",12220,"0.51=142/278",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"]
["12309A(99)v25586",81,81,1,{"$nulls":3},"A有","12309A","ZWINT","chr10:58118630","c.559T>C(E6)","p.187,R>G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"纯合","无关","有rs号，MAF>=5%",16385451,{"$nulls":3},5,null,1,0,"ZWINT",1,91,"错义",12210,"1.00=139/139",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"]
["12309A(99)v15576",90,89,0.99,{"$nulls":3},"A有","12309A","ZXDB","chrX:57619648","c.1167G>T(E1)","p.389,P>P","rs1057328",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZXDB",0.9,65,"同义",13303,"0.99=185/187",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"]
["12309A(99)v25599",24,24,1,{"$nulls":3},"A有","12309A","ZXDC","chr3:126181071","IVS5-8A>C","剪切位点","rs6775965",0.22,0.34,0.34,0.33,null,0.38,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZXDC",0.81,63,"剪切位点",16202,"1.00=37/37",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"]
["12309A(99)v29934",76,74,0.97,{"$nulls":3},"A有","12309A","ZYG11B","chr1:53250650","c.1194G>A(E5)","p.398,G>G","rs6588443",0.71,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,1,0,"ZYG11B",0.99,200,"同义",13203,"0.98=124/126",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"]
["12309A(99)v24529",77,36,0.47,{"$nulls":3},"A有","12309A","ZZEF1","chr17:3916823","c.8499G>A(E52)","p.2833,G>G","rs8075562",0.2,0.07,0.062,0.078,0.085,0.076,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"同义",13203,"0.43=50/116",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"]
["12309A(99)v24534",73,38,0.52,{"$nulls":3},"A有","12309A","ZZEF1","chr17:3926110","c.7105C>G(E44)","p.2369,E>Q","rs711177",0.14,0.07,0.062,0.078,0.087,0.078,"杂合","无关","有rs号，MAF>=5%",{"$nulls":4},5,null,10,0,"ZZEF1",0.96,140,"错义",12220,"0.54=64/119",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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