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{"sheet":"32630xbycn1A","index":0,"n_rows":42806,"n_cols":41,"rows_kept":2250,"cut":true,"bounds":{"rows_first":1000,"rows_last":250,"rows_between":1000,"halvings":1}}
["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)","HGMD数据库注释","Clinvar数据库注释","OMIM数据库注释","SWISS数据库注释"]
["32630A(747)v1",25,25,1,"32630A","A1BG","chr19:58858232-58858232","c.*156(exon8)delG","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"A1BG",1,39,"非编码区",2420,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786"]
["32630A(747)v2",59,59,1,"32630A","A1BG","chr19:58864479","c.155A>G(exon3)","p.H52R","rs893184",0.85,0.92,0.94,0.89,0.91,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23690342,{"$nulls":3},5,null,3,0,"A1BG",1,39,"非同义",12220,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786"]
["32630A(747)v3",65,30,0.4615,"32630A","A1BG","chr19:58864497","c.137C>T(exon3)","p.T46M","rs201279119",0.0002,0,0,0,0.00054,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,3,0,"A1BG",1,39,"非同义",12110,"0.4493=31/69","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786"]
["32630A(747)v4",156,70,0.4487,"32630A","A2ML1","chr12:8975901","c.186C>T(exon2)","p.T62T","rs17792974",null,0.21,0.23,0.19,0.22,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"同义",13303,"0.4396=80/182","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v5",82,42,0.5122,"32630A","A2ML1","chr12:8995966","c.1476+9G>A(exon12)","非编码区","rs7136813",null,0.1,0.081,0.12,0.12,0.12,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"非编码区",16303,"0.4848=48/99","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v6",97,97,1,"32630A","A2ML1","chr12:9004512","c.2367G>A(exon19)","p.P789P","rs1860927",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"同义",13303,"1.0000=112/112","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v7",95,95,1,"32630A","A2ML1","chr12:9004892","c.2550C>A(exon20)","p.D850E","rs1860926",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"A2ML1",1,130,"非同义",12330,"1.0000=101/101","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v8",36,20,0.5556,"32630A","A2ML1","chr12:9010671","c.3237G>A(exon26)","p.V1079V","rs11612600",null,0.14,0.13,0.14,0.18,0.17,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"同义",13303,"0.5714=24/42","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v9",212,96,0.4528,"32630A","A2ML1","chr12:9013755","c.3364C>T(exon28)","p.R1122W","rs1860967",null,0.83,0.83,0.83,0.79,0.78,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"A2ML1",1,130,"非同义",12320,"0.4661=117/251","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v10",51,51,1,"32630A","A2ML1","chr12:9016573","c.3686A>G(exon29)","p.H1229R","rs10219561",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"A2ML1",1,130,"非同义",12330,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v11",73,73,1,"32630A","A2ML1","chr12:9020489","c.3769A>G(exon30)","p.M1257V","rs7308811",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"A2ML1",1,130,"非同义",12320,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v12",80,35,0.4375,"32630A","A2ML1","chr12:9020912","c.4020A>G(exon31)","p.Q1340Q","rs1476910",null,0.48,0.48,0.48,0.47,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"同义",13303,"0.4421=42/95","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32630A(747)v13",132,47,0.3561,"32630A","A2M","chr12:9232268","c.2998A>G(exon24)","p.I1000V","rs669",null,0.089,0.081,0.097,0.076,0.093,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","9811940;18191876;21122033;23186781;23238918","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,5,2,"A2M",1,190,"非同义",12320,"0.3709=56/151","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014","rs669|\"Alzheimer_disease_association_with\"|9811940","ILE1000VAL|Benign;risk factor|NA|OMIM:103950.0001|no assertion criteria provided|PubMed:9811940"]
["32630A(747)v13",132,47,0.3561,"32630A","A2M","chr12:9232268","c.2998A>G(exon24)","p.I1000V","rs669",null,0.089,0.081,0.097,0.076,0.093,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","9811940;18191876;21122033;23186781;23238918","α2-巨球蛋白缺乏症","AD",614036,3,1,5,2,"A2M",1,190,"非同义",12320,"0.3709=56/151","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014","rs669|\"Alzheimer_disease_association_with\"|9811940","ILE1000VAL|Benign;risk factor|NA|OMIM:103950.0001|no assertion criteria provided|PubMed:9811940"]
["32630A(747)v14",103,103,1,"32630A","A2M","chr12:9248233","c.1915A>G(exon16)","p.N639D","rs226405",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,5,2,"A2M",1,190,"非同义",12330,"1.0000=112/112","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32630A(747)v14",103,103,1,"32630A","A2M","chr12:9248233","c.1915A>G(exon16)","p.N639D","rs226405",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,5,2,"A2M",1,190,"非同义",12330,"1.0000=112/112","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32630A(747)v15",180,101,0.5611,"32630A","A2M","chr12:9258821","c.1104+11T>C(exon10)","非编码区","rs12427063",null,0.36,0.35,0.37,0.36,0.35,"杂合","未知","内含子突变可能影响调控",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,4,1,5,2,"A2M",1,190,"非编码区",16303,"0.5640=119/211","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32630A(747)v15",180,101,0.5611,"32630A","A2M","chr12:9258821","c.1104+11T>C(exon10)","非编码区","rs12427063",null,0.36,0.35,0.37,0.36,0.35,"杂合","未知","内含子突变可能影响调控",null,"α2-巨球蛋白缺乏症","AD",614036,4,1,5,2,"A2M",1,190,"非编码区",16303,"0.5640=119/211","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32630A(747)v16",115,54,0.4696,"32630A","A2M","chr12:9268473","c.-28T>G(exon1)","非编码区","rs226380",null,0.12,0.11,0.13,0.12,0.13,"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",104300,3,1,5,2,"A2M",1,190,"非编码区",14300,"0.4779=65/136","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32630A(747)v16",115,54,0.4696,"32630A","A2M","chr12:9268473","c.-28T>G(exon1)","非编码区","rs226380",null,0.12,0.11,0.13,0.12,0.13,"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",614036,3,1,5,2,"A2M",1,190,"非编码区",14300,"0.4779=65/136","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32630A(747)v17",67,31,0.4627,"32630A","A2M","chr12:9268549","c.-104G>A(exon1)","非编码区","rs16918022",null,0.012,0.019,0.0049,0.0095,null,"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",104300,3,1,5,2,"A2M",1,190,"非编码区",14300,"0.4430=35/79","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32630A(747)v17",67,31,0.4627,"32630A","A2M","chr12:9268549","c.-104G>A(exon1)","非编码区","rs16918022",null,0.012,0.019,0.0049,0.0095,null,"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",614036,3,1,5,2,"A2M",1,190,"非编码区",14300,"0.4430=35/79","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32630A(747)v18",34,12,0.3529,"32630A","A4GALT","chr22:43089858","c.100G>A(exon3)","p.V34I","rs186054814",0.0062,0.036,0.033,0.039,0.038,0.044,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",23225054,"血型, P 系统",null,111400,3,2,1,1,"A4GALT",1,41,"非同义",12120,"0.3784=14/37","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436","VAL34ILE|\"Pk_synthase_deficiency_(p_phenotype)\"|23225054"]
["32630A(747)v19",25,25,1,"32630A","A4GNT","chr3:137843018","c.*88C>G(exon3)","非编码区","rs1564496",null,0.69,0.68,0.71,0.7,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A4GNT",1,110,"非编码区",14300,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161"]
["32630A(747)v20",69,69,1,"32630A","A4GNT","chr3:137843106","c.1023A>G(exon3)","p.X341X","rs2170309",0.65,0.69,0.68,0.71,0.69,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"1.0000=77/77","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161"]
["32630A(747)v21",120,120,1,"32630A","A4GNT","chr3:137843476","c.653C>A(exon3)","p.A218D","rs2246945",0.65,0.69,0.68,0.71,0.69,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"非同义",12220,"1.0000=143/143","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161"]
["32630A(747)v22",87,35,0.4023,"32630A","A4GNT","chr3:137850003","c.96T>C(exon2)","p.C32C","rs2724691",0.61,0.6,0.6,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"0.4130=38/92","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161"]
["32630A(747)v23",73,73,1,"32630A","AAAS","chr12:53703021","c.855C>T(exon9)","p.F285F","rs1546808",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,97,"同义",13203,"1.0000=81/81","位于基因组单拷贝区域+DNA结构正常",8086,"12q13","NM_015665",null,"rs1546808|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v24",59,59,1,"32630A","AAAS","chr12:53714496","c.124-20T>C(exon2)","非编码区","rs4759231",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,97,"非编码区",16202,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",8086,"12q13","NM_015665"]
["32630A(747)v25",5,4,0.8,"32630A","AACS","chr12:125549956","c.-175C>T(exon1)","非编码区","rs41474647",0.15,0.21,0.17,0.26,0.27,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AACS",1,97,"非编码区",14200,"0.8000=4/5","位于基因组单拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928"]
["32630A(747)v26",103,53,0.5146,"32630A","AACS","chr12:125561151","c.352A>G(exon3)","p.I118V","rs11549081",0.22,0.11,0.081,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AACS",1,97,"非同义",12220,"0.5000=55/110","位于基因组单拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928"]
["32630A(747)v27",135,50,0.3704,"32630A","AADACL2","chr3:151463421","c.556G>T(exon4)","p.A186S","rs1972977",0.71,0.62,0.68,0.57,0.62,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AADACL2",1,190,"非同义",12220,"0.3831=59/154","位于基因组单拷贝区域+DNA结构正常",344752,"3q25.1","NM_207365"]
["32630A(747)v28",30,15,0.5,"32630A","AADACL3","chr1:12776218","c.-133A>C(exon1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,0.72,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非编码区",14200,"0.5294=18/34","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32630A(747)v29",132,65,0.4924,"32630A","AADACL3","chr1:12779560","c.81T>C(exon2)","p.D27D","rs3010876",0.85,0.79,0.8,0.79,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"同义",13203,"0.4899=73/149","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32630A(747)v30",141,73,0.5177,"32630A","AADACL3","chr1:12779618","c.139T>C(exon2)","p.S47P","rs3010877",0.85,0.8,0.8,0.79,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非同义",12220,"0.5093=82/161","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32630A(747)v31",148,77,0.5203,"32630A","AADACL3","chr1:12785494","c.584G>T(exon4)","p.C195F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非同义",12210,"0.5128=80/156","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32630A(747)v32",4,2,0.5,"32630A","AADACL3","chr1:12786070","c.*107A>G(exon4)","非编码区","rs3000930",0.76,0.79,0.8,0.78,0.84,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非编码区",14200,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32630A(747)v33",3,3,1,"32630A","AADACL3","chr1:12788406","c.*2443G>A(exon4)","非编码区","rs3000929",0.83,0.79,0.8,0.79,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32630A(747)v34",181,181,1,"32630A","AADAT","chr4:170987636","c.963-7T>C(exon10)","非编码区","rs1480544",0.74,1,1,1,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AADAT",1,220,"非编码区",16202,"1.0000=211/211","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228"]
["32630A(747)v35",166,166,1,"32630A","AADAT","chr4:170991812-170991815","c.655-12(exon6)_c.655-9(exon6)delAACC","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"AADAT",1,220,"非编码区",2500,"1.0000=194/194","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228"]
["32630A(747)v36",2,2,1,"32630A","AAGAB","chr15:67494823","c.*336C>G(exon10)","非编码区","rs10518716",0.26,0.47,0.4,0.53,0.67,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,180,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666"]
["32630A(747)v37",11,7,0.6364,"32630A","AAGAB","chr15:67494922","c.*237A>G(exon10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,0.45,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,180,"非编码区",14200,"0.6667=8/12","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666"]
["32630A(747)v38",164,71,0.4329,"32630A","AAGAB","chr15:67528374","c.394A>C(exon4)","p.I132L","rs7173826",0.36,0.63,0.63,0.64,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,180,"非同义",12220,"0.4660=89/191","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666"]
["32630A(747)v39",36,20,0.5556,"32630A","AAK1","chr2:69741609","c.1770G>A(exon13)","p.E590E","rs2276689",0.32,0.52,0.53,0.51,0.51,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AAK1",1,140,"同义",13203,"0.5676=21/37","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32630A(747)v40",46,46,1,"32630A","AAK1","chr2:69741754-69741756","c.1623(exon13)_c.1625(exon13)delACA","p.Q541_Q542delinsQ","rs3832159",0.36,0.52,0.54,0.51,0.042,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AAK1",1,140,"非移码",2222,"1.0000=48/48","位于基因组单拷贝区域+简单重复结构",22848,"2p14","NM_014911"]
["32630A(747)v41",55,55,1,"32630A","AAK1","chr2:69741854","c.1525A>C(exon13)","p.K509Q","rs6715776",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AAK1",1,140,"非同义",12230,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32630A(747)v42",82,42,0.5122,"32630A","AAK1","chr2:69746142","c.1441G>C(exon12)","p.A481P","rs76509206",0.042,0.0024,0.0048,0,0.018,0.0062,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"AAK1",1,140,"非同义",12120,"0.5269=49/93","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32630A(747)v43",4,2,0.5,"32630A","AAK1","chr2:69870301","c.-129G>T(exon2)","非编码区","rs1396793",0.23,0.4,0.37,0.43,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AAK1",1,140,"非编码区",14200,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32630A(747)v44",21,21,1,"32630A","AAMP","chr2:219129060","c.*196T>C(exon11)","非编码区","rs2382816",0.96,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AAMP",1,64,"非编码区",14200,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",14,"2q35","NM_001087"]
["32630A(747)v45",155,75,0.4839,"32630A","AARD","chr8:117954810","c.338T>C(exon2)","p.F113S","rs114091176",0.013,0.07,0.062,0.078,0.081,0.075,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"AARD",1,79,"非同义",12110,"0.4946=91/184","位于基因组单拷贝区域+DNA结构正常",441376,"8q24.11","NM_001025357"]
["32630A(747)v46",2,2,1,"32630A","AARS2","chr6:44266648-44266649","c.*1635(exon22)_c.*1636(exon22)insAA","非编码区","rs5875874",0.87,1,1,1,0.33,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,8,2,"AARS2",1,73,"非编码区",2420,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v46",2,2,1,"32630A","AARS2","chr6:44266648-44266649","c.*1635(exon22)_c.*1636(exon22)insAA","非编码区","rs5875874",0.87,1,1,1,0.33,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,8,2,"AARS2",1,73,"非编码区",2420,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v47",5,5,1,"32630A","AARS2","chr6:44268135","c.*149G>A(exon22)","非编码区","rs325009",0.88,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,8,2,"AARS2",1,73,"非编码区",14200,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v47",5,5,1,"32630A","AARS2","chr6:44268135","c.*149G>A(exon22)","非编码区","rs325009",0.88,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,8,2,"AARS2",1,73,"非编码区",14200,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v48",49,49,1,"32630A","AARS2","chr6:44268371","c.2871A>G(exon22)","p.S957S","rs325008",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变","CLINVAR数据库","联合氧化磷酸化缺陷8型","AR",614096,4,1,8,2,"AARS2",1,73,"同义",13303,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745",null,"rs325008|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v48",49,49,1,"32630A","AARS2","chr6:44268371","c.2871A>G(exon22)","p.S957S","rs325008",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变","CLINVAR数据库","进行性脑白质病伴卵巢早衰","AR",615889,4,1,8,2,"AARS2",1,73,"同义",13303,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745",null,"rs325008|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v49",63,63,1,"32630A","AARS2","chr6:44269023","c.2683-20A>G(exon21)","非编码区","rs325007",0.87,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,8,2,"AARS2",1,73,"非编码区",16202,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v49",63,63,1,"32630A","AARS2","chr6:44269023","c.2683-20A>G(exon21)","非编码区","rs325007",0.87,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,8,2,"AARS2",1,73,"非编码区",16202,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v50",52,24,0.4615,"32630A","AARS2","chr6:44272284","c.1753-14C>G(exon13)","非编码区","rs74950428",0.056,0.13,0.13,0.14,0.14,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,8,2,"AARS2",1,73,"非编码区",16201,"0.4909=27/55","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v50",52,24,0.4615,"32630A","AARS2","chr6:44272284","c.1753-14C>G(exon13)","非编码区","rs74950428",0.056,0.13,0.13,0.14,0.14,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,8,2,"AARS2",1,73,"非编码区",16201,"0.4909=27/55","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v51",80,38,0.475,"32630A","AARS2","chr6:44274142-44274144","c.1189-16(exon9)_c.1189-14(exon9)delTCT","非编码区","rs144914586",0.042,0.13,0.13,0.13,0.11,0.17,"杂合","未知","内含子突变",null,"联合氧化磷酸化缺陷8型","AR",614096,4,3,8,2,"AARS2",1,73,"非编码区",2500,"0.4828=42/87","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v51",80,38,0.475,"32630A","AARS2","chr6:44274142-44274144","c.1189-16(exon9)_c.1189-14(exon9)delTCT","非编码区","rs144914586",0.042,0.13,0.13,0.13,0.11,0.17,"杂合","未知","内含子突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,4,3,8,2,"AARS2",1,73,"非编码区",2500,"0.4828=42/87","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v52",55,55,1,"32630A","AARS2","chr6:44275011","c.1015A>G(exon6)","p.I339V","rs324136",0.89,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","联合氧化磷酸化缺陷8型","AR",614096,5,1,8,2,"AARS2",1,73,"非同义",12230,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745",null,"VAL339ILE|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v52",55,55,1,"32630A","AARS2","chr6:44275011","c.1015A>G(exon6)","p.I339V","rs324136",0.89,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","进行性脑白质病伴卵巢早衰","AR",615889,5,1,8,2,"AARS2",1,73,"非同义",12230,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745",null,"VAL339ILE|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v53",50,19,0.38,"32630A","AARS2","chr6:44279111","c.581+16T>C(exon3)","非编码区","rs9688508",0.26,0.16,0.16,0.17,0.18,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,8,2,"AARS2",1,73,"非编码区",16203,"0.3750=21/56","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v53",50,19,0.38,"32630A","AARS2","chr6:44279111","c.581+16T>C(exon3)","非编码区","rs9688508",0.26,0.16,0.16,0.17,0.18,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,8,2,"AARS2",1,73,"非编码区",16203,"0.3750=21/56","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32630A(747)v54",76,76,1,"32630A","AARSD1","chr17:41116234","c.60C>T(exon2)","p.S20S","rs690941",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AARSD1",1,56,"同义",13203,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",80755,"17q21.31","NM_001261434"]
["32630A(747)v55",53,26,0.4906,"32630A","AARS","chr16:70287177","c.2715T>C(exon20)","p.V905V","rs4081753",0.88,0.96,0.97,0.95,0.95,0.97,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,99,"同义",13203,"0.4912=28/57","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605"]
["32630A(747)v56",63,35,0.5556,"32630A","AARS","chr16:70303580","c.903C>T(exon7)","p.H301H","rs2070203",0.43,0.37,0.4,0.33,0.4,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",10393914,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,99,"同义",13203,"0.5758=38/66","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605","rs2070203|\"Altered_mRNA_folding\"|10393914"]
["32630A(747)v57",14,6,0.4286,"32630A","AASDH","chr4:57204476-57204477","c.*91(exon15)_c.*92(exon15)insAGAA","非编码区","rs35451510",0.28,0.082,0.071,0.092,0.032,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,160,"非编码区",2420,"0.3529=6/17","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32630A(747)v58",75,30,0.4,"32630A","AASDH","chr4:57204777","c.3088T>G(exon15)","p.Y1030D","rs8340",0.23,0.19,0.17,0.2,0.18,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,160,"非同义",12220,"0.4000=34/85","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32630A(747)v59",159,85,0.5346,"32630A","AASDH","chr4:57211352","c.2593A>G(exon12)","p.T865A","rs12498340",0.22,0.19,0.17,0.2,0.18,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,160,"非同义",12220,"0.5108=95/186","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32630A(747)v60",112,56,0.5,"32630A","AASDH","chr4:57215677","c.2240C>T(exon11)","p.A747V","rs3796544",0.28,0.082,0.071,0.092,0.081,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,160,"非同义",12220,"0.5303=70/132","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32630A(747)v61",139,139,1,"32630A","AASDH","chr4:57219592","c.1554C>T(exon9)","p.D518D","rs6554348",0.65,0.54,0.53,0.55,0.48,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,160,"同义",13203,"1.0000=163/163","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32630A(747)v62",146,69,0.4726,"32630A","AASDH","chr4:57219613","c.1533G>A(exon9)","p.P511P","rs17086696",0.23,0.19,0.17,0.21,0.18,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,160,"同义",13203,"0.4702=79/168","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32630A(747)v63",159,89,0.5597,"32630A","AASDH","chr4:57237683","c.795C>T(exon5)","p.S265S","rs6554354",0.28,0.082,0.071,0.092,0.08,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,160,"同义",13203,"0.5556=105/189","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32630A(747)v64",20,20,1,"32630A","AATF","chr17:35306312","c.-114G>C(exon1)","非编码区","rs2306658",0.27,0.16,0.14,0.17,0.18,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23251661,{"$nulls":3},5,null,3,0,"AATF",1,190,"非编码区",14200,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",26574,"17q12","NM_012138"]
["32630A(747)v65",70,40,0.5714,"32630A","AATF","chr17:35346641","c.1245T>C(exon7)","p.S415S","rs1045056",0.16,0.017,0.0048,0.029,0.036,0.039,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AATF",1,190,"同义",13203,"0.6173=50/81","位于基因组单拷贝区域+DNA结构正常",26574,"17q12","NM_012138"]
["32630A(747)v66",204,111,0.5441,"32630A","AATF","chr17:35378217","c.1467-16C>A(exon10)","非编码区","rs2301686",0.13,0.14,0.13,0.15,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AATF",1,190,"非编码区",16201,"0.5673=139/245","位于基因组单拷贝区域+DNA结构正常",26574,"17q12","NM_012138"]
["32630A(747)v67",46,19,0.413,"32630A","AATK","chr17:79093822","c.3797T>C(exon12)","p.F1266S","rs36000545",0.36,0.53,0.54,0.52,0.5,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AATK",1,32,"非同义",12210,"0.4082=20/49","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395"]
["32630A(747)v68",35,35,1,"32630A","AATK","chr17:79095144","c.2592C>T(exon11)","p.A864A","rs8073904",0.81,0.86,0.87,0.85,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AATK",1,32,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395"]
["32630A(747)v69",13,8,0.6154,"32630A","AATK","chr17:79095629","c.2107G>T(exon11)","p.G703C","rs7503604",0.56,0.67,0.71,0.62,0.66,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AATK",1,32,"非同义",12220,"0.6250=10/16","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395"]
["32630A(747)v70",90,47,0.5222,"32630A","ABAT","chr16:8839954","c.167A>G(exon3)","p.Q56R","rs1731017",0.5,0.6,0.57,0.63,0.56,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",15830322,"GABA转氨酶缺乏症","AR",613163,5,3,7,1,"ABAT",1,110,"非同义",12220,"0.5158=49/95","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32630A(747)v71",221,110,0.4977,"32630A","ABAT","chr16:8841960","c.169-5T>C(exon4)","非编码区","rs1641010",0.47,0.59,0.57,0.62,0.56,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"GABA转氨酶缺乏症","AR",613163,5,3,7,1,"ABAT",1,110,"非编码区",16202,"0.4786=123/257","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32630A(747)v72",103,53,0.5146,"32630A","ABAT","chr16:8844389","c.309C>T(exon5)","p.V103V","rs2229157",0.1,0.2,0.2,0.19,0.21,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"GABA转氨酶缺乏症","AR",613163,5,3,7,1,"ABAT",1,110,"同义",13203,"0.4833=58/120","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32630A(747)v73",43,43,1,"32630A","ABAT","chr16:8858580","c.448-15T>A(exon8)","非编码区","rs2302608",0.83,0.86,0.86,0.86,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"GABA转氨酶缺乏症","AR",613163,5,1,7,1,"ABAT",1,110,"非编码区",16202,"1.0000=51/51","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32630A(747)v74",61,33,0.541,"32630A","ABAT","chr16:8868776","c.984C>A(exon13)","p.V328V","rs1641022",0.32,0.44,0.42,0.47,0.44,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"GABA转氨酶缺乏症","AR",613163,5,3,7,1,"ABAT",1,110,"同义",13203,"0.5342=39/73","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32630A(747)v75",4,2,0.5,"32630A","ABAT","chr16:8875529","c.*242G>T(exon16)","非编码区","rs2270288",0.37,0.44,0.41,0.46,0.42,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"GABA转氨酶缺乏症","AR",613163,5,3,7,1,"ABAT",1,110,"非编码区",14200,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32630A(747)v76",4,2,0.5,"32630A","ABAT","chr16:8875531","c.*244C>A(exon16)","非编码区","rs2270289",0.18,0.23,0.25,0.21,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"GABA转氨酶缺乏症","AR",613163,5,3,7,1,"ABAT",1,110,"非编码区",14200,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32630A(747)v77",9,2,0.2222,"32630A","ABCA10","chr17:67144684","c.*284A>T(exon40)","非编码区","rs1974577",0.71,0.47,0.51,0.44,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非编码区",14200,"0.2500=3/12","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32630A(747)v78",182,86,0.4725,"32630A","ABCA10","chr17:67144884","c.*84C>A(exon40)","非编码区","rs1974578",0.49,0.32,0.38,0.27,0.31,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非编码区",14200,"0.4505=100/222","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32630A(747)v79",147,67,0.4558,"32630A","ABCA10","chr17:67170736","c.3048+12T>C(exon25)","非编码区","rs740520",0.71,0.47,0.51,0.44,0.45,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非编码区",16203,"0.4540=79/174","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32630A(747)v80",171,85,0.4971,"32630A","ABCA10","chr17:67178316","c.2747T>C(exon23)","p.M916T","rs4968849",0.71,0.47,0.51,0.44,0.45,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非同义",12220,"0.5200=104/200","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32630A(747)v81",97,43,0.4433,"32630A","ABCA10","chr17:67178954","c.2498-5G>A(exon22)","非编码区","rs4968851",0.69,0.47,0.51,0.44,0.44,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非编码区",16202,"0.4327=45/104","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32630A(747)v82",81,81,1,"32630A","ABCA12","chr2:215851246","c.4163+20T>C(exon28)","非编码区","rs7559069",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",242500,5,1,4,2,"ABCA12",1,210,"非编码区",16203,"1.0000=92/92","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32630A(747)v82",81,81,1,"32630A","ABCA12","chr2:215851246","c.4163+20T>C(exon28)","非编码区","rs7559069",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",601277,5,1,4,2,"ABCA12",1,210,"非编码区",16203,"1.0000=92/92","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32630A(747)v83",129,46,0.3566,"32630A","ABCA12","chr2:215865575","c.3033A>G(exon22)","p.P1011P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,210,"同义",13203,"0.3577=49/137","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32630A(747)v83",129,46,0.3566,"32630A","ABCA12","chr2:215865575","c.3033A>G(exon22)","p.P1011P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,210,"同义",13203,"0.3577=49/137","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32630A(747)v84",79,79,1,"32630A","ABCA12","chr2:215876166","c.2329T>A(exon17)","p.S777T","rs7560008",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",242500,5,1,4,2,"ABCA12",1,210,"非同义",12220,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32630A(747)v84",79,79,1,"32630A","ABCA12","chr2:215876166","c.2329T>A(exon17)","p.S777T","rs7560008",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",601277,5,1,4,2,"ABCA12",1,210,"非同义",12220,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32630A(747)v85",293,146,0.4983,"32630A","ABCA12","chr2:215901774","c.888G>A(exon8)","p.V296V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,210,"同义",13203,"0.4985=171/343","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32630A(747)v85",293,146,0.4983,"32630A","ABCA12","chr2:215901774","c.888G>A(exon8)","p.V296V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,210,"同义",13203,"0.4985=171/343","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32630A(747)v86",76,32,0.4211,"32630A","ABCA13","chr7:48280454","c.1063-10G>A(exon10)","非编码区","rs62449168",0.12,0.2,0.15,0.25,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非编码区",16202,"0.4444=36/81","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v87",120,55,0.4583,"32630A","ABCA13","chr7:48285485","c.1517C>T(exon13)","p.P506L","rs1880738",0.41,0.58,0.64,0.52,0.54,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"0.4855=67/138","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v88",97,50,0.5155,"32630A","ABCA13","chr7:48287840","c.1664G>A(exon14)","p.R555H","rs2361519",0.2,0.19,0.14,0.25,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"0.5225=58/111","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v89",128,59,0.4609,"32630A","ABCA13","chr7:48311485","c.2222A>C(exon17)","p.E741A","rs117022697",0.013,0.091,0.067,0.12,0.099,0.087,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,22,0,"ABCA13",1,140,"非同义",12110,"0.4315=63/146","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v90",103,52,0.5049,"32630A","ABCA13","chr7:48311563","c.2300T>G(exon17)","p.I767S","rs17712293",0.19,0.25,0.19,0.31,0.24,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12210,"0.4790=57/119","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v91",133,61,0.4586,"32630A","ABCA13","chr7:48312674","c.3411G>A(exon17)","p.V1137V","rs1358066",0.58,0.74,0.8,0.67,0.74,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"同义",13203,"0.4503=68/151","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v92",64,40,0.625,"32630A","ABCA13","chr7:48313949","c.4686C>T(exon17)","p.Y1562Y","rs6583483",0.13,0.2,0.14,0.25,0.2,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"同义",13203,"0.6111=44/72","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v93",123,58,0.4715,"32630A","ABCA13","chr7:48314279","c.5016G>A(exon17)","p.K1672K","rs6955212",0.19,0.25,0.19,0.31,0.24,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"同义",13203,"0.4851=65/134","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v94",95,95,1,"32630A","ABCA13","chr7:48315796","c.6533C>A(exon17)","p.A2178E","rs1880736",0.81,0.99,1,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v95",79,78,0.9873,"32630A","ABCA13","chr7:48318811","c.8020C>T(exon18)","p.R2674W","rs2222648",0.85,0.99,1,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"0.9888=88/89","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v96",204,204,1,"32630A","ABCA13","chr7:48336844","c.9135C>T(exon22)","p.L3045L","rs6583546",0.77,0.99,1,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"同义",13203,"1.0000=249/249","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v97",84,50,0.5952,"32630A","ABCA13","chr7:48349647","c.9425C>T(exon24)","p.A3142V","rs3931814",0.11,0.1,0.086,0.12,0.11,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"0.5960=59/99","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v98",125,53,0.424,"32630A","ABCA13","chr7:48428715","c.11552A>T(exon37)","p.Y3851F","rs17132289",0.086,0.12,0.13,0.11,0.11,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12210,"0.4604=64/139","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v99",55,19,0.3455,"32630A","ABCA13","chr7:48450097","c.12071-20C>T(exon40)","非编码区","rs62447267",0.17,0.26,0.25,0.27,0.28,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非编码区",16202,"0.3387=21/62","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v100",56,56,1,"32630A","ABCA13","chr7:48450157","c.12111T>C(exon40)","p.A4037A","rs17548783",0.46,0.64,0.59,0.69,0.64,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"同义",13203,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v101",37,18,0.4865,"32630A","ABCA13","chr7:48450289","c.12228+15C>G(exon40)","非编码区","rs62447268",0.17,0.25,0.23,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非编码区",16203,"0.5366=22/41","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v102",64,28,0.4375,"32630A","ABCA13","chr7:48451939","c.12229-11T>C(exon41)","非编码区","rs1865195",0.17,0.25,0.23,0.27,0.27,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非编码区",16202,"0.4857=34/70","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v103",40,17,0.425,"32630A","ABCA13","chr7:48452200","c.12459+20G>A(exon41)","非编码区","rs7789493",0.17,0.25,0.23,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非编码区",16203,"0.4419=19/43","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v104",102,44,0.4314,"32630A","ABCA13","chr7:48506566","c.12829A>G(exon44)","p.N4277D","rs4917152",0.23,0.22,0.18,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"0.4579=49/107","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v105",106,49,0.4623,"32630A","ABCA13","chr7:48506642","c.12905A>G(exon44)","p.Q4302R","rs4917153",0.23,0.22,0.18,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"0.4914=57/116","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v106",140,140,1,"32630A","ABCA13","chr7:48545976","c.13336A>G(exon49)","p.K4446E","rs6583448",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"1.0000=158/158","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v107",190,84,0.4421,"32630A","ABCA13","chr7:48682996","c.14943+7C>G(exon60)","非编码区","rs28610321",0.17,0.26,0.24,0.28,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非编码区",16203,"0.4661=103/221","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32630A(747)v108",107,107,1,"32630A","ABCA1","chr9:107562804","c.4760A>G(exon35)","p.K1587R","rs2230808",0.54,0.56,0.53,0.6,0.64,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15520867;12600718;17324514;17430597;17510949","家族性高胆固醇血症","AD",143890,5,1,6,3,"ABCA1",1,140,"非同义",12220,"1.0000=120/120","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","rs2230808|\"Altered_HDL_cholesterol_levels\"|15520867"]
["32630A(747)v108",107,107,1,"32630A","ABCA1","chr9:107562804","c.4760A>G(exon35)","p.K1587R","rs2230808",0.54,0.56,0.53,0.6,0.64,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15520867;12600718;17324514;17430597;17510949","丹吉尔病","AR",205400,5,1,6,3,"ABCA1",1,140,"非同义",12220,"1.0000=120/120","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","rs2230808|\"Altered_HDL_cholesterol_levels\"|15520867"]
["32630A(747)v108",107,107,1,"32630A","ABCA1","chr9:107562804","c.4760A>G(exon35)","p.K1587R","rs2230808",0.54,0.56,0.53,0.6,0.64,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15520867;12600718;17324514;17430597;17510949","原发性α低脂蛋白血症",null,604091,5,1,6,3,"ABCA1",1,140,"非同义",12220,"1.0000=120/120","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","rs2230808|\"Altered_HDL_cholesterol_levels\"|15520867"]
["32630A(747)v109",56,55,0.9821,"32630A","ABCA1","chr9:107568705","c.4281G>A(exon31)","p.T1427T","rs2066716",0.13,0.28,0.26,0.3,0.31,0.29,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性高胆固醇血症","AD",143890,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.9841=62/63","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v109",56,55,0.9821,"32630A","ABCA1","chr9:107568705","c.4281G>A(exon31)","p.T1427T","rs2066716",0.13,0.28,0.26,0.3,0.31,0.29,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"丹吉尔病","AR",205400,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.9841=62/63","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v109",56,55,0.9821,"32630A","ABCA1","chr9:107568705","c.4281G>A(exon31)","p.T1427T","rs2066716",0.13,0.28,0.26,0.3,0.31,0.29,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"原发性α低脂蛋白血症",null,604091,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.9841=62/63","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v110",125,124,0.992,"32630A","ABCA1","chr9:107586753","c.2649A>G(exon18)","p.I883M","rs2066714",0.36,0.74,0.74,0.74,0.73,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","10431237;17430597;17855807;19041386;19406964","家族性高胆固醇血症","AD",143890,5,1,6,3,"ABCA1",1,140,"非同义",12220,"0.9930=141/142","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ILE883MET|\"Tangier_disease\"|10431237"]
["32630A(747)v110",125,124,0.992,"32630A","ABCA1","chr9:107586753","c.2649A>G(exon18)","p.I883M","rs2066714",0.36,0.74,0.74,0.74,0.73,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","10431237;17430597;17855807;19041386;19406964","丹吉尔病","AR",205400,5,1,6,3,"ABCA1",1,140,"非同义",12220,"0.9930=141/142","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ILE883MET|\"Tangier_disease\"|10431237"]
["32630A(747)v110",125,124,0.992,"32630A","ABCA1","chr9:107586753","c.2649A>G(exon18)","p.I883M","rs2066714",0.36,0.74,0.74,0.74,0.73,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","10431237;17430597;17855807;19041386;19406964","原发性α低脂蛋白血症",null,604091,5,1,6,3,"ABCA1",1,140,"非同义",12220,"0.9930=141/142","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ILE883MET|\"Tangier_disease\"|10431237"]
["32630A(747)v111",115,113,0.9826,"32630A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性高胆固醇血症","AD",143890,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.9781=134/137","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v111",115,113,0.9826,"32630A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"丹吉尔病","AR",205400,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.9781=134/137","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v111",115,113,0.9826,"32630A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"原发性α低脂蛋白血症",null,604091,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.9781=134/137","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v112",108,108,1,"32630A","ABCA1","chr9:107620867","c.656G>A(exon7)","p.R219K","rs2230806",0.44,0.44,0.42,0.47,0.46,0.45,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16372134;11238261;12600718;16725228;17324514","家族性高胆固醇血症","AD",143890,5,1,6,3,"ABCA1",1,140,"非同义",11200,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ARG219LYS|\"Increased_plasma_HDL_cholesterol\"|11238261","ARG219LYS|protective|NA|OMIM:600046.0024|no assertion criteria provided|PubMed:16372134","ARG219LYS|143890|600046.0024.1"]
["32630A(747)v112",108,108,1,"32630A","ABCA1","chr9:107620867","c.656G>A(exon7)","p.R219K","rs2230806",0.44,0.44,0.42,0.47,0.46,0.45,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16372134;11238261;12600718;16725228;17324514","丹吉尔病","AR",205400,5,1,6,3,"ABCA1",1,140,"非同义",11200,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ARG219LYS|\"Increased_plasma_HDL_cholesterol\"|11238261","ARG219LYS|protective|NA|OMIM:600046.0024|no assertion criteria provided|PubMed:16372134","ARG219LYS|143890|600046.0024.1"]
["32630A(747)v112",108,108,1,"32630A","ABCA1","chr9:107620867","c.656G>A(exon7)","p.R219K","rs2230806",0.44,0.44,0.42,0.47,0.46,0.45,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16372134;11238261;12600718;16725228;17324514","原发性α低脂蛋白血症",null,604091,5,1,6,3,"ABCA1",1,140,"非同义",11200,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ARG219LYS|\"Increased_plasma_HDL_cholesterol\"|11238261","ARG219LYS|protective|NA|OMIM:600046.0024|no assertion criteria provided|PubMed:16372134","ARG219LYS|143890|600046.0024.1"]
["32630A(747)v113",116,59,0.5086,"32630A","ABCA1","chr9:107624029","c.474G>A(exon6)","p.L158L","rs2230805",0.37,0.41,0.4,0.43,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17553166;19606474;20167577","家族性高胆固醇血症","AD",143890,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.5040=63/125","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v113",116,59,0.5086,"32630A","ABCA1","chr9:107624029","c.474G>A(exon6)","p.L158L","rs2230805",0.37,0.41,0.4,0.43,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17553166;19606474;20167577","丹吉尔病","AR",205400,5,3,6,3,"ABCA1",1,140,"同义",13203,"0.5040=63/125","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v113",116,59,0.5086,"32630A","ABCA1","chr9:107624029","c.474G>A(exon6)","p.L158L","rs2230805",0.37,0.41,0.4,0.43,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17553166;19606474;20167577","原发性α低脂蛋白血症",null,604091,5,2,6,3,"ABCA1",1,140,"同义",13203,"0.5040=63/125","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32630A(747)v114",10,5,0.5,"32630A","ABCA2","chr9:139902166","c.*215C>T(exon49)","非编码区","rs41306732",0.26,0.17,0.17,0.16,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCA2",1,44,"非编码区",14200,"0.5000=5/10","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32630A(747)v115",13,13,1,"32630A","ABCA2","chr9:139902214","c.*167T>C(exon49)","非编码区","rs10870161",0.93,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCA2",1,44,"非编码区",14200,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32630A(747)v116",89,33,0.3708,"32630A","ABCA2","chr9:139904037","c.6690T>C(exon44)","p.L2230L","rs7048567",0.72,0.83,0.83,0.84,0.82,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCA2",1,44,"同义",13203,"0.3854=37/96","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32630A(747)v117",43,19,0.4419,"32630A","ABCA2","chr9:139906359","c.5472C>T(exon35)","p.H1824H","rs2271862",0.69,0.83,0.82,0.84,0.82,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCA2",1,44,"同义",13203,"0.4468=21/47","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32630A(747)v118",34,34,1,"32630A","ABCA2","chr9:139908265","c.4447+19A>G(exon28)","非编码区","rs10781531",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCA2",1,44,"非编码区",16203,"1.0000=34/34","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32630A(747)v119",61,61,1,"32630A","ABCA2","chr9:139912484","c.2037T>C(exon15)","p.D679D","rs908832",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15649702;16752360",{"$nulls":3},5,null,9,0,"ABCA2",1,44,"同义",13203,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32630A(747)v120",32,32,1,"32630A","ABCA2","chr9:139913239","c.1751A>C(exon13)","p.H584P","rs908828",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCA2",1,44,"非同义",12230,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32630A(747)v121",16,16,1,"32630A","ABCA2","chr9:139916471-139916472","c.568-19(exon7)_c.568-18(exon7)insCACCCCCATCTGAGCCA","非编码区","rs142576618",0.91,0.91,0.9,0.92,0.022,0.98,"纯合","未知","内含子突变",{"$nulls":4},4,null,9,0,"ABCA2",1,44,"非编码区",2500,"1.0000=20/20","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32630A(747)v122",40,40,1,"32630A","ABCA2","chr9:139923265","c.60T>C(exon1)","p.A20A","rs4880189",0.77,0.79,0.75,0.82,0.77,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCA2",1,44,"同义",13203,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_212533"]
["32630A(747)v123",90,90,1,"32630A","ABCA3","chr16:2331430","c.4116T>C(exon27)","p.S1372S","rs149532",0.9,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;18317237","肺泡蛋白沉着症3型","AR",610921,5,1,3,1,"ABCA3",1,73,"同义",13203,"1.0000=100/100","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089",null,"rs149532|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v124",47,47,1,"32630A","ABCA3","chr16:2367336","c.1059C>T(exon10)","p.F353F","rs13332514",0.19,0.38,0.39,0.37,0.36,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;18246475;18317237","肺泡蛋白沉着症3型","AR",610921,5,1,3,1,"ABCA3",1,73,"同义",13203,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089",null,"rs13332514|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v125",48,48,1,"32630A","ABCA3","chr16:2367424","c.991-20C>T(exon10)","非编码区","rs13332547",0.2,0.38,0.39,0.37,0.36,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18317237,"肺泡蛋白沉着症3型","AR",610921,5,1,3,1,"ABCA3",1,73,"非编码区",16202,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089"]
["32630A(747)v126",186,89,0.4785,"32630A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"同义",13203,"0.4955=111/224","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1762114|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v126",186,89,0.4785,"32630A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斯特格病变1型","AR",248200,5,3,6,5,"ABCA4",1,120,"同义",13203,"0.4955=111/224","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1762114|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v126",186,89,0.4785,"32630A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性19型-AR",null,601718,5,2,6,5,"ABCA4",1,120,"同义",13203,"0.4955=111/224","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1762114|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v126",186,89,0.4785,"32630A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视锥-视杆细胞营养不良3型",null,604116,5,2,6,5,"ABCA4",1,120,"同义",13203,"0.4955=111/224","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1762114|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v126",186,89,0.4785,"32630A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,3,6,5,"ABCA4",1,120,"同义",13203,"0.4955=111/224","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1762114|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v127",66,66,1,"32630A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"纯合","未知","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,4,1,6,5,"ABCA4",1,120,"非编码区",2500,"1.0000=80/80","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32630A(747)v127",66,66,1,"32630A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"纯合","未知","内含子突变",null,"斯特格病变1型","AR",248200,4,1,6,5,"ABCA4",1,120,"非编码区",2500,"1.0000=80/80","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32630A(747)v127",66,66,1,"32630A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"纯合","未知","内含子突变",null,"视网膜色素变性19型-AR",null,601718,4,1,6,5,"ABCA4",1,120,"非编码区",2500,"1.0000=80/80","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32630A(747)v127",66,66,1,"32630A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"纯合","未知","内含子突变",null,"视锥-视杆细胞营养不良3型",null,604116,4,1,6,5,"ABCA4",1,120,"非编码区",2500,"1.0000=80/80","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32630A(747)v127",66,66,1,"32630A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"纯合","未知","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,4,1,6,5,"ABCA4",1,120,"非编码区",2500,"1.0000=80/80","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32630A(747)v128",135,67,0.4963,"32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v128",135,67,0.4963,"32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斯特格病变1型","AR",248200,5,3,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v128",135,67,0.4963,"32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性19型-AR",null,601718,5,2,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v128",135,67,0.4963,"32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视锥-视杆细胞营养不良3型",null,604116,5,2,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v128",135,67,0.4963,"32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,3,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v129",128,128,1,"32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v129",128,128,1,"32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斯特格病变1型","AR",248200,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v129",128,128,1,"32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性19型-AR",null,601718,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v129",128,128,1,"32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视锥-视杆细胞营养不良3型",null,604116,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v129",128,128,1,"32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v130",65,29,0.4462,"32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]"]
["32630A(747)v130",65,29,0.4462,"32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"斯特格病变1型","AR",248200,5,3,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]"]
["32630A(747)v130",65,29,0.4462,"32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"视网膜色素变性19型-AR",null,601718,5,2,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]"]
["32630A(747)v130",65,29,0.4462,"32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"视锥-视杆细胞营养不良3型",null,604116,5,2,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]"]
["32630A(747)v130",65,29,0.4462,"32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"青少年型视网膜色素变性-AR","AR",613341,5,3,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]"]
["32630A(747)v131",101,101,1,"32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v131",101,101,1,"32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"斯特格病变1型","AR",248200,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v131",101,101,1,"32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"视网膜色素变性19型-AR",null,601718,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v131",101,101,1,"32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"视锥-视杆细胞营养不良3型",null,604116,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v131",101,101,1,"32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"青少年型视网膜色素变性-AR","AR",613341,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v132",258,130,0.5039,"32630A","ABCA5","chr17:67260926","c.3265T>C(exon23)","p.L1089L","rs12449649",0.38,0.39,0.42,0.35,0.36,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCA5",1,220,"同义",13203,"0.5136=151/294","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672"]
["32630A(747)v133",109,46,0.422,"32630A","ABCA5","chr17:67267317","c.2878A>G(exon20)","p.M960V","rs557491",0.5,0.62,0.59,0.65,0.65,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCA5",1,220,"非同义",12220,"0.4344=53/122","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672"]
["32630A(747)v134",145,145,1,"32630A","ABCA5","chr17:67273882","c.2494G>T(exon18)","p.A832S","rs536009",0.8,0.95,0.95,0.96,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24957074,{"$nulls":3},5,null,4,0,"ABCA5",1,220,"非同义",12220,"1.0000=157/157","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672"]
["32630A(747)v135",240,103,0.4292,"32630A","ABCA5","chr17:67305488","c.384T>C(exon3)","p.G128G","rs184289333",0.0022,0.0072,0.0095,0.0049,0.012,0.014,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ABCA5",1,220,"同义",13103,"0.4276=124/290","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672"]
["32630A(747)v136",217,117,0.5392,"32630A","ABCA6","chr17:67075072","c.*42C>T(exon39)","非编码区","rs2302290",0.61,0.27,0.32,0.21,0.24,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非编码区",14200,"0.5263=130/247","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32630A(747)v137",164,79,0.4817,"32630A","ABCA6","chr17:67081830","c.3965A>G(exon31)","p.N1322S","rs2302134",0.46,0.32,0.37,0.28,0.3,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非同义",12210,"0.4743=83/175","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32630A(747)v138",109,63,0.578,"32630A","ABCA6","chr17:67099129","c.2741-20T>C(exon21)","非编码区","rs2364315",0.43,0.27,0.32,0.21,0.24,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非编码区",16202,"0.5821=78/134","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32630A(747)v139",388,388,1,"32630A","ABCA6","chr17:67101718","c.2625G>A(exon20)","p.M875I","rs7212506",0.75,0.85,0.86,0.84,0.86,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17486107,{"$nulls":3},5,null,6,0,"ABCA6",1,230,"非同义",12220,"1.0000=487/487","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32630A(747)v140",106,46,0.434,"32630A","ABCA6","chr17:67109894","c.1783-16G>A(exon14)","非编码区","rs9282552",0.46,0.3,0.35,0.25,0.3,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非编码区",16202,"0.4173=53/127","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32630A(747)v141",281,136,0.484,"32630A","ABCA6","chr17:67125840","c.844G>A(exon7)","p.V282I","rs4968839",0.56,0.45,0.5,0.41,0.44,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非同义",12220,"0.4848=160/330","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32630A(747)v142",53,53,1,"32630A","ABCA7","chr19:1042809","c.563A>G(exon7)","p.E188G","rs3764645",0.4,0.51,0.51,0.51,0.48,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非同义",12210,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v143",50,49,0.98,"32630A","ABCA7","chr19:1044753","c.1215+10T>C(exon11)","非编码区","rs3764648",{"$nulls":4},0.69,0.69,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,20,0,"ABCA7",1,53,"非编码区",16303,"0.9811=52/53","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v144",19,7,0.3684,"32630A","ABCA7","chr19:1047002","c.1824A>G(exon14)","p.A608A","rs3752234",0.58,0.8,0.81,0.78,0.77,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.3500=7/20","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v145",21,21,1,"32630A","ABCA7","chr19:1047161","c.1851A>G(exon15)","p.G617G","rs3752237",0.7,0.84,0.84,0.83,0.82,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v146",80,80,1,"32630A","ABCA7","chr19:1049012","c.2380+8A>C(exon17)","非编码区","rs4147912",0.82,0.83,0.83,0.83,0.83,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非编码区",16203,"1.0000=92/92","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v147",48,32,0.6667,"32630A","ABCA7","chr19:1049305","c.2421C>A(exon18)","p.V807V","rs4147915",0.2,0.46,0.47,0.46,0.41,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.6364=35/55","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v148",47,17,0.3617,"32630A","ABCA7","chr19:1051214","c.2745A>G(exon20)","p.V915V","rs3752240",0.29,0.14,0.13,0.14,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.3137=16/51","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v149",57,30,0.5263,"32630A","ABCA7","chr19:1052005","c.3027C>T(exon22)","p.A1009A","rs3764652",0.38,0.39,0.39,0.39,0.37,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.4844=31/64","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v150",28,9,0.3214,"32630A","ABCA7","chr19:1053524","c.3417C>G(exon24)","p.L1139L","rs3752241",0.18,0.16,0.15,0.17,0.17,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.2941=10/34","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v151",50,16,0.32,"32630A","ABCA7","chr19:1054060","c.3528A>G(exon26)","p.L1176L","rs3752243",0.54,0.42,0.42,0.41,0.41,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.3091=17/55","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v152",26,14,0.5385,"32630A","ABCA7","chr19:1055191","c.4046G>A(exon30)","p.R1349Q","rs3745842",0.39,0.39,0.39,0.39,0.37,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非同义",12220,"0.5938=19/32","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v153",60,31,0.5167,"32630A","ABCA7","chr19:1056065","c.4239A>G(exon32)","p.R1413R","rs881768",0.44,0.39,0.4,0.39,0.38,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13202,"0.4853=33/68","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v154",48,48,1,"32630A","ABCA7","chr19:1056492","c.4580G>C(exon33)","p.G1527A","rs3752246",0.83,0.7,0.69,0.72,0.69,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21460841;23669301;24643655;25426068",{"$nulls":3},5,null,20,0,"ABCA7",1,53,"非同义",12220,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112","GLY1527ALA|\"Alzheimer_disease_late-onset_association_with\"|21460841"]
["32630A(747)v155",129,63,0.4884,"32630A","ABCA7","chr19:1059004","c.5401-18A>G(exon40)","非编码区","rs2279796",0.57,0.41,0.4,0.42,0.4,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非编码区",16202,"0.4861=70/144","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v156",39,17,0.4359,"32630A","ABCA7","chr19:1061804","c.5487T>C(exon41)","p.N1829N","rs78320196",0.06,0.022,0.014,0.029,0.037,0.03,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.4146=17/41","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v157",24,7,0.2917,"32630A","ABCA7","chr19:1064193","c.5985G>A(exon45)","p.L1995L","rs4147930",0.61,0.53,0.53,0.52,0.49,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.2593=7/27","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v158",13,10,0.7692,"32630A","ABCA7","chr19:1065018","c.6133G>T(exon46)","p.A2045S","rs4147934",0.61,0.52,0.52,0.52,0.49,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非同义",12220,"0.7692=10/13","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v159",17,14,0.8235,"32630A","ABCA7","chr19:1065044","c.6159C>T(exon46)","p.G2053G","rs4147935",{"$nulls":4},0.13,0.25,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,20,0,"ABCA7",1,53,"同义",13303,"0.8333=15/18","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v160",51,27,0.5294,"32630A","ABCA7","chr19:1065445","c.*21C>T(exon47)","非编码区","rs766421026",{"$nulls":5},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,20,0,"ABCA7",1,53,"非编码区",14300,"0.5094=27/53","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v161",6,5,0.8333,"32630A","ABCA7","chr19:1065563","c.*139G>C(exon47)","非编码区","rs2242437",0.6,0.53,0.53,0.53,0.5,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非编码区",14200,"0.8333=5/6","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32630A(747)v162",145,145,1,"32630A","ABCA8","chr17:66872802","c.4122C>G(exon32)","p.P1374P","rs1481",0.81,0.99,1,0.99,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCA8",1,220,"同义",13203,"1.0000=161/161","位于基因组多拷贝区域+DNA结构正常",10351,"17q24","NM_007168"]
["32630A(747)v163",192,79,0.4115,"32630A","ABCA8","chr17:66904001","c.2038T>G(exon16)","p.C680G","rs16973424",0.03,0.1,0.12,0.087,0.11,0.13,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"ABCA8",1,220,"非同义",12110,"0.3689=83/225","位于基因组单拷贝区域+DNA结构正常",10351,"17q24","NM_007168"]
["32630A(747)v164",193,193,1,"32630A","ABCA9","chr17:67031369","c.1128+18A>G(exon8)","非编码区","rs1860448",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCA9",1,200,"非编码区",16203,"1.0000=225/225","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32630A(747)v165",237,237,1,"32630A","ABCA9","chr17:67031457","c.1058G>A(exon8)","p.R353H","rs1860447",0.86,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCA9",1,200,"非同义",12220,"1.0000=283/283","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32630A(747)v166",190,85,0.4474,"32630A","ABCB10","chr1:229661711","c.1878G>T(exon10)","p.V626V",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ABCB10",1,120,"同义",13403,"0.4700=102/217","位于基因组单拷贝区域+DNA结构正常",23456,"1q42.13","NM_012089"]
["32630A(747)v167",119,119,1,"32630A","ABCB10","chr1:229663065-229663069","c.1646-14(exon9)_c.1646-10(exon9)delTTCCT","非编码区","rs397774139",1,1,1,1,0.11,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ABCB10",1,120,"非编码区",2500,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",23456,"1q42.13","NM_012089"]
["32630A(747)v168",6,3,0.5,"32630A","ABCB11","chr2:169779764","c.*368G>A(exon28)","非编码区","rs495714",0.51,0.64,0.62,0.66,0.83,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"非编码区",14200,"0.5000=3/6","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v168",6,3,0.5,"32630A","ABCB11","chr2:169779764","c.*368G>A(exon28)","非编码区","rs495714",0.51,0.64,0.62,0.66,0.83,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"非编码区",14200,"0.5000=3/6","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v169",7,7,1,"32630A","ABCB11","chr2:169779896","c.*236A>G(exon28)","非编码区","rs473351",null,0.94,0.93,0.96,0.91,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",601847,3,1,9,2,"ABCB11",1,160,"非编码区",14300,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v169",7,7,1,"32630A","ABCB11","chr2:169779896","c.*236A>G(exon28)","非编码区","rs473351",null,0.94,0.93,0.96,0.91,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",605479,3,1,9,2,"ABCB11",1,160,"非编码区",14300,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v170",77,44,0.5714,"32630A","ABCB11","chr2:169789016","c.3084A>G(exon24)","p.A1028A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19101985;24969679;25323205","进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.5977=52/87","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742","rs497692|\"Primary_biliary_cirrhosis_association_with\"|19101985"]
["32630A(747)v170",77,44,0.5714,"32630A","ABCB11","chr2:169789016","c.3084A>G(exon24)","p.A1028A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19101985;24969679;25323205","良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.5977=52/87","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742","rs497692|\"Primary_biliary_cirrhosis_association_with\"|19101985"]
["32630A(747)v171",108,108,1,"32630A","ABCB11","chr2:169801488","c.2344-17T>C(exon20)","非编码区","rs853789",0.86,0.99,0.98,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18521185,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,1,9,2,"ABCB11",1,160,"非编码区",16201,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v171",108,108,1,"32630A","ABCB11","chr2:169801488","c.2344-17T>C(exon20)","非编码区","rs853789",0.86,0.99,0.98,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18521185,"良性复发性肝内胆汁淤积2型","AR",605479,5,1,9,2,"ABCB11",1,160,"非编码区",16201,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v172",80,42,0.525,"32630A","ABCB11","chr2:169814655","c.2179-17C>A(exon19)","非编码区","rs853772",0.5,0.67,0.64,0.7,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"非编码区",16202,"0.5111=46/90","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v172",80,42,0.525,"32630A","ABCB11","chr2:169814655","c.2179-17C>A(exon19)","非编码区","rs853772",0.5,0.67,0.64,0.7,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"非编码区",16202,"0.5111=46/90","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v173",81,81,1,"32630A","ABCB11","chr2:169830328","c.1331T>C(exon13)","p.V444A","rs2287622",null,0.67,0.67,0.67,0.71,0.73,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","17264802;18176959;18987030;22522591;24914347","进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,9,2,"ABCB11",1,160,"非同义",12320,"1.0000=86/86","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742","VAL444ALA|\"Cholestasis_drug-induced_association_with\"|17264802","VAL444ALA|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v173",81,81,1,"32630A","ABCB11","chr2:169830328","c.1331T>C(exon13)","p.V444A","rs2287622",null,0.67,0.67,0.67,0.71,0.73,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","17264802;18176959;18987030;22522591;24914347","良性复发性肝内胆汁淤积2型","AR",605479,3,1,9,2,"ABCB11",1,160,"非同义",12320,"1.0000=86/86","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742","VAL444ALA|\"Cholestasis_drug-induced_association_with\"|17264802","VAL444ALA|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v174",54,20,0.3704,"32630A","ABCB11","chr2:169842809","c.909-15A>G(exon10)","非编码区","rs2287618",0.77,0.78,0.8,0.76,0.78,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"非编码区",16202,"0.3833=23/60","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v174",54,20,0.3704,"32630A","ABCB11","chr2:169842809","c.909-15A>G(exon10)","非编码区","rs2287618",0.77,0.78,0.8,0.76,0.78,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"非编码区",16202,"0.3833=23/60","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v175",132,67,0.5076,"32630A","ABCB11","chr2:169847412","c.807T>C(exon9)","p.Y269Y","rs2287616",0.065,0.31,0.27,0.35,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.5036=69/137","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v175",132,67,0.5076,"32630A","ABCB11","chr2:169847412","c.807T>C(exon9)","p.Y269Y","rs2287616",0.065,0.31,0.27,0.35,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.5036=69/137","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v176",173,71,0.4104,"32630A","ABCB11","chr2:169870855","c.108T>C(exon4)","p.D36D","rs3815675",0.063,0.3,0.26,0.34,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.4162=82/197","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v176",173,71,0.4104,"32630A","ABCB11","chr2:169870855","c.108T>C(exon4)","p.D36D","rs3815675",0.063,0.3,0.26,0.34,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.4162=82/197","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32630A(747)v177",77,77,1,"32630A","ABCB1","chr7:87138645","c.3435T>C(exon27)","p.I1145I","rs1045642",null,0.66,0.7,0.62,0.61,0.62,"纯合","未知","预测范围之外的同义突变","10716719;15197162;15805193;16999857;17146660","秋水仙碱抵抗",null,120080,4,1,4,2,"ABCB1",1,190,"同义",13303,"1.0000=92/92","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927","rs1045642|\"Lower_P-glycoprotein_level_association_with\"|10716719"]
["32630A(747)v177",77,77,1,"32630A","ABCB1","chr7:87138645","c.3435T>C(exon27)","p.I1145I","rs1045642",null,0.66,0.7,0.62,0.61,0.62,"纯合","未知","预测范围之外的同义突变","10716719;15197162;15805193;16999857;17146660","炎性肠病13型",null,612244,4,1,4,2,"ABCB1",1,190,"同义",13303,"1.0000=92/92","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927","rs1045642|\"Lower_P-glycoprotein_level_association_with\"|10716719"]
["32630A(747)v178",115,112,0.9739,"32630A","ABCB1","chr7:87160618","c.2677T>G(exon22)","p.S893A","rs2032582",null,0.48,0.53,0.44,0.43,0.47,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","14610718;15197162;16103896;16999857;17146660","秋水仙碱抵抗",null,120080,3,1,4,2,"ABCB1",1,190,"非同义",12320,"0.9313=122/131","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927","SER893ALA|\"Inflammatory_bowel_disease_association_with\"|14610718","SER893ALA|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v178",115,112,0.9739,"32630A","ABCB1","chr7:87160618","c.2677T>G(exon22)","p.S893A","rs2032582",null,0.48,0.53,0.44,0.43,0.47,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","14610718;15197162;16103896;16999857;17146660","炎性肠病13型",null,612244,3,1,4,2,"ABCB1",1,190,"非同义",12320,"0.9313=122/131","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927","SER893ALA|\"Inflammatory_bowel_disease_association_with\"|14610718","SER893ALA|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v179",204,93,0.4559,"32630A","ABCB1","chr7:87214970","c.144G>T(exon5)","p.K48N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0047,2.8E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,190,"非同义",12120,"0.4714=107/227","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927"]
["32630A(747)v179",204,93,0.4559,"32630A","ABCB1","chr7:87214970","c.144G>T(exon5)","p.K48N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0047,2.8E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"炎性肠病13型",null,612244,3,2,4,2,"ABCB1",1,190,"非同义",12120,"0.4714=107/227","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927"]
["32630A(747)v180",73,73,1,"32630A","ABCB1","chr7:87229501","c.-1A>G(exon3)","非编码区","rs2214102",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20625815,"秋水仙碱抵抗",null,120080,5,1,4,2,"ABCB1",1,190,"非编码区",14200,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927"]
["32630A(747)v180",73,73,1,"32630A","ABCB1","chr7:87229501","c.-1A>G(exon3)","非编码区","rs2214102",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20625815,"炎性肠病13型",null,612244,5,1,4,2,"ABCB1",1,190,"非编码区",14200,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927"]
["32630A(747)v181",101,101,1,"32630A","ABCB4","chr7:87032613","c.3508-16T>C(exon27)","非编码区","rs31653",0.88,0.72,0.72,0.71,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19408031,"I型胆囊疾病","AD,AR",600803,5,1,4,3,"ABCB4",1,190,"非编码区",16202,"1.0000=112/112","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32630A(747)v181",101,101,1,"32630A","ABCB4","chr7:87032613","c.3508-16T>C(exon27)","非编码区","rs31653",0.88,0.72,0.72,0.71,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19408031,"进行性家族性肝内胆汁瘀积3型","AR",602347,5,1,4,3,"ABCB4",1,190,"非编码区",16202,"1.0000=112/112","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32630A(747)v181",101,101,1,"32630A","ABCB4","chr7:87032613","c.3508-16T>C(exon27)","非编码区","rs31653",0.88,0.72,0.72,0.71,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19408031,"妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,4,3,"ABCB4",1,190,"非编码区",16202,"1.0000=112/112","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32630A(747)v182",83,83,1,"32630A","ABCB4","chr7:87053206","c.2211+16C>T(exon17)","非编码区","rs31668",0.87,0.71,0.71,0.71,0.69,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"I型胆囊疾病","AD,AR",600803,5,1,4,3,"ABCB4",1,190,"非编码区",16203,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32630A(747)v182",83,83,1,"32630A","ABCB4","chr7:87053206","c.2211+16C>T(exon17)","非编码区","rs31668",0.87,0.71,0.71,0.71,0.69,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性家族性肝内胆汁瘀积3型","AR",602347,5,1,4,3,"ABCB4",1,190,"非编码区",16203,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32630A(747)v182",83,83,1,"32630A","ABCB4","chr7:87053206","c.2211+16C>T(exon17)","非编码区","rs31668",0.87,0.71,0.71,0.71,0.69,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,4,3,"ABCB4",1,190,"非编码区",16203,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32630A(747)v183",112,55,0.4911,"32630A","ABCB4","chr7:87056176","c.1954A>G(exon16)","p.R652G","rs2230028",0.17,0.022,0.019,0.024,0.029,0.027,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17241866;24732756;24914347","I型胆囊疾病","AD,AR",600803,5,1,4,3,"ABCB4",1,190,"非同义",12220,"0.4803=61/127","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","ARG652GLY|\"Intrahepatic_cholestasis_familial_progressive\"|17241866"]
["32630A(747)v183",112,55,0.4911,"32630A","ABCB4","chr7:87056176","c.1954A>G(exon16)","p.R652G","rs2230028",0.17,0.022,0.019,0.024,0.029,0.027,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17241866;24732756;24914347","进行性家族性肝内胆汁瘀积3型","AR",602347,5,3,4,3,"ABCB4",1,190,"非同义",12220,"0.4803=61/127","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","ARG652GLY|\"Intrahepatic_cholestasis_familial_progressive\"|17241866"]
["32630A(747)v183",112,55,0.4911,"32630A","ABCB4","chr7:87056176","c.1954A>G(exon16)","p.R652G","rs2230028",0.17,0.022,0.019,0.024,0.029,0.027,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17241866;24732756;24914347","妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,4,3,"ABCB4",1,190,"非同义",12220,"0.4803=61/127","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","ARG652GLY|\"Intrahepatic_cholestasis_familial_progressive\"|17241866"]
["32630A(747)v184",66,36,0.5455,"32630A","ABCB4","chr7:87079406","c.711A>T(exon8)","p.I237I","rs2109505",0.26,0.26,0.28,0.24,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12746424;24366234;24914347;25593501","I型胆囊疾病","AD,AR",600803,5,1,4,3,"ABCB4",1,190,"同义",13202,"0.5753=42/73","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","rs2109505|\"Intrahepatic_cholestasis_of_pregnancy_association\"|12746424"]
["32630A(747)v184",66,36,0.5455,"32630A","ABCB4","chr7:87079406","c.711A>T(exon8)","p.I237I","rs2109505",0.26,0.26,0.28,0.24,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12746424;24366234;24914347;25593501","进行性家族性肝内胆汁瘀积3型","AR",602347,5,3,4,3,"ABCB4",1,190,"同义",13202,"0.5753=42/73","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","rs2109505|\"Intrahepatic_cholestasis_of_pregnancy_association\"|12746424"]
["32630A(747)v184",66,36,0.5455,"32630A","ABCB4","chr7:87079406","c.711A>T(exon8)","p.I237I","rs2109505",0.26,0.26,0.28,0.24,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12746424;24366234;24914347;25593501","妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,4,3,"ABCB4",1,190,"同义",13202,"0.5753=42/73","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","rs2109505|\"Intrahepatic_cholestasis_of_pregnancy_association\"|12746424"]
["32630A(747)v185",224,106,0.4732,"32630A","ABCB5","chr7:20666235","c.108+1G>C(exon3)","剪切位点","rs17143187",0.15,0.45,0.43,0.46,0.51,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23352160,{"$nulls":3},5,null,9,0,"ABCB5",1,190,"剪切位点",16204,"0.4884=126/258","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941","rs17143187|\"Autism_spectrum_disorder\"|23352160"]
["32630A(747)v186",71,37,0.5211,"32630A","ABCB5","chr7:20682884","c.392C>T(exon6)","p.T131I","rs17143212",0.07,0.11,0.13,0.083,0.082,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25647612;21298007",{"$nulls":3},5,null,9,0,"ABCB5",1,190,"非同义",12210,"0.5309=43/81","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941","THR131ILE|\"Haloperidol-induced_toxicity_association_with\"|25647612"]
["32630A(747)v187",215,114,0.5302,"32630A","ABCB5","chr7:20685484","c.784C>A(exon8)","p.Q262K","rs2074000",0.14,0.46,0.45,0.47,0.49,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21298007,{"$nulls":3},5,null,9,0,"ABCB5",1,190,"非同义",12210,"0.5382=134/249","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32630A(747)v188",17,17,1,"32630A","ABCB5","chr7:20706645","c.*255G>T(exon6)","非编码区","rs12535128",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCB5",1,190,"非编码区",14200,"1.0000=19/19","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163993"]
["32630A(747)v189",3,3,1,"32630A","ABCB5","chr7:20706751","c.*361T>C(exon6)","非编码区","rs12537843",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCB5",1,190,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163993"]
["32630A(747)v190",322,146,0.4534,"32630A","ABCB5","chr7:20762646","c.2429G>T(exon21)","p.G810V","rs62453384",0.23,0.21,0.24,0.18,0.2,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21298007,{"$nulls":3},5,null,9,0,"ABCB5",1,190,"非同义",12210,"0.4518=178/394","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32630A(747)v191",125,62,0.496,"32630A","ABCB5","chr7:20768013","c.2802G>A(exon23)","p.A934A","rs10254317",0.6,0.7,0.71,0.69,0.66,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCB5",1,190,"同义",13203,"0.5221=71/136","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32630A(747)v192",91,37,0.4066,"32630A","ABCB5","chr7:20778646","c.2908G>A(exon24)","p.E970K","rs6461515",0.76,0.85,0.84,0.86,0.84,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21298007,{"$nulls":3},5,null,9,0,"ABCB5",1,190,"非同义",12220,"0.3800=38/100","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32630A(747)v193",62,34,0.5484,"32630A","ABCB5","chr7:20778773","c.3024+11C>G(exon24)","非编码区","rs6461516",0.8,0.88,0.87,0.88,0.87,0.85,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ABCB5",1,190,"非编码区",16203,"0.5211=37/71","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32630A(747)v194",31,31,1,"32630A","ABCB6","chr2:220083279","c.117G>A(exon1)","p.L39L","rs1109866",0.74,0.84,0.83,0.84,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Langereis血型系统",null,111600,5,1,3,3,"ABCB6",1,87,"同义",13203,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v194",31,31,1,"32630A","ABCB6","chr2:220083279","c.117G>A(exon1)","p.L39L","rs1109866",0.74,0.84,0.83,0.84,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"孤立性小眼畸形伴眼缺损7型","AD",614497,5,1,3,3,"ABCB6",1,87,"同义",13203,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v194",31,31,1,"32630A","ABCB6","chr2:220083279","c.117G>A(exon1)","p.L39L","rs1109866",0.74,0.84,0.83,0.84,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"泛发性色素异常症3","AD",615402,5,1,3,3,"ABCB6",1,87,"同义",13203,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v195",7,7,1,"32630A","ABCB6","chr2:220083453","c.-58C>A(exon1)","非编码区","rs1109867",0.74,0.84,0.83,0.84,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17847007,"Langereis血型系统",null,111600,5,1,3,3,"ABCB6",1,87,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v195",7,7,1,"32630A","ABCB6","chr2:220083453","c.-58C>A(exon1)","非编码区","rs1109867",0.74,0.84,0.83,0.84,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17847007,"孤立性小眼畸形伴眼缺损7型","AD",614497,5,1,3,3,"ABCB6",1,87,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v195",7,7,1,"32630A","ABCB6","chr2:220083453","c.-58C>A(exon1)","非编码区","rs1109867",0.74,0.84,0.83,0.84,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17847007,"泛发性色素异常症3","AD",615402,5,1,3,3,"ABCB6",1,87,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v196",2,2,1,"32630A","ABCB6","chr2:220083655","c.-260G>A(exon1)","非编码区","rs4674369",0.97,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Langereis血型系统",null,111600,5,1,3,3,"ABCB6",1,87,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v196",2,2,1,"32630A","ABCB6","chr2:220083655","c.-260G>A(exon1)","非编码区","rs4674369",0.97,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"孤立性小眼畸形伴眼缺损7型","AD",614497,5,1,3,3,"ABCB6",1,87,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v196",2,2,1,"32630A","ABCB6","chr2:220083655","c.-260G>A(exon1)","非编码区","rs4674369",0.97,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"泛发性色素异常症3","AD",615402,5,1,3,3,"ABCB6",1,87,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32630A(747)v197",66,66,1,"32630A","ABCB7","chrX:74334687","c.169-18A>G(exon2)","非编码区","rs4148837",null,0.91,0.89,0.92,null,0.93,"半合子","未知","剪切位点预测结果为无害",null,"X连锁铁粒幼细胞贫血伴脊髓小脑共济失调","XR",301310,4,1,1,1,"ABCB7",1,120,"非编码区",16302,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",22,"Xq13.3","NM_004299"]
["32630A(747)v198",41,19,0.4634,"32630A","ABCB8","chr7:150731698","c.659+12C>T(exon4)","非编码区","rs2303924",0.13,0.24,0.22,0.25,0.26,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCB8",1,58,"非编码区",16203,"0.4681=22/47","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188"]
["32630A(747)v199",67,28,0.4179,"32630A","ABCB8","chr7:150733025","c.984T>A(exon7)","p.R328R","rs2303926",0.3,0.25,0.23,0.26,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCB8",1,58,"同义",13203,"0.4267=32/75","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188"]
["32630A(747)v200",2,2,1,"32630A","ABCB8","chr7:150742700","c.*264A>C(exon16)","非编码区","rs891506",0.72,0.73,0.74,0.72,0.64,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCB8",1,58,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188"]
["32630A(747)v201",48,48,1,"32630A","ABCC10","chr6:43399837","c.-11A>G(exon1)","非编码区","rs700008",0.88,0.95,0.95,0.95,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCC10",0.96,62,"非编码区",14200,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_033450"]
["32630A(747)v202",59,59,1,"32630A","ABCC10","chr6:43401105","c.1251+7G>A(exon1)","非编码区","rs9394952",0.36,0.6,0.59,0.61,0.66,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCC10",0.96,62,"非编码区",16203,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_033450"]
["32630A(747)v203",35,17,0.4857,"32630A","ABCC11","chr16:48201581","c.3892-10T>C(exon28)","非编码区",{"$nulls":7},"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",null,"顶浆分泌腺变异","AD",117800,2,1,3,1,"ABCC11",1,120,"非编码区",16401,"0.4474=17/38","位于基因组单拷贝区域+DNA结构正常",85320,"16q12.1","NM_033151"]
["32630A(747)v204",139,71,0.5108,"32630A","ABCC11","chr16:48234327","c.1942G>A(exon14)","p.V648I","rs16945930",0.072,0.36,0.36,0.35,0.35,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"顶浆分泌腺变异","AD",117800,5,1,3,1,"ABCC11",1,120,"非同义",12220,"0.5127=81/158","位于基因组多拷贝区域+DNA结构正常",85320,"16q12.1","NM_033151"]
["32630A(747)v205",74,74,1,"32630A","ABCC11","chr16:48258198","c.538G>A(exon4)","p.G180R","rs17822931",0.3,0.91,0.84,0.97,0.94,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19710689;16444273;16255080;17394018;18037328","顶浆分泌腺变异","AD",117800,5,1,3,1,"ABCC11",1,120,"非同义",11200,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",85320,"16q12.1","NM_033151","GLY180ARG|\"Earwax_type_association_with\"|16444273","GLY180ARG|Benign|OMIM:117800|OMIM:607040.0001|no assertion criteria provided|PubMed:19710689","GLY180ARG|117800|607040.0001.1"]
["32630A(747)v206",139,68,0.4892,"32630A","ABCC12","chr16:48122582","c.3349C>T(exon24)","p.R1117C","rs7193955",0.59,0.89,0.88,0.91,0.87,0.9,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCC12",1,130,"非同义",12210,"0.5065=78/154","位于基因组单拷贝区域+DNA结构正常",94160,"16q12.1","NM_033226"]
["32630A(747)v207",48,28,0.5833,"32630A","ABCC1","chr16:16110375","c.512G>C(exon5)","p.R171P",{"$nulls":5},1E-3,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,8,0,"ABCC1",1,85,"非同义",12410,"0.5686=29/51","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32630A(747)v208",72,42,0.5833,"32630A","ABCC1","chr16:16138322","c.825T>C(exon8)","p.V275V","rs246221",0.42,0.46,0.45,0.47,0.47,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16684361;23396606",{"$nulls":3},5,null,8,0,"ABCC1",1,85,"同义",13203,"0.5952=50/84","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32630A(747)v209",55,27,0.4909,"32630A","ABCC1","chr16:16139714","c.1062T>C(exon9)","p.N354N","rs35587",0.42,0.46,0.44,0.47,0.47,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16684361,{"$nulls":3},5,null,8,0,"ABCC1",1,85,"同义",13203,"0.4918=30/61","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32630A(747)v210",49,22,0.449,"32630A","ABCC1","chr16:16139878","c.1218+8A>G(exon9)","非编码区","rs35588",0.41,0.46,0.44,0.47,0.47,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16684361,{"$nulls":3},5,null,8,0,"ABCC1",1,85,"非编码区",16203,"0.4364=24/55","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32630A(747)v211",55,26,0.4727,"32630A","ABCC1","chr16:16162019","c.1684T>C(exon13)","p.L562L","rs35605",0.79,0.79,0.84,0.75,0.78,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16684361;24944790",{"$nulls":3},5,null,8,0,"ABCC1",1,85,"同义",13203,"0.4844=31/64","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32630A(747)v212",39,39,1,"32630A","ABCC1","chr16:16205449","c.3079+10G>A(exon22)","非编码区","rs3851716",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCC1",1,85,"非编码区",16203,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32630A(747)v213",23,6,0.2609,"32630A","ABCC1","chr16:16232202-16232202","c.4293-19(exon30)delT","非编码区","rs45587033",null,0.51,0.55,0.47,0.073,0.44,"杂合","未知","内含子突变",{"$nulls":4},4,null,8,0,"ABCC1",1,85,"非编码区",2500,"0.2400=6/25","位于基因组单拷贝区域+简单重复结构",4363,"16p13.1","NM_004996"]
["32630A(747)v214",44,23,0.5227,"32630A","ABCC1","chr16:16232433","c.4487+18G>A(exon30)","非编码区","rs212088",0.14,0.22,0.2,0.23,0.25,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCC1",1,85,"非编码区",16203,"0.5000=24/48","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32630A(747)v215",122,122,1,"32630A","ABCC2","chr10:101544447","c.116A>T(exon2)","p.Y39F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,1,1,"ABCC2",1,130,"非同义",12230,"1.0000=146/146","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392"]
["32630A(747)v216",106,106,1,"32630A","ABCC4","chr13:95673939","c.3871-3T>C(exon31)","非编码区","rs9524765",0.93,0.99,1,0.99,0.99,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"非编码区",16202,"1.0000=118/118","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32630A(747)v217",161,74,0.4596,"32630A","ABCC4","chr13:95714976","c.3348G>A(exon26)","p.K1116K","rs1751034",0.79,0.81,0.82,0.81,0.77,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;24944790;25426075",{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.4536=83/183","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32630A(747)v218",177,77,0.435,"32630A","ABCC4","chr13:95726541","c.2844T>C(exon23)","p.F948F","rs1189466",0.9,0.82,0.84,0.81,0.79,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.4141=82/198","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32630A(747)v219",110,59,0.5364,"32630A","ABCC4","chr13:95727780","c.2712A>G(exon22)","p.L904L","rs1678339",0.89,0.82,0.83,0.81,0.79,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.5152=68/132","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32630A(747)v220",64,32,0.5,"32630A","ABCC4","chr13:95858978","c.969A>G(exon8)","p.S323S","rs2274405",0.63,0.53,0.51,0.55,0.55,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18213362;18364470;25426075",{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.4853=33/68","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32630A(747)v221",57,28,0.4912,"32630A","ABCC4","chr13:95858996","c.951A>G(exon8)","p.R317R","rs2274406",0.52,0.53,0.5,0.55,0.55,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;25426075",{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.4833=29/60","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32630A(747)v222",91,45,0.4945,"32630A","ABCC4","chr13:95861804","c.669T>C(exon6)","p.I223I","rs899494",0.81,0.78,0.8,0.77,0.78,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;25426075",{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.5189=55/106","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32630A(747)v223",68,68,1,"32630A","ABCC5","chr3:183660585","c.3624C>T(exon25)","p.L1208L","rs3749442",0.25,0.44,0.47,0.41,0.42,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=80/80","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688"]
["32630A(747)v224",187,187,1,"32630A","ABCC5","chr3:183685534","c.1782T>C(exon12)","p.C594C","rs939336",0.69,0.85,0.87,0.82,0.84,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","14507663;24924344",{"$nulls":3},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=226/226","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688"]
["32630A(747)v225",140,140,1,"32630A","ABCC5","chr3:183696402","c.1185T>C(exon9)","p.A395A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24924344,{"$nulls":3},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688"]
["32630A(747)v226",36,23,0.6389,"32630A","ABCC6","chr16:16263663","c.2835C>T(exon22)","p.P945P","rs2856585",0.12,0.24,0.23,0.25,0.25,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,87,"同义",13203,"0.6410=25/39","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v226",36,23,0.6389,"32630A","ABCC6","chr16:16263663","c.2835C>T(exon22)","p.P945P","rs2856585",0.12,0.24,0.23,0.25,0.25,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤","AR",264800,5,3,5,3,"ABCC6",1,87,"同义",13203,"0.6410=25/39","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v226",36,23,0.6389,"32630A","ABCC6","chr16:16263663","c.2835C>T(exon22)","p.P945P","rs2856585",0.12,0.24,0.23,0.25,0.25,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,5,3,"ABCC6",1,87,"同义",13203,"0.6410=25/39","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v227",58,58,1,"32630A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,87,"非同义",12230,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v227",58,58,1,"32630A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,87,"非同义",12230,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v227",58,58,1,"32630A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,87,"非同义",12230,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v228",58,58,1,"32630A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,87,"同义",13203,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v228",58,58,1,"32630A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,87,"同义",13203,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v228",58,58,1,"32630A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,87,"同义",13203,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v229",45,45,1,"32630A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,87,"非编码区",16203,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v229",45,45,1,"32630A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,87,"非编码区",16203,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v229",45,45,1,"32630A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,87,"非编码区",16203,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v230",51,51,1,"32630A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"早期弹性纤维假黄瘤","AD",177850,4,1,5,3,"ABCC6",1,87,"非编码区",16303,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v230",51,51,1,"32630A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"弹性纤维假黄瘤","AR",264800,4,1,5,3,"ABCC6",1,87,"非编码区",16303,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v230",51,51,1,"32630A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"婴儿期广泛性动脉钙化2型","AR",614473,4,1,5,3,"ABCC6",1,87,"非编码区",16303,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32630A(747)v231",28,10,0.3571,"32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v231",28,10,0.3571,"32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v231",28,10,0.3571,"32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v231",28,10,0.3571,"32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v231",28,10,0.3571,"32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v232",68,36,0.5294,"32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v232",68,36,0.5294,"32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v232",68,36,0.5294,"32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v232",68,36,0.5294,"32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v232",68,36,0.5294,"32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v233",57,57,1,"32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v233",57,57,1,"32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v233",57,57,1,"32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v233",57,57,1,"32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v233",57,57,1,"32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿暂时性糖尿病2型",null,610374,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v234",39,17,0.4359,"32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v234",39,17,0.4359,"32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v234",39,17,0.4359,"32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v234",39,17,0.4359,"32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v234",39,17,0.4359,"32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v235",105,103,0.981,"32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v235",105,103,0.981,"32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v235",105,103,0.981,"32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v235",105,103,0.981,"32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v235",105,103,0.981,"32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿暂时性糖尿病2型",null,610374,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v236",44,25,0.5682,"32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v236",44,25,0.5682,"32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v236",44,25,0.5682,"32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v236",44,25,0.5682,"32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v236",44,25,0.5682,"32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v237",77,46,0.5974,"32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213"]
["32630A(747)v237",77,46,0.5974,"32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213"]
["32630A(747)v237",77,46,0.5974,"32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213"]
["32630A(747)v237",77,46,0.5974,"32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213"]
["32630A(747)v237",77,46,0.5974,"32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86","位于基因组单拷贝区域+DNA结构正常",6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213"]
["32630A(747)v238",223,223,1,"32630A","ABCC9","chr12:22017422","c.2199-11T>C(exon17)","非编码区","rs697250",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,220,"非编码区",16202,"1.0000=262/262","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs697250|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v238",223,223,1,"32630A","ABCC9","chr12:22017422","c.2199-11T>C(exon17)","非编码区","rs697250",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,1,4,3,"ABCC9",1,220,"非编码区",16202,"1.0000=262/262","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs697250|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v238",223,223,1,"32630A","ABCC9","chr12:22017422","c.2199-11T>C(exon17)","非编码区","rs697250",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,220,"非编码区",16202,"1.0000=262/262","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs697250|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v239",191,191,1,"32630A","ABCC9","chr12:22063115","c.1296T>C(exon8)","p.P432P","rs10770865",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,220,"同义",13203,"1.0000=227/227","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs10770865|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v239",191,191,1,"32630A","ABCC9","chr12:22063115","c.1296T>C(exon8)","p.P432P","rs10770865",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,1,4,3,"ABCC9",1,220,"同义",13203,"1.0000=227/227","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs10770865|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v239",191,191,1,"32630A","ABCC9","chr12:22063115","c.1296T>C(exon8)","p.P432P","rs10770865",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,220,"同义",13203,"1.0000=227/227","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs10770865|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v240",141,141,1,"32630A","ABCC9","chr12:22063749","c.1164+11A>G(exon7)","非编码区","rs4762720",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,220,"非编码区",16203,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs4762720|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v240",141,141,1,"32630A","ABCC9","chr12:22063749","c.1164+11A>G(exon7)","非编码区","rs4762720",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,1,4,3,"ABCC9",1,220,"非编码区",16203,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs4762720|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v240",141,141,1,"32630A","ABCC9","chr12:22063749","c.1164+11A>G(exon7)","非编码区","rs4762720",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,220,"非编码区",16203,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs4762720|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v241",50,28,0.56,"32630A","ABCC9","chr12:22068849","c.574-5C>A(exon5)","非编码区","rs3759236",0.64,0.78,0.76,0.79,0.77,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,220,"非编码区",16201,"0.5818=32/55","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs3759236|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v241",50,28,0.56,"32630A","ABCC9","chr12:22068849","c.574-5C>A(exon5)","非编码区","rs3759236",0.64,0.78,0.76,0.79,0.77,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,2,4,3,"ABCC9",1,220,"非编码区",16201,"0.5818=32/55","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs3759236|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v241",50,28,0.56,"32630A","ABCC9","chr12:22068849","c.574-5C>A(exon5)","非编码区","rs3759236",0.64,0.78,0.76,0.79,0.77,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,220,"非编码区",16201,"0.5818=32/55","位于基因组单拷贝区域+DNA结构正常",10060,"12p12.1","NM_020297",null,"rs3759236|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v242",9,9,1,"32630A","ABCD1","chrX:152994677","c.901-10C>T(exon2)","非编码区","rs2269365",null,0.057,0.013,0.1,0.062,0.034,"半合子","未知","剪切位点预测结果为无害",null,"X连锁肾上腺脑白质营养不良","XR",300100,4,1,2,1,"ABCD1",1,36,"非编码区",16302,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",215,"Xq28","NM_000033"]
["32630A(747)v243",4,4,1,"32630A","ABCD1","chrX:153009197","c.*8G>C(exon10)","非编码区","rs2229539",null,0.59,0.59,0.58,0.46,0.65,"半合子","未知","UTR突变可能影响蛋白翻译",23757202,"X连锁肾上腺脑白质营养不良","XR",300100,3,1,2,1,"ABCD1",1,36,"非编码区",14300,"1.0000=5/5","位于基因组多拷贝区域+DNA结构正常",215,"Xq28","NM_000033",null,"rs2229539|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v244",147,147,1,"32630A","ABCE1","chr4:146046138","c.1641-4T>C(exon17)","非编码区","rs4835203",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCE1",1,270,"非编码区",16202,"1.0000=165/165","位于基因组单拷贝区域+DNA结构正常",6059,"4q31","NM_002940"]
["32630A(747)v245",45,45,1,"32630A","ABCF2","chr7:150916228","c.939C>T(exon8)","p.Y313Y","rs6949587",0.42,0.69,0.76,0.63,0.69,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCF2",1,83,"同义",13203,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",10061,"7q36","NM_007189"]
["32630A(747)v246",72,72,1,"32630A","ABCF2","chr7:150921950","c.279T>C(exon3)","p.L93L","rs6464133",0.74,0.9,0.91,0.88,0.89,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCF2",1,83,"同义",13203,"1.0000=85/85","位于基因组多拷贝区域+DNA结构正常",10061,"7q36","NM_007189"]
["32630A(747)v247",38,19,0.5,"32630A","ABCF3","chr3:183903935-183903936","c.-61(exon1)_c.-60(exon1)insG","非编码区","rs397755106",null,0.6,0.58,0.62,0.57,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ABCF3",1,91,"非编码区",2430,"0.4651=20/43","位于基因组单拷贝区域+简单重复结构",55324,"3q27.1","NM_018358"]
["32630A(747)v248",79,44,0.557,"32630A","ABCF3","chr3:183904049","c.54A>G(exon1)","p.Q18Q","rs11539876",0.17,0.32,0.36,0.29,0.28,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCF3",1,91,"同义",13203,"0.5638=53/94","位于基因组单拷贝区域+DNA结构正常",55324,"3q27.1","NM_018358"]
["32630A(747)v249",63,24,0.381,"32630A","ABCF3","chr3:183907032","c.1035-11G>C(exon11)","非编码区","rs843344",0.55,0.61,0.59,0.63,0.64,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCF3",1,91,"非编码区",16202,"0.3824=26/68","位于基因组单拷贝区域+DNA结构正常",55324,"3q27.1","NM_018358"]
["32630A(747)v250",81,35,0.4321,"32630A","ABCG1","chr21:43640066","c.-16C>G(exon1)","非编码区","rs9975490",0.16,0.26,0.25,0.27,0.25,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCG1",1,88,"非编码区",14200,"0.4333=39/90","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_207174"]
["32630A(747)v251",68,31,0.4559,"32630A","ABCG1","chr21:43640169","c.75+13T>C(exon1)","非编码区","rs4148100",0.16,0.26,0.25,0.27,0.25,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCG1",1,88,"非编码区",16203,"0.4211=32/76","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_207174"]
["32630A(747)v252",129,127,0.9845,"32630A","ABCG2","chr4:89022362","c.1367+20G>A(exon11)","非编码区","rs2231153",0.67,0.75,0.75,0.75,0.78,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血浆尿酸浓度数量性状位点1","AD",138900,5,1,2,2,"ABCG2",1,170,"非编码区",16203,"0.9860=141/143","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_004827"]
["32630A(747)v252",129,127,0.9845,"32630A","ABCG2","chr4:89022362","c.1367+20G>A(exon11)","非编码区","rs2231153",0.67,0.75,0.75,0.75,0.78,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血型JUNIOR系统",null,614490,5,1,2,2,"ABCG2",1,170,"非编码区",16203,"0.9860=141/143","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_004827"]
["32630A(747)v253",97,96,0.9897,"32630A","ABCG2","chr4:89052323","c.421C>A(exon5)","p.Q141K","rs2231142",0.12,0.28,0.26,0.31,0.3,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","20368174;18834626;18547414;19474294;19503597","血浆尿酸浓度数量性状位点1","AD",138900,5,1,2,2,"ABCG2",1,170,"非同义",11200,"0.9904=103/104","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_004827","GLN141LYS|\"Gout_association_with\"|18834626","GLN141LYS|association|OMIM:138900|OMIM:603756.0007|no assertion criteria provided|PubMed:20368174","GLN141LYS|138900|603756.0007.1"]
["32630A(747)v253",97,96,0.9897,"32630A","ABCG2","chr4:89052323","c.421C>A(exon5)","p.Q141K","rs2231142",0.12,0.28,0.26,0.31,0.3,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","20368174;18834626;18547414;19474294;19503597","血型JUNIOR系统",null,614490,5,1,2,2,"ABCG2",1,170,"非同义",11200,"0.9904=103/104","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_004827","GLN141LYS|\"Gout_association_with\"|18834626","GLN141LYS|association|OMIM:138900|OMIM:603756.0007|no assertion criteria provided|PubMed:20368174","GLN141LYS|138900|603756.0007.1"]
["32630A(747)v254",22,22,1,"32630A","ABCG4","chr11:119031841-119031842","c.*25(exon15)_c.*26(exon15)insC","非编码区","rs398017754",null,1,1,1,0.83,1,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ABCG4",1,62,"非编码区",2430,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",64137,"11q23.3","NM_022169"]
["32630A(747)v255",97,97,1,"32630A","ABCG8","chr2:44066174","c.-19T>G(exon1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.82,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16507104;19005228","谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,82,"非编码区",14200,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437",null,"rs3806471|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v255",97,97,1,"32630A","ABCG8","chr2:44066174","c.-19T>G(exon1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.82,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16507104;19005228","胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,82,"非编码区",14200,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437",null,"rs3806471|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v256",59,59,1,"32630A","ABCG8","chr2:44071639","c.64-7C>T(exon2)","非编码区","rs4148210",0.52,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,82,"非编码区",16202,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32630A(747)v256",59,59,1,"32630A","ABCG8","chr2:44071639","c.64-7C>T(exon2)","非编码区","rs4148210",0.52,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,82,"非编码区",16202,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32630A(747)v257",62,62,1,"32630A","ABCG8","chr2:44071743","c.161A>G(exon2)","p.Y54C","rs4148211",0.43,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17827468;15996216;19005228;20170916","谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,82,"非同义",12210,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437","TYR54CYS|\"Smaller_decline_in_cholesterol_synthesis_after_weight_loss\"|17827468"]
["32630A(747)v257",62,62,1,"32630A","ABCG8","chr2:44071743","c.161A>G(exon2)","p.Y54C","rs4148211",0.43,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17827468;15996216;19005228;20170916","胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,82,"非同义",12210,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437","TYR54CYS|\"Smaller_decline_in_cholesterol_synthesis_after_weight_loss\"|17827468"]
["32630A(747)v258",61,28,0.459,"32630A","ABCG8","chr2:44101537-44101538","c.1412-9(exon10)_c.1412-8(exon10)insT","非编码区","rs138296512",null,0.34,0.35,0.32,0.4,0.32,"杂合","未知","内含子突变",null,"谷甾醇血症","AR",210250,4,3,6,2,"ABCG8",1,82,"非编码区",2500,"0.4706=32/68","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32630A(747)v258",61,28,0.459,"32630A","ABCG8","chr2:44101537-44101538","c.1412-9(exon10)_c.1412-8(exon10)insT","非编码区","rs138296512",null,0.34,0.35,0.32,0.4,0.32,"杂合","未知","内含子突变",null,"胆囊病4型",null,611465,4,2,6,2,"ABCG8",1,82,"非编码区",2500,"0.4706=32/68","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32630A(747)v259",64,64,1,"32630A","ABCG8","chr2:44101538","c.1412-8C>T(exon10)","非编码区","rs28517482",0.76,0.97,0.97,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,82,"非编码区",16202,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32630A(747)v259",64,64,1,"32630A","ABCG8","chr2:44101538","c.1412-8C>T(exon10)","非编码区","rs28517482",0.76,0.97,0.97,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,82,"非编码区",16202,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32630A(747)v260",114,114,1,"32630A","ABCG8","chr2:44104925","c.1895T>C(exon13)","p.V632A","rs6544718",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","16980816;15996216;16507104;20170916","谷甾醇血症","AR",210250,3,1,6,2,"ABCG8",1,82,"非同义",12320,"1.0000=126/126","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437","rs6544718|\"Increased_serum_cholesterol_in_low-cholesterol_consumers\"|16980816"]
["32630A(747)v260",114,114,1,"32630A","ABCG8","chr2:44104925","c.1895T>C(exon13)","p.V632A","rs6544718",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","16980816;15996216;16507104;20170916","胆囊病4型",null,611465,3,1,6,2,"ABCG8",1,82,"非同义",12320,"1.0000=126/126","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437","rs6544718|\"Increased_serum_cholesterol_in_low-cholesterol_consumers\"|16980816"]
["32630A(747)v261",11,6,0.5455,"32630A","ABHD11","chr7:73150694","c.*195T>G(exon6)","非编码区","rs1136954",0.61,0.56,0.55,0.58,0.62,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABHD11",1,76,"非编码区",14200,"0.5000=7/14","位于基因组多拷贝区域+DNA结构正常",83451,"7q11.23","NM_148912"]
["32630A(747)v262",36,14,0.3889,"32630A","ABHD11","chr7:73151644","c.540T>C(exon4)","p.Y180Y","rs6460052",0.6,0.56,0.55,0.58,0.56,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABHD11",1,76,"同义",13203,"0.3810=16/42","位于基因组单拷贝区域+DNA结构正常",83451,"7q11.23","NM_148912"]
["32630A(747)v263",211,211,1,"32630A","ABHD12B","chr14:51368610","c.844A>G(exon10)","p.I282V","rs28564871",0.28,0.46,0.47,0.46,0.46,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非同义",12220,"1.0000=243/243","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32630A(747)v264",110,110,1,"32630A","ABHD12B","chr14:51370784","c.943-8G>C(exon12)","非编码区","rs4901064",0.28,0.46,0.47,0.46,0.46,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非编码区",16202,"1.0000=122/122","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32630A(747)v265",178,178,1,"32630A","ABHD12B","chr14:51371121","c.*37C>T(exon13)","非编码区","rs4901065",0.28,0.46,0.47,0.46,0.46,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非编码区",14200,"1.0000=215/215","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32630A(747)v266",166,166,1,"32630A","ABHD12B","chr14:51371130","c.*46C>T(exon13)","非编码区","rs11157780",0.25,0.46,0.47,0.46,0.46,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非编码区",14200,"1.0000=198/198","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32630A(747)v267",142,142,1,"32630A","ABHD12B","chr14:51371150","c.*66C>T(exon13)","非编码区","rs11157781",0.28,0.46,0.47,0.46,0.46,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非编码区",14200,"1.0000=171/171","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32630A(747)v268",43,43,1,"32630A","ABHD12","chr20:25275554-25275559","c.*50(exon13)_c.*55(exon13)delAACTAA","非编码区","rs16436",0.61,0.95,0.93,0.97,0.74,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",612674,5,1,5,1,"ABHD12",1,100,"非编码区",2420,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_015600"]
["32630A(747)v269",4,4,1,"32630A","ABHD12","chr20:25281184","c.*297C>G(exon13)","非编码区","rs11100",0.54,0.94,0.93,0.95,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",612674,5,1,5,1,"ABHD12",1,100,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472"]
["32630A(747)v270",35,35,1,"32630A","ABHD12","chr20:25281333","c.*148C>T(exon13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18635565,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,5,1,"ABHD12",1,100,"非编码区",14200,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472"]
["32630A(747)v271",50,50,1,"32630A","ABHD12","chr20:25281398","c.*83G>A(exon13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",612674,5,1,5,1,"ABHD12",1,100,"非编码区",14200,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472"]
["32630A(747)v272",32,32,1,"32630A","ABHD12","chr20:25282944","c.1068T>C(exon12)","p.D356D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,5,1,"ABHD12",1,100,"同义",13203,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472",null,"rs10966|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v273",6,2,0.3333,"32630A","ABHD13","chr13:108882748","c.*168A>G(exon2)","非编码区","rs9587535",0.12,0.11,0.12,0.097,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20386703,{"$nulls":3},5,null,1,0,"ABHD13",1,98,"非编码区",14200,"0.5000=4/8","位于基因组单拷贝区域+DNA结构正常",84945,"13q33.3","NM_032859"]
["32630A(747)v274",47,47,1,"32630A","ABHD15","chr17:27889578","c.*1A>G(exon2)","非编码区","rs539307",0.74,0.95,0.94,0.95,0.93,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD15",1,43,"非编码区",14200,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147"]
["32630A(747)v275",56,22,0.3929,"32630A","ABHD15","chr17:27889963","c.1023G>C(exon2)","p.P341P","rs721479",0.22,0.21,0.2,0.22,0.22,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD15",1,43,"同义",13203,"0.4032=25/62","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147"]
["32630A(747)v276",45,45,1,"32630A","ABHD15","chr17:27889986","c.1000A>G(exon2)","p.T334A","rs542939",0.77,0.89,0.88,0.9,0.89,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD15",1,43,"非同义",12220,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147"]
["32630A(747)v277",5,5,1,"32630A","ABHD16B","chr20:62492772","c.-122C>G(exon1)","非编码区","rs6011193",0.89,0.97,0.98,0.97,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,20,"非编码区",14200,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622"]
["32630A(747)v278",19,6,0.3158,"32630A","ABHD16B","chr20:62492922","c.29T>A(exon1)","p.L10Q","rs2281534",0.066,0.14,0.15,0.13,0.09,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,20,"非同义",12220,"0.3333=7/21","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622"]
["32630A(747)v279",14,7,0.5,"32630A","ABHD16B","chr20:62493978","c.1085G>A(exon1)","p.R362Q","rs74444574",0.065,0.14,0.15,0.13,0.079,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,20,"非同义",12220,"0.5000=7/14","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622"]
["32630A(747)v280",11,7,0.6364,"32630A","ABHD16B","chr20:62494027","c.1134G>C(exon1)","p.A378A","rs2236152",0.071,0.14,0.15,0.13,0.087,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,20,"同义",13203,"0.6364=7/11","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622"]
["32630A(747)v281",62,62,1,"32630A","ABHD1","chr2:27351948","c.411T>G(exon3)","p.D137E","rs6715286",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABHD1",1,88,"非同义",12230,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",84696,"2p23.3","NM_032604"]
["32630A(747)v282",92,48,0.5217,"32630A","ABHD2","chr15:89736558","c.1081+8T>C(exon14)","非编码区","rs6496562",0.33,0.21,0.22,0.2,0.19,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD2",1,110,"非编码区",16203,"0.5051=50/99","位于基因组单拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011"]
["32630A(747)v283",29,29,1,"32630A","ABHD2","chr15:89744004","c.*5350C>T(exon15)","非编码区","rs7179900",0.88,1,1,1,0.96,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD2",1,110,"非编码区",14200,"1.0000=31/31","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011"]
["32630A(747)v284",162,162,1,"32630A","ABHD2","chr15:89744476","c.*5822G>T(exon15)","非编码区","rs6416547",0.91,1,1,1,0.99,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD2",1,110,"非编码区",14200,"1.0000=186/186","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011"]
["32630A(747)v285",36,21,0.5833,"32630A","ABHD3","chr18:19284677-19284678","c.-52(exon1)_c.-51(exon1)insTCGCCCGCTCTCGCCCGCTC","非编码区","rs150746310",{"$nulls":4},0,0,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ABHD3",1,170,"非编码区",2430,"0.5814=25/43","位于基因组单拷贝区域+DNA结构正常",171586,"18q11.2","NM_138340"]
["32630A(747)v286",3,3,1,"32630A","ABHD4","chr14:23080679","c.*825A>G(exon7)","非编码区","rs3751480",0.69,0.85,0.85,0.85,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABHD4",1,94,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",63874,"14q11.2","NM_022060"]
["32630A(747)v287",21,9,0.4286,"32630A","ABHD8","chr19:17412218","c.208G>A(exon2)","p.G70R","rs3745186",0.13,0.15,0.16,0.14,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD8",1,35,"非同义",12220,"0.4286=9/21","位于基因组单拷贝区域+DNA结构正常",79575,"19p13.11","NM_024527"]
["32630A(747)v288",28,10,0.3571,"32630A","ABHD8","chr19:17412366","c.60C>T(exon2)","p.A20A","rs11086066",0.24,0.11,0.09,0.13,0.13,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD8",1,35,"同义",13203,"0.3571=10/28","位于基因组单拷贝区域+DNA结构正常",79575,"19p13.11","NM_024527"]
["32630A(747)v289",26,10,0.3846,"32630A","ABHD8","chr19:17412399","c.27C>T(exon2)","p.I9I","rs11086067",0.24,0.11,0.09,0.13,0.12,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD8",1,35,"同义",13203,"0.3846=10/26","位于基因组单拷贝区域+DNA结构正常",79575,"19p13.11","NM_024527"]
["32630A(747)v290",173,173,1,"32630A","ABI1","chr10:27065976","c.462+18C>T(exon3)","非编码区","rs7096584",0.21,0.096,0.095,0.097,null,0.099,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABI1",0.97,210,"非编码区",16203,"1.0000=193/193","位于基因组单拷贝区域+DNA结构正常",10006,"10p11.2","NM_005470"]
["32630A(747)v291",260,128,0.4923,"32630A","ABI3BP","chr3:100473505","c.2748G>A(exon31)","p.P916P","rs10936352",0.29,0.13,0.1,0.16,0.15,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABI3BP",1,240,"同义",13203,"0.4901=149/304","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429"]
["32630A(747)v292",116,51,0.4397,"32630A","ABI3BP","chr3:100594327-100594332","c.838+20(exon8)_c.838+25(exon8)delTATGCC","非编码区","rs3839090",null,0.44,0.46,0.43,0.088,0.42,"杂合","未知","内含子突变",{"$nulls":4},4,null,3,0,"ABI3BP",1,240,"非编码区",2500,"0.4453=61/137","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429"]
["32630A(747)v293",131,61,0.4656,"32630A","ABI3BP","chr3:100617680","c.408G>A(exon4)","p.S136S","rs2245370",0.73,0.92,0.95,0.89,0.92,0.92,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABI3BP",1,240,"同义",13203,"0.4400=66/150","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429"]
["32630A(747)v294",38,38,1,"32630A","ABI3","chr17:47297297","c.626T>C(exon5)","p.F209S","rs616338",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABI3",1,61,"非同义",12230,"1.0000=41/41","位于基因组单拷贝区域+DNA结构正常",51225,"17q21.3","NM_016428"]
["32630A(747)v295",19,11,0.5789,"32630A","ABL1","chr9:133761001","c.3381A>G(exon11)","p.P1127P","rs1056171",0.65,0.61,0.61,0.61,0.59,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABL1",1,80,"同义",13203,"0.6000=12/20","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_007313"]
["32630A(747)v296",7,3,0.4286,"32630A","ABL2","chr1:179198653","c.-121A>G(exon1)","非编码区","rs2306941",0.48,0.45,0.4,0.5,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABL2",1,110,"非编码区",14200,"0.4286=3/7","位于基因组单拷贝区域+DNA结构正常",27,"1q25.2","NM_007314"]
["32630A(747)v297",3,3,1,"32630A","ABLIM1","chr10:116191959","c.*4060C>A(exon24)","非编码区","rs7917021",0.95,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABLIM1",1,160,"非编码区",14200,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003408"]
["32630A(747)v298",94,50,0.5319,"32630A","ABLIM1","chr10:116307504","c.525T>C(exon5)","p.N175N","rs2247528",0.78,0.66,0.63,0.69,0.63,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABLIM1",1,160,"同义",13203,"0.5288=55/104","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003408"]
["32630A(747)v299",9,9,1,"32630A","ABLIM1","chr10:116444356","c.-244G>A(exon1)","非编码区","rs10885596",0.17,0.4,0.37,0.43,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABLIM1",1,160,"非编码区",14200,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003408"]
["32630A(747)v300",10,8,0.8,"32630A","ABLIM2","chr4:7968572","c.*145G>A(exon21)","非编码区","rs2292738",0.21,0.26,0.23,0.3,0.29,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABLIM2",1,89,"非编码区",14200,"0.7273=8/11","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083"]
["32630A(747)v301",79,79,1,"32630A","ABLIM2","chr4:8009759","c.*10C>T(exon14)","非编码区","rs17180256",0.77,0.78,0.78,0.78,0.78,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABLIM2",1,89,"非编码区",14200,"1.0000=88/88","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130088"]
["32630A(747)v302",76,37,0.4868,"32630A","ABLIM2","chr4:8021417","c.1370-19T>C(exon14)","非编码区","rs34477140",0.17,0.06,0.052,0.068,0.077,0.081,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABLIM2",1,89,"非编码区",16202,"0.5116=44/86","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083"]
["32630A(747)v303",107,107,1,"32630A","ABLIM2","chr4:8031471","c.1080T>C(exon11)","p.C360C","rs2385904",0.73,0.78,0.79,0.77,0.77,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABLIM2",1,89,"同义",13203,"1.0000=124/124","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083"]
["32630A(747)v304",51,51,1,"32630A","ABLIM2","chr4:8062689","c.763+5A>G(exon7)","非编码区","rs6811028",0.92,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABLIM2",1,89,"非编码区",16202,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083"]
["32630A(747)v305",51,51,1,"32630A","ABLIM2","chr4:8062690","c.763+4C>T(exon7)","非编码区","rs10938683",0.7,0.94,0.96,0.92,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABLIM2",1,89,"非编码区",16202,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083"]
["32630A(747)v306",9,3,0.3333,"32630A","ABLIM2","chr4:8160507","c.-91C>G(exon1)","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,7,0,"ABLIM2",1,89,"非编码区",14400,"0.3333=3/9","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083"]
["32630A(747)v307",29,19,0.6552,"32630A","ABO","chr9:136131289","c.829G>A(exon7)","p.V277M","rs8176748",0.27,0.25,0.26,0.23,0.24,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"非同义",12230,"0.6765=23/34","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v308",36,19,0.5278,"32630A","ABO","chr9:136131347","c.771C>T(exon7)","p.P257P","rs8176745",0.27,0.25,0.26,0.23,0.24,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"同义",13203,"0.5500=22/40","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v309",53,28,0.5283,"32630A","ABO","chr9:136131437","c.681G>A(exon7)","p.P227P","rs8176742",0.24,0.25,0.26,0.23,0.24,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19169360,"ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"同义",13203,"0.5357=30/56","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v310",50,24,0.48,"32630A","ABO","chr9:136131472","c.646T>A(exon7)","p.F216I","rs8176740",0.27,0.25,0.26,0.23,0.23,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19169360;24743543","ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"非同义",12230,"0.4815=26/54","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v311",57,30,0.5263,"32630A","ABO","chr9:136132873","c.297A>G(exon6)","p.T99T","rs8176720",0.45,0.45,0.44,0.46,0.46,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18940312;19169360;19729612;24094242;25302496","ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"同义",13203,"0.5410=33/61","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v312",108,45,0.4167,"32630A","ABO","chr9:136133506","c.220T>C(exon5)","p.S74P","rs512770",0.73,0.75,0.74,0.77,0.75,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19729612,"ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"非同义",12230,"0.4419=57/129","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v313",107,45,0.4206,"32630A","ABO","chr9:136133531","c.204-9T>C(exon5)","非编码区","rs4962040",0.31,0.34,0.31,0.37,0.31,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"非编码区",16202,"0.4400=55/125","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v314",64,22,0.3438,"32630A","ABO","chr9:136135237","c.189T>C(exon4)","p.H63H","rs549443",0.73,0.75,0.74,0.77,0.71,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"同义",13203,"0.3333=23/69","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v315",65,22,0.3385,"32630A","ABO","chr9:136135238","c.188A>G(exon4)","p.H63R","rs549446",0.71,0.75,0.74,0.77,0.71,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19729612,"ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"非同义",12230,"0.3286=23/70","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v316",63,39,0.619,"32630A","ABO","chr9:136136770","c.106T>G(exon3)","p.F36V","rs688976",0.72,0.75,0.74,0.77,0.76,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19729612,"ABO血型系统",null,616093,5,2,10,1,"ABO",1,55,"非同义",12230,"0.5821=39/67","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32630A(747)v317",73,35,0.4795,"32630A","ABP1","chr7:150554887","c.1329G>A(exon2)","p.A443A","rs2071514",0.3,0.45,0.43,0.48,0.47,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,64,"同义",13203,"0.4684=37/79","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091"]
["32630A(747)v318",64,34,0.5312,"32630A","ABP1","chr7:150555915","c.1635A>G(exon3)","p.P545P","rs10893",0.46,0.49,0.49,0.5,0.52,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABP1",1,64,"同义",13203,"0.5000=37/74","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091"]
["32630A(747)v319",50,26,0.52,"32630A","ABP1","chr7:150556002","c.1722T>C(exon3)","p.P574P","rs1049748",0.52,0.57,0.54,0.6,0.58,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21488903,{"$nulls":3},5,null,7,0,"ABP1",1,64,"同义",13203,"0.5357=30/56","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091"]
["32630A(747)v320",31,31,1,"32630A","ABP1","chr7:150556055","c.1775C>G(exon3)","p.T592R","rs6943147",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABP1",1,64,"非同义",12220,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091"]
["32630A(747)v321",32,32,1,"32630A","ABP1","chr7:150556056","c.1776G>C(exon3)","p.T592T","rs6943420",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABP1",1,64,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091"]
["32630A(747)v322",83,43,0.5181,"32630A","ABP1","chr7:150557622","c.1890G>A(exon4)","p.S630S","rs12179",0.45,0.49,0.49,0.5,0.52,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ABP1",1,64,"同义",13203,"0.5054=47/93","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091"]
["32630A(747)v323",80,45,0.5625,"32630A","ABP1","chr7:150557665","c.1933C>G(exon4)","p.H645D","rs1049793",0.45,0.49,0.49,0.5,0.52,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17700358;19450133;19670078",{"$nulls":3},5,null,7,0,"ABP1",1,64,"非同义",12220,"0.5444=49/90","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091","rs1049793|\"Reduced_activity\"|17700358"]
["32630A(747)v324",29,13,0.4483,"32630A","ABR","chr17:1083083","c.-62T>C(exon1)","非编码区","rs62070499",0.75,0.47,0.44,0.49,0.47,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABR",0.95,79,"非编码区",14200,"0.4667=14/30","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_021962"]
["32630A(747)v325",51,51,1,"32630A","ABR","chr17:960221","c.1348+17G>C(exon13)","非编码区","rs2304959",0.72,0.85,0.87,0.82,0.83,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABR",0.95,79,"非编码区",16203,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32630A(747)v326",42,42,1,"32630A","ABR","chr17:961304","c.1168-19G>T(exon12)","非编码区","rs2260448",0.85,0.96,0.97,0.96,0.96,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABR",0.95,79,"非编码区",16202,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32630A(747)v327",31,31,1,"32630A","ABR","chr17:970413","c.948G>A(exon10)","p.E316E","rs2262150",0.9,0.97,0.97,0.97,0.97,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABR",0.95,79,"同义",13203,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32630A(747)v328",53,53,1,"32630A","ABR","chr17:986742","c.501+18T>C(exon5)","非编码区","rs2257468",0.46,0.51,0.49,0.53,0.56,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABR",0.95,79,"非编码区",16203,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32630A(747)v329",135,69,0.5111,"32630A","ABT1","chr6:26597333","c.123A>G(exon1)","p.K41K","rs3800302",0.71,0.76,0.82,0.71,0.77,0.8,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABT1",1,89,"同义",13203,"0.5031=81/161","位于基因组多拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375"]
["32630A(747)v330",96,46,0.4792,"32630A","ABT1","chr6:26598188","c.288A>G(exon2)","p.G96G","rs3800303",0.52,0.67,0.72,0.61,0.63,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABT1",1,89,"同义",13203,"0.4667=49/105","位于基因组单拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375"]
["32630A(747)v331",30,19,0.6333,"32630A","ABT1","chr6:26598798","c.744G>A(exon3)","p.G248G","rs3800304",0.049,0.079,0.076,0.083,0.061,0.057,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ABT1",1,89,"同义",13103,"0.6250=20/32","位于基因组多拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375"]
["32630A(747)v332",2,2,1,"32630A","ABTB2","chr11:34173661","c.*273G>T(exon17)","非编码区","rs2982609",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABTB2",0.96,49,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",25841,"11p13","NM_145804"]
["32630A(747)v333",46,26,0.5652,"32630A","ABTB2","chr11:34378381","c.750C>G(exon1)","p.H250Q","rs1925368",0.18,0.38,0.41,0.34,0.36,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABTB2",0.96,49,"非同义",12220,"0.5283=28/53","位于基因组单拷贝区域+DNA结构正常",25841,"11p13","NM_145804"]
["32630A(747)v334",3,2,0.6667,"32630A","ABTB2","chr11:34379503","c.-373C>T(exon1)","非编码区","rs6484711",0.18,0.38,0.41,0.34,0.25,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABTB2",0.96,49,"非编码区",14200,"0.6667=2/3","位于基因组单拷贝区域+DNA结构正常",25841,"11p13","NM_145804"]
["32630A(747)v335",50,26,0.52,"32630A","ACAA1","chr3:38170810","c.516G>C(exon6)","p.E172D","rs156265",0.14,0.34,0.3,0.38,0.36,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACAA1",1,75,"非同义",12220,"0.5094=27/53","位于基因组单拷贝区域+DNA结构正常",30,"3p22.2","NM_001607"]
["32630A(747)v336",102,49,0.4804,"32630A","ACAA2","chr18:47318503","c.753+19A>T(exon6)","非编码区","rs10502901",0.16,0.26,0.24,0.28,0.31,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACAA2",1,160,"非编码区",16203,"0.5130=59/115","位于基因组单拷贝区域+DNA结构正常",10449,"18q21.1","NM_006111"]
["32630A(747)v337",159,159,1,"32630A","ACACA","chr17:35478362","c.6078A>G(exon54)","p.T2026T","rs1470452",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乙酰CoA羧化酶缺陷症","AR",613933,5,1,5,1,"ACACA",1,160,"同义",13203,"1.0000=176/176","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198839"]
["32630A(747)v338",189,85,0.4497,"32630A","ACACA","chr17:35609866","c.1812G>A(exon19)","p.Q604Q","rs2229416",0.22,0.5,0.46,0.54,0.44,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19846279,"乙酰CoA羧化酶缺陷症","AR",613933,5,3,5,1,"ACACA",1,160,"同义",13203,"0.4500=99/220","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198839"]
["32630A(747)v339",166,77,0.4639,"32630A","ACACA","chr17:35634023","c.610-16T>C(exon11)","非编码区","rs2302803",0.14,0.39,0.34,0.45,0.38,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乙酰CoA羧化酶缺陷症","AR",613933,5,3,5,1,"ACACA",1,160,"非编码区",16202,"0.4432=82/185","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198839"]
["32630A(747)v340",159,64,0.4025,"32630A","ACACA","chr17:35696804","c.-67C>T(exon6)","非编码区","rs58654829",null,0.7,0.69,0.72,0.7,0.7,"杂合","未知","UTR突变可能影响蛋白翻译",null,"乙酰CoA羧化酶缺陷症","AR",613933,3,3,5,1,"ACACA",1,160,"非编码区",14300,"0.4098=84/205","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198839"]
["32630A(747)v341",146,56,0.3836,"32630A","ACACA","chr17:35696821-35696824","c.39-14(exon2)_c.39-11(exon2)delCTTT","非编码区","rs147333574",null,0.7,0.69,0.72,0.097,0.69,"杂合","未知","内含子突变",null,"乙酰CoA羧化酶缺陷症","AR",613933,4,3,5,1,"ACACA",1,160,"非编码区",2500,"0.3936=74/188","位于基因组单拷贝区域+简单重复结构",31,"17q21","NM_198834"]
["32630A(747)v342",65,28,0.4308,"32630A","ACACB","chr12:109605730","c.816C>T(exon3)","p.A272A","rs4766516",0.23,0.56,0.6,0.51,0.54,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACACB",1,100,"同义",13203,"0.4247=31/73","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32630A(747)v343",45,22,0.4889,"32630A","ACACB","chr12:109617865","c.1791T>C(exon10)","p.D597D","rs11065772",0.68,0.74,0.7,0.78,0.78,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACACB",1,100,"同义",13203,"0.5000=24/48","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32630A(747)v344",62,28,0.4516,"32630A","ACACB","chr12:109623516","c.1951G>A(exon11)","p.A651T","rs2300455",0.16,0.27,0.26,0.27,0.28,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACACB",1,100,"非同义",12210,"0.4478=30/67","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32630A(747)v345",117,54,0.4615,"32630A","ACACB","chr12:109696838","c.6421G>A(exon46)","p.V2141I","rs2075260",0.74,0.69,0.69,0.68,0.72,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21887335,{"$nulls":3},5,null,5,0,"ACACB",1,100,"非同义",12220,"0.4552=61/134","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093","VAL2141ILE|\"Reduced_mRNA_expression\"|21887335"]
["32630A(747)v346",7,5,0.7143,"32630A","ACACB","chr12:109704325","c.*158C>T(exon52)","非编码区","rs2075263",0.78,0.69,0.69,0.68,0.74,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20855566,{"$nulls":3},5,null,5,0,"ACACB",1,100,"非编码区",14200,"0.7143=5/7","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32630A(747)v347",36,36,1,"32630A","ACAD10","chr12:112130708","c.187+8A>G(exon2)","非编码区","rs7132509",0.2,0.59,0.61,0.57,0.62,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAD10",1,110,"非编码区",16203,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538"]
["32630A(747)v348",44,44,1,"32630A","ACAD10","chr12:112191641","c.2976G>A(exon20)","p.A992A","rs2074055",0.2,0.59,0.61,0.57,0.62,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAD10",1,110,"同义",13203,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538"]
["32630A(747)v349",31,11,0.3548,"32630A","ACAD11","chr3:132277686","c.*129A>G(exon20)","非编码区","rs76584571",0.042,0.094,0.1,0.083,0.069,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ACAD11",1,170,"非编码区",14100,"0.2973=11/37","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169"]
["32630A(747)v350",175,95,0.5429,"32630A","ACAD11","chr3:132337477","c.1414+1G>T(exon11)","剪切位点","rs41272317",0.042,0.099,0.1,0.092,0.067,0.067,"杂合","较高","突变在经典剪切位点上，可能影响mRNA剪切",{"$nulls":4},1,null,4,0,"ACAD11",1,170,"剪切位点",16104,"0.5584=110/197","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169"]
["32630A(747)v351",178,86,0.4831,"32630A","ACAD11","chr3:132338295","c.1275+17C>T(exon10)","非编码区","rs41272319",0.042,0.099,0.1,0.092,0.067,0.067,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"ACAD11",1,170,"非编码区",16103,"0.5023=108/215","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169"]
["32630A(747)v352",193,193,1,"32630A","ACAD11","chr3:132360883","c.470G>A(exon4)","p.R157H","rs821572",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACAD11",1,170,"非同义",12230,"1.0000=236/236","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169"]
["32630A(747)v353",32,15,0.4688,"32630A","ACAD9","chr3:128598470-128598471","c.-65(exon1)_c.-64(exon1)delGT","非编码区","rs28384401",0.45,0.58,0.61,0.54,0.26,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,120,"非编码区",2420,"0.4412=15/34","位于基因组单拷贝区域+简单重复结构",28976,"3q21.3","NM_014049"]
["32630A(747)v354",50,50,1,"32630A","ACAD9","chr3:128614133","c.347-20C>T(exon4)","非编码区","rs1683791",0.66,0.71,0.72,0.69,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,1,5,1,"ACAD9",1,120,"非编码区",16202,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049",null,"rs1683791|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v355",58,26,0.4483,"32630A","ACAD9","chr3:128614185","c.379A>C(exon4)","p.R127R","rs1680778",0.54,0.65,0.67,0.64,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,120,"同义",13203,"0.4769=31/65","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049",null,"rs1680778|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v356",49,25,0.5102,"32630A","ACAD9","chr3:128627021","c.1279-7A>G(exon13)","非编码区","rs1683787",0.52,0.64,0.66,0.62,0.61,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,120,"非编码区",16202,"0.5424=32/59","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049",null,"rs1683787|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v357",54,26,0.4815,"32630A","ACAD9","chr3:128627933","c.1476C>T(exon14)","p.P492P","rs876755",0.31,0.58,0.61,0.54,0.55,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,120,"同义",13203,"0.4483=26/58","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049"]
["32630A(747)v358",159,72,0.4528,"32630A","ACADM","chr1:76194054","c.31-20C>G(exon2)","非编码区","rs7524467",0.18,0.031,0.029,0.034,0.035,0.029,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"中链酰基辅酶A脱氢酶缺乏症","AR",201450,5,3,3,1,"ACADM",1,290,"非编码区",16201,"0.4392=83/189","位于基因组单拷贝区域+DNA结构正常",34,"1p31","NM_001127328"]
["32630A(747)v359",282,140,0.4965,"32630A","ACADM","chr1:76198436","c.228+10T>C(exon3)","非编码区","rs2275378",0.23,0.031,0.029,0.034,0.035,0.028,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"中链酰基辅酶A脱氢酶缺乏症","AR",201450,5,3,3,1,"ACADM",1,290,"非编码区",16203,"0.5094=163/320","位于基因组单拷贝区域+DNA结构正常",34,"1p31","NM_001127328",null,"rs2275378|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32630A(747)v360",256,123,0.4805,"32630A","ACADM","chr1:76227022","c.1173A>G(exon11)","p.V391V","rs1061337",0.17,0.031,0.029,0.034,0.033,0.027,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;23810226","中链酰基辅酶A脱氢酶缺乏症","AR",201450,5,3,3,1,"ACADM",1,290,"同义",13203,"0.4826=153/317","位于基因组单拷贝区域+DNA结构正常",34,"1p31","NM_001127328","rs1061337|\"Improved_splicing_efficiency\"|23810226","rs1061337|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v361",173,90,0.5202,"32630A","ACADSB","chr10:124800853","c.639C>T(exon5)","p.H213H","rs1140591",0.23,0.12,0.11,0.12,0.15,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,3,2,1,"ACADSB",1,200,"同义",13203,"0.5095=107/210","位于基因组单拷贝区域+DNA结构正常",36,"10q26.13","NM_001609"]
["32630A(747)v362",2,2,1,"32630A","ACADSB","chr10:124813543","c.*262C>T(exon11)","非编码区","rs12248515",0.44,0.65,0.59,0.7,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,1,2,1,"ACADSB",1,200,"非编码区",14200,"1.0000=3/3","位于基因组多拷贝区域+DNA结构正常",36,"10q26.13","NM_001609"]
["32630A(747)v363",44,24,0.5455,"32630A","ACADS","chr12:121174899","c.321T>C(exon3)","p.R107R","rs3914",0.59,0.57,0.54,0.59,0.54,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","短链酰基辅酶A脱氢酶缺乏症","AR",201470,5,3,3,1,"ACADS",1,49,"同义",13203,"0.5556=25/45","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017",null,"rs3914|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v364",38,19,0.5,"32630A","ACADS","chr12:121174938","c.360C>T(exon3)","p.N120N","rs76543640",0.076,0.29,0.29,0.3,0.26,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","短链酰基辅酶A脱氢酶缺乏症","AR",201470,5,3,3,1,"ACADS",1,49,"同义",13202,"0.5250=21/40","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017",null,"rs76543640|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v365",19,11,0.5789,"32630A","ACADS","chr12:121176679","c.990C>T(exon8)","p.R330R","rs3915",null,0.57,0.54,0.59,0.54,0.53,"杂合","未知","预测范围之外的同义突变","CLINVAR数据库","短链酰基辅酶A脱氢酶缺乏症","AR",201470,4,3,3,1,"ACADS",1,49,"同义",13303,"0.6000=12/20","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017",null,"rs3915|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v366",9,9,1,"32630A","ACADVL","chr17:7123240-7123241","c.-367(exon1)_c.-366(exon1)insGGGCGTGCAGGACGC","非编码区","rs139223575",null,0.47,0.46,0.48,0.075,0.51,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,3,1,2,1,"ACADVL",0.39,15,"非编码区",2430,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",37,"17p13.1","NM_001270448"]
["32630A(747)v367",86,85,0.9884,"32630A","ACADVL","chr17:7127718","c.1377+6T>C(exon15)","非编码区","rs17671352",0.52,0.47,0.46,0.48,0.51,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,5,1,2,1,"ACADVL",0.39,15,"非编码区",16201,"0.9892=92/93","位于基因组单拷贝区域+DNA结构正常",37,"17p13.1","NM_001270448",null,"rs17671352|Benign|OMIM:201475|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32630A(747)v368",112,58,0.5179,"32630A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"同义",13203,"0.5120=64/125","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v368",112,58,0.5179,"32630A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"0.5120=64/125","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v368",112,58,0.5179,"32630A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,8,3,"ACAN",1,120,"同义",13203,"0.5120=64/125","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v369",33,33,1,"32630A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v369",33,33,1,"32630A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v369",33,33,1,"32630A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v370",129,61,0.4729,"32630A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"杂合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,8,3,"ACAN",1,120,"同义",13303,"0.4685=67/143","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v370",129,61,0.4729,"32630A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"杂合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,8,3,"ACAN",1,120,"同义",13303,"0.4685=67/143","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v370",129,61,0.4729,"32630A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"杂合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,2,8,3,"ACAN",1,120,"同义",13303,"0.4685=67/143","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v371",108,53,0.4907,"32630A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"非同义",12210,"0.4962=66/133","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v371",108,53,0.4907,"32630A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"非同义",12210,"0.4962=66/133","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v371",108,53,0.4907,"32630A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,8,3,"ACAN",1,120,"非同义",12210,"0.4962=66/133","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v372",61,41,0.6721,"32630A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"非同义",12220,"0.6515=43/66","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v372",61,41,0.6721,"32630A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"非同义",12220,"0.6515=43/66","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v372",61,41,0.6721,"32630A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,8,3,"ACAN",1,120,"非同义",12220,"0.6515=43/66","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v373",53,31,0.5849,"32630A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"同义",13203,"0.5862=34/58","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v373",53,31,0.5849,"32630A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"0.5862=34/58","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v373",53,31,0.5849,"32630A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,8,3,"ACAN",1,120,"同义",13203,"0.5862=34/58","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v374",49,23,0.4694,"32630A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"非同义",12220,"0.4727=26/55","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v374",49,23,0.4694,"32630A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"非同义",12220,"0.4727=26/55","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v374",49,23,0.4694,"32630A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,8,3,"ACAN",1,120,"非同义",12220,"0.4727=26/55","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v375",44,44,1,"32630A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","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",1,120,"同义",13203,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v375",44,44,1,"32630A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v375",44,44,1,"32630A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32630A(747)v376",76,76,1,"32630A","ACAP2","chr3:194999996","c.*61A>T(exon23)","非编码区","rs7610022",0.82,0.96,0.96,0.96,0.94,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACAP2",1,200,"非编码区",14200,"1.0000=88/88","位于基因组单拷贝区域+DNA结构正常",23527,"3q29","NM_012287"]
["32630A(747)v377",37,24,0.6486,"32630A","ACAP3","chr1:1231507","c.1408-18C>T(exon17)","非编码区","rs619608",0.12,0.15,0.17,0.14,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAP3",1,36,"非编码区",16202,"0.6486=24/37","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649"]
["32630A(747)v378",35,18,0.5143,"32630A","ACAP3","chr1:1233941","c.863+6A>G(exon11)","非编码区","rs1739855",0.5,0.75,0.8,0.7,0.7,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAP3",1,36,"非编码区",16202,"0.5405=20/37","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649"]
["32630A(747)v379",11,4,0.3636,"32630A","ACAT1","chr11:107992325","c.-9T>A(exon1)","非编码区","rs3741055",0.31,0.37,0.39,0.36,0.31,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"线粒体乙酰乙酰辅酶A硫解酶缺乏症/β-酮硫解酶/短链3-酮脂酰辅酶A硫解酶缺乏症","AR",203750,5,3,2,1,"ACAT1",1,210,"非编码区",14200,"0.4615=6/13","位于基因组单拷贝区域+DNA结构正常",38,"11q22.3","NM_000019",null,"rs3741055|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v380",8,3,0.375,"32630A","ACAT1","chr11:107992346","c.13G>C(exon1)","p.A5P","rs3741056",0.33,0.37,0.39,0.36,0.32,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"线粒体乙酰乙酰辅酶A硫解酶缺乏症/β-酮硫解酶/短链3-酮脂酰辅酶A硫解酶缺乏症","AR",203750,5,3,2,1,"ACAT1",1,210,"非同义",12220,"0.5000=5/10","位于基因组单拷贝区域+DNA结构正常",38,"11q22.3","NM_000019",null,"ALA5PRO|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v381",104,47,0.4519,"32630A","ACAT2","chr6:160196343","c.632A>G(exon5)","p.K211R","rs25683",0.37,0.14,0.15,0.13,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,2,1,"ACAT2",1,140,"非同义",12220,"0.4583=55/120","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891"]
["32630A(747)v382",119,51,0.4286,"32630A","ACAT2","chr6:160199687","c.1024-4T>C(exon9)","非编码区","rs15982",0.68,0.57,0.57,0.56,0.6,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15121791;16465465","乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,2,1,"ACAT2",1,140,"非编码区",16202,"0.4130=57/138","位于基因组单拷贝区域+DNA结构正常",39,"6q25.3","NM_005891","rs15982|\"Schizophrenia_association_with\"|15121791"]
["32630A(747)v383",87,43,0.4943,"32630A","ACBD3","chr1:226352498","c.561A>C(exon3)","p.E187D","rs2306120",0.53,0.45,0.41,0.49,0.42,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACBD3",1,100,"非同义",12220,"0.4574=43/94","位于基因组单拷贝区域+DNA结构正常",64746,"1q42.12","NM_022735"]
["32630A(747)v384",111,111,1,"32630A","ACBD5","chr10:27508758","c.513A>G(exon5)","p.P171P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACBD5",1,160,"同义",13203,"1.0000=124/124","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512"]
["32630A(747)v385",63,60,0.9524,"32630A","ACBD5","chr10:27529549","c.-127G>T(exon1)","非编码区","rs2797078",0.68,0.51,0.48,0.54,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACBD5",1,160,"非编码区",14200,"0.9552=64/67","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512"]
["32630A(747)v386",61,61,1,"32630A","ACBD5","chr10:27529565","c.-143A>G(exon1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACBD5",1,160,"非编码区",14200,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512"]
["32630A(747)v387",65,65,1,"32630A","ACCSL","chr11:44080210","c.1585T>C(exon13)","p.C529R","rs2074051",0.79,0.87,0.87,0.88,0.89,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACCSL",1,99,"非同义",12220,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854"]
["32630A(747)v388",65,65,1,"32630A","ACCS","chr11:44089161","c.1-17G>A(exon2)","非编码区","rs178514",0.83,0.88,0.89,0.87,0.9,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACCS",1,82,"非编码区",16202,"1.0000=75/75","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_032592"]
["32630A(747)v389",101,52,0.5149,"32630A","ACCS","chr11:44089352","c.175G>A(exon2)","p.D59N","rs33952257",0.27,0.36,0.35,0.37,0.36,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACCS",1,82,"非同义",12220,"0.4953=53/107","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_032592"]
["32630A(747)v390",82,82,1,"32630A","ACCS","chr11:44096238","c.489+7G>A(exon5)","非编码区","rs178521",0.77,0.94,0.95,0.94,0.95,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACCS",1,82,"非编码区",16203,"1.0000=97/97","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_032592"]
["32630A(747)v391",55,55,1,"32630A","ACCS","chr11:44104701-44104702","c.1112-18(exon13)_c.1112-17(exon13)insCT","非编码区","rs79395013",0.77,0.94,0.95,0.94,0.92,0.92,"纯合","未知","内含子突变",{"$nulls":4},4,null,5,0,"ACCS",1,82,"非编码区",2500,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_032592"]
["32630A(747)v392",47,16,0.3404,"32630A","ACCS","chr11:44104981","c.1262C>T(exon14)","p.P421L","rs3107275",0.4,0.53,0.54,0.51,0.48,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16741161,{"$nulls":3},5,null,5,0,"ACCS",1,82,"非同义",12210,"0.3273=18/55","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_032592","PRO421LEU|\"Lung_cancer_susceptibility_to_association_with\"|16741161"]
["32630A(747)v393",168,167,0.994,"32630A","ACE2","chrX:15610348","c.439+4G>A(exon4)","非编码区","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"半合子","未知","剪切位点预测结果为无害","18560893;19684612;20125035;21490025;24926374",{"$nulls":3},4,null,2,0,"ACE2",1,120,"非编码区",16302,"0.9950=199/200","位于基因组单拷贝区域+DNA结构正常",59272,"Xp22","NM_021804"]
["32630A(747)v394",85,85,1,"32630A","ACE2","chrX:15618933","c.102C>T(exon2)","p.H34H","rs368655410",{"$nulls":5},0.0006,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACE2",1,120,"同义",13303,"1.0000=95/95","位于基因组单拷贝区域+DNA结构正常",59272,"Xp22","NM_021804"]
["32630A(747)v395",49,25,0.5102,"32630A","ACER1","chr19:6312290","c.220A>G(exon3)","p.M74V","rs72981971",0.16,0.37,0.36,0.39,0.34,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACER1",1,75,"非同义",12220,"0.5424=32/59","位于基因组单拷贝区域+DNA结构正常",125981,"19p13.3","NM_133492"]
["32630A(747)v396",116,63,0.5431,"32630A","ACER3","chr11:76687399","c.320+14A>C(exon4)","非编码区","rs1517909",0.66,0.66,0.64,0.67,0.67,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACER3",1,200,"非编码区",16203,"0.5857=82/140","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367"]
["32630A(747)v397",173,82,0.474,"32630A","ACER3","chr11:76701606","c.426G>A(exon6)","p.P142P","rs3740767",0.53,0.66,0.64,0.67,0.67,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19586928,{"$nulls":3},5,null,2,0,"ACER3",1,200,"同义",13203,"0.4804=98/204","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367"]
["32630A(747)v398",51,30,0.5882,"32630A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"同义",13203,"0.6034=35/58","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v398",51,30,0.5882,"32630A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"同义",13203,"0.6034=35/58","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v398",51,30,0.5882,"32630A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"同义",13203,"0.6034=35/58","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v398",51,30,0.5882,"32630A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"同义",13203,"0.6034=35/58","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v398",51,30,0.5882,"32630A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"同义",13203,"0.6034=35/58","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v399",80,39,0.4875,"32630A","ACE","chr17:61562309","c.81C>T(exon1)","p.P27P","rs4316",0.52,0.73,0.71,0.75,0.65,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"同义",13203,"0.4945=45/91","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32630A(747)v399",80,39,0.4875,"32630A","ACE","chr17:61562309","c.81C>T(exon1)","p.P27P","rs4316",0.52,0.73,0.71,0.75,0.65,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;24658007","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"同义",13203,"0.4945=45/91","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32630A(747)v399",80,39,0.4875,"32630A","ACE","chr17:61562309","c.81C>T(exon1)","p.P27P","rs4316",0.52,0.73,0.71,0.75,0.65,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;24658007","心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"同义",13203,"0.4945=45/91","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32630A(747)v399",80,39,0.4875,"32630A","ACE","chr17:61562309","c.81C>T(exon1)","p.P27P","rs4316",0.52,0.73,0.71,0.75,0.65,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;24658007","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"同义",13203,"0.4945=45/91","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32630A(747)v399",80,39,0.4875,"32630A","ACE","chr17:61562309","c.81C>T(exon1)","p.P27P","rs4316",0.52,0.73,0.71,0.75,0.65,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;24658007","脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"同义",13203,"0.4945=45/91","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32630A(747)v400",65,30,0.4615,"32630A","ACE","chr17:61564052","c.2193A>G(exon14)","p.A731A","rs4331",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;15500681;17092869;20486282;21709586","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"同义",13203,"0.4493=31/69","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v400",65,30,0.4615,"32630A","ACE","chr17:61564052","c.2193A>G(exon14)","p.A731A","rs4331",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;15500681;17092869;20486282;21709586","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"同义",13203,"0.4493=31/69","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v400",65,30,0.4615,"32630A","ACE","chr17:61564052","c.2193A>G(exon14)","p.A731A","rs4331",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;15500681;17092869;20486282;21709586","心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"同义",13203,"0.4493=31/69","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v400",65,30,0.4615,"32630A","ACE","chr17:61564052","c.2193A>G(exon14)","p.A731A","rs4331",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;15500681;17092869;20486282;21709586","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"同义",13203,"0.4493=31/69","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v400",65,30,0.4615,"32630A","ACE","chr17:61564052","c.2193A>G(exon14)","p.A731A","rs4331",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;15500681;17092869;20486282;21709586","脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"同义",13203,"0.4493=31/69","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v401",88,37,0.4205,"32630A","ACE","chr17:61565990","c.2306-19G>C(exon16)","非编码区","rs4341",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;18622756;19291311;20402757;20463618","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"非编码区",16202,"0.3939=39/99","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v401",88,37,0.4205,"32630A","ACE","chr17:61565990","c.2306-19G>C(exon16)","非编码区","rs4341",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;18622756;19291311;20402757;20463618","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"非编码区",16202,"0.3939=39/99","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v401",88,37,0.4205,"32630A","ACE","chr17:61565990","c.2306-19G>C(exon16)","非编码区","rs4341",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;18622756;19291311;20402757;20463618","心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.3939=39/99","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v401",88,37,0.4205,"32630A","ACE","chr17:61565990","c.2306-19G>C(exon16)","非编码区","rs4341",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;18622756;19291311;20402757;20463618","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.3939=39/99","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v401",88,37,0.4205,"32630A","ACE","chr17:61565990","c.2306-19G>C(exon16)","非编码区","rs4341",0.53,0.73,0.7,0.75,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;18622756;19291311;20402757;20463618","脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.3939=39/99","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v402",96,39,0.4062,"32630A","ACE","chr17:61565998","c.2306-11A>C(exon16)","非编码区","rs4342",0.53,0.73,0.7,0.75,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"非编码区",16202,"0.3832=41/107","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v402",96,39,0.4062,"32630A","ACE","chr17:61565998","c.2306-11A>C(exon16)","非编码区","rs4342",0.53,0.73,0.7,0.75,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"非编码区",16202,"0.3832=41/107","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v402",96,39,0.4062,"32630A","ACE","chr17:61565998","c.2306-11A>C(exon16)","非编码区","rs4342",0.53,0.73,0.7,0.75,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.3832=41/107","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v402",96,39,0.4062,"32630A","ACE","chr17:61565998","c.2306-11A>C(exon16)","非编码区","rs4342",0.53,0.73,0.7,0.75,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.3832=41/107","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v402",96,39,0.4062,"32630A","ACE","chr17:61565998","c.2306-11A>C(exon16)","非编码区","rs4342",0.53,0.73,0.7,0.75,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.3832=41/107","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v403",104,43,0.4135,"32630A","ACE","chr17:61566031","c.2328G>A(exon16)","p.T776T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14986105;16642441;17173513;17460369;18057531","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"同义",13203,"0.3929=44/112","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v403",104,43,0.4135,"32630A","ACE","chr17:61566031","c.2328G>A(exon16)","p.T776T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14986105;16642441;17173513;17460369;18057531","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"同义",13203,"0.3929=44/112","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v403",104,43,0.4135,"32630A","ACE","chr17:61566031","c.2328G>A(exon16)","p.T776T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14986105;16642441;17173513;17460369;18057531","心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"同义",13203,"0.3929=44/112","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v403",104,43,0.4135,"32630A","ACE","chr17:61566031","c.2328G>A(exon16)","p.T776T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14986105;16642441;17173513;17460369;18057531","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"同义",13203,"0.3929=44/112","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v403",104,43,0.4135,"32630A","ACE","chr17:61566031","c.2328G>A(exon16)","p.T776T","rs4343",0.64,0.73,0.7,0.76,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14986105;16642441;17173513;17460369;18057531","脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"同义",13203,"0.3929=44/112","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v404",46,23,0.5,"32630A","ACE","chr17:61573761","c.3387T>C(exon23)","p.F1129F","rs4362",0.59,0.68,0.66,0.71,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;18076107;19105203;19132786;20416077","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"同义",13203,"0.5455=30/55","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v404",46,23,0.5,"32630A","ACE","chr17:61573761","c.3387T>C(exon23)","p.F1129F","rs4362",0.59,0.68,0.66,0.71,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;18076107;19105203;19132786;20416077","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"同义",13203,"0.5455=30/55","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v404",46,23,0.5,"32630A","ACE","chr17:61573761","c.3387T>C(exon23)","p.F1129F","rs4362",0.59,0.68,0.66,0.71,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;18076107;19105203;19132786;20416077","心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"同义",13203,"0.5455=30/55","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v404",46,23,0.5,"32630A","ACE","chr17:61573761","c.3387T>C(exon23)","p.F1129F","rs4362",0.59,0.68,0.66,0.71,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;18076107;19105203;19132786;20416077","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"同义",13203,"0.5455=30/55","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v404",46,23,0.5,"32630A","ACE","chr17:61573761","c.3387T>C(exon23)","p.F1129F","rs4362",0.59,0.68,0.66,0.71,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;18076107;19105203;19132786;20416077","脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"同义",13203,"0.5455=30/55","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v405",18,10,0.5556,"32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v405",18,10,0.5556,"32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v405",18,10,0.5556,"32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v405",18,10,0.5556,"32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v405",18,10,0.5556,"32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32630A(747)v406",48,24,0.5,"32630A","ACIN1","chr14:23530622","c.3483A>G(exon17)","p.S1161S","rs60168438",0.25,0.26,0.27,0.26,0.3,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACIN1",1,83,"同义",13203,"0.4464=25/56","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32630A(747)v407",42,42,1,"32630A","ACIN1","chr14:23549379","c.1339G>C(exon6)","p.A447P","rs941719",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACIN1",1,83,"非同义",12230,"1.0000=51/51","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32630A(747)v408",57,57,1,"32630A","ACLY","chr17:40024023","c.*40T>A(exon29)","非编码区","rs7217218",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,92,"非编码区",14200,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096"]
["32630A(747)v409",122,122,1,"32630A","ACLY","chr17:40025285","c.3134+11T>C(exon27)","非编码区","rs9914829",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,92,"非编码区",16203,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096"]
["32630A(747)v410",41,40,0.9756,"32630A","ACLY","chr17:40028450","c.2643-15T>A(exon24)","非编码区","rs8071627",0.78,0.82,0.85,0.79,0.83,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,92,"非编码区",16201,"0.9783=45/46","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096"]
["32630A(747)v411",84,84,1,"32630A","ACLY","chr17:40048613","c.1689T>C(exon16)","p.H563H","rs8065502",0.9,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,92,"同义",13203,"1.0000=92/92","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096"]
["32630A(747)v412",220,110,0.5,"32630A","ACMSD","chr2:135616891","c.163G>C(exon3)","p.D55H","rs117363436",2E-3,0.014,0.014,0.015,0.015,0.015,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"ACMSD",1,200,"非同义",12110,"0.4942=127/257","位于基因组单拷贝区域+DNA结构正常",130013,"2q21.3","NM_138326"]
["32630A(747)v413",80,38,0.475,"32630A","ACO1","chr9:32425910","c.1263A>G(exon11)","p.E421E","rs3780473",0.35,0.58,0.57,0.59,0.54,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18755042;20403199",{"$nulls":3},5,null,2,0,"ACO1",1,170,"同义",13203,"0.4943=43/87","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197"]
["32630A(747)v414",38,19,0.5,"32630A","ACO1","chr9:32450187","c.*78T>C(exon21)","非编码区","rs12985",0.4,0.54,0.53,0.54,0.54,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18755042,{"$nulls":3},5,null,2,0,"ACO1",1,170,"非编码区",14200,"0.5250=21/40","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197"]
["32630A(747)v415",68,33,0.4853,"32630A","ACO2","chr22:41903813","c.192A>C(exon3)","p.T64T","rs137831",0.42,0.6,0.62,0.57,0.5,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","婴儿大脑-视网膜退化症","AR",614559,5,3,2,1,"ACO2",1,84,"同义",13203,"0.4459=33/74","位于基因组多拷贝区域+DNA结构正常",50,"22q13.2","NM_001098",null,"rs137831|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v416",53,26,0.4906,"32630A","ACO2","chr22:41914593","c.1032+17C>T(exon8)","非编码区","rs203319",0.48,0.59,0.62,0.57,0.52,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",15767273,"婴儿大脑-视网膜退化症","AR",614559,5,3,2,1,"ACO2",1,84,"非编码区",16203,"0.5345=31/58","位于基因组单拷贝区域+DNA结构正常",50,"22q13.2","NM_001098",null,"rs203319|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v417",44,20,0.4545,"32630A","ACOT11","chr1:55060251","c.494C>T(exon6)","p.P165L","rs2304306",0.081,0.19,0.16,0.22,0.21,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非同义",12210,"0.4118=21/51","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161"]
["32630A(747)v418",69,33,0.4783,"32630A","ACOT11","chr1:55062960","c.636G>A(exon7)","p.M212I","rs2304305",0.03,0.091,0.1,0.083,0.11,0.13,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ACOT11",1,65,"非同义",12120,"0.4459=33/74","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161"]
["32630A(747)v419",45,31,0.6889,"32630A","ACOT11","chr1:55074922","c.*137G>A(exon16)","非编码区","rs2289016",0.24,0.37,0.4,0.34,0.35,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",14200,"0.6792=36/53","位于基因组多拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161"]
["32630A(747)v420",23,15,0.6522,"32630A","ACOT11","chr1:55075993","c.*1208G>A(exon16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,0.2,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",14200,"0.6538=17/26","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161"]
["32630A(747)v421",129,66,0.5116,"32630A","ACOT12","chr5:80631740","c.1129-20A>T(exon12)","非编码区","rs376835484",{"$nulls":4},1E-3,0,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ACOT12",1,160,"非编码区",16302,"0.4865=72/148","位于基因组单拷贝区域+DNA结构正常",134526,"5q14.1","NM_130767"]
["32630A(747)v422",141,141,1,"32630A","ACOT13","chr6:24687765","c.-145A>G(exon2)","非编码区","rs926529",0.8,0.87,0.88,0.85,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15514892;15717286",{"$nulls":3},5,null,1,0,"ACOT13",1,190,"非编码区",14200,"1.0000=173/173","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094"]
["32630A(747)v423",41,41,1,"32630A","ACOT2","chr14:74041748","c.983A>G(exon3)","p.H328R","rs149033118",{"$nulls":4},0.86,0.93,"纯合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"ACOT2",1,87,"非同义",12310,"1.0000=47/47","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821"]
["32630A(747)v424",22,22,1,"32630A","ACOT2","chr14:74042189","c.1424A>G(exon3)","p.H475R","rs7494",{"$nulls":4},0.78,0.8,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"ACOT2",1,87,"非同义",12320,"1.0000=24/24","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821"]
["32630A(747)v425",15,7,0.4667,"32630A","ACOT4","chr14:74058832","c.169C>T(exon1)","p.R57C","rs3742819",0.4,0.62,0.61,0.64,0.63,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOT4",1,100,"非同义",12220,"0.4706=8/17","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331"]
["32630A(747)v426",107,107,1,"32630A","ACOT4","chr14:74061968","c.876T>C(exon3)","p.I292I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOT4",1,100,"同义",13203,"1.0000=122/122","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331"]
["32630A(747)v427",100,100,1,"32630A","ACOT6","chr14:74083846","c.-33C>T(exon1)","非编码区","rs12891009",0.46,0.65,0.64,0.66,0.65,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACOT6",1,100,"非编码区",14200,"1.0000=115/115","位于基因组单拷贝区域+DNA结构正常",641372,"14q24.3","NM_001037162"]
["32630A(747)v428",5,5,1,"32630A","ACOT7","chr1:6453520-6453521","c.-62(exon1)_c.-61(exon1)insC","非编码区","rs76483502",null,1,1,1,1,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ACOT7",1,62,"非编码区",2430,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",11332,"1p36","NM_007274"]
["32630A(747)v429",70,70,1,"32630A","ACOX1","chr17:73949540","c.822C>G(exon7)","p.I274M","rs1135640",0.55,0.79,0.82,0.77,0.78,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",51,"17q25.1","NM_001185039"]
["32630A(747)v430",50,50,1,"32630A","ACOX2","chr3:58512237","c.1302T>C(exon10)","p.C434C","rs1127745",0.28,0.23,0.25,0.21,0.23,0.23,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,100,"同义",13203,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500"]
["32630A(747)v431",26,26,1,"32630A","ACOX2","chr3:58512375","c.1164A>G(exon10)","p.A388A","rs1127743",0.16,0.24,0.26,0.22,0.23,0.23,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,100,"同义",13203,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500"]
["32630A(747)v432",63,33,0.5238,"32630A","ACOX2","chr3:58516383","c.820-18C>T(exon8)","非编码区","rs4387990",0.22,0.077,0.081,0.073,0.12,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,100,"非编码区",16202,"0.5714=40/70","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500"]
["32630A(747)v433",44,44,1,"32630A","ACOX2","chr3:58520859","c.-26T>C(exon2)","非编码区","rs4681862",0.87,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,100,"非编码区",14200,"1.0000=46/46","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500"]
["32630A(747)v434",3,2,0.6667,"32630A","ACOX3","chr4:8368433","c.*255C>T(exon18)","非编码区","rs7809",0.26,0.31,0.32,0.31,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOX3",1,100,"非编码区",14200,"0.6667=2/3","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_003501"]
["32630A(747)v435",46,21,0.4565,"32630A","ACOX3","chr4:8368604","c.*84G>A(exon18)","非编码区","rs708244",0.27,0.31,0.31,0.31,0.34,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOX3",1,100,"非编码区",14200,"0.4364=24/55","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_003501"]
["32630A(747)v436",131,68,0.5191,"32630A","ACOXL","chr2:111598958","c.764C>T(exon10)","p.T255M","rs1554005",0.18,0.15,0.17,0.13,0.17,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOXL",1,150,"非同义",12210,"0.5137=75/146","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807"]
["32630A(747)v437",208,108,0.5192,"32630A","ACOXL","chr2:111850515","c.1514C>T(exon17)","p.P505L","rs17041850",0.074,0.26,0.3,0.22,0.25,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOXL",1,150,"非同义",12210,"0.4647=112/241","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807"]
["32630A(747)v438",46,46,1,"32630A","ACP1","chr2:264895","c.-70G>C(exon1)","非编码区","rs4854300",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACP1",1,150,"非编码区",14200,"1.0000=51/51","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_004300"]
["32630A(747)v439",67,38,0.5672,"32630A","ACP2","chr11:47270255","c.86G>A(exon1)","p.R29Q","rs2167079",0.52,0.75,0.79,0.71,0.72,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17357082;19060910","酸性磷酸酶缺乏症","AR",200950,5,3,1,1,"ACP2",1,80,"非同义",12220,"0.5769=45/78","位于基因组单拷贝区域+DNA结构正常",53,"11p11.2|11p12-p11","NM_001610"]
["32630A(747)v440",118,56,0.4746,"32630A","ACP6","chr1:147119273","c.1239C>T(exon10)","p.H413H","rs1344",0.48,0.39,0.43,0.34,0.32,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACP6",1,130,"同义",13203,"0.4653=67/144","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32630A(747)v441",91,91,1,"32630A","ACP6","chr1:147121977","c.946G>A(exon8)","p.V316M","rs6593795",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACP6",1,130,"非同义",12220,"1.0000=97/97","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32630A(747)v442",54,54,1,"32630A","ACP6","chr1:147124310","c.823A>C(exon7)","p.R275R","rs2153463",{"$nulls":4},0.7,0.71,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ACP6",1,130,"同义",13303,"0.9833=59/60","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32630A(747)v443",142,71,0.5,"32630A","ACP6","chr1:147131501","c.479+10T>A(exon3)","非编码区","rs34675044",0.26,0.099,0.11,0.087,0.095,0.094,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACP6",1,130,"非编码区",16203,"0.4935=76/154","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32630A(747)v444",7,5,0.7143,"32630A","ACP6","chr1:147142296","c.-126A>G(exon1)","非编码区","rs2883202",0.48,0.61,0.58,0.65,0.67,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACP6",1,130,"非编码区",14200,"0.6250=5/8","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32630A(747)v445",18,18,1,"32630A","ACPP","chr3:132086825","c.*159G>A(exon11)","非编码区","rs2198765",0.52,0.84,0.83,0.85,0.82,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACPP",1,160,"非编码区",14200,"1.0000=19/19","位于基因组单拷贝区域+DNA结构正常",55,"3q22.1","NM_001134194"]
["32630A(747)v446",80,80,1,"32630A","ACPT","chr19:51297825","c.973G>A(exon9)","p.A325T","rs55716643",0.33,0.68,0.67,0.68,0.65,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACPT",1,53,"非同义",12220,"1.0000=88/88","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068"]
["32630A(747)v447",79,79,1,"32630A","ACPT","chr19:51297826","c.974C>A(exon9)","p.A325D","rs55735528",0.33,0.68,0.67,0.68,0.65,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACPT",1,53,"非同义",12220,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068"]
["32630A(747)v448",19,19,1,"32630A","ACRBP","chr12:6747295","c.*153C>T(exon10)","非编码区","rs1045553",0.64,0.59,0.59,0.58,0.61,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16251468,{"$nulls":3},5,null,2,0,"ACRBP",1,91,"非编码区",14200,"1.0000=20/20","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489"]
["32630A(747)v449",34,34,1,"32630A","ACRBP","chr12:6747578","c.1510-8C>G(exon10)","非编码区","rs1882553",0.68,0.62,0.62,0.62,0.65,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACRBP",1,91,"非编码区",16202,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489"]
["32630A(747)v450",61,60,0.9836,"32630A","ACRC","chrX:70832741","c.1985C>T(exon13)","p.T662I","rs2280962",null,0.072,0.082,0.062,0.075,0.056,"半合子","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"ACRC",1,150,"非同义",12310,"0.9861=71/72","位于基因组单拷贝区域+DNA结构正常",93953,"Xq13.1","NM_052957"]
["32630A(747)v451",81,81,1,"32630A","ACSBG2","chr19:6151703","c.298-15C>T(exon4)","非编码区","rs7252466",0.6,0.7,0.74,0.65,0.64,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSBG2",1,120,"非编码区",16202,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",81616,"19p13.3","NM_030924"]
["32630A(747)v452",86,86,1,"32630A","ACSBG2","chr19:6156483","c.428T>C(exon5)","p.V143A","rs4807840",0.71,0.72,0.75,0.69,0.69,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSBG2",1,120,"非同义",12220,"1.0000=96/96","位于基因组单拷贝区域+DNA结构正常",81616,"19p13.3","NM_030924"]
["32630A(747)v453",20,20,1,"32630A","ACSL1","chr4:185678110","c.*169T>C(exon21)","非编码区","rs2292899",0.4,0.65,0.66,0.64,0.64,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23303383,{"$nulls":3},5,null,3,0,"ACSL1",1,150,"非编码区",14200,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995","rs2292899|\"Diabetes_mellitus_type_2_association_with\"|23303383"]
["32630A(747)v454",22,22,1,"32630A","ACSL1","chr4:185678118","c.*161G>C(exon21)","非编码区","rs4862413",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACSL1",1,150,"非编码区",14200,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995"]
["32630A(747)v455",86,86,1,"32630A","ACSL1","chr4:185686032","c.1407G>A(exon15)","p.L469L","rs2292898",0.83,0.93,0.94,0.92,0.93,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACSL1",1,150,"同义",13203,"1.0000=92/92","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995"]
["32630A(747)v456",125,59,0.472,"32630A","ACSL3","chr2:223781018","c.379-19T>A(exon5)","非编码区","rs35780866",0.4,0.22,0.2,0.24,0.69,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSL3",1,240,"非编码区",16202,"0.4779=65/136","位于基因组单拷贝区域+DNA结构正常",2181,"2q34-q35","NM_004457"]
["32630A(747)v457",88,88,1,"32630A","ACSL3","chr2:223787559","c.1080+10G>A(exon9)","非编码区","rs11891410",0.9,0.96,0.96,0.96,0.96,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSL3",1,240,"非编码区",16203,"1.0000=95/95","位于基因组单拷贝区域+DNA结构正常",2181,"2q34-q35","NM_004457"]
["32630A(747)v458",154,154,1,"32630A","ACSL5","chr10:114186624","c.1911+7G>A(exon20)","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%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSL5",1,150,"非编码区",16203,"1.0000=181/181","位于基因组单拷贝区域+DNA结构正常",51703,"10q25.1-q25.2","NM_203380"]
["32630A(747)v459",110,110,1,"32630A","ACSL6","chr5:131312327","c.990+14C>A(exon10)","非编码区","rs370652",0.9,0.92,0.93,0.91,0.9,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSL6",1,110,"非编码区",16203,"1.0000=132/132","位于基因组单拷贝区域+DNA结构正常",23305,"5q31","NM_015256"]
["32630A(747)v460",138,138,1,"32630A","ACSM1","chr16:20635418","c.1647G>A(exon12)","p.K549K","rs3743690",0.18,0.5,0.46,0.53,0.48,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACSM1",1,130,"剪切位点",13201,"1.0000=166/166","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956"]
["32630A(747)v461",69,69,1,"32630A","ACSM1","chr16:20636814","c.1458C>T(exon11)","p.S486S","rs2301672",0.18,0.5,0.46,0.53,0.47,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACSM1",1,130,"同义",13203,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956"]
["32630A(747)v462",89,89,1,"32630A","ACSM1","chr16:20638576","c.1362T>A(exon10)","p.G454G","rs1692729",0.61,0.86,0.83,0.9,0.86,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACSM1",1,130,"同义",13203,"1.0000=97/97","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956"]
["32630A(747)v463",119,119,1,"32630A","ACSM2A","chr16:20471450","c.14G>A(exon3)","p.R5Q","rs59292608",0.17,0.36,0.34,0.38,0.38,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACSM2A",1,260,"非同义",12220,"1.0000=132/132","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32630A(747)v464",190,172,0.9053,"32630A","ACSM2A","chr16:20476852","c.191T>C(exon4)","p.L64P","rs7187246",0.51,0.73,0.68,0.78,0.6,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACSM2A",1,260,"非同义",12220,"0.9155=195/213","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32630A(747)v465",143,143,1,"32630A","ACSM2A","chr16:20480818","c.389-16T>C(exon5)","非编码区","rs28615302",0.48,0.74,0.68,0.81,0.76,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACSM2A",1,260,"非编码区",16202,"1.0000=165/165","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32630A(747)v466",264,264,1,"32630A","ACSM2A","chr16:20488696","c.1104A>G(exon10)","p.L368L","rs1700805",0.48,0.74,0.68,0.81,0.56,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACSM2A",1,260,"同义",13203,"1.0000=320/320","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32630A(747)v467",114,114,1,"32630A","ACSM2B","chr16:20570661","c.286A>G(exon4)","p.I96V","rs8056693",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSM2B",1,270,"非同义",12220,"1.0000=131/131","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32630A(747)v468",161,161,1,"32630A","ACSM2B","chr16:20576048","c.120G>T(exon3)","p.V40V","rs112352583",0.27,0.69,0.7,0.69,0.68,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSM2B",1,270,"同义",13203,"1.0000=193/193","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32630A(747)v469",91,91,1,"32630A","ACSM4","chr12:7463241","c.519A>T(exon3)","p.P173P","rs7968241",null,0.39,0.38,0.4,0.38,0.38,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACSM4",1,180,"同义",13303,"1.0000=102/102","位于基因组多拷贝区域+DNA结构正常",341392,"12p13.31","NM_001080454"]
["32630A(747)v470",38,13,0.3421,"32630A","ACSM5","chr16:20423000","c.194G>A(exon2)","p.R65Q","rs9928053",0.08,0.055,0.043,0.068,0.054,0.044,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12220,"0.3125=15/48","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v471",108,60,0.5556,"32630A","ACSM5","chr16:20430678","c.544G>A(exon4)","p.E182K","rs7192210",0.099,0.05,0.038,0.063,0.054,0.043,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12220,"0.5714=68/119","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v472",101,47,0.4653,"32630A","ACSM5","chr16:20432605","c.649A>G(exon5)","p.M217V","rs59025904",0.14,0.058,0.052,0.063,0.059,0.048,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12220,"0.5000=59/118","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v473",78,34,0.4359,"32630A","ACSM5","chr16:20435262","c.792T>G(exon6)","p.S264S","rs12103211",0.15,0.058,0.052,0.063,0.059,0.048,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"同义",13203,"0.4458=37/83","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v474",66,32,0.4848,"32630A","ACSM5","chr16:20435314","c.844C>T(exon6)","p.L282F","rs73545426",0.066,0.05,0.038,0.063,0.054,0.043,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12220,"0.5070=36/71","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v475",99,99,1,"32630A","ACSM5","chr16:20441053","c.1055C>G(exon8)","p.P352R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12210,"1.0000=118/118","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v476",114,114,1,"32630A","ACSM5","chr16:20441084","c.1086T>C(exon8)","p.T362T","rs8063682",0.54,0.72,0.67,0.78,0.76,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"同义",13203,"1.0000=134/134","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v477",147,147,1,"32630A","ACSM5","chr16:20448520","c.1436+19T>C(exon11)","非编码区","rs7499667",0.46,0.73,0.68,0.78,0.75,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非编码区",16203,"1.0000=166/166","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v478",6,6,1,"32630A","ACSM5","chr16:20452097","c.*348T>C(exon14)","非编码区","rs12599141",0.5,0.73,0.69,0.78,0.8,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非编码区",14200,"1.0000=6/6","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32630A(747)v479",29,29,1,"32630A","ACSS1","chr20:25038484","c.255C>A(exon1)","p.T85T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSS1",0.96,75,"同义",13203,"1.0000=29/29","位于基因组单拷贝区域+DNA结构正常",84532,"20p11.23-p11.21","NM_032501"]
["32630A(747)v480",215,118,0.5488,"32630A","ACSS2","chr20:33470694","c.276C>T(exon2)","p.F92F","rs4911163",0.51,0.44,0.47,0.41,0.43,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20403199,{"$nulls":3},5,null,2,0,"ACSS2",1,120,"同义",13203,"0.5703=142/249","位于基因组单拷贝区域+DNA结构正常",55902,"20q11.22","NM_001076552"]
["32630A(747)v481",97,49,0.5052,"32630A","ACSS2","chr20:33509275","c.1449+10G>A(exon12)","非编码区","rs3818273",0.51,0.44,0.47,0.41,null,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSS2",1,120,"非编码区",16203,"0.5000=53/106","位于基因组单拷贝区域+DNA结构正常",55902,"20q11.22","NM_001076552"]
["32630A(747)v482",153,78,0.5098,"32630A","ACSS3","chr12:81627238","c.1707C>T(exon13)","p.G569G","rs1921038",0.18,0.23,0.25,0.21,0.2,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSS3",1,210,"同义",13203,"0.5087=88/173","位于基因组单拷贝区域+DNA结构正常",79611,"12q21.31","NM_024560"]
["32630A(747)v483",59,27,0.4576,"32630A","ACTA2","chr10:90701645","c.370-19T>C(exon5)","非编码区","rs714887",0.17,0.28,0.26,0.3,null,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性胸主动脉瘤6型",null,611788,5,2,3,3,"ACTA2",1,150,"非编码区",16202,"0.4462=29/65","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945",null,"rs714887|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v483",59,27,0.4576,"32630A","ACTA2","chr10:90701645","c.370-19T>C(exon5)","非编码区","rs714887",0.17,0.28,0.26,0.3,null,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","多系统平滑肌功能障碍综合征","AD",613834,5,1,3,3,"ACTA2",1,150,"非编码区",16202,"0.4462=29/65","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945",null,"rs714887|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v483",59,27,0.4576,"32630A","ACTA2","chr10:90701645","c.370-19T>C(exon5)","非编码区","rs714887",0.17,0.28,0.26,0.3,null,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","烟雾病5型",null,614042,5,2,3,3,"ACTA2",1,150,"非编码区",16202,"0.4462=29/65","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945",null,"rs714887|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v484",6,4,0.6667,"32630A","ACTA2","chr10:90750909","c.-237G>A(exon1)","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%，可能为多态性突变",24669260,"家族性胸主动脉瘤6型",null,611788,5,2,3,3,"ACTA2",1,150,"非编码区",14200,"0.5714=4/7","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32630A(747)v484",6,4,0.6667,"32630A","ACTA2","chr10:90750909","c.-237G>A(exon1)","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%，可能为多态性突变",24669260,"多系统平滑肌功能障碍综合征","AD",613834,5,1,3,3,"ACTA2",1,150,"非编码区",14200,"0.5714=4/7","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32630A(747)v484",6,4,0.6667,"32630A","ACTA2","chr10:90750909","c.-237G>A(exon1)","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%，可能为多态性突变",24669260,"烟雾病5型",null,614042,5,2,3,3,"ACTA2",1,150,"非编码区",14200,"0.5714=4/7","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32630A(747)v485",4,4,1,"32630A","ACTA2","chr10:90750982","c.-310A>C(exon1)","非编码区","rs7079111",0.94,1,1,1,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性胸主动脉瘤6型",null,611788,5,1,3,3,"ACTA2",1,150,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32630A(747)v485",4,4,1,"32630A","ACTA2","chr10:90750982","c.-310A>C(exon1)","非编码区","rs7079111",0.94,1,1,1,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"多系统平滑肌功能障碍综合征","AD",613834,5,1,3,3,"ACTA2",1,150,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32630A(747)v485",4,4,1,"32630A","ACTA2","chr10:90750982","c.-310A>C(exon1)","非编码区","rs7079111",0.94,1,1,1,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"烟雾病5型",null,614042,5,1,3,3,"ACTA2",1,150,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32630A(747)v486",7,4,0.5714,"32630A","ACTB","chr7:5567112","c.*267G>A(exon6)","非编码区","rs386420777",0.32,0.22,0.2,0.23,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Baraitser-Winter综合征1","AD",243310,5,1,2,2,"ACTB",1,93,"非编码区",14200,"0.6250=5/8","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101"]
["32630A(747)v486",7,4,0.5714,"32630A","ACTB","chr7:5567112","c.*267G>A(exon6)","非编码区","rs386420777",0.32,0.22,0.2,0.23,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"青少年肌张力障碍","AD",607371,5,1,2,2,"ACTB",1,93,"非编码区",14200,"0.6250=5/8","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101"]
["32630A(747)v487",34,19,0.5588,"32630A","ACTB","chr7:5568366","c.364-16T>C(exon4)","非编码区","rs852423",0.48,0.25,0.24,0.26,0.29,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24846176,"Baraitser-Winter综合征1","AD",243310,5,1,2,2,"ACTB",1,93,"非编码区",16202,"0.5263=20/38","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101"]
["32630A(747)v487",34,19,0.5588,"32630A","ACTB","chr7:5568366","c.364-16T>C(exon4)","非编码区","rs852423",0.48,0.25,0.24,0.26,0.29,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24846176,"青少年肌张力障碍","AD",607371,5,1,2,2,"ACTB",1,93,"非编码区",16202,"0.5263=20/38","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101"]
["32630A(747)v488",79,79,1,"32630A","ACTG1","chr17:79478019","c.918C>T(exon5)","p.Y306Y","rs1139405",0.76,0.87,0.88,0.87,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体显性遗传性耳聋20型","AD",604717,5,1,2,2,"ACTG1",1,82,"同义",13203,"1.0000=87/87","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954",null,"rs1139405|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v488",79,79,1,"32630A","ACTG1","chr17:79478019","c.918C>T(exon5)","p.Y306Y","rs1139405",0.76,0.87,0.88,0.87,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"Baraitser-Winter综合征2",null,614583,5,1,2,2,"ACTG1",1,82,"同义",13203,"1.0000=87/87","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954",null,"rs1139405|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v489",76,75,0.9868,"32630A","ACTG1","chr17:79478916","c.363+13C>A(exon3)","非编码区","rs9910792",0.56,0.87,0.88,0.86,0.88,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体显性遗传性耳聋20型","AD",604717,5,1,2,2,"ACTG1",1,82,"非编码区",16203,"0.9886=87/88","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954",null,"rs9910792|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v489",76,75,0.9868,"32630A","ACTG1","chr17:79478916","c.363+13C>A(exon3)","非编码区","rs9910792",0.56,0.87,0.88,0.86,0.88,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"Baraitser-Winter综合征2",null,614583,5,1,2,2,"ACTG1",1,82,"非编码区",16203,"0.9886=87/88","位于基因组多拷贝区域+DNA结构正常",71,"17q25","NM_001199954",null,"rs9910792|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v490",48,19,0.3958,"32630A","ACTG2","chr2:74128433","c.-6C>T(exon2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,0.57,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"非编码区",14200,"0.4118=21/51","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32630A(747)v491",153,152,0.9935,"32630A","ACTG2","chr2:74129474","c.127-13T>C(exon3)","非编码区","rs1726025",0.56,0.58,0.6,0.56,0.52,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"非编码区",16202,"0.9944=178/179","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32630A(747)v492",136,132,0.9706,"32630A","ACTG2","chr2:74135797","c.256-3T>C(exon4)","非编码区","rs702461",0.58,0.59,0.61,0.57,0.52,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"非编码区",16202,"0.9758=161/165","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32630A(747)v493",166,163,0.9819,"32630A","ACTG2","chr2:74135898","c.354A>G(exon4)","p.E118E","rs756128",0.57,0.59,0.61,0.57,0.52,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"同义",13203,"0.9845=190/193","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32630A(747)v494",81,81,1,"32630A","ACTG2","chr2:74140789","c.613+16T>C(exon6)","非编码区","rs891698",0.6,0.6,0.62,0.57,0.53,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"非编码区",16203,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32630A(747)v495",5,5,1,"32630A","ACTL10","chr20:32255233","c.-71T>C(exon1)","非编码区","rs3746459",0.71,0.8,0.79,0.81,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL10",1,18,"非编码区",14200,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",170487,"20q11.22","NM_001024675"]
["32630A(747)v496",173,173,1,"32630A","ACTL6A","chr3:179298999","c.891C>T(exon11)","p.D297D","rs1132429",null,0.91,0.93,0.89,0.91,0.89,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACTL6A",1,280,"同义",13303,"1.0000=199/199","位于基因组单拷贝区域+DNA结构正常",86,"3q26.33","NM_178042"]
["32630A(747)v497",13,13,1,"32630A","ACTL6B","chr7:100240771","c.*98T>A(exon14)","非编码区","rs1052897",0.89,0.91,0.9,0.91,0.89,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL6B",1,70,"非编码区",14200,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",51412,"7q22","NM_016188"]
["32630A(747)v498",27,27,1,"32630A","ACTL7A","chr9:111625913","c.*3A>G(exon1)","非编码区","rs4978370",0.88,0.84,0.82,0.86,0.85,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL7A",1,93,"非编码区",14200,"1.0000=32/32","位于基因组单拷贝区域+DNA结构正常",10881,"9q31","NM_006687"]
["32630A(747)v499",57,57,1,"32630A","ACTL8","chr1:18149566","c.63C>A(exon2)","p.G21G","rs2296035",0.48,0.68,0.7,0.67,0.65,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL8",1,55,"同义",13203,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812"]
["32630A(747)v500",28,16,0.5714,"32630A","ACTL9","chr19:8808373","c.679C>A(exon1)","p.H227N","rs4804079",0.6,0.68,0.66,0.7,0.68,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL9",1,29,"非同义",12220,"0.5862=17/29","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525"]
["32630A(747)v501",41,41,1,"32630A","ACTL9","chr19:8808900","c.152T>C(exon1)","p.V51A","rs10410943",null,0.85,0.86,0.84,0.87,0.86,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"ACTL9",1,29,"非同义",12320,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525"]
["32630A(747)v502",32,32,1,"32630A","ACTL9","chr19:8808942","c.110T>C(exon1)","p.F37S","rs2340550",0.79,0.85,0.86,0.84,0.87,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL9",1,29,"非同义",12220,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525"]
["32630A(747)v503",53,53,1,"32630A","ACTN1","chr14:69376658","c.515+14T>G(exon5)","非编码区","rs743128",0.88,1,1,0.99,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",16203,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32630A(747)v504",25,25,1,"32630A","ACTN1","chr14:69376775","c.428-16A>G(exon5)","非编码区","rs872810",0.32,0.63,0.67,0.6,0.64,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",16202,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32630A(747)v505",165,165,1,"32630A","ACTN1","chr14:69378863","c.427+10T>C(exon4)","非编码区","rs2070280",0.32,0.63,0.66,0.61,0.64,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",16203,"1.0000=181/181","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32630A(747)v506",79,79,1,"32630A","ACTN1","chr14:69392264","c.220+11A>C(exon2)","非编码区","rs4899272",0.8,0.98,0.99,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",16203,"0.9888=88/89","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32630A(747)v507",12,12,1,"32630A","ACTN1","chr14:69445858-69445859","c.-86(exon1)_c.-85(exon1)insAGCCC","非编码区","rs61251565",0.44,0.81,0.79,0.84,0.16,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",2420,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32630A(747)v508",168,168,1,"32630A","ACTN2","chr1:236882303","c.351T>C(exon3)","p.I117I","rs1341864",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;24938736","扩张型心肌病1AA型",null,612158,5,1,4,1,"ACTN2",1,120,"同义",13203,"1.0000=188/188","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103",null,"rs1341864|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v509",175,175,1,"32630A","ACTN2","chr1:236883421","c.378C>T(exon4)","p.N126N","rs1341863",0.92,0.98,0.99,0.97,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;24938736","扩张型心肌病1AA型",null,612158,5,1,4,1,"ACTN2",1,120,"同义",13203,"1.0000=197/197","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103",null,"rs1341863|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v510",50,50,1,"32630A","ACTN2","chr1:236902594","c.877-8C>G(exon10)","非编码区","rs2288601",0.77,0.77,0.77,0.77,0.78,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;19335888;24938736","扩张型心肌病1AA型",null,612158,5,1,4,1,"ACTN2",1,120,"非编码区",16201,"1.0000=51/51","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103",null,"rs2288601|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v511",25,12,0.48,"32630A","ACTN2","chr1:236926030","c.*111A>G(exon21)","非编码区","rs1051251",0.35,0.37,0.35,0.38,0.47,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"扩张型心肌病1AA型",null,612158,5,2,4,1,"ACTN2",1,120,"非编码区",14200,"0.4643=13/28","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103"]
["32630A(747)v512",97,53,0.5464,"32630A","ACTN4","chr19:39196745","c.546C>T(exon5)","p.N182N","rs3745859",0.34,0.39,0.41,0.37,0.4,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"局灶性节段性肾小球硬化症1型",null,603278,5,2,1,1,"ACTN4",1,77,"同义",13203,"0.5524=58/105","位于基因组单拷贝区域+DNA结构正常",81,"19q13","NM_004924"]
["32630A(747)v513",32,12,0.375,"32630A","ACTR10","chr14:58666882","c.-54A>G(exon1)","非编码区","rs61975916",0.38,0.38,0.41,0.33,0.36,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACTR10",1,260,"非编码区",14200,"0.4211=16/38","位于基因组单拷贝区域+DNA结构正常",55860,"14q23.1","NM_018477"]
["32630A(747)v514",228,120,0.5263,"32630A","ACTR10","chr14:58669661-58669661","c.150+16(exon2)delT","非编码区","rs75291796",0.36,0.37,0.41,0.33,0.047,0.36,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ACTR10",1,260,"非编码区",2500,"0.5147=140/272","位于基因组单拷贝区域+DNA结构正常",55860,"14q23.1","NM_018477"]
["32630A(747)v515",10,4,0.4,"32630A","ACTR1A","chr10:104240438","c.*182T>C(exon11)","非编码区","rs13287",0.32,0.24,0.21,0.26,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1A",1,100,"非编码区",14200,"0.3636=4/11","位于基因组多拷贝区域+DNA结构正常",10121,"10q24.32","NM_005736"]
["32630A(747)v516",24,10,0.4167,"32630A","ACTR1A","chr10:104240498","c.*122T>C(exon11)","非编码区","rs12162",0.32,0.24,0.21,0.26,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1A",1,100,"非编码区",14200,"0.3929=11/28","位于基因组多拷贝区域+DNA结构正常",10121,"10q24.32","NM_005736"]
["32630A(747)v517",16,10,0.625,"32630A","ACTR1A","chr10:104244139","c.441-6C>A(exon6)","非编码区","rs2296582",0.27,0.24,0.21,0.26,null,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1A",1,100,"非编码区",16202,"0.6111=11/18","位于基因组单拷贝区域+DNA结构正常",10121,"10q24.32","NM_005736"]
["32630A(747)v518",53,22,0.4151,"32630A","ACTR1B","chr2:98273290","c.*31G>A(exon11)","非编码区","rs11547232",0.3,0.31,0.26,0.35,0.32,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,81,"非编码区",14200,"0.4068=24/59","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735"]
["32630A(747)v519",82,34,0.4146,"32630A","ACTR1B","chr2:98273661","c.988-6T>C(exon10)","非编码区","rs2290124",0.53,0.38,0.33,0.43,0.4,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,81,"非编码区",16202,"0.4200=42/100","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735"]
["32630A(747)v520",66,28,0.4242,"32630A","ACTR1B","chr2:98274527","c.804C>G(exon8)","p.V268V","rs1042705",0.53,0.38,0.33,0.43,0.4,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,81,"同义",13203,"0.4058=28/69","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735"]
["32630A(747)v521",111,63,0.5676,"32630A","ACTR2","chr2:65481008","c.600+10A>C(exon6)","非编码区","rs268871",0.79,0.81,0.8,0.82,0.82,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",16203,"0.5891=76/129","位于基因组单拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32630A(747)v522",159,78,0.4906,"32630A","ACTR2","chr2:65488538","c.896+12G>A(exon8)","非编码区","rs268862",0.81,0.81,0.8,0.82,0.82,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",16203,"0.4949=97/196","位于基因组单拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32630A(747)v523",135,66,0.4889,"32630A","ACTR2","chr2:65495887","c.*19G>A(exon10)","非编码区","rs268875",0.81,0.73,0.72,0.73,0.74,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",14200,"0.5168=77/149","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32630A(747)v524",33,19,0.5758,"32630A","ACTR2","chr2:65496018","c.*150C>G(exon10)","非编码区","rs11424",0.4,0.74,0.74,0.75,0.74,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",14200,"0.5676=21/37","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32630A(747)v525",22,9,0.4091,"32630A","ACTR2","chr2:65496058","c.*190A>G(exon10)","非编码区","rs17038564",0.11,0.2,0.2,0.19,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",14200,"0.4167=10/24","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32630A(747)v526",5,3,0.6,"32630A","ACTR2","chr2:65496144","c.*276A>G(exon10)","非编码区","rs190577",0.81,0.8,0.79,0.81,0.78,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",14200,"0.6000=3/5","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32630A(747)v527",4,2,0.5,"32630A","ACTR2","chr2:65496187","c.*319G>A(exon10)","非编码区","rs12560",0.4,0.74,0.74,0.75,0.73,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",14200,"0.5000=2/4","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32630A(747)v528",11,4,0.3636,"32630A","ACTR3B","chr7:152456909","c.-59C>T(exon1)","非编码区","rs66966963",0.45,0.69,0.7,0.67,0.69,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTR3B",1,220,"非编码区",14200,"0.4000=6/15","位于基因组单拷贝区域+DNA结构正常",57180,"7q36.1","NM_020445"]
["32630A(747)v529",137,137,1,"32630A","ACTR3C","chr7:149981830","c.564+12A>C(exon6)","非编码区","rs4725334",0.93,0.99,0.99,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTR3C",1,270,"非编码区",16203,"1.0000=164/164","位于基因组多拷贝区域+DNA结构正常",653857,"7q36.1","NM_001164458"]
["32630A(747)v530",233,108,0.4635,"32630A","ACTR6","chr12:100594665","c.36C>T(exon1)","p.N12N","rs2303626",0.0084,0.055,0.062,0.049,0.047,0.043,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACTR6",1,260,"同义",13103,"0.4491=119/265","位于基因组单拷贝区域+DNA结构正常",64431,"12q23.1","NM_022496"]
["32630A(747)v531",87,87,1,"32630A","ACTR8","chr3:53905308","c.1518A>G(exon11)","p.G506G","rs1046677",0.69,0.94,0.93,0.96,0.92,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR8",1,140,"同义",13203,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32630A(747)v532",139,139,1,"32630A","ACTR8","chr3:53906513","c.1200C>T(exon10)","p.I400I","rs4687757",0.69,0.94,0.93,0.96,0.92,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR8",1,140,"同义",13203,"1.0000=158/158","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32630A(747)v533",71,37,0.5211,"32630A","ACTR8","chr3:53910118","c.779-11T>C(exon7)","非编码区","rs744277",0.0078,0,0,0,0.62,0.62,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,7,0,"ACTR8",1,140,"非编码区",16102,"0.5333=40/75","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32630A(747)v534",71,29,0.4085,"32630A","ACTR8","chr3:53910122","c.779-15C>T(exon7)","非编码区","rs62752960",0.31,0.32,0.34,0.31,0.86,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR8",1,140,"非编码区",16202,"0.4000=30/75","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32630A(747)v535",71,33,0.4648,"32630A","ACTR8","chr3:53911783","c.406-5T>C(exon4)","非编码区","rs2276842",0.14,0.21,0.21,0.21,0.24,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR8",1,140,"非编码区",16202,"0.4533=34/75","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32630A(747)v536",167,83,0.497,"32630A","ACTR8","chr3:53914093","c.167C>T(exon2)","p.T56I","rs3733082",0.11,0.094,0.1,0.087,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR8",1,140,"非同义",12220,"0.5052=97/192","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32630A(747)v537",26,13,0.5,"32630A","ACTR8","chr3:53916130","c.-2T>C(exon1)","非编码区","rs2276845",0.37,0.5,0.48,0.53,0.49,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR8",1,140,"非编码区",14200,"0.5000=14/28","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32630A(747)v538",85,51,0.6,"32630A","ACTRT2","chr1:2938265","c.15C>T(exon1)","p.H5H","rs4576609",0.2,0.45,0.43,0.48,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTRT2",1,71,"同义",13203,"0.5922=61/103","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431"]
["32630A(747)v539",60,34,0.5667,"32630A","ACTRT2","chr1:2938408-2938410","c.158(exon1)_c.159(exon1)delAGA","p.Q53Qfs*32","rs4013154",0.11,0.23,0.2,0.27,0.017,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTRT2",1,71,"移码",2120,"0.5972=43/72","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431"]
["32630A(747)v540",59,24,0.4068,"32630A","ACTRT2","chr1:2938697","c.447T>G(exon1)","p.S149S","rs3795262",0.21,0.45,0.43,0.48,0.42,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTRT2",1,71,"同义",13203,"0.5000=36/72","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431"]
["32630A(747)v541",51,51,1,"32630A","ACTRT3","chr3:169486144","c.201-6T>C(exon2)","非编码区","rs9822885",0.43,0.7,0.68,0.72,0.67,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTRT3",1,120,"非编码区",16202,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487"]
["32630A(747)v542",15,15,1,"32630A","ACTRT3","chr3:169487437","c.-129C>T(exon1)","非编码区","rs12637184",0.27,0.56,0.53,0.59,0.48,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTRT3",1,120,"非编码区",14200,"1.0000=15/15","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487"]
["32630A(747)v543",10,10,1,"32630A","ACTRT3","chr3:169487501","c.-193A>G(exon1)","非编码区","rs9811216",0.38,0.7,0.68,0.72,0.66,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTRT3",1,120,"非编码区",14200,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487"]
["32630A(747)v544",21,21,1,"32630A","ACVR1B","chr12:52345498-52345500","c.-30(exon1)_c.-28(exon1)delGCG","非编码区","rs10540557",0.85,0.97,0.97,0.98,0.29,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胰腺癌",null,260350,5,1,2,1,"ACVR1B",1,88,"非编码区",2420,"1.0000=22/22","位于基因组单拷贝区域+简单重复结构",91,"12q13","NM_020328"]
["32630A(747)v545",55,55,1,"32630A","ACVR1B","chr12:52369300","c.331+12C>T(exon2)","非编码区","rs2242106",0.29,0.29,0.28,0.3,0.37,0.32,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胰腺癌",null,260350,5,1,2,1,"ACVR1B",1,88,"非编码区",16203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",91,"12q13","NM_020328"]
["32630A(747)v546",209,209,1,"32630A","ACVR1C","chr2:158395079","c.1356+6G>C(exon8)","非编码区","rs7576514",0.84,0.92,0.95,0.9,0.93,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACVR1C",1,180,"非编码区",16202,"1.0000=233/233","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_145259"]
["32630A(747)v547",118,118,1,"32630A","ACVR1C","chr2:158401137","c.776-13A>G(exon5)","非编码区","rs10432556",0.73,0.92,0.94,0.89,0.93,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACVR1C",1,180,"非编码区",16202,"1.0000=138/138","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_145259"]
["32630A(747)v548",39,10,0.2564,"32630A","ACVR1","chr2:158626980","c.690G>A(exon7)","p.E230E","rs1146031",0.91,0.98,0.98,0.99,0.97,0.97,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18781190;19299629;23644028","进行性骨化性纤维发育不良","AD",135100,5,1,2,1,"ACVR1",1,160,"同义",13203,"0.2727=12/44","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105"]
["32630A(747)v549",48,48,1,"32630A","ACVR1","chr2:158636910","c.270C>T(exon4)","p.A90A","rs2227861",0.65,0.91,0.91,0.91,0.93,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18781190;19299629","进行性骨化性纤维发育不良","AD",135100,5,1,2,1,"ACVR1",1,160,"同义",13203,"1.0000=51/51","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105"]
["32630A(747)v550",180,180,1,"32630A","ACVR2A","chr2:148657117","c.354G>A(exon3)","p.P118P","rs1128919",0.35,0.48,0.52,0.44,0.52,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19126782,{"$nulls":3},5,null,1,0,"ACVR2A",1,250,"同义",13203,"1.0000=206/206","位于基因组单拷贝区域+DNA结构正常",92,"2q22.3","NM_001616"]
["32630A(747)v551",68,40,0.5882,"32630A","ACVR2B","chr3:38519424","c.333A>G(exon3)","p.E111E","rs2070489",0.48,0.45,0.46,0.44,0.45,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体遗传的内脏异位4型",null,613751,5,2,3,1,"ACVR2B",1,79,"同义",13203,"0.6000=45/75","位于基因组单拷贝区域+DNA结构正常",93,"3p22","NM_001106"]
["32630A(747)v552",73,33,0.4521,"32630A","ACVR2B","chr3:38521156","c.811-13T>C(exon7)","非编码区","rs13097628",0.36,0.26,0.28,0.24,0.24,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体遗传的内脏异位4型",null,613751,5,2,3,1,"ACVR2B",1,79,"非编码区",16202,"0.4634=38/82","位于基因组单拷贝区域+DNA结构正常",93,"3p22","NM_001106"]
["32630A(747)v553",126,65,0.5159,"32630A","ACVR2B","chr3:38524742","c.1458C>T(exon11)","p.N486N","rs1046048",0.35,0.26,0.28,0.24,0.25,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体遗传的内脏异位4型",null,613751,5,2,3,1,"ACVR2B",1,79,"同义",13203,"0.4966=72/145","位于基因组单拷贝区域+DNA结构正常",93,"3p22","NM_001106"]
["32630A(747)v554",20,20,1,"32630A","ACY3","chr11:67414492","c.23G>A(exon3)","p.R8Q","rs948445",0.72,0.78,0.79,0.78,0.77,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACY3",1,71,"非同义",12220,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",91703,"11q13.2","NM_080658"]
["32630A(747)v555",4,4,1,"32630A","ACY3","chr11:67415054","c.-88G>A(exon2)","非编码区","rs2514036",0.8,0.78,0.79,0.78,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACY3",1,71,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",91703,"11q13.2","NM_080658"]
["32630A(747)v556",67,67,1,"32630A","ACYP1","chr14:75520065","c.*293A>G(exon4)","非编码区","rs7303",0.5,0.83,0.82,0.83,0.84,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20386703,{"$nulls":3},5,null,1,0,"ACYP1",1,130,"非编码区",14200,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",97,"14q24.3","NM_203488"]
["32630A(747)v557",12,8,0.6667,"32630A","ADAD2","chr16:84224805","c.-32G>C(exon1)","非编码区","rs8044351",0.66,0.62,0.59,0.65,0.56,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"非编码区",14200,"0.5714=8/14","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32630A(747)v558",16,9,0.5625,"32630A","ADAD2","chr16:84224967","c.131G>A(exon1)","p.G44E","rs8044695",0.69,0.71,0.67,0.74,0.7,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"非同义",12220,"0.5882=10/17","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32630A(747)v559",27,13,0.4815,"32630A","ADAD2","chr16:84229436","c.1314G>A(exon8)","p.S438S","rs62049905",0.31,0.27,0.22,0.33,0.26,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"同义",13203,"0.4643=13/28","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32630A(747)v560",25,25,1,"32630A","ADAD2","chr16:84229559","c.1437T>C(exon8)","p.S479S","rs2303238",0.81,0.71,0.69,0.73,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"同义",13203,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32630A(747)v561",28,17,0.6071,"32630A","ADAD2","chr16:84229580","c.1458C>T(exon8)","p.A486A","rs2303239",0.29,0.3,0.25,0.34,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"同义",13203,"0.6129=19/31","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32630A(747)v562",27,16,0.5926,"32630A","ADAD2","chr16:84230376","c.1893+3T>C(exon10)","非编码区","rs2303242",0.58,0.46,0.49,0.43,0.46,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"非编码区",16201,"0.6452=20/31","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32630A(747)v563",3,2,0.6667,"32630A","ADAL","chr15:43622916","c.-530C>T(exon1)","非编码区","rs3742971",0.4,0.5,0.48,0.53,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAL",1,190,"非编码区",14200,"0.6667=2/3","位于基因组单拷贝区域+DNA结构正常",161823,"15q15.3","NM_001159280"]
["32630A(747)v564",194,108,0.5567,"32630A","ADAL","chr15:43632549","c.342T>C(exon7)","p.T114T","rs2278857",0.54,0.5,0.48,0.53,0.48,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAL",1,190,"同义",13202,"0.5670=127/224","位于基因组单拷贝区域+DNA结构正常",161823,"15q15.3","NM_001159280"]
["32630A(747)v565",8,4,0.5,"32630A","ADAL","chr15:43644310","c.*167A>G(exon12)","非编码区","rs79531962",0.031,0.13,0.13,0.13,0.11,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ADAL",1,190,"非编码区",14100,"0.5556=5/9","位于基因组单拷贝区域+DNA结构正常",161823,"15q15.3","NM_001159280"]
["32630A(747)v566",35,35,1,"32630A","ADAM11","chr17:42851729","c.1059C>T(exon12)","p.H353H","rs35936481",0.65,0.78,0.77,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32630A(747)v567",26,26,1,"32630A","ADAM11","chr17:42852604","c.1245G>T(exon15)","p.S415S","rs1558083",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32630A(747)v568",26,26,1,"32630A","ADAM11","chr17:42852610","c.1251T>C(exon15)","p.C417C","rs1558084",0.9,0.87,0.87,0.87,0.88,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32630A(747)v569",48,48,1,"32630A","ADAM11","chr17:42854610","c.1758T>C(exon21)","p.S586S","rs8075210",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32630A(747)v570",39,39,1,"32630A","ADAM11","chr17:42855248","c.2070+17T>C(exon23)","非编码区","rs2070603",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"非编码区",16203,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32630A(747)v571",75,75,1,"32630A","ADAM11","chr17:42855554","c.2220T>C(exon25)","p.I740I","rs2070605",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32630A(747)v572",87,87,1,"32630A","ADAM12","chr10:127724778","c.2475T>C(exon21)","p.A825A","rs1044122",0.27,0.45,0.47,0.44,0.38,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM12",1,130,"同义",13203,"1.0000=98/98","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474"]
["32630A(747)v573",96,56,0.5833,"32630A","ADAM12","chr10:127737918","c.1830A>T(exon16)","p.G610G","rs184387932",0.0004,0.0048,0.0095,0,0.0057,0.0065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ADAM12",1,130,"同义",13103,"0.6058=63/104","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474"]
["32630A(747)v574",158,158,1,"32630A","ADAM12","chr10:127786969","c.1005+16T>C(exon10)","非编码区","rs2290842",0.62,0.6,0.61,0.59,null,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM12",1,130,"非编码区",16203,"1.0000=178/178","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474"]
["32630A(747)v575",134,72,0.5373,"32630A","ADAM12","chr10:128019025","c.142G>C(exon2)","p.G48R","rs3740199",null,0.47,0.44,0.5,0.5,0.5,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","19268722;16385451;23491141",{"$nulls":3},3,null,4,0,"ADAM12",1,130,"非同义",12320,"0.5133=77/150","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474","GLY48ARG|\"Osteoarthritis_in_males_association_with\"|19268722"]
["32630A(747)v576",26,26,1,"32630A","ADAM15","chr1:155026942","c.572A>C(exon6)","p.K191T","rs6427128",0.9,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM15",1,66,"非同义",12220,"1.0000=30/30","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_207197"]
["32630A(747)v577",32,32,1,"32630A","ADAM15","chr1:155033317","c.2277+9T>C(exon19)","非编码区","rs11264304",0.7,0.94,0.94,0.94,0.91,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM15",1,66,"非编码区",16203,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_207197"]
["32630A(747)v578",220,109,0.4955,"32630A","ADAM18","chr8:39463823","c.133-3T>C(exon3)","非编码区","rs13268577",0.27,0.15,0.14,0.16,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM18",1,260,"非编码区",16202,"0.4941=125/253","位于基因组单拷贝区域+DNA结构正常",8749,"8p11.22","NM_014237"]
["32630A(747)v579",347,150,0.4323,"32630A","ADAM18","chr8:39496029","c.873T>C(exon10)","p.T291T","rs12708194",0.59,0.26,0.24,0.29,0.27,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM18",1,260,"同义",13203,"0.4354=172/395","位于基因组单拷贝区域+DNA结构正常",8749,"8p11.22","NM_014237"]
["32630A(747)v580",212,90,0.4245,"32630A","ADAM18","chr8:39521419","c.1326+10T>C(exon13)","非编码区","rs6988389",0.7,0.38,0.36,0.4,0.4,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM18",1,260,"非编码区",16203,"0.4058=112/276","位于基因组单拷贝区域+DNA结构正常",8749,"8p11.22","NM_014237"]
["32630A(747)v581",76,38,0.5,"32630A","ADAM20","chr14:70989762","c.1863A>G(exon2)","p.V621V","rs9323540",0.058,0.026,0.029,0.024,0.024,0.023,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM20",1,140,"同义",13203,"0.5172=45/87","位于基因组单拷贝区域+DNA结构正常",8748,"14q24.1","NM_003814"]
["32630A(747)v582",97,54,0.5567,"32630A","ADAM20","chr14:70990398","c.1227C>T(exon2)","p.C409C","rs10162314",0.058,0.026,0.029,0.024,0.024,0.023,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM20",1,140,"同义",13203,"0.5405=60/111","位于基因组单拷贝区域+DNA结构正常",8748,"14q24.1","NM_003814"]
["32630A(747)v583",73,21,0.2877,"32630A","ADAM21","chr14:70924237","c.21C>A(exon2)","p.L7L","rs3751520",0.37,0.35,0.36,0.34,0.34,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAM21",1,100,"同义",13203,"0.2824=24/85","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v584",82,26,0.3171,"32630A","ADAM21","chr14:70924249","c.33A>G(exon2)","p.R11R","rs3751521",0.65,0.89,0.9,0.88,0.88,0.87,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAM21",1,100,"同义",13203,"0.3158=30/95","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v585",79,24,0.3038,"32630A","ADAM21","chr14:70924450","c.234C>T(exon2)","p.V78V","rs58247196",{"$nulls":4},0.29,0.36,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,100,"同义",13303,"0.2632=25/95","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v586",79,79,1,"32630A","ADAM21","chr14:70924462","c.246A>G(exon2)","p.L82L","rs3751523",{"$nulls":4},0.53,0.54,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,100,"同义",13303,"1.0000=97/97","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v587",79,79,1,"32630A","ADAM21","chr14:70924501","c.285C>G(exon2)","p.D95E","rs8010994",{"$nulls":4},0.74,0.61,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"ADAM21",1,100,"非同义",12320,"1.0000=95/95","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v588",76,45,0.5921,"32630A","ADAM21","chr14:70924507","c.291A>C(exon2)","p.A97A","rs3751524",{"$nulls":4},0.07,0.067,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,100,"同义",13303,"0.5978=55/92","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v589",81,42,0.5185,"32630A","ADAM21","chr14:70924852","c.636A>C(exon2)","p.L212L","rs3829455",0.44,0.36,0.36,0.35,0.37,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAM21",1,100,"同义",13203,"0.5057=44/87","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v590",54,54,1,"32630A","ADAM21","chr14:70925257","c.1041A>G(exon2)","p.L347L","rs12436346",{"$nulls":4},1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,100,"同义",13303,"1.0000=61/61","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v591",64,20,0.3125,"32630A","ADAM21","chr14:70925818","c.1602T>C(exon2)","p.N534N","rs2022624",0.74,0.9,0.9,0.89,0.88,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAM21",1,100,"同义",13203,"0.2817=20/71","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32630A(747)v592",31,31,1,"32630A","ADAM22","chr7:87564497","c.242C>G(exon2)","p.P81R","rs2279542",0.63,0.52,0.57,0.47,0.48,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM22",1,230,"非同义",12220,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",53616,"7q21","NM_021723"]
["32630A(747)v593",114,114,1,"32630A","ADAM22","chr7:87774727","c.1393-3T>C(exon17)","非编码区","rs3761806",0.12,0.23,0.24,0.23,0.21,0.21,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM22",1,230,"非编码区",16202,"1.0000=135/135","位于基因组单拷贝区域+DNA结构正常",53616,"7q21","NM_021723"]
["32630A(747)v594",61,61,1,"32630A","ADAM28","chr8:24193264","c.*54T>C(exon14)","非编码区","rs4872222",0.99,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM28",1,220,"非编码区",14200,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_021777"]
["32630A(747)v595",194,194,1,"32630A","ADAM28","chr8:24211278","c.2245-5C>T(exon22)","非编码区","rs7815643",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM28",1,220,"非编码区",16202,"1.0000=220/220","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32630A(747)v596",190,190,1,"32630A","ADAM28","chr8:24211331","c.2293G>A(exon22)","p.V765M","rs7814768",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM28",1,220,"非同义",12220,"1.0000=216/216","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32630A(747)v597",114,114,1,"32630A","ADAM28","chr8:24211884-24211885","c.2308-13(exon23)_c.2308-12(exon23)insTGTC","非编码区","rs10694022",0.97,1,1,1,0.8,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,6,0,"ADAM28",1,220,"非编码区",2500,"1.0000=141/141","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32630A(747)v598",129,129,1,"32630A","ADAM28","chr8:24211994-24211997","c.*77(exon23)_c.*80(exon23)delCTAT","非编码区","rs10610134",null,1,1,1,0.14,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"ADAM28",1,220,"非编码区",2430,"1.0000=152/152","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32630A(747)v599",109,56,0.5138,"32630A","ADAM28","chr8:24212040","c.*123T>C(exon23)","非编码区","rs1058914",0.22,0.5,0.5,0.5,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM28",1,220,"非编码区",14200,"0.4511=60/133","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32630A(747)v600",89,40,0.4494,"32630A","ADAM29","chr4:175898555","c.1879C>T(exon5)","p.P627S","rs78280171",0.049,0.23,0.25,0.22,0.24,0.24,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"ADAM29",1,160,"非同义",12110,"0.4362=41/94","位于基因组多拷贝区域+DNA结构正常",11086,"4q34","NM_014269"]
["32630A(747)v601",233,101,0.4335,"32630A","ADAM2","chr8:39682319","c.267+19C>T(exon4)","非编码区","rs202055788",0.0006,0.0072,0.014,0,0.0052,0.0039,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"ADAM2",1,240,"非编码区",16103,"0.4302=114/265","位于基因组单拷贝区域+DNA结构正常",2515,"8p11.2","NM_001464"]
["32630A(747)v602",43,18,0.4186,"32630A","ADAM32","chr8:38965271","c.-24C>T(exon1)","非编码区","rs59118660",0.44,0.69,0.71,0.66,0.68,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM32",1,280,"非编码区",14200,"0.3725=19/51","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004"]
["32630A(747)v603",136,136,1,"32630A","ADAM32","chr8:39080632","c.1400C>G(exon14)","p.T467S","rs7845771",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM32",1,280,"非同义",12230,"1.0000=149/149","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004"]
["32630A(747)v604",133,62,0.4662,"32630A","ADAM32","chr8:39133389","c.2279+4A>G(exon22)","非编码区",{"$nulls":5},0.0027,null,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,3,0,"ADAM32",1,280,"非编码区",16401,"0.4839=75/155","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004"]
["32630A(747)v605",59,21,0.3559,"32630A","ADAM33","chr20:3650205","c.2320C>T(exon20)","p.P774S","rs2280090",0.14,0.11,0.11,0.11,0.075,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20003279;16519819;16784537;17878941;18778489",{"$nulls":3},5,null,7,0,"ADAM33",1,48,"非同义",12210,"0.3385=22/65","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220","rs2280090|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279"]
["32630A(747)v606",68,26,0.3824,"32630A","ADAM33","chr20:3650234","c.2291T>C(exon20)","p.M764T","rs2280091",0.13,0.099,0.11,0.087,0.06,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20003279;16024651;16784537;17878941;18778489",{"$nulls":3},5,null,7,0,"ADAM33",1,48,"非同义",12210,"0.3684=28/76","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220","rs2280091|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279;MET764THR|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279"]
["32630A(747)v607",34,12,0.3529,"32630A","ADAM33","chr20:3651742","c.2151G>C(exon19)","p.G717G","rs528557",0.39,0.23,0.25,0.2,0.17,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16784537;19146844;19236319;19284602;19317339",{"$nulls":3},5,null,7,0,"ADAM33",1,48,"同义",13203,"0.3611=13/36","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32630A(747)v608",37,19,0.5135,"32630A","ADAM33","chr20:3652298","c.1835T>A(exon16)","p.L612H","rs41453444",0.0058,0.029,0.033,0.024,0.008,0.042,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,7,0,"ADAM33",1,48,"非同义",12110,"0.5122=21/41","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32630A(747)v609",18,11,0.6111,"32630A","ADAM33","chr20:3654433","c.864G>A(exon9)","p.G288G","rs2271511",0.28,0.2,0.22,0.17,0.13,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21320344,{"$nulls":3},5,null,7,0,"ADAM33",1,48,"同义",13203,"0.6316=12/19","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32630A(747)v610",36,36,1,"32630A","ADAM33","chr20:3657803","c.178-13T>C(exon3)","非编码区","rs568251",0.9,0.96,0.97,0.96,null,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM33",1,48,"非编码区",16202,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32630A(747)v611",36,36,1,"32630A","ADAM33","chr20:3657804","c.178-14A>T(exon3)","非编码区","rs597165",0.9,0.96,0.97,0.96,null,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM33",1,48,"非编码区",16202,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32630A(747)v612",327,162,0.4954,"32630A","ADAM7","chr8:24339679","c.730G>A(exon9)","p.V244M","rs13255694",0.26,0.17,0.14,0.19,0.2,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM7",1,240,"非同义",12210,"0.5052=196/388","位于基因组单拷贝区域+DNA结构正常",8756,"8p21.2","NM_003817"]
["32630A(747)v613",277,145,0.5235,"32630A","ADAM7","chr8:24356818","c.1912A>C(exon17)","p.N638H","rs13259668",0.33,0.18,0.15,0.21,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19435634,{"$nulls":3},5,null,3,0,"ADAM7",1,240,"非同义",12210,"0.5126=163/318","位于基因组单拷贝区域+DNA结构正常",8756,"8p21.2","NM_003817","ASN638HIS|\"Schizophrenia_association_with\"|19435634"]
["32630A(747)v614",216,116,0.537,"32630A","ADAM7","chr8:24359068","c.2187G>A(exon20)","p.L729L","rs13277171",0.26,0.18,0.15,0.2,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM7",1,240,"同义",13203,"0.5391=138/256","位于基因组单拷贝区域+DNA结构正常",8756,"8p21.2","NM_003817"]
["32630A(747)v615",40,40,1,"32630A","ADAM8","chr10:135076523","c.*137G>T(exon23)","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%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非编码区",14200,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v616",68,68,1,"32630A","ADAM8","chr10:135076596","c.*64A>G(exon23)","非编码区","rs2230576",0.74,0.93,0.91,0.94,0.9,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非编码区",14200,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v617",75,73,0.9733,"32630A","ADAM8","chr10:135082346","c.1969T>C(exon19)","p.F657L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,11,0,"ADAM8",1,48,"非同义",12220,"0.9775=87/89","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v618",24,24,1,"32630A","ADAM8","chr10:135084232-135084233","c.1634+7(exon15)_c.1634+8(exon15)insTCT","非编码区","rs5789159",null,0.95,0.95,0.95,0.05,0.95,"纯合","未知","内含子突变",{"$nulls":4},4,null,11,0,"ADAM8",1,48,"非编码区",2500,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v619",26,26,1,"32630A","ADAM8","chr10:135084322","c.1565-13T>C(exon15)","非编码区","rs3008321",0.9,0.95,0.96,0.95,0.83,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非编码区",16202,"1.0000=31/31","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v620",35,35,1,"32630A","ADAM8","chr10:135085321","c.1095G>A(exon11)","p.A365A","rs1131720",0.85,0.94,0.93,0.94,0.73,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"同义",13203,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v621",24,24,1,"32630A","ADAM8","chr10:135085426","c.990T>C(exon11)","p.C330C","rs1131719",0.92,0.95,0.96,0.95,0.81,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"同义",13203,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v622",34,34,1,"32630A","ADAM8","chr10:135085754","c.900C>T(exon10)","p.T300T","rs1131718",0.88,0.95,0.96,0.95,0.83,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"同义",13203,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v623",59,59,1,"32630A","ADAM8","chr10:135086380","c.637-10G>A(exon8)","非编码区","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非编码区",16202,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v624",49,49,1,"32630A","ADAM8","chr10:135087521","c.136C>T(exon3)","p.L46F","rs3008326",0.72,0.94,0.93,0.94,0.87,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非同义",12220,"0.9833=59/60","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001164490"]
["32630A(747)v625",66,66,1,"32630A","ADAM8","chr10:135089035","c.103T>C(exon2)","p.W35R","rs2275725",0.9,0.95,0.96,0.95,0.81,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非同义",12220,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32630A(747)v626",84,84,1,"32630A","ADAM9","chr8:38884342-38884343","c.1130+13(exon11)_c.1130+14(exon11)insTTCT","非编码区","rs10652213",{"$nulls":4},0.57,0.95,"纯合","未知","内含子突变",null,"视锥-视杆细胞营养不良9型",null,612775,4,1,2,1,"ADAM9",1,200,"非编码区",2500,"1.0000=93/93","位于基因组单拷贝区域+DNA结构正常",8754,"8p11.22","NM_003816"]
["32630A(747)v627",4,4,1,"32630A","ADAM9","chr8:38961550","c.*331G>T(exon22)","非编码区","rs4733973",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"视锥-视杆细胞营养不良9型",null,612775,5,1,2,1,"ADAM9",1,200,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",8754,"8p11.22","NM_003816"]
["32630A(747)v628",115,62,0.5391,"32630A","ADAMDEC1","chr8:24256470","c.609C>T(exon10)","p.S203S","rs2291577",0.29,0.19,0.17,0.22,0.21,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18449420,{"$nulls":3},5,null,2,0,"ADAMDEC1",1,230,"同义",13203,"0.5299=71/134","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271"]
["32630A(747)v629",338,173,0.5118,"32630A","ADAMDEC1","chr8:24261526","c.1094A>G(exon14)","p.N365S","rs3765124",0.29,0.2,0.17,0.22,0.21,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18449420,{"$nulls":3},5,null,2,0,"ADAMDEC1",1,230,"非同义",12210,"0.4975=201/404","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271"]
["32630A(747)v630",44,44,1,"32630A","ADAMTS10","chr19:8645786","c.3303T>G(exon26)","p.H1101Q","rs7252299",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,2,1,"ADAMTS10",1,47,"非同义",12230,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957"]
["32630A(747)v631",32,32,1,"32630A","ADAMTS10","chr19:8669931","c.401C>G(exon4)","p.T134S","rs7255721",0.89,0.96,0.98,0.94,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19836009,"常染色体隐性Weill-Marchesani综合症","AR",277600,5,1,2,1,"ADAMTS10",1,47,"非同义",12220,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957"]
["32630A(747)v632",47,47,1,"32630A","ADAMTS12","chr5:33535060","c.4484C>T(exon23)","p.T1495I","rs25754",0.6,0.78,0.79,0.77,0.76,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","22505177;24876675",{"$nulls":3},5,null,4,0,"ADAMTS12",1,110,"非同义",12210,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955"]
["32630A(747)v633",66,36,0.5455,"32630A","ADAMTS12","chr5:33588684","c.2865+20G>A(exon18)","非编码区","rs56237226",0.061,0.05,0.062,0.039,0.047,0.058,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS12",1,110,"非编码区",16203,"0.5417=39/72","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955"]
["32630A(747)v634",92,50,0.5435,"32630A","ADAMTS12","chr5:33624430","c.2049T>C(exon14)","p.D683D","rs61748198",0.16,0.24,0.22,0.25,0.24,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS12",1,110,"同义",13203,"0.5347=54/101","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955"]
["32630A(747)v635",58,33,0.569,"32630A","ADAMTS12","chr5:33649807","c.1191-5G>T(exon8)","非编码区","rs4504387",0.54,0.73,0.72,0.73,0.63,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS12",1,110,"非编码区",16202,"0.5072=35/69","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955"]
["32630A(747)v636",50,25,0.5,"32630A","ADAMTS13","chr9:136291063","c.420C>T(exon5)","p.A140A","rs3118667",0.58,0.84,0.85,0.83,0.85,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",274150,5,3,4,1,"ADAMTS13",0.99,55,"同义",13203,"0.5192=27/52","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025"]
["32630A(747)v637",48,23,0.4792,"32630A","ADAMTS13","chr9:136304497","c.1716A>G(exon15)","p.T572T","rs3124768",0.52,0.82,0.82,0.82,0.82,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22768050,"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",274150,5,3,4,1,"ADAMTS13",0.99,55,"同义",13203,"0.4340=23/53","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025","rs3124768|\"Reduced_expression\"|22768050"]
["32630A(747)v638",14,8,0.5714,"32630A","ADAMTS13","chr9:136308542","c.2280C>T(exon19)","p.G760G","rs3124767",0.5,0.81,0.82,0.81,0.81,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",274150,5,3,4,1,"ADAMTS13",0.99,55,"同义",13203,"0.5714=8/14","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025"]
["32630A(747)v639",46,22,0.4783,"32630A","ADAMTS13","chr9:136324239","c.4221C>A(exon29)","p.T1407T","rs1055432",0.23,0.18,0.15,0.2,0.16,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",274150,5,3,4,1,"ADAMTS13",0.99,55,"同义",13203,"0.4898=24/49","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025"]
["32630A(747)v640",44,44,1,"32630A","ADAMTS14","chr10:72500763","c.1778T>C(exon12)","p.L593P","rs10823607",0.8,0.91,0.9,0.93,0.89,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23728906,{"$nulls":3},5,null,9,0,"ADAMTS14",1,61,"非同义",12220,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v641",28,28,1,"32630A","ADAMTS14","chr10:72500863","c.1878C>G(exon12)","p.S626S","rs10999500",0.67,0.85,0.83,0.86,0.81,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21283782,{"$nulls":3},5,null,9,0,"ADAMTS14",1,61,"同义",13203,"1.0000=31/31","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v642",39,19,0.4872,"32630A","ADAMTS14","chr10:72513635","c.2818C>A(exon19)","p.L940M","rs12774070",0.16,0.19,0.19,0.2,0.13,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,9,0,"ADAMTS14",1,61,"非同义",12220,"0.4524=19/42","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v643",38,38,1,"32630A","ADAMTS14","chr10:72513682","c.2865C>T(exon19)","p.C955C","rs2587475",0.53,0.5,0.52,0.48,0.36,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAMTS14",1,61,"同义",13203,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v644",70,35,0.5,"32630A","ADAMTS14","chr10:72517837","c.3066C>T(exon20)","p.P1022P","rs6480463",0.52,0.41,0.44,0.37,0.38,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAMTS14",1,61,"同义",13203,"0.4810=38/79","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v645",48,24,0.5,"32630A","ADAMTS14","chr10:72520259","c.3331C>T(exon22)","p.P1111S","rs61573157",0.066,0.12,0.09,0.16,0.11,0.094,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAMTS14",1,61,"非同义",12220,"0.5370=29/54","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v646",2,2,1,"32630A","ADAMTS14","chr10:72520930","c.*321G>A(exon22)","非编码区","rs2541232",0.46,0.48,0.47,0.49,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAMTS14",1,61,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v647",2,2,1,"32630A","ADAMTS14","chr10:72520944","c.*335T>C(exon22)","非编码区","rs45542543",0.23,0.24,0.26,0.21,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAMTS14",1,61,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v648",2,2,1,"32630A","ADAMTS14","chr10:72520956","c.*347A>G(exon22)","非编码区","rs7074569",0.75,0.75,0.8,0.71,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAMTS14",1,61,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32630A(747)v649",43,43,1,"32630A","ADAMTS15","chr11:130339312","c.1698T>C(exon5)","p.N566N","rs731446",0.57,0.35,0.34,0.36,0.38,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS15",1,58,"同义",13203,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055"]
["32630A(747)v650",61,34,0.5574,"32630A","ADAMTS15","chr11:130340962","c.1868A>G(exon6)","p.N623S","rs11222114",0.07,0.26,0.26,0.25,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS15",1,58,"非同义",12210,"0.5857=41/70","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055"]
["32630A(747)v651",9,9,1,"32630A","ADAMTS16","chr5:5140632","c.52T>C(exon1)","p.L18L","rs270208",0.62,0.8,0.82,0.77,0.76,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ADAMTS16",1,110,"同义",13203,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32630A(747)v652",40,40,1,"32630A","ADAMTS16","chr5:5146223","c.176-20G>C(exon3)","非编码区","rs1871468",0.79,0.65,0.67,0.63,0.66,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19423552,{"$nulls":3},5,null,5,0,"ADAMTS16",1,110,"非编码区",16202,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32630A(747)v653",71,71,1,"32630A","ADAMTS16","chr5:5146377","c.310T>C(exon3)","p.S104P","rs1019747",0.49,0.52,0.56,0.49,0.51,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ADAMTS16",1,110,"非同义",12220,"1.0000=79/79","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32630A(747)v654",87,87,1,"32630A","ADAMTS16","chr5:5200281","c.1350C>T(exon9)","p.C450C","rs6555335",0.73,0.83,0.82,0.84,0.83,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ADAMTS16",1,110,"同义",13203,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32630A(747)v655",152,63,0.4145,"32630A","ADAMTS16","chr5:5239862","c.2347A>G(exon16)","p.T783A","rs147650341",3.8E-3,0.014,0.014,0.015,0.017,0.013,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"ADAMTS16",1,110,"非同义",12120,"0.3841=63/164","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32630A(747)v656",15,8,0.5333,"32630A","ADAMTS17","chr15:100514417","c.*190G>A(exon22)","非编码区","rs2727199",0.52,0.51,0.53,0.49,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",14200,"0.5263=10/19","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v657",15,8,0.5333,"32630A","ADAMTS17","chr15:100514418","c.*189G>C(exon22)","非编码区","rs2581343",0.52,0.51,0.53,0.49,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",14200,"0.5263=10/19","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v658",36,21,0.5833,"32630A","ADAMTS17","chr15:100514494","c.*113A>G(exon22)","非编码区","rs2581341",0.59,0.51,0.53,0.49,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",14200,"0.5750=23/40","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v659",46,27,0.587,"32630A","ADAMTS17","chr15:100514525","c.*82G>A(exon22)","非编码区","rs3825894",0.34,0.4,0.41,0.39,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",14200,"0.5714=28/49","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v660",65,43,0.6615,"32630A","ADAMTS17","chr15:100514561","c.*46C>G(exon22)","非编码区","rs2581340",{"$nulls":4},0.52,0.53,"杂合","未知","UTR突变可能影响蛋白翻译",null,"Weill-Marchesani样综合症","AR",613195,3,3,16,1,"ADAMTS17",1,92,"非编码区",14300,"0.6761=48/71","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v661",75,43,0.5733,"32630A","ADAMTS17","chr15:100514614","c.3281A>G(exon22)","p.N1094S","rs2573652",0.68,0.56,0.58,0.53,0.57,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19330903,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非同义",12220,"0.5783=48/83","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v662",68,33,0.4853,"32630A","ADAMTS17","chr15:100589056","c.2591+6A>G(exon18)","非编码区","rs8028251",0.37,0.49,0.5,0.48,0.5,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",16202,"0.4625=37/80","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v663",92,45,0.4891,"32630A","ADAMTS17","chr15:100594271","c.2138-12C>T(exon16)","非编码区","rs28529328",0.31,0.43,0.44,0.42,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",16202,"0.5135=57/111","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v664",89,39,0.4382,"32630A","ADAMTS17","chr15:100636586","c.2112C>T(exon15)","p.G704G","rs4965583",0.26,0.54,0.52,0.55,0.5,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"同义",13203,"0.4592=45/98","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v665",73,39,0.5342,"32630A","ADAMTS17","chr15:100649248","c.1962C>T(exon14)","p.D654D","rs61752832",0.085,0.043,0.048,0.039,0.036,0.035,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"同义",13203,"0.5309=43/81","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v666",85,85,1,"32630A","ADAMTS17","chr15:100672237","c.1696A>C(exon12)","p.R566R","rs12907333",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,1,16,1,"ADAMTS17",1,92,"同义",13203,"1.0000=104/104","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v667",188,188,1,"32630A","ADAMTS17","chr15:100794363","c.1053G>A(exon7)","p.K351K","rs4369638",0.82,0.86,0.84,0.88,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,1,16,1,"ADAMTS17",1,92,"同义",13203,"1.0000=220/220","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v668",83,83,1,"32630A","ADAMTS17","chr15:100801698","c.1017C>T(exon6)","p.A339A","rs4965613",0.69,0.61,0.59,0.62,0.63,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,1,16,1,"ADAMTS17",1,92,"同义",13203,"1.0000=97/97","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v669",69,41,0.5942,"32630A","ADAMTS17","chr15:100821426","c.789+8C>T(exon4)","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",16203,"0.5679=46/81","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v670",76,43,0.5658,"32630A","ADAMTS17","chr15:100821467","c.756C>T(exon4)","p.A252A","rs7496640",null,0.49,0.5,0.49,0.52,0.54,"杂合","未知","预测范围之外的同义突变",null,"Weill-Marchesani样综合症","AR",613195,4,3,16,1,"ADAMTS17",1,92,"同义",13303,"0.5161=48/93","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v671",37,20,0.5405,"32630A","ADAMTS17","chr15:100821576","c.647C>T(exon4)","p.S216L","rs7496668",0.48,0.49,0.5,0.49,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非同义",12210,"0.5000=23/46","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32630A(747)v672",7,3,0.4286,"32630A","ADAMTS18","chr16:77317591","c.*262A>G(exon23)","非编码区","rs889706",0.18,0.19,0.23,0.14,0.17,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非编码区",14200,"0.4286=3/7","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32630A(747)v673",33,18,0.5455,"32630A","ADAMTS18","chr16:77317756","c.*97C>T(exon23)","非编码区","rs889707",0.17,0.18,0.22,0.14,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非编码区",14200,"0.5135=19/37","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32630A(747)v674",97,39,0.4021,"32630A","ADAMTS18","chr16:77323235","c.3476G>C(exon22)","p.S1159T","rs3743749",0.18,0.2,0.24,0.16,0.18,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"0.3883=40/103","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32630A(747)v675",113,61,0.5398,"32630A","ADAMTS18","chr16:77353973","c.2305C>A(exon16)","p.L769I","rs9930984",0.63,0.88,0.86,0.89,0.88,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"0.4924=65/132","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32630A(747)v676",127,58,0.4567,"32630A","ADAMTS18","chr16:77359919","c.1876T>A(exon13)","p.L626I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"0.4315=63/146","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32630A(747)v677",139,66,0.4748,"32630A","ADAMTS18","chr16:77389956","c.1341T>C(exon9)","p.D447D","rs8059275",0.88,0.88,0.87,0.9,0.92,0.91,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"同义",13203,"0.4568=74/162","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32630A(747)v678",70,36,0.5143,"32630A","ADAMTS18","chr16:77401545","c.571T>C(exon4)","p.Y191H","rs11643211",0.37,0.56,0.57,0.55,0.58,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"0.5476=46/84","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32630A(747)v679",296,296,1,"32630A","ADAMTS19","chr5:128863471","c.1099A>G(exon5)","p.S367G","rs6595908",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS19",1,180,"非同义",12220,"1.0000=349/349","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638"]
["32630A(747)v680",63,63,1,"32630A","ADAMTS19","chr5:129072943","c.*32G>T(exon23)","非编码区","rs1465686",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS19",1,180,"非编码区",14200,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638"]
["32630A(747)v681",5,3,0.6,"32630A","ADAMTS1","chr21:28209667","c.*231T>C(exon9)","非编码区","rs13615",0.18,0.52,0.54,0.5,0.58,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,120,"非编码区",14200,"0.6667=4/6","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32630A(747)v682",130,45,0.3462,"32630A","ADAMTS1","chr21:28212760","c.1500C>T(exon5)","p.P500P","rs436525",0.57,0.4,0.39,0.41,0.41,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,120,"同义",13203,"0.3354=53/158","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32630A(747)v683",14,10,0.7143,"32630A","ADAMTS1","chr21:28216595","c.679G>C(exon1)","p.A227P","rs428785",0.69,0.44,0.43,0.44,0.48,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,120,"非同义",12220,"0.6667=10/15","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32630A(747)v684",26,16,0.6154,"32630A","ADAMTS1","chr21:28216692","c.582C>A(exon1)","p.V194V","rs445784",0.68,0.44,0.43,0.44,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,120,"同义",13203,"0.6154=16/26","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32630A(747)v685",18,13,0.7222,"32630A","ADAMTS1","chr21:28217178","c.96A>C(exon1)","p.P32P","rs434857",0.69,0.44,0.43,0.44,0.51,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,120,"同义",13203,"0.7222=13/18","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32630A(747)v686",6,3,0.5,"32630A","ADAMTS1","chr21:28217320","c.-47G>C(exon1)","非编码区","rs402007",0.69,0.44,0.43,0.44,0.47,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,120,"非编码区",14200,"0.5000=3/6","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32630A(747)v687",92,92,1,"32630A","ADAMTS20","chr12:43819298","c.4284+19C>T(exon28)","非编码区","rs10785430",0.66,0.88,0.89,0.86,0.86,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS20",1,180,"非编码区",16203,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",80070,"12q12","NM_025003"]
["32630A(747)v688",334,334,1,"32630A","ADAMTS20","chr12:43860526","c.1296T>C(exon9)","p.P432P","rs11182088",0.43,0.79,0.82,0.77,0.76,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS20",1,180,"同义",13203,"1.0000=379/379","位于基因组单拷贝区域+DNA结构正常",80070,"12q12","NM_025003"]
["32630A(747)v689",2,2,1,"32630A","ADAMTS2","chr5:178540656","c.*212A>C(exon22)","非编码区","rs10479525",0.52,0.62,0.61,0.63,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,11,1,"ADAMTS2",0.98,59,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v690",94,51,0.5426,"32630A","ADAMTS2","chr5:178540975","c.3529C>T(exon22)","p.P1177S","rs1054480",0.26,0.27,0.26,0.28,0.29,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23491141,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非同义",12220,"0.5392=55/102","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v691",25,9,0.36,"32630A","ADAMTS2","chr5:178549791","c.2959-17C>T(exon20)","非编码区","rs2303641",0.25,0.29,0.3,0.28,0.31,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非编码区",16202,"0.3600=9/25","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v692",77,29,0.3766,"32630A","ADAMTS2","chr5:178567054","c.1630-18T>C(exon11)","非编码区","rs2303638",0.24,0.3,0.3,0.29,0.31,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非编码区",16202,"0.3368=32/95","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v693",35,14,0.4,"32630A","ADAMTS2","chr5:178581797","c.1238+18G>A(exon7)","非编码区","rs2278222",0.23,0.29,0.3,0.28,0.31,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非编码区",16203,"0.3902=16/41","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v694",36,16,0.4444,"32630A","ADAMTS2","chr5:178581859","c.1194C>T(exon7)","p.D398D","rs2278221",0.23,0.28,0.29,0.27,0.3,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"同义",13203,"0.4634=19/41","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v695",29,29,1,"32630A","ADAMTS2","chr5:178634619","c.786G>A(exon4)","p.A262A","rs423552",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,11,1,"ADAMTS2",0.98,59,"同义",13203,"1.0000=32/32","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v696",39,39,1,"32630A","ADAMTS2","chr5:178634672","c.733G>A(exon4)","p.V245I","rs398829",0.43,0.63,0.68,0.59,0.64,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,11,1,"ADAMTS2",0.98,59,"非同义",12220,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v697",41,20,0.4878,"32630A","ADAMTS2","chr5:178634683","c.722G>A(exon4)","p.R241H","rs11750821",0.072,0.082,0.086,0.078,0.1,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非同义",12220,"0.4894=23/47","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v698",9,6,0.6667,"32630A","ADAMTS2","chr5:178770759","c.534+9G>C(exon2)","非编码区","rs2271213",0.4,0.52,0.49,0.55,0.49,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非编码区",16203,"0.6667=6/9","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v699",37,18,0.4865,"32630A","ADAMTS2","chr5:178770981","c.321T>C(exon2)","p.S107S","rs2271212",{"$nulls":4},0.47,0.49,"杂合","未知","预测范围之外的同义突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,4,3,11,1,"ADAMTS2",0.98,59,"同义",13303,"0.4500=18/40","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32630A(747)v700",126,66,0.5238,"32630A","ADAMTS3","chr4:73414286","c.413G>A(exon3)","p.R138K","rs788908",0.64,0.66,0.65,0.68,0.7,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS3",1,170,"非同义",12220,"0.5385=77/143","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243"]
["32630A(747)v701",124,67,0.5403,"32630A","ADAMTS3","chr4:73433123-73433123","c.70-5(exon2)delT","非编码区","rs33925079",0.42,0.45,0.4,0.51,0.075,0.45,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ADAMTS3",1,170,"非编码区",2500,"0.5407=73/135","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243"]
["32630A(747)v702",78,78,1,"32630A","ADAMTS4","chr1:161163037","c.1877A>G(exon7)","p.Q626R","rs4233367",0.71,0.88,0.89,0.88,0.91,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19064571,{"$nulls":3},5,null,3,0,"ADAMTS4",1,58,"非同义",12220,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099"]
["32630A(747)v703",60,60,1,"32630A","ADAMTS4","chr1:161163633","c.1549-17G>A(exon6)","非编码区","rs3813622",null,0.89,0.89,0.89,0.91,0.9,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"ADAMTS4",1,58,"非编码区",16302,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099"]
["32630A(747)v704",15,15,1,"32630A","ADAMTS4","chr1:161168004","c.414G>A(exon1)","p.S138S","rs33941127",0.37,0.47,0.46,0.47,0.54,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS4",1,58,"同义",13203,"1.0000=16/16","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099"]
["32630A(747)v705",89,52,0.5843,"32630A","ADAMTS7","chr15:79054773","c.4875C>T(exon23)","p.T1625T","rs78995047",0.068,0.1,0.12,0.087,0.095,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.5591=52/93","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v706",60,60,1,"32630A","ADAMTS7","chr15:79054900","c.4748G>C(exon23)","p.G1583A","rs7495616",0.67,0.59,0.6,0.57,0.56,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非同义",12220,"1.0000=66/66","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v707",38,19,0.5,"32630A","ADAMTS7","chr15:79054918-79054919","c.4741-12(exon23)_c.4741-11(exon23)insC","非编码区","rs74316827",0.099,0.35,0.33,0.36,0.23,0.37,"杂合","未知","内含子突变",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"非编码区",2500,"0.5349=23/43","位于基因组多拷贝区域+简单重复结构",11173,"15q24.2","NM_014272"]
["32630A(747)v708",15,15,1,"32630A","ADAMTS7","chr15:79058013","c.4240G>A(exon19)","p.G1414S","rs2929155",0.67,0.58,0.6,0.57,0.51,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非同义",12220,"1.0000=19/19","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v709",16,9,0.5625,"32630A","ADAMTS7","chr15:79058017","c.4236C>T(exon19)","p.N1412N","rs111789308",0.084,0.1,0.12,0.083,0.099,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.5000=10/20","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v710",28,11,0.3929,"32630A","ADAMTS7","chr15:79058090","c.4163T>C(exon19)","p.V1388A","rs2929158",{"$nulls":4},0.36,0.3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,21,0,"ADAMTS7",1,51,"非同义",12320,"0.4444=16/36","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v711",21,21,1,"32630A","ADAMTS7","chr15:79058572","c.3681A>C(exon19)","p.R1227R","rs1809421",null,0.98,0.99,0.98,0.98,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"同义",13303,"1.0000=23/23","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v712",30,30,1,"32630A","ADAMTS7","chr15:79058923","c.3330C>T(exon19)","p.P1110P","rs1809422",0.95,0.92,0.91,0.93,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"1.0000=31/31","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v713",31,8,0.2581,"32630A","ADAMTS7","chr15:79058968","c.3285A>G(exon19)","p.T1095T","rs112827102",0.11,0.19,0.2,0.17,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.2500=8/32","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v714",30,8,0.2667,"32630A","ADAMTS7","chr15:79058974","c.3279C>T(exon19)","p.D1093D","rs146662463",0.036,0.06,0.076,0.044,0.049,0.064,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"同义",13103,"0.2581=8/31","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v715",81,25,0.3086,"32630A","ADAMTS7","chr15:79059703","c.2859+18A>G(exon18)","非编码区","rs1809424",0.25,0.19,0.21,0.17,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非编码区",16203,"0.2967=27/91","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v716",28,14,0.5,"32630A","ADAMTS7","chr15:79064170","c.2133G>A(exon15)","p.G711G","rs3784323",0.06,0.11,0.12,0.092,0.093,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13202,"0.4848=16/33","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v717",32,18,0.5625,"32630A","ADAMTS7","chr15:79065557","c.2011-12T>C(exon14)","非编码区","rs28450923",0.27,0.42,0.42,0.41,0.35,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非编码区",16202,"0.5294=18/34","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v718",29,29,1,"32630A","ADAMTS7","chr15:79065562","c.2011-17T>C(exon14)","非编码区","rs8036224",null,1,1,1,1,1,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"非编码区",16302,"1.0000=30/30","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v719",28,8,0.2857,"32630A","ADAMTS7","chr15:79066581","c.1938C>T(exon13)","p.D646D","rs74405922",0.1,0.36,0.36,0.37,0.35,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.2857=10/35","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v720",49,11,0.2245,"32630A","ADAMTS7","chr15:79066953","c.1876+13C>T(exon12)","非编码区","rs202215540",{"$nulls":4},0.38,0.38,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"非编码区",16303,"0.2281=13/57","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v721",62,26,0.4194,"32630A","ADAMTS7","chr15:79067055","c.1787G>A(exon12)","p.R596H","rs2277549",0.25,0.18,0.18,0.17,0.18,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非同义",12220,"0.3857=27/70","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v722",52,23,0.4423,"32630A","ADAMTS7","chr15:79068649","c.1587C>T(exon11)","p.P529P","rs59275951",0.077,0.1,0.11,0.092,0.095,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.4211=24/57","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v723",68,37,0.5441,"32630A","ADAMTS7","chr15:79069121","c.1530T>C(exon10)","p.A510A","rs11854507",0.25,0.13,0.14,0.12,0.13,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.5750=46/80","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v724",27,11,0.4074,"32630A","ADAMTS7","chr15:79082108","c.1101G>A(exon7)","p.Q367Q","rs2277548",0.1,0.36,0.36,0.35,0.35,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.3939=13/33","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v725",37,20,0.5405,"32630A","ADAMTS7","chr15:79089007","c.744A>G(exon4)","p.V248V","rs3743057",0.79,0.88,0.87,0.88,0.89,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.5405=20/37","位于基因组单拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32630A(747)v726",62,62,1,"32630A","ADAMTS8","chr11:130281488","c.1574C>T(exon6)","p.A525V","rs2131535",0.74,0.83,0.83,0.83,0.82,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS8",1,57,"非同义",12220,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037"]
["32630A(747)v727",23,15,0.6522,"32630A","ADAMTS8","chr11:130297748","c.434C>G(exon1)","p.A145G","rs35468629",0.071,0.1,0.11,0.092,0.12,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS8",1,57,"非同义",12220,"0.6154=16/26","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037"]
["32630A(747)v728",6,6,1,"32630A","ADAMTS8","chr11:130297957","c.225A>G(exon1)","p.L75L","rs7942034",0.91,0.98,0.97,0.99,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS8",1,57,"同义",13203,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037"]
["32630A(747)v729",67,35,0.5224,"32630A","ADAMTS9","chr3:64532476","c.5022C>G(exon32)","p.D1674E","rs6787633",0.13,0.23,0.23,0.22,0.22,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS9",1,140,"非同义",12220,"0.5333=40/75","位于基因组单拷贝区域+DNA结构正常",56999,"3p14.1","NM_182920"]
["32630A(747)v730",95,47,0.4947,"32630A","ADAMTS9","chr3:64667059","c.517-20C>A(exon3)","非编码区","rs73124286",0.25,0.37,0.41,0.33,0.38,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS9",1,140,"非编码区",16202,"0.4775=53/111","位于基因组单拷贝区域+DNA结构正常",56999,"3p14.1","NM_182920"]
["32630A(747)v731",101,47,0.4653,"32630A","ADAMTSL1","chr9:18504916","c.153T>A(exon2)","p.G51G","rs2277160",0.57,0.44,0.4,0.48,0.44,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAMTSL1",1,100,"同义",13203,"0.4537=49/108","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32630A(747)v732",98,49,0.5,"32630A","ADAMTSL1","chr9:18681821","c.1353A>G(exon12)","p.T451T","rs13293151",0.28,0.27,0.31,0.22,0.28,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAMTSL1",1,100,"同义",13203,"0.5093=55/108","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32630A(747)v733",131,56,0.4275,"32630A","ADAMTSL1","chr9:18775810","c.2467C>A(exon18)","p.L823I","rs934472",0.44,0.47,0.48,0.47,0.47,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAMTSL1",1,100,"非同义",12220,"0.4228=63/149","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32630A(747)v734",35,35,1,"32630A","ADAMTSL1","chr9:18776840","c.2613A>C(exon19)","p.I871I","rs1549986",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAMTSL1",1,100,"同义",13203,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32630A(747)v735",35,17,0.4857,"32630A","ADAMTSL1","chr9:18777368","c.3141T>C(exon19)","p.S1047S","rs7033684",0.69,0.75,0.75,0.75,0.71,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAMTSL1",1,100,"同义",13203,"0.4722=17/36","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32630A(747)v736",91,91,1,"32630A","ADAMTSL1","chr9:18817246","c.3934+11A>C(exon21)","非编码区","rs1433809",0.9,0.95,0.94,0.96,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAMTSL1",1,100,"非编码区",16203,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32630A(747)v737",77,77,1,"32630A","ADAMTSL1","chr9:18887908","c.4329G>C(exon24)","p.L1443L","rs75551645",0.049,0.14,0.16,0.12,0.13,0.12,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"ADAMTSL1",1,100,"同义",13103,"1.0000=88/88","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32630A(747)v738",30,29,0.9667,"32630A","ADAMTSL1","chr9:18889758","c.4643+12G>A(exon25)","非编码区","rs80314048",0.082,0.084,0.086,0.083,0.084,0.11,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAMTSL1",1,100,"非编码区",16203,"0.9688=31/32","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32630A(747)v739",65,34,0.5231,"32630A","ADAMTSL2","chr9:136409580","c.683-12T>G(exon8)","非编码区","rs9802778",{"$nulls":4},0.54,0.54,"杂合","未知","剪切位点预测结果为无害",null,"Geleophysic发育不良1型","AR",231050,4,3,7,1,"ADAMTSL2",1,77,"非编码区",16302,"0.5500=44/80","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320"]
["32630A(747)v740",78,38,0.4872,"32630A","ADAMTSL2","chr9:136412170","c.774C>T(exon9)","p.D258D","rs2073874",0.72,0.53,0.57,0.5,0.51,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Geleophysic发育不良1型","AR",231050,5,3,7,1,"ADAMTSL2",1,77,"同义",13203,"0.4941=42/85","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320"]
["32630A(747)v741",87,41,0.4713,"32630A","ADAMTSL2","chr9:136412236","c.840A>T(exon9)","p.A280A","rs2073875",0.72,0.53,0.57,0.5,0.51,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Geleophysic发育不良1型","AR",231050,5,3,7,1,"ADAMTSL2",1,77,"同义",13203,"0.4574=43/94","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320"]
["32630A(747)v742",82,36,0.439,"32630A","ADAMTSL2","chr9:136412255","c.859A>C(exon9)","p.R287R","rs2073876",0.72,0.53,0.57,0.5,0.51,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Geleophysic发育不良1型","AR",231050,5,3,7,1,"ADAMTSL2",1,77,"同义",13203,"0.4270=38/89","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320"]
["32630A(747)v743",63,28,0.4444,"32630A","ADAMTSL2","chr9:136412296","c.900C>T(exon9)","p.I300I","rs2073877",0.096,0.14,0.16,0.13,0.14,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Geleophysic发育不良1型","AR",231050,5,3,7,1,"ADAMTSL2",1,77,"同义",13203,"0.4571=32/70","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320"]
["32630A(747)v744",53,20,0.3774,"32630A","ADAMTSL2","chr9:136412346","c.939+11C>T(exon9)","非编码区","rs2073878",0.72,0.51,0.55,0.48,0.49,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Geleophysic发育不良1型","AR",231050,5,3,7,1,"ADAMTSL2",1,77,"非编码区",16203,"0.3770=23/61","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320"]
["32630A(747)v745",50,28,0.56,"32630A","ADAMTSL2","chr9:136419629","c.1090G>A(exon10)","p.V364I","rs35767802",{"$nulls":4},0.42,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"Geleophysic发育不良1型","AR",231050,3,3,7,1,"ADAMTSL2",1,77,"非同义",12320,"0.5849=31/53","位于基因组单拷贝区域+DNA结构正常",9719,"9q34.2","NM_001145320"]
["32630A(747)v746",90,90,1,"32630A","ADAMTSL3","chr15:84488636","c.437A>G(exon6)","p.H146R","rs4483821",0.68,0.8,0.79,0.81,0.8,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAMTSL3",1,160,"非同义",12220,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517"]
["32630A(747)v747",367,367,1,"32630A","ADAMTSL3","chr15:84539619","c.868C>G(exon9)","p.L290V","rs4144691",0.81,0.72,0.7,0.75,0.78,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAMTSL3",1,160,"非同义",12220,"1.0000=456/456","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517"]
["32630A(747)v748",85,85,1,"32630A","ADAMTSL3","chr15:84581904","c.1761T>C(exon16)","p.R587R","rs4842923",0.69,0.72,0.69,0.74,0.77,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAMTSL3",1,160,"同义",13203,"1.0000=91/91","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517"]
["32630A(747)v749",68,68,1,"32630A","ADAMTSL3","chr15:84582124","c.1981G>T(exon16)","p.V661L","rs4842838",0.69,0.72,0.69,0.74,0.77,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19343178;20189936",{"$nulls":3},5,null,7,0,"ADAMTSL3",1,160,"非同义",12220,"1.0000=75/75","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517"]
["32630A(747)v750",86,86,1,"32630A","ADAMTSL3","chr15:84639350","c.2605C>T(exon20)","p.L869F","rs2277849",0.26,0.33,0.35,0.31,0.37,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAMTSL3",1,160,"非同义",12220,"1.0000=95/95","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517"]
["32630A(747)v751",92,92,1,"32630A","ADAMTSL3","chr15:84651185","c.2805C>A(exon21)","p.P935P","rs8031704",0.38,0.38,0.4,0.36,0.42,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAMTSL3",1,160,"同义",13203,"1.0000=108/108","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517"]
["32630A(747)v752",71,71,1,"32630A","ADAMTSL3","chr15:84651290","c.2910T>C(exon21)","p.H970H","rs7176737",0.87,0.95,0.93,0.98,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAMTSL3",1,160,"同义",13203,"1.0000=80/80","位于基因组单拷贝区域+DNA结构正常",57188,"15q25.2","NM_207517"]
["32630A(747)v753",69,69,1,"32630A","ADAMTSL4","chr1:150526044","c.577G>C(exon6)","p.A193P","rs41317515",0.53,0.54,0.61,0.46,0.52,0.55,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",1,63,"非同义",12220,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032"]
["32630A(747)v753",69,69,1,"32630A","ADAMTSL4","chr1:150526044","c.577G>C(exon6)","p.A193P","rs41317515",0.53,0.54,0.61,0.46,0.52,0.55,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",1,63,"非同义",12220,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032"]
["32630A(747)v754",41,19,0.4634,"32630A","ADAMTSL4","chr1:150526406","c.939C>T(exon6)","p.G313G","rs6681639",0.35,0.3,0.34,0.25,0.28,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",1,63,"同义",13203,"0.4651=20/43","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032"]
["32630A(747)v754",41,19,0.4634,"32630A","ADAMTSL4","chr1:150526406","c.939C>T(exon6)","p.G313G","rs6681639",0.35,0.3,0.34,0.25,0.28,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",1,63,"同义",13203,"0.4651=20/43","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032"]
["32630A(747)v755",59,32,0.5424,"32630A","ADAMTSL4","chr1:150531008","c.2442T>C(exon15)","p.N814N","rs10888382",0.81,0.86,0.84,0.87,0.85,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,3,5,2,"ADAMTSL4",1,63,"同义",13203,"0.5714=40/70","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032"]
["32630A(747)v755",59,32,0.5424,"32630A","ADAMTSL4","chr1:150531008","c.2442T>C(exon15)","p.N814N","rs10888382",0.81,0.86,0.84,0.87,0.85,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"瞳孔晶状体异位","AR",225200,5,3,5,2,"ADAMTSL4",1,63,"同义",13203,"0.5714=40/70","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032"]
["32630A(747)v756",64,64,1,"32630A","ADAMTSL4","chr1:150531050","c.2484G>A(exon15)","p.P828P","rs10749657",0.88,0.98,0.99,0.98,0.98,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",1,63,"同义",13203,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032"]
["32630A(747)v756",64,64,1,"32630A","ADAMTSL4","chr1:150531050","c.2484G>A(exon15)","p.P828P","rs10749657",0.88,0.98,0.99,0.98,0.98,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",1,63,"同义",13203,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_019032"]
["32630A(747)v757",61,61,1,"32630A","ADAMTSL4","chr1:150531170","c.2604C>T(exon15)","p.H868H","rs10749658",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",1,63,"同义",13203,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_025008"]
["32630A(747)v757",61,61,1,"32630A","ADAMTSL4","chr1:150531170","c.2604C>T(exon15)","p.H868H","rs10749658",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",1,63,"同义",13203,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",54507,"1q21.3","NM_025008"]
["32630A(747)v758",5,2,0.4,"32630A","ADAMTSL5","chr19:1505874","c.*140A>G(exon12)","非编码区","rs197198",0.48,0.46,0.42,0.5,0.38,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTSL5",1,60,"非编码区",14200,"0.4000=2/5","位于基因组单拷贝区域+DNA结构正常",339366,"19p13.3","NM_213604"]
["32630A(747)v759",19,19,1,"32630A","ADAMTSL5","chr19:1510661","c.168T>C(exon3)","p.S56S","rs265291",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTSL5",1,60,"同义",13203,"1.0000=21/21","位于基因组单拷贝区域+DNA结构正常",339366,"19p13.3","NM_213604"]
["32630A(747)v760",10,3,0.3,"32630A","ADAMTSL5","chr19:1511112","c.-170T>C(exon2)","非编码区","rs72985590",0.21,0.43,0.46,0.39,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTSL5",1,60,"非编码区",14200,"0.2727=3/11","位于基因组单拷贝区域+DNA结构正常",339366,"19p13.3","NM_213604"]
["32630A(747)v761",3,2,0.6667,"32630A","ADAP1","chr7:938282","c.*276C>T(exon11)","非编码区","rs77474447",0.15,0.27,0.26,0.28,0.3,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非编码区",14200,"0.6667=2/3","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869"]
["32630A(747)v762",28,28,1,"32630A","ADAP1","chr7:940181","c.721G>A(exon7)","p.G241S","rs10256887",0.87,0.88,0.89,0.88,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非同义",12230,"1.0000=31/31","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869"]
["32630A(747)v763",33,12,0.3636,"32630A","ADAP1","chr7:940258-940259","c.649-6(exon7)_c.649-5(exon7)insTGCCTTTGCC","非编码区","rs113839920",0.47,0.4,0.43,0.38,0.078,0.44,"杂合","未知","内含子突变",{"$nulls":4},4,null,6,0,"ADAP1",1,52,"非编码区",2500,"0.3846=15/39","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869"]
["32630A(747)v764",34,34,1,"32630A","ADAP1","chr7:940267","c.649-14A>G(exon7)","非编码区","rs3824079",0.67,0.57,0.6,0.55,0.54,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非编码区",16202,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869"]
["32630A(747)v765",44,44,1,"32630A","ADAP1","chr7:944683","c.501+14G>A(exon5)","非编码区","rs1881121",0.9,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非编码区",16203,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869"]
["32630A(747)v766",40,21,0.525,"32630A","ADAP1","chr7:959692","c.306-5C>T(exon4)","非编码区","rs6962883",0.12,0.25,0.25,0.26,0.27,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非编码区",16202,"0.5349=23/43","位于基因组单拷贝区域+DNA结构正常",11033,"7p22.3","NM_006869"]
["32630A(747)v767",60,38,0.6333,"32630A","ADAP2","chr17:29250044","c.181G>A(exon2)","p.V61I","rs148209227",0.0002,0.0024,0,0.0049,0.00052,3.5E-4,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"ADAP2",1,110,"非同义",12120,"0.6176=42/68","位于基因组单拷贝区域+DNA结构正常",55803,"17q11.2","NM_018404"]
["32630A(747)v768",51,18,0.3529,"32630A","ADARB1","chr21:46641968","c.2082G>A(exon12)","p.K694K","rs1051367",0.49,0.57,0.6,0.55,0.56,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADARB1",1,110,"同义",13203,"0.3393=19/56","位于基因组单拷贝区域+DNA结构正常",104,"21q22.3","NM_015833"]
["32630A(747)v769",2,2,1,"32630A","ADARB1","chr21:46644986-46644990","c.*2874(exon12)_c.*2878(exon12)delTTGTT","非编码区","rs6487",{"$nulls":4},0,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ADARB1",1,110,"非编码区",2430,"1.0000=2/2","位于基因组单拷贝区域+简单重复结构",104,"21q22.3","NM_015833"]
["32630A(747)v770",16,10,0.625,"32630A","ADARB2","chr10:1229009","c.*124C>T(exon10)","非编码区","rs904960",0.65,0.7,0.72,0.69,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADARB2",1,50,"非编码区",14200,"0.6471=11/17","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702"]
["32630A(747)v771",48,21,0.4375,"32630A","ADARB2","chr10:1230968","c.1876G>A(exon9)","p.A626T","rs2271275",0.54,0.65,0.65,0.66,0.58,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17544380,{"$nulls":3},5,null,6,0,"ADARB2",1,50,"非同义",12220,"0.4364=24/55","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702"]
["32630A(747)v772",54,54,1,"32630A","ADARB2","chr10:1245893","c.1864+13T>G(exon8)","非编码区","rs1983028",null,0.67,0.65,0.69,null,0.67,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,6,0,"ADARB2",1,50,"非编码区",16303,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702"]
["32630A(747)v773",22,22,1,"32630A","ADARB2","chr10:1263076","c.1514-17G>A(exon7)","非编码区","rs3750677",0.35,0.38,0.36,0.4,null,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADARB2",1,50,"非编码区",16202,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702"]
["32630A(747)v774",156,62,0.3974,"32630A","ADARB2","chr10:1421326","c.130G>A(exon2)","p.A44T","rs3793733",0.05,0.12,0.14,0.11,0.14,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADARB2",1,50,"非同义",12220,"0.3876=69/178","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702"]
["32630A(747)v775",8,8,1,"32630A","ADARB2","chr10:1779498","c.-154A>G(exon1)","非编码区","rs3750683",0.29,0.42,0.44,0.4,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADARB2",1,50,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",105,"10p15.3","NM_018702"]
["32630A(747)v776",86,52,0.6047,"32630A","ADAR","chr1:154557685","c.2558+8G>A(exon14)","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"非编码区",16203,"0.6111=55/90","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001193495"]
["32630A(747)v776",86,52,0.6047,"32630A","ADAR","chr1:154557685","c.2558+8G>A(exon14)","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,5,2,"ADAR",1,96,"非编码区",16203,"0.6111=55/90","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001193495"]
["32630A(747)v777",60,60,1,"32630A","ADAR","chr1:154573967","c.266A>G(exon2)","p.K89R","rs2229857",0.62,0.67,0.69,0.65,0.7,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","25098560;19434718;21939710","遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"非同义",12220,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001193495","rs2229857|\"IFN_gamma_response_to_Rubella_association_with\"|25098560;LYS384ARG|\"IFN_gamma_response_to_Rubella_association_with\"|25098560","rs2229857|Benign|NA|NA|criteria provided, single submitter|NA;LYS384ARG|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v777",60,60,1,"32630A","ADAR","chr1:154573967","c.266A>G(exon2)","p.K89R","rs2229857",0.62,0.67,0.69,0.65,0.7,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","25098560;19434718;21939710","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,5,2,"ADAR",1,96,"非同义",12220,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001193495","rs2229857|\"IFN_gamma_response_to_Rubella_association_with\"|25098560;LYS384ARG|\"IFN_gamma_response_to_Rubella_association_with\"|25098560","rs2229857|Benign|NA|NA|criteria provided, single submitter|NA;LYS384ARG|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v778",88,88,1,"32630A","ADAR","chr1:154574820","c.298A>G(exon2)","p.R100G","rs1466731",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"非同义",12230,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111"]
["32630A(747)v778",88,88,1,"32630A","ADAR","chr1:154574820","c.298A>G(exon2)","p.R100G","rs1466731",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,5,2,"ADAR",1,96,"非同义",12230,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111"]
["32630A(747)v779",33,33,1,"32630A","ADAR","chr1:154575040","c.78G>A(exon2)","p.R26R","rs1802645",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"同义",13203,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111"]
["32630A(747)v779",33,33,1,"32630A","ADAR","chr1:154575040","c.78G>A(exon2)","p.R26R","rs1802645",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,5,2,"ADAR",1,96,"同义",13203,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111"]
["32630A(747)v780",49,24,0.4898,"32630A","ADAR","chr1:154580458","c.15+10G>T(exon1)","非编码区","rs58655370",0.3,0.12,0.15,0.097,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"非编码区",16203,"0.5000=28/56","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111",null,"rs58655370|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v780",49,24,0.4898,"32630A","ADAR","chr1:154580458","c.15+10G>T(exon1)","非编码区","rs58655370",0.3,0.12,0.15,0.097,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,5,2,"ADAR",1,96,"非编码区",16203,"0.5000=28/56","位于基因组单拷贝区域+DNA结构正常",103,"1q21.3","NM_001111",null,"rs58655370|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v781",2,2,1,"32630A","ADAT1","chr16:75633712","c.*402T>C(exon11)","非编码区","rs11149842",0.43,0.78,0.76,0.8,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAT1",1,98,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091"]
["32630A(747)v782",64,64,1,"32630A","ADAT1","chr16:75646576","c.608C>A(exon7)","p.T203N","rs3743599",0.27,0.74,0.73,0.75,0.74,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAT1",1,98,"非同义",12220,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091"]
["32630A(747)v783",32,32,1,"32630A","ADAT1","chr16:75646685","c.499C>A(exon7)","p.H167N","rs3743598",0.57,0.81,0.82,0.81,0.81,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16251468,{"$nulls":3},5,null,3,0,"ADAT1",1,98,"非同义",12220,"1.0000=41/41","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091"]
["32630A(747)v784",14,8,0.5714,"32630A","ADAT3","chr19:1912934","c.888T>C(exon2)","p.T296T","rs12984675",0.36,0.41,0.42,0.4,0.43,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传性精神智力发育迟滞36型","AR",615286,5,3,2,1,"ADAT3",1,11,"同义",13203,"0.5714=8/14","位于基因组单拷贝区域+DNA结构正常",113179,"19p13.3","NM_138422"]
["32630A(747)v785",16,7,0.4375,"32630A","ADAT3","chr19:1912986","c.940C>T(exon2)","p.L314L","rs76159002",0.24,0.22,0.24,0.19,0.24,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传性精神智力发育迟滞36型","AR",615286,5,3,2,1,"ADAT3",1,11,"同义",13203,"0.4375=7/16","位于基因组单拷贝区域+DNA结构正常",113179,"19p13.3","NM_138422"]
["32630A(747)v786",68,68,1,"32630A","ADA","chr20:43264927","c.36G>A(exon2)","p.V12V","rs394105",0.98,1,1,1,0.94,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","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",1,92,"同义",13202,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",100,"20q13.12","NM_000022",null,"rs394105|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v787",13,5,0.3846,"32630A","ADA","chr20:43280227","c.22G>A(exon1)","p.D8N","rs73598374",0.051,0.062,0.057,0.068,0.028,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8031011;16221767;21734253;21865054;24682206","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",1,92,"非同义",11200,"0.3571=5/14","位于基因组单拷贝区域+DNA结构正常",100,"20q13.12","NM_000022","ASP8ASN|\"Deep_sleep_duration_and_intensity_association_with\"|16221767","ASP8ASN|Pathogenic|NA|OMIM:608958.0021|no assertion criteria provided|PubMed:8031011","ASP8ASN|none|608958.0021.1"]
["32630A(747)v788",63,37,0.5873,"32630A","ADCK1","chr14:78365612","c.741+11C>T(exon6)","非编码区","rs2287650",0.37,0.43,0.41,0.46,0.41,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADCK1",1,83,"非编码区",16203,"0.5909=39/66","位于基因组单拷贝区域+DNA结构正常",57143,"14q24.3","NM_020421"]
["32630A(747)v789",88,43,0.4886,"32630A","ADCK1","chr14:78390880","c.939T>C(exon8)","p.N313N","rs2302944",0.23,0.29,0.29,0.29,0.3,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADCK1",1,83,"同义",13203,"0.4615=48/104","位于基因组单拷贝区域+DNA结构正常",57143,"14q24.3","NM_020421"]
["32630A(747)v790",7,3,0.4286,"32630A","ADCK1","chr14:78399867","c.*133T>C(exon11)","非编码区","rs3087972",0.48,0.41,0.4,0.42,0.45,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADCK1",1,83,"非编码区",14200,"0.3333=3/9","位于基因组单拷贝区域+DNA结构正常",57143,"14q24.3","NM_020421"]
["32630A(747)v791",37,37,1,"32630A","ADCK4","chr19:41211056","c.521A>G(exon7)","p.H174R","rs3865452",0.48,0.45,0.41,0.49,0.44,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肾病综合征（NS）9型","AR",615573,5,1,1,1,"ADCK4",1,88,"非同义",12220,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",79934,"19q13.2","NM_024876"]
["32630A(747)v792",25,24,0.96,"32630A","ADCK5","chr8:145603114","c.51A>C(exon2)","p.R17S","rs6599528",0.63,0.66,0.7,0.62,0.6,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADCK5",1,41,"非同义",12220,"0.9667=29/30","位于基因组单拷贝区域+DNA结构正常",203054,"8q24.3","NM_174922"]
["32630A(747)v793",13,13,1,"32630A","ADCK5","chr8:145617535-145617549","c.1257(exon12)_c.1267+4(exon12)delGGGGGTGCAAGGTGA","p.L419Lfs*84","rs148509143",null,0.66,0.69,0.62,0,0.51,"纯合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,4,0,"ADCK5",1,41,"移码",2130,"1.0000=13/13","位于基因组单拷贝区域+简单重复结构",203054,"8q24.3","NM_174922"]
["32630A(747)v794",19,19,1,"32630A","ADCK5","chr8:145618309","c.*20G>A(exon15)","非编码区","rs1052951",0.46,0.68,0.7,0.65,0.65,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADCK5",1,41,"非编码区",14200,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",203054,"8q24.3","NM_174922"]
["32630A(747)v795",19,19,1,"32630A","ADCK5","chr8:145618312","c.*23G>A(exon15)","非编码区","rs1052952",0.45,0.68,0.7,0.65,0.65,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADCK5",1,41,"非编码区",14200,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",203054,"8q24.3","NM_174922"]
["32630A(747)v796",89,36,0.4045,"32630A","ADCY10","chr1:167815030","c.2778T>C(exon21)","p.I926I","rs12048517",0.088,0.24,0.23,0.25,0.21,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,140,"同义",13203,"0.4100=41/100","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_018417"]
["32630A(747)v797",107,107,1,"32630A","ADCY10","chr1:167817639","c.2397T>C(exon19)","p.G799G","rs203795",0.82,0.85,0.82,0.87,0.84,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"吸收性高钙尿症2型","AD",143870,5,1,6,1,"ADCY10",1,140,"同义",13203,"1.0000=123/123","位于基因组单拷贝区域+DNA结构正常",55811,"1q24","NM_018417"]
["32630A(747)v802",131,131,1,"32630A","ADCY2","chr5:7695845","c.870-20C>A(exon6)","非编码区","rs11134251",0.6,0.79,0.8,0.78,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADCY2",1,140,"非编码区",16202,"1.0000=152/152","位于基因组单拷贝区域+DNA结构正常",108,"5p15.3","NM_020546"]
["32630A(747)v853",128,128,1,"32630A","ADH4","chr4:100048506","c.844-11C>T(exon7)","非编码区","rs6836440",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18331377,{"$nulls":3},5,null,7,0,"ADH4",1,180,"非编码区",16202,"1.0000=149/149","位于基因组单拷贝区域+DNA结构正常",127,"4q22","NM_000670"]
["32630A(747)v898",23,23,1,"32630A","ADRB2","chr5:148206348","c.-47C>T(exon1)","非编码区","rs1042711",0.79,0.92,0.95,0.89,0.9,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","10323412;17512307;18709160;19284637;22158330","哮喘，易感","AD",600807,5,1,8,2,"ADRB2",1,81,"非编码区",14200,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",154,"5q31-q32","NM_000024","rs1042711|\"Obesity_and_diabetes_type_2_association_with\"|10323412"]
["32630A(747)v920",2,2,1,"32630A","AEN","chr15:89173732","c.*207T>C(exon4)","非编码区","rs3743474",0.98,0.96,0.95,0.97,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AEN",1,49,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767"]
["32630A(747)v983",105,45,0.4286,"32630A","AGBL1","chr15:86800209","c.723C>T(exon7)","p.P241P","rs1353578",0.54,0.25,0.24,0.25,0.21,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,10,1,"AGBL1",1,130,"同义",13203,"0.4298=49/114","位于基因组单拷贝区域+DNA结构正常",123624,"15q25.3","NM_152336"]
["32630A(747)v1028",40,40,1,"32630A","AGRN","chr1:987200","c.5651+5C>T(exon33)","非编码区","rs9803031",0.79,1,0.99,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"先天性重症肌无力综合征伴突触前和突触后缺陷","AR",615120,5,1,15,1,"AGRN",1,44,"非编码区",16202,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",375790,"1p36.33","NM_198576",null,"rs9803031|Benign|NA|NA|criteria provided, single submitter|PubMed:18414213"]
["32630A(747)v1038",47,19,0.4043,"32630A","AGT","chr1:230840096","c.1125-13A>G(exon4)","非编码区","rs1926723",0.13,0.32,0.3,0.35,0.36,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22739771,"子痫前期/子痫1型","AD",189800,5,1,4,3,"AGT",1,68,"非编码区",16202,"0.3958=19/48","位于基因组单拷贝区域+DNA结构正常",183,"1q42.2","NM_000029"]
["32630A(747)v1094",185,72,0.3892,"32630A","AHNAK2","chr14:105415200","c.6588C>G(exon7)","p.L2196L","rs10145566",0.29,0.12,0.11,0.12,0.1,0.078,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,68,0,"AHNAK2",0.99,190,"同义",13203,"0.3991=89/223","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420"]
["32630A(747)v1113",4,3,0.75,"32630A","AHNAK2","chr14:105417366-105417367","c.4421(exon7)_c.4422(exon7)insTG","p.R1474Rfs*14","rs777941668",{"$nulls":5},1.2E-4,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,68,0,"AHNAK2",0.99,190,"移码",2130,"0.7500=3/4","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420"]
["32630A(747)v1159",25,13,0.52,"32630A","AIM1L","chr1:26671248","c.1901T>C(exon2)","p.V634A","rs57268417",0.18,0.16,0.13,0.2,0.2,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"AIM1L",0.93,48,"非同义",12220,"0.5200=13/25","位于基因组单拷贝区域+DNA结构正常",55057,"1p36.11","NM_001039775"]
["32630A(747)v1216",93,47,0.5054,"32630A","AKAP13","chr15:86122779","c.1480T>C(exon7)","p.W494R","rs2061822",0.6,0.57,0.61,0.53,0.53,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"AKAP13",0.99,120,"非同义",12220,"0.5093=55/108","位于基因组单拷贝区域+DNA结构正常",11214,"15q24-q25","NM_006738"]
["32630A(747)v1248",56,56,1,"32630A","AKAP3","chr12:4737318","c.750T>C(exon4)","p.N250N","rs7960207",0.82,0.69,0.7,0.67,0.69,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"AKAP3",1,75,"同义",13203,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",10566,"12p13.3","NM_006422"]
["32630A(747)v1291",124,60,0.4839,"32630A","AKNAD1","chr1:109394978","c.309C>T(exon2)","p.D103D","rs17563390",0.12,0.16,0.2,0.12,0.18,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"AKNAD1",1,120,"同义",13203,"0.4966=73/147","位于基因组单拷贝区域+DNA结构正常",254268,"1p13.3","NM_152763"]
["32630A(747)v1309",187,99,0.5294,"32630A","AKR1C2","chr10:5042664","c.370-12G>A(exon4)","非编码区","rs2275929",0.16,0.3,0.32,0.27,0.25,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"46,XY女性性反转综合征8","AR",614279,5,3,4,1,"AKR1C2",1,330,"非编码区",16202,"0.5261=111/211","位于基因组多拷贝区域+DNA结构正常",1646,"10p15-p14","NM_001135241"]
["32630A(747)v1366",67,67,1,"32630A","ALDH3B2","chr11:67433869","c.155G>A(exon5)","p.S52N","rs1551888",0.87,0.94,0.95,0.92,0.9,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ALDH3B2",1,110,"非同义",12220,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",222,"11q13","NM_000695"]
["32630A(747)v1407",46,20,0.4348,"32630A","ALG3","chr3:183960252","c.*50T>G(exon9)","非编码区","rs706584",0.25,0.19,0.24,0.14,0.15,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性糖基化病1D型","AR",601110,5,3,2,1,"ALG3",1,85,"非编码区",14200,"0.4118=21/51","位于基因组单拷贝区域+DNA结构正常",10195,"3q27.1","NM_001006941"]
["32630A(747)v1441",113,55,0.4867,"32630A","ALMS1","chr2:73716810","c.7721G>A(exon10)","p.S2574N","rs3820700",0.13,0.21,0.2,0.22,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16601972;19279085","ALSTROM 综合征（肥胖-视网膜变性-糖尿病综合征）","AR",203800,5,3,8,1,"ALMS1",1,130,"非同义",12230,"0.5039=65/129","位于基因组单拷贝区域+DNA结构正常",7840,"2p13","NM_015120"]
["32630A(747)v1498",62,27,0.4355,"32630A","ALPK2","chr18:56247180","c.828A>G(exon4)","p.L276L","rs9958735",0.51,0.63,0.6,0.67,0.61,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,33,0,"ALPK2",1,90,"同义",13203,"0.4507=32/71","位于基因组单拷贝区域+DNA结构正常",115701,"18q21.31","NM_052947"]
["32630A(747)v1531",93,93,1,"32630A","ALS2","chr2:202575821","c.4015C>T(exon26)","p.L1339L","rs3219168",0.91,0.98,0.98,0.97,0.99,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"青少年原发性侧索硬化","AR",606353,5,1,4,3,"ALS2",1,150,"同义",13203,"1.0000=107/107","位于基因组单拷贝区域+DNA结构正常",57679,"2q33.1","NM_020919"]
["32630A(747)v1552",93,93,1,"32630A","AMICA1","chr11:118074337","c.548T>C(exon5)","p.V183A","rs1793174",0.8,0.68,0.69,0.68,0.67,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AMICA1",1,110,"非同义",12220,"1.0000=98/98","位于基因组单拷贝区域+DNA结构正常",120425,"11q23.3","NM_153206"]
["32630A(747)v1609",154,154,1,"32630A","ANKFN1","chr17:54450038","c.642C>A(exon6)","p.L214L","rs957724",0.62,0.99,1,0.98,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ANKFN1",1,170,"同义",13203,"0.9947=187/188","位于基因组单拷贝区域+DNA结构正常",162282,"17q22","NM_153228"]
["32630A(747)v1622",16,11,0.6875,"32630A","ANKLE1","chr19:17392629","c.-101G>A(exon1)","非编码区","rs35586766",0.16,0.18,0.2,0.16,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ANKLE1",1,52,"非编码区",14200,"0.7059=12/17","位于基因组单拷贝区域+DNA结构正常",126549,"19p13.11","NM_152363"]
["32630A(747)v1665",57,57,1,"32630A","ANKRD18B","chr9:33524684","c.197G>A(exon1)","p.R66K","rs3843933",0.75,0.87,0.86,0.87,null,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ANKRD18B",null,null,"非同义",12220,"1.0000=61/61","位于基因组多拷贝区域+DNA结构正常",441459,"9p13.3","NM_001244752"]
["32630A(747)v1693",7,4,0.5714,"32630A","ANKRD20A2","chr9:42410537","c.*54A>C(exon15)","非编码区","rs768739711",{"$nulls":4},0.48,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ANKRD20A2",0.98,270,"非编码区",14300,"0.5000=4/8","位于基因组多拷贝区域+DNA结构正常",441430,"9p12","NM_001012421"]
["32630A(747)v1763",341,144,0.4223,"32630A","ANKRD30B","chr18:14848935","c.3038+7C>T(exon34)","非编码区","rs3878726",0.47,0.44,0.42,0.45,0.44,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ANKRD30B",1,320,"非编码区",16203,"0.4419=175/396","位于基因组多拷贝区域+DNA结构正常",374860,"18p11.21","NM_001145029"]
["32630A(747)v1810",358,162,0.4525,"32630A","ANKRD36B","chr2:98164184","c.1488G>C(exon21)","p.E496D","rs13001728",0.29,0.2,0.18,0.23,0.25,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ANKRD36B",1,420,"非同义",12220,"0.4425=204/461","位于基因组多拷贝区域+DNA结构正常",57730,"2q11.2","NM_025190"]
["32630A(747)v1825",976,203,0.208,"32630A","ANKRD36C","chr2:96517958-96517959","c.5638-15(exon73)_c.5638-14(exon73)delAA","非编码区",{"$nulls":7},"杂合","未知","内含子突变",{"$nulls":4},4,null,91,0,"ANKRD36C",null,null,"非编码区",2500,"0.2119=252/1189","位于基因组多拷贝区域+DNA结构正常",400986,"2q11.1","XM_001717763"]
["32630A(747)v1892",148,96,0.6486,"32630A","ANKRD36C","chr2:96616485","c.1193+12G>C(exon14)","非编码区","rs78218362",{"$nulls":5},0.3,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,91,0,"ANKRD36C",null,null,"非编码区",16303,"0.6416=111/173","位于基因组多拷贝区域+DNA结构正常",400986,"2q11.1","XM_001717763"]
["32630A(747)v1942",32,17,0.5312,"32630A","ANKRD53","chr2:71212129","c.1292A>T(exon6)","p.H431L","rs3796100",0.14,0.19,0.19,0.2,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ANKRD53",1,56,"非同义",12210,"0.5455=18/33","位于基因组单拷贝区域+DNA结构正常",79998,"2p13.3","NM_001115116"]
["32630A(747)v1949",108,47,0.4352,"32630A","ANKRD60","chr20:56796528","c.761T>A(exon4)","p.F254Y","rs6015225",0.14,0.2,0.2,0.19,0.24,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ANKRD60",0.83,73,"非同义",12220,"0.3967=48/121","位于基因组单拷贝区域+DNA结构正常",140731,"20q13.32","XM_001134442"]
["32630A(747)v2009",63,37,0.5873,"32630A","ANO9","chr11:428704","c.1020+18C>T(exon12)","非编码区","rs200640595",0.0002,0,0,0,null,0,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,6,0,"ANO9",1,64,"非编码区",16103,"0.5833=42/72","位于基因组单拷贝区域+DNA结构正常",338440,"11p15.5","NM_001012302"]
["32630A(747)v2041",181,181,1,"32630A","ANXA13","chr8:124696867","c.937G>A(exon11)","p.V313I","rs2294015",0.7,0.53,0.52,0.53,0.5,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19369658;21184583",{"$nulls":3},5,null,4,0,"ANXA13",1,150,"非同义",12220,"1.0000=203/203","位于基因组单拷贝区域+DNA结构正常",312,"8q24.13","NM_001003954"]
["32630A(747)v2082",52,19,0.3654,"32630A","AP1M1","chr19:16344291","c.1084-13G>A(exon11)","非编码区","rs45549543",0.01,0.0024,0.0048,0,0.0017,0.00021,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"AP1M1",1,86,"非编码区",16102,"0.3793=22/58","位于基因组单拷贝区域+DNA结构正常",8907,"19p13.12","NM_001130524"]
["32630A(747)v2139",3,3,1,"32630A","APCDD1","chr18:10488450","c.*415G>A(exon5)","非编码区","rs1045648",0.11,0.2,0.2,0.2,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"稀毛症1型",null,605389,5,1,7,1,"APCDD1",1,76,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",147495,"18p11.22","NM_153000"]
["32630A(747)v2143",105,105,1,"32630A","APC","chr5:112175770","c.4479G>A(exon17)","p.T1493T","rs41115",0.67,0.8,0.78,0.81,0.81,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;14724163;16569251;19777185;20333795","遗传性硬纤维瘤病","AD",135290,5,1,7,5,"APC",0.98,140,"同义",13203,"1.0000=114/114","位于基因组单拷贝区域+DNA结构正常",324,"5q21-q22","NM_001127510",null,"rs41115|Benign;other|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32630A(747)v2184",102,59,0.5784,"32630A","APOBEC3B","chr22:39381999","c.357T>C(exon3)","p.S119S","rs2076111",{"$nulls":4},0.76,0.66,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"APOBEC3B",1,160,"同义",13303,"0.5929=67/113","位于基因组多拷贝区域+DNA结构正常",9582,"22q13.1-q13.2","NM_004900"]
["32630A(747)v2197",4,4,1,"32630A","APOBEC3F","chr22:39449503","c.*803G>T(exon7)","非编码区","rs5750734",0.67,0.7,0.7,0.71,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"APOBEC3F",1,150,"非编码区",14200,"1.0000=4/4","位于基因组多拷贝区域+DNA结构正常",200316,"22q13.1","NM_145298"]
["32630A(747)v2253",4,4,1,"32630A","APOLD1","chr12:12939892","c.146G>A(exon2)","p.R49Q","rs4763876",0.058,0.022,0.029,0.015,null,0.088,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"APOLD1",1,21,"非同义",12220,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",81575,"12p13.1","NM_001130415"]
["32630A(747)v2287",97,40,0.4124,"32630A","AQP7","chr9:33387073","c.162C>T(exon4)","p.S54S","rs73645276",0.0002,0,0,0,0.5,0.49,"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",614411,4,3,11,1,"AQP7",1,110,"同义",13103,"0.4112=44/107","位于基因组多拷贝区域+DNA结构正常",364,"9p13","NM_001170"]
["32630A(747)v2322",39,22,0.5641,"32630A","ARFGEF2","chr20:47604825","c.2277-16G>A(exon17)","非编码区","rs4810905",0.29,0.55,0.55,0.54,null,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脑室周围结节状异位2型/常染色体隐性脑室周围结节状灰质异位（伴小头畸形）","AR",608097,5,3,5,1,"ARFGEF2",1,140,"非编码区",16202,"0.5686=29/51","位于基因组单拷贝区域+DNA结构正常",10564,"20q13.13","NM_006420"]
["32630A(747)v2385",5,2,0.4,"32630A","ARHGAP39","chr8:145771169","c.1985A>C(exon7)","p.Q662P",{"$nulls":7},"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,3,0,"ARHGAP39",1,37,"非同义",12410,"0.4000=2/5","位于基因组单拷贝区域+DNA结构正常",80728,"8q24.3","NM_025251"]
["32630A(747)v2397",241,129,0.5353,"32630A","ARHGAP42","chr11:100859439","c.2537-5G>A(exon24)","非编码区","rs524811",0.21,0.33,0.39,0.27,0.33,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ARHGAP42",1,210,"非编码区",16202,"0.5357=150/280","位于基因组单拷贝区域+DNA结构正常",143872,"11q22.1","NM_152432"]
["32630A(747)v2442",8,8,1,"32630A","ARHGEF18","chr19:7504669","c.-158C>T(exon1)","非编码区","rs11668829",0.35,0.4,0.42,0.38,0.33,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ARHGEF18",1,61,"非编码区",14200,"1.0000=11/11","位于基因组单拷贝区域+DNA结构正常",23370,"19p13.3","NM_001130955"]
["32630A(747)v2514",63,30,0.4762,"32630A","ARID3C","chr9:34622389","c.1003T>G(exon5)","p.C335G","rs3808869",0.6,0.51,0.55,0.48,0.53,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ARID3C",1,49,"非同义",12220,"0.4459=33/74","位于基因组单拷贝区域+DNA结构正常",138715,"9p13.3","NM_001017363"]
["32630A(747)v2529",92,92,1,"32630A","ARL13A","chrX:100245606","c.*334A>G(exon9)","非编码区","rs6523438",null,0.95,0.94,0.96,0.92,0.94,"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ARL13A",1,76,"非编码区",14300,"1.0000=111/111","位于基因组单拷贝区域+DNA结构正常",392509,"Xq22.1","NM_001162490"]
["32630A(747)v2569",51,51,1,"32630A","ARMCX2","chrX:100911066","c.1509G>A(exon6)","p.Q503Q","rs3850315",null,1,1,1,0.98,1,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ARMCX2",1,39,"同义",13303,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",9823,"Xq21.33-q22.2","NM_177949"]
["32630A(747)v2600",48,16,0.3333,"32630A","ARSG","chr17:66364749","c.765T>C(exon7)","p.P255P","rs1558877",0.51,0.29,0.29,0.3,0.31,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ARSG",1,90,"同义",13203,"0.3091=17/55","位于基因组单拷贝区域+DNA结构正常",22901,"17q24.2","NM_014960"]
["32630A(747)v2654",113,113,1,"32630A","ASB13","chr10:5682641","c.*25G>A(exon6)","非编码区","rs7896492",0.98,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ASB13",0.99,81,"非编码区",14200,"1.0000=127/127","位于基因组单拷贝区域+DNA结构正常",79754,"10p15.1","NM_024701"]
["32630A(747)v2702",65,32,0.4923,"32630A","ASF1A","chr6:119215706","c.109+20G>A(exon1)","非编码区","rs150975405",0.098,0.2,0.16,0.25,0.18,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ASF1A",1,220,"非编码区",16203,"0.4337=36/83","位于基因组单拷贝区域+DNA结构正常",25842,"6q22.31","NM_014034"]
["32630A(747)v2711",51,51,1,"32630A","ASIC1","chr12:50452708","c.159C>G(exon2)","p.S53S","rs653576",0.93,0.84,0.83,0.85,0.86,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ASIC1",0.76,49,"同义",13203,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",41,"12q12","NM_020039"]
["32630A(747)v2774",128,128,1,"32630A","ASXL3","chr18:31320229","c.2861A>G(exon11)","p.N954S","rs2282632",0.7,0.9,0.9,0.91,0.92,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Bainbridge-Ropers综合征","AD",615485,5,1,3,1,"ASXL3",1,140,"非同义",12220,"1.0000=139/139","位于基因组单拷贝区域+DNA结构正常",80816,"18q11","NM_030632"]
["32630A(747)v2806",54,26,0.4815,"32630A","ATAD5","chr17:29159404","c.39G>C(exon1)","p.P13P","rs999796",0.29,0.12,0.12,0.13,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ATAD5",1,190,"同义",13203,"0.5167=31/60","位于基因组单拷贝区域+DNA结构正常",79915,"17q11.2","NM_024857"]
["32630A(747)v2845",82,53,0.6463,"32630A","ATG16L2","chr11:72539782","c.1631G>A(exon16)","p.G544D",{"$nulls":7},"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,3,0,"ATG16L2",1,63,"非同义",12410,"0.6458=62/96","位于基因组单拷贝区域+DNA结构正常",89849,"11q13.4","NM_033388"]
["32630A(747)v2903",59,59,1,"32630A","ATP11C","chrX:138897130","c.342T>G(exon5)","p.C114W","rs2491014",null,1,1,1,0.98,1,"半合子","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"ATP11C",1,120,"非同义",12330,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",286410,"Xq27.1","NM_173694"]
["32630A(747)v2931",68,68,1,"32630A","ATP1A2","chr1:160093222","c.381+16C>T(exon4)","非编码区","rs2820581",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","儿童交替性偏瘫1型","AD",104290,5,1,2,2,"ATP1A2",1,110,"非编码区",16203,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",477,"1q23.2","NM_000702",null,"rs2820581|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v2972",34,17,0.5,"32630A","ATP2C2","chr16:84402275","c.54G>C(exon1)","p.G18G","rs62048787",0.42,0.5,0.49,0.52,0.51,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ATP2C2",1,120,"同义",13203,"0.4722=17/36","位于基因组单拷贝区域+DNA结构正常",9914,"16q24.1","NM_014861"]
["32630A(747)v3017",140,59,0.4214,"32630A","ATP6V0A4","chr7:138417791","c.1739T>C(exon17)","p.M580T","rs3807153",0.11,0.046,0.038,0.053,0.047,0.053,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",10973252,"AR远端肾小管性酸中毒",null,602722,5,2,5,1,"ATP6V0A4",1,150,"非同义",11200,"0.4036=67/166","位于基因组单拷贝区域+DNA结构正常",50617,"7q34","NM_020632","MET580THR|\"Distal_renal_tubular_acidosis_autosomal_recessive\"|10973252","MET580THR|Pathogenic|OMIM:602722|OMIM:605239.0005|no assertion criteria provided|PubMed:10973252","MET580THR|602722|605239.0005.1","MET580THR|Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]"]
["32630A(747)v3036",93,93,1,"32630A","ATP6V1C2","chr2:10908893","c.427A>G(exon6)","p.N143D","rs1198849",0.45,0.62,0.64,0.61,0.59,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ATP6V1C2",1,140,"非同义",12210,"1.0000=106/106","位于基因组单拷贝区域+DNA结构正常",245973,"-","NM_001039362"]
["32630A(747)v3062",74,28,0.3784,"32630A","ATP8B2","chr1:154310048","c.1062C>G(exon12)","p.L354L","rs1760795",0.43,0.66,0.68,0.64,0.62,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ATP8B2",1,80,"同义",13203,"0.3580=29/81","位于基因组单拷贝区域+DNA结构正常",57198,"1q21.3","NM_001005855"]
["32630A(747)v3095",268,134,0.5,"32630A","ATR","chr3:142277536","c.1815T>C(exon8)","p.D605D","rs2227929",0.31,0.38,0.33,0.44,0.36,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;17010193","家族性皮肤毛细血管扩张症和癌综合征","AD",614564,5,1,6,2,"ATR",1,180,"同义",13203,"0.5032=156/310","位于基因组单拷贝区域+DNA结构正常",545,"3q23","NM_001184",null,"rs2227929|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213"]
["32630A(747)v3156",27,27,1,"32630A","AXIN2","chr17:63533768","c.1386C>T(exon6)","p.P462P","rs1133683",0.45,0.35,0.32,0.37,0.33,0.4,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21069480;25013500","少牙畸形结直肠癌综合征","AD",608615,5,1,3,2,"AXIN2",1,80,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",8313,"17q23-q24","NM_004655"]
["32630A(747)v3164",19,19,1,"32630A","AZI1","chr17:79173184","c.1189A>G(exon10)","p.T397A","rs2659015",0.94,0.96,0.95,0.96,0.95,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AZI1",1,42,"非同义",12220,"1.0000=20/20","位于基因组单拷贝区域+DNA结构正常",22994,"17q25.3","NM_014984"]
["32630A(747)v3220",11,3,0.2727,"32630A","B4GALT3","chr1:161141432","c.*174G>C(exon8)","非编码区","rs6779",0.23,0.38,0.38,0.38,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"B4GALT3",1,99,"非编码区",14200,"0.2727=3/11","位于基因组单拷贝区域+DNA结构正常",8703,"1q21-q23","NM_001199873"]
["32630A(747)v3272",42,19,0.4524,"32630A","BAGE2","chr21:11098920","c.-203T>C(exon1)","非编码区","rs78230864",{"$nulls":4},0.48,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,26,0,"BAGE2",0.96,540,"非编码区",14300,"0.4130=19/46","位于基因组多拷贝区域+DNA结构正常",85319,"21p","NM_182482"]
["32630A(747)v3289",29,19,0.6552,"32630A","BAI2","chr1:32221913","c.525C>T(exon4)","p.P175P","rs4949223",0.14,0.11,0.14,0.073,0.12,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"BAI2",1,55,"同义",13203,"0.6364=21/33","位于基因组单拷贝区域+DNA结构正常",576,"1p35","NM_001703"]
["32630A(747)v3333",170,87,0.5118,"32630A","BARX2","chr11:129321066","c.609C>T(exon4)","p.P203P","rs10791011",0.3,0.4,0.39,0.42,0.43,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"BARX2",1,97,"同义",13203,"0.5176=103/199","位于基因组单拷贝区域+DNA结构正常",8538,"11q25","NM_003658"]
["32630A(747)v3400",19,11,0.5789,"32630A","BCL10","chr1:85742157","c.-122C>G(exon1)","非编码区","rs1060843",0.13,0.19,0.18,0.2,0.2,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"滤泡性淋巴瘤（易感）",null,613024,5,2,1,5,"BCL10",1,180,"非编码区",14200,"0.6000=12/20","位于基因组单拷贝区域+DNA结构正常",8915,"1p22","NM_003921"]
["32630A(747)v3422",28,17,0.6071,"32630A","BCL9","chr1:147096794","c.*34A>G(exon10)","非编码区","rs867270",0.84,0.68,0.7,0.66,0.63,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"BCL9",1,93,"非编码区",14200,"0.6207=18/29","位于基因组单拷贝区域+DNA结构正常",607,"1q21","NM_004326"]
["32630A(747)v3459",113,62,0.5487,"32630A","BCR","chr22:23632513","c.2708-13A>G(exon14)","非编码区","rs16802",0.31,0.072,0.071,0.073,0.068,0.06,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"慢性髓细胞性白血病",null,608232,5,2,20,2,"BCR",1,71,"非编码区",16202,"0.5426=70/129","位于基因组单拷贝区域+DNA结构正常",613,"22q11.23","NM_004327"]
["32630A(747)v3488",42,22,0.5238,"32630A","BEAN1","chr16:66511627","c.440+14A>G(exon4)","非编码区","rs11075636",0.38,0.35,0.34,0.36,0.36,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脊髓小脑性共济失调31型","AD",117210,5,1,2,1,"BEAN1",0.72,20,"非编码区",16203,"0.5417=26/48","位于基因组单拷贝区域+DNA结构正常",146227,"16q21","NM_001178020"]
["32630A(747)v3503",108,108,1,"32630A","BEST1","chr11:61730234","c.1428T>C(exon9)","p.T476T","rs1800009",0.59,0.85,0.85,0.85,0.85,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斑萎蛋白病变",null,611809,5,1,3,4,"BEST1",1,95,"同义",13203,"1.0000=120/120","位于基因组单拷贝区域+DNA结构正常",7439,"11q13","NM_001139443",null,"rs1800009|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v3563",109,109,1,"32630A","BLK","chr8:11406593","c.330T>C(exon5)","p.S110S","rs3816668",0.42,0.079,0.081,0.078,0.073,0.087,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年轻起病成人型糖尿病11型","AD",613375,5,1,2,1,"BLK",1,100,"同义",13203,"1.0000=123/123","位于基因组单拷贝区域+DNA结构正常",640,"8p23-p22","NM_001715",null,"rs3816668|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v3567",129,69,0.5349,"32630A","BLM","chr15:91346923","c.3531C>A(exon18)","p.A1177A","rs2227934",0.13,0.18,0.18,0.17,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"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",1,170,"同义",13203,"0.5625=81/144","位于基因组单拷贝区域+DNA结构正常",641,"15q26.1","NM_000057",null,"rs2227934|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v3631",117,47,0.4017,"32630A","BPI","chr20:36952361-36952361","c.858(exon8)delC","p.Y286Yfs*22","rs768965520",{"$nulls":5},0.00081,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,5,0,"BPI",1,100,"移码",2130,"0.3769=49/130","位于基因组单拷贝区域+DNA结构正常",671,"20q11.23","NM_001725"]
["32630A(747)v3646",209,208,0.9952,"32630A","BRCA2","chr13:32915005","c.6513G>C(exon11)","p.V2171V","rs206076",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变","CLINVAR数据库","髓母细胞瘤","AD",155255,4,1,5,8,"BRCA2",1,170,"同义",13303,"0.9958=235/236","位于基因组单拷贝区域+DNA结构正常",675,"13q12.3","NM_000059",null,"rs206076|Benign|OMIM:114480|NA|reviewed by expert panel|NA"]
["32630A(747)v3670",46,21,0.4565,"32630A","BRICD5","chr16:2260612","c.91A>G(exon2)","p.S31G","rs26856",0.63,0.57,0.6,0.54,0.6,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"BRICD5",1,49,"非同义",12220,"0.4314=22/51","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_182563"]
["32630A(747)v3719",74,33,0.4459,"32630A","BTBD3","chr20:11903654","c.909G>A(exon4)","p.A303A","rs35364034",0.095,0.23,0.26,0.21,0.27,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18648523,{"$nulls":3},5,null,1,0,"BTBD3",1,130,"同义",13203,"0.4250=34/80","位于基因组单拷贝区域+DNA结构正常",22903,"20p12.2","NM_014962"]
["32630A(747)v3739",6,4,0.6667,"32630A","BTN2A2","chr6:26393487","c.*292C>T(exon8)","非编码区","rs3927423",0.048,0.072,0.071,0.073,0.069,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"BTN2A2",0.98,180,"非编码区",14100,"0.7143=5/7","位于基因组多拷贝区域+DNA结构正常",10385,"6p22.1","NM_001197237"]
["32630A(747)v3771",90,46,0.5111,"32630A","C10orf120","chr10:124459139","c.168A>G(exon1)","p.S56S","rs11813597",0.45,0.52,0.55,0.48,0.49,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"C10orf120",1,120,"同义",13203,"0.5094=54/106","位于基因组单拷贝区域+DNA结构正常",399814,"10q26.13","NM_001010912"]
["32630A(747)v3806",113,113,1,"32630A","C10orf90","chr10:128192985","c.784G>A(exon3)","p.D262N","rs11245007",0.5,0.48,0.5,0.47,0.47,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","26223354;16385451",{"$nulls":3},5,null,4,0,"C10orf90",1,110,"非同义",12220,"1.0000=125/125","位于基因组单拷贝区域+DNA结构正常",118611,"10q26.2","NM_001004298","ASP262ASN|\"Breast_cancer_protection_against_association_with\"|26223354"]
["32630A(747)v3863",27,27,1,"32630A","C12orf10","chr12:53693533","c.12A>C(exon1)","p.Q4H","rs1534283",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","20377893;23706493",{"$nulls":3},5,null,4,0,"C12orf10",1,94,"非同义",12220,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",60314,"12q13","NM_021640"]
["32630A(747)v3899",107,56,0.5234,"32630A","C12orf70","chr12:27625823","c.234+15A>T(exon3)","非编码区","rs386428",0.74,0.76,0.74,0.78,0.77,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"C12orf70",1,170,"非编码区",16203,"0.5043=59/117","位于基因组单拷贝区域+DNA结构正常",341346,"12p11.23","NM_001145010"]
["32630A(747)v3937",125,125,1,"32630A","C14orf39","chr14:60923783","c.1210G>A(exon15)","p.V404I","rs11625921",null,0.9,0.91,0.89,0.89,0.87,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"C14orf39",1,260,"非同义",12330,"1.0000=144/144","位于基因组单拷贝区域+DNA结构正常",317761,"14q23.1","NM_174978"]
["32630A(747)v3996",124,124,1,"32630A","C16orf96","chr16:4625938","c.1457A>T(exon5)","p.D486V","rs2450386",0.16,0.11,0.095,0.13,0.12,0.12,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"C16orf96",1,89,"非同义",12220,"1.0000=147/147","位于基因组单拷贝区域+DNA结构正常",342346,"16p13.3","NM_001145011"]
["32630A(747)v4011",39,39,1,"32630A","C17orf50","chr17:34091078","c.66C>G(exon2)","p.D22E","rs4795087",0.34,0.34,0.34,0.33,0.36,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"C17orf50",1,26,"非同义",12220,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",146853,"17q12","NM_145272"]
["32630A(747)v4053",26,12,0.4615,"32630A","C17orf99","chr17:76162178","c.*51G>A(exon5)","非编码区","rs3642",0.14,0.029,0.029,0.029,0.054,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C17orf99",1,72,"非编码区",14200,"0.4074=11/27","位于基因组单拷贝区域+DNA结构正常",100141515,"17q25.3","NM_001163075"]
["32630A(747)v4124",8,8,1,"32630A","C1QTNF1","chr17:77044218-77044219","c.*48(exon4)_c.*49(exon4)insGCTGACCCCAGGGCTCAGCACCAG","非编码区","rs3833103",0.34,0.55,0.57,0.53,null,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"C1QTNF1",1,66,"非编码区",2420,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",114897,"17q25.3","NM_030968"]
["32630A(747)v4151",14,14,1,"32630A","C1orf106","chr1:200880978","c.1357C>T(exon9)","p.R453C","rs296520",0.79,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C1orf106",1,52,"非同义",12220,"1.0000=14/14","位于基因组多拷贝区域+DNA结构正常",55765,"1q32.1","NM_001142569"]
["32630A(747)v4199",44,44,1,"32630A","C1orf204","chr1:159825061","c.-34C>G(exon1)","非编码区","rs2501339",0.63,0.66,0.61,0.72,0.68,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"C1orf204",1,83,"非编码区",14200,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",284677,"1q23.2","NM_001134233"]
["32630A(747)v4256",22,22,1,"32630A","C20orf96","chr20:259969","c.306C>G(exon5)","p.T102T","rs7271033",0.67,0.82,0.82,0.83,0.7,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C20orf96",1,78,"同义",13202,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",140680,"20p13","NM_080571"]
["32630A(747)v4280",84,46,0.5476,"32630A","C22orf46","chr22:42089623","c.373T>C(exon2)","p.W125R","rs739134",0.8,0.89,0.88,0.91,0.9,0.92,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C22orf46",1,65,"非同义",12210,"0.5670=55/97","位于基因组单拷贝区域+DNA结构正常",79640,"22q13.2","NM_001142964"]
["32630A(747)v4331",70,34,0.4857,"32630A","C3orf20","chr3:14768534","c.1690+3A>G(exon11)","非编码区","rs7636830",0.41,0.41,0.4,0.42,0.34,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"C3orf20",1,99,"非编码区",16202,"0.5000=38/76","位于基因组单拷贝区域+DNA结构正常",84077,"3p25.1","NM_032137"]
["32630A(747)v4364",58,58,1,"32630A","C3","chr19:6702157","c.2421G>C(exon19)","p.V807V","rs428453",0.73,0.86,0.84,0.88,0.81,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",25388911,"补体成分3缺乏症","AR",613779,5,1,10,3,"C3",1,81,"同义",13203,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",718,"19p13.3-p13.2","NM_000064"]
["32630A(747)v4386",18,18,1,"32630A","C4orf32","chr4:113066831","c.95G>A(exon1)","p.G32E","rs10002700",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"C4orf32",1,140,"非同义",12230,"1.0000=20/20","位于基因组单拷贝区域+DNA结构正常",132720,"4q25","NM_152400"]
["32630A(747)v4419",279,126,0.4516,"32630A","C5orf42","chr5:37148385","c.8212-15G>A(exon42)","非编码区","rs74881219",0.01,0.041,0.043,0.039,0.032,0.041,"杂合","未知","剪切位点预测结果为无害",null,"口-面-指综合征6型","AR",277170,4,3,3,2,"C5orf42",1,160,"非编码区",16102,"0.4498=148/329","位于基因组单拷贝区域+DNA结构正常",65250,"5p13.2","NM_023073"]
["32630A(747)v4452",24,15,0.625,"32630A","C6orf165","chr6:88174102","c.*134C>G(exon13)","非编码区","rs7707",0.3,0.31,0.3,0.31,0.29,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"C6orf165",1,220,"非编码区",14200,"0.6538=17/26","位于基因组单拷贝区域+DNA结构正常",154313,"6q15","NM_001031743"]
["32630A(747)v4508",139,66,0.4748,"32630A","C7orf72","chr7:50180972","c.1073C>T(exon7)","p.T358I","rs1456908",0.33,0.16,0.14,0.17,0.17,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"C7orf72",1,190,"非同义",12210,"0.4817=79/164","位于基因组单拷贝区域+DNA结构正常",100130988,"7p12.2","NM_001161834"]
["32630A(747)v4527",34,34,1,"32630A","C8orf31","chr8:144126244","c.355+10T>C(exon4)","非编码区","rs4612316",0.69,0.79,0.79,0.79,0.77,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C8orf31",1,71,"非编码区",16203,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",286122,"8q24.3","NM_173687"]
["32630A(747)v4584",22,22,1,"32630A","C9orf170","chr9:89763574","c.-72A>C(exon1)","非编码区","rs461126",null,0.97,0.97,0.98,0.95,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"C9orf170",1,150,"非编码区",14300,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",401535,"9q21.33","NM_001001709"]
["32630A(747)v4634",196,88,0.449,"32630A","CA10","chr17:49713300","c.705C>T(exon8)","p.Y235Y","rs11870209",0.36,0.33,0.31,0.35,0.34,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CA10",1,180,"同义",13203,"0.4533=102/225","位于基因组单拷贝区域+DNA结构正常",56934,"17q21.33","NM_001082533"]
["32630A(747)v4656",84,84,1,"32630A","CABIN1","chr22:24459438","c.1713T>C(exon14)","p.C571C","rs762273",0.93,0.89,0.89,0.89,0.89,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CABIN1",1,76,"同义",13203,"1.0000=104/104","位于基因组单拷贝区域+DNA结构正常",23523,"22q11.23","NM_001199281"]
["32630A(747)v4679",126,55,0.4365,"32630A","CACNA1B","chr9:140777306","c.501C>G(exon3)","p.N167K","rs4422842",{"$nulls":4},0.5,0.5,"杂合","可能相关","Provean软件蛋白结构预测可能有害",20352079,{"$nulls":3},2,null,10,0,"CACNA1B",0.99,72,"非同义",12310,"0.4658=68/146","位于基因组单拷贝区域+DNA结构正常",774,"9q34","NM_000718"]
["32630A(747)v4705",49,49,1,"32630A","CACNA1G","chr17:48653354","c.1591C>A(exon8)","p.R531R","rs12449998",0.52,0.92,0.91,0.93,0.9,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CACNA1G",1,66,"同义",13203,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",8913,"17q22","NM_018896"]
["32630A(747)v4753",83,44,0.5301,"32630A","CADPS2","chr7:122078414","c.2457A>C(exon17)","p.T819T","rs2074589",0.28,0.45,0.46,0.44,0.38,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CADPS2",1,200,"同义",13203,"0.5484=51/93","位于基因组单拷贝区域+DNA结构正常",93664,"7q31.3","NM_001167940"]
["32630A(747)v4807",57,26,0.4561,"32630A","CAMKK2","chr12:121691096","c.1087C>T(exon10)","p.R363C","rs1132780",0.24,0.28,0.26,0.31,0.26,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CAMKK2",1,75,"非同义",12210,"0.4590=28/61","位于基因组单拷贝区域+DNA结构正常",10645,"12q24.2","NM_006549"]
["32630A(747)v4850",151,151,1,"32630A","CAPN13","chr2:30980940","c.838G>A(exon8)","p.A280T","rs508405",0.79,0.72,0.74,0.69,0.77,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16574953,{"$nulls":3},5,null,5,0,"CAPN13",1,130,"非同义",12220,"1.0000=165/165","位于基因组单拷贝区域+DNA结构正常",92291,"2p22-p21","NM_144575","rs508405|\"Leukaemia_risk_association_with\"|16574953"]
["32630A(747)v4882",42,15,0.3571,"32630A","CARD10","chr22:37900771","c.1389T>C(exon8)","p.C463C","rs3817806",0.11,0.12,0.14,0.1,0.12,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CARD10",1,46,"同义",13203,"0.3721=16/43","位于基因组单拷贝区域+DNA结构正常",29775,"22q13.1","NM_014550"]
["32630A(747)v4890",32,18,0.5625,"32630A","CARD11","chr7:2962293","c.2244G>C(exon17)","p.T748T","rs3735131",0.15,0.15,0.14,0.16,0.18,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"免疫缺陷11型","AR",615206,5,3,10,2,"CARD11",1,64,"同义",13203,"0.5143=18/35","位于基因组单拷贝区域+DNA结构正常",84433,"7p22","NM_032415"]
["32630A(747)v4921",14,14,1,"32630A","CASC1","chr12:25261735","c.1898C>A(exon15)","p.A633E","rs859146",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CASC1",1,170,"非同义",12230,"1.0000=20/20","位于基因组单拷贝区域+DNA结构正常",55259,"12p12.1","NM_001082973"]
["32630A(747)v4963",33,12,0.3636,"32630A","CASS4","chr20:55033420","c.1978C>T(exon7)","p.P660S","rs35031530",0.15,0.23,0.26,0.21,0.25,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CASS4",1,69,"非同义",12210,"0.4054=15/37","位于基因组单拷贝区域+DNA结构正常",57091,"20q13.31","NM_001164116"]
["32630A(747)v4985",94,49,0.5213,"32630A","CATSPERG","chr19:38847431","c.1245T>C(exon11)","p.T415T","rs2286475",0.33,0.5,0.47,0.54,0.48,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"CATSPERG",1,82,"同义",13203,"0.5152=51/99","位于基因组单拷贝区域+DNA结构正常",57828,"19q13.1","NM_021185"]
["32630A(747)v5036",4,2,0.5,"32630A","CBX3","chr7:26252166","c.*338G>A(exon6)","非编码区","rs9768454",{"$nulls":4},0.38,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"CBX3",1,400,"非编码区",14300,"0.4000=2/5","位于基因组多拷贝区域+DNA结构正常",11335,"7p15.2","NM_007276"]
["32630A(747)v5077",33,10,0.303,"32630A","CCDC110","chr4:186379899","c.1842C>G(exon6)","p.I614M","rs35596415",0.38,0.25,0.24,0.26,0.3,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"CCDC110",1,260,"非同义",12220,"0.3421=13/38","位于基因组单拷贝区域+DNA结构正常",256309,"4q35.1","NM_152775"]
["32630A(747)v5103",28,28,1,"32630A","CCDC129","chr7:31618008","c.1160A>G(exon9)","p.H387R","rs10252720",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"CCDC129",1,110,"非同义",12220,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",223075,"7p14.3","NM_001257967"]
["32630A(747)v5134",3,2,0.6667,"32630A","CCDC144NL","chr17:20768304","c.*424G>A(exon4)","非编码区","rs74333266",{"$nulls":4},0.47,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,35,0,"CCDC144NL",1,190,"非编码区",14300,"0.5000=2/4","位于基因组多拷贝区域+DNA结构正常",339184,"17p11.2","NM_001004306"]
["32630A(747)v5174",11,11,1,"32630A","CCDC149","chr4:24809884","c.*127A>G(exon13)","非编码区","rs1019229",0.91,0.88,0.89,0.86,0.91,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CCDC149",1,95,"非编码区",14200,"1.0000=12/12","位于基因组单拷贝区域+DNA结构正常",91050,"4p15.2","NM_173463"]
["32630A(747)v5235",95,95,1,"32630A","CCDC169","chr13:36801415","c.343G>A(exon7)","p.G115R","rs9546785",0.38,0.42,0.48,0.37,0.39,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"CCDC169",1,110,"非同义",12220,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",728591,"13q13.3","NM_001144982"]
["32630A(747)v5263",66,66,1,"32630A","CCDC178","chr18:30804756","c.1801G>A(exon16)","p.D601N","rs466113",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CCDC178",1,170,"非同义",12220,"1.0000=75/75","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_001105528"]
["32630A(747)v5310",182,89,0.489,"32630A","CCDC50","chr3:191093175","c.773T>A(exon6)","p.I258N","rs2028574",0.5,0.46,0.52,0.4,0.45,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;17503326","常染色体显性遗传耳聋44型",null,607453,5,2,10,1,"CCDC50",1,220,"非同义",12220,"0.4680=95/203","位于基因组单拷贝区域+DNA结构正常",152137,"3q28","NM_178335",null,"ILE258ASN|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v5361",138,61,0.442,"32630A","CCDC77","chr12:547683","c.1004T>C(exon10)","p.M335T","rs735295",0.32,0.41,0.41,0.41,0.38,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CCDC77",1,160,"非同义",12220,"0.4395=69/157","位于基因组单拷贝区域+DNA结构正常",84318,"12p13.33","NM_032358"]
["32630A(747)v5381",71,39,0.5493,"32630A","CCDC87","chr11:66358126","c.2361G>A(exon1)","p.L787L","rs486584",0.43,0.41,0.39,0.43,0.42,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CCDC87",1,53,"同义",13203,"0.5476=46/84","位于基因组单拷贝区域+DNA结构正常",55231,"11q13.2","NM_018219"]
["32630A(747)v5414",158,76,0.481,"32630A","CCHCR1","chr6:31113214","c.1739+11G>T(exon12)","非编码区","rs1265074",0.25,0.3,0.33,0.28,0.29,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20018019;20186319",{"$nulls":3},5,null,6,0,"CCHCR1",0.56,18,"非编码区",16203,"0.5080=95/187","位于基因组单拷贝区域+DNA结构正常",54535,"6p21.3","NM_001105564"]
["32630A(747)v5485",86,40,0.4651,"32630A","CCRL2","chr3:46450070","c.500T>A(exon2)","p.F167Y","rs3204849",0.35,0.56,0.59,0.54,0.53,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","22046140;17079285",{"$nulls":3},5,null,2,0,"CCRL2",1,82,"非同义",12220,"0.4526=43/95","位于基因组单拷贝区域+DNA结构正常",9034,"3p21","NM_003965","PHE167TYR|\"AIDS_&_pneumocystis_pneumonia_association_with\"|22046140;rs3204849|\"AIDS_&_pneumocystis_pneumonia_association_with\"|22046140"]
["32630A(747)v5507",21,10,0.4762,"32630A","CCT8","chr21:30445961","c.-50C>T(exon1)","非编码区","rs2012645",0.3,0.17,0.14,0.2,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CCT8",1,180,"非编码区",14200,"0.5000=12/24","位于基因组单拷贝区域+DNA结构正常",10694,"21q22.11","NM_006585"]
["32630A(747)v5556",208,100,0.4808,"32630A","CD200R1","chr3:112648125","c.432C>A(exon4)","p.T144T","rs6438117",0.65,0.68,0.71,0.65,0.65,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"CD200R1",1,190,"同义",13203,"0.5083=122/240","位于基因组多拷贝区域+DNA结构正常",131450,"3q13.2","NM_138806"]
["32630A(747)v5567",208,102,0.4904,"32630A","CD209","chr19:7805774","c.*2151G>A(exon7)","非编码区","rs143217457",0.0016,0,0,0,0.00052,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"登革病毒易感",null,614371,3,2,10,3,"CD209",1,150,"非编码区",14100,"0.4980=124/249","位于基因组单拷贝区域+DNA结构正常",30835,"19p13","NM_021155"]
["32630A(747)v5608",79,37,0.4684,"32630A","CD33","chr19:51728641","c.205A>G(exon2)","p.R69G","rs2455069",0.34,0.11,0.12,0.1,0.1,0.08,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23444229,{"$nulls":3},5,null,1,0,"CD33",1,95,"非同义",12220,"0.4819=40/83","位于基因组多拷贝区域+DNA结构正常",945,"19q13.3","NM_001772"]
["32630A(747)v5664",74,39,0.527,"32630A","CD8B","chr2:87069379","c.*51C>T(exon6)","非编码区","rs57583632",0.69,0.81,0.84,0.79,0.49,0.8,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CD8B",1,130,"非编码区",14200,"0.4815=39/81","位于基因组多拷贝区域+DNA结构正常",926,"2p12","NM_004931"]
["32630A(747)v5706",323,185,0.5728,"32630A","CDC27","chr17:45214654","c.1795G>A(exon14)","p.A599T","rs775321736",{"$nulls":4},0.54,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,55,0,"CDC27",1,350,"非同义",12310,"0.5707=218/382","位于基因组多拷贝区域+DNA结构正常",996,"17q21.32","NM_001114091"]
["32630A(747)v5739",532,431,0.8102,"32630A","CDC27","chr17:45234404","c.717A>C(exon7)","p.V239V","rs74925848",{"$nulls":4},0.84,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,55,0,"CDC27",1,350,"同义",13303,"0.8333=600/720","位于基因组多拷贝区域+DNA结构正常",996,"17q21.32","NM_001114091"]
["32630A(747)v5763",2,2,1,"32630A","CDC42SE1","chr1:151024688","c.*1132A>C(exon6)","非编码区","rs10888402",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CDC42SE1",1,100,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",56882,"1q21.3","NM_001038707"]
["32630A(747)v5812",44,20,0.4545,"32630A","CDH16","chr16:66947024","c.1054+10A>G(exon9)","非编码区","rs60557147",0.075,0.2,0.19,0.21,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CDH16",1,83,"非编码区",16203,"0.4681=22/47","位于基因组单拷贝区域+DNA结构正常",1014,"16q22.1","NM_004062"]
["32630A(747)v5841",101,51,0.505,"32630A","CDH23","chr10:73558852","c.7055-16A>G(exon51)","非编码区","rs4747193",0.41,0.59,0.58,0.61,null,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体隐性遗传耳聋12型","AR",601386,5,3,22,2,"CDH23",1,78,"非编码区",16202,"0.4655=54/116","位于基因组单拷贝区域+DNA结构正常",64072,"10q22.1","NM_022124",null,"rs4747193|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v5856",110,110,1,"32630A","CDH3","chr16:68713730","c.720G>A(exon7)","p.T240T","rs2296409",0.61,0.59,0.59,0.59,0.61,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性稀毛症伴青少年黄斑营养不良","AR",601553,5,1,7,2,"CDH3",1,87,"同义",13203,"1.0000=125/125","位于基因组单拷贝区域+DNA结构正常",1001,"16q22.1","NM_001793"]
["32630A(747)v5911",143,77,0.5385,"32630A","CDK11A","chr1:1650787","c.335A>G(exon4)","p.H112R","rs1137003",{"$nulls":4},0.5,0.5,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,17,0,"CDK11A",1,130,"非同义",12320,"0.5437=87/160","位于基因组单拷贝区域+DNA结构正常",728642,"1p36.33","NM_024011"]
["32630A(747)v5955",24,24,1,"32630A","CDKN2AIP","chr4:184366145","c.195C>T(exon1)","p.S65S","rs11539203",0.12,0.35,0.4,0.3,0.33,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CDKN2AIP",1,100,"同义",13203,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",55602,"4q35.1","NM_017632"]
["32630A(747)v5980",5,4,0.8,"32630A","CDS1","chr4:85571339","c.*1500A>G(exon13)","非编码区","rs1372971",0.66,0.64,0.69,0.59,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CDS1",1,210,"非编码区",14200,"0.8333=5/6","位于基因组单拷贝区域+DNA结构正常",1040,"4q21.23","NM_001263"]
["32630A(747)v5995",20,20,1,"32630A","CDSN","chr6:31088241","c.-45G>A(exon1)","非编码区","rs386564366",0.79,0.81,0.83,0.78,0.8,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脱皮综合征","AR",270300,5,1,15,2,"CDSN",1,56,"非编码区",14200,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",1041,"6p21.3","NM_001264"]
["32630A(747)v6038",62,31,0.5,"32630A","CECR1","chr22:17662793","c.1359T>C(exon8)","p.Y453Y","rs7289170",0.19,0.043,0.043,0.044,0.055,0.049,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Sneddon综合征","AR",182410,5,3,6,2,"CECR1",1,78,"同义",13203,"0.5541=41/74","位于基因组单拷贝区域+DNA结构正常",51816,"22q11.2","NM_017424"]
["32630A(747)v6087",50,49,0.98,"32630A","CELSR2","chr1:109795026","c.2325T>C(exon1)","p.Y775Y","rs413380",0.9,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"CELSR2",1,59,"同义",13203,"0.9815=53/54","位于基因组单拷贝区域+DNA结构正常",1952,"1p21","NM_001408"]
["32630A(747)v6109",211,108,0.5118,"32630A","CENPE","chr4:104082349","c.2025G>A(exon20)","p.Q675Q","rs2251634",0.45,0.26,0.27,0.26,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"原发性常染色体隐性遗传性小头畸形13型","AR",616051,5,3,7,1,"CENPE",1,170,"同义",13203,"0.5223=129/247","位于基因组单拷贝区域+DNA结构正常",1062,"4q24-q25","NM_001813"]
["32630A(747)v6143",134,63,0.4701,"32630A","CEP104","chr1:3761479","c.558G>A(exon6)","p.T186T","rs2275822",0.35,0.34,0.32,0.36,0.33,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"CEP104",1,120,"同义",13203,"0.4902=75/153","位于基因组单拷贝区域+DNA结构正常",9731,"1p36.32","NM_014704"]
["32630A(747)v6205",2,2,1,"32630A","CEP85L","chr6:118784430","c.*2138A>T(exon13)","非编码区","rs55868726",0.6,0.33,0.3,0.35,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CEP85L",1,160,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",387119,"6q22","NM_001042475"]
["32630A(747)v6220",42,42,1,"32630A","CERCAM","chr9:131196695","c.1338C>T(exon11)","p.L446L","rs7258",0.29,0.4,0.44,0.37,0.42,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CERCAM",1,57,"同义",13203,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",51148,"9q34.11","NM_016174"]
["32630A(747)v6252",20,11,0.55,"32630A","CES2","chr16:66977997","c.*69A>G(exon12)","非编码区","rs8192925",0.093,0.26,0.23,0.3,0.24,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CES2",1,93,"非编码区",14200,"0.5217=12/23","位于基因组单拷贝区域+DNA结构正常",8824,"16q22.1","NM_003869"]
["32630A(747)v6278",239,239,1,"32630A","CFH","chr1:196659237","c.1204C>T(exon9)","p.H402Y","rs1061170",0.73,0.94,0.96,0.93,0.94,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21979047;15761120;15761122;16080115;16519819","基底膜板层状玻璃膜疣","AD",126700,5,1,5,4,"CFH",1,290,"非同义",11200,"1.0000=263/263","位于基因组多拷贝区域+DNA结构正常",3075,"1q32","NM_000186","rs1061170|\"Macular_degeneration_age-related_association_with\"|15761120","rs1061170|Pathogenic;risk factor|OMIM:126700|OMIM:134370.0008|no assertion criteria provided|PubMed:21979047"]
["32630A(747)v6321",35,35,1,"32630A","CH25H","chr10:90966996","c.54G>C(exon1)","p.L18L","rs10887932",0.28,0.78,0.77,0.79,0.75,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CH25H",1,78,"同义",13203,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",9023,"10q23","NM_003956"]
["32630A(747)v6379",17,9,0.5294,"32630A","CHERP","chr19:16653249","c.-60C>T(exon1)","非编码区","rs45528635",0.09,0.075,0.071,0.078,0.058,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CHERP",1,59,"非编码区",14200,"0.5000=10/20","位于基因组单拷贝区域+DNA结构正常",10523,"19p13.1","NM_006387"]
["32630A(747)v6414",103,60,0.5825,"32630A","CHKA","chr11:67837771","c.765-11T>A(exon6)","非编码区","rs3819255",0.32,0.43,0.47,0.39,0.35,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CHKA",0.99,120,"非编码区",16201,"0.6000=66/110","位于基因组单拷贝区域+DNA结构正常",1119,"11q13.2","NM_001277"]
["32630A(747)v6444",15,15,1,"32630A","CHPF","chr2:220404381","c.2052T>C(exon4)","p.Y684Y","rs1976616",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CHPF",1,31,"同义",13203,"1.0000=15/15","位于基因组单拷贝区域+DNA结构正常",79586,"2q35","NM_024536"]
["32630A(747)v6470",5,5,1,"32630A","CHRNA3","chr15:78913354-78913361","c.-225(exon1)_c.-218(exon1)delCCGCCCGC","非编码区","rs71448806",0.41,0.37,0.42,0.33,0,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"吸烟数量性状位点3",null,612052,5,1,7,1,"CHRNA3",0.95,120,"非编码区",2420,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",1136,"15q24","NM_000743"]
["32630A(747)v6501",23,11,0.4783,"32630A","CHRNE","chr17:4802329","c.1293C>T(exon11)","p.A431A","rs33978919",0.19,0.053,0.038,0.068,0.053,0.074,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"先天性肌无力综合征3A慢通道型","AD,AR",601462,5,1,4,3,"CHRNE",1,31,"同义",13203,"0.4615=12/26","位于基因组单拷贝区域+DNA结构正常",1145,"17p13.2","NM_000080",null,"rs33978919|Benign|NA|NA|criteria provided, single submitter|PubMed:18414213"]
["32630A(747)v6554",68,68,1,"32630A","CIITA","chr16:10995933","c.520A>G(exon7)","p.R174G","rs8046121",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"风湿性关节炎（易感）",null,180300,5,1,5,2,"CIITA",1,65,"非同义",12230,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",4261,"16p13","NM_000246"]
["32630A(747)v6567",99,47,0.4747,"32630A","CISH","chr3:50645793","c.292+11G>C(exon3)","非编码区","rs622502",null,0.94,0.95,0.92,0.93,0.93,"杂合","未知","内含子突变可能影响调控","23949851;24632804;24964072","细菌血症易感2",null,614383,4,2,1,3,"CISH",1,79,"非编码区",16303,"0.4495=49/109","位于基因组单拷贝区域+DNA结构正常",1154,"3p21.3","NM_013324"]
["32630A(747)v6614",40,20,0.5,"32630A","CLCNKA","chr1:16360316","c.*163A>T(exon20)","非编码区","rs57537563",0.59,0.74,0.77,0.71,0.7,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"巴特综合征IV型B","AR",613090,5,3,7,1,"CLCNKA",1,120,"非编码区",14200,"0.4583=22/48","位于基因组多拷贝区域+DNA结构正常",1187,"1p36","NM_004070"]
["32630A(747)v6643",12,8,0.6667,"32630A","CLDN23","chr8:8559831","c.-78G>C(exon1)","非编码区","rs75780384",0.03,0.072,0.067,0.078,0.071,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"CLDN23",1,26,"非编码区",14100,"0.5333=8/15","位于基因组单拷贝区域+DNA结构正常",137075,"8p23.1","NM_194284"]
["32630A(747)v6672",63,28,0.4444,"32630A","CLEC18B","chr16:74443733","c.1238+17A>C(exon11)","非编码区","rs2549216",0.74,0.75,0.73,0.77,0.77,0.023,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CLEC18B",1,350,"非编码区",16203,"0.4265=29/68","位于基因组多拷贝区域+DNA结构正常",497190,"16q22.3","NM_001011880"]
["32630A(747)v6704",111,57,0.5135,"32630A","CLEC7A","chr12:10271055","c.*2A>G(exon6)","非编码区","rs7959451",0.64,0.3,0.29,0.31,0.34,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性念珠菌病4型","AR",613108,5,3,1,2,"CLEC7A",1,180,"非编码区",14200,"0.4924=65/132","位于基因组单拷贝区域+DNA结构正常",64581,"12p13.2","NM_197947"]
["32630A(747)v6744",93,93,1,"32630A","CLNK","chr4:10502937","c.1083A>C(exon18)","p.I361I","rs2903960",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CLNK",1,170,"同义",13203,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",116449,"4p16.1","NM_052964"]
["32630A(747)v6796",86,47,0.5465,"32630A","CMTM2","chr16:66613525","c.15G>A(exon1)","p.A5A","rs11553598",0.14,0.19,0.2,0.18,0.17,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CMTM2",1,110,"同义",13203,"0.5376=50/93","位于基因组单拷贝区域+DNA结构正常",146225,"16q21","NM_144673"]
["32630A(747)v6857",114,114,1,"32630A","CNGB3","chr8:87679303","c.702T>G(exon6)","p.C234W","rs6471482",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",26106334,"斯特格病变1型","AR",248200,5,1,2,2,"CNGB3",1,190,"非同义",12220,"1.0000=125/125","位于基因组单拷贝区域+DNA结构正常",54714,"8q21.3","NM_019098","rs6471482|\"Decreased_ligand_sensitivity\"|26106334"]
["32630A(747)v6871",32,15,0.4688,"32630A","CNNM3","chr2:97498481","c.*128T>A(exon8)","非编码区","rs9973492",0.21,0.079,0.081,0.078,0.05,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CNNM3",0.97,49,"非编码区",14200,"0.4545=15/33","位于基因组单拷贝区域+DNA结构正常",26505,"2p12-p11.2","NM_017623"]
["32630A(747)v6923",203,203,1,"32630A","CNTN6","chr3:1424718","c.2259G>A(exon18)","p.V753V","rs2291101",0.48,0.62,0.62,0.62,0.62,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CNTN6",1,240,"同义",13203,"1.0000=231/231","位于基因组单拷贝区域+DNA结构正常",27255,"3p26-p25","NM_014461"]
["32630A(747)v6939",38,37,0.9737,"32630A","CNTNAP3B","chr9:43849817","c.1722A>G(exon11)","p.L574L","rs4063192",{"$nulls":5},0.62,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,11,0,"CNTNAP3B",null,null,"同义",13303,"0.9756=40/41","位于基因组多拷贝区域+DNA结构正常",728577,"9p11.2","NM_001201380"]
["32630A(747)v7012",36,36,1,"32630A","COL10A1","chr6:116441229-116441230","c.*6(exon3)_c.*7(exon3)insCCC","非编码区","rs111661664",0.96,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Schmid型干骺端软骨发育异常","AD",156500,5,1,2,1,"COL10A1",1,130,"非编码区",2420,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",1300,"6q21-q22","NM_000493"]
["32630A(747)v7022",47,26,0.5532,"32630A","COL11A2","chr6:33139328","c.3174G>A(exon43)","p.P1058P","rs1799910",0.51,0.34,0.36,0.32,0.31,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"耳脊椎骨骺发育不良","AR",215150,5,3,9,6,"COL11A2",0.87,34,"同义",13203,"0.5400=27/50","位于基因组多拷贝区域+DNA结构正常",1302,"6p21.3","NM_080680",null,"rs1799910|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v7024",41,41,1,"32630A","COL11A2","chr6:33141161","c.2700T>C(exon37)","p.D900D","rs2229785",0.88,0.98,0.99,0.96,0.96,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体隐性遗传耳聋53型",null,609706,5,1,9,6,"COL11A2",0.87,34,"同义",13203,"1.0000=46/46","位于基因组单拷贝区域+DNA结构正常",1302,"6p21.3","NM_080680",null,"rs2229785|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v7059",204,204,1,"32630A","COL17A1","chr10:105810400","c.2107A>G(exon27)","p.M703V","rs805722",0.69,0.81,0.78,0.83,0.82,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24914781,"非赫利茨型交界型大疱性表皮松解症","AR",226650,5,1,11,1,"COL17A1",1,100,"非同义",12220,"1.0000=232/232","位于基因组单拷贝区域+DNA结构正常",1308,"10q24.3","NM_000494"]
["32630A(747)v7081",62,62,1,"32630A","COL1A1","chr17:48268223","c.2298T>C(exon33)","p.T766T","rs2734272",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"骨质疏松症","AD",166710,5,1,5,8,"COL1A1",1,86,"同义",13203,"1.0000=75/75","位于基因组单拷贝区域+DNA结构正常",1277,"17q21.33","NM_000088"]
["32630A(747)v7086",179,179,1,"32630A","COL1A2","chr7:94038934","c.936+14C>T(exon18)","非编码区","rs42518",0.83,0.93,0.92,0.93,0.93,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"骨质疏松症","AD",166710,5,1,7,6,"COL1A2",1,240,"非编码区",16203,"1.0000=205/205","位于基因组单拷贝区域+DNA结构正常",1278,"7q22.1","NM_000089"]
["32630A(747)v7121",68,33,0.4853,"32630A","COL27A1","chr9:117044538","c.3718-19G>T(exon38)","非编码区","rs2636879",0.3,0.34,0.34,0.33,0.37,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18978678,"Steel综合征","AR",615155,5,3,10,1,"COL27A1",1,98,"非编码区",16202,"0.4789=34/71","位于基因组单拷贝区域+DNA结构正常",85301,"9q32","NM_032888"]
["32630A(747)v7133",75,75,1,"32630A","COL2A1","chr12:48380682","c.1366-11C>T(exon22)","非编码区","rs10875714",0.2,0.26,0.25,0.26,0.29,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"多发性骨骺发育异常伴近视及传导性耳聋","AD",132450,5,1,8,14,"COL2A1",1,99,"非编码区",16202,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",1280,"12q13.11","NM_001844"]
["32630A(747)v7135",80,37,0.4625,"32630A","COL2A1","chr12:48391416","c.504C>A(exon7)","p.G168G","rs3737548",0.22,0.29,0.3,0.29,0.31,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18523590;19019890;19430638","脊椎外围发育不良","AD",271700,5,1,8,14,"COL2A1",1,99,"同义",13203,"0.4800=48/100","位于基因组单拷贝区域+DNA结构正常",1280,"12q13.11","NM_001844",null,"rs3737548|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v7137",74,74,1,"32630A","COL2A1","chr12:48398080","c.25A>T(exon1)","p.T9S","rs3803183",0.69,0.58,0.59,0.58,0.6,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;18523590;19387081;19430638","股骨头骨骺软骨病/Perthes病","AD",150600,5,1,8,14,"COL2A1",1,99,"非同义",12220,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",1280,"12q13.11","NM_001844",null,"THR9SER|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v7146",140,140,1,"32630A","COL4A1","chr13:110839550","c.1663A>C(exon25)","p.T555P","rs536174",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"遗传性血管病伴肾病、微动脉瘤和肌肉痉挛","AD",611773,3,1,15,4,"COL4A1",1,160,"非同义",12320,"1.0000=159/159","位于基因组单拷贝区域+DNA结构正常",1282,"13q34","NM_001845"]
["32630A(747)v7162",140,71,0.5071,"32630A","COL4A2","chr13:111145633","c.3634+4C>T(exon39)","非编码区","rs2274544",0.13,0.19,0.17,0.21,0.17,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性脑穿通2型","AD",614483,5,1,13,2,"COL4A2",1,140,"非编码区",16202,"0.5155=83/161","位于基因组单拷贝区域+DNA结构正常",1284,"13q34","NM_001846"]
["32630A(747)v7174",175,75,0.4286,"32630A","COL4A3","chr2:228124491","c.1030-18G>A(exon19)","非编码区","rs75171342",0.008,0.034,0.019,0.049,0.036,0.045,"杂合","未知","剪切位点预测结果为无害",null,"良性家族性血尿","AD",141200,4,1,8,3,"COL4A3",1,230,"非编码区",16102,"0.4118=84/204","位于基因组单拷贝区域+DNA结构正常",1285,"2q36-q37","NM_000091"]
["32630A(747)v7219",25,14,0.56,"32630A","COL6A1","chr21:47422644","c.2434+20G>A(exon33)","非编码区","rs2236486",0.39,0.67,0.65,0.68,0.65,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;12958705","Bethlem肌病","AD,AR",158810,5,1,11,2,"COL6A1",1,62,"非编码区",16203,"0.5556=15/27","位于基因组单拷贝区域+DNA结构正常",1291,"21q22.3","NM_001848",null,"rs2236486|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v7233",7,3,0.4286,"32630A","COL6A2","chr21:47552582","c.*116T>C(exon28)","非编码区","rs3087667",0.064,0.038,0.043,0.034,0.031,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Ullrich型先天性肌营养不良","AD,AR",254090,5,1,15,3,"COL6A2",1,53,"非编码区",14200,"0.4286=3/7","位于基因组单拷贝区域+DNA结构正常",1292,"21q22.3","NM_001849"]
["32630A(747)v7242",120,56,0.4667,"32630A","COL6A5","chr3:130098349","c.756G>A(exon4)","p.R252R","rs16845861",0.39,0.5,0.53,0.47,0.5,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"COL6A5",1,170,"同义",13203,"0.4519=61/135","位于基因组单拷贝区域+DNA结构正常",256076,"3q22.1","NM_153264"]
["32630A(747)v7262",12,10,0.8333,"32630A","COL8A2","chr1:36563777","c.1505C>T(exon2)","p.T502M","rs117860804",0.059,0.24,0.27,0.2,0.21,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Fuchs角膜内皮营养不良1型","AD",136800,5,1,3,2,"COL8A2",1,27,"非同义",12220,"0.8333=10/12","位于基因组单拷贝区域+DNA结构正常",1296,"1p34.2","NM_005202"]
["32630A(747)v7287",14,4,0.2857,"32630A","COMMD5","chr8:146076708","c.16G>A(exon2)","p.A6T","rs1209879",0.27,0.28,0.3,0.27,0.29,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16642433,{"$nulls":3},5,null,1,0,"COMMD5",1,31,"非同义",12220,"0.2857=4/14","位于基因组单拷贝区域+DNA结构正常",28991,"8q24.3","NM_014066"]
["32630A(747)v7333",73,73,1,"32630A","CORO7-PAM16","chr16:4445327","c.578G>A(exon7)","p.R193Q","rs3747579",0.51,0.81,0.78,0.85,0.78,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CORO7-PAM16",1,76,"非同义",12210,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",100529144,"16p","NM_001201479"]
["32630A(747)v7387",59,59,1,"32630A","CPB2","chr13:46627677","c.*72A>G(exon11)","非编码区","rs1049669",0.98,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17855631,{"$nulls":3},5,null,9,0,"CPB2",1,200,"非编码区",14200,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",1361,"13q14.11","NM_001872","rs1049669|\"Decreased_mRNA_stability\"|17855631"]
["32630A(747)v7422",37,37,1,"32630A","CPN2","chr3:194061906","c.1526A>G(exon2)","p.Q509R","rs4974538",0.81,0.8,0.79,0.81,0.85,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"CPN2",1,60,"非同义",12230,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",1370,"3q29","NM_001080513"]
["32630A(747)v7456",145,79,0.5448,"32630A","CPS1","chr2:211540507","c.4217C>A(exon36)","p.T1406N","rs1047891",0.29,0.14,0.14,0.14,0.16,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20456087;19525478;20031577;20031578;20154341","新生儿肺动脉高压（易感）",null,615371,5,2,6,2,"CPS1",1,210,"非同义",12220,"0.5687=91/160","位于基因组单拷贝区域+DNA结构正常",1373,"2q35","NM_001875","rs1047891|\"Hyperammonaemia_association_with\"|20456087;THR1406ASN|\"Hyperammonaemia_association_with\"|20456087","rs1047891|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA;THR1406ASN|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v7473",196,195,0.9949,"32630A","CPSF6","chr12:69646914","c.354G>A(exon3)","p.R118R","rs2305641",0.43,0.46,0.46,0.47,0.44,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CPSF6",1,180,"同义",13203,"0.9954=217/218","位于基因组单拷贝区域+DNA结构正常",11052,"12q15","NM_007007"]
["32630A(747)v7523",120,59,0.4917,"32630A","CR1","chr1:207812791","c.*37A>G(exon47)","非编码区","rs41274776",0.12,0.35,0.39,0.32,0.33,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血型，Knops系统",null,607486,5,2,7,2,"CR1",1,300,"非编码区",14200,"0.5172=75/145","位于基因组多拷贝区域+DNA结构正常",1378,"1q32","NM_000651"]
["32630A(747)v7573",81,81,1,"32630A","CRELD1","chr3:9976159","c.37A>G(exon1)","p.M13V","rs279552",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","房室间隔缺陷易感2型","AD",606217,5,1,1,1,"CRELD1",1,89,"非同义",12230,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",78987,"3p25.3","NM_015513",null,"VAL13MET|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v7587",150,75,0.5,"32630A","CRIM1","chr2:36704144","c.1104C>T(exon6)","p.T368T","rs848547",0.61,0.68,0.66,0.7,0.69,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CRIM1",1,120,"同义",13203,"0.4862=88/181","位于基因组单拷贝区域+DNA结构正常",51232,"2p21","NM_016441"]
["32630A(747)v7647",7,6,0.8571,"32630A","CRYAA","chr21:44592483","c.*93T>G(exon3)","非编码区","rs112855370",0.11,0.18,0.23,0.14,0.16,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色显性白内障","AD",604219,5,1,2,1,"CRYAA",1,61,"非编码区",14200,"0.8750=7/8","位于基因组单拷贝区域+DNA结构正常",1409,"21q22.3","NM_000394"]
["32630A(747)v7688",94,50,0.5319,"32630A","CSF2","chr5:131411460","c.350T>C(exon4)","p.I117T","rs25882",0.35,0.63,0.61,0.66,0.59,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17681858;15726497;19131662;19263529;19330901",{"$nulls":3},5,null,1,0,"CSF2",1,64,"非同义",12220,"0.5673=59/104","位于基因组单拷贝区域+DNA结构正常",1437,"5q31.1","NM_000758","ILE117THR|\"Chronic_obstructive_pulmonary_disease_association_with\"|17681858"]
["32630A(747)v7722",54,21,0.3889,"32630A","CSMD1","chr8:3224779","c.2900-10C>T(exon20)","非编码区","rs12542780",0.032,0.075,0.057,0.092,0.078,0.09,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,21,0,"CSMD1",1,170,"非编码区",16102,"0.3793=22/58","位于基因组单拷贝区域+DNA结构正常",64478,"8p23.2","NM_033225"]
["32630A(747)v7745",14,14,1,"32630A","CSNK1A1L","chr13:37679535","c.-142C>G(exon1)","非编码区","rs9576176",0.6,0.82,0.82,0.82,0.8,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CSNK1A1L",1,230,"非编码区",14200,"1.0000=17/17","位于基因组单拷贝区域+DNA结构正常",122011,"13q13.3","NM_145203"]
["32630A(747)v7796",33,33,1,"32630A","CST9L","chr20:23549166","c.-79G>T(exon1)","非编码区","rs6083172",0.37,0.53,0.55,0.5,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CST9L",1,130,"非编码区",14200,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",128821,"20p11.21","NM_080610"]
["32630A(747)v7842",5,5,1,"32630A","CTBP2","chr10:126677202","c.*885A>G(exon9)","非编码区","rs1058498",{"$nulls":6},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,70,0,"CTBP2",1,57,"非编码区",14300,"1.0000=5/5","位于基因组多拷贝区域+DNA结构正常",1488,"10q26.13","NM_022802"]
["32630A(747)v7867",45,8,0.1778,"32630A","CTBP2","chr10:126678123-126678123","c.2922(exon9)delA","p.K974Nfs*33","rs140913543",{"$nulls":5},0.45,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,70,0,"CTBP2",1,57,"移码",2130,"0.2353=12/51","位于基因组多拷贝区域+DNA结构正常",1488,"10q26.13","NM_022802"]
["32630A(747)v7924",79,79,1,"32630A","CTLA4","chr2:204732714","c.49A>G(exon1)","p.T17A","rs231775",0.43,0.67,0.66,0.69,0.68,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","9398726;9259273;15452244;15726497;16380915","自身免疫性淋巴增生综合征5型","AD",616100,5,1,1,5,"CTLA4",1,150,"非同义",11200,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",1493,"2q33","NM_005214","rs231775|\"IDDM_association_with\"|9259273","THR17ALA|risk factor|OMIM:609755|OMIM:123890.0001|no assertion criteria provided|PubMed:9398726","THR17ALA|601388;140300;152700|123890.0001.3"]
["32630A(747)v7955",77,42,0.5455,"32630A","CTSD","chr11:1780867","c.231C>T(exon3)","p.A77A","rs2230067",0.055,0.036,0.029,0.044,0.037,0.031,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","神经元蜡样脂褐质沉积症10型","AR",610127,5,3,5,1,"CTSD",1,74,"同义",13202,"0.5682=50/88","位于基因组单拷贝区域+DNA结构正常",1509,"11p15.5","NM_001909",null,"rs2230067|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v7987",86,86,1,"32630A","CUBN","chr10:16943371","c.8150C>G(exon52)","p.S2717W","rs2796835",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20398757,"巨幼细胞性贫血1型/维生素B12选择性吸收障碍综合征","AR",261100,5,1,18,1,"CUBN",1,180,"非同义",12220,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",8029,"10p12.31","NM_001081"]
["32630A(747)v8053",6,6,1,"32630A","CX3CL1","chr16:57417134","c.*190G>T(exon3)","非编码区","rs4151117",0.69,0.64,0.65,0.63,0.63,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",25383745,{"$nulls":3},5,null,1,0,"CX3CL1",1,55,"非编码区",14200,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",6376,"16q13","NM_002996"]
["32630A(747)v8056",2,2,1,"32630A","CXADR","chr21:18939304","c.*1294G>A(exon7)","非编码区","rs450291",0.98,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CXADR",1,120,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",1525,"21q21.1","NM_001338"]
["32630A(747)v8108",48,48,1,"32630A","CXorf56","chrX:118699320","c.-256T>C(exon1)","非编码区","rs5910616",null,1,1,1,null,1,"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"CXorf56",1,81,"非编码区",14300,"1.0000=51/51","位于基因组单拷贝区域+DNA结构正常",63932,"Xq23","NM_001170569"]
["32630A(747)v8162",9,9,1,"32630A","CYP11B2","chr8:143993157","c.*239T>C(exon9)","非编码区","rs9297975",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"醛固酮缺乏症2型","AR",610600,5,1,8,2,"CYP11B2",1,96,"非编码区",14200,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",1585,"8q21-q22","NM_000498"]
["32630A(747)v8186",88,62,0.7045,"32630A","CYP21A2","chr6:32006858","c.293-13C>A(exon3)","非编码区","rs6467",null,0.73,0.73,0.72,0.66,0.72,"杂合","未知","剪切位点预测结果为无害","2845408;19654554;25249698","21-羟化酶缺陷导致的先天性肾上腺皮质增生症","AR",201910,4,3,5,1,"CYP21A2",1,120,"非编码区",16302,"0.7222=78/108","位于基因组多拷贝区域+DNA结构正常",1589,"6p21.3","NM_000500","rs6467|\"Adrenal_hyperplasia\"|2845408","rs6467|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v8218",66,66,1,"32630A","CYP2A7","chr19:41387669","c.181-13T>C(exon2)","非编码区","rs10425185",0.8,0.71,0.74,0.68,0.7,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"CYP2A7",1,160,"非编码区",16202,"1.0000=72/72","位于基因组多拷贝区域+DNA结构正常",1549,"19q13.2","NM_000764"]
["32630A(747)v8233",113,113,1,"32630A","CYP2E1","chr10:135351362","c.1263T>C(exon8)","p.F421F","rs2515641",0.7,0.81,0.82,0.81,0.81,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16385451;18663376;19131562;24654912;24944790",{"$nulls":3},5,null,5,0,"CYP2E1",1,120,"同义",13203,"1.0000=142/142","位于基因组单拷贝区域+DNA结构正常",1571,"10q24.3-qter","NM_000773"]
["32630A(747)v8304",68,28,0.4118,"32630A","CYTH2","chr19:48972740","c.-25T>C(exon1)","非编码区","rs8106937",0.13,0.067,0.076,0.058,0.039,0.09,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CYTH2",1,97,"非编码区",14200,"0.3974=31/78","位于基因组单拷贝区域+DNA结构正常",9266,"19q13.33","NM_017457"]
["32630A(747)v8349",133,133,1,"32630A","DAK","chr11:61108974","c.553G>A(exon6)","p.A185T","rs2260655",0.79,0.97,0.98,0.97,0.96,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DAK",1,64,"非同义",12220,"1.0000=148/148","位于基因组单拷贝区域+DNA结构正常",26007,"11q12.2","NM_015533"]
["32630A(747)v8365",24,24,1,"32630A","DARS","chr2:136743143","c.-105C>G(exon1)","非编码区","rs2278682",0.3,0.45,0.47,0.43,0.39,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"髓鞘化低下伴脑干和脊髓受累及腿部痉挛","AR",615281,5,1,3,1,"DARS",1,220,"非编码区",14200,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",1615,"2q21.3","NM_001349"]
["32630A(747)v8419",91,42,0.4615,"32630A","DCC","chr18:50683844","c.1380A>C(exon8)","p.Q460H","rs199848449",2E-3,0.0096,0,0.019,0.011,0.0077,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"食管癌","AD",133239,3,1,6,3,"DCC",1,190,"非同义",12120,"0.4220=46/109","位于基因组单拷贝区域+DNA结构正常",1630,"18q21.3","NM_005215"]
["32630A(747)v8451",119,56,0.4706,"32630A","DCHS2","chr4:155295076","c.458T>C(exon4)","p.V153A","rs11721758",0.35,0.37,0.36,0.37,0.37,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"DCHS2",1,110,"非同义",12220,"0.4815=65/135","位于基因组单拷贝区域+DNA结构正常",54798,"4q31.3","NM_017639"]
["32630A(747)v8479",168,168,1,"32630A","DCP1B","chr12:2055266","c.*106A>G(exon9)","非编码区","rs7222",0.51,0.75,0.78,0.73,0.72,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"DCP1B",1,120,"非编码区",14200,"1.0000=204/204","位于基因组单拷贝区域+DNA结构正常",196513,"12p13.33","NM_152640"]
["32630A(747)v8545",157,157,1,"32630A","DDX11","chr12:31254752","c.2053-15C>T(exon21)","非编码区","rs7966272",0.63,0.8,0.8,0.81,0.77,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"华沙染色体断裂综合征","AR",613398,5,1,14,1,"DDX11",1,220,"非编码区",16202,"1.0000=206/206","位于基因组多拷贝区域+DNA结构正常",1663,"12p11","NM_030653"]
["32630A(747)v8554",123,59,0.4797,"32630A","DDX19B","chr16:70365612","c.1024-13C>A(exon10)","非编码区","rs145498574",0.0002,0.0024,0,0.0049,0.0037,0.00084,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"DDX19B",0.95,200,"非编码区",16102,"0.4698=70/149","位于基因组单拷贝区域+DNA结构正常",11269,"16q22.1","NM_007242"]
["32630A(747)v8615",202,202,1,"32630A","DDX60L","chr4:169282355","c.4936A>G(exon37)","p.M1646V","rs2684348",0.58,0.77,0.77,0.77,0.76,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,17,0,"DDX60L",1,200,"非同义",12220,"1.0000=236/236","位于基因组单拷贝区域+DNA结构正常",91351,"4q32.3","NM_001012967"]
["32630A(747)v8633",36,22,0.6111,"32630A","DECR2","chr16:460673","c.463-18G>A(exon6)","非编码区","rs3743895",0.11,0.2,0.18,0.22,0.19,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DECR2",1,64,"非编码区",16202,"0.6279=27/43","位于基因组单拷贝区域+DNA结构正常",26063,"16p13.3","NM_020664"]
["32630A(747)v8686",28,16,0.5714,"32630A","DENND2A","chr7:140227246","c.2377G>A(exon13)","p.A793T","rs777661670",{"$nulls":5},0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"DENND2A",1,87,"非同义",12320,"0.5667=17/30","位于基因组单拷贝区域+DNA结构正常",27147,"7q34","NM_015689"]
["32630A(747)v8731",17,8,0.4706,"32630A","DERL3","chr22:24176960-24176960","c.*2287(exon6)delT","非编码区","rs35305666",{"$nulls":4},0.3,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"DERL3",1,70,"非编码区",2430,"0.5000=10/20","位于基因组单拷贝区域+DNA结构正常",91319,"22q11.23","NM_198440"]
["32630A(747)v8747",40,40,1,"32630A","DFNB31","chr9:117188566","c.1091G>A(exon4)","p.R364H","rs10817610",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"尤塞氏综合症IID型",null,611383,5,1,9,2,"DFNB31",1,55,"非同义",12230,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",25861,"9q32","NM_015404",null,"rs10817610|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v8814",89,42,0.4719,"32630A","DHRS3","chr1:12628459","c.825-6C>T(exon6)","非编码区","rs11121940",0.13,0.14,0.13,0.16,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DHRS3",1,65,"非编码区",16202,"0.5050=51/101","位于基因组单拷贝区域+DNA结构正常",9249,"1p36.1","NM_004753"]
["32630A(747)v8856",115,43,0.3739,"32630A","DHX37","chr12:125444975","c.2046-6A>G(exon16)","非编码区","rs4765007",0.57,0.77,0.77,0.77,0.78,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"DHX37",1,59,"非编码区",16202,"0.3730=47/126","位于基因组单拷贝区域+DNA结构正常",57647,"12q24.31","NM_032656"]
["32630A(747)v8868",127,63,0.4961,"32630A","DHX38","chr16:72142111","c.2965-15T>G(exon22)","非编码区","rs3815192",0.031,0.043,0.033,0.053,0.05,0.057,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,11,0,"DHX38",1,97,"非编码区",16102,"0.5072=70/138","位于基因组单拷贝区域+DNA结构正常",9785,"16q22","NM_014003"]
["32630A(747)v8927",33,19,0.5758,"32630A","DISC1","chr1:231830295","c.791G>A(exon2)","p.R264Q","rs3738401",0.23,0.23,0.27,0.2,0.23,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20531374;15386212;16389590;17673452;17997036","精神分裂症","AD",181500,5,1,9,2,"DISC1",0.93,100,"非同义",12220,"0.5789=22/38","位于基因组单拷贝区域+DNA结构正常",27185,"1q42.1","NM_001164537","ARG264GLN|\"Schizophrenia_ultra-resistant_association_with\"|20531374","rs3738401|not provided|NA|NA|no assertion provided|NA"]
["32630A(747)v8934",2,2,1,"32630A","DISC1","chr1:232145221","c.*321A>G(exon11)","非编码区","rs1772690",0.25,0.13,0.11,0.15,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精神分裂症9型",null,604906,5,2,9,2,"DISC1",0.93,100,"非编码区",14200,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",27185,"1q42.1","NM_001164538"]
["32630A(747)v8979",36,23,0.6389,"32630A","DLEC1","chr3:38158122","c.4035G>A(exon28)","p.S1345S","rs114701641",0.016,0.014,0.0095,0.019,0.0089,0.0042,"杂合","未知","预测范围之外的同义突变",null,"食管癌","AD",133239,4,1,7,2,"DLEC1",1,76,"同义",13103,"0.6216=23/37","位于基因组单拷贝区域+DNA结构正常",9940,"3p21.3","NM_007335"]
["32630A(747)v9033",110,110,1,"32630A","DMD","chrX:32382778","c.5051C>G(exon36)","p.T1684R","rs755587394",{"$nulls":5},0.00015,"半合子","可能相关","Provean软件蛋白结构预测可能有害",null,"杜氏肌营养不良/进行性假肥大性肌营养不良症","XR",310200,2,1,7,3,"DMD",1,100,"非同义",12310,"1.0000=126/126","位于基因组单拷贝区域+DNA结构正常",1756,"Xp21.2","NM_000109"]
["32630A(747)v9061",97,97,1,"32630A","DMXL1","chr5:118484804","c.3282G>A(exon18)","p.E1094E","rs7734532",0.62,0.96,0.95,0.97,0.95,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"DMXL1",1,170,"同义",13203,"1.0000=111/111","位于基因组单拷贝区域+DNA结构正常",1657,"5q22","NM_005509"]
["32630A(747)v9103",135,133,0.9852,"32630A","DNAH11","chr7:21659554-21659555","c.4393-20(exon25)_c.4393-19(exon25)insTTAAT","非编码区","rs112373177",0.51,0.74,0.75,0.72,0.69,0.74,"纯合","未知","内含子突变",null,"原发性纤毛运动障碍7型（伴或不伴内脏异位）","AR",611884,4,1,20,1,"DNAH11",1,190,"非编码区",2500,"0.9869=151/153","位于基因组单拷贝区域+DNA结构正常",8701,"7p21","NM_003777"]
["32630A(747)v9117",19,9,0.4737,"32630A","DNAH14","chr1:225211735-225211738","c.*164(exon11)_c.*167(exon11)delCTTA","非编码区","rs34456418",0.11,0.23,0.25,0.21,0,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,29,0,"DNAH14",1,230,"非编码区",2420,"0.4815=13/27","位于基因组单拷贝区域+DNA结构正常",127602,"1q42.12","NM_001145154"]
["32630A(747)v9174",19,19,1,"32630A","DNAH1","chr3:52415865","c.7805+13A>G(exon49)","非编码区","rs770284",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DNAH1",1,71,"非编码区",16203,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",25981,"3p21.1","NM_015512"]
["32630A(747)v9215",159,159,1,"32630A","DNAH7","chr2:196866420","c.1152G>A(exon11)","p.T384T","rs6434811",0.65,0.65,0.62,0.67,0.67,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"DNAH7",1,190,"同义",13203,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",56171,"2q32.3","NM_018897"]
["32630A(747)v9249",139,74,0.5324,"32630A","DNAJA3","chr16:4484396","c.223A>T(exon2)","p.N75Y","rs1139653",0.63,0.73,0.69,0.77,0.71,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DNAJA3",1,89,"非同义",12220,"0.5200=78/150","位于基因组单拷贝区域+DNA结构正常",9093,"16p13.3","NM_005147"]
["32630A(747)v9306",26,14,0.5385,"32630A","DNHD1","chr11:6541580","c.*239T>G(exon8)","非编码区","rs2555143",0.59,0.3,0.29,0.32,0.29,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"DNHD1",1,69,"非编码区",14200,"0.5517=16/29","位于基因组单拷贝区域+DNA结构正常",144132,"11p15.4","NM_173589"]
["32630A(747)v9338",46,46,1,"32630A","DNPEP","chr2:220250147","c.773T>C(exon8)","p.V258A","rs907679",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DNPEP",1,82,"非同义",12230,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",23549,"2q35","NM_012100"]
["32630A(747)v9375",23,23,1,"32630A","DOCK5","chr8:25203022","c.2649A>G(exon26)","p.T883T","rs2468902",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"DOCK5",1,150,"同义",13203,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",80005,"8p21.2","NM_024940"]
["32630A(747)v9423",2,2,1,"32630A","DOK7","chr4:3495477","c.*249T>C(exon7)","非编码区","rs2858030",0.74,0.89,0.9,0.89,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胎儿运动不能畸形序列征(Pena-Shokeir综合征I型)","AR",208150,5,1,5,2,"DOK7",1,31,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",285489,"4p16.3","NM_173660"]
["32630A(747)v9436",113,54,0.4779,"32630A","DPCR1","chr6:30920086","c.3845C>T(exon2)","p.T1282M","rs79792575",0.049,0.07,0.052,0.087,0.068,0.063,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,6,0,"DPCR1",1,190,"非同义",12120,"0.5197=66/127","位于基因组单拷贝区域+DNA结构正常",135656,"6p21.33","NM_080870"]
["32630A(747)v9483",148,61,0.4122,"32630A","DPPA4","chr3:109052732","c.163A>G(exon2)","p.I55V","rs3762648",0.48,0.75,0.8,0.69,0.71,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DPPA4",1,140,"非同义",12220,"0.4372=80/183","位于基因组单拷贝区域+DNA结构正常",55211,"3q13.13","NM_018189"]
["32630A(747)v9511",4,4,1,"32630A","DPYSL4","chr10:134018834","c.*400C>T(exon14)","非编码区","rs2279523",0.18,0.57,0.56,0.59,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"DPYSL4",1,71,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",10570,"10q26","NM_006426"]
["32630A(747)v9573",208,206,0.9904,"32630A","DSG1","chr18:28898294","c.31A>G(exon1)","p.M11V","rs1426310",0.36,0.062,0.071,0.053,0.069,0.059,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24629169,"掌跖角化病，多毛症，以及高IgE相关的先天性红皮症","AR",615508,5,1,4,2,"DSG1",1,190,"非同义",12220,"0.9916=237/239","位于基因组单拷贝区域+DNA结构正常",1828,"18q12.1","NM_001942"]
["32630A(747)v9594",116,105,0.9052,"32630A","DSPP","chr4:88536883-88536885","c.3069(exon5)_c.3071(exon5)delTAG","p.N1023_S1024delinsN","rs750849673",{"$nulls":6},"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"常染色体显性遗传性耳聋39型并牙本质发育不全1","AD",605594,3,1,17,4,"DSPP",1,350,"非移码",2233,"0.9051=124/137","位于基因组单拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208"]
["32630A(747)v9598",185,185,1,"32630A","DSPP","chr4:88537151-88537159","c.3337(exon5)_c.3345(exon5)delGATAGCAGT","p.D1113_S1115del",{"$nulls":6},0,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"牙质形成不全，SHIELDS3型","AD",125500,3,1,17,4,"DSPP",1,350,"非移码",2243,"1.0000=219/219","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208"]
["32630A(747)v9617",109,55,0.5046,"32630A","DST","chr6:56463410","c.3923A>G(exon27)","p.Q1308R","rs4712138",0.33,0.23,0.21,0.25,0.24,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性感觉自主神经病6型","AR",614653,5,3,10,2,"DST",1,140,"非同义",12220,"0.5076=67/132","位于基因组单拷贝区域+DNA结构正常",667,"6p12.1","NM_015548"]
["32630A(747)v9621",161,76,0.472,"32630A","DST","chr6:56505063","c.757T>C(exon4)","p.L253L","rs2144407",0.13,0.022,0.029,0.015,0.028,0.021,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性感觉自主神经病6型","AR",614653,5,3,10,2,"DST",1,140,"同义",13203,"0.4813=90/187","位于基因组单拷贝区域+DNA结构正常",667,"6p12.1","NM_015548"]
["32630A(747)v9665",397,203,0.5113,"32630A","DUSP12","chr1:161721707","c.510C>T(exon3)","p.Y170Y","rs1063178",0.36,0.46,0.5,0.43,0.45,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","21211013;23222812",{"$nulls":3},5,null,2,0,"DUSP12",1,160,"同义",13203,"0.5185=252/486","位于基因组单拷贝区域+DNA结构正常",11266,"1q21-q22","NM_007240"]
["32630A(747)v9727",25,25,1,"32630A","DYNC1I1","chr7:95727014","c.*109T>C(exon17)","非编码区","rs7794344",0.9,1,1,1,0.98,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DYNC1I1",1,200,"非编码区",14200,"1.0000=29/29","位于基因组单拷贝区域+DNA结构正常",1780,"7q21.3-q22.1","NM_004411"]
["32630A(747)v9748",68,44,0.6471,"32630A","DYX1C1","chr15:55759193","c.572A>G(exon5)","p.E191G","rs600753",0.53,0.75,0.77,0.74,0.77,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18288507;19240663","原发性纤毛运动障碍25型","AR",615482,5,3,2,2,"DYX1C1",1,160,"非同义",12210,"0.5789=44/76","位于基因组单拷贝区域+DNA结构正常",161582,"15q21.3","NM_130810"]
["32630A(747)v9788",48,22,0.4583,"32630A","EBI3","chr19:4237067","c.672A>G(exon5)","p.T224T","rs4905",0.46,0.48,0.49,0.47,0.45,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"EBI3",1,52,"同义",13203,"0.4151=22/53","位于基因组单拷贝区域+DNA结构正常",10148,"19p13.3","NM_005755"]
["32630A(747)v9807",64,64,1,"32630A","ECHDC3","chr10:11797467","c.451G>A(exon4)","p.A151T","rs7910140",0.92,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ECHDC3",1,69,"非同义",12230,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",79746,"10p14","NM_024693"]
["32630A(747)v9860",60,60,1,"32630A","EEF1D","chr8:144662353","c.1734C>T(exon9)","p.A578A","rs1062391",0.37,0.37,0.37,0.36,0.37,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"EEF1D",1,39,"同义",13203,"1.0000=68/68","位于基因组多拷贝区域+DNA结构正常",1936,"8q24.3","NM_032378"]
["32630A(747)v9904",205,205,1,"32630A","EFHA2","chr8:16942837","c.777+10C>T(exon6)","非编码区","rs2285264",0.7,0.83,0.85,0.81,0.83,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"EFHA2",1,200,"非编码区",16203,"1.0000=233/233","位于基因组单拷贝区域+DNA结构正常",286097,"8p22","NM_181723"]
["32630A(747)v9915",6,6,1,"32630A","EFR3A","chr8:132916459","c.-101T>C(exon1)","非编码区","rs28627763",0.48,0.62,0.64,0.59,0.66,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"EFR3A",1,230,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",23167,"8q24.22","NM_015137"]
["32630A(747)v9969",61,61,1,"32630A","EIF1AD","chr11:65767153","c.197-7T>C(exon4)","非编码区","rs507672",0.75,0.78,0.76,0.8,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"EIF1AD",1,68,"非编码区",16202,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",84285,"11q13.1","NM_001242481"]
["32630A(747)v10005",190,61,0.3211,"32630A","EIF3C","chr16:28734477","c.777-8G>T(exon9)","非编码区","rs444518",{"$nulls":4},0.1,0.083,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"EIF3C",1,180,"非编码区",16302,"0.2933=66/225","位于基因组多拷贝区域+DNA结构正常",8663,"16p11.2","NM_001199142"]
["32630A(747)v10042",23,8,0.3478,"32630A","ELAC2","chr17:12896074","c.*61A>G(exon24)","非编码区","rs13641",0.058,0.22,0.22,0.21,0.27,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"氧化磷酸化偶联障碍17型","AR",615440,5,3,4,2,"ELAC2",1,120,"非编码区",14200,"0.3200=8/25","位于基因组单拷贝区域+DNA结构正常",60528,"17p11.2","NM_018127"]
["32630A(747)v10102",31,17,0.5484,"32630A","EMC8","chr16:85813231","c.*83T>G(exon5)","非编码区","rs8587",0.56,0.21,0.2,0.22,0.21,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24968232,{"$nulls":3},5,null,2,0,"EMC8",1,70,"非编码区",14200,"0.5278=19/36","位于基因组单拷贝区域+DNA结构正常",10328,"16q24","NM_006067"]
["32630A(747)v10114",20,11,0.55,"32630A","EMILIN2","chr18:2913431","c.*29T>C(exon8)","非编码区","rs1790994",0.22,0.43,0.43,0.42,0.44,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"EMILIN2",1,78,"非编码区",14200,"0.6087=14/23","位于基因组单拷贝区域+DNA结构正常",84034,"18p11.3","NM_032048"]
["32630A(747)v10171",98,39,0.398,"32630A","ENO3","chr17:4856376","c.212A>G(exon4)","p.N71S","rs238238",0.56,0.38,0.36,0.39,0.35,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"糖原累积症XIII型","AR",612932,5,3,1,1,"ENO3",1,100,"非同义",12220,"0.4000=48/120","位于基因组单拷贝区域+DNA结构正常",2027,"17pter-p11","NM_001976"]
["32630A(747)v10227",64,32,0.5,"32630A","ENTPD7","chr10:101464333","c.1708C>T(exon13)","p.L570L",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ENTPD7",1,120,"同义",13403,"0.5000=36/72","位于基因组单拷贝区域+DNA结构正常",57089,"-","NM_020354"]
["32630A(747)v10239",112,112,1,"32630A","EP300","chr22:41569609","c.4618-18C>T(exon29)","非编码区","rs2076578",0.26,0.46,0.42,0.5,0.51,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"Rubinstein-Taybi综合征2型","AD",613684,5,1,3,2,"EP300",1,120,"非编码区",16202,"1.0000=132/132","位于基因组单拷贝区域+DNA结构正常",2033,"22q13.2","NM_001429",null,"rs2076578|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v10280",194,99,0.5103,"32630A","EPHA4","chr2:222308226","c.1875A>G(exon10)","p.K625K","rs10498111",0.089,0.1,0.076,0.13,0.13,0.095,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17903293;17903299",{"$nulls":3},5,null,1,0,"EPHA4",1,140,"同义",13203,"0.4978=112/225","位于基因组单拷贝区域+DNA结构正常",2043,"2q36.1","NM_004438"]
["32630A(747)v10312",129,69,0.5349,"32630A","EPHX1","chr1:226019633","c.337T>C(exon3)","p.Y113H","rs1051740",0.31,0.45,0.47,0.43,0.42,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","9288046;7516776;17048007;17054776;17160896","子痫前期/子痫1型","AD",189800,5,1,2,2,"EPHX1",1,85,"非同义",11200,"0.5411=79/146","位于基因组单拷贝区域+DNA结构正常",2052,"1q42.1","NM_000120","TYR113HIS|\"Epoxide_hydrolase_deficiency_association_with\"|7516776","TYR113HIS|risk factor|NA|OMIM:132810.0001|no assertion criteria provided|PubMed:9288046","TYR113HIS|189800|132810.0001.1"]
["32630A(747)v10369",46,23,0.5,"32630A","ERBB3","chr12:56477694","c.234+8A>T(exon2)","非编码区","rs2271194",0.59,0.75,0.75,0.75,0.76,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17924335;19361613;19956108","先天致死性挛缩综合征2型","AR",607598,5,3,4,1,"ERBB3",1,110,"非编码区",16203,"0.4800=24/50","位于基因组单拷贝区域+DNA结构正常",2065,"12q13","NM_001982"]
["32630A(747)v10396",61,61,1,"32630A","ERCC6","chr10:50740600","c.411G>A(exon2)","p.L137L","rs4253013",0.18,0.42,0.43,0.41,0.33,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"脑额骨综合征1型","AR",214150,5,1,4,6,"ERCC6",1,150,"同义",13203,"1.0000=75/75","位于基因组单拷贝区域+DNA结构正常",2074,"10q11.23","NM_000124",null,"rs4253013|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:18414213"]
["32630A(747)v10402",61,30,0.4918,"32630A","ERI1","chr8:8887543-8887545","c.1049(exon7)_c.*1(exon7)delAAC","p.X350Xfs*1","rs140242735",null,0.67,0.67,0.67,0.085,0.68,"杂合","较高","终止密码子突变，导致蛋白编码延长",{"$nulls":4},1,null,2,0,"ERI1",1,210,"延长",2830,"0.4930=35/71","位于基因组单拷贝区域+DNA结构正常",90459,"8p23.1","NM_153332"]
["32630A(747)v10459",14,8,0.5714,"32630A","ESR2","chr14:64694082","c.*169A>G(exon9)","非编码区","rs8018687",0.2,0.11,0.1,0.11,0.079,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19654868,{"$nulls":3},5,null,4,0,"ESR2",1,100,"非编码区",14200,"0.6000=9/15","位于基因组单拷贝区域+DNA结构正常",2100,"14q23.2","NM_001040276"]
["32630A(747)v10474",4,4,1,"32630A","ESRRB","chr14:76967305","c.*241T>C(exon11)","非编码区","rs3813545",0.2,0.3,0.32,0.27,0.24,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传耳聋35型",null,608565,5,1,2,1,"ESRRB",1,74,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",2103,"14q24.3","NM_004452"]
["32630A(747)v10519",182,180,0.989,"32630A","EVC","chr4:5747078","c.939+10A>G(exon7)","非编码区","rs2286342",0.59,0.33,0.3,0.35,0.34,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weyers头面骨发育不全综合征","AD",193530,5,1,11,2,"EVC",0.94,110,"非编码区",16203,"0.9902=203/205","位于基因组单拷贝区域+DNA结构正常",2121,"4p16","NM_153717"]
["32630A(747)v10580",8,7,0.875,"32630A","EXOC3L4","chr14:103568729","c.669A>G(exon2)","p.E223E","rs10142200",0.53,0.63,0.62,0.63,0.65,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"EXOC3L4",1,39,"同义",13203,"0.8750=7/8","位于基因组单拷贝区域+DNA结构正常",91828,"14q32.32","NM_001077594"]
["32630A(747)v10609",101,101,1,"32630A","EXPH5","chr11:108380335","c.5899A>G(exon6)","p.N1967D","rs1943382",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"非特异性大疱性表皮松解症","AR",615028,5,1,5,1,"EXPH5",1,110,"非同义",12230,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",23086,"11q22.3","NM_015065"]
["32630A(747)v10646",110,110,1,"32630A","EYS","chr6:66005888","c.1891G>A(exon12)","p.G631S","rs9342464",0.6,0.95,0.96,0.95,0.93,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性25型-AR",null,602772,5,1,21,1,"EYS",1,160,"非同义",12220,"1.0000=116/116","位于基因组单拷贝区域+DNA结构正常",346007,"6q12","NM_001142800",null,"GLY631SER|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v10680",295,163,0.5525,"32630A","F5","chr1:169510139","c.4189C>T(exon13)","p.L1397F","rs13306334",0.17,0.64,0.6,0.68,0.65,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"习惯性流产1型（易感）","AD",614389,5,1,10,5,"F5",1,200,"非同义",12220,"0.5420=200/369","位于基因组多拷贝区域+DNA结构正常",2153,"1q23","NM_000130"]
["32630A(747)v10684",146,66,0.4521,"32630A","F5","chr1:169521849","c.1242A>G(exon8)","p.K414K","rs6035",0.083,0.077,0.086,0.068,0.048,0.063,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16542711,"缺血性中风（易感）",null,601367,5,2,10,5,"F5",1,200,"同义",13203,"0.4639=77/166","位于基因组单拷贝区域+DNA结构正常",2153,"1q23","NM_000130","rs6035|\"Thrombosis_increased_risk\"|16542711"]
["32630A(747)v10709",105,32,0.3048,"32630A","FAHD2B","chr2:97749417","c.*75G>A(exon8)","非编码区","rs140620633",{"$nulls":4},0.42,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"FAHD2B",1,220,"非编码区",14300,"0.3136=37/118","位于基因组多拷贝区域+DNA结构正常",151313,"2q11.2","NM_199336"]
["32630A(747)v10745",39,19,0.4872,"32630A","FAM118A","chr22:45723842","c.420G>A(exon5)","p.R140R","rs17851057",0.54,0.56,0.51,0.61,0.48,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"FAM118A",1,100,"同义",13203,"0.5000=21/42","位于基因组单拷贝区域+DNA结构正常",55007,"22q13","NM_001104595"]
["32630A(747)v10802",28,28,1,"32630A","FAM134B","chr5:16508898","c.-177A>G(exon1)","非编码区","rs33684",0.54,0.51,0.5,0.51,0.44,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性感觉自主神经病IIB型","AR",613115,5,1,3,1,"FAM134B",1,110,"非编码区",14200,"1.0000=34/34","位于基因组单拷贝区域+DNA结构正常",54463,"5p15.1","NM_019000"]
["32630A(747)v10837",508,154,0.3031,"32630A","FAM153B","chr5:175533585","c.623C>T(exon15)","p.P208L","rs62389255",{"$nulls":4},0.42,0.027,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"FAM153B",1,650,"非同义",12320,"0.3195=216/676","位于基因组多拷贝区域+DNA结构正常",202134,"5q35.2","NM_001265615"]
["32630A(747)v10877",99,58,0.5859,"32630A","FAM168A","chr11:73120653","c.474T>C(exon6)","p.H158H","rs10793060",0.29,0.062,0.052,0.073,0.085,0.062,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"FAM168A",1,150,"同义",13203,"0.5909=65/110","位于基因组单拷贝区域+DNA结构正常",23201,"11q13.4","NM_015159"]
["32630A(747)v10935",60,60,1,"32630A","FAM184B","chr4:17694943","c.1470T>C(exon6)","p.L490L","rs3733579",0.66,0.92,0.91,0.92,0.9,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"FAM184B",1,81,"同义",13203,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",27146,"4p16","NM_015688"]
["32630A(747)v10948",184,184,1,"32630A","FAM186A","chr12:50746348","c.4267T>C(exon4)","p.F1423L","rs7304951",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"FAM186A",1,180,"非同义",12220,"1.0000=207/207","位于基因组多拷贝区域+DNA结构正常",121006,"12q13.12","NM_001145475"]
["32630A(747)v10991",36,36,1,"32630A","FAM193B","chr5:176951276","c.2206T>C(exon6)","p.S736P","rs337382",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FAM193B",0.99,44,"非同义",12220,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",54540,"5q35.3","NM_001190946"]
["32630A(747)v11064",35,14,0.4,"32630A","FAM218A","chr4:165878170","c.-5A>G(exon1)","非编码区","rs3733419",0.3,0.62,0.63,0.62,0.6,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"FAM218A",1,56,"非编码区",14200,"0.4103=16/39","位于基因组单拷贝区域+DNA结构正常",152756,"4q32.3","NM_153027"]
["32630A(747)v11089",120,69,0.575,"32630A","FAM227B","chr15:49860547-49860547","c.646-4(exon9)delT","非编码区","rs397806459",0.16,0.38,0.37,0.38,0.033,null,"杂合","未知","内含子突变",{"$nulls":4},4,null,3,0,"FAM227B",1,210,"非编码区",2500,"0.5659=73/129","位于基因组单拷贝区域+简单重复结构",196951,"15q21.2","NM_152647"]
["32630A(747)v11139",53,53,1,"32630A","FAM63A","chr1:150975108","c.130A>G(exon3)","p.K44E","rs771205",0.76,0.82,0.85,0.79,0.78,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FAM63A",1,76,"非同义",12220,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",55793,"1q21.3","NM_001163258"]
["32630A(747)v11154",14,14,1,"32630A","FAM69C","chr18:72114455","c.262G>A(exon2)","p.E88K","rs8087020",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FAM69C",1,46,"非同义",12220,"1.0000=16/16","位于基因组单拷贝区域+DNA结构正常",125704,"18q22.3","NM_001044369"]
["32630A(747)v11218",5,5,1,"32630A","FAM83H","chr8:144808003","c.*88C>G(exon5)","非编码区","rs4875045",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"牙釉质发育不全症3型","AD",130900,5,1,3,1,"FAM83H",1,24,"非编码区",14200,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",286077,"8q24.3","NM_198488"]
["32630A(747)v11271",36,36,1,"32630A","FANCA","chr16:89857964","c.1226-20A>G(exon14)","非编码区","rs1800330",0.57,0.74,0.7,0.78,0.81,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"范可尼贫血,互补A组","AR",227650,5,1,12,1,"FANCA",1,98,"非编码区",16202,"1.0000=39/39","位于基因组多拷贝区域+DNA结构正常",2175,"16q24.3","NM_000135"]
["32630A(747)v11275",50,22,0.44,"32630A","FANCA","chr16:89882281","c.189+4A>G(exon2)","非编码区","rs374822922",{"$nulls":4},0.00034,0,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",null,"范可尼贫血,互补A组","AR",227650,2,3,12,1,"FANCA",1,98,"非编码区",16301,"0.4314=22/51","位于基因组单拷贝区域+DNA结构正常",2175,"16q24.3","NM_000135"]
["32630A(747)v11346",27,19,0.7037,"32630A","FASN","chr17:80039481","c.6402C>T(exon37)","p.I2134I","rs1140616",0.3,0.33,0.3,0.37,0.34,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"FASN",1,48,"同义",13203,"0.7000=21/30","位于基因组单拷贝区域+DNA结构正常",2194,"17q25","NM_004104"]
["32630A(747)v11377",20,20,1,"32630A","FAT2","chr5:150887184-150887185","c.12060-13(exon22)_c.12060-12(exon22)insTCT","非编码区","rs75548276",null,0.97,0.97,0.97,0.93,0.98,"纯合","未知","内含子突变",{"$nulls":4},4,null,13,0,"FAT2",1,88,"非编码区",2500,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",2196,"5q33.1","NM_001447"]
["32630A(747)v11409",3,3,1,"32630A","FAXC","chr6:99726388","c.*2652G>A(exon6)","非编码区","rs1988009",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FAXC",1,150,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",84553,"6q16.2","NM_032511"]
["32630A(747)v11438",39,20,0.5128,"32630A","FBN3","chr19:8139977","c.7680C>T(exon60)","p.H2560H","rs61729621",0.022,0.012,0.0095,0.015,0.015,0.015,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,23,0,"FBN3",1,65,"同义",13103,"0.5476=23/42","位于基因组单拷贝区域+DNA结构正常",84467,"19p13","NM_032447"]
["32630A(747)v11455",49,30,0.6122,"32630A","FBN3","chr19:8188812","c.2812G>A(exon22)","p.V938I","rs35840170",0.083,0.2,0.19,0.22,0.19,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19692420,{"$nulls":3},5,null,23,0,"FBN3",1,65,"非同义",12220,"0.6154=32/52","位于基因组单拷贝区域+DNA结构正常",84467,"19p13","NM_032447"]
["32630A(747)v11516",167,93,0.5569,"32630A","FBXO36","chr2:230841074","c.205+9C>T(exon2)","非编码区","rs499449",0.28,0.4,0.4,0.4,0.43,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"FBXO36",1,160,"非编码区",16203,"0.5526=105/190","位于基因组单拷贝区域+DNA结构正常",130888,"2q36.3","NM_174899"]
["32630A(747)v11567",44,44,1,"32630A","FCGBP","chr19:40367862","c.13098A>G(exon29)","p.P4366P","rs6508920",0.72,0.74,0.73,0.74,0.76,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,34,0,"FCGBP",1,150,"同义",13203,"1.0000=53/53","位于基因组多拷贝区域+DNA结构正常",8857,"19q13.1","NM_003890"]
["32630A(747)v11591",69,23,0.3333,"32630A","FCGBP","chr19:40408268","c.4571C>A(exon8)","p.T1524N","rs760726604",{"$nulls":4},0.18,0.05,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,34,0,"FCGBP",1,150,"非同义",12320,"0.3544=28/79","位于基因组多拷贝区域+DNA结构正常",8857,"19q13.1","NM_003890"]
["32630A(747)v11622",39,26,0.6667,"32630A","FCN2","chr9:137779306","c.*45T>G(exon8)","非编码区","rs4521835",0.46,0.33,0.35,0.31,0.32,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FCN2",1,120,"非编码区",14200,"0.6667=26/39","位于基因组单拷贝区域+DNA结构正常",2220,"9q34.3","NM_004108"]
["32630A(747)v11660",40,18,0.45,"32630A","FER1L5","chr2:97357108","c.2886+18G>A(exon27)","非编码区","rs62156206",0.078,0.14,0.13,0.14,0.12,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"FER1L5",1,95,"非编码区",16203,"0.4884=21/43","位于基因组单拷贝区域+DNA结构正常",90342,"2q11.2","NM_001113382"]
["32630A(747)v11718",78,78,1,"32630A","FGD5","chr3:14939479","c.2943G>T(exon6)","p.L981L","rs2164356",0.68,0.58,0.58,0.58,0.56,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"FGD5",1,92,"同义",13203,"1.0000=86/86","位于基因组单拷贝区域+DNA结构正常",152273,"3p25.1","NM_152536"]
["32630A(747)v11732",48,48,1,"32630A","FGF21","chr19:49259529","c.36A>G(exon1)","p.G12G","rs838133",0.77,0.99,0.99,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23372041;23824729",{"$nulls":3},5,null,3,0,"FGF21",1,52,"同义",13203,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",26291,"19q13.33","NM_019113"]
["32630A(747)v11758",116,116,1,"32630A","FGFR2","chr10:123298158","c.696A>G(exon6)","p.V232V","rs1047100",0.8,0.92,0.9,0.95,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","11781872;16385451;18285324","Beare-Stevenson皮肤旋纹综合征","AD",123790,5,1,2,11,"FGFR2",1,140,"同义",13203,"1.0000=135/135","位于基因组单拷贝区域+DNA结构正常",2263,"10q26","NM_022970"]
["32630A(747)v11799",91,40,0.4396,"32630A","FIG4","chr6:110107517","c.1961T>C(exon18)","p.V654A","rs9885672",0.45,0.39,0.37,0.42,0.38,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","Yunis-Varon综合征","AR",216340,5,3,6,4,"FIG4",1,220,"非同义",12220,"0.4592=45/98","位于基因组单拷贝区域+DNA结构正常",9896,"6q21","NM_014845",null,"VAL654ALA|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v11805",132,132,1,"32630A","FIGLA","chr2:71012734","c.422G>C(exon3)","p.S141T","rs7566476",0.76,0.94,0.93,0.95,0.93,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",25314148,"卵巢早衰6型",null,612310,5,1,4,1,"FIGLA",1,110,"非同义",12220,"1.0000=147/147","位于基因组多拷贝区域+DNA结构正常",344018,"2p13.3","NM_001004311","SER141THR|\"Premature_ovarian_failure_association_with\"|25314148"]
["32630A(747)v11831",40,26,0.65,"32630A","FLCN","chr17:17127471","c.397-14C>T(exon6)","非编码区","rs1736219",0.41,0.68,0.72,0.64,0.65,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;19116017","非乳头状肾细胞癌",null,144700,5,2,2,4,"FLCN",1,68,"非编码区",16202,"0.6591=29/44","位于基因组单拷贝区域+DNA结构正常",201163,"17p11.2","NM_144997",null,"rs1736219|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v11862",40,40,1,"32630A","FLNA","chrX:153593613","c.1582G>A(exon11)","p.V528M","rs143873938",null,0.047,0.025,0.069,0.053,0.043,"半合子","较高","该变异在数据库中有疾病相关性报道",12410386,"脑室周围结节状异位1型/X连锁显性脑室周围异位","XD",300049,1,1,1,11,"FLNA",1,36,"非同义",11300,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",2316,"Xq28","NM_001110556","VAL528MET|\"Heterotopia_periventricular\"|12410386","VAL528MET|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,"VAL528MET|Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]"]
["32630A(747)v11880",27,27,1,"32630A","FLNC","chr7:128495338","c.7221C>T(exon43)","p.D2407D","rs3816885",0.26,0.39,0.42,0.37,0.34,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"远端肌病4型","AD",614065,5,1,11,2,"FLNC",1,76,"同义",13203,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",2318,"7q32-q35","NM_001458",null,"rs3816885|Benign|NA|NA|criteria provided, single submitter|PubMed:18414213"]
["32630A(747)v11916",13,7,0.5385,"32630A","FLVCR2","chr14:76045858","c.543G>A(exon1)","p.V181V","rs2287016",0.47,0.57,0.56,0.59,0.59,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"增生性血管病和脑积水综合征","AR",225790,5,3,5,1,"FLVCR2",0.97,89,"同义",13203,"0.5714=8/14","位于基因组单拷贝区域+DNA结构正常",55640,"14q24.3","NM_017791",null,"rs2287016|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v11957",84,84,1,"32630A","FN1","chr2:216253039","c.4253-15C>G(exon27)","非编码区","rs1250215",0.41,0.19,0.19,0.19,0.23,0.23,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20617897,"血浆纤维结合蛋白缺乏症",null,614101,5,1,12,2,"FN1",1,130,"非编码区",16202,"1.0000=93/93","位于基因组单拷贝区域+DNA结构正常",2335,"2q34","NM_212482"]
["32630A(747)v11977",11,6,0.5455,"32630A","FNBP4","chr11:47788664-47788669","c.172(exon1)_c.177(exon1)delACCACC","p.T58_T59del","rs397711020",null,0.39,0.4,0.38,0,0.41,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"FNBP4",1,130,"非移码",2232,"0.5833=7/12","位于基因组单拷贝区域+DNA结构正常",23360,"11p11.2","NM_015308"]
["32630A(747)v12006",44,43,0.9773,"32630A","FNIP1","chr5:131008194","c.1943A>G(exon14)","p.Q648R","rs26008",0.87,0.79,0.81,0.76,0.8,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FNIP1",1,140,"非同义",12220,"0.9783=45/46","位于基因组单拷贝区域+DNA结构正常",96459,"5q23.3","NM_133372"]
["32630A(747)v12047",28,27,0.9643,"32630A","FOXD4L1","chr2:114256859","c.26C>T(exon1)","p.P9L","rs189095552",{"$nulls":4},0.41,0.13,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,6,0,"FOXD4L1",0.95,42,"非同义",12320,"0.9688=31/32","位于基因组多拷贝区域+DNA结构正常",200350,"2q13","NM_012184"]
["32630A(747)v12104",67,34,0.5075,"32630A","FPR1","chr19:52249672","c.576T>G(exon3)","p.N192K","rs1042229",0.37,0.26,0.26,0.26,0.31,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","21216225;23373827;25277308",{"$nulls":3},5,null,5,0,"FPR1",1,120,"非同义",12220,"0.4744=37/78","位于基因组单拷贝区域+DNA结构正常",2357,"19q13.4","NM_001193306"]
["32630A(747)v12130",111,111,1,"32630A","FRAS1","chr4:79455714","c.11037C>G(exon71)","p.P3679P","rs4975070",0.51,0.81,0.82,0.8,0.79,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Fraser综合征","AR",219000,5,1,21,1,"FRAS1",1,140,"同义",13203,"1.0000=125/125","位于基因组单拷贝区域+DNA结构正常",80144,"4q21.21","NM_025074"]
["32630A(747)v12159",94,44,0.4681,"32630A","FRG1","chr4:190862142","c.-23C>T(exon1)","非编码区","rs2411529",0.18,0.1,0.1,0.1,0.1,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"FRG1",1,410,"非编码区",14200,"0.4757=49/103","位于基因组多拷贝区域+DNA结构正常",2483,"4q35","NM_004477"]
["32630A(747)v12212",350,95,0.2714,"32630A","FRG2C","chr3:75715199","c.*7T>G(exon4)","非编码区","rs62247962",{"$nulls":4},0.5,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,59,0,"FRG2C",1,1000,"非编码区",14300,"0.2538=101/398","位于基因组多拷贝区域+DNA结构正常",100288801,"3p12.3","NM_001124759"]
["32630A(747)v12234",2,2,1,"32630A","FRG2C","chr3:75715751","c.*559C>T(exon4)","非编码区","rs76985701",{"$nulls":4},0.39,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,59,0,"FRG2C",1,1000,"非编码区",14300,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",100288801,"3p12.3","NM_001124759"]
["32630A(747)v12269",173,99,0.5723,"32630A","FRMPD1","chr9:37731007","c.765C>T(exon9)","p.D255D","rs2274324",0.088,0.2,0.19,0.22,0.19,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FRMPD1",1,93,"同义",13203,"0.5430=101/186","位于基因组单拷贝区域+DNA结构正常",22844,"9p13.2","NM_014907"]
["32630A(747)v12309",27,19,0.7037,"32630A","FSCN2","chr17:79496190","c.633G>A(exon1)","p.T211T","rs75815349",0.011,0.031,0.014,0.049,0.063,0.12,"杂合","未知","预测范围之外的同义突变",null,"视网膜色素变性30型-AD",null,607921,4,2,3,1,"FSCN2",1,33,"同义",13103,"0.6667=20/30","位于基因组单拷贝区域+DNA结构正常",25794,"17q25","NM_001077182"]
["32630A(747)v12363",25,17,0.68,"32630A","FUK","chr16:70508709","c.2172G>T(exon18)","p.T724T","rs201537584",{"$nulls":4},0.00069,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"FUK",1,56,"同义",13303,"0.6538=17/26","位于基因组单拷贝区域+DNA结构正常",197258,"16q22.1","NM_145059"]
["32630A(747)v12416",34,22,0.6471,"32630A","FYCO1","chr3:46009487","c.1339C>T(exon8)","p.R447C","rs33910087",0.11,0,0,0,0.0051,0.003,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传先天性白内障2型","AR",610019,5,3,12,1,"FYCO1",1,110,"非同义",12210,"0.6667=24/36","位于基因组单拷贝区域+DNA结构正常",79443,"3p21.31","NM_024513"]
["32630A(747)v12431",33,33,1,"32630A","FZD5","chr2:208633413","c.51A>G(exon2)","p.L17L","rs4675711",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"FZD5",1,52,"同义",13203,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",7855,"2q33.3","NM_003468"]
["32630A(747)v12485",81,43,0.5309,"32630A","GABRD","chr1:1956362","c.69-19G>A(exon2)","非编码区","rs2376805",0.78,0.76,0.8,0.73,0.72,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20561060,"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",613060,5,1,5,1,"GABRD",0.95,50,"非编码区",16201,"0.5444=49/90","位于基因组单拷贝区域+DNA结构正常",2563,"1p36.3","NM_000815"]
["32630A(747)v12500",106,47,0.4434,"32630A","GAD1","chr2:171678625","c.111T>C(exon3)","p.H37H","rs769404",0.36,0.52,0.5,0.53,0.45,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25252306,"脑性瘫痪,痉挛性四肢瘫1型","AR",603513,5,3,1,1,"GAD1",1,160,"同义",13203,"0.4390=54/123","位于基因组单拷贝区域+DNA结构正常",2571,"2q31","NM_000817"]
["32630A(747)v12541",5,2,0.4,"32630A","GALM","chr2:38960967","c.*260G>A(exon7)","非编码区","rs3112178",0.17,0.13,0.12,0.13,0.13,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GALM",1,120,"非编码区",14200,"0.4000=2/5","位于基因组单拷贝区域+DNA结构正常",130589,"2p22.1","NM_138801"]
["32630A(747)v12615",51,30,0.5882,"32630A","GAS8","chr16:90109756-90109757","c.*3(exon11)_c.*4(exon11)insC","非编码区","rs3833069",0.49,0.66,0.65,0.67,0.59,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GAS8",1,150,"非编码区",2420,"0.5345=31/58","位于基因组单拷贝区域+简单重复结构",2622,"16q24.3","NM_001481"]
["32630A(747)v12626",26,12,0.4615,"32630A","GATA6","chr18:19780863","c.*77A>G(exon7)","非编码区","rs1941083",0.14,0.21,0.22,0.2,0.16,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18603647,"心脏圆锥动脉干畸形","AR",217095,5,3,2,5,"GATA6",1,57,"非编码区",14200,"0.4643=13/28","位于基因组单拷贝区域+DNA结构正常",2627,"18q11.1-q11.2","NM_005257"]
["32630A(747)v12666",82,35,0.4268,"32630A","GBP4","chr1:89652072","c.1651G>A(exon10)","p.E551K","rs561037",0.36,0.42,0.43,0.4,0.43,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"GBP4",1,180,"非同义",12220,"0.4222=38/90","位于基因组单拷贝区域+DNA结构正常",115361,"1p22.2","NM_052941"]
["32630A(747)v12710",35,18,0.5143,"32630A","GCK","chr7:44185088","c.1253+8C>T(exon9)","非编码区","rs2908274",0.41,0.45,0.49,0.41,0.42,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,1,4,"GCK",1,65,"非编码区",16203,"0.5143=18/35","位于基因组单拷贝区域+DNA结构正常",2645,"7p15.3-p15.1","NM_000162",null,"rs2908274|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v12735",138,65,0.471,"32630A","GC","chr4:72618323","c.1307C>A(exon11)","p.T436K","rs4588",0.21,0.31,0.32,0.3,0.3,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","1352271;8370586;15726497;17054776;17244366",{"$nulls":3},5,null,4,0,"GC",0.99,180,"非同义",12220,"0.4740=73/154","位于基因组单拷贝区域+DNA结构正常",2638,"4q12-q13","NM_000583","THR436LYS|\"Vitamin_D_affinity_association_with\"|8370586;rs4588|\"Vitamin_D_affinity_association_with\"|8370586","THR436LYS|Benign|NA|OMIM:139200.0001|no assertion criteria provided|PubMed:1352271;rs4588|Benign|NA|OMIM:139200.0001|no assertion criteria provided|PubMed:1352271"]
["32630A(747)v12769",39,39,1,"32630A","GDPD5","chr11:75160575","c.555C>T(exon8)","p.R185R","rs518611",0.53,0.84,0.84,0.84,0.79,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GDPD5",1,66,"同义",13203,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",81544,"11q13.4-q13.5","NM_030792"]
["32630A(747)v12809",11,8,0.7273,"32630A","GFRA1","chr10:117823739","c.*170T>C(exon11)","非编码区","rs1078080",0.53,0.57,0.55,0.6,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GFRA1",1,110,"非编码区",14200,"0.7273=8/11","位于基因组单拷贝区域+DNA结构正常",2674,"10q26.11","NM_005264"]
["32630A(747)v12837",91,46,0.5055,"32630A","GGCX","chr2:85780131","c.1218C>T(exon9)","p.R406R","rs2592551",0.29,0.31,0.32,0.3,0.35,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤样障碍伴多凝血因子缺陷",null,610842,5,2,3,2,"GGCX",1,130,"同义",13203,"0.5463=59/108","位于基因组单拷贝区域+DNA结构正常",2677,"2p12","NM_000821"]
["32630A(747)v12863",58,31,0.5345,"32630A","GGT1","chr22:25011106","c.382+12G>T(exon7)","非编码区","rs183193539",{"$nulls":4},0.28,0.00024,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,24,0,"GGT1",1,140,"非编码区",16303,"0.5152=34/66","位于基因组多拷贝区域+DNA结构正常",2678,"22q11.23","NM_005265"]
["32630A(747)v12902",3,3,1,"32630A","GID4","chr17:17942613","c.-166C>T(exon1)","非编码区","rs7406982",0.59,0.89,0.9,0.88,0.83,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GID4",1,69,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",79018,"17p11.2","NM_024052"]
["32630A(747)v12949",86,42,0.4884,"32630A","GJB2","chr13:20763380","c.341A>G(exon2)","p.E114G","rs2274083",0.031,0.23,0.2,0.25,0.25,0.19,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","9529365;10983956;19719946;11494963;15790391","残毁性掌跖角皮病","AD",124500,3,1,3,7,"GJB2",1,86,"非同义",12120,"0.5000=50/100","位于基因组单拷贝区域+DNA结构正常",2706,"13q11-q12","NM_004004","GLU114GLY|\"Deafness\"|10983956","GLU114GLY|Benign;Likely benign;Uncertain significance|NA|NA|criteria provided, conflicting interpretations|PubMed:9529365"]
["32630A(747)v12955",39,23,0.5897,"32630A","GJD2","chr15:35045276","c.369C>T(exon2)","p.S123S","rs35174018",0.062,0.091,0.1,0.083,0.12,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GJD2",1,75,"同义",13203,"0.6279=27/43","位于基因组单拷贝区域+DNA结构正常",57369,"15q14","NM_020660"]
["32630A(747)v12980",60,60,1,"32630A","GLCE","chr15:69561518","c.1789G>A(exon5)","p.V597I","rs3865014",0.67,0.75,0.79,0.72,0.73,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21488854,{"$nulls":3},5,null,2,0,"GLCE",1,140,"非同义",12220,"1.0000=73/73","位于基因组单拷贝区域+DNA结构正常",26035,"15q23","NM_015554"]
["32630A(747)v13003",86,86,1,"32630A","GLIPR1L2","chr12:75785100","c.204C>T(exon1)","p.V68V","rs11180483",0.32,0.45,0.44,0.47,0.46,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GLIPR1L2",0.85,160,"同义",13203,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",144321,"12q21.2","NM_001270396"]
["32630A(747)v13060",18,8,0.4444,"32630A","GLTP","chr12:110318261","c.-82C>G(exon1)","非编码区","rs71458309",0.24,0.16,0.14,0.17,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GLTP",1,87,"非编码区",14200,"0.4286=9/21","位于基因组多拷贝区域+DNA结构正常",51228,"12q24.11","NM_016433"]
["32630A(747)v13094",50,50,1,"32630A","GMEB2","chr20:62223371","c.952+4T>C(exon9)","非编码区","rs311494",0.94,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GMEB2",1,47,"非编码区",16202,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",26205,"20q13.33","NM_012384"]
["32630A(747)v13129",9,9,1,"32630A","GNAS","chr20:57415110","c.-52A>G(exon1)","非编码区","rs1800900",0.6,0.81,0.79,0.84,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19401628;20403199","生长激素型垂体腺瘤","AD",102200,5,1,2,8,"GNAS",1,72,"非编码区",14200,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",2778,"20q13.3","NM_016592"]
["32630A(747)v13169",143,143,1,"32630A","GNS","chr12:65146532","c.198G>A(exon2)","p.P66P","rs1147096",{"$nulls":4},0.86,0.88,"纯合","未知","预测范围之外的同义突变",23757202,"粘多糖贮积症IIID型/Sanfilippo综合征D型","AR",252940,4,1,1,1,"GNS",1,160,"同义",13303,"1.0000=165/165","位于基因组单拷贝区域+DNA结构正常",2799,"12q14","NM_002076",null,"rs1147096|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v13187",99,47,0.4747,"32630A","GOLGA5","chr14:93263982","c.200C>G(exon2)","p.A67G","rs17128572",0.12,0.11,0.13,0.092,0.14,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17000706,"乳头状甲状腺癌","AD",188550,5,1,5,1,"GOLGA5",1,140,"非同义",12220,"0.4766=51/107","位于基因组多拷贝区域+DNA结构正常",9950,"14q32.12","NM_005113","ALA67GLY|\"Colorectal_cancer_increased_risk_association_with\"|17000706"]
["32630A(747)v13267",54,30,0.5556,"32630A","GOT2","chr16:58750604","c.816C>T(exon7)","p.C272C","rs1058192",0.72,0.65,0.65,0.65,0.66,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"GOT2",1,110,"同义",13203,"0.5345=31/58","位于基因组单拷贝区域+DNA结构正常",2806,"16q21","NM_002080"]
["32630A(747)v13291",100,100,1,"32630A","GPAM","chr10:113913222","c.*86A>G(exon22)","非编码区","rs2297991",0.73,0.69,0.74,0.65,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,5,0,"GPAM",1,180,"非编码区",14200,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",57678,"10q25.2","NM_001244949"]
["32630A(747)v13315",84,84,1,"32630A","GPC1","chr2:241404317","c.1059C>T(exon6)","p.P353P","rs2229458",0.52,0.33,0.32,0.35,0.3,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GPC1",1,56,"同义",13203,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",2817,"2q35-q37","NM_002081"]
["32630A(747)v13366",76,76,1,"32630A","GPR112","chrX:135496398","c.9117G>A(exon25)","p.T3039T","rs5930942",null,0.91,0.95,0.87,0.86,0.91,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"GPR112",1,72,"同义",13303,"1.0000=79/79","位于基因组单拷贝区域+DNA结构正常",139378,"Xq26.3","NM_153834"]
["32630A(747)v13422",18,18,1,"32630A","GPR144","chr9:127230891","c.2248G>A(exon14)","p.V750M","rs10760365",0.52,0.62,0.59,0.66,0.65,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"GPR144",0.99,45,"非同义",12210,"1.0000=18/18","位于基因组单拷贝区域+DNA结构正常",347088,"9q33.3","NM_001161808"]
["32630A(747)v13443",19,13,0.6842,"32630A","GPR161","chr1:168074145","c.17-13C>T(exon3)","非编码区","rs6427119",0.29,0.18,0.17,0.19,0.2,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GPR161",0.91,82,"非编码区",16202,"0.6500=13/20","位于基因组单拷贝区域+DNA结构正常",23432,"1q24.2","NM_001267609"]
["32630A(747)v13491",12,8,0.6667,"32630A","GPR68","chr14:91700165","c.*132T>A(exon2)","非编码区","rs76213313",0.033,0.07,0.081,0.058,0.051,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"GPR68",1,51,"非编码区",14100,"0.7143=10/14","位于基因组单拷贝区域+DNA结构正常",8111,"14q31","NM_001177676"]
["32630A(747)v13521",136,135,0.9926,"32630A","GPR98","chr5:90052372","c.11682C>T(exon56)","p.P3894P","rs2438349",0.54,0.5,0.5,0.5,0.5,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性热性惊厥4型","AD",604352,5,1,19,2,"GPR98",1,190,"同义",13203,"0.9936=156/157","位于基因组单拷贝区域+DNA结构正常",84059,"5q13","NM_032119",null,"rs2438349|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v13547",39,24,0.6154,"32630A","GPRIN2","chr10:46999198","c.318G>T(exon3)","p.L106L","rs3127680",{"$nulls":4},0.33,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,31,0,"GPRIN2",1,61,"同义",13303,"0.5581=24/43","位于基因组单拷贝区域+DNA结构正常",9721,"10q11.22","NM_014696"]
["32630A(747)v13577",76,33,0.4342,"32630A","GPS2","chr17:7216143","c.916A>G(exon11)","p.T306A","rs2292065",0.0036,0.0048,0,0.0097,0.012,0.021,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"GPS2",1,78,"非同义",12120,"0.4091=36/88","位于基因组单拷贝区域+DNA结构正常",2874,"17p13","NM_004489"]
["32630A(747)v13622",164,164,1,"32630A","GREB1L","chr18:19100758-19100759","c.5582(exon32)_c.5583(exon32)insTCT","p.D1861delinsDL","rs34960489",1,1,1,1,0.51,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GREB1L",1,140,"非移码",2223,"1.0000=184/184","位于基因组单拷贝区域+DNA结构正常",80000,"18q11.2","NM_001142966"]
["32630A(747)v13669",100,48,0.48,"32630A","GRIP1","chr12:66814487","c.1682+13G>T(exon14)","非编码区","rs7397862",0.42,0.33,0.33,0.33,0.36,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Fraser综合征","AR",219000,5,3,4,1,"GRIP1",1,160,"非编码区",16203,"0.4912=56/114","位于基因组单拷贝区域+DNA结构正常",23426,"12q14.3","NM_021150"]
["32630A(747)v13687",33,13,0.3939,"32630A","GRK7","chr3:141497168","c.42C>T(exon1)","p.T14T","rs55712018",0.031,0.065,0.071,0.058,0.069,0.09,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"GRK7",1,110,"同义",13103,"0.3684=14/38","位于基因组单拷贝区域+DNA结构正常",131890,"3q24","NM_139209"]
["32630A(747)v13748",3,3,1,"32630A","GSPT1","chr16:12009781","c.-204C>T(exon1)","非编码区","rs434762",0.85,0.97,0.97,0.97,null,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"GSPT1",1,180,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",2935,"16p13.1","NM_001130006"]
["32630A(747)v13797",4,2,0.5,"32630A","GTF2H4","chr6:30877202","c.138-10T>C(exon3)","非编码区","rs916920",0.41,0.53,0.54,0.51,0.52,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GTF2H4",0.77,19,"非编码区",16202,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",2968,"6p21.3","NM_001517"]
["32630A(747)v13822",7,7,1,"32630A","GTPBP4","chr10:1063447","c.*280A>G(exon17)","非编码区","rs2387219",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GTPBP4",1,170,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",23560,"10p15-p14","NM_012341"]
["32630A(747)v13847",54,54,1,"32630A","GUCY2F","chrX:108718687","c.479T>A(exon2)","p.I160N","rs33971675",null,0.057,0.057,0.056,0.053,0.06,"半合子","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"GUCY2F",1,83,"非同义",12320,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",2986,"Xq22","NM_001522"]
["32630A(747)v13885",57,56,0.9825,"32630A","GZMB","chr14:25101629","c.240A>G(exon3)","p.K80K","rs10909625",0.3,0.27,0.27,0.28,0.28,0.25,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18311812,{"$nulls":3},5,null,7,0,"GZMB",1,95,"同义",13203,"0.9863=72/73","位于基因组多拷贝区域+DNA结构正常",3002,"14q11.2","NM_004131"]
["32630A(747)v13942",27,14,0.5185,"32630A","HAS1","chr19:52222552","c.609C>T(exon2)","p.R203R","rs11084112",0.36,0.19,0.18,0.21,0.2,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"HAS1",1,39,"同义",13203,"0.5806=18/31","位于基因组单拷贝区域+DNA结构正常",3036,"19q13.4","NM_001523"]
["32630A(747)v13982",40,40,1,"32630A","HCAR3","chr12:123200099","c.*22A>G(exon1)","非编码区","rs579194",0.46,0.55,0.48,0.61,0.63,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"HCAR3",1,93,"非编码区",14200,"1.0000=44/44","位于基因组多拷贝区域+DNA结构正常",8843,"12q24.31","NM_006018"]
["32630A(747)v14021",33,17,0.5152,"32630A","HDAC10","chr22:50687328","c.757-9G>T(exon9)","非编码区","rs76646287",0.038,0.072,0.062,0.083,0.081,0.091,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,9,0,"HDAC10",1,47,"非编码区",16102,"0.5676=21/37","位于基因组单拷贝区域+DNA结构正常",83933,"22q13.31","NM_032019"]
["32630A(747)v14054",24,14,0.5833,"32630A","HEATR2","chr7:796431","c.1270G>A(exon6)","p.A424T","rs141828030",1.4E-3,0.0096,0.014,0.0049,8.6E-3,0.0058,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"原发性纤毛运动障碍18型","AR",614874,2,3,6,1,"HEATR2",0.91,54,"非同义",12110,"0.6207=18/29","位于基因组单拷贝区域+DNA结构正常",54919,"7p22.3","NM_017802"]
["32630A(747)v14111",103,103,1,"32630A","HECW2","chr2:197065964","c.*37G>T(exon29)","非编码区","rs3820908",0.72,0.82,0.83,0.81,0.84,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"HECW2",1,140,"非编码区",14200,"1.0000=125/125","位于基因组单拷贝区域+DNA结构正常",57520,"2q32.3","NM_020760"]
["32630A(747)v14148",25,25,1,"32630A","HELZ2","chr20:62196884","c.3291T>C(exon9)","p.T1097T","rs310633",0.97,1,1,1,0.72,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"HELZ2",1,30,"同义",13203,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_001037335"]
["32630A(747)v14180",2,2,1,"32630A","HERC2","chr15:28475625","c.4697C>T(exon31)","p.T1566M","rs201872292",0.16,0.28,0.28,0.29,0.21,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"皮肤/头发/眼睛色素沉着1型","AR",227220,5,1,10,2,"HERC2",0.99,140,"非同义",12220,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",8924,"15q13","NM_004667"]
["32630A(747)v14197",4,4,1,"32630A","HES3","chr1:6305303","c.297C>A(exon4)","p.A99A","rs61760837",0.56,0.53,0.54,0.51,0.6,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"HES3",1,34,"同义",13203,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",390992,"1p36.31","NM_001024598"]
["32630A(747)v14244",29,29,1,"32630A","HHAT","chr1:210761462","c.1245+19G>C(exon10)","非编码区","rs4297293",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"HHAT",1,100,"非编码区",16203,"1.0000=32/32","位于基因组单拷贝区域+DNA结构正常",55733,"1q32","NM_018194"]
["32630A(747)v14290",33,33,1,"32630A","HIP1R","chr12:123341289","c.1620+16A>C(exon17)","非编码区","rs897386",0.74,0.72,0.78,0.67,0.66,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"HIP1R",1,59,"非编码区",16203,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",9026,"12q24","NM_003959"]
["32630A(747)v14319",179,101,0.5642,"32630A","HIST1H2BH","chr6:26252190","c.312T>G(exon1)","p.P104P","rs201943873",0.0006,0.0024,0.0048,0,0.00052,0.00046,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"HIST1H2BH",1,280,"同义",13103,"0.5275=115/218","位于基因组多拷贝区域+DNA结构正常",8345,"6p21.3","NM_003524"]
["32630A(747)v14347",38,38,1,"32630A","HIVEP3","chr1:42046812","c.3657G>A(exon4)","p.Q1219Q","rs2810565",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"HIVEP3",1,59,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",59269,"1p34","NM_024503"]
["32630A(747)v14386",53,19,0.3585,"32630A","HMCN1","chr1:186092076","c.12230-7A>C(exon81)","非编码区","rs2057388",0.6,0.61,0.58,0.64,0.64,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"年龄相关性黄斑变性1型",null,603075,5,2,9,1,"HMCN1",1,210,"非编码区",16202,"0.3279=20/61","位于基因组单拷贝区域+DNA结构正常",83872,"1q25.3-q31.1","NM_031935"]
["32630A(747)v14427",26,12,0.4615,"32630A","HNF1A","chr12:121435427","c.1460G>A(exon7)","p.S487N","rs2464196",0.32,0.47,0.48,0.47,0.48,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24728327;20031592;18439548;18439552;18940312","胰岛素依赖型糖尿病20型",null,612520,5,2,7,6,"HNF1A",1,70,"非同义",12220,"0.4545=15/33","位于基因组单拷贝区域+DNA结构正常",6927,"12q24.2","NM_000545","SER487ASN|\"Cadiovascular_disease_increased_risk_association_with\"|20031592","SER487ASN|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24728327"]
["32630A(747)v14433",90,90,1,"32630A","HNF1B","chr17:36047275","c.*100G>A(exon9)","非编码区","rs1800929",0.78,0.82,0.81,0.83,0.84,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,3,3,"HNF1B",1,97,"非编码区",14200,"1.0000=100/100","位于基因组单拷贝区域+DNA结构正常",6928,"17q12","NM_000458"]
["32630A(747)v14481",22,15,0.6818,"32630A","HOXA9","chr7:27203139","c.*83C>T(exon2)","非编码区","rs7810502",0.63,0.62,0.58,0.67,0.62,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"HOXA9",1,60,"非编码区",14200,"0.6800=17/25","位于基因组单拷贝区域+DNA结构正常",3205,"7p15.2","NM_152739"]
["32630A(747)v14528",10,10,1,"32630A","HPS4","chr22:26879823","c.-662G>T(exon1)","非编码区","rs968425",0.79,0.79,0.83,0.76,0.87,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Hermansky-Pudlak综合征4型","AR",614073,5,1,8,1,"HPS4",1,100,"非编码区",14200,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",89781,"22cen-q12.3","NM_022081"]
["32630A(747)v14551",409,133,0.3252,"32630A","HRNR","chr1:152186766","c.7339C>T(exon3)","p.R2447C","rs4845747",{"$nulls":4},0.3,0.31,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,31,0,"HRNR",1,780,"非同义",12320,"0.3550=180/507","位于基因组多拷贝区域+DNA结构正常",388697,"1q21.3","NM_001009931"]
["32630A(747)v14614",251,139,0.5538,"32630A","HSD17B11","chr4:88293887","c.531C>T(exon4)","p.V177V","rs6531985",0.29,0.0072,0.0048,0.0097,0.01,0.0036,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"HSD17B11",1,200,"同义",13203,"0.5233=146/279","位于基因组单拷贝区域+DNA结构正常",51170,"4q22.1","NM_016245"]
["32630A(747)v14652",107,57,0.5327,"32630A","HSPA1A","chr6:31783507","c.-27G>C(exon1)","非编码区","rs1043618",0.48,0.25,0.2,0.3,0.35,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14605873;17009596;18299791;18813331;19333379",{"$nulls":3},5,null,2,0,"HSPA1A",0.97,23,"非编码区",14200,"0.5303=70/132","位于基因组多拷贝区域+DNA结构正常",3303,"6p21.3","NM_005345","rs1043618|\"Parkinson_disease_association_with\"|14605873"]
["32630A(747)v14671",91,35,0.3846,"32630A","HSPB7","chr1:16344360","c.99T>C(exon1)","p.A33A","rs732286",0.65,0.76,0.78,0.74,0.72,0.74,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18843385,{"$nulls":3},5,null,7,0,"HSPB7",1,65,"同义",13203,"0.3939=39/99","位于基因组单拷贝区域+DNA结构正常",27129,"1p36.23-p34.3","NM_014424"]
["32630A(747)v14706",87,87,1,"32630A","HTR2A","chr13:47470824","c.145G>A(exon1)","p.D49N","rs6312",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18330705,"酒精依赖症",null,103780,5,1,2,5,"HTR2A",1,120,"非同义",12220,"1.0000=98/98","位于基因组单拷贝区域+DNA结构正常",3356,"13q14-q21","NM_001165947"]
["32630A(747)v14717",50,50,1,"32630A","HTR3D","chr3:183756780","c.*17A>C(exon8)","非编码区","rs6765152",0.78,0.9,0.92,0.87,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"HTR3D",1,98,"非编码区",14200,"1.0000=53/53","位于基因组多拷贝区域+DNA结构正常",200909,"3q27.1","NM_001163646"]
["32630A(747)v14769",204,105,0.5147,"32630A","HYDIN","chr16:70896118","c.11610T>C(exon69)","p.H3870H","rs1774421",{"$nulls":4},0.5,null,"杂合","未知","预测范围之外的同义突变",null,"原发性纤毛运动障碍5型","AR",608647,4,3,80,1,"HYDIN",1,300,"同义",13303,"0.5153=118/229","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974"]
["32630A(747)v14832",87,45,0.5172,"32630A","HYDIN","chr16:71122408","c.1466G>A(exon12)","p.G489D","rs62040318",{"$nulls":4},0.41,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"原发性纤毛运动障碍5型","AR",608647,2,3,80,1,"HYDIN",1,300,"非同义",12310,"0.5053=48/95","位于基因组多拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974"]
["32630A(747)v14871",3,3,1,"32630A","IDO2","chr8:39873484-39873485","c.*363(exon11)_c.*364(exon11)insAAA","非编码区",{"$nulls":7},"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,10,0,"IDO2",1,140,"非编码区",2440,"1.0000=3/3","位于基因组单拷贝区域+简单重复结构",169355,"8p11.21","NM_194294"]
["32630A(747)v14907",2,2,1,"32630A","IFIT5","chr10:91178804","c.*399T>C(exon2)","非编码区","rs304447",0.32,0.45,0.49,0.41,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"IFIT5",1,150,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",24138,"10q23.31","NM_012420"]
["32630A(747)v14928",169,168,0.9941,"32630A","IFNA10","chr9:21207037","c.60T>A(exon1)","p.C20X,170","rs10119910",{"$nulls":4},0.5,0.5,"纯合","较高","无义突变可能会导致蛋白翻译提前终止",15004750,{"$nulls":3},1,null,6,0,"IFNA10",1,340,"截断",15300,"0.9897=192/194","位于基因组多拷贝区域+DNA结构正常",3446,"9p22","NM_002171","CYS20STOP|\"Sarcoidosis_increased_risk_association_with\"|15004750"]
["32630A(747)v14962",88,43,0.4886,"32630A","IFT140","chr16:1657284","c.-17G>C(exon3)","非编码区","rs1894649",0.51,0.58,0.58,0.57,0.54,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"MAINZER-SALDINO综合征","AR",266920,5,3,2,1,"IFT140",1,55,"非编码区",14200,"0.4945=45/91","位于基因组单拷贝区域+DNA结构正常",9742,"16p13.3","NM_014714"]
["32630A(747)v15010",54,54,1,"32630A","IGFN1","chr1:201181223","c.7202A>G(exon12)","p.N2401S","rs12070919",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"IGFN1",1,210,"非同义",12220,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",91156,"1q32.1","NM_001164586"]
["32630A(747)v15031",92,38,0.413,"32630A","IGSF11","chr3:118645118","c.422-15T>C(exon6)","非编码区","rs9848979",0.39,0.25,0.27,0.23,0.24,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"IGSF11",1,160,"非编码区",16202,"0.4000=40/100","位于基因组单拷贝区域+DNA结构正常",152404,"3q13.32","NM_152538"]
["32630A(747)v15091",62,36,0.5806,"32630A","IKBIP","chr12:99007356","c.*7A>G(exon3)","非编码区","rs1048908",0.41,0.34,0.31,0.37,0.33,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"IKBIP",1,91,"非编码区",14200,"0.5556=40/72","位于基因组单拷贝区域+DNA结构正常",121457,"12q23.1","NM_201612"]
["32630A(747)v15129",73,40,0.5479,"32630A","IL15RA","chr10:6008172","c.111G>A(exon2)","p.T37T","rs2296139",0.18,0.3,0.3,0.3,0.36,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19468064;21689944",{"$nulls":3},5,null,2,0,"IL15RA",0.75,64,"同义",13203,"0.5316=42/79","位于基因组单拷贝区域+DNA结构正常",3601,"10p15.1","NM_001243539"]
["32630A(747)v15159",9,9,1,"32630A","IL18RAP","chr2:103068787","c.*146G>A(exon12)","非编码区","rs7559479",0.69,0.55,0.59,0.51,0.48,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"IL18RAP",1,160,"非编码区",14200,"1.0000=11/11","位于基因组单拷贝区域+DNA结构正常",8807,"2q12","NM_003853"]
["32630A(747)v15182",71,26,0.3662,"32630A","IL1RN","chr2:113875584","c.-231G>C(exon1)","非编码区","rs2234679",0.19,0.091,0.095,0.087,0.097,0.092,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17176440,"遗传性弥漫性胃癌","AD",137215,5,1,7,3,"IL1RN",1,85,"非编码区",14200,"0.3924=31/79","位于基因组单拷贝区域+DNA结构正常",3557,"2q14.2","NM_173843"]
["32630A(747)v15215",19,19,1,"32630A","IL32","chr16:3115628","c.-89A>C(exon2)","非编码区","rs1554999",null,0.95,0.97,0.92,0.92,null,"纯合","未知","UTR突变可能影响蛋白翻译",19468064,{"$nulls":3},3,null,1,0,"IL32",1,82,"非编码区",14300,"1.0000=19/19","位于基因组单拷贝区域+DNA结构正常",9235,"16p13.3","NM_001012631"]
["32630A(747)v15259",187,95,0.508,"32630A","IMPACT","chr18:22020543","c.451C>G(exon6)","p.L151V","rs677688",0.87,0.63,0.63,0.64,0.7,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18454203,{"$nulls":3},5,null,1,0,"IMPACT",1,290,"非同义",12230,"0.5381=113/210","位于基因组单拷贝区域+DNA结构正常",55364,"18q11.2-q12.1","NM_018439"]
["32630A(747)v15278",247,105,0.4251,"32630A","INADL","chr1:62516683","c.4078G>C(exon31)","p.V1360L","rs2498982",0.57,0.26,0.27,0.25,0.29,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"INADL",1,200,"非同义",12220,"0.4078=115/282","位于基因组单拷贝区域+DNA结构正常",10207,"1p31.3","NM_176877"]
["32630A(747)v15344",28,12,0.4286,"32630A","INSL3","chr19:17932289","c.27G>A(exon1)","p.A9A","rs2286663",0.12,0.2,0.19,0.2,0.18,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"单侧或双侧隐睾","AR",219050,5,3,2,1,"INSL3",0.81,40,"同义",13203,"0.4000=12/30","位于基因组单拷贝区域+DNA结构正常",3640,"19p13.2-p12","NM_001265587"]
["32630A(747)v15373",99,99,1,"32630A","INTS2","chr17:59955426","c.2302A>C(exon18)","p.N768H","rs606072",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"INTS2",1,180,"非同义",12230,"1.0000=111/111","位于基因组单拷贝区域+DNA结构正常",57508,"17q23.2","NM_020748"]
["32630A(747)v15388",114,54,0.4737,"32630A","IPMK","chr10:59956041","c.1047G>A(exon6)","p.M349I","rs2275443",0.11,0.25,0.25,0.25,0.32,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"IPMK",1,150,"非同义",12220,"0.4754=58/122","位于基因组多拷贝区域+DNA结构正常",253430,"10q21.1","NM_152230"]
["32630A(747)v15462",18,11,0.6111,"32630A","IQSEC3","chr12:248202","c.1673C>G(exon4)","p.A558G","rs56204927",0.66,0.72,0.72,0.71,0.67,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"IQSEC3",1,57,"非同义",12220,"0.6111=11/18","位于基因组单拷贝区域+DNA结构正常",440073,"12p13.33","NM_001170738"]
["32630A(747)v15498",82,82,1,"32630A","IRGM","chr5:150227998","c.313C>T(exon2)","p.L105L","rs10065172",0.3,0.47,0.51,0.43,0.43,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21278745;17554261;18985712;19165925;19683022","炎性肠病19型/克罗恩病",null,612278,5,1,2,2,"IRGM",1,82,"同义",11200,"1.0000=89/89","位于基因组单拷贝区域+DNA结构正常",345611,"5q33.1","NM_001145805","rs10065172|\"Crohn's_disease_susceptibility_to_association\"|17554261","rs10065172|risk factor|OMIM:612278|OMIM:608212.0001|no assertion criteria provided|PubMed:21278745","LEU105LEU|none|608212.0001.3"]
["32630A(747)v15512",13,6,0.4615,"32630A","IRX5","chr16:54967096","c.763C>A(exon3)","p.P255T","rs13336114",0.36,0.57,0.55,0.59,0.63,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"HAMAMY 综合征（面部特征、心脏、骨骼、血液、和生殖细胞畸形）","AR",611174,5,3,1,1,"IRX5",1,53,"非同义",12220,"0.4286=6/14","位于基因组单拷贝区域+DNA结构正常",10265,"16q12.2","NM_005853"]
["32630A(747)v15565",67,67,1,"32630A","ITGA11","chr15:68624396","c.1571T>G(exon14)","p.L524R","rs7168069",0.9,0.92,0.89,0.95,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17708757,{"$nulls":3},5,null,8,0,"ITGA11",1,88,"非同义",12220,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",22801,"15q23","NM_001004439"]
["32630A(747)v15601",80,80,1,"32630A","ITGA8","chr10:15729923","c.444+14G>A(exon3)","非编码区","rs1954181",0.76,0.81,0.79,0.82,null,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肾发育不良","AR",191830,5,1,3,1,"ITGA8",1,180,"非编码区",16203,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",8516,"10p13","NM_003638"]
["32630A(747)v15635",40,18,0.45,"32630A","ITGB2","chr21:46308630","c.2058C>G(exon14)","p.L686L","rs117884186",0.0034,0.0048,0.0048,0.0049,0.018,0.015,"杂合","未知","预测范围之外的同义突变",null,"白细胞黏附分子缺陷I型","AR",116920,4,3,7,1,"ITGB2",1,59,"同义",13103,"0.4390=18/41","位于基因组单拷贝区域+DNA结构正常",3689,"21q22.3","NM_000211"]
["32630A(747)v15646",69,67,0.971,"32630A","ITGB4","chr17:73750859","c.4521C>G(exon34)","p.P1507P","rs8669",0.38,0.53,0.57,0.5,0.47,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23617461,"大疱性表皮松解与幽门闭锁","AR",226730,5,1,5,3,"ITGB4",1,61,"同义",13203,"0.9726=71/73","位于基因组单拷贝区域+DNA结构正常",3691,"17q25","NM_000213"]
["32630A(747)v15692",78,31,0.3974,"32630A","ITPA","chr20:3193978","c.138G>A(exon3)","p.Q46Q","rs8362",0.47,0.58,0.62,0.54,0.52,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"次黄苷三磷酸酶(肌苷三磷酸酶)缺陷",null,613850,5,2,3,1,"ITPA",1,77,"同义",13203,"0.3820=34/89","位于基因组单拷贝区域+DNA结构正常",3704,"20p","NM_033453"]
["32630A(747)v15739",91,91,1,"32630A","ITSN2","chr2:24524958","c.871G>A(exon10)","p.V291I","rs7603997",0.29,0.23,0.2,0.26,0.25,0.22,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ITSN2",1,170,"非同义",12220,"1.0000=104/104","位于基因组单拷贝区域+DNA结构正常",50618,"2pter-p25.1","NM_006277"]
["32630A(747)v15757",54,54,1,"32630A","JAG1","chr20:10633237","c.765C>T(exon6)","p.Y255Y","rs1131695",0.42,0.34,0.36,0.31,0.26,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",14676605,"法氏四联症","AD",187500,5,1,4,2,"JAG1",1,120,"同义",13203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",182,"20p12.1-p11.23","NM_000214","rs1131695|\"Alagille_syndrome\"|14676605","rs1131695|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v15795",62,34,0.5484,"32630A","JDP2","chr14:75904660","c.37A>G(exon2)","p.T13A","rs3625",0.61,0.7,0.67,0.73,0.62,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"JDP2",1,100,"非同义",12220,"0.5000=34/68","位于基因组单拷贝区域+DNA结构正常",122953,"14q24.3","NM_130469"]
["32630A(747)v15836",80,80,1,"32630A","KALRN","chr3:124351316","c.5226G>A(exon35)","p.V1742V","rs1708303",0.71,0.91,0.9,0.92,0.86,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"冠状动脉心脏病易感5型",null,608901,5,1,14,1,"KALRN",1,120,"同义",13203,"1.0000=90/90","位于基因组单拷贝区域+DNA结构正常",8997,"3q21.2","NM_001024660"]
["32630A(747)v15868",139,139,1,"32630A","KANSL1","chr17:44144993","c.1574G>C(exon5)","p.R525P","rs144838667",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"KOOLEN综合征","AD",610443,5,1,3,1,"KANSL1",1,83,"非同义",12230,"1.0000=157/157","位于基因组单拷贝区域+DNA结构正常",284058,"17q21.31","NM_001193466"]
["32630A(747)v15936",39,39,1,"32630A","KCNE4","chr2:223917983","c.435T>G(exon2)","p.D145E","rs12621643",0.67,0.69,0.71,0.66,0.69,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17016049;19684603;24705329",{"$nulls":3},5,null,4,0,"KCNE4",1,34,"非同义",12220,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",23704,"2q36.1","NM_080671","rs12621643|\"Atrial_fibrillation_association_with\"|17016049"]
["32630A(747)v15941",24,11,0.4583,"32630A","KCNG1","chr20:49621149","c.969A>G(exon3)","p.A323A","rs6122993",0.65,0.64,0.66,0.63,0.45,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KCNG1",1,43,"同义",13203,"0.4643=13/28","位于基因组单拷贝区域+DNA结构正常",3755,"20q13","NM_002237"]
["32630A(747)v15988",53,21,0.3962,"32630A","KCNJ12","chr17:21318969","c.315C>T(exon3)","p.I105I","rs79666990",0.0002,0,0,0,0.4,0.45,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,58,0,"KCNJ12",1,120,"同义",13103,"0.3966=23/58","位于基因组单拷贝区域+DNA结构正常",3768,"17p11.2","NM_021012"]
["32630A(747)v16047",10,10,1,"32630A","KCNK12","chr2:47748292","c.1047T>C(exon2)","p.G349G","rs2278139",0.59,0.62,0.61,0.63,0.7,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"KCNK12",1,19,"同义",13203,"1.0000=12/12","位于基因组单拷贝区域+DNA结构正常",56660,"2p16.3","NM_022055"]
["32630A(747)v16062",5,5,1,"32630A","KCNK4","chr11:64066859","c.843G>A(exon7)","p.T281T","rs2232417",0.79,0.9,0.93,0.86,0.88,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KCNK4",1,38,"同义",13203,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",50801,"11q13","NM_033310"]
["32630A(747)v16104",59,59,1,"32630A","KCP","chr7:128547512","c.221-6C>T(exon3)","非编码区","rs6948542",0.35,0.58,0.57,0.59,0.52,0.55,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"KCP",1,60,"非编码区",16202,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",375616,"7q32.1","NM_001135914"]
["32630A(747)v16130",66,29,0.4394,"32630A","KDELR3","chr22:38877461","c.596T>G(exon4)","p.V199G","rs12004",0.26,0.38,0.36,0.41,0.39,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KDELR3",1,94,"非同义",12210,"0.4156=32/77","位于基因组单拷贝区域+DNA结构正常",11015,"22q13.1","NM_006855"]
["32630A(747)v16202",68,68,1,"32630A","KHNYN","chr14:24909475","c.*2984C>G(exon8)","非编码区","rs3211056",0.77,0.84,0.82,0.86,0.81,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"KHNYN",1,71,"非编码区",14200,"1.0000=73/73","位于基因组单拷贝区域+DNA结构正常",23351,"14q12","NM_015299"]
["32630A(747)v16240",57,57,1,"32630A","KIAA0556","chr16:27772901","c.3799G>A(exon19)","p.A1267T","rs4787984",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KIAA0556",1,97,"非同义",12220,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",23247,"16p12.1","NM_015202"]
["32630A(747)v16256",35,16,0.4571,"32630A","KIAA0753","chr17:6483046","c.*21A>G(exon19)","非编码区","rs3744720",0.69,0.65,0.63,0.67,0.69,0.7,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"KIAA0753",1,150,"非编码区",14200,"0.4250=17/40","位于基因组单拷贝区域+DNA结构正常",9851,"17p13.1","NM_014804"]
["32630A(747)v16315",119,118,0.9916,"32630A","KIAA1324","chr1:109735298","c.1749T>C(exon14)","p.G583G","rs658779",0.74,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"KIAA1324",1,91,"同义",13203,"0.9920=124/125","位于基因组单拷贝区域+DNA结构正常",57535,"1p13.3","NM_020775"]
["32630A(747)v16354",71,38,0.5352,"32630A","KIAA1456","chr8:12878830","c.642C>T(exon5)","p.S214S","rs3739309",0.3,0.13,0.12,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"KIAA1456",1,120,"同义",13203,"0.5309=43/81","位于基因组单拷贝区域+DNA结构正常",57604,"8p22","NM_020844"]
["32630A(747)v16390",15,15,1,"32630A","KIAA1609","chr16:84513299","c.*220T>G(exon8)","非编码区","rs422598",0.73,0.95,0.97,0.94,0.95,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"KIAA1609",1,67,"非编码区",14200,"1.0000=17/17","位于基因组单拷贝区域+DNA结构正常",57707,"16q24.1","NM_020947"]
["32630A(747)v16447",73,36,0.4932,"32630A","KIAA1804","chr1:233489707","c.1135+6G>T(exon3)","非编码区","rs7551511",0.51,0.51,0.52,0.5,0.47,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"KIAA1804",1,88,"非编码区",16202,"0.5059=43/85","位于基因组单拷贝区域+DNA结构正常",84451,"1q42","NM_032435"]
["32630A(747)v16483",3,2,0.6667,"32630A","KIF14","chr1:200522269","c.*247C>T(exon30)","非编码区","rs6667775",0.55,0.6,0.62,0.59,0.55,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"KIF14",1,160,"非编码区",14200,"0.6667=2/3","位于基因组多拷贝区域+DNA结构正常",9928,"1q32.1","NM_014875"]
["32630A(747)v16514",103,55,0.534,"32630A","KIF1A","chr2:241722445","c.864+16C>T(exon9)","非编码区","rs2288750",0.29,0.31,0.32,0.3,0.33,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体显性遗传性精神智力发育迟滞9型",null,614255,5,2,4,3,"KIF1A",0.99,70,"非编码区",16203,"0.5385=63/117","位于基因组单拷贝区域+DNA结构正常",547,"2q37.3","NM_001244008"]
["32630A(747)v16524",196,91,0.4643,"32630A","KIF20B","chr10:91484780","c.1866G>A(exon15)","p.E622E","rs8181361",0.36,0.29,0.32,0.25,0.25,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"KIF20B",1,230,"同义",13203,"0.4591=101/220","位于基因组单拷贝区域+DNA结构正常",9585,"10q23.31","NM_016195"]
["32630A(747)v16580",18,10,0.5556,"32630A","KIF7","chr15:90172600","c.3517+6C>T(exon17)","非编码区","rs74251725",0.28,0.33,0.38,0.29,0.32,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","Joubert综合征12型/Acrocallosal综合征/肢端胼胝体综合征","AR",200990,5,3,13,2,"KIF7",0.99,43,"非编码区",16202,"0.5263=10/19","位于基因组单拷贝区域+DNA结构正常",374654,"15q26.1","NM_198525",null,"rs74251725|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v16613",312,308,0.9872,"32630A","KIR3DL1","chr19:55340933","c.1105+13G>C(exon7)","非编码区","rs62124154",0.32,0.23,0.26,0.19,0.25,0.29,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"人类免疫缺陷病毒易感1型",null,609423,5,1,6,1,"KIR3DL1",1,510,"非编码区",16203,"0.9903=407/411","位于基因组多拷贝区域+DNA结构正常",3811,"19q13.4","NM_013289"]
["32630A(747)v16640",50,21,0.42,"32630A","KLC1","chr14:104167545","c.*5G>A(exon16)","非编码区","rs709399",0.5,0.45,0.5,0.4,0.4,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"KLC1",1,150,"非编码区",14200,"0.4262=26/61","位于基因组单拷贝区域+DNA结构正常",3831,"14q32.3","NM_001130107"]
["32630A(747)v16707",126,60,0.4762,"32630A","KLHL1","chr13:70370853","c.1639+17T>C(exon7)","非编码区","rs17727950",0.28,0.27,0.32,0.21,0.26,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"KLHL1",1,160,"非编码区",16203,"0.4841=76/157","位于基因组单拷贝区域+DNA结构正常",57626,"13q21","NM_020866"]
["32630A(747)v16752",104,45,0.4327,"32630A","KLHL6","chr3:183225944","c.812T>A(exon3)","p.F271Y",{"$nulls":7},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"KLHL6",1,92,"非同义",12420,"0.4833=58/120","位于基因组单拷贝区域+DNA结构正常",89857,"3q27.3","NM_130446"]
["32630A(747)v16771",28,28,1,"32630A","KLK12","chr19:51535130","c.457+2T>C(exon4)","剪切位点","rs3745540",0.53,0.6,0.6,0.59,0.68,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",15300858,{"$nulls":3},5,null,1,0,"KLK12",1,97,"剪切位点",16204,"1.0000=30/30","位于基因组单拷贝区域+DNA结构正常",43849,"19q13.33","NM_145894","rs3745540|\"Kallikrein_deficiency\"|15300858"]
["32630A(747)v16836",6,6,1,"32630A","KLRG2","chr7:139167934","c.455A>C(exon1)","p.K152T","rs1860150",0.63,0.72,0.71,0.72,0.7,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KLRG2",1,29,"非同义",12220,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",346689,"7q34","NM_198508"]
["32630A(747)v16846",60,60,1,"32630A","KNCN","chr1:47013364","c.*38A>G(exon3)","非编码区","rs1258041",0.91,0.7,0.7,0.71,0.74,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"KNCN",1,69,"非编码区",14200,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",148930,"1p33","NM_001097611"]
["32630A(747)v16870",22,21,0.9545,"32630A","KRAS","chr12:25362552","c.*298T>G(exon6)","非编码区","rs712",0.52,0.78,0.8,0.76,0.79,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21688344;23729275;23975373;23996697;24914331","胃癌",null,613659,5,1,4,9,"KRAS",1,160,"非编码区",14200,"0.9655=28/29","位于基因组多拷贝区域+DNA结构正常",3845,"12p12.1","NM_033360"]
["32630A(747)v16909",87,87,1,"32630A","KRT14","chr17:39742898","c.189C>T(exon1)","p.C63C","rs11551758",0.68,0.95,0.96,0.95,0.95,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","局限性单纯性大疱性表皮松解症","AD",131800,5,1,5,6,"KRT14",1,100,"同义",13203,"1.0000=100/100","位于基因组多拷贝区域+DNA结构正常",3861,"17q12-q21","NM_000526",null,"rs11551758|not provided|NA|NA|no assertion provided|NA"]
["32630A(747)v16926",61,21,0.3443,"32630A","KRT1","chr12:53069014","c.1898A>G(exon9)","p.K633R","rs14024",0.28,0.56,0.55,0.56,0.61,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17668073,"表皮松懈性过度角化型鱼鳞病","AD",113800,5,1,2,6,"KRT1",1,120,"非同义",12220,"0.3026=23/76","位于基因组单拷贝区域+DNA结构正常",3848,"12q13.13","NM_006121"]
["32630A(747)v16959",58,26,0.4483,"32630A","KRT36","chr17:39646021","c.96T>C(exon1)","p.R32R","rs1003842",0.77,0.73,0.75,0.71,0.76,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KRT36",1,91,"同义",13203,"0.4688=30/64","位于基因组单拷贝区域+DNA结构正常",8689,"17q12-q21","NM_003771"]
["32630A(747)v16977",43,23,0.5349,"32630A","KRT40","chr17:39137104","c.908T>C(exon7)","p.M303T","rs9908389",0.36,0.18,0.15,0.21,0.18,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"KRT40",1,110,"非同义",12220,"0.5400=27/50","位于基因组单拷贝区域+DNA结构正常",125115,"17q21.2","NM_182497"]
["32630A(747)v17016",6,6,1,"32630A","KRT6C","chr12:52862562","c.*284C>A(exon9)","非编码区","rs447151",0.25,0.5,0.48,0.51,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"点状或弥漫性非表皮松懈型掌跖角化病","AD",615735,5,1,15,1,"KRT6C",1,150,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",286887,"12q13.13","NM_173086"]
["32630A(747)v17066",127,63,0.4961,"32630A","KRT76","chr12:53165949","c.1066G>A(exon5)","p.E356K","rs12296548",0.14,0.1,0.11,0.092,0.11,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KRT76",1,140,"非同义",12210,"0.5252=73/139","位于基因组多拷贝区域+DNA结构正常",51350,"12q13.13","NM_015848"]
["32630A(747)v17077",56,56,1,"32630A","KRT79","chr12:53227803","c.242T>C(exon1)","p.L81S","rs2638497",0.74,0.79,0.8,0.77,0.78,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KRT79",1,81,"非同义",12220,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",338785,"12q13.13","NM_175834"]
["32630A(747)v17141",85,85,1,"32630A","KRTAP10-1","chr21:45959195","c.839C>T(exon1)","p.P280L","rs233316",0.62,0.49,0.47,0.52,0.54,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"KRTAP10-1",1,120,"非同义",12210,"1.0000=104/104","位于基因组多拷贝区域+DNA结构正常",386677,"21q22.3","NM_198691"]
["32630A(747)v17179",55,44,0.8,"32630A","KRTAP10-7","chr21:46021088","c.567C>T(exon1)","p.S189S","rs388827",{"$nulls":4},0.5,0.58,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,15,0,"KRTAP10-7",1,110,"同义",13303,"0.8281=53/64","位于基因组多拷贝区域+DNA结构正常",386675,"21q22.3","NM_198689"]
["32630A(747)v17216",194,194,1,"32630A","KRTAP19-6","chr21:31914000","c.153A>T(exon1)","p.G51G","rs1023364",0.75,0.69,0.68,0.7,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KRTAP19-6",1,330,"同义",13203,"1.0000=229/229","位于基因组单拷贝区域+DNA结构正常",337973,"21q22.1","NM_181612"]
["32630A(747)v17277",124,52,0.4194,"32630A","KRTAP4-8","chr17:39254335-39254336","c.1(exon1)_c.2(exon1)insA","p.M1Nfs*12",null,null,0.41,0.4,0.42,0.42,0.42,"杂合","较高","起始密码子区域发生突变，影响蛋白编码起始位点",{"$nulls":4},1,null,11,0,"KRTAP4-8",1,130,"起始密码子",2740,"0.4130=57/138","位于基因组多拷贝区域+DNA结构正常",728224,"17q21.2","NM_031960"]
["32630A(747)v17291",130,32,0.2462,"32630A","KRTAP5-4","chr11:1643036","c.288T>G(exon1)","p.G96G",{"$nulls":5},0.17,0.23,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"KRTAP5-4",1,270,"同义",13403,"0.2453=39/159","位于基因组多拷贝区域+DNA结构正常",387267,"11p15.5","NM_001012709"]
["32630A(747)v17334",4,2,0.5,"32630A","KRTAP9-3","chr17:39389698","c.*465T>C(exon1)","非编码区","rs77345673",{"$nulls":4},0.25,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"KRTAP9-3",1,230,"非编码区",14300,"0.5000=2/4","位于基因组多拷贝区域+DNA结构正常",83900,"17q12-q21","NM_031962"]
["32630A(747)v17362",5,3,0.6,"32630A","KRTAP9-4","chr17:39406774","c.*337T>C(exon1)","非编码区",{"$nulls":5},0.35,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,28,0,"KRTAP9-4",1,290,"非编码区",14400,"0.5000=3/6","位于基因组多拷贝区域+DNA结构正常",85280,"17q12-q21","NM_033191"]
["32630A(747)v17423",155,79,0.5097,"32630A","LAIR1","chr19:54867572","c.708G>A(exon9)","p.T236T","rs7257187",0.23,0.25,0.24,0.25,0.23,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LAIR1",1,120,"同义",13203,"0.5193=94/181","位于基因组单拷贝区域+DNA结构正常",3903,"19q13.4","NM_002287"]
["32630A(747)v17457",139,76,0.5468,"32630A","LAMA3","chr18:21437931","c.4260G>C(exon33)","p.G1420G","rs867449",0.34,0.18,0.23,0.14,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"咽喉皮质增生综合征","AR",245660,5,3,9,3,"LAMA3",1,150,"同义",13203,"0.5563=89/160","位于基因组单拷贝区域+DNA结构正常",3909,"18q11.2","NM_198129"]
["32630A(747)v17476",83,36,0.4337,"32630A","LAMA4","chr6:112512905","c.651C>T(exon6)","p.T217T","rs2072021",0.32,0.23,0.22,0.24,0.29,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"1JJ型扩张型性心肌病","AD",615235,5,1,13,1,"LAMA4",1,170,"同义",13203,"0.4062=39/96","位于基因组单拷贝区域+DNA结构正常",3910,"6q21","NM_001105206",null,"rs2072021|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v17533",4,3,0.75,"32630A","LAMC2","chr1:183155305","c.-183G>A(exon1)","非编码区","rs2276543",0.3,0.35,0.39,0.31,0.35,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"非赫利茨型交界型大疱性表皮松解症","AR",226650,5,3,3,2,"LAMC2",1,130,"非编码区",14200,"0.7500=3/4","位于基因组单拷贝区域+DNA结构正常",3918,"1q25-q31","NM_005562"]
["32630A(747)v17579",125,67,0.536,"32630A","LARP1B","chr4:129043286","c.1467C>T(exon11)","p.Y489Y","rs3733320",0.59,0.49,0.55,0.43,0.45,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"LARP1B",1,220,"同义",13203,"0.5259=71/135","位于基因组多拷贝区域+DNA结构正常",55132,"4q28.2","NM_018078"]
["32630A(747)v17586",50,50,1,"32630A","LARP7","chr4:113578609","c.*126C>T(exon15)","非编码区","rs1129065",0.26,0.52,0.57,0.47,0.53,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Alazami综合征","AR",615071,5,1,3,1,"LARP7",1,250,"非编码区",14200,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",51574,"4q25","NM_001267039"]
["32630A(747)v17648",162,69,0.4259,"32630A","LCN9","chr9:138557934","c.524-8C>A(exon7)","非编码区","rs79685304",0.01,0.031,0.038,0.024,0.046,0.047,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,1,0,"LCN9",1,99,"非编码区",16101,"0.4231=77/182","位于基因组单拷贝区域+DNA结构正常",392399,"9q34.3","NM_001001676"]
["32630A(747)v17681",139,139,1,"32630A","LDHB","chr12:21791272","c.713+15A>G(exon6)","非编码区","rs1650289",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乳酸脱氢酶B缺陷症",null,614128,5,1,2,1,"LDHB",1,160,"非编码区",16203,"1.0000=160/160","位于基因组单拷贝区域+DNA结构正常",3945,"12p12.2-p12.1","NM_001174097"]
["32630A(747)v17722",5,2,0.4,"32630A","LEPRE1","chr1:43212111","c.*472G>A(exon14)","非编码区","rs6882",0.66,0.68,0.68,0.68,0.64,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"成骨不全8型","AR",610915,5,3,4,1,"LEPRE1",1,84,"非编码区",14200,"0.4000=2/5","位于基因组单拷贝区域+DNA结构正常",64175,"1p34.1","NM_001243246"]
["32630A(747)v17779",76,76,1,"32630A","LGMN","chr14:93178191","c.720T>C(exon10)","p.D240D","rs1951708",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"LGMN",1,110,"同义",13203,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",5641,"14q32.1","NM_001008530"]
["32630A(747)v17808",44,44,1,"32630A","LIG1","chr19:48621036","c.2442G>C(exon26)","p.A814A","rs13436",0.54,0.75,0.77,0.73,0.74,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"LIG1",1,82,"同义",13202,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",3978,"19q13.2-q13.3","NM_000234"]
["32630A(747)v17852",217,105,0.4839,"32630A","LILRB1","chr19:55143083","c.203T>C(exon5)","p.L68P","rs1061679",0.47,0.61,0.61,0.61,0.65,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"LILRB1",1,210,"非同义",12220,"0.4762=120/252","位于基因组多拷贝区域+DNA结构正常",10859,"19q13.4","NM_006669"]
["32630A(747)v17865",82,81,0.9878,"32630A","LILRB3","chr19:54722275","c.1548C>T(exon11)","p.A516A","rs1132609",0.23,0.26,0.25,0.27,0.28,0.26,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"LILRB3",1,130,"同义",13203,"0.9895=94/95","位于基因组多拷贝区域+DNA结构正常",11025,"19q13.4","NM_001081450"]
["32630A(747)v17923",79,79,1,"32630A","LIPC","chr15:58837957","c.591A>G(exon5)","p.G197G","rs6082",0.17,0.44,0.43,0.45,0.44,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肝脂酶缺乏症","AR",614025,5,1,5,3,"LIPC",1,120,"同义",13203,"1.0000=89/89","位于基因组单拷贝区域+DNA结构正常",3990,"15q21-q23","NM_000236"]
["32630A(747)v17953",2,2,1,"32630A","LIPT2","chr11:74204269","c.466+14A>C(exon1)","非编码区","rs10736798",0.88,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LIPT2",1,30,"非编码区",16203,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",387787,"11q13.4","NM_001144869"]
["32630A(747)v17988",58,31,0.5345,"32630A","LMX1B","chr9:129453229","c.441A>G(exon3)","p.E147E","rs2277158",0.48,0.54,0.57,0.5,0.51,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甲-髌-肘综合征/指甲髌骨综合征","AD",161200,5,1,2,1,"LMX1B",1,59,"同义",13203,"0.5385=35/65","位于基因组单拷贝区域+DNA结构正常",4010,"9q33.3","NM_001174146"]
["32630A(747)v18051",28,23,0.8214,"32630A","LOC100996256","chr7:149744835","c.109G>A(exon1)","p.G37S","rs141816877",0.38,0.64,0.66,0.63,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LOC100996256",null,null,"非同义",12220,"0.8387=26/31","位于基因组多拷贝区域+DNA结构正常",100996256,"-","XM_003846235"]
["32630A(747)v18063",23,11,0.4783,"32630A","LOC100996295","chr17:76497778","c.*1215T>C(exon2)","非编码区","rs671899",0.43,0.68,0.67,0.69,0.69,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"LOC100996295",null,null,"非编码区",14200,"0.4615=12/26","位于基因组单拷贝区域+DNA结构正常",100996295,"-","XM_003846285"]
["32630A(747)v18124",113,25,0.2212,"32630A","LOC100996350","chr3:75719139","c.1325C>T(exon2)","p.A442V","rs150761405",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,67,0,"LOC100996350",null,null,"非同义",12330,"0.2155=25/116","位于基因组多拷贝区域+DNA结构正常",100996350,"-","XM_003846328"]
["32630A(747)v18180",5,3,0.6,"32630A","LOC100996689","chr9:66458418","c.216C>G(exon2)","p.V72V","rs74779454",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"LOC100996689",null,null,"同义",13303,"0.4286=3/7","位于基因组多拷贝区域+DNA结构正常",100996689,"-","XM_003846432"]
["32630A(747)v18195",2,2,1,"32630A","LOC101059911","chr11:1213539","c.753C>T(exon1)","p.L251L","rs74888789",{"$nulls":5},0.0031,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,11,0,"LOC101059911",null,null,"同义",13303,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",null,null,"XM_003959934"]
["32630A(747)v18237",44,20,0.4545,"32630A","LOC101060171","chr10:27577615","c.417T>G(exon4)","p.A139A","rs11015640",0.38,0.33,0.37,0.29,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,3,0,"LOC101060171",null,null,"同义",13203,"0.4490=22/49","位于基因组多拷贝区域+DNA结构正常",null,null,"XM_003959931"]
["32630A(747)v18270",31,18,0.5806,"32630A","LOC440292","chr15:78237027","c.388C>T(exon4)","p.P130S","rs11855127",0.62,0.87,0.87,0.86,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"LOC440292",null,null,"非同义",12220,"0.6061=20/33","位于基因组多拷贝区域+DNA结构正常",440292,"15q24.3","XM_496078"]
["32630A(747)v18339",45,16,0.3556,"32630A","LOXL2","chr8:23160778","c.1996+17G>C(exon11)","非编码区","rs3765215",0.18,0.25,0.25,0.26,0.25,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LOXL2",1,64,"非编码区",16203,"0.4038=21/52","位于基因组单拷贝区域+DNA结构正常",4017,"8p21.3","NM_002318"]
["32630A(747)v18387",87,31,0.3563,"32630A","LRCH3","chr3:197553896-197553918","c.777+11(exon5)_c.777+33(exon5)delGTGGAAGCATCAGGTAAACCATG","非编码区","rs780550209",{"$nulls":4},0,0.078,"杂合","未知","内含子突变",{"$nulls":4},4,null,3,0,"LRCH3",1,190,"非编码区",2500,"0.3333=31/93","位于基因组多拷贝区域+DNA结构正常",84859,"3q29","NM_032773"]
["32630A(747)v18396",73,73,1,"32630A","LRFN5","chr14:42360633","c.1566T>C(exon4)","p.S522S","rs6572117",0.71,0.74,0.73,0.75,0.74,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LRFN5",1,120,"同义",13203,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",145581,"14q21.1","NM_152447"]
["32630A(747)v18462",11,7,0.6364,"32630A","LRP3","chr19:33696708","c.1032T>C(exon5)","p.T344T","rs2112800",0.68,0.44,0.4,0.49,0.39,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"LRP3",1,27,"同义",13203,"0.5833=7/12","位于基因组单拷贝区域+DNA结构正常",4037,"19q13.11","NM_002333"]
["32630A(747)v18472",67,67,1,"32630A","LRP4","chr11:46914598","c.1623T>C(exon13)","p.D541D","rs10769215",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"硬化性骨化病（硬化性狭窄病）2型","AD,AR",614305,5,1,5,2,"LRP4",1,89,"同义",13203,"1.0000=80/80","位于基因组单拷贝区域+DNA结构正常",4038,"11p11.2","NM_002334"]
["32630A(747)v18502",8,4,0.5,"32630A","LRRC16B","chr14:24538826-24538827","c.*213(exon40)_c.*214(exon40)insGC","非编码区",{"$nulls":7},"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"LRRC16B",1,78,"非编码区",2440,"0.4444=4/9","位于基因组单拷贝区域+DNA结构正常",90668,"14q11.2","NM_138360"]
["32630A(747)v18571",2,2,1,"32630A","LRRC8D","chr1:90286637-90286642","c.-361(exon1)_c.-356(exon1)delGCTGCC","非编码区","rs3033165",null,1,1,1,0,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"LRRC8D",1,89,"非编码区",2430,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",55144,"1p22.2","NM_001134479"]
["32630A(747)v18600",105,60,0.5714,"32630A","LRRK1","chr15:101605775","c.5133G>A(exon32)","p.P1711P","rs527932063",0.0002,0,0,0,0.00052,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"LRRK1",1,100,"同义",13103,"0.6066=74/122","位于基因组单拷贝区域+DNA结构正常",79705,"15q26.3","NM_024652"]
["32630A(747)v18646",33,17,0.5152,"32630A","LSR","chr19:35739702","c.-80G>A(exon1)","非编码区","rs16970163",0.22,0.16,0.14,0.19,0.19,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LSR",1,62,"非编码区",14200,"0.5000=18/36","位于基因组单拷贝区域+DNA结构正常",51599,"19q13.12","NM_205834"]
["32630A(747)v18690",93,93,1,"32630A","LUM","chr12:91502250","c.507T>C(exon2)","p.N169N","rs17853500",0.088,0.28,0.3,0.26,0.27,0.26,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19643966;20339468",{"$nulls":3},5,null,2,0,"LUM",1,160,"同义",13203,"1.0000=103/103","位于基因组单拷贝区域+DNA结构正常",4060,"12q21.3-q22","NM_002345"]
["32630A(747)v18709",3,3,1,"32630A","LY6E","chr8:144103435","c.*229C>T(exon4)","非编码区","rs4464948",0.91,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LY6E",1,49,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",4061,"8q24.3","NM_002346"]
["32630A(747)v18736",61,61,1,"32630A","LYAR","chr4:4276132","c.794A>G(exon7)","p.H265R","rs7376390",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LYAR",1,120,"非同义",12230,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",55646,"4p16.3","NM_017816"]
["32630A(747)v18773",19,12,0.6316,"32630A","LZTR1","chr22:21351714","c.*77C>G(exon21)","非编码区","rs116921548",0.051,0.18,0.17,0.19,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"神经鞘瘤2型","AD",615670,5,1,4,1,"LZTR1",1,63,"非编码区",14200,"0.7083=17/24","位于基因组单拷贝区域+DNA结构正常",8216,"22q11.21|22q11.1-q11.2","NM_006767"]
["32630A(747)v18830",92,92,1,"32630A","MAGEA5","chrX:151283599","c.*39A>C(exon3)","非编码区","rs210576",null,1,1,1,null,1,"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"MAGEA5",1,69,"非编码区",14300,"1.0000=111/111","位于基因组多拷贝区域+DNA结构正常",4104,"Xq28","NM_021049"]
["32630A(747)v18865",31,12,0.3871,"32630A","MAGOH","chr1:53704272","c.-152G>T(exon1)","非编码区","rs74686470",0.0082,0.041,0.024,0.058,0.043,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"MAGOH",1,180,"非编码区",14100,"0.3784=14/37","位于基因组单拷贝区域+DNA结构正常",4116,"1p32.3","NM_002370"]
["32630A(747)v18905",77,77,1,"32630A","MAN2A2","chr15:91452595","c.1235A>G(exon8)","p.Q412R","rs2106673",0.51,0.96,0.97,0.96,0.95,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MAN2A2",1,68,"非同义",12220,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",4122,"15q26.1","NM_006122"]
["32630A(747)v18963",89,42,0.4719,"32630A","MAP2K3","chr17:21204308","c.399+3G>T(exon5)","非编码区","rs55777930",{"$nulls":4},0.49,0.5,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,49,0,"MAP2K3",1,150,"非编码区",16301,"0.4898=48/98","位于基因组单拷贝区域+DNA结构正常",5606,"17q11.2","NM_145109"]
["32630A(747)v18980",127,52,0.4094,"32630A","MAP2K3","chr17:21215537","c.858C>A(exon10)","p.S286S","rs55736474",0.0022,0,0,0,0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,49,0,"MAP2K3",1,150,"同义",13103,"0.4362=65/149","位于基因组单拷贝区域+DNA结构正常",5606,"17q11.2","NM_145109"]
["32630A(747)v19024",96,96,1,"32630A","MAP3K4","chr6:161532856-161532856","c.4397-12(exon24)delT","非编码区","rs35961625",0.9,1,1,0.99,0.17,0.99,"纯合","未知","内含子突变",{"$nulls":4},4,null,3,0,"MAP3K4",1,160,"非编码区",2500,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",4216,"6q26","NM_005922"]
["32630A(747)v19097",54,29,0.537,"32630A","MAPK7","chr17:19286463","c.2370C>T(exon7)","p.A790A","rs2233083",0.027,0.12,0.12,0.12,0.1,0.11,"杂合","未知","预测范围之外的同义突变",23804708,{"$nulls":3},4,null,3,0,"MAPK7",1,56,"同义",13103,"0.5263=30/57","位于基因组单拷贝区域+DNA结构正常",5598,"17p11.2","NM_139033"]
["32630A(747)v19112",130,65,0.5,"32630A","MAPK8","chr10:49617960","c.291C>T(exon3)","p.S97S","rs55740545",0.0046,0.014,0.024,0.0049,0.015,0.018,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"MAPK8",1,200,"同义",13103,"0.5000=72/144","位于基因组单拷贝区域+DNA结构正常",5599,"10q11.22","NM_002750"]
["32630A(747)v19145",12,12,1,"32630A","MARCH2","chr19:8503574","c.*144A>G(exon6)","非编码区","rs11259981",0.85,0.99,0.98,0.99,0.99,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MARCH2",1,64,"非编码区",14200,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",51257,"19p13.2","NM_016496"]
["32630A(747)v19179",21,6,0.2857,"32630A","MAST1","chr19:12985576","c.4605A>G(exon26)","p.S1535S","rs11085822",0.44,0.67,0.7,0.64,0.62,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MAST1",1,55,"同义",13203,"0.2692=7/26","位于基因组单拷贝区域+DNA结构正常",22983,"19p13.2","NM_014975"]
["32630A(747)v19237",4,4,1,"32630A","MAVS","chr20:3847635","c.*841G>A(exon7)","非编码区","rs76557664",0.0054,0.029,0.048,0.0097,null,0.0047,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"MAVS",1,53,"非编码区",14100,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",57506,"20p13","NM_020746"]
["32630A(747)v19280",11,8,0.7273,"32630A","MC1R","chr16:89986154","c.488G>A(exon1)","p.R163Q","rs885479",0.19,0.62,0.6,0.64,0.66,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11487574;17999355;19503611;20042077;21052032","女性特异性κ-阿片受体拮抗剂痛觉缺失增强",null,613098,5,2,5,4,"MC1R",1,23,"非同义",12220,"0.7273=8/11","位于基因组单拷贝区域+DNA结构正常",4157,"16q24.3","NM_002386","ARG163GLN|\"Ephelides_increased_risk_association_with\"|11487574"]
["32630A(747)v19281",25,18,0.72,"32630A","MC1R","chr16:89986608","c.942A>G(exon1)","p.T314T","rs2228478",0.26,0.27,0.33,0.21,0.21,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15660291;17999355;18654799;20042077;21052032","女性特异性κ-阿片受体拮抗剂痛觉缺失增强",null,613098,5,2,5,4,"MC1R",1,23,"同义",13203,"0.6562=21/32","位于基因组单拷贝区域+DNA结构正常",4157,"16q24.3","NM_002386"]
["32630A(747)v19344",129,63,0.4884,"32630A","MCOLN2","chr1:85462582","c.-27G>C(exon1)","非编码区","rs11161503",0.45,0.64,0.65,0.64,0.64,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MCOLN2",1,210,"非编码区",14200,"0.5000=74/148","位于基因组单拷贝区域+DNA结构正常",255231,"1p22","NM_153259"]
["32630A(747)v19375",51,27,0.5294,"32630A","MDGA1","chr6:37606305","c.2667+8C>T(exon15)","非编码区","rs3818020",0.17,0.22,0.19,0.26,0.25,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MDGA1",1,59,"非编码区",16203,"0.5273=29/55","位于基因组单拷贝区域+DNA结构正常",266727,"6p21","NM_153487"]
["32630A(747)v19418",350,165,0.4714,"32630A","ME2","chr18:48458662","c.1349G>A(exon13)","p.G450E","rs649224",0.16,0.1,0.081,0.12,0.09,0.095,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",15532013,"特发性全身型癫痫（易感）","AD",600669,5,1,3,2,"ME2",1,240,"非同义",12220,"0.4384=185/422","位于基因组单拷贝区域+DNA结构正常",4200,"18q21","NM_002396"]
["32630A(747)v19470",47,47,1,"32630A","MEFV","chr16:3297181","c.1422G>A(exon5)","p.E474E","rs224208",0.64,0.63,0.7,0.56,0.62,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18576390;19784369;9288758;10364520","家族性地中海热","AR",249100,5,1,9,2,"MEFV",1,62,"同义",13203,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",4210,"16p13.3","NM_000243",null,"rs224208|Benign|OMIM:249100|NA|criteria provided, single submitter|NA"]
["32630A(747)v19492",27,13,0.4815,"32630A","MEI1","chr22:42177816","c.3054C>A(exon24)","p.S1018S","rs6002481",0.19,0.036,0.052,0.019,0.02,0.023,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"MEI1",1,87,"同义",13203,"0.4828=14/29","位于基因组单拷贝区域+DNA结构正常",150365,"22q13.2","NM_152513"]
["32630A(747)v19539",11,6,0.5455,"32630A","METTL21B","chr12:58166403","c.-105T>G(exon1)","非编码区","rs2291617",0.38,0.64,0.65,0.64,0.62,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"METTL21B",1,73,"非编码区",14200,"0.5455=6/11","位于基因组单拷贝区域+DNA结构正常",25895,"12q14.1","NM_206914"]
["32630A(747)v19586",46,46,1,"32630A","MFAP3","chr5:153429187","c.-96T>A(exon2)","非编码区","rs689715",0.67,0.88,0.88,0.87,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MFAP3",1,96,"非编码区",14200,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",4238,"5q32-q33.2","NM_001242336"]
["32630A(747)v19608",58,58,1,"32630A","MFN2","chr1:12071680","c.*58A>G(exon19)","非编码区","rs1042842",0.73,0.65,0.67,0.63,0.61,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性运动感觉性神经病VI型","AD",601152,5,1,3,2,"MFN2",1,81,"非编码区",14200,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",9927,"1p36.22","NM_014874"]
["32630A(747)v19640",181,82,0.453,"32630A","MGAT4A","chr2:99271990-99271990","c.699-7(exon8)delA","非编码区","rs3834124",0.0024,0.0096,0.0048,0.015,0,0.0091,"杂合","未知","内含子突变",{"$nulls":4},4,null,3,0,"MGAT4A",1,230,"非编码区",2500,"0.4183=87/208","位于基因组单拷贝区域+DNA结构正常",11320,"2q12","NM_012214"]
["32630A(747)v19678",68,34,0.5,"32630A","MIB2","chr1:1551927","c.214T>C(exon2)","p.F72L","rs7418389",0.48,0.19,0.2,0.18,0.2,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"MIB2",1,39,"非同义",12220,"0.4930=35/71","位于基因组单拷贝区域+DNA结构正常",142678,"1p36.33","NM_080875"]
["32630A(747)v19738",107,48,0.4486,"32630A","MICA","chr6:31382932","c.*173G>A(exon6)","非编码区","rs9266826",0.34,0.29,0.29,0.29,0.28,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,30,0,"MICA",1,99,"非编码区",14200,"0.4194=52/124","位于基因组多拷贝区域+DNA结构正常",100507436,"6p21.33","NM_001177519"]
["32630A(747)v19753",4,3,0.75,"32630A","MIER1","chr1:67452482","c.*1899G>A(exon15)","非编码区","rs3924795",0.12,0.038,0.019,0.058,0.028,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MIER1",1,230,"非编码区",14200,"0.7500=3/4","位于基因组单拷贝区域+DNA结构正常",57708,"1p31.3","NM_001146110"]
["32630A(747)v19807",57,28,0.4912,"32630A","MKKS","chr20:10393629","c.534C>T(exon3)","p.I178I","rs17852625",0.19,0.25,0.26,0.23,0.2,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20301537;12107442","Mckusick-Kaufman综合征","AR",236700,5,3,5,2,"MKKS",1,110,"同义",13203,"0.4923=32/65","位于基因组单拷贝区域+DNA结构正常",8195,"20p12","NM_018848",null,"rs17852625|Benign;Likely benign|OMIM:209900|NA|criteria provided, single submitter|PubMed:20301537"]
["32630A(747)v19856",95,46,0.4842,"32630A","MLL3","chr7:151949068","c.1577G>C(exon11)","p.R526P","rs3735156",0.18,0.077,0.081,0.073,0.089,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24728327,{"$nulls":3},5,null,18,0,"MLL3",1,160,"非同义",12220,"0.4667=49/105","位于基因组单拷贝区域+DNA结构正常",58508,"7q36.1","NM_170606",null,"rs3735156|not provided|NA|NA|no assertion provided|PubMed:24728327"]
["32630A(747)v19874",51,25,0.4902,"32630A","MLLT4","chr6:168314998-168314998","c.2183+5(exon16)delG","非编码区","rs11355618",0.1,0.062,0.052,0.073,0,0.055,"杂合","未知","内含子突变",{"$nulls":4},4,null,7,0,"MLLT4",1,160,"非编码区",2500,"0.4561=26/57","位于基因组单拷贝区域+DNA结构正常",4301,"6q27","NM_001040000"]
["32630A(747)v19913",34,15,0.4412,"32630A","MMEL1","chr1:2541269","c.294T>C(exon5)","p.A98A","rs10797440",0.53,0.49,0.48,0.5,0.48,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"MMEL1",1,63,"同义",13202,"0.4324=16/37","位于基因组单拷贝区域+DNA结构正常",79258,"1p36","NM_033467"]
["32630A(747)v19945",28,15,0.5357,"32630A","MMP28","chr17:34093597","c.1485A>G(exon8)","p.A495A","rs118052277",0.027,0.091,0.1,0.083,0.1,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"MMP28",1,70,"同义",13103,"0.5000=15/30","位于基因组单拷贝区域+DNA结构正常",79148,"17q21.1","NM_024302"]
["32630A(747)v20007",98,53,0.5408,"32630A","MOCS1","chr6:39881120","c.698C>T(exon5)","p.A233V","rs35825585",0.11,0.26,0.28,0.23,0.22,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"钼辅因子缺乏症A","AR",252150,5,3,3,1,"MOCS1",1,67,"非同义",12220,"0.5185=56/108","位于基因组单拷贝区域+DNA结构正常",4337,"6p21.3","NM_005943"]
["32630A(747)v20058",134,134,1,"32630A","MPDZ","chr9:13112116","c.5544T>C(exon42)","p.I1848I","rs10809904",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"非综合征性脑积水2型","AR",615219,5,1,3,1,"MPDZ",0.99,170,"同义",13203,"1.0000=145/145","位于基因组单拷贝区域+DNA结构正常",8777,"9p23","NM_003829"]
["32630A(747)v20105",55,55,1,"32630A","MPRIP","chr17:17046024","c.980C>A(exon8)","p.P327Q","rs3744137",0.44,0.71,0.77,0.65,0.67,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MPRIP",1,78,"非同义",12210,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",23164,"17p11.2","NM_201274"]
["32630A(747)v20133",121,40,0.3306,"32630A","MRGPRX1","chr11:18956194","c.138A>G(exon1)","p.A46A","rs2014931",0.36,0.33,0.32,0.35,0.33,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MRGPRX1",1,190,"同义",13203,"0.3413=43/126","位于基因组多拷贝区域+DNA结构正常",259249,"11p15.1|11","NM_147199"]
["32630A(747)v20190",157,80,0.5096,"32630A","MRPL39","chr21:26969703","c.612A>G(exon6)","p.K204K","rs1135618",0.73,0.73,0.73,0.72,0.73,0.74,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"MRPL39",1,200,"同义",13203,"0.5108=95/186","位于基因组单拷贝区域+DNA结构正常",54148,"21q21.3","NM_080794"]
["32630A(747)v20193",192,84,0.4375,"32630A","MRPL39","chr21:26976237","c.291G>A(exon3)","p.E97E","rs7278284",0.14,0.16,0.14,0.17,0.14,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"MRPL39",1,200,"同义",13203,"0.4312=94/218","位于基因组单拷贝区域+DNA结构正常",54148,"21q21.3","NM_080794"]
["32630A(747)v20265",53,27,0.5094,"32630A","MS4A15","chr11:60531264","c.58A>G(exon2)","p.S20G","rs12363342",0.26,0.2,0.22,0.18,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MS4A15",1,56,"非同义",12220,"0.5091=28/55","位于基因组单拷贝区域+DNA结构正常",219995,"11q12.2","NM_001098835"]
["32630A(747)v20285",116,116,1,"32630A","MSH2","chr2:47703500","c.2006-6T>C(exon13)","非编码区","rs2303428",0.13,0.28,0.3,0.26,0.36,0.35,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","8261515;7797014;16985024;19741564;19930554","错配修复肿瘤综合征（Lynch综合征）","AR",276300,5,1,3,3,"MSH2",1,190,"非编码区",16202,"1.0000=138/138","位于基因组单拷贝区域+DNA结构正常",4436,"2p21","NM_000251","rs2303428|\"High-grade_dysplasia/cancer_in_ulcerative_colitis_association\"|7797014","rs2303428|Benign|OMIM:120435|NA|reviewed by expert panel|PubMed:8261515"]
["32630A(747)v20324",63,26,0.4127,"32630A","MST1","chr3:49726028","c.94+3A>G(exon1)","非编码区","rs62262685",{"$nulls":4},0.47,0.47,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"MST1",1,82,"非编码区",16302,"0.4722=34/72","位于基因组多拷贝区域+DNA结构正常",4485,"3p21","NM_020998"]
["32630A(747)v20372",96,50,0.5208,"32630A","MTHFR","chr1:11854476","c.1286A>C(exon8)","p.E429A","rs1801131",0.25,0.19,0.16,0.22,0.17,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","9545395;11781870;14724163;16372906;16642433","其他易栓症易感基因","AD",188050,5,1,3,4,"MTHFR",1,81,"非同义",11200,"0.5045=56/111","位于基因组单拷贝区域+DNA结构正常",4524,"1p36.3","NM_005957","GLU429ALA|\"Neural_tube_defect_increased_risk_association_with\"|9545395","GLU429ALA|Benign;Uncertain significance;risk factor|OMIM:606764|OMIM:607093.0004|no assertion criteria provided|PubMed:9545395","GLU429ALA|none|607093.0004.3"]
["32630A(747)v20388",56,27,0.4821,"32630A","MTMR4","chr17:56585872","c.508C>G(exon7)","p.L170V","rs3744108",0.39,0.5,0.5,0.51,0.5,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MTMR4",1,84,"非同义",12220,"0.4426=27/61","位于基因组单拷贝区域+DNA结构正常",9110,"17q22-q23","NM_004687"]
["32630A(747)v20423",2,2,1,"32630A","MTRNR2L10","chrX:55207888","c.*465A>C(exon1)","非编码区",{"$nulls":7},"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,21,0,"MTRNR2L10",null,null,"非编码区",14400,"1.0000=4/4","位于基因组多拷贝区域+DNA结构正常",100463488,"Xp11.21","NM_001190708"]
["32630A(747)v20459",6,6,1,"32630A","MTRNR2L1","chr17:22023876","c.*414A>T(exon1)","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,38,0,"MTRNR2L1",null,null,"非编码区",14400,"1.0000=7/7","位于基因组多拷贝区域+DNA结构正常",100462977,"17p11.2","NM_001190452"]
["32630A(747)v20520",2,2,1,"32630A","MTRNR2L8","chr11:10530054","c.-281C>T(exon1)","非编码区",{"$nulls":5},0.83,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,36,0,"MTRNR2L8",null,null,"非编码区",14400,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",100463486,"11p15.3","NM_001190702"]
["32630A(747)v20539",54,54,1,"32630A","MTR","chr1:237061056","c.*112A>C(exon33)","非编码区","rs2853522",0.54,0.51,0.49,0.53,0.54,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"高同型半胱氨酸血症cblG type （III型）","AR",250940,5,1,9,2,"MTR",1,190,"非编码区",14200,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",4548,"1q43","NM_000254"]
["32630A(747)v20578",13,13,1,"32630A","MUC12","chr7:100637605","c.3761A>C(exon2)","p.K1254T","rs200925391",0.82,0.99,0.99,0.98,0.97,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,41,0,"MUC12",1,480,"非同义",12220,"1.0000=13/13","位于基因组多拷贝区域+DNA结构正常",10071,"7q22","NM_001164462"]
["32630A(747)v20633",184,92,0.5,"32630A","MUC16","chr19:9005674","c.39732C>T(exon46)","p.D13244D","rs4804091",0.22,0.25,0.24,0.26,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,80,0,"MUC16",1,160,"同义",13203,"0.5117=109/213","位于基因组多拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690"]
["32630A(747)v20649",155,78,0.5032,"32630A","MUC16","chr19:9060085","c.27361G>A(exon3)","p.A9121T","rs4804382",0.2,0.32,0.32,0.33,0.33,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,80,0,"MUC16",1,160,"非同义",12220,"0.5141=91/177","位于基因组多拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690"]
["32630A(747)v20690",133,64,0.4812,"32630A","MUC17","chr7:100675376","c.679A>C(exon3)","p.K227Q","rs10229731",0.24,0.25,0.27,0.23,0.22,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,66,0,"MUC17",1,280,"非同义",12220,"0.4967=75/151","位于基因组多拷贝区域+DNA结构正常",140453,"7q22.1","NM_001040105"]
["32630A(747)v20766",137,64,0.4672,"32630A","MUC20","chr3:195453014","c.922G>A(exon2)","p.G308R","rs3828410",{"$nulls":4},0.42,0.42,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,20,0,"MUC20",1,150,"非同义",12320,"0.4706=72/153","位于基因组多拷贝区域+DNA结构正常",200958,"3q29","NM_001098516"]
["32630A(747)v20788",153,60,0.3922,"32630A","MUC2","chr11:1092872","c.4688C>G(exon31)","p.T1563S","rs56219745",{"$nulls":4},0.48,0.51,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,22,0,"MUC2",1,140,"非同义",12330,"0.4012=69/172","位于基因组多拷贝区域+DNA结构正常",4583,"11p15.5","NM_002457"]
["32630A(747)v20841",17,7,0.4118,"32630A","MUC4","chr3:195510266","c.8185T>G(exon2)","p.S2729A",{"$nulls":5},0.022,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,70,0,"MUC4",1,280,"非同义",12420,"0.3182=7/22","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406"]
["32630A(747)v20856",171,90,0.5263,"32630A","MUC4","chr3:195511590","c.6861T>C(exon2)","p.T2287T","rs3103955",null,0.69,0.78,0.59,0.69,0.79,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,70,0,"MUC4",1,280,"同义",13303,"0.5312=102/192","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406"]
["32630A(747)v20917",228,121,0.5307,"32630A","MUC5B","chr11:1269835","c.11725G>A(exon31)","p.V3909I","rs2943521",0.46,0.67,0.69,0.65,0.65,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,5,1,47,1,"MUC5B",1,150,"非同义",12220,"0.5552=156/281","位于基因组多拷贝区域+DNA结构正常",727897,"11p15.5","NM_002458"]
["32630A(747)v20973",595,138,0.2319,"32630A","MUC6","chr11:1017988","c.4813C>A(exon31)","p.P1605T","rs112579249",{"$nulls":4},0.052,0.014,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,83,0,"MUC6",1,350,"非同义",12320,"0.2224=155/697","位于基因组多拷贝区域+DNA结构正常",4588,"11p15.5","NM_005961"]
["32630A(747)v21019",111,53,0.4775,"32630A","MX1","chr21:42817930","c.1135G>A(exon15)","p.V379I","rs469390",0.46,0.25,0.28,0.21,0.25,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19434718,{"$nulls":3},5,null,5,0,"MX1",1,130,"非同义",12220,"0.4851=65/134","位于基因组单拷贝区域+DNA结构正常",4599,"21q22.3","NM_001144925"]
["32630A(747)v21048",50,30,0.6,"32630A","MYBBP1A","chr17:4443756","c.3321G>A(exon25)","p.V1107V","rs74822499",0.01,0.055,0.067,0.044,0.05,0.05,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"MYBBP1A",1,58,"同义",13103,"0.5893=33/56","位于基因组单拷贝区域+DNA结构正常",10514,"17p13.3","NM_014520"]
["32630A(747)v21069",67,67,1,"32630A","MYBPHL","chr1:109839433","c.702T>C(exon5)","p.T234T","rs1278285",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"MYBPHL",1,98,"同义",13203,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",343263,"1p13.3","NM_001010985"]
["32630A(747)v21112",43,43,1,"32630A","MYH14","chr19:50763889","c.2355-14C>T(exon20)","非编码区","rs12981413",0.44,0.34,0.35,0.33,0.3,0.31,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体显性遗传耳聋4型","AD",600652,5,1,11,2,"MYH14",1,69,"非编码区",16202,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",79784,"19q13.33","NM_001145809",null,"rs12981413|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v21143",61,61,1,"32630A","MYH4","chr17:10355371","c.3625G>A(exon27)","p.E1209K","rs11651295",0.51,0.88,0.9,0.85,0.89,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"MYH4",1,210,"非同义",12210,"1.0000=71/71","位于基因组多拷贝区域+DNA结构正常",4622,"17p13.1","NM_017533"]
["32630A(747)v21151",72,38,0.5278,"32630A","MYH7B","chr20:33565755","c.73G>A(exon5)","p.A25T","rs11906160",0.16,0.077,0.1,0.053,0.07,0.089,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22216198,{"$nulls":3},5,null,11,0,"MYH7B",1,75,"非同义",12220,"0.5000=40/80","位于基因组单拷贝区域+DNA结构正常",57644,"20q11.22","NM_020884"]
["32630A(747)v21171",137,75,0.5474,"32630A","MYH9","chr22:36710183","c.1554+7A>G(exon13)","非编码区","rs3752462",0.39,0.22,0.19,0.25,0.24,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;18716610;18794854;18794856;19153477","May-Hegglin异常/出血性疾病，血小板6型","AD",155100,5,1,7,6,"MYH9",1,67,"非编码区",16203,"0.5640=97/172","位于基因组多拷贝区域+DNA结构正常",4627,"22q13.1","NM_002473",null,"rs3752462|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v21216",25,25,1,"32630A","MYO18A","chr17:27422053","c.4410G>A(exon29)","p.A1470A","rs2320786",0.51,0.82,0.84,0.8,0.77,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MYO18A",1,58,"同义",13203,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",399687,"17q11.2","NM_078471"]
["32630A(747)v21239",23,23,1,"32630A","MYO1C","chr17:1371123","c.2967+11A>G(exon29)","非编码区","rs8072859",0.74,0.52,0.54,0.5,0.53,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MYO1C",1,58,"非编码区",16203,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",4641,"17p13.3","NM_001080779"]
["32630A(747)v21273",187,187,1,"32630A","MYO3B","chr2:171356274","c.3245G>A(exon27)","p.R1082K","rs10185178",0.9,0.99,0.98,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"MYO3B",1,170,"非同义",12220,"1.0000=218/218","位于基因组单拷贝区域+DNA结构正常",140469,"2q31.1-q31.2","NM_138995"]
["32630A(747)v21302",60,32,0.5333,"32630A","MYO7A","chr11:76918322","c.5743-12T>C(exon42)","非编码区","rs2276291",0.59,0.49,0.5,0.48,0.5,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"尤塞氏综合症I型（IA型和IB型）/Usher综合征","AR",276900,5,3,10,3,"MYO7A",1,79,"非编码区",16202,"0.5278=38/72","位于基因组单拷贝区域+DNA结构正常",4647,"11q13.5","NM_000260",null,"rs2276291|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v21351",82,41,0.5,"32630A","MYOM1","chr18:3126811","c.2879T>C(exon19)","p.I960T","rs1071600",0.25,0.33,0.3,0.36,0.34,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"MYOM1",1,150,"非同义",12220,"0.4688=45/96","位于基因组单拷贝区域+DNA结构正常",8736,"18p11.31","NM_003803"]
["32630A(747)v21407",136,63,0.4632,"32630A","MYRIP","chr3:40251392","c.1713T>C(exon11)","p.D571D","rs1799418",0.37,0.3,0.25,0.34,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MYRIP",1,120,"同义",13203,"0.4364=72/165","位于基因组单拷贝区域+DNA结构正常",25924,"3p22.1","NM_015460"]
["32630A(747)v21444",174,173,0.9943,"32630A","NAA25","chr12:112477055","c.2627A>G(exon22)","p.K876R","rs12231744",0.17,0.59,0.61,0.56,0.61,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"NAA25",1,170,"非同义",12220,"1.0000=204/204","位于基因组单拷贝区域+DNA结构正常",80018,"12q24.13","NM_024953"]
["32630A(747)v21477",20,7,0.35,"32630A","NACC2","chr9:138903635","c.1491C>T(exon6)","p.A497A","rs9753",0.15,0.24,0.22,0.26,0.21,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NACC2",1,25,"同义",13203,"0.3913=9/23","位于基因组单拷贝区域+DNA结构正常",138151,"9q34.3","NM_144653"]
["32630A(747)v21492",40,19,0.475,"32630A","NAGA","chr22:42463814","c.279G>A(exon3)","p.P93P","rs133369",0.68,0.85,0.87,0.84,0.83,0.85,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","Schindler病I型和III型","AR",609241,5,3,2,2,"NAGA",1,74,"同义",13203,"0.4762=20/42","位于基因组单拷贝区域+DNA结构正常",4668,"22q11","NM_000262",null,"rs133369|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v21567",99,99,1,"32630A","NAV2","chr11:20099541","c.5238C>T(exon26)","p.D1746D","rs6483642",0.91,0.95,0.95,0.95,0.94,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"NAV2",1,98,"同义",13202,"1.0000=104/104","位于基因组单拷贝区域+DNA结构正常",89797,"11p15.1","NM_001244963"]
["32630A(747)v21599",75,40,0.5333,"32630A","NBN","chr8:90970935","c.1124+18C>T(exon9)","非编码区","rs2234744",0.35,0.46,0.49,0.43,0.43,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19276285;19523210","Nijmegen断裂综合征","AR",251260,5,3,8,3,"NBN",1,180,"非编码区",16203,"0.5488=45/82","位于基因组单拷贝区域+DNA结构正常",4683,"8q21","NM_002485",null,"rs2234744|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v21612",179,53,0.2961,"32630A","NBPF10","chr1:145301802","c.1071C>G(exon7)","p.L357L","rs6690575",{"$nulls":4},0.44,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,20,0,"NBPF10",1,310,"同义",13303,"0.2900=58/200","位于基因组多拷贝区域+DNA结构正常",100132406,"1q21.1","NM_001039703"]
["32630A(747)v21666",12,5,0.4167,"32630A","NBPF1","chr1:16915551","c.286A>G(exon9)","p.K96E","rs202151903",{"$nulls":4},0.0026,0.37,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,30,0,"NBPF1",1,1100,"非同义",12320,"0.4286=6/14","位于基因组多拷贝区域+DNA结构正常",55672,"1p36.13","NM_017940"]
["32630A(747)v21710",40,40,1,"32630A","NCAPG","chr4:17812615","c.-86A>C(exon1)","非编码区","rs2074974",0.69,0.51,0.5,0.52,0.53,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NCAPG",1,210,"非编码区",14200,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",64151,"4p15.33","NM_022346"]
["32630A(747)v21737",37,17,0.4595,"32630A","NCKAP5L","chr12:50189602","c.2041T>C(exon8)","p.S681P","rs3813526",0.28,0.52,0.51,0.52,0.54,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NCKAP5L",1,51,"非同义",12220,"0.4737=18/38","位于基因组单拷贝区域+DNA结构正常",57701,"12q13.12","NM_001037806"]
["32630A(747)v21767",6,2,0.3333,"32630A","NCOA5","chr20:44691532","c.1151-4C>G(exon8)","非编码区","rs201653586",0.0004,0.0024,0.0048,0,null,0.0012,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"NCOA5",1,98,"非编码区",16102,"0.2857=2/7","位于基因组单拷贝区域+DNA结构正常",57727,"20q12-q13.12","NM_020967"]
["32630A(747)v21810",109,109,1,"32630A","NDNF","chr4:121958187","c.939T>C(exon4)","p.D313D","rs3822230",0.43,0.66,0.66,0.67,0.64,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NDNF",1,130,"同义",13203,"1.0000=120/120","位于基因组单拷贝区域+DNA结构正常",79625,"4q27","NM_024574"]
["32630A(747)v21867",133,64,0.4812,"32630A","NEBL","chr10:21108377","c.2031G>A(exon20)","p.R677R","rs1006363",0.18,0.24,0.19,0.29,0.25,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,{"$nulls":3},5,null,5,0,"NEBL",1,180,"同义",13203,"0.4935=76/154","位于基因组单拷贝区域+DNA结构正常",10529,"10p12","NM_006393",null,"rs1006363|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v21890",150,65,0.4333,"32630A","NEB","chr2:152536498","c.3081A>T(exon31)","p.K1027N","rs6735208",0.58,0.5,0.5,0.5,0.52,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"2型杆状体肌病","AR",256030,5,3,22,1,"NEB",1,220,"非同义",12210,"0.4633=82/177","位于基因组单拷贝区域+DNA结构正常",4703,"2q22","NM_001271208",null,"LYS1027ASN|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v21936",251,122,0.4861,"32630A","NEK10","chr3:27332820","c.1538T>C(exon19)","p.L513S","rs10510592",0.21,0.11,0.11,0.11,0.12,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24943594,{"$nulls":3},5,null,4,0,"NEK10",1,200,"非同义",12220,"0.5017=148/295","位于基因组单拷贝区域+DNA结构正常",152110,"3p24.1","NM_199347","LEU513SER|\"Breast_cancer_susceptibility_to\"|24943594"]
["32630A(747)v21986",3,3,1,"32630A","NES","chr1:156646668","c.389T>C(exon1)","p.V130A","rs4278369",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"NES",1,47,"非同义",12220,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",10763,"1q23.1","NM_006617"]
["32630A(747)v22011",26,26,1,"32630A","NEURL","chr10:105254090","c.-55G>T(exon1)","非编码区","rs2986041",0.86,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NEURL",0.94,28,"非编码区",14200,"1.0000=31/31","位于基因组单拷贝区域+DNA结构正常",9148,"10q25.1","NM_004210"]
["32630A(747)v22035",125,51,0.408,"32630A","NFE2L3","chr7:26224668","c.1350C>T(exon4)","p.C450C","rs2074566",0.36,0.56,0.58,0.54,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NFE2L3",1,93,"同义",13203,"0.3576=54/151","位于基因组多拷贝区域+DNA结构正常",9603,"7p15.2","NM_004289"]
["32630A(747)v22078",196,196,1,"32630A","NGLY1","chr3:25775356","c.1260+7T>G(exon8)","非编码区","rs6550987",0.8,0.95,0.95,0.95,0.94,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","先天性糖基化障碍Ⅳ型","AR",615273,5,1,1,1,"NGLY1",1,180,"非编码区",16203,"1.0000=238/238","位于基因组单拷贝区域+DNA结构正常",55768,"3p24.2","NM_018297",null,"rs6550987|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v22136",69,69,1,"32630A","NIPSNAP3A","chr9:107521723","c.*104T>G(exon6)","非编码区","rs1046115",0.85,0.78,0.78,0.79,0.83,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NIPSNAP3A",1,260,"非编码区",14200,"1.0000=76/76","位于基因组多拷贝区域+DNA结构正常",25934,"9q31.1","NM_015469"]
["32630A(747)v22184",44,44,1,"32630A","NLGN2","chr17:7317647-7317648","c.509-16(exon3)_c.509-15(exon3)insC","非编码区","rs60631713",1,1,1,1,0.98,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,4,0,"NLGN2",1,47,"非编码区",2500,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",57555,"17p13.1","NM_020795"]
["32630A(747)v22198",51,21,0.4118,"32630A","NLRC5","chr16:57071113","c.2718T>C(exon14)","p.S906S","rs1684579",0.58,0.38,0.38,0.38,0.35,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"NLRC5",1,65,"同义",13203,"0.3929=22/56","位于基因组单拷贝区域+DNA结构正常",84166,"16q13","NM_032206"]
["32630A(747)v22248",21,14,0.6667,"32630A","NLRP6","chr11:280816","c.1082A>T(exon4)","p.Y361F","rs7482965",0.7,0.32,0.33,0.31,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NLRP6",1,27,"非同义",12230,"0.6522=15/23","位于基因组单拷贝区域+DNA结构正常",171389,"11p15","NM_138329"]
["32630A(747)v22267",33,14,0.4242,"32630A","NME3","chr16:1820992","c.282A>T(exon4)","p.V94V","rs11890",0.76,0.65,0.65,0.66,0.64,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"NME3",1,35,"同义",13202,"0.4412=15/34","位于基因组单拷贝区域+DNA结构正常",4832,"16q13.3","NM_002513"]
["32630A(747)v22346",5,5,1,"32630A","NOL9","chr1:6614415","c.148T>C(exon1)","p.W50R","rs6693400",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"NOL9",1,130,"非同义",12230,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",79707,"1p36.31","NM_024654"]
["32630A(747)v22379",70,33,0.4714,"32630A","NOS2","chr17:26105932","c.1155C>T(exon10)","p.D385D","rs1137933",0.19,0.17,0.17,0.18,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15174013;15726497;17601350;17955236;18663495","疟疾,易感",null,611162,5,2,6,2,"NOS2",1,96,"同义",13203,"0.4932=36/73","位于基因组单拷贝区域+DNA结构正常",4843,"17q11.2-q12","NM_000625","rs1137933|\"Multiple_sclerosis_association_with\"|15174013"]
["32630A(747)v22385",58,58,1,"32630A","NOS3","chr7:150708089","c.2984+15A>G(exon23)","非编码区","rs891512",0.89,0.94,0.96,0.92,0.95,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17367796;17579350;17605790;18246059;18482449","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,6,4,"NOS3",0.98,57,"非编码区",16203,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",4846,"7q36","NM_000603"]
["32630A(747)v22413",42,20,0.4762,"32630A","NOTCH3","chr19:15295134","c.2538C>T(exon16)","p.C846C","rs1043996",0.52,0.58,0.62,0.53,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常显遗传脑动脉病及动脉硬化伴皮质下梗死及白质脑病","AD",125310,5,1,10,2,"NOTCH3",1,46,"同义",13203,"0.4717=25/53","位于基因组单拷贝区域+DNA结构正常",4854,"19p13.2-p13.1","NM_000435"]
["32630A(747)v22455",112,58,0.5179,"32630A","NPFFR2","chr4:72934632","c.-107C>T(exon2)","非编码区","rs9884478",0.79,0.54,0.54,0.53,0.53,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NPFFR2",1,120,"非编码区",14200,"0.5038=66/131","位于基因组单拷贝区域+DNA结构正常",10886,"4q21","NM_001144756"]
["32630A(747)v22475",105,43,0.4095,"32630A","NPLOC4","chr17:79580457","c.273G>T(exon4)","p.T91T","rs17852306",0.085,0.19,0.19,0.19,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NPLOC4",1,110,"同义",13203,"0.4050=49/121","位于基因组单拷贝区域+DNA结构正常",55666,"17qter","NM_017921"]
["32630A(747)v22529",2,2,1,"32630A","NR3C1","chr5:142783015-142783016","c.-254(exon1)_c.-253(exon1)insG","非编码区","rs10482610",{"$nulls":6},"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",18854398,"广泛性糖皮质激素抵抗","AD",615962,3,1,2,1,"NR3C1",1,150,"非编码区",2430,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",2908,"5q31.3","NM_000176"]
["32630A(747)v22561",109,109,1,"32630A","NRCAM","chr7:107838464","c.1287C>A(exon14)","p.V429V","rs381318",0.66,0.88,0.88,0.87,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"NRCAM",1,190,"同义",13203,"1.0000=127/127","位于基因组单拷贝区域+DNA结构正常",4897,"7q31","NM_001193582"]
["32630A(747)v22593",57,57,1,"32630A","NRP2","chr2:206581033","c.368G>A(exon3)","p.R123K","rs849541",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NRP2",1,130,"非同义",12230,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",8828,"2q33.3","NM_201266"]
["32630A(747)v22608",34,34,1,"32630A","NSFL1C","chr20:1424303","c.*91C>T(exon10)","非编码区","rs6891",0.48,0.82,0.81,0.83,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NSFL1C",0.99,96,"非编码区",14200,"1.0000=40/40","位于基因组多拷贝区域+DNA结构正常",55968,"20p13","NM_001206736"]
["32630A(747)v22657",3,3,1,"32630A","NT5DC1","chr6:116565504","c.*317G>A(exon12)","非编码区","rs2235980",0.39,0.64,0.59,0.69,0.88,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"NT5DC1",1,210,"非编码区",14200,"1.0000=4/4","位于基因组多拷贝区域+DNA结构正常",221294,"6q22.1","NM_152729"]
["32630A(747)v22707",106,60,0.566,"32630A","NUDT13","chr10:74886598","c.858+13C>G(exon8)","非编码区","rs7072086",0.29,0.38,0.39,0.37,null,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NUDT13",1,140,"非编码区",16203,"0.5039=65/129","位于基因组单拷贝区域+DNA结构正常",25961,"10q22.1","NM_015901"]
["32630A(747)v22730",235,235,1,"32630A","NUF2","chr1:163313568","c.715A>C(exon10)","p.S239R","rs16852767",0.032,0.024,0.029,0.019,0.035,0.035,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"NUF2",1,300,"非同义",12120,"1.0000=268/268","位于基因组单拷贝区域+DNA结构正常",83540,"1q23.3","NM_145697"]
["32630A(747)v22805",53,53,1,"32630A","NUPL1","chr13:25876011","c.100G>A(exon1)","p.A34T","rs11556093",0.37,0.59,0.59,0.59,0.58,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"NUPL1",1,230,"非同义",12220,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",9818,"13q12.13","NM_014089"]
["32630A(747)v22847",40,40,1,"32630A","OAS1","chr12:113357193","c.1039-1G>A(exon6)","剪切位点","rs10774671",0.61,0.74,0.79,0.69,0.66,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","2573556;15732009;16014697;16644715;18518984","新生儿糖尿病（胰岛素抵抗型）","AR",222100,5,1,5,1,"OAS1",1,110,"剪切位点",16204,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",4938,"12q24.2","NM_016816","rs10774671|\"Viral_infection_susceptibility_association_with\"|15732009","rs10774671|risk factor|NA|OMIM:164350.0001|no assertion criteria provided|PubMed:2573556"]
["32630A(747)v22862",33,33,1,"32630A","OAS3","chr12:113385918","c.1029+14C>T(exon5)","非编码区","rs7961861",0.67,0.9,0.93,0.86,0.89,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"OAS3",1,78,"非编码区",16203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",4940,"12q24.2","NM_006187"]
["32630A(747)v22893",27,27,1,"32630A","OBSL1","chr2:220420956","c.4395T>C(exon14)","p.D1465D","rs10932816",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"3-M高椎体骨发育不全综合征2型",null,612921,5,1,12,1,"OBSL1",0.99,43,"同义",13203,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",23363,"2q35","NM_015311"]
["32630A(747)v22932",72,72,1,"32630A","ODF2","chr9:131235321","c.639A>G(exon9)","p.T213T","rs4512487",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ODF2",0.93,110,"同义",13202,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",4957,"9q34.11","NM_002540"]
["32630A(747)v22984",107,107,1,"32630A","OPA1","chr3:193355074","c.1035+4T>C(exon10)","非编码区","rs166850",0.92,0.95,0.94,0.96,0.96,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;18079692;19754948","正常眼压性青光眼",null,606657,5,1,2,3,"OPA1",1,270,"非编码区",16202,"1.0000=128/128","位于基因组单拷贝区域+DNA结构正常",4976,"3q28-q29","NM_130837",null,"rs166850|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32630A(747)v23033",157,157,1,"32630A","OR10G4","chr11:123886984","c.703A>G(exon1)","p.R235G","rs4936880",0.43,0.37,0.4,0.34,0.36,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24316890,{"$nulls":3},5,null,10,0,"OR10G4",1,230,"非同义",12210,"1.0000=182/182","位于基因组多拷贝区域+DNA结构正常",390264,"11q24.1","NM_001004462","ARG235GLY|\"Altered_receptor_function\"|24316890"]
["32630A(747)v23072",115,49,0.4261,"32630A","OR10T2","chr1:158368541","c.716T>C(exon1)","p.V239A","rs34465440",0.37,0.24,0.22,0.26,0.25,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OR10T2",1,120,"非同义",12220,"0.4297=55/128","位于基因组多拷贝区域+DNA结构正常",128360,"1q23.1","NM_001004475"]
["32630A(747)v23108",150,70,0.4667,"32630A","OR13C2","chr9:107367132","c.777C>T(exon1)","p.Y259Y","rs10820679",0.24,0.39,0.42,0.36,0.44,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"OR13C2",1,310,"同义",13203,"0.4598=80/174","位于基因组多拷贝区域+DNA结构正常",392376,"9q31.1","NM_001004481"]
["32630A(747)v23129",69,69,1,"32630A","OR13C8","chr9:107331504","c.56C>A(exon1)","p.A19D","rs7026705",0.65,0.95,0.95,0.95,0.95,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR13C8",1,96,"非同义",12220,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",138802,"9q31.1","NM_001004483"]
["32630A(747)v23183",61,61,1,"32630A","OR1F1","chr16:3254972","c.726T>C(exon1)","p.G242G","rs2075851",0.39,0.58,0.66,0.49,0.57,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR1F1",1,65,"同义",13203,"1.0000=66/66","位于基因组多拷贝区域+DNA结构正常",4992,"16p13.3","NM_012360"]
["32630A(747)v23240",84,44,0.5238,"32630A","OR2AG1","chr11:6807163","c.895C>G(exon1)","p.R299G","rs2659879",0.2,0.19,0.16,0.22,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"OR2AG1",1,130,"非同义",12220,"0.5100=51/100","位于基因组多拷贝区域+DNA结构正常",144125,"11p15.4","NM_001004489"]
["32630A(747)v23258",88,53,0.6023,"32630A","OR2D2","chr11:6913127","c.605T>C(exon1)","p.M202T","rs2741804",0.38,0.43,0.42,0.44,0.43,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR2D2",1,130,"非同义",12210,"0.5789=55/95","位于基因组单拷贝区域+DNA结构正常",120776,"11p15.4","NM_003700"]
["32630A(747)v23315",43,43,1,"32630A","OR2T11","chr1:248789504","c.926A>G(exon1)","p.Q309R","rs1892442",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR2T11",1,89,"非同义",12220,"1.0000=46/46","位于基因组单拷贝区域+DNA结构正常",127077,"1q44","NM_001001964"]
["32630A(747)v23360",196,71,0.3622,"32630A","OR2T4","chr1:248525330","c.448A>G(exon1)","p.M150V","rs56721857",0.27,0.39,0.38,0.4,0.43,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"OR2T4",1,230,"非同义",12210,"0.3694=82/222","位于基因组多拷贝区域+DNA结构正常",127074,"1q44","NM_001004696"]
["32630A(747)v23390",57,28,0.4912,"32630A","OR2W3","chr1:248059476","c.588A>C(exon1)","p.E196D","rs12139390",0.58,0.57,0.58,0.57,0.52,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OR2W3",1,73,"非同义",12210,"0.4615=30/65","位于基因组单拷贝区域+DNA结构正常",343171,"1q44","NM_001001957"]
["32630A(747)v23417",115,40,0.3478,"32630A","OR4C3","chr11:48346541","c.49A>T(exon1)","p.T17S","rs75498992",{"$nulls":4},0.45,0.18,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"OR4C3",1,150,"非同义",12320,"0.3206=42/131","位于基因组单拷贝区域+DNA结构正常",256144,"11p11.2","NM_001004702"]
["32630A(747)v23465",106,106,1,"32630A","OR4K17","chr14:20586042","c.477G>C(exon1)","p.K159N","rs8005245",0.43,0.57,0.6,0.53,0.57,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR4K17",1,130,"非同义",12210,"1.0000=125/125","位于基因组多拷贝区域+DNA结构正常",390436,"14q11.2","NM_001004715"]
["32630A(747)v23515",131,78,0.5954,"32630A","OR51G1","chr11:4945229","c.341C>T(exon1)","p.S114L","rs10836954",0.072,0.21,0.23,0.18,0.21,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR51G1",1,130,"非同义",12210,"0.6250=90/144","位于基因组单拷贝区域+DNA结构正常",79324,"11p15.4","NM_001005237"]
["32630A(747)v23578",103,51,0.4951,"32630A","OR56A3","chr11:5968728","c.152T>C(exon1)","p.M51T","rs1840178",0.56,0.7,0.67,0.73,0.64,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR56A3",1,84,"非同义",12220,"0.5000=56/112","位于基因组多拷贝区域+DNA结构正常",390083,"11p15.4","NM_001003443"]
["32630A(747)v23597",90,47,0.5222,"32630A","OR5B2","chr11:58190112","c.623T>C(exon1)","p.V208A","rs10466659",0.22,0.16,0.15,0.18,0.18,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"OR5B2",1,110,"非同义",12220,"0.5155=50/97","位于基因组单拷贝区域+DNA结构正常",390190,"11q12.1","NM_001005566"]
["32630A(747)v23644",102,52,0.5098,"32630A","OR5M3","chr11:56237410","c.564T>C(exon1)","p.A188A","rs617315",0.15,0.13,0.14,0.13,0.12,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR5M3",1,120,"同义",13203,"0.4914=57/116","位于基因组多拷贝区域+DNA结构正常",219482,"11q12.1","NM_001004742"]
["32630A(747)v23672",81,41,0.5062,"32630A","OR6B2","chr2:240969312","c.535T>C(exon1)","p.C179R","rs10187574",0.28,0.45,0.47,0.43,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR6B2",1,180,"非同义",12210,"0.5116=44/86","位于基因组多拷贝区域+DNA结构正常",389090,"2q37.3","NM_001005853"]
["32630A(747)v23742",93,59,0.6344,"32630A","OR7G2","chr19:9213927","c.56T>A(exon1)","p.I19N","rs144836316",0.0016,0.014,0.024,0.0049,0.014,0.016,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"OR7G2",1,140,"非同义",12120,"0.6327=62/98","位于基因组单拷贝区域+DNA结构正常",390882,"19p13.2","NM_001005193"]
["32630A(747)v23785",132,132,1,"32630A","OR8H3","chr11:55890257","c.409C>T(exon1)","p.P137S","rs1842691",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR8H3",1,220,"非同义",12220,"1.0000=165/165","位于基因组多拷贝区域+DNA结构正常",390152,"11q12.1","NM_001005201"]
["32630A(747)v23799",120,31,0.2583,"32630A","OR8U1","chr11:56143156","c.57C>T(exon1)","p.D19D","rs11228165",0.46,0.65,0.66,0.64,0.68,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,81,0,"OR8U1",1,150,"同义",13203,"0.2593=35/135","位于基因组单拷贝区域+DNA结构正常",219417,"11q12.1","NM_001005204"]
["32630A(747)v23860",63,11,0.1746,"32630A","OR8U1","chr11:56143785-56143786","c.686(exon1)_c.686(exon1)delAT","p.H229Lfs*52","rs758139791",{"$nulls":5},0.34,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,81,0,"OR8U1",1,150,"移码",2130,"0.1867=14/75","位于基因组单拷贝区域+DNA结构正常",219417,"11q12.1","NM_001005204"]
["32630A(747)v23901",168,45,0.2679,"32630A","OR9G1","chr11:56468637","c.774C>T(exon1)","p.Y258Y","rs76884192",{"$nulls":4},0.45,0.48,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,30,0,"OR9G1",1,180,"同义",13303,"0.2812=54/192","位于基因组多拷贝区域+DNA结构正常",390174,"11q12.1","NM_001005213"]
["32630A(747)v23932",16,10,0.625,"32630A","ORC5","chr7:103848482","c.-130A>C(exon1)","非编码区","rs3087358",0.52,0.53,0.52,0.55,0.58,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ORC5",1,260,"非编码区",14200,"0.6111=11/18","位于基因组单拷贝区域+DNA结构正常",5001,"7q22.1","NM_002553"]
["32630A(747)v23989",147,147,1,"32630A","OTOGL","chr12:80747242","c.5518A>G(exon45)","p.I1840V","rs7297767",0.83,0.81,0.81,0.82,0.8,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传耳聋84B型","AR",614944,5,1,10,1,"OTOGL",0.99,200,"非同义",12220,"1.0000=163/163","位于基因组单拷贝区域+DNA结构正常",283310,"12q21.31","NM_173591"]
["32630A(747)v24023",152,151,0.9934,"32630A","OVCH1","chr12:29604392","c.2641G>C(exon22)","p.A881P","rs1347570",0.51,0.45,0.48,0.42,0.44,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"OVCH1",1,170,"非同义",12220,"0.9942=172/173","位于基因组单拷贝区域+DNA结构正常",341350,"12p11.22","NM_183378"]
["32630A(747)v24064",52,52,1,"32630A","OVOS","chr12:9711954","c.2902+10A>T(exon21)","非编码区","rs2536846",null,1,1,1,null,null,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,8,0,"OVOS",null,null,"非编码区",16303,"1.0000=60/60","位于基因组多拷贝区域+DNA结构正常",408186,"12p13","XM_001715897"]
["32630A(747)v24084",10,4,0.4,"32630A","P2RX2","chr12:133195580-133195593","c.173+5(exon1)_c.173+18(exon1)delGCGGGGCGCGGGGT","非编码区","rs200710959",0.5,0.56,0.59,0.54,0.011,0.82,"杂合","未知","内含子突变",null,"常染色体显性遗传耳聋41型","AD",608224,4,1,3,1,"P2RX2",1,58,"非编码区",2500,"0.3636=4/11","位于基因组单拷贝区域+DNA结构正常",22953,"12q24.33","NM_170683"]
["32630A(747)v24139",105,13,0.1238,"32630A","PABPC1","chr8:101717832","c.1672C>G(exon12)","p.Q558E","rs75035099",{"$nulls":4},0.048,0.26,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,30,0,"PABPC1",1,170,"非同义",12310,"0.1176=14/119","位于基因组单拷贝区域+DNA结构正常",26986,"8q22.2-q23","NM_002568"]
["32630A(747)v24182",131,31,0.2366,"32630A","PABPC3","chr13:25671333-25671333","c.997(exon1)delA","p.K333Kfs*21","rs371570689",{"$nulls":6},"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,42,0,"PABPC3",1,220,"移码",2130,"0.2692=42/156","位于基因组多拷贝区域+DNA结构正常",5042,"13q12-q13","NM_030979"]
["32630A(747)v24214",50,19,0.38,"32630A","PADI3","chr1:17586134","c.154A>G(exon2)","p.I52V","rs3750300",0.13,0.16,0.15,0.17,0.18,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PADI3",1,93,"非同义",12220,"0.4000=24/60","位于基因组单拷贝区域+DNA结构正常",51702,"1p36.13","NM_016233"]
["32630A(747)v24278",181,88,0.4862,"32630A","PAM","chr5:102345546","c.2307A>C(exon20)","p.I769I","rs2230457",0.23,0.41,0.42,0.4,0.4,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PAM",1,200,"同义",13203,"0.4977=106/213","位于基因组单拷贝区域+DNA结构正常",5066,"5q14-q21","NM_000919"]
["32630A(747)v24283",136,136,1,"32630A","PAN3","chr13:28835527-28835528","c.1354-11(exon9)_c.1354-10(exon9)insC","非编码区","rs5802469",1,1,1,1,1,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,3,0,"PAN3",1,160,"非编码区",2500,"1.0000=156/156","位于基因组单拷贝区域+DNA结构正常",255967,"13q12.2","NM_175854"]
["32630A(747)v24340",3,3,1,"32630A","PARP11","chr12:3918475","c.*2814C>T(exon8)","非编码区","rs700481",0.64,0.73,0.74,0.71,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PARP11",1,180,"非编码区",14200,"1.0000=3/3","位于基因组多拷贝区域+DNA结构正常",57097,"12p13.3","NM_020367"]
["32630A(747)v24362",216,43,0.1991,"32630A","PARP4","chr13:25016762","c.3509C>T(exon29)","p.T1170I","rs113301501",{"$nulls":4},0.14,0.13,"杂合","可能相关","Provean软件蛋白结构预测可能有害",26699384,{"$nulls":3},2,null,17,0,"PARP4",1,160,"非同义",12310,"0.2140=52/243","位于基因组多拷贝区域+DNA结构正常",143,"13q11","NM_006437","THR1170ILE|\"Thyroid_and_breast_cancer\"|26699384"]
["32630A(747)v24407",59,30,0.5085,"32630A","PAX2","chr10:102568983","c.909A>C(exon7)","p.P303P","rs1800898",0.38,0.087,0.095,0.078,0.086,0.096,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,"Papillorenal综合征","AD",120330,5,1,3,3,"PAX2",1,89,"同义",13203,"0.5079=32/63","位于基因组单拷贝区域+DNA结构正常",5076,"10q24","NM_003988",null,"rs1800898|not provided|NA|NA|no assertion provided|NA"]
["32630A(747)v24439",2,2,1,"32630A","PCDH11X","chrX:91138564","c.*614G>A(exon6)","非编码区",{"$nulls":7},"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"PCDH11X",1,120,"非编码区",14400,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",27328,"Xq21.3","NM_032967"]
["32630A(747)v24451",139,139,1,"32630A","PCDH15","chr10:55955444","c.1319A>C(exon12)","p.D440A","rs4935502",0.35,0.83,0.81,0.85,0.85,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;16385451;19816713","常染色体隐性遗传耳聋23型","AR",609533,5,1,8,3,"PCDH15",1,170,"非同义",12210,"1.0000=161/161","位于基因组单拷贝区域+DNA结构正常",65217,"10q21.1","NM_001142771",null,"rs4935502|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266;ASP435ALA|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v24510",152,64,0.4211,"32630A","PCDHA9","chr5:140230371","c.2291A>C(exon1)","p.K764T","rs369639",0.63,0.45,0.4,0.5,0.47,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PCDHA9",1,170,"非同义",12220,"0.4431=74/167","位于基因组多拷贝区域+DNA结构正常",9752,"5q31","NM_014005"]
["32630A(747)v24552",127,67,0.5276,"32630A","PCDHB16","chr5:140564263","c.2129C>T(exon1)","p.A710V","rs17844666",0.27,0.53,0.53,0.52,0.48,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PCDHB16",1,130,"非同义",12210,"0.5188=83/160","位于基因组多拷贝区域+DNA结构正常",57717,"5q31","NM_020957"]
["32630A(747)v24568",29,8,0.2759,"32630A","PCDHB3","chr5:140482102","c.1869A>G(exon1)","p.E623E","rs3896009",{"$nulls":4},0.054,0.0083,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"PCDHB3",1,130,"同义",13303,"0.3125=10/32","位于基因组多拷贝区域+DNA结构正常",56132,"5q31","NM_018937"]
["32630A(747)v24627",142,83,0.5845,"32630A","PCDHGA7","chr5:140762993","c.527G>A(exon1)","p.R176H","rs72790024",0.072,0.038,0.043,0.034,0.036,0.042,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PCDHGA7",1,130,"非同义",12220,"0.5723=91/159","位于基因组多拷贝区域+DNA结构正常",56108,"5q31","NM_018920"]
["32630A(747)v24642",111,66,0.5946,"32630A","PCDHGB3","chr5:140751128","c.1167C>G(exon1)","p.N389K","rs2240697",0.56,0.32,0.31,0.33,0.34,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PCDHGB3",1,87,"非同义",12220,"0.5781=74/128","位于基因组单拷贝区域+DNA结构正常",56102,"5q31","NM_018924"]
["32630A(747)v24697",108,23,0.213,"32630A","PCMTD1","chr8:52733023","c.962A>G(exon6)","p.N321S","rs114725410",{"$nulls":4},0.49,0.12,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,12,0,"PCMTD1",1,210,"非同义",12320,"0.2348=27/115","位于基因组多拷贝区域+DNA结构正常",115294,"8q11.23","NM_052937"]
["32630A(747)v24756",4,4,1,"32630A","PCTP","chr17:53828706","c.-208C>G(exon1)","非编码区","rs890488",0.84,0.94,0.95,0.93,0.94,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PCTP",1,91,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",58488,"17q21-q24","NM_001102402"]
["32630A(747)v24789",146,146,1,"32630A","PDE1A","chr2:183088584","c.824+7C>T(exon7)","非编码区","rs3754929",0.73,0.75,0.78,0.71,0.72,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",14681825,{"$nulls":3},5,null,1,0,"PDE1A",0.97,180,"非编码区",16203,"1.0000=167/167","位于基因组单拷贝区域+DNA结构正常",5136,"2q32.1","NM_005019"]
["32630A(747)v24828",199,45,0.2261,"32630A","PDE4DIP","chr1:144867914","c.5518+7C>T(exon33)","非编码区","rs201368894",{"$nulls":4},0.016,0.012,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,80,0,"PDE4DIP",1,190,"非编码区",16303,"0.2165=50/231","位于基因组多拷贝区域+DNA结构正常",9659,"1q12","NM_014644"]
["32630A(747)v24846",114,56,0.4912,"32630A","PDE4DIP","chr1:144886092","c.3137+5G>A(exon23)","非编码区","rs1343472",{"$nulls":4},0.5,0.5,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,80,0,"PDE4DIP",1,190,"非编码区",16301,"0.4851=65/134","位于基因组单拷贝区域+DNA结构正常",9659,"1q12","NM_014644"]
["32630A(747)v24897",19,12,0.6316,"32630A","PDE6G","chr17:79617937-79617937","c.*167(exon4)delG","非编码区","rs58894371",null,0.19,0.19,0.18,0.061,0.35,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"视网膜色素变性57型-AR","AR",613582,3,3,3,1,"PDE6G",1,78,"非编码区",2430,"0.6316=12/19","位于基因组单拷贝区域+DNA结构正常",5148,"17q25","NM_002602"]
["32630A(747)v24930",38,25,0.6579,"32630A","PDHX","chr11:34937884","c.-319G>A(exon1)","非编码区","rs2956113",0.43,0.72,0.7,0.74,0.72,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"PDHX",1,200,"非编码区",14200,"0.6818=30/44","位于基因组单拷贝区域+DNA结构正常",8050,"11p13","NM_003477"]
["32630A(747)v24960",43,22,0.5116,"32630A","PDLIM4","chr5:131607588","c.775G>T(exon6)","p.G259C","rs4877",0.12,0.24,0.25,0.23,0.2,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"骨质疏松症","AD",166710,5,1,4,1,"PDLIM4",1,55,"非同义",12210,"0.4694=23/49","位于基因组单拷贝区域+DNA结构正常",8572,"5q31.1","NM_003687"]
["32630A(747)v25017",3,3,1,"32630A","PDZRN4","chr12:41582590","c.333G>C(exon1)","p.R111R","rs10879830",0.73,0.77,0.77,0.77,0.72,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PDZRN4",1,110,"同义",13203,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",29951,"12q12","NM_001164595"]
["32630A(747)v25055",26,13,0.5,"32630A","PER1","chr17:8046772","c.2884G>C(exon19)","p.A962P","rs2585405",0.77,0.56,0.6,0.52,0.53,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18990770;17984998;19166596;25201053",{"$nulls":3},5,null,3,0,"PER1",1,56,"非同义",12220,"0.5357=15/28","位于基因组单拷贝区域+DNA结构正常",5187,"17p13.1","NM_002616","ALA962PRO|\"Increased_sex_hormone-binding_globulin_levels\"|18990770"]
["32630A(747)v25081",75,75,1,"32630A","PEX2","chr8:77895865","c.550T>C(exon4)","p.C184R","rs10087163",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","Zellweger综合征，过氧化物酶体生成障碍5A型","AR",614866,5,1,1,2,"PEX2",1,110,"非同义",12230,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",5828,"8q21.1","NM_000318",null,"rs10087163|Benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v25141",3,3,1,"32630A","PGLYRP4","chr1:153302827","c.*416A>C(exon9)","非编码区","rs2570440",0.84,0.73,0.72,0.75,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PGLYRP4",1,130,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",57115,"1q21","NM_020393"]
["32630A(747)v25151",2,2,1,"32630A","PGPEP1L","chr15:99550998","c.-780T>A(exon1)","非编码区","rs2663111",null,0.95,0.92,0.98,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"PGPEP1L",0.96,76,"非编码区",14300,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",145814,"15q26.3","NM_001167902"]
["32630A(747)v25196",90,49,0.5444,"32630A","PHIP","chr6:79656570","c.4228C>T(exon37)","p.L1410L","rs2275290",0.28,0.22,0.21,0.22,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PHIP",1,180,"同义",13203,"0.5294=54/102","位于基因组单拷贝区域+DNA结构正常",55023,"6q14","NM_017934"]
["32630A(747)v25262",18,6,0.3333,"32630A","PIBF1","chr13:73590343-73590344","c.*286(exon18)_c.*287(exon18)insGTGA","非编码区","rs56219022",0.65,0.87,0.86,0.87,0.75,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PIBF1",1,270,"非编码区",2420,"0.3478=8/23","位于基因组单拷贝区域+简单重复结构",10464,"13q22.1","NM_006346"]
["32630A(747)v25290",99,50,0.5051,"32630A","PIEZO2","chr18:10696227","c.6696G>A(exon43)","p.P2232P","rs2277860",0.22,0.12,0.11,0.12,0.13,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"远端关节弯曲5型","AD",108145,5,1,11,3,"PIEZO2",1,150,"同义",13203,"0.5283=56/106","位于基因组单拷贝区域+DNA结构正常",63895,"18p11.22","NM_022068"]
["32630A(747)v25315",19,13,0.6842,"32630A","PIGH","chr14:68066971","c.-51C>G(exon1)","非编码区","rs12587848",0.2,0.3,0.32,0.29,0.29,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PIGH",1,100,"非编码区",14200,"0.7143=15/21","位于基因组多拷贝区域+DNA结构正常",5283,"14q24.1","NM_004569"]
["32630A(747)v25330",53,29,0.5472,"32630A","PIGP","chr21:38444881","c.7C>T(exon1)","p.P3S","rs73200245",0.21,0.082,0.09,0.073,0.07,0.074,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PIGP",1,210,"非同义",12220,"0.5167=31/60","位于基因组单拷贝区域+DNA结构正常",51227,"21q22.2","NM_153681"]
["32630A(747)v25393",104,104,1,"32630A","PIKFYVE","chr2:209191082","c.3547C>A(exon20)","p.Q1183K","rs1529979",0.91,0.93,0.93,0.93,0.94,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Fleck角膜营养不良","AD",121850,5,1,13,1,"PIKFYVE",1,190,"非同义",12220,"1.0000=129/129","位于基因组单拷贝区域+DNA结构正常",200576,"2q34","NM_015040"]
["32630A(747)v25439",75,38,0.5067,"32630A","PITRM1","chr10:3180227","c.3113A>G(exon27)","p.Q1038R","rs6901",0.7,0.74,0.67,0.81,0.73,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,5,0,"PITRM1",1,160,"非同义",12220,"0.4938=40/81","位于基因组单拷贝区域+DNA结构正常",10531,"10p15.2","NM_001242307"]
["32630A(747)v25449",60,60,1,"32630A","PIWIL3","chr22:25145453","c.1252G>A(exon11)","p.V418M","rs1892723",0.93,0.95,0.96,0.95,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PIWIL3",1,180,"非同义",12220,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",440822,"22q11.23","NM_001008496"]
["32630A(747)v25513",75,73,0.9733,"32630A","PKD1L3","chr16:71981414-71981415","c.3694(exon22)_c.3695(exon22)insCAAA","p.R1232Tfs*502","rs149635567",{"$nulls":4},0.57,0.96,"纯合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,21,0,"PKD1L3",1,130,"移码",2130,"0.9762=82/84","位于基因组单拷贝区域+DNA结构正常",342372,"16q22.2","NM_181536"]
["32630A(747)v25547",209,96,0.4593,"32630A","PKHD1L1","chr8:110412519","c.1227G>A(exon13)","p.K409K","rs1379369",0.6,0.43,0.45,0.41,0.41,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"PKHD1L1",1,220,"同义",13203,"0.4523=109/241","位于基因组单拷贝区域+DNA结构正常",93035,"8q23","NM_177531"]
["32630A(747)v25582",15,14,0.9333,"32630A","PKN1","chr19:14561722","c.771A>G(exon6)","p.L257L","rs8107892",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PKN1",1,66,"同义",13203,"0.9375=15/16","位于基因组单拷贝区域+DNA结构正常",5585,"19p13.12","NM_002741"]
["32630A(747)v25643",62,7,0.1129,"32630A","PLA2G4D","chr15:42378405","c.387+6T>G(exon4)","非编码区","rs767261964",{"$nulls":4},0.024,0.064,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,9,0,"PLA2G4D",1,87,"非编码区",16301,"0.1045=7/67","位于基因组单拷贝区域+DNA结构正常",283748,"15q15.1","NM_178034"]
["32630A(747)v25651",103,46,0.4466,"32630A","PLA2G7","chr6:46672453-46672456","c.1190-23(exon12)_c.1190-20(exon12)delGATT","非编码区","rs148052037",0.27,0.58,0.55,0.61,0.46,0.57,"杂合","未知","内含子突变",null,"血小板活化因子乙酰水解酶缺陷症",null,614278,4,2,3,3,"PLA2G7",1,210,"非编码区",2500,"0.4609=53/115","位于基因组单拷贝区域+DNA结构正常",7941,"6p21.2-p12","NM_005084"]
["32630A(747)v25703",104,58,0.5577,"32630A","PLCD4","chr2:219501133","c.2182+18G>A(exon15)","非编码区","rs2278530",0.61,0.82,0.84,0.81,0.81,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PLCD4",1,100,"非编码区",16203,"0.5478=63/115","位于基因组单拷贝区域+DNA结构正常",84812,"2q35","NM_032726"]
["32630A(747)v25715",90,88,0.9778,"32630A","PLCG2","chr16:81954789","c.2236-14C>G(exon21)","非编码区","rs12446127",0.52,0.8,0.78,0.82,0.8,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性寒冷性自身炎症综合征3型","AD",614468,5,1,7,2,"PLCG2",1,120,"非编码区",16202,"0.9806=101/103","位于基因组单拷贝区域+DNA结构正常",5336,"16q24.1","NM_002661"]
["32630A(747)v25759",27,27,1,"32630A","PLEKHA7","chr11:17035718","c.117T>C(exon2)","p.H39H","rs61881311",0.71,0.96,0.96,0.96,0.94,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PLEKHA7",1,80,"同义",13203,"1.0000=29/29","位于基因组单拷贝区域+DNA结构正常",144100,"11p15.1","NM_175058"]
["32630A(747)v25795",119,119,1,"32630A","PLEKHG7","chr12:93147907","c.357A>T(exon6)","p.P119P","rs9669519",0.65,0.88,0.85,0.92,0.88,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PLEKHG7",1,210,"同义",13203,"1.0000=138/138","位于基因组单拷贝区域+DNA结构正常",440107,"12q22","NM_001004330"]
["32630A(747)v25830",24,24,1,"32630A","PLIN3","chr19:4847713","c.824T>C(exon6)","p.V275A","rs9973235",0.9,0.91,0.9,0.92,0.92,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18650832,{"$nulls":3},5,null,5,0,"PLIN3",1,49,"非同义",12220,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",10226,"19p13.3","NM_005817"]
["32630A(747)v25896",75,75,1,"32630A","PLXNA4","chr7:131815310","c.5613T>C(exon32)","p.D1871D","rs2671103",0.9,0.94,0.93,0.95,0.96,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"PLXNA4",1,100,"同义",13203,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",91584,"7q32.3","NM_020911"]
["32630A(747)v25904",60,30,0.5,"32630A","PLXNB1","chr3:48454468","c.4636+10G>A(exon24)","非编码区","rs3214041",0.35,0.3,0.28,0.33,0.36,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PLXNB1",1,53,"非编码区",16203,"0.5522=37/67","位于基因组单拷贝区域+DNA结构正常",5364,"3p21.31","NM_002673"]
["32630A(747)v25948",23,9,0.3913,"32630A","PMP22","chr17:15134115-15134119","c.*115(exon5)_c.*119(exon5)delCAAAC","非编码区","rs112829799",0.038,0.16,0.15,0.17,0.033,0.22,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"遗传性共济失调伴肌萎缩综合征","AD",180800,3,1,2,6,"PMP22",1,92,"非编码区",2410,"0.3793=11/29","位于基因组单拷贝区域+DNA结构正常",5376,"17p12","NM_000304"]
["32630A(747)v26002",9,9,1,"32630A","PNPLA2","chr11:824789","c.1442T>C(exon10)","p.L481P","rs1138693",0.65,0.64,0.65,0.64,0.64,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","25287355;19390624","中性脂质贮积症伴肌病","AR",610717,5,1,5,1,"PNPLA2",1,42,"非同义",12220,"1.0000=11/11","位于基因组单拷贝区域+DNA结构正常",57104,"11p15.5","NM_020376","rs1138693|\"Myopathy_late-onset\"|25287355"]
["32630A(747)v26018",63,63,1,"32630A","PNPLA6","chr19:7626014-7626014","c.3943+18(exon32)delC","非编码区","rs11307097",0.59,0.67,0.71,0.63,0.35,0.68,"纯合","未知","内含子突变",null,"遗传性痉挛性截瘫39型","AR",612020,4,1,3,2,"PNPLA6",1,55,"非编码区",2500,"1.0000=74/74","位于基因组单拷贝区域+简单重复结构",10908,"19p13.2","NM_001166111"]
["32630A(747)v26064",35,22,0.6286,"32630A","POFUT2","chr21:46685592","c.*1774G>C(exon8)","非编码区","rs1006887",0.75,0.82,0.86,0.79,0.76,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"POFUT2",1,110,"非编码区",14200,"0.5814=25/43","位于基因组单拷贝区域+DNA结构正常",23275,"21q22.3","NM_015227"]
["32630A(747)v26088",27,14,0.5185,"32630A","POLE4","chr2:75185856","c.50G>T(exon1)","p.G17V","rs12366",0.34,0.48,0.48,0.48,0.43,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25025429,{"$nulls":3},5,null,2,0,"POLE4",1,71,"非同义",12220,"0.5517=16/29","位于基因组单拷贝区域+DNA结构正常",56655,"2p12","NM_019896"]
["32630A(747)v26137",118,63,0.5339,"32630A","POLR1E","chr9:37501844","c.1100+3G>A(exon11)","非编码区","rs2296777",0.14,0.24,0.25,0.23,0.23,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"POLR1E",1,130,"非编码区",16202,"0.5180=72/139","位于基因组单拷贝区域+DNA结构正常",64425,"9p13.2","NM_022490"]
["32630A(747)v26181",88,88,1,"32630A","POLR3F","chr20:18464110","c.874-15T>C(exon9)","非编码区","rs3827965",0.82,0.8,0.81,0.78,null,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"POLR3F",1,190,"非编码区",16202,"1.0000=97/97","位于基因组单拷贝区域+DNA结构正常",10621,"20p11.23","NM_006466"]
["32630A(747)v26194",36,36,1,"32630A","POM121","chr7:72413874","c.2547T>C(exon14)","p.N849N","rs199633193",{"$nulls":4},0.48,0.26,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"POM121",1,170,"同义",13303,"1.0000=45/45","位于基因组多拷贝区域+DNA结构正常",9883,"7q11.23","NM_001257190"]
["32630A(747)v26227",19,9,0.4737,"32630A","POR","chr7:75614288","c.1248+12C>T(exon11)","非编码区","rs2286822",0.3,0.44,0.44,0.45,0.44,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甾类产生紊乱由于细胞色素P450氧化还原酶缺陷",null,613571,5,2,6,2,"POR",1,56,"非编码区",16203,"0.4737=9/19","位于基因组单拷贝区域+DNA结构正常",5447,"7q11.2","NM_000941"]
["32630A(747)v26260",229,81,0.3537,"32630A","POTEH","chr22:16287851","c.35C>T(exon1)","p.S12F","rs72485235",{"$nulls":4},0.19,0.23,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,6,0,"POTEH",1,840,"非同义",12320,"0.3288=96/292","位于基因组多拷贝区域+DNA结构正常",23784,"22q11.1","NM_001136213"]
["32630A(747)v26299",142,48,0.338,"32630A","PPA2","chr4:106290829-106290830","c.*52(exon12)_c.*53(exon12)insACTCTTTTTCCCCAAG","非编码区","rs11267164",0.35,0.46,0.41,0.5,0.044,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PPA2",1,210,"非编码区",2420,"0.3563=62/174","位于基因组单拷贝区域+DNA结构正常",27068,"4q25","NM_176869"]
["32630A(747)v26354",3,3,1,"32630A","PPIL6","chr6:109712737","c.*1292C>G(exon9)","非编码区","rs746794",0.57,0.53,0.54,0.53,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PPIL6",1,210,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",285755,"6q21","NM_001111298"]
["32630A(747)v26387",93,63,0.6774,"32630A","PPP1R15A","chr19:49376584","c.94G>A(exon2)","p.A32T","rs3786734",0.06,0.15,0.13,0.17,0.17,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PPP1R15A",1,100,"非同义",12210,"0.6944=75/108","位于基因组单拷贝区域+DNA结构正常",23645,"19q13.2","NM_014330"]
["32630A(747)v26429",22,9,0.4091,"32630A","PPP2CA","chr5:133561589","c.-37C>G(exon1)","非编码区","rs3863186",{"$nulls":4},0.54,0.55,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"PPP2CA",1,170,"非编码区",14300,"0.4000=10/25","位于基因组单拷贝区域+DNA结构正常",5515,"5q31.1","NM_002715"]
["32630A(747)v26489",25,25,1,"32630A","PQBP1","chrX:48759204","c.180-3C>T(exon3)","非编码区","rs741932",null,0.68,0.72,0.65,0.71,0.76,"半合子","未知","剪切位点预测结果为无害",23757202,"Renpenning综合征1型","XR",309500,4,1,1,1,"PQBP1",1,54,"非编码区",16302,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",10084,"Xp11.23","NM_005710",null,"rs741932|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v26504",33,17,0.5152,"32630A","PRAMEF12","chr1:12837840","c.*98G>C(exon3)","非编码区","rs848577",0.66,0.75,0.74,0.77,0.74,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PRAMEF12",1,210,"非编码区",14200,"0.5250=21/40","位于基因组多拷贝区域+DNA结构正常",390999,"1p36.21","NM_001080830"]
["32630A(747)v26546",104,68,0.6538,"32630A","PRB3","chr12:11420334-11420334","c.723(exon4)delC","p.P241Pfs*70","rs3842295",0.82,0.66,0.66,0.66,0.11,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PRB3",1,250,"移码",2120,"0.6667=78/117","位于基因组多拷贝区域+DNA结构正常",5544,"12p13.2","NM_006249"]
["32630A(747)v26579",135,62,0.4593,"32630A","PRDM2","chr1:14105298","c.1008G>A(exon8)","p.E336E","rs1203678",0.32,0.39,0.4,0.39,0.4,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PRDM2",1,110,"同义",13203,"0.4768=72/151","位于基因组单拷贝区域+DNA结构正常",7799,"1p36.21","NM_012231"]
["32630A(747)v26642",34,20,0.5882,"32630A","PRIMA1","chr14:94245649","c.102T>C(exon3)","p.H34H","rs4905087",0.59,0.27,0.3,0.25,0.29,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PRIMA1",1,61,"同义",13203,"0.5676=21/37","位于基因组单拷贝区域+DNA结构正常",145270,"14q32.12","NM_178013"]
["32630A(747)v26680",152,72,0.4737,"32630A","PRKCQ","chr10:6533625","c.790+20A>T(exon8)","非编码区","rs527611",0.34,0.43,0.43,0.42,null,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PRKCQ",1,160,"非编码区",16203,"0.4624=80/173","位于基因组单拷贝区域+DNA结构正常",5588,"10p15","NM_006257"]
["32630A(747)v26699",23,23,1,"32630A","PRM2","chr16:11369534","c.*223C>T(exon2)","非编码区","rs424908",0.97,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PRM2",1,41,"非编码区",14200,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",5620,"16p13.2","NM_002762"]
["32630A(747)v26739",31,15,0.4839,"32630A","PROM1","chr4:16020162","c.759G>A(exon8)","p.A253A","rs2286455",0.14,0.2,0.18,0.21,0.23,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24787949;25469008","视锥-视杆细胞营养不良12型",null,612657,5,2,5,4,"PROM1",1,170,"同义",13202,"0.4688=15/32","位于基因组单拷贝区域+DNA结构正常",8842,"4p15.32","NM_001145847"]
["32630A(747)v26742",13,13,1,"32630A","PROM2","chr2:95944902-95944903","c.1274+10(exon10)_c.1274+11(exon10)insC","非编码区","rs61086044",null,1,1,1,0.52,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"PROM2",1,58,"非编码区",2500,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",150696,"2q11.1","NM_001165978"]
["32630A(747)v26776",71,71,1,"32630A","PRPH2","chr6:42666145","c.929G>A(exon3)","p.R310K","rs425876",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","中心性晕轮样脉络膜营养不良","AD",613105,5,1,5,5,"PRPH2",1,71,"非同义",12220,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",5961,"6p21.2-p12.3","NM_000322",null,"ARG310LYS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32630A(747)v26837",93,53,0.5699,"32630A","PRRC2C","chr1:171535573","c.6300+13T>C(exon21)","非编码区","rs2038041",0.13,0.29,0.25,0.33,0.26,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"PRRC2C",1,150,"非编码区",16203,"0.5619=59/105","位于基因组单拷贝区域+DNA结构正常",23215,"1q23.3","NM_015172"]
["32630A(747)v26861",9,3,0.3333,"32630A","PRSS22","chr16:2903047","c.*47C>G(exon6)","非编码区","rs1054912",0.76,0.63,0.68,0.58,0.57,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PRSS22",1,59,"非编码区",14200,"0.3333=3/9","位于基因组单拷贝区域+DNA结构正常",64063,"16p13.3","NM_022119"]
["32630A(747)v26907",26,26,1,"32630A","PRSS57","chr19:687142","c.428C>T(exon4)","p.P143L","rs8102982",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PRSS57",1,56,"非同义",12230,"1.0000=30/30","位于基因组单拷贝区域+DNA结构正常",400668,"19p13.3","NM_214710"]
["32630A(747)v26952",53,53,1,"32630A","PSD4","chr2:113940839","c.806G>C(exon2)","p.G269A","rs4849167",0.52,0.57,0.52,0.61,0.58,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PSD4",1,78,"非同义",12210,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",23550,"2q13","NM_012455"]
["32630A(747)v26967",53,25,0.4717,"32630A","PSG1","chr19:43372037","c.*178C>G(exon5)","非编码区","rs3199707",0.25,0.41,0.41,0.42,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"PSG1",1,390,"非编码区",14200,"0.4426=27/61","位于基因组多拷贝区域+DNA结构正常",5669,"19q13.2","NM_006905"]
["32630A(747)v27024",71,29,0.4085,"32630A","PSMB8","chr6:32810443","c.395+6C>T(exon3)","非编码区","rs9276810",0.44,0.4,0.47,0.33,0.4,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"自身炎症,脂肪营养不良和皮肤病综合征","AR",256040,5,3,1,1,"PSMB8",0.64,36,"非编码区",16202,"0.4146=34/82","位于基因组单拷贝区域+DNA结构正常",5696,"6p21.3","NM_004159"]
["32630A(747)v27073",3,3,1,"32630A","PSMG4","chr6:3268242","c.*296G>A(exon4)","非编码区","rs4632936",0.81,0.64,0.63,0.65,0.68,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PSMG4",1,79,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",389362,"6p25.2","NM_001128592"]
["32630A(747)v27099",71,13,0.1831,"32630A","PSPH","chr7:56088907","c.-2C>G(exon4)","非编码区","rs201445503",{"$nulls":4},0.22,0.1,"杂合","未知","UTR突变可能影响蛋白翻译",null,"磷酸丝氨酸磷酸酶缺乏症",null,614023,3,2,21,1,"PSPH",1,140,"非编码区",14300,"0.1647=14/85","位于基因组单拷贝区域+DNA结构正常",5723,"7p11.2","NM_004577"]
["32630A(747)v27124",136,61,0.4485,"32630A","PTCH1","chr9:98239147","c.1306-8T>C(exon11)","非编码区","rs2277184",0.11,0.16,0.14,0.17,0.14,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"基底细胞痣综合征","AD",109400,5,1,7,3,"PTCH1",1,110,"非编码区",16202,"0.4650=73/157","位于基因组单拷贝区域+DNA结构正常",5727,"9q22.3","NM_001083602"]
["32630A(747)v27147",3,3,1,"32630A","PTEN","chr10:89623716","c.-511G>A(exon1)","非编码区","rs12573787",0.16,0.33,0.31,0.35,0.25,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17033968,"大头伴自闭综合症","AD",605309,5,1,3,11,"PTEN",1,230,"非编码区",14200,"1.0000=3/3","位于基因组多拷贝区域+DNA结构正常",5728,"10q23.3","NM_000314"]
["32630A(747)v27180",7,5,0.7143,"32630A","PTGR2","chr14:74351109","c.*229G>A(exon10)","非编码区","rs15799",0.5,0.57,0.55,0.58,0.61,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PTGR2",1,210,"非编码区",14200,"0.7500=6/8","位于基因组单拷贝区域+DNA结构正常",145482,"14q24.3","NM_152444"]
["32630A(747)v27190",115,63,0.5478,"32630A","PTK2B","chr8:27255263","c.162A>G(exon7)","p.K54K","rs1045512",0.32,0.23,0.24,0.22,0.24,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"PTK2B",1,91,"同义",13203,"0.5714=80/140","位于基因组单拷贝区域+DNA结构正常",2185,"8p21.1","NM_173174"]
["32630A(747)v27230",53,53,1,"32630A","PTPN6","chr12:7055860","c.-29T>C(exon1)","非编码区","rs2301262",null,0.79,0.78,0.81,0.77,0.77,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"PTPN6",1,75,"非编码区",14300,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",5777,"12p13","NM_080548"]
["32630A(747)v27300",110,56,0.5091,"32630A","PTPRQ","chr12:80889165-80889166","c.1428+15(exon12)_c.1428+16(exon12)insTTG","非编码区","rs145970310",null,0.38,0.38,0.39,0.19,0.44,"杂合","未知","内含子突变",null,"常染色体隐性遗传耳聋84A型","AR",613391,4,3,10,1,"PTPRQ",0.99,230,"非编码区",2500,"0.4926=67/136","位于基因组单拷贝区域+简单重复结构",374462,"12q21.2","NM_001145026"]
["32630A(747)v27319",65,36,0.5538,"32630A","PTPRT","chr20:40743829","c.3156+10T>C(exon23)","非编码区","rs2076248",0.56,0.55,0.57,0.52,null,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PTPRT",1,110,"非编码区",16203,"0.5135=38/74","位于基因组单拷贝区域+DNA结构正常",11122,"20q12-q13","NM_133170"]
["32630A(747)v27356",110,60,0.5455,"32630A","PVALB","chr22:37196971","c.305-9G>T(exon5)","非编码区","rs2001063",0.5,0.67,0.67,0.67,0.71,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PVALB",1,75,"非编码区",16202,"0.5714=68/119","位于基因组单拷贝区域+DNA结构正常",5816,"22q13.1","NM_002854"]
["32630A(747)v27390",70,70,1,"32630A","PXMP4","chr20:32295541","c.610G>A(exon4)","p.V204I","rs910397",0.63,0.79,0.78,0.81,0.76,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PXMP4",1,87,"非同义",12220,"1.0000=79/79","位于基因组单拷贝区域+DNA结构正常",11264,"20q11.22","NM_007238"]
["32630A(747)v27453",215,114,0.5302,"32630A","QRICH2","chr17:74288262","c.2048A>G(exon4)","p.H683R","rs3826286",0.48,0.54,0.5,0.58,0.55,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"QRICH2",1,98,"非同义",12220,"0.5095=134/263","位于基因组多拷贝区域+DNA结构正常",84074,"17q25.1","NM_032134"]
["32630A(747)v27506",5,5,1,"32630A","RAB11FIP4","chr17:29859016","c.*266G>A(exon15)","非编码区","rs1992",0.25,0.35,0.3,0.39,0.32,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"RAB11FIP4",1,81,"非编码区",14200,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",84440,"17q11.2","NM_032932"]
["32630A(747)v27510",49,49,1,"32630A","RAB15","chr14:65419293","c.125-4T>C(exon2)","非编码区","rs45454295",0.37,0.69,0.7,0.67,0.65,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RAB15",1,71,"非编码区",16202,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",376267,"14q23.3","NM_198686"]
["32630A(747)v27579",8,8,1,"32630A","RAC1","chr7:6442156","c.*79C>A(exon7)","非编码区","rs2303367",0.71,0.87,0.88,0.86,0.88,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RAC1",1,130,"非编码区",14200,"1.0000=11/11","位于基因组多拷贝区域+DNA结构正常",5879,"7p22","NM_018890"]
["32630A(747)v27604",4,3,0.75,"32630A","RAD9A","chr11:67165217-67165218","c.*187(exon11)_c.*188(exon11)insCT","非编码区","rs3832777",0.1,0.12,0.14,0.11,0.02,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RAD9A",1,45,"非编码区",2420,"0.7500=3/4","位于基因组单拷贝区域+DNA结构正常",5883,"11q13.1-q13.2","NM_004584"]
["32630A(747)v27637",5,5,1,"32630A","RANBP17","chr5:170288922","c.-116A>G(exon1)","非编码区","rs11749349",0.84,0.86,0.86,0.85,0.93,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RANBP17",1,200,"非编码区",14200,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",64901,"5q34","NM_022897"]
["32630A(747)v27688",8,3,0.375,"32630A","RARRES2","chr7:150035459","c.*80A>C(exon6)","非编码区","rs1047586",0.26,0.26,0.27,0.25,0.26,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RARRES2",1,57,"非编码区",14200,"0.3750=3/8","位于基因组单拷贝区域+DNA结构正常",5919,"7q36.1","NM_002889"]
["32630A(747)v27714",107,71,0.6636,"32630A","RASGEF1B","chr4:82369205","c.654+18A>T(exon5)","非编码区","rs1077803",0.45,0.22,0.2,0.23,0.19,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RASGEF1B",1,170,"非编码区",16203,"0.6532=81/124","位于基因组单拷贝区域+DNA结构正常",153020,"4q21.21","NM_152545"]
["32630A(747)v27761",212,211,0.9953,"32630A","RB1CC1","chr8:53537316","c.4668T>C(exon23)","p.L1556L","rs1129660",0.29,0.68,0.65,0.71,0.64,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乳腺癌，浸润性导管","AD",114480,5,1,4,1,"RB1CC1",1,150,"同义",13203,"0.9962=261/262","位于基因组单拷贝区域+DNA结构正常",9821,"8q11","NM_014781"]
["32630A(747)v27808",72,72,1,"32630A","RBM20","chr10:112590810","c.3452-9G>C(exon13)","非编码区","rs7070640",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1DD型 ",null,613172,5,1,3,1,"RBM20",1,100,"非编码区",16202,"1.0000=77/77","位于基因组单拷贝区域+DNA结构正常",282996,"10q25.2","NM_001134363",null,"rs7070640|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v27832",20,20,1,"32630A","RBM46","chr4:155749384","c.*165G>A(exon5)","非编码区","rs1392544",0.26,0.45,0.44,0.46,0.48,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RBM46",1,170,"非编码区",14200,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",166863,"4q32.1","NM_144979"]
["32630A(747)v27865",64,64,1,"32630A","RCBTB1","chr13:50108252","c.*6A>G(exon13)","非编码区","rs7317982",0.43,0.45,0.45,0.45,0.49,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"酒精依赖症",null,103780,5,1,5,1,"RCBTB1",1,130,"非编码区",14200,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",55213,"13q14","NM_018191"]
["32630A(747)v27901",31,29,0.9355,"32630A","RECQL4","chr8:145737286","c.3394+8C>T(exon19)","非编码区","rs756627",0.4,0.52,0.53,0.5,0.46,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"Rothmund-Thomson综合征","AR",268400,5,1,11,3,"RECQL4",1,42,"非编码区",16203,"0.9412=32/34","位于基因组单拷贝区域+DNA结构正常",9401,"8q24.3","NM_004260",null,"rs756627|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v27941",184,77,0.4185,"32630A","RELN","chr7:103389954","c.578-3T>C(exon6)","非编码区","rs607755",0.47,0.38,0.4,0.35,0.37,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;18599960","无脑回畸形2型","AR",257320,5,3,6,1,"RELN",1,170,"非编码区",16202,"0.4048=85/210","位于基因组单拷贝区域+DNA结构正常",5649,"7q22","NM_005045",null,"rs607755|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v27954",61,61,1,"32630A","REP15","chr12:27849796","c.301A>G(exon1)","p.N101D","rs929949",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"REP15",1,97,"非同义",12220,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",387849,"12p11.22","NM_001029874"]
["32630A(747)v27980",21,12,0.5714,"32630A","RET","chr10:43623812","c.*95C>T(exon20)","非编码区","rs17028",0.14,0.23,0.22,0.24,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20532249,"家族性甲状腺髓样癌","AD",155240,5,1,6,7,"RET",1,74,"非编码区",14200,"0.6087=14/23","位于基因组单拷贝区域+DNA结构正常",5979,"10q11.2","NM_020975"]
["32630A(747)v28032",195,105,0.5385,"32630A","RFX6","chr6:117243260","c.1383T>C(exon13)","p.T461T","rs7764347",0.34,0.43,0.45,0.41,0.37,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","MITCHELL-RILEY综合征","AR",615710,5,3,6,1,"RFX6",1,160,"同义",13203,"0.5238=121/231","位于基因组单拷贝区域+DNA结构正常",222546,"6q22.1","NM_173560",null,"rs7764347|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v28050",60,60,1,"32630A","RGL3","chr19:11526759","c.491C>T(exon5)","p.A164V","rs160838",0.64,0.63,0.64,0.61,0.65,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RGL3",1,62,"非同义",12220,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",57139,"19p13.2","NM_001161616"]
["32630A(747)v28089",67,32,0.4776,"32630A","RGS14","chr5:176795906","c.1038G>C(exon9)","p.L346L","rs138362437",0.0084,0.043,0.048,0.039,0.05,0.053,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RGS14",1,70,"同义",13103,"0.4353=37/85","位于基因组单拷贝区域+DNA结构正常",10636,"5q35.3","NM_006480"]
["32630A(747)v28125",135,135,1,"32630A","RHNO1","chr12:2997397","c.489G>A(exon3)","p.S163S","rs2907608",null,0.62,0.67,0.57,0.61,0.63,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RHNO1",1,120,"同义",13303,"1.0000=154/154","位于基因组单拷贝区域+DNA结构正常",83695,"12p13.33","NM_001257097"]
["32630A(747)v28191",24,24,1,"32630A","RIN1","chr11:66101974","c.1285+11G>A(exon6)","非编码区","rs3016317",0.75,0.84,0.85,0.83,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RIN1",1,43,"非编码区",16203,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",9610,"11q13.2","NM_004292"]
["32630A(747)v28236",116,50,0.431,"32630A","RMND1","chr6:151726300","c.*70C>G(exon12)","非编码区","rs1065310",0.003,0,0,0,0.64,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"联合氧化磷酸化缺陷11型","AR",614922,3,3,5,1,"RMND1",1,160,"非编码区",14100,"0.4000=52/130","位于基因组单拷贝区域+DNA结构正常",55005,"6q25.1","NM_017909"]
["32630A(747)v28283",48,23,0.4792,"32630A","RNF126","chr19:652238","c.193T>C(exon3)","p.L65L","rs11554788",0.28,0.079,0.071,0.087,0.078,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RNF126",1,54,"同义",13203,"0.4528=24/53","位于基因组单拷贝区域+DNA结构正常",55658,"19p13.3","NM_194460"]
["32630A(747)v28311",195,97,0.4974,"32630A","RNF17","chr13:25428002","c.3318C>A(exon25)","p.N1106K","rs3783082",0.12,0.21,0.21,0.22,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"RNF17",1,250,"非同义",12220,"0.4960=125/252","位于基因组单拷贝区域+DNA结构正常",56163,"13q12.12","NM_001184993"]
["32630A(747)v28368",43,25,0.5814,"32630A","RNF43","chr17:56448297","c.350G>A(exon3)","p.R117H","rs2257205",0.23,0.35,0.34,0.35,0.36,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20686608,{"$nulls":3},5,null,5,0,"RNF43",1,64,"非同义",12220,"0.6042=29/48","位于基因组单拷贝区域+DNA结构正常",54894,"17q22","NM_017763"]
["32630A(747)v28371",65,65,1,"32630A","RNF44","chr5:175956516","c.1136+8C>T(exon9)","非编码区","rs2241585",0.49,0.45,0.47,0.44,0.44,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RNF44",1,50,"非编码区",16203,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",22838,"5q35.2","NM_014901"]
["32630A(747)v28438",52,18,0.3462,"32630A","RP1L1","chr8:10467637","c.3971A>G(exon4)","p.E1324G","rs4240659",{"$nulls":4},0.27,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"隐匿性黄斑营养不良","AD",613587,3,1,22,1,"RP1L1",1,86,"非同义",12320,"0.3519=19/54","位于基因组单拷贝区域+DNA结构正常",94137,"8p23.1","NM_178857"]
["32630A(747)v28464",80,80,1,"32630A","RPAP1","chr15:41816190","c.2235-20A>C(exon17)","非编码区","rs2297378",0.54,0.34,0.35,0.33,0.36,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"RPAP1",1,82,"非编码区",16202,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",26015,"15q15.1","NM_015540"]
["32630A(747)v28505",59,19,0.322,"32630A","RPL7","chr8:74204653","c.124-13T>A(exon3)","非编码区","rs2070764",0.49,0.52,0.55,0.49,0.52,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17249369;18767499;20073261",{"$nulls":3},5,null,1,0,"RPL7",1,160,"非编码区",16201,"0.3582=24/67","位于基因组多拷贝区域+DNA结构正常",6129,"8q21.11","NM_000971"]
["32630A(747)v28558",58,29,0.5,"32630A","RPS6KB2","chr11:67200819","c.807C>T(exon10)","p.F269F","rs4930427",0.36,0.32,0.34,0.31,0.31,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20019842,{"$nulls":3},5,null,4,0,"RPS6KB2",1,57,"同义",13203,"0.5312=34/64","位于基因组单拷贝区域+DNA结构正常",6199,"11q13.2","NM_003952"]
["32630A(747)v28580",44,44,1,"32630A","RRAGB","chrX:55757777","c.378-20A>G(exon6)","非编码区","rs2296861",null,0.14,0.13,0.16,null,0.29,"半合子","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"RRAGB",1,110,"非编码区",16302,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",10325,"Xp11.21","NM_016656"]
["32630A(747)v28639",32,19,0.5938,"32630A","RRP7A","chr22:42908289","c.*627G>A(exon7)","非编码区","rs5758776",0.23,0.74,0.75,0.72,0.73,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"RRP7A",1,73,"非编码区",14200,"0.6061=20/33","位于基因组多拷贝区域+DNA结构正常",27341,"22q13.2","NM_015703"]
["32630A(747)v28685",74,74,1,"32630A","RTKN2","chr10:63958112","c.1385A>G(exon12)","p.H462R","rs3125734",0.59,0.93,0.92,0.93,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23028356,{"$nulls":3},5,null,4,0,"RTKN2",1,180,"非同义",12220,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",219790,"10q21.2","NM_145307","HIS462ARG|\"Rheumatoid_arthritis_susceptibility_to_association_with\"|23028356"]
["32630A(747)v28710",145,66,0.4552,"32630A","RTTN","chr18:67863745","c.833A>G(exon7)","p.N278S","rs77760128",0.0042,0.019,0.014,0.024,0.018,0.013,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"多小脑回伴癫痫发作","AR",614833,3,3,4,1,"RTTN",1,200,"非同义",12120,"0.4375=70/160","位于基因组单拷贝区域+DNA结构正常",25914,"18q22.2","NM_173630"]
["32630A(747)v28741",28,28,1,"32630A","RXFP4","chr1:155912486","c.986T>C(exon1)","p.L329S","rs2152051",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RXFP4",1,42,"非同义",12220,"1.0000=30/30","位于基因组单拷贝区域+DNA结构正常",339403,"1q22","NM_181885"]
["32630A(747)v28760",233,99,0.4249,"32630A","RYR2","chr1:237586384","c.849-8T>C(exon12)","非编码区","rs16835237",0.17,0.33,0.34,0.32,0.26,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;24978818","致心律失常性右室发育不良2","AD",600996,5,1,18,2,"RYR2",1,180,"非编码区",16202,"0.4453=118/265","位于基因组单拷贝区域+DNA结构正常",6262,"1q43","NM_001035",null,"rs16835237|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v28799",81,80,0.9877,"32630A","S100P","chr4:6698706","c.225A>C(exon2)","p.I75I","rs11733989",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"S100P",1,85,"同义",13203,"0.9889=89/90","位于基因组单拷贝区域+DNA结构正常",6286,"4p16","NM_005980"]
["32630A(747)v28817",51,51,1,"32630A","SACS","chr13:23907677","c.10338G>A(exon10)","p.Q3446Q","rs2737701",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","常染色体隐性遗传痉挛性共济失调6型/沙勒沃伊-萨格奈常染色体隐性遗传痉挛性共济失调","AR",270550,5,1,5,1,"SACS",1,110,"同义",13203,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",26278,"13q12","NM_014363",null,"rs2737701|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v28853",299,135,0.4515,"32630A","SAMD7","chr3:169654216","c.1131G>A(exon8)","p.P377P","rs9836170",0.11,0.17,0.15,0.18,0.15,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SAMD7",1,160,"同义",13203,"0.4663=166/356","位于基因组单拷贝区域+DNA结构正常",344658,"3q26.2","NM_182610"]
["32630A(747)v28929",100,40,0.4,"32630A","SBF2","chr11:9812236","c.4571-6C>T(exon34)","非编码区","rs2645029",0.8,0.69,0.67,0.72,0.71,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恰克-马利-杜斯氏症4B2型","AR",604563,5,3,3,1,"SBF2",1,180,"非编码区",16202,"0.3853=42/109","位于基因组单拷贝区域+DNA结构正常",81846,"11p15.4","NM_030962"]
["32630A(747)v28944",150,67,0.4467,"32630A","SCAF8","chr6:155116286-155116287","c.606+13(exon6)_c.606+14(exon6)delTC","非编码区","rs79232250",null,0.89,0.87,0.92,0.16,0.9,"杂合","未知","内含子突变",{"$nulls":4},4,null,1,0,"SCAF8",1,210,"非编码区",2500,"0.4303=71/165","位于基因组单拷贝区域+简单重复结构",22828,"6q25.1-q25.3","NM_014892"]
["32630A(747)v28982",93,44,0.4731,"32630A","SCCPDH","chr1:246890320","c.303+14C>G(exon2)","非编码区","rs78127097",0.054,0.087,0.086,0.087,0.11,0.097,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SCCPDH",1,220,"非编码区",16203,"0.4310=50/116","位于基因组单拷贝区域+DNA结构正常",51097,"1q44","NM_016002"]
["32630A(747)v29019",3,3,1,"32630A","SCGN","chr6:25701967-25701968","c.*404(exon11)_c.*405(exon11)insT","非编码区","rs397749026",null,1,1,1,0,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"SCGN",1,180,"非编码区",2430,"1.0000=3/3","位于基因组单拷贝区域+简单重复结构",10590,"6p22.3-p22.1","NM_006998"]
["32630A(747)v29058",221,219,0.991,"32630A","SCN2A","chr2:166170127","c.1035-3T>C(exon9)","非编码区","rs2121371",0.77,0.82,0.84,0.8,0.78,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"良性家族性婴儿癫痫/惊厥3型","AD",607745,5,1,1,2,"SCN2A",1,240,"非编码区",16202,"0.9922=254/256","位于基因组单拷贝区域+DNA结构正常",6326,"2q24.3","NM_021007",null,"rs2121371|Benign|NA|NA|criteria provided, single submitter|PubMed:18414213"]
["32630A(747)v29075",21,21,1,"32630A","SCN5A","chr3:38622467","c.3183A>G(exon17)","p.E1061E","rs7430407",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;26401487","家族性阵发性心室颤动1型",null,603829,5,1,3,8,"SCN5A",1,100,"同义",13203,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",6331,"3p21","NM_198056","rs7430407|\"Long_QT_syndrome\"|26401487","rs7430407|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v29087",93,37,0.3978,"32630A","SCN9A","chr2:167137120","c.2072-15G>A(exon14)","非编码区","rs4525717",0.19,0.36,0.4,0.33,0.33,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","早发性婴儿癫痫性脑病6型/Dravet综合征/婴儿重症肌阵挛癫痫","AD",607208,5,1,11,5,"SCN9A",1,230,"非编码区",16202,"0.3796=41/108","位于基因组单拷贝区域+DNA结构正常",6335,"2q24","NM_002977",null,"rs4525717|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v29094",26,12,0.4615,"32630A","SCNN1A","chr12:6457062","c.2164A>G(exon12)","p.T722A","rs2228576",0.74,0.51,0.48,0.54,0.47,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;10523338;18513389;19131662;19263529","支气管扩张症伴或不伴汗氯化物升高2型","AD",613021,5,1,2,2,"SCNN1A",1,73,"非同义",12220,"0.4615=12/26","位于基因组单拷贝区域+DNA结构正常",6337,"12p13","NM_001159576","rs2228576|\"Hypertension_reduced_risk_association_with\"|10523338;THR663ALA|\"Hypertension_reduced_risk_association_with\"|10523338","THR722ALA|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;rs2228576|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v29108",78,37,0.4744,"32630A","SCOC","chr4:141294814","c.124G>C(exon1)","p.V42L","rs2271430",0.12,0.21,0.25,0.18,0.2,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SCOC",1,210,"非同义",12220,"0.4773=42/88","位于基因组单拷贝区域+DNA结构正常",60592,"4q31.1","NM_001153484"]
["32630A(747)v29155",86,45,0.5233,"32630A","SDC3","chr1:31346199","c.1188C>T(exon5)","p.G396G","rs1539360",0.059,0.077,0.052,0.1,0.088,0.078,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",14606043,"肥胖（易感）","AR",601665,5,3,5,1,"SDC3",1,59,"同义",13203,"0.5169=46/89","位于基因组单拷贝区域+DNA结构正常",9672,"1pter-p22.3","NM_014654"]
["32630A(747)v29191",27,27,1,"32630A","SDPR","chr2:192711162","c.483+7T>G(exon1)","非编码区","rs4471838",0.91,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SDPR",1,71,"非编码区",16203,"1.0000=34/34","位于基因组单拷贝区域+DNA结构正常",8436,"2q32-q33","NM_004657"]
["32630A(747)v29216",8,8,1,"32630A","SEC14L3","chr22:30864897","c.-119T>A(exon6)","非编码区","rs5753162",0.78,0.86,0.81,0.9,0.8,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SEC14L3",1,120,"非编码区",14200,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",266629,"22q12.2","NM_001257378"]
["32630A(747)v29266",8,4,0.5,"32630A","SEH1L","chr18:12987243","c.*1992G>A(exon9)","非编码区","rs112381580",0.057,0.026,0.019,0.034,0.041,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SEH1L",1,190,"非编码区",14200,"0.5000=4/8","位于基因组单拷贝区域+DNA结构正常",81929,"18p11.21","NM_031216"]
["32630A(747)v29313",67,67,1,"32630A","SEMA6A","chr5:115813726","c.1552T>C(exon14)","p.Y518H","rs34966",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SEMA6A",1,130,"非同义",12230,"1.0000=77/77","位于基因组单拷贝区域+DNA结构正常",57556,"5q23.1","NM_020796"]
["32630A(747)v29339",54,54,1,"32630A","SEPN1","chr1:26138262","c.1173T>C(exon9)","p.P391P","rs760597",0.79,0.97,0.97,0.96,0.95,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"先天肌纤维不对称性肌病/先天性肌病伴肌型比例失调","AD",255310,5,1,3,2,"SEPN1",0.92,60,"同义",13203,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",57190,"1p36.13","NM_020451",null,"rs760597|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32630A(747)v29371",120,120,1,"32630A","SERAC1","chr6:158571501","c.249C>T(exon4)","p.D83D","rs6929274",0.71,0.73,0.74,0.72,0.73,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","3-甲基戊二酸血症伴耳聋、脑病和Leigh样综合征 ","AR",614739,5,1,2,1,"SERAC1",1,180,"同义",13203,"1.0000=139/139","位于基因组单拷贝区域+DNA结构正常",84947,"6q25.3","NM_032861",null,"rs6929274|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v29409",69,28,0.4058,"32630A","SERPINA5","chr14:95054176","c.477T>C(exon3)","p.P159P","rs6112",0.62,0.38,0.39,0.37,0.45,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"SERPINA5",1,96,"同义",13203,"0.4444=36/81","位于基因组单拷贝区域+DNA结构正常",5104,"14q32.1","NM_000624"]
["32630A(747)v29466",143,69,0.4825,"32630A","SERPINI2","chr3:167183057","c.803C>T(exon5)","p.A268V","rs140768667",0.0002,0.0024,0.0048,0,1E-3,1.2E-4,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,7,0,"SERPINI2",1,160,"非同义",12110,"0.4720=76/161","位于基因组单拷贝区域+DNA结构正常",5276,"3q26","NM_006217"]
["32630A(747)v29481",14,7,0.5,"32630A","SETBP1","chr18:42531184","c.1879C>T(exon4)","p.R627C","rs146193261",0.01,0.014,0.014,0.015,0.0094,0.015,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"常染色体显性遗传性精神发育迟滞29型","AD",616078,2,1,4,2,"SETBP1",1,95,"非同义",12110,"0.4667=7/15","位于基因组单拷贝区域+DNA结构正常",26040,"18q21.1","NM_015559"]
["32630A(747)v29526",110,53,0.4818,"32630A","SET","chr9:131455903","c.493-14C>T(exon6)","非编码区","rs4836618",0.85,0.9,0.93,0.87,0.88,0.91,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SET",0.96,170,"非编码区",16202,"0.5000=63/126","位于基因组多拷贝区域+DNA结构正常",6418,"9q34","NM_003011"]
["32630A(747)v29580",73,73,1,"32630A","SFTPD","chr10:81706324","c.92T>C(exon2)","p.M31T","rs721917",0.5,0.63,0.61,0.65,0.59,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;12032263;16846490;20018039;20448057",{"$nulls":3},5,null,2,0,"SFTPD",1,76,"非同义",12220,"1.0000=77/77","位于基因组单拷贝区域+DNA结构正常",6441,"10q22.2-q23.1","NM_003019","rs721917|\"Severe_RSV_infection_association_with\"|12032263","MET31THR|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32630A(747)v29600",137,68,0.4964,"32630A","SGIP1","chr1:67109335","c.392A>G(exon7)","p.K131R","rs7526812",0.28,0.31,0.3,0.33,0.29,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SGIP1",1,180,"非同义",12220,"0.4868=74/152","位于基因组单拷贝区域+DNA结构正常",84251,"1p31.3","NM_032291"]
["32630A(747)v29632",53,53,1,"32630A","SH2D2A","chr1:156784982","c.155A>G(exon3)","p.N52S","rs926103",0.59,0.81,0.77,0.86,0.81,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18554728,{"$nulls":3},5,null,2,0,"SH2D2A",1,59,"非同义",12220,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",9047,"1q21","NM_001161441"]
["32630A(747)v29706",43,29,0.6744,"32630A","SHANK2","chr11:70653144","c.1480C>T(exon13)","p.R494W",{"$nulls":5},0.00016,0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"自闭症,易感17型",null,613436,3,2,4,1,"SHANK2",0.99,76,"非同义",12430,"0.6939=34/49","位于基因组单拷贝区域+DNA结构正常",22941,"11q13.2","NM_012309"]
["32630A(747)v29722",11,11,1,"32630A","SHB","chr9:38068532","c.111T>C(exon1)","p.P37P","rs3750444",0.59,0.43,0.43,0.43,0.44,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"SHB",1,58,"同义",13203,"1.0000=11/11","位于基因组单拷贝区域+DNA结构正常",6461,"9p13.2","NM_003028"]
["32630A(747)v29776",94,18,0.1915,"32630A","SIGLEC11","chr19:50463693-50463694","c.461-16(exon3)_c.461-15(exon3)insA","非编码区","rs201127706",0.066,0.053,0.029,0.078,0.32,0,"杂合","未知","内含子突变",{"$nulls":4},4,null,3,0,"SIGLEC11",1,92,"非编码区",2500,"0.2054=23/112","位于基因组多拷贝区域+DNA结构正常",114132,"19q13.33","NM_052884"]
["32630A(747)v29820",103,103,1,"32630A","SIN3B","chr19:16976286","c.1545A>G(exon12)","p.L515L","rs773911",1,0.99,0.99,0.99,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SIN3B",0.97,74,"同义",13203,"1.0000=120/120","位于基因组单拷贝区域+DNA结构正常",23309,"19p13.11","NM_015260"]
["32630A(747)v29849",78,34,0.4359,"32630A","SIX4","chr14:61180657","c.1814A>C(exon3)","p.H605P","rs3742636",0.65,0.66,0.68,0.64,0.68,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SIX4",0.99,79,"非同义",12210,"0.4318=38/88","位于基因组单拷贝区域+DNA结构正常",51804,"14q23","NM_017420"]
["32630A(747)v29903",39,29,0.7436,"32630A","SLC11A1","chr2:219259732","c.1627G>A(exon15)","p.D543N","rs17235409",0.071,0.15,0.16,0.14,0.13,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16395392;16466030;15720714;17371589;18504650","结核分枝杆菌易感",null,607948,5,2,6,2,"SLC11A1",1,62,"非同义",11200,"0.6905=29/42","位于基因组单拷贝区域+DNA结构正常",6556,"2q35","NM_000578","ASP543ASN|\"Pulmonary_tuberculosis_increased_risk_association_with\"|16466030","ASP543ASN|risk factor|OMIM:610446|OMIM:600266.0002|no assertion criteria provided|PubMed:16395392","ASP543ASN|610446|600266.0002.1"]
["32630A(747)v29941",54,21,0.3889,"32630A","SLC14A1","chr18:43307246","c.10C>T(exon1)","p.R4W","rs11877062",0.4,0.5,0.52,0.48,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血型--KIDD 系统;  JK",null,111000,5,2,6,1,"SLC14A1",1,130,"非同义",12220,"0.3710=23/62","位于基因组单拷贝区域+DNA结构正常",6563,"18q11-q12","NM_001146037"]
["32630A(747)v29975",80,80,1,"32630A","SLC16A13","chr17:6943266","c.1266G>A(exon4)","p.G422G","rs4796576",0.56,0.75,0.77,0.73,0.74,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC16A13",1,56,"同义",13203,"1.0000=86/86","位于基因组单拷贝区域+DNA结构正常",201232,"17p13.1","NM_201566"]
["32630A(747)v30000",153,153,1,"32630A","SLC17A4","chr6:25779392","c.1470A>G(exon12)","p.K490K","rs9358890",0.19,0.51,0.52,0.51,0.52,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC17A4",1,150,"同义",13203,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",10050,"6p22.2","NM_005495"]
["32630A(747)v30043",174,174,1,"32630A","SLC22A10","chr11:63064823","c.555T>C(exon3)","p.I185I","rs576641",0.56,0.45,0.45,0.46,0.42,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SLC22A10",1,170,"同义",13203,"1.0000=203/203","位于基因组单拷贝区域+DNA结构正常",387775,"11q12.3","NM_001039752"]
["32630A(747)v30087",198,197,0.9949,"32630A","SLC22A24","chr11:62911079","c.173C>G(exon1)","p.T58S","rs1939748",0.75,0.93,0.91,0.94,0.94,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24800985,{"$nulls":3},5,null,6,0,"SLC22A24",1,210,"非同义",12210,"0.9957=230/231","位于基因组多拷贝区域+DNA结构正常",283238,"11q12.3","NM_001136506"]
["32630A(747)v30112",73,73,1,"32630A","SLC23A1","chr5:138713959","c.1273T>G(exon11)","p.S425A","rs6596474",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SLC23A1",1,96,"非同义",12230,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",9963,"5q31.2","NM_152685"]
["32630A(747)v30136",10,6,0.6,"32630A","SLC25A10","chr17:79687218","c.892G>A(exon11)","p.V298I","rs11150813",0.41,0.33,0.32,0.33,0.32,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SLC25A10",0.88,36,"非同义",12220,"0.6000=6/10","位于基因组单拷贝区域+DNA结构正常",1468,"17q25.3","NM_001270953"]
["32630A(747)v30171",125,54,0.432,"32630A","SLC25A30","chr13:45985583","c.-23A>C(exon2)","非编码区","rs12872200",0.077,0.084,0.071,0.097,0.11,0.097,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC25A30",1,170,"非编码区",14200,"0.4097=59/144","位于基因组单拷贝区域+DNA结构正常",253512,"13q14.13","NM_001010875"]
["32630A(747)v30224",11,4,0.3636,"32630A","SLC28A2","chr15:45567904","c.*193C>T(exon18)","非编码区","rs199771134",0.004,0.024,0.024,0.024,0.018,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"SLC28A2",1,140,"非编码区",14100,"0.3333=4/12","位于基因组多拷贝区域+DNA结构正常",9153,"15q15","NM_004212"]
["32630A(747)v30250",51,24,0.4706,"32630A","SLC2A4RG","chr20:62372706","c.282-17G>A(exon3)","非编码区","rs4809221",0.65,0.36,0.37,0.35,null,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"SLC2A4RG",1,42,"非编码区",16202,"0.4655=27/58","位于基因组单拷贝区域+DNA结构正常",56731,"20q13.33","NM_020062"]
["32630A(747)v30292",36,25,0.6944,"32630A","SLC34A2","chr4:25678396","c.*25G>T(exon13)","非编码区","rs3733545",0.32,0.52,0.51,0.53,0.54,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"睾丸微石症",null,610441,5,2,3,2,"SLC34A2",1,88,"非编码区",14200,"0.7179=28/39","位于基因组单拷贝区域+DNA结构正常",10568,"4p15.2","NM_001177999"]
["32630A(747)v30343",129,129,1,"32630A","SLC35G5","chr8:11189535","c.920T>C(exon1)","p.L307P","rs12681991",0.43,0.75,0.75,0.75,0.78,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SLC35G5",1,190,"非同义",12220,"1.0000=144/144","位于基因组多拷贝区域+DNA结构正常",83650,"8p23.1","NM_054028"]
["32630A(747)v30397",26,12,0.4615,"32630A","SLC39A13","chr11:47431703","c.58A>G(exon2)","p.T20A","rs61897432",0.076,0.048,0.033,0.063,0.035,0.033,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Ehlers-Danlos样综合征","AR",612350,5,3,3,1,"SLC39A13",1,56,"非同义",12220,"0.4483=13/29","位于基因组单拷贝区域+DNA结构正常",91252,"11p11.2","NM_152264"]
["32630A(747)v30434",54,54,1,"32630A","SLC44A2","chr19:10738639","c.204C>T(exon4)","p.D68D","rs3087969",0.79,0.64,0.63,0.64,0.66,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"SLC44A2",1,83,"同义",13203,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",57153,"19p13.1","NM_020428"]
["32630A(747)v30471",189,189,1,"32630A","SLC46A3","chr13:29275102","c.*532A>G(exon6)","非编码区","rs947027",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SLC46A3",1,190,"非编码区",14200,"1.0000=230/230","位于基因组单拷贝区域+DNA结构正常",283537,"13q12.3","NM_181785"]
["32630A(747)v30485",4,4,1,"32630A","SLC4A1","chr17:42327493","c.*333C>A(exon20)","非编码区","rs2072081",0.45,0.73,0.71,0.74,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Waldner血型",null,112010,5,1,4,9,"SLC4A1",1,86,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",6521,"17q21.31","NM_000342"]
["32630A(747)v30506",34,18,0.5294,"32630A","SLC4A5","chr2:74512883","c.401+17C>T(exon8)","非编码区","rs375403547",0.0002,0,0,0,null,0,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"SLC4A5",1,110,"非编码区",16103,"0.5143=18/35","位于基因组单拷贝区域+DNA结构正常",57835,"2p13","NM_133478"]
["32630A(747)v30557",77,77,1,"32630A","SLC5A6","chr2:27428877","c.579+17G>C(exon6)","非编码区","rs1275527",0.81,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC5A6",1,98,"非编码区",16203,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",8884,"2p23","NM_021095"]
["32630A(747)v30573",35,20,0.5714,"32630A","SLC6A16","chr19:49812123","c.1229+10G>A(exon7)","非编码区","rs186859566",0.0016,0.012,0.014,0.0097,0.019,0.0099,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,2,0,"SLC6A16",1,110,"非编码区",16103,"0.5385=21/39","位于基因组单拷贝区域+DNA结构正常",28968,"19q13.33","NM_014037"]
["32630A(747)v30621",45,45,1,"32630A","SLC7A4","chr22:21385843","c.259C>T(exon2)","p.L87L","rs2072549",0.21,0.38,0.38,0.38,0.34,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SLC7A4",1,47,"同义",13203,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",6545,"22q11.21","NM_004173"]
["32630A(747)v30664",117,117,1,"32630A","SLC9B1","chr4:103911069","c.99G>T(exon3)","p.Q33H","rs2715591",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SLC9B1",0,0,"非同义",12230,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",150159,"4q24","NM_139173"]
["32630A(747)v30696",118,117,0.9915,"32630A","SLCO1C1","chr12:20903757","c.1947T>C(exon15)","p.H649H","rs10841611",0.48,0.62,0.61,0.62,0.61,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SLCO1C1",1,210,"同义",13203,"0.9926=134/135","位于基因组单拷贝区域+DNA结构正常",53919,"12p12.2","NM_001145946"]
["32630A(747)v30721",161,91,0.5652,"32630A","SLCO6A1","chr5:101816104","c.393C>T(exon2)","p.G131G","rs6884141",0.19,0.3,0.3,0.3,0.33,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SLCO6A1",1,210,"同义",13203,"0.5585=105/188","位于基因组单拷贝区域+DNA结构正常",133482,"5q21.1","NM_173488"]
["32630A(747)v30771",58,58,1,"32630A","SMAD3","chr15:67457335","c.309A>G(exon2)","p.L103L","rs1065080",0.83,0.79,0.76,0.82,0.81,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18095113,"Loeys-Dietz综合征3型","AD",613795,5,1,1,1,"SMAD3",1,94,"同义",13203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",4088,"15q22.33","NM_005902",null,"rs1065080|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v30816",271,141,0.5203,"32630A","SMCHD1","chr18:2724930","c.2637A>T(exon21)","p.K879N","rs633422",0.21,0.2,0.2,0.19,0.19,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"面肩肱型肌营养不良症2型",null,158901,5,2,9,1,"SMCHD1",1,250,"非同义",12220,"0.5130=158/308","位于基因组单拷贝区域+DNA结构正常",23347,"18p11.32","NM_015295"]
["32630A(747)v30839",39,21,0.5385,"32630A","SMG6","chr17:2203057","c.990C>G(exon2)","p.N330K","rs200020527",0.0004,0.0024,0,0.0049,0.0027,1.5E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"SMG6",1,82,"非同义",12120,"0.5610=23/41","位于基因组单拷贝区域+DNA结构正常",23293,"17p13.3","NM_017575"]
["32630A(747)v30897",121,55,0.4545,"32630A","SMYD3","chr1:246021941","c.933A>G(exon10)","p.A311A","rs2362587",0.39,0.21,0.19,0.24,0.19,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SMYD3",1,150,"同义",13203,"0.4741=64/135","位于基因组单拷贝区域+DNA结构正常",64754,"1q44","NM_001167740"]
["32630A(747)v30942",43,19,0.4419,"32630A","SNN","chr16:11769963","c.48C>T(exon2)","p.I16I","rs1050069",0.26,0.27,0.26,0.28,0.25,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SNN",1,60,"同义",13203,"0.4783=22/46","位于基因组单拷贝区域+DNA结构正常",8303,"16p13","NM_003498"]
["32630A(747)v30968",9,5,0.5556,"32630A","SNW1","chr14:78184281-78184282","c.*149(exon14)_c.*150(exon14)insG","非编码区","rs138354053",null,0.017,0.019,0.015,0.036,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"SNW1",1,170,"非编码区",2430,"0.5833=7/12","位于基因组多拷贝区域+简单重复结构",22938,"14q24.3","NM_012245"]
["32630A(747)v30999",12,7,0.5833,"32630A","SNX24","chr5:122181225","c.-104G>A(exon1)","非编码区","rs2303048",0.31,0.45,0.51,0.4,0.42,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SNX24",1,240,"非编码区",14200,"0.6429=9/14","位于基因组单拷贝区域+DNA结构正常",28966,"5q23.2","NM_014035"]
["32630A(747)v31043",10,5,0.5,"32630A","SOCS3","chr17:76354380","c.*119A>C(exon2)","非编码区","rs2280148",0.075,0.22,0.25,0.19,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16402267;16685656;19083014",{"$nulls":3},5,null,1,0,"SOCS3",1,39,"非编码区",14200,"0.5000=5/10","位于基因组单拷贝区域+DNA结构正常",9021,"17q25.3","NM_003955"]
["32630A(747)v31097",93,93,1,"32630A","SORL1","chr11:121445084","c.3460+12T>C(exon24)","非编码区","rs1792126",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,7,1,"SORL1",1,110,"非编码区",16203,"1.0000=109/109","位于基因组单拷贝区域+DNA结构正常",6653,"11q23.2-q24.2","NM_003105"]
["32630A(747)v31151",3,3,1,"32630A","SP2","chr17:46005792-46005793","c.*602(exon7)_c.*603(exon7)insCT","非编码区","rs35839416",0.55,0.73,0.77,0.68,0.47,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SP2",1,65,"非编码区",2420,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",6668,"17q21.32","NM_003110"]
["32630A(747)v31190",122,71,0.582,"32630A","SPATA16","chr3:172835125","c.397A>G(exon2)","p.M133V","rs1515442",0.43,0.4,0.4,0.4,0.39,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精子生成障碍6型","AD",102530,5,1,1,1,"SPATA16",1,160,"非同义",12220,"0.6000=84/140","位于基因组单拷贝区域+DNA结构正常",83893,"3q26.31","NM_031955"]
["32630A(747)v31226",167,75,0.4491,"32630A","SPATA4","chr4:177113779","c.687A>G(exon4)","p.P229P","rs12502935",0.36,0.62,0.6,0.63,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SPATA4",1,200,"同义",13202,"0.4503=86/191","位于基因组单拷贝区域+DNA结构正常",132851,"4q34.2","NM_144644"]
["32630A(747)v31241",117,51,0.4359,"32630A","SPATA9","chr5:94994339","c.753T>C(exon5)","p.N251N","rs10705",0.13,0.15,0.12,0.18,0.15,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SPATA9",1,190,"同义",13203,"0.4478=60/134","位于基因组单拷贝区域+DNA结构正常",83890,"5q15","NM_031952"]
["32630A(747)v31319",58,58,1,"32630A","SPHKAP","chr2:228883721","c.1849A>G(exon7)","p.K617E","rs3811514",0.64,0.64,0.61,0.67,0.6,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SPHKAP",1,88,"非同义",12220,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",80309,"2q36","NM_001142644"]
["32630A(747)v31346",341,341,1,"32630A","SPINK5","chr5:147488367","c.1659C>T(exon18)","p.V553V","rs2303071",0.6,0.44,0.42,0.47,0.45,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","IgE反应,遗传性过敏症","AD",147050,5,1,18,2,"SPINK5",1,260,"同义",13203,"1.0000=402/402","位于基因组单拷贝区域+DNA结构正常",11005,"5q32","NM_001127698",null,"rs2303071|Benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v31357",55,55,1,"32630A","SPINT1","chr15:41148199","c.1275C>T(exon9)","p.Y425Y","rs659232",0.85,0.99,0.99,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"SPINT1",1,68,"同义",13203,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",6692,"15q15.1","NM_181642"]
["32630A(747)v31414",216,213,0.9861,"32630A","SPRR1A","chr1:152957832","c.126C>A(exon2)","p.H42Q","rs1611762",0.51,0.65,0.64,0.66,0.63,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SPRR1A",1,250,"非同义",12210,"0.9846=256/260","位于基因组多拷贝区域+DNA结构正常",6698,"1q21-q22","NM_001199828"]
["32630A(747)v31453",8,8,1,"32630A","SPTA1","chr1:158580778","c.*276T>C(exon52)","非编码区","rs12128275",0.11,0.21,0.17,0.25,0.21,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"椭圆形红细胞增多症2型","AD",130600,5,1,18,3,"SPTA1",1,120,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",6708,"1q21","NM_003126"]
["32630A(747)v31463",78,77,0.9872,"32630A","SPTA1","chr1:158614198","c.4195-12G>A(exon30)","非编码区","rs6702040",0.32,0.21,0.17,0.25,0.2,0.19,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"椭圆形红细胞增多症2型","AD",130600,5,1,18,3,"SPTA1",1,120,"非编码区",16202,"0.9878=81/82","位于基因组单拷贝区域+DNA结构正常",6708,"1q21","NM_003126"]
["32630A(747)v31475",16,9,0.5625,"32630A","SPTBN2","chr11:66458980","c.5340C>T(exon26)","p.N1780N","rs623022",0.063,0.16,0.17,0.15,0.14,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性脊髓小脑性共济失调14型","AR",615386,5,3,5,2,"SPTBN2",1,47,"同义",13203,"0.4500=9/20","位于基因组单拷贝区域+DNA结构正常",6712,"11q13","NM_006946"]
["32630A(747)v31519",16,16,1,"32630A","SRA1","chr5:139936980","c.58T>C(exon1)","p.C20R","rs250427",null,0.84,0.82,0.86,0.84,0.84,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,7,0,"SRA1",1,59,"非同义",12320,"1.0000=16/16","位于基因组单拷贝区域+DNA结构正常",10011,"5q31.3","NM_001253764"]
["32630A(747)v31580",9,9,1,"32630A","SRPX2","chrX:99926122","c.*138G>A(exon11)","非编码区","rs5967163",null,1,1,1,null,null,"半合子","未知","UTR突变可能影响蛋白翻译",null,"运动性癫痫、智力低下和言语失用症",null,300643,3,1,1,2,"SRPX2",1,76,"非编码区",14300,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",27286,"Xq21.33-q23","NM_014467"]
["32630A(747)v31599",4,4,1,"32630A","SRSF8","chr11:94800144","c.-247G>A(exon1)","非编码区","rs2922090",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SRSF8",1,65,"非编码区",14200,"1.0000=4/4","位于基因组多拷贝区域+DNA结构正常",10929,"11q22","NM_032102"]
["32630A(747)v31650",40,38,0.95,"32630A","SSTR4","chr20:23017082","c.962T>C(exon1)","p.F321S","rs2567608",0.52,0.61,0.58,0.63,0.57,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","20085586;25469008",{"$nulls":3},5,null,4,0,"SSTR4",1,39,"非同义",12220,"0.9535=41/43","位于基因组单拷贝区域+DNA结构正常",6754,"20p11.2","NM_001052"]
["32630A(747)v31694",23,23,1,"32630A","ST8SIA1","chr12:22354921","c.636T>C(exon5)","p.I212I","rs704219",0.81,0.82,0.84,0.8,0.84,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18612409,{"$nulls":3},5,null,1,0,"ST8SIA1",1,100,"同义",13203,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",6489,"12p12.1-p11.2","NM_003034"]
["32630A(747)v31722",152,80,0.5263,"32630A","STAG1","chr3:136088038","c.2457C>T(exon24)","p.F819F","rs9860801",0.3,0.05,0.052,0.049,0.052,0.05,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"STAG1",1,180,"同义",13203,"0.5238=88/168","位于基因组单拷贝区域+DNA结构正常",10274,"3q22.3","NM_005862"]
["32630A(747)v31788",39,39,1,"32630A","STK24","chr13:99127252","c.440-20G>C(exon5)","非编码区","rs9513430",0.46,0.26,0.29,0.22,0.31,0.32,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"STK24",1,120,"非编码区",16202,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",8428,"13q31.2-q32.3","NM_001032296"]
["32630A(747)v31831",105,51,0.4857,"32630A","STON1-GTF2A1L","chr2:48807976","c.204T>C(exon2)","p.D68D","rs3828340",0.34,0.4,0.38,0.43,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"STON1-GTF2A1L",1,100,"同义",13203,"0.4615=54/117","位于基因组单拷贝区域+DNA结构正常",286749,"2p16.3","NM_172311"]
["32630A(747)v31845",69,41,0.5942,"32630A","STON1","chr2:48808898","c.1126C>T(exon3)","p.L376L","rs3749145",0.33,0.4,0.38,0.42,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"STON1",1,100,"同义",13203,"0.6203=49/79","位于基因组单拷贝区域+DNA结构正常",11037,"2p16.3","NM_001198595"]
["32630A(747)v31906",128,54,0.4219,"32630A","STXBP6","chr14:25281843","c.*72G>A(exon6)","非编码区","rs712491",0.19,0.34,0.36,0.33,0.32,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"STXBP6",1,150,"非编码区",14200,"0.4067=61/150","位于基因组单拷贝区域+DNA结构正常",29091,"14q12","NM_014178"]
["32630A(747)v31921",17,12,0.7059,"32630A","SUCO","chr1:172502479","c.-97T>C(exon1)","非编码区","rs2285144",0.59,0.4,0.43,0.36,0.38,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SUCO",1,220,"非编码区",14200,"0.7368=14/19","位于基因组单拷贝区域+DNA结构正常",51430,"1q24","NM_014283"]
["32630A(747)v31966",121,121,1,"32630A","SULT2A1","chr19:48389425","c.90T>C(exon1)","p.F30F","rs11083907",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SULT2A1",1,140,"同义",13203,"1.0000=133/133","位于基因组单拷贝区域+DNA结构正常",6822,"19q13.3","NM_003167"]
["32630A(747)v32030",36,36,1,"32630A","SVEP1","chr9:113169630","c.8250A>G(exon38)","p.A2750A","rs7046213",0.66,0.49,0.53,0.44,0.45,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"SVEP1",1,130,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",79987,"9q32","NM_153366"]
["32630A(747)v32064",83,83,1,"32630A","SWT1","chr1:185137454-185137455","c.166-18(exon4)_c.166-17(exon4)insAAATGATAGAC","非编码区","rs58809696",{"$nulls":6},"纯合","未知","内含子突变",{"$nulls":4},4,null,5,0,"SWT1",1,220,"非编码区",2500,"1.0000=102/102","位于基因组单拷贝区域+简单重复结构",54823,"1q25","NM_017673"]
["32630A(747)v32101",13,5,0.3846,"32630A","SYDE1","chr19:15220850","c.766G>A(exon3)","p.A256T","rs2240297",0.24,0.29,0.37,0.2,0.29,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SYDE1",1,52,"非同义",12220,"0.3846=5/13","位于基因组单拷贝区域+DNA结构正常",85360,"19p13.12","NM_033025"]
["32630A(747)v32121",7,7,1,"32630A","SYNDIG1","chr20:24524218","c.480+5C>G(exon2)","非编码区","rs4815274",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SYNDIG1",1,51,"非编码区",16202,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",79953,"20p11.21","NM_024893"]
["32630A(747)v32149",145,145,1,"32630A","SYNE1","chr6:152809527","c.1047+4T>A(exon12)","非编码区","rs9397106",0.59,0.72,0.71,0.72,0.78,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","常染色体隐性脊髓小脑性共济失调8型","AR",610743,5,1,28,2,"SYNE1",1,130,"非编码区",16202,"1.0000=170/170","位于基因组单拷贝区域+DNA结构正常",23345,"6q25","NM_182961",null,"rs9397106|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32630A(747)v32191",116,114,0.9828,"32630A","SYNJ2BP-COX16","chr14:70793004","c.*46T>C(exon6)","非编码区","rs4749",0.77,0.94,0.93,0.95,0.93,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SYNJ2BP-COX16",1,350,"非编码区",14200,"0.9853=134/136","位于基因组单拷贝区域+DNA结构正常",100529257,"14q24","NM_001202547"]
["32630A(747)v32223",10,7,0.7,"32630A","SYT15","chr10:46970573","c.-125G>C(exon1)","非编码区","rs6587511",{"$nulls":5},0.5,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"SYT15",1,98,"非编码区",14300,"0.7000=7/10","位于基因组单拷贝区域+DNA结构正常",83849,"10q11.1","NM_031912"]
["32630A(747)v32280",105,104,0.9905,"32630A","TACR1","chr2:75425728","c.333T>C(exon1)","p.F111F","rs6715729",0.57,0.37,0.37,0.38,0.39,0.41,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19553914,{"$nulls":3},5,null,2,0,"TACR1",1,120,"同义",13203,"0.9917=120/121","位于基因组单拷贝区域+DNA结构正常",6869,"2p12","NM_001058"]
["32630A(747)v32320",156,79,0.5064,"32630A","TAF2","chr8:120803637","c.1340G>C(exon11)","p.S447T","rs9297605",0.66,0.46,0.48,0.43,0.45,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23238918,"精神（智力）发育迟滞40型","AR",615599,5,3,4,1,"TAF2",1,200,"非同义",12230,"0.5137=94/183","位于基因组单拷贝区域+DNA结构正常",6873,"8q24.12","NM_003184"]
["32630A(747)v32355",41,41,1,"32630A","TANC1","chr2:160086654","c.4717A>G(exon27)","p.T1573A","rs55738533",0.51,0.61,0.63,0.6,0.65,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"TANC1",1,120,"非同义",12220,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",85461,"2q24.2","NM_033394"]
["32630A(747)v32418",151,50,0.3311,"32630A","TAS2R19","chr12:11174286","c.885G>T(exon1)","p.W295C","rs77837442",{"$nulls":4},0.46,0.071,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,18,0,"TAS2R19",1,240,"非同义",12310,"0.3220=57/177","位于基因组多拷贝区域+DNA结构正常",259294,"12p13.2","NM_176888"]
["32630A(747)v32430",157,157,1,"32630A","TAS2R19","chr12:11174753","c.418C>T(exon1)","p.L140L","rs1868769",0.7,0.86,0.85,0.86,0.88,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19092995,{"$nulls":3},5,null,18,0,"TAS2R19",1,240,"同义",13203,"1.0000=193/193","位于基因组多拷贝区域+DNA结构正常",259294,"12p13.2","NM_176888"]
["32630A(747)v32479",217,50,0.2304,"32630A","TAS2R43","chr12:11244149","c.680C>T(exon1)","p.A227V","rs73064964",7.6E-3,0,0,0,0.46,0.45,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,27,0,"TAS2R43",1,220,"非同义",12110,"0.2314=56/242","位于基因组多拷贝区域+DNA结构正常",259289,"12p13.2","NM_176884"]
["32630A(747)v32505",92,92,1,"32630A","TAS2R4","chr7:141478574","c.286G>C(exon1)","p.V96L","rs2234001",0.53,0.74,0.74,0.74,0.76,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19092995;24705770",{"$nulls":3},5,null,3,0,"TAS2R4",1,110,"非同义",12220,"1.0000=106/106","位于基因组单拷贝区域+DNA结构正常",50832,"7q31.3-q32","NM_016944"]
["32630A(747)v32577",7,3,0.4286,"32630A","TBC1D27","chr17:16828790","c.689A>G(exon7)","p.H230R","rs3752004",0.38,0.42,0.44,0.41,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TBC1D27",null,null,"非同义",12220,"0.4286=3/7","位于基因组多拷贝区域+DNA结构正常",96597,"17p11.2","XM_003846282"]
["32630A(747)v32618",51,31,0.6078,"32630A","TBCD","chr17:80863857","c.1850T>C(exon20)","p.M617T","rs2292971",0.49,0.26,0.25,0.27,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TBCD",1,86,"非同义",12220,"0.6207=36/58","位于基因组单拷贝区域+DNA结构正常",6904,"17q25.3","NM_005993"]
["32630A(747)v32634",54,21,0.3889,"32630A","TBX10","chr11:67402362","c.302A>C(exon3)","p.K101T","rs3758938",0.22,0.13,0.13,0.13,0.12,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16741161,{"$nulls":3},5,null,2,0,"TBX10",1,65,"非同义",12210,"0.3934=24/61","位于基因组单拷贝区域+DNA结构正常",347853,"11q13.2","NM_005995","LYS101THR|\"Lung_cancer_susceptibility_to_association_with\"|16741161"]
["32630A(747)v32685",40,19,0.475,"32630A","TCF25","chr16:89965055","c.1113G>A(exon10)","p.L371L","rs11648433",0.078,0.27,0.32,0.21,0.21,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TCF25",1,76,"同义",13202,"0.4773=21/44","位于基因组单拷贝区域+DNA结构正常",22980,"16q24.3","NM_014972"]
["32630A(747)v32691",29,12,0.4138,"32630A","TCF4","chr18:53070914","c.32C>T(exon1)","p.A11V","rs17522826",0.19,0.5,0.5,0.5,0.53,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","Pitt-Hopkins综合征","AD",610954,5,1,3,1,"TCF4",0.92,130,"非同义",12220,"0.4242=14/33","位于基因组单拷贝区域+DNA结构正常",6925,"18q21.1","NM_001243232",null,"rs17522826|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32630A(747)v32742",261,112,0.4291,"32630A","TCTEX1D1","chr1:67242087","c.336+1G>A(exon4)","剪切位点","rs3816989",0.13,0.14,0.15,0.12,0.13,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16937379,{"$nulls":3},5,null,2,0,"TCTEX1D1",1,220,"剪切位点",16204,"0.4199=131/312","位于基因组单拷贝区域+DNA结构正常",200132,"1p31.3","NM_152665"]
["32630A(747)v32797",4,2,0.5,"32630A","TEDDM1","chr1:182369738","c.-118C>T(exon1)","非编码区","rs7551829",0.85,0.84,0.85,0.83,0.81,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TEDDM1",1,89,"非编码区",14200,"0.6000=3/5","位于基因组单拷贝区域+DNA结构正常",127670,"1q25.3","NM_172000"]
["32630A(747)v32833",3,3,1,"32630A","TENM4","chr11:78366586","c.*2517A>C(exon34)","非编码区","rs1792133",0.98,0.94,0.96,0.93,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TENM4",1,96,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_001098816"]
["32630A(747)v32869",43,18,0.4186,"32630A","TEX14","chr17:56643109","c.4101T>C(exon28)","p.N1367N","rs34818467",0.14,0.18,0.19,0.17,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TEX14",1,120,"同义",13202,"0.3958=19/48","位于基因组单拷贝区域+DNA结构正常",56155,"17q22","NM_001201457"]
["32630A(747)v32887",76,37,0.4868,"32630A","TFAP2A","chr6:10398707","c.1239C>T(exon7)","p.N413N","rs3734391",0.089,0.0048,0,0.0097,0.022,0.022,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"鳃裂-眼-面综合征","AD",113620,5,1,1,1,"TFAP2A",1,88,"同义",13203,"0.4886=43/88","位于基因组单拷贝区域+DNA结构正常",7020,"6p24","NM_001032280"]
["32630A(747)v32930",172,82,0.4767,"32630A","TGFBR3","chr1:92200382","c.519A>G(exon5)","p.S173S","rs2306888",0.032,0.094,0.09,0.097,0.096,0.099,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"TGFBR3",1,150,"同义",13103,"0.4928=102/207","位于基因组单拷贝区域+DNA结构正常",7049,"1p33-p32","NM_003243"]
["32630A(747)v32981",21,14,0.6667,"32630A","TG","chr8:133900827","c.2761+14T>C(exon10)","非编码区","rs76286566",0.023,0.07,0.071,0.068,0.082,0.088,"杂合","未知","内含子突变可能影响调控",null,"自身免疫性甲状腺疾病,易感3型",null,608175,4,2,10,2,"TG",1,100,"非编码区",16103,"0.6667=14/21","位于基因组单拷贝区域+DNA结构正常",7038,"8q24","NM_003235"]
["32630A(747)v32992",50,50,1,"32630A","THAP4","chr2:242573211","c.361A>G(exon2)","p.S121G","rs7424328",0.61,0.88,0.88,0.88,0.88,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"THAP4",1,65,"非同义",12220,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",51078,"2q37.3","NM_015963"]
["32630A(747)v33052",199,104,0.5226,"32630A","THSD1","chr13:52960290","c.1053G>A(exon4)","p.Q351Q","rs200722444",1.8E-3,0.0072,0.0095,0.0049,0.012,0.015,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"THSD1",1,91,"同义",13103,"0.5314=127/239","位于基因组单拷贝区域+DNA结构正常",55901,"13q14.3","NM_018676"]
["32630A(747)v33094",9,9,1,"32630A","TICAM1","chr19:4818378","c.12A>G(exon2)","p.T4T","rs7255265",0.73,0.59,0.56,0.63,0.6,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19543401,"单纯疱疹病毒性脑炎（急性感染诱发的脑病，易感）",null,614850,5,1,3,1,"TICAM1",1,36,"同义",13203,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",148022,"19p13.3","NM_182919"]
["32630A(747)v33127",101,49,0.4851,"32630A","TIMMDC1","chr3:119236179","c.707+17G>A(exon6)","非编码区","rs60006470",0.19,0.019,0.019,0.019,0.0079,0.012,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TIMMDC1",1,200,"非编码区",16203,"0.4825=55/114","位于基因组单拷贝区域+DNA结构正常",51300,"3q13.33","NM_016589"]
["32630A(747)v33183",227,227,1,"32630A","TLL1","chr4:167012381","c.2544G>A(exon19)","p.L848L","rs2654492",0.91,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"房间隔缺损6型","AD",613087,5,1,5,1,"TLL1",1,230,"同义",13203,"1.0000=261/261","位于基因组单拷贝区域+DNA结构正常",7092,"4q32-q33","NM_012464"]
["32630A(747)v33193",56,56,1,"32630A","TLN2","chr15:63009804","c.2793C>T(exon21)","p.A931A","rs1320191",0.74,0.95,0.96,0.94,0.94,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TLN2",1,120,"同义",13203,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",83660,"15q15-q21","NM_015059"]
["32630A(747)v33232",27,13,0.4815,"32630A","TLX3","chr5:170736474","c.105G>A(exon1)","p.P35P","rs2303742",2.8E-3,0.019,0.029,0.0097,0.021,0.028,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"TLX3",1,41,"同义",13103,"0.4643=13/28","位于基因组单拷贝区域+DNA结构正常",30012,"5q35.1","NM_021025"]
["32630A(747)v33295",56,56,1,"32630A","TMC7","chr16:19056769","c.1223+9G>A(exon11)","非编码区","rs12051270",0.47,0.72,0.7,0.73,0.74,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TMC7",1,110,"非编码区",16203,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",79905,"16p12.3","NM_001160364"]
["32630A(747)v33314",113,113,1,"32630A","TMCO7","chr16:69008037","c.2808C>T(exon15)","p.V936V","rs3743678",0.12,0.33,0.31,0.34,0.3,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TMCO7",1,120,"同义",13203,"1.0000=131/131","位于基因组单拷贝区域+DNA结构正常",79613,"16q22.1","NM_024562"]
["32630A(747)v33355",158,68,0.4304,"32630A","TMEM126A","chr11:85366762","c.395+10A>G(exon4)","非编码区","rs2196168",0.38,0.39,0.4,0.38,0.35,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"视神经萎缩7型","AR",612989,5,3,1,1,"TMEM126A",1,210,"非编码区",16203,"0.4237=75/177","位于基因组单拷贝区域+DNA结构正常",84233,"11q14.1","NM_032273"]
["32630A(747)v33382",76,40,0.5263,"32630A","TMEM132C","chr12:128900005","c.814G>A(exon2)","p.V272I","rs1683723",0.51,0.61,0.66,0.57,0.6,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"TMEM132C",1,79,"非同义",12220,"0.4828=42/87","位于基因组单拷贝区域+DNA结构正常",92293,"12q24.32","NM_001136103"]
["32630A(747)v33453",53,24,0.4528,"32630A","TMEM177","chr2:120438549","c.120C>T(exon2)","p.P40P","rs116312030",0.0006,0.0072,0,0.015,0.0094,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"TMEM177",1,49,"同义",13103,"0.4655=27/58","位于基因组单拷贝区域+DNA结构正常",80775,"2q14.2","NM_001105198"]
["32630A(747)v33498",240,240,1,"32630A","TMEM209","chr7:129813738","c.1386A>G(exon12)","p.L462L","rs3823482",0.3,0.52,0.51,0.52,0.56,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TMEM209",1,210,"同义",13203,"1.0000=281/281","位于基因组单拷贝区域+DNA结构正常",84928,"7q32.2","NM_032842"]
["32630A(747)v33507",45,45,1,"32630A","TMEM216","chr11:61165741","c.440G>C(exon5)","p.R147T","rs10897158",0.72,0.97,0.97,0.97,0.95,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"Meckel综合征2型",null,603194,5,1,3,2,"TMEM216",0.92,68,"非同义",12220,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",51259,"11q13.1","NM_001173991",null,"rs10897158|Benign|OMIM:213300|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213;ARG147THR|Benign|OMIM:213300|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213"]
["32630A(747)v33567",103,49,0.4757,"32630A","TMEM41B","chr11:9305051","c.796A>G(exon7)","p.I266V","rs78813996",0.048,0.25,0.27,0.23,0.19,0.2,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"TMEM41B",1,170,"非同义",12120,"0.4715=58/123","位于基因组单拷贝区域+DNA结构正常",440026,"11p15.4","NM_015012"]
["32630A(747)v33602",66,27,0.4091,"32630A","TMEM61","chr1:55446664","c.-75G>C(exon1)","非编码区","rs2253467",0.61,0.46,0.48,0.44,0.49,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TMEM61",1,52,"非编码区",14200,"0.4800=36/75","位于基因组单拷贝区域+DNA结构正常",199964,"1p32.3","NM_182532"]
["32630A(747)v33627",139,61,0.4388,"32630A","TMEM67","chr8:94827660","c.2892A>C(exon27)","p.T964T","rs16916221",0.069,0.23,0.22,0.25,0.24,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"肾消耗病11型","AR",613550,5,3,3,5,"TMEM67",1,220,"同义",13203,"0.4268=70/164","位于基因组单拷贝区域+DNA结构正常",91147,"8q22.1","NM_153704",null,"rs16916221|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32630A(747)v33684",99,99,1,"32630A","TMPRSS11E","chr4:69343353","c.967+7A>G(exon8)","非编码区",null,null,0.84,0.83,0.84,0.86,0.86,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"TMPRSS11E",1,200,"非编码区",16403,"1.0000=108/108","位于基因组单拷贝区域+DNA结构正常",28983,"4q13.2","NM_014058"]
["32630A(747)v33715",86,86,1,"32630A","TMPRSS4","chr11:117988082","c.1215T>C(exon12)","p.S405S","rs642215",0.78,0.56,0.57,0.54,0.57,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TMPRSS4",1,100,"同义",13203,"1.0000=95/95","位于基因组单拷贝区域+DNA结构正常",56649,"11q23.3","NM_019894"]
["32630A(747)v33759",116,116,1,"32630A","TMX4","chr20:7990831","c.292+16C>A(exon2)","非编码区","rs6140496",0.15,0.49,0.54,0.44,null,0.53,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TMX4",1,160,"非编码区",16203,"1.0000=139/139","位于基因组单拷贝区域+DNA结构正常",56255,"20p12","NM_021156"]
["32630A(747)v33775",25,25,1,"32630A","TNFRSF10B","chr8:22886130","c.477-15T>C(exon5)","非编码区","rs2293399",0.86,0.99,0.99,0.99,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"头颈部鳞状细胞癌","AR",275355,5,1,4,1,"TNFRSF10B",1,79,"非编码区",16202,"1.0000=27/27","位于基因组多拷贝区域+DNA结构正常",8795,"8p22-p21","NM_003842"]
["32630A(747)v33820",18,10,0.5556,"32630A","TNFSF12","chr17:7460517","c.600G>C(exon7)","p.A200A","rs3803798",0.55,0.64,0.64,0.64,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TNFSF12",1,8.5,"同义",13203,"0.5789=11/19","位于基因组单拷贝区域+DNA结构正常",8742,"17p13","NM_003809"]
["32630A(747)v33857",41,41,1,"32630A","TNNI3","chr19:55665584","c.373-10T>G(exon7)","非编码区","rs7252610",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性肥厚型心肌病7型","AD",613690,5,1,3,4,"TNNI3",1,59,"非编码区",16202,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",7137,"19q13.4","NM_000363",null,"rs7252610|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v33876",20,20,1,"32630A","TNPO1","chr5:72112421","c.-144T>C(exon1)","非编码区","rs34648",0.87,0.69,0.69,0.7,0.7,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TNPO1",1,200,"非编码区",14200,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",3842,"5q13.2","NM_002270"]
["32630A(747)v33929",39,20,0.5128,"32630A","TOB2","chr22:41832522","c.828T>C(exon2)","p.D276D","rs199685950",1.4E-3,0.0024,0.0048,0,0.0042,0.0054,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"TOB2",1,54,"同义",13103,"0.5778=26/45","位于基因组多拷贝区域+DNA结构正常",10766,"22q13.2","NM_016272"]
["32630A(747)v33979",115,60,0.5217,"32630A","TP53BP1","chr15:43748304","c.2487T>C(exon12)","p.D829D","rs690367",0.53,0.44,0.41,0.47,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"TP53BP1",1,110,"同义",13203,"0.5462=71/130","位于基因组单拷贝区域+DNA结构正常",7158,"15q15-q21","NM_005657"]
["32630A(747)v33988",61,25,0.4098,"32630A","TP53","chr17:7579472","c.215C>G(exon4)","p.P72R","rs1042522",0.54,0.57,0.6,0.55,0.57,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","9891044;8625447;15450681;15564288;16287156","乳腺癌，浸润性导管","AD",114480,5,1,3,11,"TP53",1,100,"非同义",11200,"0.3714=26/70","位于基因组单拷贝区域+DNA结构正常",7157,"17p13.1","NM_001126114","rs1042522|\"Lung_cancer_association_with\"|8625447","PRO72ARG|Benign;Uncertain significance|OMIM:151623|OMIM:191170.0005|criteria provided, conflicting interpretations|PubMed:9891044;rs1042522|Benign;Uncertain significance|OMIM:151623|OMIM:191170.0005|criteria provided, conflicting interpretations|PubMed:9891044","PRO72ARG|137800|191170.0005.1"]
["32630A(747)v34013",6,3,0.5,"32630A","TPM1","chr15:63340705","c.-70C>T(exon1)","非编码区","rs111470259",0.21,0.43,0.42,0.43,0.38,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"扩张性心肌病1Y型",null,611878,5,2,5,2,"TPM1",1,110,"非编码区",14200,"0.5000=3/6","位于基因组单拷贝区域+DNA结构正常",7168,"15q22.1","NM_001018008"]
["32630A(747)v34021",4,3,0.75,"32630A","TPO","chr2:1481231","c.1193G>C(exon7)","p.S398T","rs2175977",0.71,0.78,0.81,0.75,0.74,0.87,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甲状腺激素生成障碍2A型","AR",274500,5,3,7,1,"TPO",0.97,83,"非同义",12210,"0.8000=4/5","位于基因组单拷贝区域+DNA结构正常",7173,"2p25","NM_175721"]
["32630A(747)v34066",86,43,0.5,"32630A","TPSD1","chr16:1306671","c.237G>A(exon2)","p.A79A","rs1141966",0.44,0.82,0.84,0.79,0.76,0.8,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"TPSD1",1,140,"同义",13203,"0.4835=44/91","位于基因组多拷贝区域+DNA结构正常",23430,"16p13.3","NM_012217"]
["32630A(747)v34135",71,36,0.507,"32630A","TRAPPC10","chr21:45479055","c.750C>T(exon6)","p.D250D","rs2838475",0.055,0.053,0.048,0.058,0.041,0.043,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TRAPPC10",1,110,"同义",13203,"0.4943=43/87","位于基因组单拷贝区域+DNA结构正常",7109,"21q22.3","NM_003274"]
["32630A(747)v34162",152,56,0.3684,"32630A","TRDMT1","chr10:17204187","c.301C>T(exon4)","p.H101Y","rs11254413",0.38,0.26,0.25,0.28,0.29,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"TRDMT1",1,190,"非同义",12220,"0.3488=60/172","位于基因组单拷贝区域+DNA结构正常",1787,"10p15.1","NM_004412"]
["32630A(747)v34207",34,13,0.3824,"32630A","TRIB1","chr8:126448789","c.*76G>A(exon3)","非编码区","rs2235108",0.21,0.094,0.076,0.11,0.084,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TRIB1",1,76,"非编码区",14200,"0.3784=14/37","位于基因组单拷贝区域+DNA结构正常",10221,"8q24.13","NM_025195"]
["32630A(747)v34220",131,72,0.5496,"32630A","TRIM16L","chr17:18630995","c.125G>A(exon2)","p.R42K","rs8075739",0.33,0.19,0.21,0.16,0.16,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TRIM16L",1,180,"非同义",12220,"0.5533=83/150","位于基因组多拷贝区域+DNA结构正常",147166,"17p11.2","NM_001037330"]
["32630A(747)v34281",61,21,0.3443,"32630A","TRIM56","chr7:100731829","c.1236T>C(exon3)","p.A412A","rs6948536",0.71,0.58,0.57,0.59,0.56,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TRIM56",1,43,"同义",13203,"0.3056=22/72","位于基因组单拷贝区域+DNA结构正常",81844,"7q22.1","NM_030961"]
["32630A(747)v34336",50,23,0.46,"32630A","TRIML2","chr4:189012456","c.*71G>A(exon7)","非编码区","rs2279548",0.24,0.53,0.58,0.49,0.53,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TRIML2",1,120,"非编码区",14200,"0.4386=25/57","位于基因组单拷贝区域+DNA结构正常",205860,"4q35.2","NM_173553"]
["32630A(747)v34346",47,24,0.5106,"32630A","TRIOBP","chr22:38122122","c.3559T>C(exon7)","p.F1187L","rs5756795",0.34,0.62,0.62,0.63,0.65,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传耳聋28型","AR",609823,5,3,10,1,"TRIOBP",1,140,"非同义",12210,"0.5085=30/59","位于基因组单拷贝区域+DNA结构正常",11078,"22q13.1","NM_001039141"]
["32630A(747)v34411",39,38,0.9744,"32630A","TRPC6","chr11:101375549","c.171-20A>G(exon2)","非编码区","rs10501986",0.4,0.15,0.15,0.16,0.17,0.18,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17903293;25019165","局灶性节段性肾小球硬化症2型",null,603965,5,1,2,1,"TRPC6",1,150,"非编码区",16202,"0.9756=40/41","位于基因组单拷贝区域+DNA结构正常",7225,"11q22.1","NM_004621"]
["32630A(747)v34444",121,54,0.4463,"32630A","TRPM8","chr2:234878334","c.2026-5T>G(exon16)","非编码区",{"$nulls":7},"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,1,0,"TRPM8",1,130,"非编码区",16401,"0.4326=61/141","位于基因组单拷贝区域+DNA结构正常",79054,"2q37.1","NM_024080"]
["32630A(747)v34470",95,95,1,"32630A","TRPV4","chr12:110240838","c.670A>C(exon4)","p.R224R","rs3825394",0.75,0.97,0.96,0.97,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性非渐进型远端脊髓肌萎缩","AD",600175,5,1,2,10,"TRPV4",1,74,"同义",13203,"1.0000=108/108","位于基因组单拷贝区域+DNA结构正常",59341,"12q24.1","NM_021625"]
["32630A(747)v34504",77,39,0.5065,"32630A","TSHZ3","chr19:31768416","c.2283T>C(exon2)","p.A761A","rs3745784",0.31,0.26,0.23,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TSHZ3",1,80,"同义",13203,"0.4944=44/89","位于基因组单拷贝区域+DNA结构正常",57616,"19q12","NM_020856"]
["32630A(747)v34519",17,6,0.3529,"32630A","TSPAN10","chr17:79612633","c.652T>C(exon2)","p.Y218H","rs34379910",0.085,0.18,0.18,0.18,0.21,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"TSPAN10",1,27,"非同义",12210,"0.3000=6/20","位于基因组单拷贝区域+DNA结构正常",83882,"17q25.3","NM_031945"]
["32630A(747)v34561",51,25,0.4902,"32630A","TSPAN9","chr12:3389538","c.331-10C>T(exon6)","非编码区","rs71577834",0.0008,0,0,0,0.00052,0,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"TSPAN9",1,66,"非编码区",16102,"0.4561=26/57","位于基因组单拷贝区域+DNA结构正常",10867,"12p13.33-p13.32","NM_006675"]
["32630A(747)v34594",132,78,0.5909,"32630A","TTC18","chr10:75035257","c.2830A>G(exon23)","p.N944D","rs4294502",0.23,0.33,0.33,0.33,0.33,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TTC18",1,160,"非同义",12220,"0.5804=83/143","位于基因组单拷贝区域+DNA结构正常",118491,"10q22.2","NM_145170"]
["32630A(747)v34649",46,46,1,"32630A","TTC3","chr21:38568308","c.5550C>T(exon42)","p.H1850H","rs6579",0.59,0.62,0.62,0.62,0.57,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"TTC3",1,210,"同义",13203,"1.0000=49/49","位于基因组多拷贝区域+DNA结构正常",7267,"21q22.2","NM_003316"]
["32630A(747)v34688",15,15,1,"32630A","TTLL10","chr1:1115210","c.-44G>A(exon1)","非编码区","rs11260546",0.31,0.6,0.62,0.57,0.57,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TTLL10",1,54,"非编码区",14200,"1.0000=16/16","位于基因组单拷贝区域+DNA结构正常",254173,"1p36.33","NM_153254"]
["32630A(747)v34724",114,64,0.5614,"32630A","TTLL6","chr17:46877063","c.671C>T(exon6)","p.P224L","rs61739953",0.078,0.084,0.09,0.078,0.066,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TTLL6",1,130,"非同义",12210,"0.5656=69/122","位于基因组单拷贝区域+DNA结构正常",284076,"17q21.32","NM_001130918"]
["32630A(747)v34740",87,87,1,"32630A","TTN","chr2:179406191","c.97613G>A(exon350)","p.R32538H","rs3731749",0.21,0.4,0.44,0.36,0.42,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"遗传性肌病伴早期呼吸衰竭",null,603689,5,1,57,6,"TTN",0.99,130,"非同义",12210,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs3731749|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v34742",119,119,1,"32630A","TTN","chr2:179421694","c.88187T>C(exon330)","p.I29396T","rs9808377",0.51,0.69,0.71,0.66,0.67,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1G型",null,604145,5,1,57,6,"TTN",0.99,130,"非同义",12220,"1.0000=137/137","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs9808377|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v34750",90,90,1,"32630A","TTN","chr2:179447848","c.65682A>G(exon313)","p.T21894T","rs4894029",0.51,0.69,0.73,0.66,0.67,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1G型",null,604145,5,1,57,6,"TTN",0.99,130,"同义",13203,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs4894029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v34761",222,222,1,"32630A","TTN","chr2:179558366","c.31564A>G(exon119)","p.I10522V","rs2042995",0.48,0.55,0.6,0.5,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性肥厚型心肌病9型",null,613765,5,1,57,6,"TTN",0.99,130,"非同义",12220,"1.0000=257/257","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs2042995|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;ILE10522VAL|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v34766",110,110,1,"32630A","TTN","chr2:179582327","c.25274G>A(exon87)","p.S8425N","rs13390491",0.24,0.43,0.46,0.39,0.43,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"先天性肌病,早发,伴心肌病","AR",611705,5,1,57,6,"TTN",0.99,130,"非同义",12220,"1.0000=123/123","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"SER8425ASN|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;rs13390491|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v34774",102,102,1,"32630A","TTN","chr2:179605180","c.12780G>A(exon48)","p.A4260A","rs746578",0.24,0.48,0.49,0.47,0.48,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1G型",null,604145,5,1,57,6,"TTN",0.99,130,"同义",13203,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs746578|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v34776",48,48,1,"32630A","TTN","chr2:179615887","c.11240A>G(exon46)","p.D3747G","rs922984",0.73,0.75,0.75,0.75,0.76,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性肥厚型心肌病9型",null,613765,5,1,57,6,"TTN",0.99,130,"非同义",12220,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_133379",null,"ASP3747GLY|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v34789",22,22,1,"32630A","TTYH2","chr17:72209858","c.129+3A>G(exon1)","非编码区","rs7206926",0.8,0.74,0.73,0.74,0.76,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TTYH2",1,66,"非编码区",16202,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",94015,"17q25.1","NM_032646"]
["32630A(747)v34834",68,33,0.4853,"32630A","TUBE1","chr6:112408610","c.25+3A>G(exon1)","非编码区","rs6568714",0.3,0.35,0.35,0.35,0.35,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TUBE1",1,210,"非编码区",16202,"0.4861=35/72","位于基因组单拷贝区域+DNA结构正常",51175,"6q21","NM_016262"]
["32630A(747)v34842",29,29,1,"32630A","TUBGCP2","chr10:135103311-135103312","c.1444+16(exon10)_c.1444+17(exon10)insAGGGACTTGGCGTCCGCGGCGCAGCGGGC","非编码区","rs141370078",{"$nulls":4},0.033,null,"纯合","未知","内含子突变",{"$nulls":4},4,null,3,0,"TUBGCP2",0.98,59,"非编码区",2500,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",10844,"10q26.3","NM_001256617"]
["32630A(747)v34899",95,33,0.3474,"32630A","TXNDC2","chr18:9886569-9886572","c.110-17(exon2)_c.110-14(exon2)delTATG","非编码区","rs112324257",{"$nulls":5},0.74,"杂合","未知","内含子突变",{"$nulls":4},4,null,8,0,"TXNDC2",1,360,"非编码区",2500,"0.3148=34/108","位于基因组单拷贝区域+简单重复结构",84203,"-","NM_001098529"]
["32630A(747)v34933",3,3,1,"32630A","T","chr6:166571525","c.*278A>G(exon9)","非编码区","rs3099270",0.78,0.89,0.92,0.86,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"叶酸敏感型神经管畸形","AR",601634,5,1,7,2,"T",1,82,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",6862,"6q27","NM_003181"]
["32630A(747)v34967",99,53,0.5354,"32630A","UBASH3A","chr21:43852232","c.1191C>T(exon9)","p.S397S","rs13052676",0.26,0.23,0.19,0.27,0.23,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"UBASH3A",1,120,"同义",13203,"0.5455=60/110","位于基因组单拷贝区域+DNA结构正常",53347,"21q22.3","NM_018961"]
["32630A(747)v35025",3,3,1,"32630A","UBR1","chr15:43236612","c.*915G>A(exon47)","非编码区","rs7178567",0.84,0.77,0.8,0.73,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Johanson-Blizzard综合征","AR",243800,5,1,3,1,"UBR1",1,190,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",197131,"15q13","NM_174916"]
["32630A(747)v35042",58,24,0.4138,"32630A","UBR4","chr1:19491857","c.4212-14A>G(exon31)","非编码区","rs3748757",0.72,0.8,0.79,0.81,0.79,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"UBR4",1,120,"非编码区",16202,"0.3846=25/65","位于基因组单拷贝区域+DNA结构正常",23352,"1p36.13","NM_020765"]
["32630A(747)v35097",111,58,0.5225,"32630A","UGDH","chr4:39515807-39515813","c.163-9(exon3)_c.163-3(exon3)delTCTTTTT","非编码区","rs151116497",null,0.25,0.18,0.31,0.026,0.26,"杂合","未知","内含子突变",{"$nulls":4},4,null,5,0,"UGDH",1,190,"非编码区",2500,"0.5081=63/124","位于基因组单拷贝区域+简单重复结构",7358,"4p15.1","NM_003359"]
["32630A(747)v35137",183,88,0.4809,"32630A","UGT1A7","chr2:234590975","c.392G>A(exon1)","p.R131Q","rs17868324",0.58,0.46,0.5,0.43,0.43,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17160896,{"$nulls":3},5,null,6,0,"UGT1A7",1,190,"非同义",12220,"0.4597=97/211","位于基因组多拷贝区域+DNA结构正常",54577,"2q37","NM_019077"]
["32630A(747)v35151",259,115,0.444,"32630A","UGT2B11","chr4:70080093","c.348G>A(exon1)","p.L116L","rs150042325",0.028,0.13,0.12,0.14,0.12,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"UGT2B11",1,430,"同义",13103,"0.4276=127/297","位于基因组多拷贝区域+DNA结构正常",10720,"4q13.2","NM_001073"]
["32630A(747)v35192",114,59,0.5175,"32630A","UIMC1","chr5:176378574","c.1344C>A(exon10)","p.T448T","rs365132",0.59,0.48,0.49,0.47,0.5,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19448621;22267201;23307926;23508249",{"$nulls":3},5,null,4,0,"UIMC1",1,130,"同义",13203,"0.5231=68/130","位于基因组单拷贝区域+DNA结构正常",51720,"5q35.2","NM_001199297"]
["32630A(747)v35226",123,123,1,"32630A","UMODL1","chr21:43522349","c.1044T>C(exon8)","p.S348S","rs220109",0.54,0.59,0.57,0.62,0.55,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"UMODL1",1,88,"同义",13203,"1.0000=142/142","位于基因组单拷贝区域+DNA结构正常",89766,"21q22.3","NM_001199527"]
["32630A(747)v35288",147,147,1,"32630A","UPK1B","chr3:118909962","c.468+11T>C(exon5)","非编码区","rs3796356",0.88,0.95,0.97,0.92,0.93,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"UPK1B",1,150,"非编码区",16203,"1.0000=165/165","位于基因组单拷贝区域+DNA结构正常",7348,"3q13.32","NM_006952"]
["32630A(747)v35335",95,95,1,"32630A","USH2A","chr1:215848641","c.12612A>G(exon63)","p.T4204T","rs2797235",0.69,0.62,0.61,0.63,0.63,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"视网膜色素变性39型-AR",null,613809,5,1,9,2,"USH2A",1,170,"同义",13203,"1.0000=109/109","位于基因组单拷贝区域+DNA结构正常",7399,"1q41","NM_206933",null,"rs2797235|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v35337",225,115,0.5111,"32630A","USH2A","chr1:216172380","c.6506T>C(exon34)","p.I2169T","rs10864219",0.59,0.83,0.83,0.82,0.83,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"视网膜色素变性39型-AR",null,613809,5,2,9,2,"USH2A",1,170,"非同义",12220,"0.5226=139/266","位于基因组单拷贝区域+DNA结构正常",7399,"1q41","NM_206933",null,"ILE2169THR|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v35400",107,59,0.5514,"32630A","USP34","chr2:61433872-61433876","c.9046+19(exon71)_c.9046+23(exon71)delCTTAT","非编码区","rs3217621",0.013,0.036,0.052,0.019,0.017,0.032,"杂合","未知","内含子突变",{"$nulls":4},4,null,6,0,"USP34",1,200,"非编码区",2500,"0.5317=67/126","位于基因组单拷贝区域+DNA结构正常",9736,"2p15","NM_014709"]
["32630A(747)v35419",113,112,0.9912,"32630A","USP38","chr4:144135718","c.2589G>A(exon9)","p.R863R","rs4285045",0.73,0.86,0.89,0.83,0.86,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"USP38",1,170,"同义",13203,"0.9854=135/137","位于基因组单拷贝区域+DNA结构正常",84640,"-","NM_032557"]
["32630A(747)v35462",299,120,0.4013,"32630A","USP6","chr17:5036281","c.272G>C(exon5)","p.S91T","rs76236903",{"$nulls":4},0.44,0.42,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,13,0,"USP6",1,240,"非同义",12320,"0.3827=137/358","位于基因组多拷贝区域+DNA结构正常",9098,"17p13","NM_004505"]
["32630A(747)v35536",7,4,0.5714,"32630A","VAMP8","chr2:85808982","c.*143T>C(exon3)","非编码区","rs1010",0.44,0.35,0.36,0.34,0.36,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17767904;18073581;18599554;19067766;19374688",{"$nulls":3},5,null,4,0,"VAMP8",1,150,"非编码区",14200,"0.5714=4/7","位于基因组单拷贝区域+DNA结构正常",8673,"2p12-p11.2","NM_003761"]
["32630A(747)v35560",50,21,0.42,"32630A","VAX2","chr2:71160076","c.615T>G(exon3)","p.P205P","rs200923058",0.0012,0.0048,0.0095,0,0.0027,0.0048,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"VAX2",1,39,"同义",13103,"0.4231=22/52","位于基因组单拷贝区域+DNA结构正常",25806,"2p13","NM_012476"]
["32630A(747)v35603",184,92,0.5,"32630A","VEZT","chr12:95681554","c.1443C>T(exon9)","p.H481H","rs12424550",0.099,0.14,0.15,0.14,0.15,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"VEZT",1,170,"同义",13203,"0.4879=101/207","位于基因组多拷贝区域+DNA结构正常",55591,"12q22","NM_017599"]
["32630A(747)v35648",90,46,0.5111,"32630A","VPS13B","chr8:100133706","c.1239T>G(exon8)","p.Y413X,3","rs7460625",0.71,0.51,0.52,0.5,0.54,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"科恩综合症","AR",216550,5,3,2,1,"VPS13B",1,170,"截断",15200,"0.4949=49/99","位于基因组单拷贝区域+DNA结构正常",157680,"8q22.2","NM_181661"]
["32630A(747)v35672",45,26,0.5778,"32630A","VPS28","chr8:145649520","c.457-5C>T(exon9)","非编码区",{"$nulls":7},"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"VPS28",1,53,"非编码区",16402,"0.5745=27/47","位于基因组单拷贝区域+DNA结构正常",51160,"8q24.3","NM_183057"]
["32630A(747)v35709",124,124,1,"32630A","VSIG10L","chr19:51844978","c.324C>A(exon2)","p.S108S","rs8105710",0.64,0.62,0.59,0.65,0.63,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"VSIG10L",1,75,"同义",13203,"1.0000=139/139","位于基因组单拷贝区域+DNA结构正常",147645,"19q13.41","NM_001163922"]
["32630A(747)v35742",168,83,0.494,"32630A","VWA3B","chr2:98866775","c.2674-6A>G(exon20)","非编码区","rs6747410",0.11,0.2,0.2,0.19,0.21,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"VWA3B",1,160,"非编码区",16202,"0.4588=89/194","位于基因组单拷贝区域+DNA结构正常",200403,"2q11.2","NM_144992"]
["32630A(747)v35789",44,44,1,"32630A","VWF","chr12:6105387","c.5844C>T(exon35)","p.C1948C","rs216902",0.46,0.73,0.76,0.7,0.74,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20346360,"II型 von Willebrand病","AD,AR",613554,5,1,13,3,"VWF",1,92,"同义",13202,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",7450,"12p13.3","NM_000552"]
["32630A(747)v35803",132,132,1,"32630A","WARS","chr14:100813077","c.826+6A>G(exon7)","非编码区","rs941923",0.7,0.79,0.79,0.8,0.79,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"WARS",1,120,"非编码区",16202,"1.0000=152/152","位于基因组单拷贝区域+DNA结构正常",7453,"14q32.31","NM_004184"]
["32630A(747)v35845",88,44,0.5,"32630A","WDR11","chr10:122665459","c.3363C>G(exon27)","p.V1121V","rs3740307",0.16,0.33,0.31,0.35,0.29,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"促性腺激素分泌不足的性腺功能低下症,伴或不伴嗅觉丧失14型","AD",614858,5,1,8,1,"WDR11",1,200,"同义",13203,"0.4894=46/94","位于基因组单拷贝区域+DNA结构正常",55717,"10q26","NM_018117"]
["32630A(747)v35898",80,80,1,"32630A","WDR43","chr2:29169612","c.2001T>C(exon18)","p.D667D","rs3087649",0.76,0.86,0.88,0.84,0.86,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"WDR43",1,190,"同义",13203,"1.0000=88/88","位于基因组单拷贝区域+DNA结构正常",23160,"2p23.2","NM_015131"]
["32630A(747)v35916",159,159,1,"32630A","WDR49","chr3:167217964","c.1952T>C(exon14)","p.L651P","rs13060964",0.36,0.48,0.47,0.5,0.46,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"WDR49",1,190,"非同义",12220,"1.0000=180/180","位于基因组单拷贝区域+DNA结构正常",151790,"3q26.1","NM_178824"]
["32630A(747)v35955",72,72,1,"32630A","WDR66","chr12:122359397-122359398","c.186(exon2)_c.187(exon2)insGAGGAGGAGGAGAAA","p.G62_E63insEEEEK","rs142042908",{"$nulls":4},0.017,0.83,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,6,0,"WDR66",0.98,150,"非移码",2232,"1.0000=80/80","位于基因组单拷贝区域+DNA结构正常",144406,"12q24.31","NM_144668"]
["32630A(747)v35991",6,3,0.5,"32630A","WDR7","chr18:54694550","c.*112C>T(exon28)","非编码区","rs3745032",0.023,0.043,0.043,0.044,0.022,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"WDR7",1,180,"非编码区",14100,"0.6250=5/8","位于基因组单拷贝区域+DNA结构正常",23335,"18q21.31","NM_015285"]
["32630A(747)v36053",32,17,0.5312,"32630A","WDSUB1","chr2:160092388-160092388","c.*156(exon11)delA","非编码区","rs34183718",0.47,0.3,0.3,0.3,0,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"WDSUB1",1,190,"非编码区",2420,"0.5526=21/38","位于基因组单拷贝区域+简单重复结构",151525,"2q24.2","NM_001128213"]
["32630A(747)v36088",69,69,1,"32630A","WFS1","chr4:6302519","c.997G>A(exon8)","p.V333I","rs1801212",0.88,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;21726277","WOLFRAM 样综合征（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AD",614296,5,1,13,5,"WFS1",1,54,"非同义",12220,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_006005","VAL333ILE|\"Wolframin_variant\"|21726277","VAL333ILE|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v36092",25,25,1,"32630A","WFS1","chr4:6303955","c.2433G>A(exon8)","p.K811K","rs1046314",0.65,0.93,0.87,0.98,0.94,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;12107816","常染色体显性遗传耳聋","AD",600965,5,1,13,5,"WFS1",1,54,"同义",13203,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_006005","rs1046314|\"Diabetes_type_1_association_with\"|12107816","rs1046314|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32630A(747)v36125",15,15,1,"32630A","WNK1","chr12:862989","c.258T>C(exon1)","p.C86C","rs3168640",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"假性醛固酮减少症2C型","AD",614492,5,1,10,2,"WNK1",0.97,120,"同义",13203,"1.0000=17/17","位于基因组单拷贝区域+DNA结构正常",65125,"12p13.3","NM_001184985"]
["32630A(747)v36170",7,7,1,"32630A","WT1","chr11:32410337","c.*267G>C(exon10)","非编码区","rs5030317",0.59,0.75,0.72,0.77,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Wilms瘤1型","AD",194070,5,1,3,6,"WT1",1,78,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",7490,"11p13","NM_024426"]
["32630A(747)v36170",7,7,1,"32630A","WT1","chr11:32410337","c.*267G>C(exon10)","非编码区","rs5030317",0.59,0.75,0.72,0.77,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Meacham综合症",null,608978,5,1,3,6,"WT1",1,78,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",7490,"11p13","NM_024426"]
["32630A(747)v36226",154,154,1,"32630A","XKR3","chr22:17265124","c.765T>G(exon4)","p.F255L","rs5748623",0.69,0.49,0.48,0.5,0.86,0.0046,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"XKR3",1,150,"非同义",12220,"1.0000=176/176","位于基因组多拷贝区域+DNA结构正常",150165,"22q11.1","NM_175878"]
["32630A(747)v36252",38,38,1,"32630A","XRCC1","chr19:44055726","c.1196A>G(exon10)","p.Q399R","rs25487",0.74,0.77,0.79,0.75,0.73,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","11104903;16465622;16857995;16931584;17267408",{"$nulls":3},5,null,5,0,"XRCC1",1,75,"非同义",12220,"1.0000=41/41","位于基因组单拷贝区域+DNA结构正常",7515,"19q13.2","NM_006297","rs25487|\"Increased_lung_cancer_risk_association_with\"|11104903"]
["32630A(747)v36297",90,49,0.5444,"32630A","YEATS2","chr3:183521819","c.3627G>A(exon27)","p.L1209L","rs117722758",6.6E-3,0.062,0.071,0.053,0.039,0.035,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"YEATS2",1,150,"同义",13103,"0.5755=61/106","位于基因组单拷贝区域+DNA结构正常",55689,"3q27.1","NM_018023"]
["32630A(747)v36350",62,30,0.4839,"32630A","ZAN","chr7:100348384","c.1386T>C(exon12)","p.G462G","rs2293768",0.19,0.46,0.46,0.46,0.46,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ZAN",1,160,"同义",13203,"0.4615=30/65","位于基因组单拷贝区域+DNA结构正常",7455,"7q22","NM_003386"]
["32630A(747)v36372",27,14,0.5185,"32630A","ZAR1","chr4:48496368","c.*107A>G(exon4)","非编码区","rs17472127",0.16,0.11,0.09,0.13,0.1,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZAR1",0.99,62,"非编码区",14200,"0.5357=15/28","位于基因组单拷贝区域+DNA结构正常",326340,"4p11","NM_175619"]
["32630A(747)v36429",48,48,1,"32630A","ZBTB5","chr9:37441808","c.741T>C(exon2)","p.D247D","rs309450",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZBTB5",1,63,"同义",13203,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",9925,"9p13.2","NM_014872"]
["32630A(747)v36479",108,108,1,"32630A","ZCCHC2","chr18:60241732","c.2418C>T(exon13)","p.P806P","rs3744926",0.48,0.79,0.8,0.78,0.75,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZCCHC2",0.97,110,"同义",13203,"1.0000=116/116","位于基因组单拷贝区域+DNA结构正常",54877,"18q21.33","NM_017742"]
["32630A(747)v36504",31,10,0.3226,"32630A","ZDHHC11","chr5:843745","c.598G>A(exon4)","p.G200R","rs71591189",{"$nulls":4},0.1,1.2E-4,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"ZDHHC11",1,130,"非同义",12320,"0.3514=13/37","位于基因组多拷贝区域+DNA结构正常",79844,"5p15.33","NM_024786"]
["32630A(747)v36535",76,35,0.4605,"32630A","ZFAND6","chr15:80414173","c.263+11C>G(exon4)","非编码区","rs1522636",0.66,0.49,0.48,0.5,0.5,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZFAND6",1,190,"非编码区",16203,"0.4819=40/83","位于基因组单拷贝区域+DNA结构正常",54469,"15q25.1","NM_019006"]
["32630A(747)v36578",22,22,1,"32630A","ZFPM1","chr16:88599703-88599705","c.1337(exon10)_c.1339(exon10)delTGG","p.L446_A447delinsP","rs67873604",0.97,1,1,1,null,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZFPM1",0.94,23,"非移码",2223,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",161882,"16q24.2","NM_153813"]
["32630A(747)v36629",12,4,0.3333,"32630A","ZIC1","chr3:147131502","c.*164G>A(exon3)","非编码区","rs4467417",0.12,0.23,0.22,0.25,0.19,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZIC1",1,83,"非编码区",14200,"0.3333=4/12","位于基因组单拷贝区域+DNA结构正常",7545,"3q24","NM_003412"]
["32630A(747)v36645",180,179,0.9944,"32630A","ZKSCAN2","chr16:25263278","c.757C>T(exon4)","p.L253F","rs2112811",0.33,0.31,0.31,0.31,0.33,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZKSCAN2",1,96,"非同义",12220,"0.9950=200/201","位于基因组单拷贝区域+DNA结构正常",342357,"16p12.1","NM_001012981"]
["32630A(747)v36684",147,147,1,"32630A","ZNF107","chr7:64169019","c.2337G>A(exon7)","p.E779E","rs4717205",0.81,0.79,0.77,0.81,0.94,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF107",1,170,"同义",13203,"1.0000=162/162","位于基因组多拷贝区域+DNA结构正常",51427,"7q11.2","NM_016220"]
["32630A(747)v36760",92,42,0.4565,"32630A","ZNF174","chr16:3452193","c.189T>G(exon1)","p.A63A","rs37811",0.92,0.9,0.9,0.91,0.91,0.9,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF174",1,120,"同义",13203,"0.4706=48/102","位于基因组单拷贝区域+DNA结构正常",7727,"16p13.3","NM_003450"]
["32630A(747)v36779",151,78,0.5166,"32630A","ZNF187","chr6:28239873","c.176A>G(exon2)","p.Y59C","rs16893892",0.078,0.25,0.3,0.19,0.18,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF187",1,140,"非同义",12210,"0.5058=87/172","位于基因组单拷贝区域+DNA结构正常",7741,"6p21.31","NM_001023560"]
["32630A(747)v36813",20,11,0.55,"32630A","ZNF214","chr11:7020920","c.*173A>T(exon3)","非编码区","rs2252765",0.21,0.14,0.13,0.15,0.14,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF214",1,130,"非编码区",14200,"0.5455=12/22","位于基因组单拷贝区域+DNA结构正常",7761,"11p15.4","NM_013249"]
["32630A(747)v36850",120,52,0.4333,"32630A","ZNF230","chr19:44511202","c.-29A>T(exon2)","非编码区","rs2356549",0.53,0.33,0.34,0.32,0.34,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF230",1,260,"非编码区",14200,"0.4357=61/140","位于基因组单拷贝区域+DNA结构正常",7773,"19q13.31","NM_006300"]
["32630A(747)v36911",73,31,0.4247,"32630A","ZNF280A","chr22:22869538","c.417T>C(exon2)","p.D139D","rs361611",0.47,0.43,0.41,0.45,0.46,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"ZNF280A",1,120,"同义",13203,"0.4615=36/78","位于基因组单拷贝区域+DNA结构正常",129025,"22q11.22","NM_080740"]
["32630A(747)v36967",109,109,1,"32630A","ZNF304","chr19:57865082","c.34-11T>C(exon2)","非编码区","rs862703",0.76,0.94,0.94,0.95,0.95,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24866319,{"$nulls":3},5,null,2,0,"ZNF304",1,190,"非编码区",16202,"1.0000=125/125","位于基因组单拷贝区域+DNA结构正常",57343,"19q13.4","NM_020657"]
["32630A(747)v37013",223,98,0.4395,"32630A","ZNF354B","chr5:178294059","c.243T>C(exon4)","p.G81G","rs11952817",0.3,0.16,0.19,0.14,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF354B",1,200,"同义",13203,"0.4405=111/252","位于基因组多拷贝区域+DNA结构正常",117608,"5q35.3","NM_058230"]
["32630A(747)v37042",119,119,1,"32630A","ZNF398","chr7:148851213","c.201G>A(exon2)","p.L67L","rs917124",0.71,0.97,0.97,0.97,0.96,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF398",1,96,"同义",13203,"1.0000=134/134","位于基因组多拷贝区域+DNA结构正常",57541,"7q36.1","NM_170686"]
["32630A(747)v37070",93,47,0.5054,"32630A","ZNF419","chr19:58001512","c.34-3T>A(exon2)","非编码区","rs11672136",0.44,0.62,0.58,0.66,0.62,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20011102,{"$nulls":3},5,null,10,0,"ZNF419",1,230,"非编码区",16201,"0.5688=62/109","位于基因组多拷贝区域+DNA结构正常",79744,"19q13.43","NM_001098491"]
["32630A(747)v37117",101,55,0.5446,"32630A","ZNF443","chr19:12551715","c.3+11T>G(exon1)","非编码区","rs11881297",0.65,0.45,0.43,0.47,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"ZNF443",1,260,"非编码区",16203,"0.5455=66/121","位于基因组多拷贝区域+DNA结构正常",10224,"19p13.2","NM_005815"]
["32630A(747)v37174",216,100,0.463,"32630A","ZNF486","chr19:20295146","c.31-19G>A(exon2)","非编码区","rs1097510",0.29,0.47,0.42,0.52,0.53,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF486",1,240,"非编码区",16202,"0.4373=115/263","位于基因组多拷贝区域+DNA结构正常",90649,"19p12","NM_052852"]
["32630A(747)v37199",62,36,0.5806,"32630A","ZNF493","chr19:21608275","c.*489C>T(exon4)","非编码区","rs77607757",0.29,0.35,0.4,0.29,0.36,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ZNF493",0.98,190,"非编码区",14200,"0.5821=39/67","位于基因组多拷贝区域+DNA结构正常",284443,"19p12","NM_001076678"]
["32630A(747)v37249",38,38,1,"32630A","ZNF528","chr19:52920006-52920007","c.*14(exon7)_c.*15(exon7)insTG","非编码区","rs10664588",0.71,0.69,0.71,0.66,0.47,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF528",1,170,"非编码区",2420,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",84436,"19q13","NM_032423"]
["32630A(747)v37297",123,55,0.4472,"32630A","ZNF565","chr19:36674305","c.563T>C(exon5)","p.I188T","rs4805162",0.63,0.65,0.63,0.67,0.67,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF565",1,130,"非同义",12220,"0.4453=61/137","位于基因组多拷贝区域+DNA结构正常",147929,"19q13.12","NM_001042474"]
["32630A(747)v37324",9,4,0.4444,"32630A","ZNF579","chr19:56089908-56089909","c.1097(exon2)_c.1098(exon2)insCGG","p.G366delinsGG","rs113850871",0.6,0.24,0.3,0.18,0.15,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF579",1,19,"非移码",2223,"0.4444=4/9","位于基因组单拷贝区域+DNA结构正常",163033,"19q13.42","NM_152600"]
["32630A(747)v37354",34,34,1,"32630A","ZNF595","chr4:86024","c.629G>A(exon4)","p.R210K","rs77715101",1,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,17,0,"ZNF595",1,340,"非同义",12230,"1.0000=39/39","位于基因组多拷贝区域+DNA结构正常",152687,"4p16.3","NM_182524"]
["32630A(747)v37395",118,52,0.4407,"32630A","ZNF614","chr19:52529074","c.-76A>G(exon2)","非编码区","rs6509613",0.22,0.16,0.15,0.17,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF614",1,150,"非编码区",14200,"0.4354=64/147","位于基因组单拷贝区域+DNA结构正常",80110,"19q13.41","NM_025040"]
["32630A(747)v37452",6,6,1,"32630A","ZNF654","chr3:88191144","c.*342A>T(exon2)","非编码区","rs56099925",null,0.82,0.84,0.81,0.65,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"ZNF654",1,150,"非编码区",14300,"1.0000=7/7","位于基因组多拷贝区域+DNA结构正常",55279,"3p11.1","NM_018293"]
["32630A(747)v37512",2,2,1,"32630A","ZNF692","chr1:249153050","c.-337A>G(exon1)","非编码区","rs114953006",0.098,0.16,0.19,0.14,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF692",1,77,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",55657,"1q44","NM_001136036"]
["32630A(747)v37527",118,52,0.4407,"32630A","ZNF701","chr19:53085813","c.699T>C(exon5)","p.A233A","rs3745101",0.29,0.36,0.33,0.38,0.42,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF701",1,250,"同义",13203,"0.4361=58/133","位于基因组多拷贝区域+DNA结构正常",55762,"19q13.41","NM_001172655"]
["32630A(747)v37581",485,327,0.6742,"32630A","ZNF717","chr3:75786080","c.2694C>T(exon5)","p.D898D","rs144586950",{"$nulls":4},0.5,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,139,0,"ZNF717",1,420,"同义",13303,"0.6922=389/562","位于基因组多拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223"]
["32630A(747)v37602",326,87,0.2669,"32630A","ZNF717","chr3:75786423-75786424","c.2350(exon5)_c.2351(exon5)insGA","p.K784Rfs*111","rs376804900",{"$nulls":4},0.044,null,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,139,0,"ZNF717",1,420,"移码",2130,"0.2677=102/381","位于基因组单拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223"]
["32630A(747)v37679",256,149,0.582,"32630A","ZNF717","chr3:75788028","c.746C>G(exon5)","p.S249X,666","rs77971486",{"$nulls":4},0.4,null,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,139,0,"ZNF717",1,420,"截断",15300,"0.5882=180/306","位于基因组单拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223"]
["32630A(747)v37719",252,137,0.5437,"32630A","ZNF727","chr7:63537849","c.422G>A(exon4)","p.R141H","rs4717170",0.63,0.66,0.65,0.67,0.62,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF727",1,230,"非同义",12220,"0.5544=158/285","位于基因组多拷贝区域+DNA结构正常",442319,"7q11.21","NM_001159522"]
["32630A(747)v37740",233,119,0.5107,"32630A","ZNF737","chr19:20735272","c.226+9A>G(exon3)","非编码区","rs7251976",0.46,0.52,0.51,0.52,0.49,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF737",1,230,"非编码区",16203,"0.5056=135/267","位于基因组多拷贝区域+DNA结构正常",100129842,"19p12","NM_001159293"]
["32630A(747)v37794",82,37,0.4512,"32630A","ZNF778","chr16:89293291","c.595G>A(exon7)","p.V199M","rs117690401",0.041,0.082,0.09,0.073,0.081,0.085,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,15,0,"ZNF778",1,130,"非同义",12120,"0.4565=42/92","位于基因组单拷贝区域+DNA结构正常",197320,"16q24.3","NM_001201407"]
["32630A(747)v37809",75,75,1,"32630A","ZNF782","chr9:99581811","c.494G>A(exon6)","p.R165H","rs4645656",0.27,0.32,0.29,0.35,0.32,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF782",1,140,"非同义",12220,"1.0000=96/96","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662"]
["32630A(747)v37847",73,32,0.4384,"32630A","ZNF806","chr2:133074745","c.206A>T(exon4)","p.E69V","rs7355686",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4321=35/81","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37848",77,33,0.4286,"32630A","ZNF806","chr2:133074759","c.220A>C(exon4)","p.K74Q","rs62169564",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4186=36/86","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37849",101,36,0.3564,"32630A","ZNF806","chr2:133074851","c.312A>T(exon4)","p.V104V","rs7355688",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,37,0,"ZNF806",null,null,"同义",13303,"0.3814=45/118","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37850",102,38,0.3725,"32630A","ZNF806","chr2:133074876","c.337A>G(exon4)","p.M113V","rs7355689",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.3761=44/117","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37851",94,46,0.4894,"32630A","ZNF806","chr2:133075027","c.488G>A(exon4)","p.G163E","rs7349198",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4906=52/106","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37852",93,50,0.5376,"32630A","ZNF806","chr2:133075104","c.565C>T(exon4)","p.R189C","rs7349364",0.0004,0,0,0,null,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12130,"0.5200=52/100","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37853",91,39,0.4286,"32630A","ZNF806","chr2:133075207","c.668C>T(exon4)","p.A223V","rs7349365",0.0004,0,0,0,null,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12130,"0.4194=39/93","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37854",73,27,0.3699,"32630A","ZNF806","chr2:133075282","c.743T>C(exon4)","p.V248A","rs7349446",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.3649=27/74","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37855",67,27,0.403,"32630A","ZNF806","chr2:133075298","c.759T>C(exon4)","p.H253H","rs75737268",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,37,0,"ZNF806",null,null,"同义",13303,"0.3971=27/68","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37856",58,26,0.4483,"32630A","ZNF806","chr2:133075364","c.825T>C(exon4)","p.I275I","rs7349447",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,37,0,"ZNF806",null,null,"同义",13303,"0.4500=27/60","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37857",56,25,0.4464,"32630A","ZNF806","chr2:133075365","c.826G>A(exon4)","p.V276I","rs7349215",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4483=26/58","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37858",60,30,0.5,"32630A","ZNF806","chr2:133075386","c.847G>A(exon4)","p.G283R","rs7349216",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.5000=32/64","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37859",62,35,0.5645,"32630A","ZNF806","chr2:133075409","c.870T>C(exon4)","p.H290H","rs7349448",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,37,0,"ZNF806",null,null,"同义",13303,"0.5606=37/66","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37860",128,62,0.4844,"32630A","ZNF806","chr2:133075479-133075479","c.940(exon4)delC","p.Y315Tfs*?","rs111944984",{"$nulls":4},0.032,null,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,37,0,"ZNF806",null,null,"移码",2130,"0.4571=64/140","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37861",228,95,0.4167,"32630A","ZNF806","chr2:133075602","c.1063A>C(exon4)","p.R355R","rs7340473",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,37,0,"ZNF806",null,null,"同义",13303,"0.4200=105/250","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37862",223,91,0.4081,"32630A","ZNF806","chr2:133075612","c.1073C>T(exon4)","p.P358L","rs11491243",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4139=101/244","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37863",221,91,0.4118,"32630A","ZNF806","chr2:133075615","c.1076G>C(exon4)","p.C359S","rs76315261",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4174=101/242","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37864",210,97,0.4619,"32630A","ZNF806","chr2:133075639","c.1100G>T(exon4)","p.G367V","rs7340191",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4658=109/234","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37865",193,95,0.4922,"32630A","ZNF806","chr2:133075664","c.1125T>G(exon4)","p.D375E","rs7340499",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4977=108/217","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37866",185,90,0.4865,"32630A","ZNF806","chr2:133075674","c.1135G>C(exon4)","p.G379R","rs7340192",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4928=103/209","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37867",155,73,0.471,"32630A","ZNF806","chr2:133075726","c.1187A>G(exon4)","p.E396G","rs2598810",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4651=80/172","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37868",108,56,0.5185,"32630A","ZNF806","chr2:133075904-133075905","c.1365(exon4)_c.1367(exon4)insA","p.XAA456Kfs*?","rs113311843",{"$nulls":4},0.047,null,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,37,0,"ZNF806",null,null,"移码",2130,"0.5082=62/122","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37869",132,65,0.4924,"32630A","ZNF806","chr2:133076032","c.1494T>G(exon4)","p.F498L","rs2598809",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4845=78/161","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37870",141,63,0.4468,"32630A","ZNF806","chr2:133076048","c.1510A>G(exon4)","p.N504D","rs2598808",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.4438=75/169","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37871",160,70,0.4375,"32630A","ZNF806","chr2:133076118-133076118","c.1579(exon4)delA","p.N527Mfs*?","rs111405036",{"$nulls":4},0.082,null,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,37,0,"ZNF806",null,null,"移码",2130,"0.4341=79/182","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37872",159,76,0.478,"32630A","ZNF806","chr2:133076155","c.1616G>A(exon4)","p.C539Y","rs2677622",0.0004,0,0,0,null,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12130,"0.4615=84/182","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37873",144,76,0.5278,"32630A","ZNF806","chr2:133076206","c.1667C>T(exon4)","p.A556V","rs2598807",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.5215=85/163","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37874",142,77,0.5423,"32630A","ZNF806","chr2:133076221","c.1682G>A(exon4)","p.R561H","rs7340213",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.5342=86/161","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37875",140,72,0.5143,"32630A","ZNF806","chr2:133076229","c.1690A>G(exon4)","p.K564E","rs2598806",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"ZNF806",null,null,"非同义",12330,"0.5063=80/158","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32630A(747)v37876",45,17,0.3778,"32630A","ZNF808","chr19:53059235","c.*354T>G(exon5)","非编码区","rs9676916",0.3,0.5,0.48,0.52,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF808",1,270,"非编码区",14200,"0.4314=22/51","位于基因组多拷贝区域+DNA结构正常",388558,"19q13.41","NM_001039886"]
["32630A(747)v37877",92,40,0.4348,"32630A","ZNF80","chr3:113955164","c.758A>C(exon1)","p.D253A","rs3732782",0.69,0.56,0.6,0.53,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19217756,{"$nulls":3},5,null,4,0,"ZNF80",1,110,"非同义",12220,"0.4286=42/98","位于基因组单拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136"]
["32630A(747)v37878",99,39,0.3939,"32630A","ZNF80","chr3:113955265","c.657C>T(exon1)","p.C219C","rs6438190",0.69,0.56,0.59,0.53,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"同义",13203,"0.4397=51/116","位于基因组多拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136"]
["32630A(747)v37879",99,39,0.3939,"32630A","ZNF80","chr3:113955320","c.602G>A(exon1)","p.R201H","rs6438191",0.69,0.56,0.59,0.53,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"非同义",12220,"0.4561=52/114","位于基因组多拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136"]
["32630A(747)v37880",64,31,0.4844,"32630A","ZNF80","chr3:113955820","c.102C>G(exon1)","p.S34S","rs3732780",0.31,0.38,0.42,0.34,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"同义",13203,"0.5316=42/79","位于基因组单拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136"]
["32630A(747)v37881",571,201,0.352,"32630A","ZNF813","chr19:53989945","c.75G>A(exon3)","p.L25L","rs34008652",{"$nulls":4},0.14,0.16,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,350,"同义",13303,"0.3497=249/712","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37882",558,179,0.3208,"32630A","ZNF813","chr19:53989975","c.105C>T(exon3)","p.D35D","rs2708793",{"$nulls":4},0.18,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,350,"同义",13303,"0.3257=228/700","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37883",534,216,0.4045,"32630A","ZNF813","chr19:53990002","c.132G>A(exon3)","p.L44L","rs12974996",{"$nulls":4},0.25,0.28,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"ZNF813",1,350,"同义",13303,"0.4009=269/671","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37884",184,99,0.538,"32630A","ZNF813","chr19:53993670","c.184G>A(exon4)","p.A62T","rs2617667",0.3,0.24,0.2,0.28,0.22,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"非同义",12220,"0.5336=119/223","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37885",248,122,0.4919,"32630A","ZNF813","chr19:53993764","c.278A>T(exon4)","p.D93V","rs12609217",0.06,0.21,0.24,0.17,0.2,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"非同义",12210,"0.5000=142/284","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37886",270,127,0.4704,"32630A","ZNF813","chr19:53993988","c.502A>T(exon4)","p.I168F","rs12460628",0.092,0.11,0.095,0.13,0.096,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"非同义",12210,"0.4860=156/321","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37887",225,89,0.3956,"32630A","ZNF813","chr19:53994178","c.692G>A(exon4)","p.R231K","rs10421308",0.092,0.11,0.095,0.13,0.096,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"非同义",12220,"0.4348=120/276","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37888",262,262,1,"32630A","ZNF813","chr19:53995004","c.1518G>A(exon4)","p.R506R","rs2708845",0.78,0.64,0.65,0.64,0.61,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"同义",13203,"1.0000=316/316","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37889",87,37,0.4253,"32630A","ZNF813","chr19:53995530","c.*190A>C(exon4)","非编码区","rs10402859",0.093,0.11,0.095,0.13,0.094,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"非编码区",14200,"0.4356=44/101","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37890",101,53,0.5248,"32630A","ZNF813","chr19:53995750","c.*410C>T(exon4)","非编码区","rs2708843",0.5,0.31,0.28,0.34,0.28,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"非编码区",14200,"0.5089=57/112","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37891",48,25,0.5208,"32630A","ZNF813","chr19:53996130-53996131","c.*790(exon4)_c.*791(exon4)insAT","非编码区","rs58474905",0.31,0.24,0.2,0.28,0.19,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"非编码区",2420,"0.5185=28/54","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37892",20,6,0.3,"32630A","ZNF813","chr19:53996295","c.*955C>T(exon4)","非编码区","rs10409961",0.091,0.11,0.095,0.13,0.087,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF813",1,350,"非编码区",14200,"0.3000=6/20","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32630A(747)v37893",99,47,0.4747,"32630A","ZNF814","chr19:58383921","c.*269G>A(exon3)","非编码区","rs4801239",0.81,0.72,0.76,0.68,0.74,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF814",1,230,"非编码区",14200,"0.4727=52/110","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989"]
["32630A(747)v37894",81,36,0.4444,"32630A","ZNF816","chr19:53452769","c.*303T>C(exon5)","非编码区","rs1044467",0.45,0.32,0.33,0.3,0.34,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF816",1,250,"非编码区",14200,"0.4719=42/89","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32630A(747)v37895",104,49,0.4712,"32630A","ZNF816","chr19:53452944","c.*128A>C(exon5)","非编码区","rs1808106",0.45,0.32,0.33,0.3,0.34,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF816",1,250,"非编码区",14200,"0.4609=53/115","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32630A(747)v37896",110,52,0.4727,"32630A","ZNF816","chr19:53452965","c.*107G>A(exon5)","非编码区","rs3745177",0.35,0.37,0.38,0.35,0.38,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF816",1,250,"非编码区",14200,"0.4640=58/125","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32630A(747)v37897",184,85,0.462,"32630A","ZNF816","chr19:53453777","c.1251G>A(exon5)","p.K417K","rs8110062",{"$nulls":4},0.34,0.34,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"ZNF816",1,250,"同义",13303,"0.4698=101/215","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32630A(747)v37898",143,71,0.4965,"32630A","ZNF816","chr19:53454387","c.641C>G(exon5)","p.S214C","rs57088011",0.05,0.082,0.062,0.1,0.074,0.054,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,7,0,"ZNF816",1,250,"非同义",12110,"0.5032=79/157","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32630A(747)v37899",172,83,0.4826,"32630A","ZNF816","chr19:53454475-53454476","c.552(exon5)_c.553(exon5)insAGT","p.I184_G185insS","rs33949217",0.47,0.21,0.24,0.17,0.37,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF816",1,250,"非移码",2222,"0.4772=94/197","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32630A(747)v37900",127,60,0.4724,"32630A","ZNF816","chr19:53454789","c.239T>A(exon5)","p.I80N","rs12459008",0.46,0.31,0.33,0.3,0.34,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24212883,{"$nulls":3},5,null,7,0,"ZNF816",1,250,"非同义",12220,"0.4487=70/156","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665","rs12459008|\"Psoriasis_reduced_risk\"|24212883"]
["32630A(747)v37901",62,62,1,"32630A","ZNF81","chrX:47705684","c.18C>T(exon2)","p.D6D","rs145478020",null,0.16,0.15,0.17,0.13,0.17,"半合子","未知","预测范围之外的同义突变",18414213,"智力低下45型",null,300498,4,1,1,1,"ZNF81",1,94,"同义",13303,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",347344,"Xp11.23","NM_007137",null,"rs145478020|Benign|NA|NA|criteria provided, single submitter|PubMed:18414213"]
["32630A(747)v37902",17,8,0.4706,"32630A","ZNF823","chr19:11832283","c.*233T>C(exon4)","非编码区","rs5851",0.52,0.48,0.5,0.46,0.49,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF823",1,220,"非编码区",14200,"0.4500=9/20","位于基因组单拷贝区域+DNA结构正常",55552,"19p13.2","NM_001080493"]
["32630A(747)v37903",46,46,1,"32630A","ZNF830","chr17:33288882","c.297T>G(exon1)","p.H99Q","rs931196",0.88,0.95,0.95,0.94,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF830",1,120,"非同义",12220,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857"]
["32630A(747)v37904",82,38,0.4634,"32630A","ZNF830","chr17:33289046","c.461G>C(exon1)","p.S154T","rs3744355",0.13,0.35,0.32,0.38,0.28,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF830",1,120,"非同义",12220,"0.4316=41/95","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857"]
["32630A(747)v37905",2,2,1,"32630A","ZNF830","chr17:33289937","c.*233A>T(exon1)","非编码区","rs8249",0.55,0.84,0.86,0.83,0.79,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF830",1,120,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857"]
["32630A(747)v37906",61,29,0.4754,"32630A","ZNF831","chr20:57829301","c.4537T>C(exon5)","p.S1513P","rs259956",0.62,0.89,0.89,0.89,0.86,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF831",1,65,"非同义",12220,"0.5072=35/69","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457"]
["32630A(747)v37907",41,25,0.6098,"32630A","ZNF831","chr20:57829821-57829822","c.*23(exon5)_c.*24(exon5)insTT","非编码区","rs528101238",0.62,0.89,0.89,0.89,0.095,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF831",1,65,"非编码区",2420,"0.5870=27/46","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457"]
["32630A(747)v37908",2,2,1,"32630A","ZNF831","chr20:57834150","c.*4352A>T(exon5)","非编码区","rs2273869",0.55,0.74,0.78,0.71,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF831",1,65,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457"]
["32630A(747)v37909",66,66,1,"32630A","ZNF835","chr19:57175484","c.1083T>C(exon2)","p.P361P","rs7250003",0.47,0.47,0.46,0.47,0.49,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF835",1,79,"同义",13203,"1.0000=77/77","位于基因组多拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32630A(747)v37910",73,73,1,"32630A","ZNF835","chr19:57176198","c.369A>C(exon2)","p.S123S","rs8108756",0.47,0.46,0.45,0.47,0.48,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF835",1,79,"同义",13203,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32630A(747)v37911",85,85,1,"32630A","ZNF835","chr19:57176304","c.263A>C(exon2)","p.E88A","rs12460400",0.4,0.46,0.46,0.47,0.48,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF835",1,79,"非同义",12220,"1.0000=98/98","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32630A(747)v37912",47,47,1,"32630A","ZNF835","chr19:57176482","c.85G>A(exon2)","p.E29K","rs12462469",0.41,0.46,0.46,0.47,0.48,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF835",1,79,"非同义",12220,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32630A(747)v37913",117,58,0.4957,"32630A","ZNF836","chr19:52659991","c.945T>C(exon5)","p.Y315Y","rs1821278",0.5,0.59,0.6,0.58,0.57,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF836",1,170,"同义",13203,"0.5037=68/135","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657"]
["32630A(747)v37914",100,54,0.54,"32630A","ZNF836","chr19:52660279","c.657G>A(exon5)","p.M219I","rs1366245",0.48,0.59,0.6,0.58,0.57,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF836",1,170,"非同义",12220,"0.5398=61/113","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657"]
["32630A(747)v37915",71,37,0.5211,"32630A","ZNF836","chr19:52660783","c.153T>C(exon5)","p.P51P","rs17696575",0.2,0.19,0.17,0.21,0.21,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF836",1,170,"同义",13203,"0.5185=42/81","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657"]
["32630A(747)v37916",21,11,0.5238,"32630A","ZNF837","chr19:58879660","c.1040A>G(exon3)","p.Y347C","rs61746138",0.15,0.33,0.3,0.36,0.29,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"非同义",12220,"0.5417=13/24","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32630A(747)v37917",27,11,0.4074,"32630A","ZNF837","chr19:58879701","c.999G>C(exon3)","p.A333A","rs61746129",0.15,0.33,0.3,0.36,0.29,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"同义",13203,"0.4138=12/29","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32630A(747)v37918",15,15,1,"32630A","ZNF837","chr19:58879965","c.735T>C(exon3)","p.S245S","rs7255489",0.88,0.91,0.93,0.89,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"同义",13203,"1.0000=15/15","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32630A(747)v37919",13,13,1,"32630A","ZNF837","chr19:58879976","c.724G>A(exon3)","p.A242T","rs7255596",0.88,0.91,0.93,0.89,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"非同义",12220,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32630A(747)v37920",10,4,0.4,"32630A","ZNF837","chr19:58880016","c.684C>G(exon3)","p.A228A","rs7255916",0.12,0.33,0.3,0.36,0.3,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"同义",13203,"0.5000=6/12","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32630A(747)v37921",40,18,0.45,"32630A","ZNF837","chr19:58880184","c.516A>G(exon3)","p.P172P","rs7256809",0.15,0.33,0.3,0.36,0.29,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"同义",13203,"0.4651=20/43","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32630A(747)v37922",45,15,0.3333,"32630A","ZNF837","chr19:58880242","c.458A>G(exon3)","p.Q153R","rs7256940",0.15,0.33,0.3,0.37,0.3,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"非同义",12220,"0.3265=16/49","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32630A(747)v37923",84,84,1,"32630A","ZNF839","chr14:102808330","c.2598C>T(exon8)","p.V866V","rs12590618",0.27,0.5,0.53,0.48,0.47,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF839",1,90,"同义",13203,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_018335"]
["32630A(747)v37924",8,8,1,"32630A","ZNF839","chr14:102808655","c.*139G>C(exon8)","非编码区","rs11704",0.27,0.51,0.54,0.48,0.46,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF839",1,90,"非编码区",14200,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_018335"]
["32630A(747)v37925",41,16,0.3902,"32630A","ZNF83","chr19:53116060","c.*207C>T(exon6)","非编码区","rs1046648",0.61,0.66,0.65,0.67,0.65,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF83",1,4.8,"非编码区",14200,"0.4222=19/45","位于基因组单拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105549"]
["32630A(747)v37926",97,47,0.4845,"32630A","ZNF83","chr19:53117531","c.287G>A(exon6)","p.S96N","rs1056185",0.71,0.72,0.7,0.73,0.71,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF83",1,4.8,"非同义",12220,"0.4953=53/107","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001242531"]
["32630A(747)v37927",55,30,0.5455,"32630A","ZNF83","chr19:53117809","c.9G>T(exon6)","p.G3G","rs10406458",0.71,0.72,0.7,0.73,0.71,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF83",1,4.8,"同义",13203,"0.5333=32/60","位于基因组单拷贝区域+DNA结构正常",55769,"19q13.3","NM_001242531"]
["32630A(747)v37928",39,24,0.6154,"32630A","ZNF83","chr19:53121981","c.-432C>A(exon4)","非编码区","rs187659984",1.8E-3,0,0,0,0.011,0.013,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,8,0,"ZNF83",1,4.8,"非编码区",14100,"0.5909=26/44","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105553"]
["32630A(747)v37929",49,33,0.6735,"32630A","ZNF83","chr19:53122002","c.-453A>G(exon4)","非编码区","rs35068187",0.39,0.12,0.13,0.11,0.15,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF83",1,4.8,"非编码区",14200,"0.6481=35/54","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001105553"]
["32630A(747)v37930",431,194,0.4501,"32630A","ZNF83","chr19:53122226","c.-271T>C(exon5)","非编码区","rs10402824",0.29,0.13,0.15,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF83",1,4.8,"非编码区",14200,"0.4639=244/526","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001242531"]
["32630A(747)v37931",249,131,0.5261,"32630A","ZNF83","chr19:53158924","c.-559G>A(exon3)","非编码区","rs3745105",0.58,0.7,0.7,0.71,0.71,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF83",1,4.8,"非编码区",14200,"0.5000=148/296","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001242531"]
["32630A(747)v37932",22,11,0.5,"32630A","ZNF83","chr19:53164088","c.-649T>C(exon2)","非编码区","rs12972623",0.47,0.56,0.57,0.54,0.56,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF83",1,4.8,"非编码区",14200,"0.5000=11/22","位于基因组多拷贝区域+DNA结构正常",55769,"19q13.3","NM_001242531"]
["32630A(747)v37933",119,53,0.4454,"32630A","ZNF841","chr19:52570714","c.421G>C(exon7)","p.V141L","rs16983412",0.2,0.14,0.13,0.16,0.13,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF841",1,180,"非同义",12220,"0.4603=58/126","位于基因组多拷贝区域+DNA结构正常",284371,"19q13.41","NM_001136499"]
["32630A(747)v37934",121,51,0.4215,"32630A","ZNF841","chr19:52570783","c.352T>C(exon7)","p.L118L","rs16983414",0.2,0.14,0.13,0.16,0.13,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF841",1,180,"同义",13203,"0.4286=57/133","位于基因组多拷贝区域+DNA结构正常",284371,"19q13.41","NM_001136499"]
["32630A(747)v37935",63,29,0.4603,"32630A","ZNF844","chr19:12175667","c.-22G>C(exon1)","非编码区","rs564178735",0.0008,0.0072,0.0095,0.0049,0.0074,0.0065,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF844",1,240,"非编码区",14100,"0.4571=32/70","位于基因组单拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501"]
["32630A(747)v37936",223,113,0.5067,"32630A","ZNF845","chr19:53844513","c.-48C>T(exon2)","非编码区","rs3746311",0.07,0.091,0.12,0.063,0.11,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"非编码区",14200,"0.5111=138/270","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32630A(747)v37937",457,256,0.5602,"32630A","ZNF845","chr19:53848779","c.36T>C(exon3)","p.D12D","rs75887836",0.13,0.13,0.15,0.12,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"同义",13203,"0.5483=312/569","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32630A(747)v37938",526,280,0.5323,"32630A","ZNF845","chr19:53848837","c.94C>T(exon3)","p.L32L","rs56683540",0.13,0.13,0.14,0.12,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"同义",13203,"0.5264=349/663","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32630A(747)v37939",515,273,0.5301,"32630A","ZNF845","chr19:53848845","c.102G>A(exon3)","p.R34R","rs57319493",0.13,0.13,0.14,0.12,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"同义",13203,"0.5207=339/651","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32630A(747)v37940",245,128,0.5224,"32630A","ZNF845","chr19:53854753","c.825T>C(exon4)","p.D275D","rs187114554",0.0002,0.0024,0,0.0049,6.3E-3,0.0037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"ZNF845",1,300,"同义",13103,"0.5216=157/301","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32630A(747)v37941",251,118,0.4701,"32630A","ZNF845","chr19:53856349","c.2421A>T(exon4)","p.E807D","rs55874600",0.2,0.091,0.09,0.092,0.1,0.094,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"非同义",12220,"0.4642=136/293","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32630A(747)v37942",106,46,0.434,"32630A","ZNF84","chr12:133633536","c.239-4A>G(exon5)","非编码区","rs202097614",{"$nulls":4},0.14,null,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"ZNF84",1,280,"非编码区",16302,"0.4463=54/121","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32630A(747)v37943",170,95,0.5588,"32630A","ZNF84","chr12:133633610","c.309A>T(exon5)","p.R103S","rs202216892",{"$nulls":4},0.019,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ZNF84",1,280,"非同义",12320,"0.5495=111/202","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32630A(747)v37944",213,213,1,"32630A","ZNF84","chr12:133634450","c.1149A>C(exon5)","p.A383A","rs623100",{"$nulls":4},1,null,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ZNF84",1,280,"同义",13303,"1.0000=230/230","位于基因组多拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32630A(747)v37945",42,42,1,"32630A","ZNF84","chr12:133635613","c.*95T>C(exon5)","非编码区","rs114972238",{"$nulls":4},1,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ZNF84",1,280,"非编码区",14300,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32630A(747)v37946",104,104,1,"32630A","ZNF852","chr3:44540792-44540793","c.1475(exon4)_c.1476(exon4)delGA","p.E493Kfs*?","rs554288350",1,1,1,1,0.12,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF852",null,null,"移码",2120,"1.0000=118/118","位于基因组多拷贝区域+DNA结构正常",285346,"3p21.31","XM_001717544"]
["32630A(747)v37947",50,50,1,"32630A","ZNF853","chr7:6656830","c.22G>A(exon2)","p.G8R","rs2243563",0.74,0.76,0.76,0.76,0.75,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,60,"非同义",12220,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560"]
["32630A(747)v37948",46,46,1,"32630A","ZNF853","chr7:6656897","c.89A>G(exon2)","p.Q30R","rs1806552",0.77,0.76,0.76,0.77,0.75,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,60,"非同义",12220,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560"]
["32630A(747)v37949",52,30,0.5769,"32630A","ZNF853","chr7:6660790","c.168G>A(exon3)","p.E56E","rs940873",0.41,0.55,0.54,0.55,0.54,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,60,"同义",13203,"0.5593=33/59","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560"]
["32630A(747)v37950",2,2,1,"32630A","ZNF85","chr19:21125710","c.*69T>A(exon4)","非编码区","rs12983551",0.36,0.42,0.47,0.37,0.41,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF85",0.97,190,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",7639,"19p12","NM_001256172"]
["32630A(747)v37951",47,19,0.4043,"32630A","ZNF862","chr7:149543269","c.166C>T(exon3)","p.R56C","rs62621204",0.18,0.22,0.25,0.19,0.27,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"非同义",12220,"0.3846=20/52","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32630A(747)v37952",65,37,0.5692,"32630A","ZNF862","chr7:149556518","c.1125C>T(exon6)","p.A375A","rs4725833",0.53,0.37,0.34,0.4,0.35,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"同义",13203,"0.5128=40/78","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32630A(747)v37953",16,10,0.625,"32630A","ZNF862","chr7:149558409","c.2160G>C(exon7)","p.L720L","rs2240361",0.38,0.33,0.33,0.33,0.33,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"同义",13203,"0.5882=10/17","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32630A(747)v37954",42,26,0.619,"32630A","ZNF862","chr7:149559273","c.3024C>T(exon7)","p.L1008L","rs2074700",0.37,0.33,0.33,0.33,0.32,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"同义",13203,"0.6042=29/48","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32630A(747)v37955",48,28,0.5833,"32630A","ZNF862","chr7:149559465","c.3216C>T(exon7)","p.G1072G","rs2074701",0.44,0.33,0.33,0.33,0.32,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"同义",13203,"0.5472=29/53","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32630A(747)v37956",143,65,0.4545,"32630A","ZNF879","chr5:178459283","c.334A>G(exon5)","p.T112A","rs17078988",0.36,0.46,0.49,0.43,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF879",1,160,"非同义",12220,"0.4379=74/169","位于基因组单拷贝区域+DNA结构正常",345462,"5q35.3","NM_001136116"]
["32630A(747)v37957",155,71,0.4581,"32630A","ZNF879","chr5:178459426","c.477A>C(exon5)","p.E159D","rs17078991",0.36,0.46,0.49,0.43,0.43,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF879",1,160,"非同义",12220,"0.4509=78/173","位于基因组单拷贝区域+DNA结构正常",345462,"5q35.3","NM_001136116"]
["32630A(747)v37958",129,58,0.4496,"32630A","ZNF880","chr19:52887146-52887146","c.313(exon4)delA","p.K105Kfs*6","rs34470614",{"$nulls":4},0.044,0.37,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,9,0,"ZNF880",1,220,"移码",2130,"0.4467=67/150","位于基因组多拷贝区域+简单重复结构",400713,"19q13.41","NM_001145434"]
["32630A(747)v37959",138,55,0.3986,"32630A","ZNF880","chr19:52887246-52887247","c.413(exon4)_c.414(exon4)insCAA","p.I138delinsIN","rs34678014",{"$nulls":4},0.23,0.37,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"ZNF880",1,220,"非移码",2233,"0.4038=63/156","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32630A(747)v37960",116,51,0.4397,"32630A","ZNF880","chr19:52887382","c.549G>A(exon4)","p.P183P","rs74256648",0.014,0.05,0.043,0.058,0.06,0.09,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF880",1,220,"同义",13103,"0.4370=59/135","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32630A(747)v37961",129,66,0.5116,"32630A","ZNF880","chr19:52887427","c.594A>C(exon4)","p.R198S","rs8104808",0.38,0.3,0.33,0.27,0.28,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF880",1,220,"非同义",12220,"0.5232=79/151","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32630A(747)v37962",136,69,0.5074,"32630A","ZNF880","chr19:52887437","c.604A>C(exon4)","p.N202H","rs8104812",0.38,0.3,0.33,0.27,0.28,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF880",1,220,"非同义",12220,"0.5190=82/158","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32630A(747)v37963",152,70,0.4605,"32630A","ZNF880","chr19:52887904","c.1071T>C(exon4)","p.C357C","rs2042913",{"$nulls":4},0.28,0.31,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF880",1,220,"同义",13303,"0.4536=83/183","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32630A(747)v37964",186,109,0.586,"32630A","ZNF880","chr19:52888210","c.1377T>C(exon4)","p.T459T","rs56151179",{"$nulls":4},0.28,0.35,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF880",1,220,"同义",13303,"0.5946=132/222","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32630A(747)v37965",193,110,0.5699,"32630A","ZNF880","chr19:52888245","c.1412A>G(exon4)","p.K471R","rs55748277",0.41,0.31,0.34,0.27,0.28,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF880",1,220,"非同义",12210,"0.5787=136/235","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32630A(747)v37966",92,50,0.5435,"32630A","ZNF880","chr19:52888620","c.*53T>G(exon4)","非编码区","rs3170100",0.42,0.31,0.34,0.27,0.28,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF880",1,220,"非编码区",14200,"0.5472=58/106","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32630A(747)v37967",243,131,0.5391,"32630A","ZNF888","chr19:53410828","c.747A>G(exon3)","p.K249K","rs6509702",0.41,0.26,0.33,0.2,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF888",null,null,"同义",13203,"0.5338=158/296","位于基因组多拷贝区域+DNA结构正常",388559,"19q13.41","XM_496322"]
["32630A(747)v37968",268,152,0.5672,"32630A","ZNF888","chr19:53411166","c.409T>G(exon3)","p.Y137D","rs7255668",0.43,0.26,0.33,0.2,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF888",null,null,"非同义",12230,"0.5378=178/331","位于基因组多拷贝区域+DNA结构正常",388559,"19q13.41","XM_496322"]
["32630A(747)v37969",180,99,0.55,"32630A","ZNF888","chr19:53411347","c.228G>T(exon3)","p.L76L","rs7256037",0.4,0.26,0.33,0.2,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF888",null,null,"同义",13203,"0.5396=109/202","位于基因组多拷贝区域+DNA结构正常",388559,"19q13.41","XM_496322"]
["32630A(747)v37970",155,84,0.5419,"32630A","ZNF888","chr19:53411368","c.207C>T(exon3)","p.H69H","rs7256260",0.4,0.26,0.33,0.2,null,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF888",null,null,"同义",13203,"0.5349=92/172","位于基因组多拷贝区域+DNA结构正常",388559,"19q13.41","XM_496322"]
["32630A(747)v37971",53,53,1,"32630A","ZNF8","chr19:58797583-58797584","c.289+12(exon3)_c.289+13(exon3)insT","非编码区","rs59553565",null,0.49,0.42,0.55,0.51,0.5,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ZNF8",1,97,"非编码区",2500,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",7554,"19q13.43","NM_021089"]
["32630A(747)v37972",109,109,1,"32630A","ZNF8","chr19:58806083","c.909T>C(exon4)","p.H303H","rs260471",0.38,0.48,0.41,0.54,0.48,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF8",1,97,"同义",13203,"1.0000=125/125","位于基因组多拷贝区域+DNA结构正常",7554,"19q13.43","NM_021089"]
["32630A(747)v37973",111,110,0.991,"32630A","ZNF90","chr19:20229486","c.1123G>A(exon4)","p.G375S","rs1725935",0.23,0.5,0.45,0.56,0.59,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF90",1,220,"非同义",12210,"0.9922=127/128","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138"]
["32630A(747)v37974",56,56,1,"32630A","ZNF90","chr19:20230264","c.*95T>A(exon4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF90",1,220,"非编码区",14200,"1.0000=62/62","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138"]
["32630A(747)v37975",5,2,0.4,"32630A","ZNF91","chr19:23541372","c.*833T>A(exon4)","非编码区","rs40561",0.62,0.81,0.8,0.81,0.83,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF91",1,170,"非编码区",14200,"0.4000=2/5","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430"]
["32630A(747)v37976",19,5,0.2632,"32630A","ZNF91","chr19:23541485","c.*720C>T(exon4)","非编码区","rs3745111",0.023,0.017,0.0095,0.024,0.017,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ZNF91",1,170,"非编码区",14100,"0.3000=6/20","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430"]
["32630A(747)v37977",133,70,0.5263,"32630A","ZNF91","chr19:23542697","c.3084C>G(exon4)","p.G1028G","rs1821845",0.43,0.21,0.22,0.2,0.19,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF91",1,170,"同义",13203,"0.5223=82/157","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430"]
["32630A(747)v37978",197,104,0.5279,"32630A","ZNF91","chr19:23545250","c.531T>C(exon4)","p.T177T","rs1044095",0.38,0.19,0.2,0.19,0.17,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF91",1,170,"同义",13203,"0.5242=119/227","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430"]
["32630A(747)v37979",235,116,0.4936,"32630A","ZNF93","chr19:20044041","c.277G>T(exon4)","p.D93Y","rs12151060",0.19,0.46,0.46,0.45,0.38,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF93",1,220,"非同义",12210,"0.5018=141/281","位于基因组多拷贝区域+DNA结构正常",81931,"19p12","NM_031218"]
["32630A(747)v37980",208,102,0.4904,"32630A","ZNF98","chr19:22575488","c.549G>A(exon4)","p.K183K","rs7247735",0.4,0.46,0.49,0.42,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,310,"同义",13203,"0.4877=119/244","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626"]
["32630A(747)v37981",552,243,0.4402,"32630A","ZNF98","chr19:22586192","c.153T>C(exon2)","p.F51F","rs1368476",0.39,0.45,0.48,0.42,0.41,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,310,"同义",13203,"0.4499=323/718","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626"]
["32630A(747)v37982",181,88,0.4862,"32630A","ZNF98","chr19:22605103","c.-77C>G(exon1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,310,"非编码区",14200,"0.4509=101/224","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626"]
["32630A(747)v37983",151,73,0.4834,"32630A","ZNF98","chr19:22605120","c.-94C>A(exon1)","非编码区","rs11669356",0.34,0.44,0.47,0.4,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,310,"非编码区",14200,"0.4444=80/180","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626"]
["32630A(747)v37984",14,7,0.5,"32630A","ZNF99","chr19:22937238","c.*2878A>G(exon4)","非编码区","rs62119143",0.088,0.084,0.071,0.097,0.065,0.061,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.5333=8/15","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37985",30,15,0.5,"32630A","ZNF99","chr19:22937334","c.*2782C>A(exon4)","非编码区","rs62119144",0.09,0.084,0.071,0.097,0.07,0.079,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.5152=17/33","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37986",16,7,0.4375,"32630A","ZNF99","chr19:22937638","c.*2478C>T(exon4)","非编码区","rs55730636",0.09,0.084,0.071,0.097,0.064,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4211=8/19","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37987",3,3,1,"32630A","ZNF99","chr19:22937808","c.*2308C>T(exon4)","非编码区","rs56320137",0.09,0.084,0.071,0.097,0.083,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"1.0000=4/4","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37988",44,17,0.3864,"32630A","ZNF99","chr19:22938363","c.*1753A>C(exon4)","非编码区","rs57897430",0.09,0.084,0.071,0.097,0.074,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4231=22/52","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37989",56,24,0.4286,"32630A","ZNF99","chr19:22938430","c.*1686G>C(exon4)","非编码区","rs61754908",0.09,0.087,0.071,0.1,0.074,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4559=31/68","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37990",144,70,0.4861,"32630A","ZNF99","chr19:22939096","c.*1020A>C(exon4)","非编码区","rs55681804",0.12,0.099,0.076,0.12,0.08,0.089,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4906=78/159","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37991",134,57,0.4254,"32630A","ZNF99","chr19:22939326","c.*790C>T(exon4)","非编码区","rs56115674",0.11,0.096,0.076,0.12,0.08,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4211=64/152","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37992",106,31,0.2925,"32630A","ZNF99","chr19:22939456-22939463","c.*653(exon4)_c.*660(exon4)delTTATGAAA","非编码区","rs755307385",{"$nulls":6},"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,24,0,"ZNF99",1,160,"非编码区",2430,"0.3033=37/122","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37993",111,44,0.3964,"32630A","ZNF99","chr19:22939675","c.*441A>G(exon4)","非编码区","rs62119150",0.09,0.084,0.071,0.097,0.075,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.3953=51/129","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37994",140,67,0.4786,"32630A","ZNF99","chr19:22940046","c.*70G>T(exon4)","非编码区","rs35012661",0.22,0.18,0.16,0.19,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4768=72/151","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37995",81,37,0.4568,"32630A","ZNF99","chr19:22940192-22940193","c.2518(exon4)_c.2519(exon4)insC","p.M840Tfs*166","rs200518184",0.09,0.084,0.071,0.097,0.069,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"移码",2120,"0.4471=38/85","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37996",106,48,0.4528,"32630A","ZNF99","chr19:22940659","c.2052G>A(exon4)","p.K684K","rs59621958",0.22,0.17,0.15,0.19,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"同义",13203,"0.4661=55/118","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37997",114,49,0.4298,"32630A","ZNF99","chr19:22940694","c.2017G>A(exon4)","p.E673K","rs62119157",0.09,0.084,0.071,0.097,0.074,0.08,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非同义",12220,"0.4488=57/127","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37998",101,43,0.4257,"32630A","ZNF99","chr19:22940827","c.1884A>G(exon4)","p.K628K","rs142615427",0.089,0.084,0.071,0.097,0.074,0.079,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"同义",13203,"0.4655=54/116","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v37999",125,57,0.456,"32630A","ZNF99","chr19:22940899","c.1812C>T(exon4)","p.H604H","rs59017672",0.37,0.36,0.29,0.44,0.34,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"同义",13203,"0.4966=72/145","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38000",119,65,0.5462,"32630A","ZNF99","chr19:22941071","c.1640A>G(exon4)","p.N547S","rs144632185",0.09,0.084,0.071,0.097,0.074,0.082,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非同义",12220,"0.5255=72/137","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38001",134,65,0.4851,"32630A","ZNF99","chr19:22941591","c.1120T>A(exon4)","p.C374S","rs62119159",0.089,0.084,0.071,0.097,0.074,0.081,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非同义",12210,"0.4839=75/155","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38002",128,62,0.4844,"32630A","ZNF99","chr19:22941617","c.1094A>G(exon4)","p.E365G","rs58653025",0.22,0.17,0.15,0.19,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非同义",12220,"0.4901=74/151","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38003",64,34,0.5312,"32630A","ZNF99","chr19:22942061","c.650T>G(exon4)","p.I217S","rs61753878",0.09,0.084,0.071,0.097,0.075,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非同义",12220,"0.5135=38/74","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38004",203,91,0.4483,"32630A","ZNF99","chr19:22942325","c.386C>G(exon4)","p.A129G","rs7255780",0.37,0.36,0.29,0.44,0.34,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非同义",12220,"0.4693=107/228","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38005",202,93,0.4604,"32630A","ZNF99","chr19:22942335","c.376C>T(exon4)","p.H126Y","rs61740110",0.085,0.084,0.071,0.097,0.074,0.081,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非同义",12210,"0.4800=108/225","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38006",260,119,0.4577,"32630A","ZNF99","chr19:22952111","c.19T>C(exon2)","p.W7R","rs34726149",0.22,0.18,0.15,0.2,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非同义",12220,"0.4513=139/308","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38007",128,57,0.4453,"32630A","ZNF99","chr19:22966902","c.-84G>T(exon1)","非编码区","rs7248586",0.089,0.084,0.071,0.097,0.075,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4375=70/160","位于基因组多拷贝区域+DNA结构正常",7652,"19p12","NM_001080409"]
["32630A(747)v38008",76,76,1,"32630A","ZNFX1","chr20:47865372","c.4189C>T(exon14)","p.L1397L","rs238208",0.78,0.56,0.57,0.55,0.58,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,92,"同义",13203,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32630A(747)v38009",99,39,0.3939,"32630A","ZNFX1","chr20:47865509","c.4052C>T(exon14)","p.T1351I","rs238209",0.6,0.47,0.47,0.48,0.5,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,92,"非同义",12220,"0.3853=42/109","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32630A(747)v38010",110,53,0.4818,"32630A","ZNFX1","chr20:47872327","c.2804+18T>C(exon9)","非编码区","rs238220",0.61,0.47,0.47,0.48,null,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,92,"非编码区",16203,"0.4766=61/128","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32630A(747)v38011",105,54,0.5143,"32630A","ZNFX1","chr20:47872377","c.2772G>C(exon9)","p.Q924H","rs238221",0.57,0.43,0.43,0.43,0.45,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,92,"非同义",12220,"0.5122=63/123","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32630A(747)v38012",75,75,1,"32630A","ZNFX1","chr20:47886684","c.1665C>T(exon3)","p.Y555Y","rs57950",0.78,0.56,0.57,0.55,0.58,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,92,"同义",13203,"1.0000=89/89","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32630A(747)v38013",153,70,0.4575,"32630A","ZNHIT1","chr7:100861452","c.-25T>C(exon1)","非编码区","rs11769624",0.24,0.17,0.15,0.19,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNHIT1",1,71,"非编码区",14200,"0.4393=76/173","位于基因组单拷贝区域+DNA结构正常",10467,"7q22.1","NM_006349"]
["32630A(747)v38014",54,54,1,"32630A","ZNHIT2","chr11:64884052","c.1074C>T(exon1)","p.A358A","rs1546532",0.89,0.9,0.91,0.9,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNHIT2",1,24,"同义",13203,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",741,"11q13","NM_014205"]
["32630A(747)v38015",61,37,0.6066,"32630A","ZNHIT3","chr17:34842521","c.-23A>G(exon1)","非编码区","rs4796224",0.51,0.46,0.49,0.44,0.52,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNHIT3",1,110,"非编码区",14200,"0.5882=40/68","位于基因组单拷贝区域+DNA结构正常",9326,"17q12","NM_004773"]
["32630A(747)v38016",154,84,0.5455,"32630A","ZNHIT6","chr1:86167957","c.916-14G>A(exon5)","非编码区","rs1764298",0.71,0.94,0.93,0.94,0.93,0.94,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNHIT6",1,180,"非编码区",16202,"0.5419=97/179","位于基因组单拷贝区域+DNA结构正常",54680,"1p22.3","NM_017953"]
["32630A(747)v38017",67,29,0.4328,"32630A","ZNHIT6","chr1:86173298","c.656+14G>A(exon1)","非编码区","rs1539444",0.44,0.46,0.47,0.45,0.49,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNHIT6",1,180,"非编码区",16203,"0.4384=32/73","位于基因组单拷贝区域+DNA结构正常",54680,"1p22.3","NM_017953"]
["32630A(747)v38018",3,3,1,"32630A","ZNRF1","chr16:75144297","c.*2699A>G(exon5)","非编码区","rs1043503",0.7,0.77,0.77,0.78,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNRF1",1,44,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",84937,"16q23.1","NM_032268"]
["32630A(747)v38019",25,25,1,"32630A","ZNRF3","chr22:29446611","c.2442A>C(exon8)","p.P814P","rs5997435",0.52,0.54,0.51,0.56,0.53,0.55,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNRF3",0.96,47,"同义",13203,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",84133,"22q12.1","NM_001206998"]
["32630A(747)v38020",60,24,0.4,"32630A","ZNRF4","chr19:5455611","c.109C>T(exon1)","p.P37S","rs2240743",0.53,0.76,0.76,0.76,0.77,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,47,"非同义",12220,"0.4000=26/65","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32630A(747)v38021",33,15,0.4545,"32630A","ZNRF4","chr19:5455796","c.294A>G(exon1)","p.A98A","rs420325",0.73,0.87,0.85,0.88,0.87,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,47,"同义",13203,"0.4390=18/41","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32630A(747)v38022",29,8,0.2759,"32630A","ZNRF4","chr19:5455971","c.469G>T(exon1)","p.A157S","rs8103406",0.54,0.76,0.75,0.77,0.78,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,47,"非同义",12220,"0.2759=8/29","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32630A(747)v38023",30,9,0.3,"32630A","ZNRF4","chr19:5455978","c.476T>C(exon1)","p.V159A","rs8107825",0.54,0.76,0.75,0.77,0.79,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,47,"非同义",12220,"0.3226=10/31","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32630A(747)v38024",25,7,0.28,"32630A","ZNRF4","chr19:5455990","c.488G>A(exon1)","p.R163H","rs17304380",0.19,0.4,0.37,0.42,0.44,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,47,"非同义",12210,"0.3077=8/26","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32630A(747)v38025",57,25,0.4386,"32630A","ZNRF4","chr19:5456450","c.948T>C(exon1)","p.Y316Y","rs8111108",0.7,0.87,0.84,0.89,0.87,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,47,"同义",13203,"0.4545=30/66","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32630A(747)v38026",62,62,1,"32630A","ZP1","chr11:60635091","c.57T>C(exon1)","p.V19V","rs550479",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,1,4,1,"ZP1",1,75,"同义",13203,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341"]
["32630A(747)v38027",89,45,0.5056,"32630A","ZP1","chr11:60637164","c.473C>T(exon3)","p.T158I","rs489172",0.69,0.37,0.35,0.38,0.42,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,3,4,1,"ZP1",1,75,"非同义",12210,"0.5146=53/103","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341"]
["32630A(747)v38028",77,41,0.5325,"32630A","ZP1","chr11:60638461","c.858C>T(exon5)","p.F286F","rs10897122",0.31,0.66,0.69,0.64,0.6,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,3,4,1,"ZP1",1,75,"同义",13203,"0.5244=43/82","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341"]
["32630A(747)v38029",80,80,1,"32630A","ZP1","chr11:60638470","c.867A>G(exon5)","p.V289V","rs566411",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,1,4,1,"ZP1",1,75,"同义",13203,"1.0000=86/86","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341"]
["32630A(747)v38030",139,54,0.3885,"32630A","ZP2","chr16:21215672","c.747T>C(exon8)","p.P249P","rs2075526",0.32,0.41,0.43,0.39,0.42,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19855393,{"$nulls":3},5,null,3,0,"ZP2",1,150,"同义",13203,"0.3727=60/161","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460"]
["32630A(747)v38031",205,99,0.4829,"32630A","ZP2","chr16:21217061","c.519C>T(exon6)","p.D173D","rs16971234",0.28,0.42,0.44,0.39,0.39,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZP2",1,150,"同义",13203,"0.4699=117/249","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460"]
["32630A(747)v38032",147,81,0.551,"32630A","ZP2","chr16:21222672","c.107G>T(exon2)","p.G36V","rs2075520",0.45,0.46,0.5,0.42,0.42,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17357082,{"$nulls":3},5,null,3,0,"ZP2",1,150,"非同义",12220,"0.5893=99/168","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460"]
["32630A(747)v38033",41,23,0.561,"32630A","ZP3","chr7:76062770","c.383-17C>A(exon5)","非编码区","rs3762031",0.11,0.12,0.11,0.14,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZP3",1,130,"非编码区",16202,"0.5870=27/46","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_007155"]
["32630A(747)v38034",95,46,0.4842,"32630A","ZP3","chr7:76069811","c.790T>C(exon8)","p.S264P","rs2906999",0.59,0.57,0.54,0.61,0.62,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZP3",1,130,"非同义",12220,"0.4643=52/112","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_007155"]
["32630A(747)v38035",101,53,0.5248,"32630A","ZP4","chr1:238051700-238051702","c.509(exon4)_c.511(exon4)delGTT","p.C170_Y171delinsY","rs779614581",{"$nulls":5},0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"ZP4",1,160,"非移码",2233,"0.4958=59/119","位于基因组单拷贝区域+DNA结构正常",57829,"1q43","NM_021186"]
["32630A(747)v38036",87,37,0.4253,"32630A","ZPBP2","chr17:38024839","c.90C>T(exon2)","p.G30G","rs75027016",0.033,0.099,0.09,0.11,0.12,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZPBP2",1,220,"同义",13103,"0.4444=44/99","位于基因组单拷贝区域+DNA结构正常",124626,"17q12","NM_199321"]
["32630A(747)v38037",95,95,1,"32630A","ZPBP","chr7:50023122","c.784-7G>A(exon7)","非编码区","rs988392",0.78,0.88,0.88,0.89,0.91,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZPBP",1,210,"非编码区",16202,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",11055,"7p14.3","NM_007009"]
["32630A(747)v38038",61,61,1,"32630A","ZPBP","chr7:50070921","c.488-15G>C(exon5)","非编码区","rs1351691",0.76,0.87,0.86,0.89,0.9,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZPBP",1,210,"非编码区",16202,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",11055,"7p14.3","NM_007009"]
["32630A(747)v38039",96,96,1,"32630A","ZRANB2","chr1:71537943","c.379-5T>C(exon6)","非编码区","rs11209745",0.36,0.75,0.72,0.79,0.71,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZRANB2",1,240,"非编码区",16202,"1.0000=108/108","位于基因组单拷贝区域+DNA结构正常",9406,"1p31","NM_005455"]
["32630A(747)v38040",37,16,0.4324,"32630A","ZRANB3","chr2:135965376","c.2637A>G(exon19)","p.P879P","rs7578111",0.27,0.19,0.22,0.17,0.2,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"同义",13203,"0.4773=21/44","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32630A(747)v38041",56,29,0.5179,"32630A","ZRANB3","chr2:135988127","c.1910A>T(exon13)","p.E637V","rs59900519",0.28,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非同义",12220,"0.5507=38/69","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32630A(747)v38042",63,29,0.4603,"32630A","ZRANB3","chr2:135988186","c.1851C>T(exon13)","p.T617T","rs58917764",0.19,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"同义",13203,"0.4737=36/76","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32630A(747)v38043",71,39,0.5493,"32630A","ZRANB3","chr2:135988235","c.1802G>A(exon13)","p.R601Q","rs76333606",0.077,0.079,0.081,0.078,0.082,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非同义",12220,"0.5375=43/80","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32630A(747)v38044",59,29,0.4915,"32630A","ZRANB3","chr2:135988416","c.1621G>A(exon13)","p.E541K","rs935615",0.27,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非同义",12220,"0.4638=32/69","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32630A(747)v38045",148,69,0.4662,"32630A","ZRANB3","chr2:136148401","c.162-11T>A(exon3)","非编码区","rs2043757",0.27,0.18,0.2,0.16,0.19,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非编码区",16202,"0.4353=74/170","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32630A(747)v38046",148,67,0.4527,"32630A","ZRANB3","chr2:136148402","c.162-12T>A(exon3)","非编码区","rs2043758",0.21,0.12,0.15,0.1,0.14,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非编码区",16202,"0.4235=72/170","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32630A(747)v38047",138,138,1,"32630A","ZRSR2","chrX:15838366","c.864C>T(exon10)","p.N288N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,120,"同义",13303,"1.0000=174/174","位于基因组单拷贝区域+DNA结构正常",8233,"Xp22.1","NM_005089"]
["32630A(747)v38048",24,14,0.5833,"32630A","ZSCAN12","chr6:28358116-28358117","c.*114(exon4)_c.*115(exon4)insT","非编码区","rs150686870",0.1,0.12,0.1,0.13,0.082,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"非编码区",2420,"0.5667=17/30","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391"]
["32630A(747)v38049",133,58,0.4361,"32630A","ZSCAN12","chr6:28358320","c.1747T>C(exon4)","p.C583R","rs1361385",0.39,0.25,0.2,0.3,0.28,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"非同义",12210,"0.4268=70/164","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391"]
["32630A(747)v38050",141,61,0.4326,"32630A","ZSCAN12","chr6:28358335","c.1732C>G(exon4)","p.R578G","rs1416918",0.39,0.25,0.2,0.3,0.28,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"非同义",12220,"0.4320=73/169","位于基因组单拷贝区域+DNA结构正常",9753,"6p21","NM_001163391"]
["32630A(747)v38051",73,44,0.6027,"32630A","ZSCAN12","chr6:28358893","c.1174A>G(exon4)","p.N392D","rs2232434",0.1,0.12,0.1,0.13,0.11,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"非同义",12220,"0.6310=53/84","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391"]
["32630A(747)v38052",90,48,0.5333,"32630A","ZSCAN12","chr6:28359170","c.897T>C(exon4)","p.D299D","rs2859348",0.64,0.58,0.58,0.59,0.58,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"同义",13203,"0.5333=56/105","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391"]
["32630A(747)v38053",37,18,0.4865,"32630A","ZSCAN18","chr19:58598670","c.642+13G>A(exon4)","非编码区","rs2287837",0.27,0.35,0.34,0.37,0.35,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN18",1,42,"非编码区",16203,"0.5476=23/42","位于基因组单拷贝区域+DNA结构正常",65982,"19q13.43","NM_023926"]
["32630A(747)v38054",31,18,0.5806,"32630A","ZSCAN18","chr19:58598784","c.554-13T>C(exon4)","非编码区","rs2260914",0.75,0.6,0.57,0.63,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN18",1,42,"非编码区",16202,"0.6176=21/34","位于基因组单拷贝区域+DNA结构正常",65982,"19q13.43","NM_023926"]
["32630A(747)v38055",39,22,0.5641,"32630A","ZSCAN18","chr19:58600048","c.553+7G>A(exon3)","非编码区","rs1529329",0.27,0.36,0.34,0.37,0.34,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN18",1,42,"非编码区",16203,"0.5714=24/42","位于基因组单拷贝区域+DNA结构正常",65982,"19q13.43","NM_023926"]
["32630A(747)v38056",36,21,0.5833,"32630A","ZSCAN1","chr19:58549366","c.162C>G(exon3)","p.L54L","rs159870",0.64,0.47,0.41,0.54,0.46,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN1",1,58,"同义",13203,"0.5500=22/40","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572"]
["32630A(747)v38057",6,3,0.5,"32630A","ZSCAN1","chr19:58549593","c.370+19C>G(exon3)","非编码区","rs2241406",0.78,0.48,0.42,0.54,0.47,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN1",1,58,"非编码区",16203,"0.5000=3/6","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572"]
["32630A(747)v38058",23,14,0.6087,"32630A","ZSCAN1","chr19:58565431","c.*12C>T(exon6)","非编码区","rs8104122",0.26,0.29,0.27,0.32,0.26,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN1",1,58,"非编码区",14200,"0.5833=14/24","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572"]
["32630A(747)v38059",113,55,0.4867,"32630A","ZSCAN20","chr1:33957130","c.1272C>A(exon6)","p.A424A","rs3795419",0.19,0.38,0.37,0.39,0.37,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,130,"同义",13203,"0.4729=61/129","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238"]
["32630A(747)v38060",109,109,1,"32630A","ZSCAN20","chr1:33957152","c.1294T>G(exon6)","p.Y432D","rs4403594",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,130,"非同义",12230,"1.0000=124/124","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238"]
["32630A(747)v38061",190,190,1,"32630A","ZSCAN20","chr1:33960062","c.2118A>G(exon8)","p.A706A","rs9943259",0.75,0.75,0.76,0.75,0.75,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,130,"同义",13203,"1.0000=220/220","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238"]
["32630A(747)v38062",36,36,1,"32630A","ZSCAN20","chr1:33961147","c.*71T>G(exon8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,0.75,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,130,"非编码区",14200,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238"]
["32630A(747)v38063",133,49,0.3684,"32630A","ZSCAN21","chr7:99662512-99662515","c.*272(exon4)_c.*275(exon4)delTAGT","非编码区","rs71689664",null,0.38,0.35,0.41,0.067,0.39,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZSCAN21",1,120,"非编码区",2430,"0.3618=55/152","位于基因组单拷贝区域+DNA结构正常",7589,"7q22.1","NM_145914"]
["32630A(747)v38064",8,4,0.5,"32630A","ZSCAN23","chr6:28401790","c.*452T>C(exon4)","非编码区","rs16894108",0.38,0.25,0.2,0.3,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN23",1,110,"非编码区",14200,"0.4444=4/9","位于基因组单拷贝区域+DNA结构正常",222696,"6p22.1","NM_001012455"]
["32630A(747)v38065",96,44,0.4583,"32630A","ZSCAN23","chr6:28402260","c.1152A>G(exon4)","p.P384P","rs17315648",0.11,0.12,0.1,0.14,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN23",1,110,"同义",13203,"0.4952=52/105","位于基因组单拷贝区域+DNA结构正常",222696,"6p22.1","NM_001012455"]
["32630A(747)v38066",90,34,0.3778,"32630A","ZSCAN23","chr6:28403225","c.556+12G>A(exon3)","非编码区","rs2071965",0.38,0.25,0.2,0.3,0.29,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN23",1,110,"非编码区",16203,"0.4257=43/101","位于基因组单拷贝区域+DNA结构正常",222696,"6p22.1","NM_001012455"]
["32630A(747)v38067",69,37,0.5362,"32630A","ZSCAN23","chr6:28403629","c.408+7A>G(exon2)","非编码区","rs57126418",0.11,0.12,0.1,0.14,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN23",1,110,"非编码区",16203,"0.5190=41/79","位于基因组单拷贝区域+DNA结构正常",222696,"6p22.1","NM_001012455"]
["32630A(747)v38068",83,52,0.6265,"32630A","ZSCAN29","chr15:43661802","c.310A>G(exon1)","p.R104G","rs3809482",0.55,0.5,0.48,0.53,0.48,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSCAN29",1,85,"非同义",12220,"0.6277=59/94","位于基因组单拷贝区域+DNA结构正常",146050,"15q15.3","NM_152455"]
["32630A(747)v38069",83,83,1,"32630A","ZSCAN2","chr15:85149771","c.418G>T(exon3)","p.V140F","rs2271433",0.91,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN2",1,120,"非同义",12220,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_017894"]
["32630A(747)v38070",108,108,1,"32630A","ZSCAN2","chr15:85163998","c.572G>C(exon3)","p.S191T","rs2044502",0.88,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN2",1,120,"非同义",12220,"1.0000=120/120","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_181877"]
["32630A(747)v38071",127,61,0.4803,"32630A","ZSCAN5B","chr19:56702323","c.622G>A(exon3)","p.V208I","rs4801296",0.48,0.41,0.45,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSCAN5B",1,110,"非同义",12220,"0.4741=64/135","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456"]
["32630A(747)v38072",34,19,0.5588,"32630A","ZSCAN5D","chr19:56755770","c.359G>A(exon1)","p.R120Q","rs4801693",0.48,0.5,0.51,0.48,null,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN5D",null,null,"非同义",12210,"0.5833=21/36","位于基因组多拷贝区域+DNA结构正常",646698,"19q13.43","XM_001725568"]
["32630A(747)v38073",31,14,0.4516,"32630A","ZSCAN5D","chr19:56755815","c.384+20C>T(exon1)","非编码区","rs28641657",{"$nulls":5},0.0032,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"ZSCAN5D",null,null,"非编码区",16303,"0.4706=16/34","位于基因组多拷贝区域+DNA结构正常",646698,"19q13.43","XM_001725568"]
["32630A(747)v38074",50,48,0.96,"32630A","ZSCAN5D","chr19:56758220","c.857G>A(exon4)","p.S286N","rs3972669",0.91,0.83,0.85,0.82,null,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN5D",null,null,"非同义",12220,"0.9333=56/60","位于基因组多拷贝区域+DNA结构正常",646698,"19q13.43","XM_001725568"]
["32630A(747)v38075",5,3,0.6,"32630A","ZSWIM1","chr20:44512793-44512794","c.*104(exon2)_c.*105(exon2)delTG","非编码区","rs11469050",null,0.43,0.42,0.44,0,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZSWIM1",1,55,"非编码区",2430,"0.6000=3/5","位于基因组单拷贝区域+DNA结构正常",90204,"20q13.12","NM_080603"]
["32630A(747)v38076",31,12,0.3871,"32630A","ZSWIM3","chr20:44505973","c.776T>C(exon2)","p.V259A","rs2903808",0.56,0.55,0.55,0.56,0.51,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSWIM3",1,57,"非同义",12220,"0.3939=13/33","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752"]
["32630A(747)v38077",39,16,0.4103,"32630A","ZSWIM3","chr20:44506418","c.1221G>A(exon2)","p.R407R","rs1045493",0.48,0.46,0.46,0.47,0.47,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSWIM3",1,57,"同义",13203,"0.4048=17/42","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752"]
["32630A(747)v38078",124,123,0.9919,"32630A","ZSWIM5","chr1:45504720","c.1782C>G(exon8)","p.T594T","rs7551698",0.51,0.51,0.46,0.55,0.48,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSWIM5",1,78,"同义",13203,"0.9935=153/154","位于基因组单拷贝区域+DNA结构正常",57643,"1p34.1","NM_020883"]
["32630A(747)v38079",26,12,0.4615,"32630A","ZW10","chr11:113604245-113604248","c.*168(exon16)_c.*171(exon16)delGTTT","非编码区","rs141123769",0.078,0.14,0.15,0.14,0,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZW10",1,150,"非编码区",2420,"0.4828=14/29","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724"]
["32630A(747)v38080",141,70,0.4965,"32630A","ZW10","chr11:113609079","c.1791A>G(exon13)","p.K597K","rs77970040",1.8E-3,0.017,0.0048,0.029,0.0057,0.0088,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZW10",1,150,"同义",13103,"0.4933=74/150","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724"]
["32630A(747)v38081",136,136,1,"32630A","ZW10","chr11:113618968","c.1089+11C>G(exon8)","非编码区","rs2513584",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZW10",1,150,"非编码区",16203,"1.0000=158/158","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724"]
["32630A(747)v38082",167,167,1,"32630A","ZWILCH","chr15:66806308","c.106-18C>T(exon3)","非编码区","rs4238406",1,0.99,1,0.99,0.99,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZWILCH",1,190,"非编码区",16202,"1.0000=199/199","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975"]
["32630A(747)v38083",75,41,0.5467,"32630A","ZWILCH","chr15:66821174","c.970-16G>C(exon11)","非编码区","rs6494580",0.93,0.94,0.96,0.92,0.93,0.93,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZWILCH",1,190,"非编码区",16202,"0.5682=50/88","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975"]
["32630A(747)v38084",56,56,1,"32630A","ZWINT","chr10:58118630","c.559A>G(exon6)","p.R187G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,1,0,"ZWINT",1,85,"非同义",12210,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",11130,"10q21-q22","NM_032997"]
["32630A(747)v38085",60,60,1,"32630A","ZXDB","chrX:57619648","c.1167G>T(exon1)","p.P389P","rs1057328",null,1,1,1,1,1,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZXDB",1,59,"同义",13303,"1.0000=71/71","位于基因组多拷贝区域+DNA结构正常",158586,"Xp11.21","NM_007157"]
["32630A(747)v38086",35,35,1,"32630A","ZXDC","chr3:126181071","c.1442-8T>G(exon6)","非编码区","rs6775965",0.22,0.34,0.34,0.33,0.42,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZXDC",0.94,65,"非编码区",16202,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_001040653"]
["32630A(747)v38087",5,5,1,"32630A","ZXDC","chr3:126194357","c.352C>G(exon1)","p.P118A","rs7624748",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZXDC",0.94,65,"非同义",12220,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_001040653"]
["32630A(747)v38088",17,10,0.5882,"32630A","ZYG11A","chr1:53308455","c.-101C>G(exon1)","非编码区","rs117974148",0.039,0.2,0.19,0.21,0.22,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZYG11A",1,120,"非编码区",14100,"0.5789=11/19","位于基因组单拷贝区域+DNA结构正常",440590,"1p32.3","NM_001004339"]
["32630A(747)v38089",126,65,0.5159,"32630A","ZYG11A","chr1:53320274","c.228G>T(exon2)","p.E76D","rs480299",0.59,0.25,0.23,0.28,0.3,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZYG11A",1,120,"非同义",12220,"0.5217=72/138","位于基因组单拷贝区域+DNA结构正常",440590,"1p32.3","NM_001004339"]
["32630A(747)v38090",160,85,0.5312,"32630A","ZYG11A","chr1:53333392","c.1492-7C>T(exon8)","非编码区","rs79762797",0.052,0.2,0.19,0.21,0.22,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZYG11A",1,120,"非编码区",16202,"0.5215=97/186","位于基因组单拷贝区域+DNA结构正常",440590,"1p32.3","NM_001004339"]
["32630A(747)v38091",2,2,1,"32630A","ZYG11B","chr1:53192144-53192145","c.-182(exon1)_c.-181(exon1)insGGCTGC","非编码区",{"$nulls":7},"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZYG11B",1,140,"非编码区",2440,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646"]
["32630A(747)v38092",4,4,1,"32630A","ZYG11B","chr1:53192187","c.-139C>T(exon1)","非编码区","rs269298",0.85,0.62,0.59,0.66,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZYG11B",1,140,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646"]
["32630A(747)v38093",80,80,1,"32630A","ZYG11B","chr1:53250650","c.1194G>A(exon5)","p.G398G","rs6588443",0.71,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZYG11B",1,140,"同义",13203,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646"]
["32630A(747)v38094",76,31,0.4079,"32630A","ZYX","chr7:143087744","c.1688G>A(exon10)","p.R563Q","rs149835123",0.0004,0.0024,0,0.0049,0.0022,0.0095,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"ZYX",1,58,"非同义",12120,"0.4337=36/83","位于基因组单拷贝区域+DNA结构正常",7791,"7q32","NM_003461"]
["32630A(747)v38095",57,57,1,"32630A","ZZEF1","chr17:3989968","c.2343-19G>A(exon15)","非编码区","rs2727060",0.53,0.78,0.81,0.74,0.74,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZZEF1",1,110,"非编码区",16202,"1.0000=68/68","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113"]
["32630A(747)v38096",10,10,1,"32630A","ZZEF1","chr17:4046101","c.89T>C(exon1)","p.V30A","rs1454121",0.8,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZZEF1",1,110,"非同义",12220,"1.0000=11/11","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113"]

{"sheet":"Result","index":1,"n_rows":42013,"n_cols":47,"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(32630xbycn1A_747)","突变深度A(32630xbycn1A_747)","突变率A(32630xbycn1A_747)","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(32630xbycn1A_747)","原深度B(NA_NA)","基因ID","基因Location","mRNA变体名称(NM)","HGMD数据库注释","Clinvar数据库注释","OMIM数据库注释","SWISS数据库注释","突变区域","疑似阳性/非阳性"]
["32630A(747)v1",25,25,1,{"$nulls":3},"A有","32630A","A1BG","chr19:58858232-58858232","c.*156(exon8)delG","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"A1BG",1,39,"非编码区",2420,"1.0000=25/25",null,1,"19q13.4","NM_130786",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2",59,59,1,{"$nulls":3},"A有","32630A","A1BG","chr19:58864479","c.155A>G(exon3)","p.H52R","rs893184",0.85,0.92,0.94,0.89,0.91,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23690342,{"$nulls":3},5,null,3,0,"A1BG",1,39,"非同义",12220,"1.0000=62/62",null,1,"19q13.4","NM_130786",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v3",65,30,0.46,{"$nulls":3},"A有","32630A","A1BG","chr19:58864497","c.137C>T(exon3)","p.T46M","rs201279119",0.0002,0,0,0,0.00054,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,3,0,"A1BG",1,39,"非同义",12110,"0.4493=31/69",null,1,"19q13.4","NM_130786",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13",132,47,0.36,{"$nulls":3},"A有","32630A","A2M","chr12:9232268","c.2998A>G(exon24)","p.I1000V","rs669",null,0.089,0.081,0.097,0.076,0.093,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","9811940;18191876;21122033;23186781;23238918","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,5,2,"A2M",1,190,"非同义",12320,"0.3709=56/151",null,2,"12p13.31","NM_000014","rs669|\"Alzheimer_disease_association_with\"|9811940","ILE1000VAL|Benign;risk factor|NA|OMIM:103950.0001|no assertion criteria provided|PubMed:9811940",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13",132,47,0.36,{"$nulls":3},"A有","32630A","A2M","chr12:9232268","c.2998A>G(exon24)","p.I1000V","rs669",null,0.089,0.081,0.097,0.076,0.093,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","9811940;18191876;21122033;23186781;23238918","α2-巨球蛋白缺乏症","AD",614036,3,1,5,2,"A2M",1,190,"非同义",12320,"0.3709=56/151",null,2,"12p13.31","NM_000014","rs669|\"Alzheimer_disease_association_with\"|9811940","ILE1000VAL|Benign;risk factor|NA|OMIM:103950.0001|no assertion criteria provided|PubMed:9811940",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14",103,103,1,{"$nulls":3},"A有","32630A","A2M","chr12:9248233","c.1915A>G(exon16)","p.N639D","rs226405",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,5,2,"A2M",1,190,"非同义",12330,"1.0000=112/112",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14",103,103,1,{"$nulls":3},"A有","32630A","A2M","chr12:9248233","c.1915A>G(exon16)","p.N639D","rs226405",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,5,2,"A2M",1,190,"非同义",12330,"1.0000=112/112",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v15",180,101,0.56,{"$nulls":3},"A有","32630A","A2M","chr12:9258821","c.1104+11T>C(exon10)","非编码区","rs12427063",null,0.36,0.35,0.37,0.36,0.35,"杂合","未知","内含子突变可能影响调控",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,4,1,5,2,"A2M",1,190,"非编码区",16303,"0.5640=119/211",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v15",180,101,0.56,{"$nulls":3},"A有","32630A","A2M","chr12:9258821","c.1104+11T>C(exon10)","非编码区","rs12427063",null,0.36,0.35,0.37,0.36,0.35,"杂合","未知","内含子突变可能影响调控",null,"α2-巨球蛋白缺乏症","AD",614036,4,1,5,2,"A2M",1,190,"非编码区",16303,"0.5640=119/211",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v16",115,54,0.47,{"$nulls":3},"A有","32630A","A2M","chr12:9268473","c.-28T>G(exon1)","非编码区","rs226380",null,0.12,0.11,0.13,0.12,0.13,"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",104300,3,1,5,2,"A2M",1,190,"非编码区",14300,"0.4779=65/136",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v16",115,54,0.47,{"$nulls":3},"A有","32630A","A2M","chr12:9268473","c.-28T>G(exon1)","非编码区","rs226380",null,0.12,0.11,0.13,0.12,0.13,"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",614036,3,1,5,2,"A2M",1,190,"非编码区",14300,"0.4779=65/136",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17",67,31,0.46,{"$nulls":3},"A有","32630A","A2M","chr12:9268549","c.-104G>A(exon1)","非编码区","rs16918022",null,0.012,0.019,0.0049,0.0095,null,"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",104300,3,1,5,2,"A2M",1,190,"非编码区",14300,"0.4430=35/79",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17",67,31,0.46,{"$nulls":3},"A有","32630A","A2M","chr12:9268549","c.-104G>A(exon1)","非编码区","rs16918022",null,0.012,0.019,0.0049,0.0095,null,"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",614036,3,1,5,2,"A2M",1,190,"非编码区",14300,"0.4430=35/79",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v4",156,70,0.45,{"$nulls":3},"A有","32630A","A2ML1","chr12:8975901","c.186C>T(exon2)","p.T62T","rs17792974",null,0.21,0.23,0.19,0.22,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"同义",13303,"0.4396=80/182",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5",82,42,0.51,{"$nulls":3},"A有","32630A","A2ML1","chr12:8995966","c.1476+9G>A(exon12)","非编码区","rs7136813",null,0.1,0.081,0.12,0.12,0.12,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"非编码区",16303,"0.4848=48/99",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6",97,97,1,{"$nulls":3},"A有","32630A","A2ML1","chr12:9004512","c.2367G>A(exon19)","p.P789P","rs1860927",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"同义",13303,"1.0000=112/112",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7",95,95,1,{"$nulls":3},"A有","32630A","A2ML1","chr12:9004892","c.2550C>A(exon20)","p.D850E","rs1860926",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"A2ML1",1,130,"非同义",12330,"1.0000=101/101",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v8",36,20,0.56,{"$nulls":3},"A有","32630A","A2ML1","chr12:9010671","c.3237G>A(exon26)","p.V1079V","rs11612600",null,0.14,0.13,0.14,0.18,0.17,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"同义",13303,"0.5714=24/42",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9",212,96,0.45,{"$nulls":3},"A有","32630A","A2ML1","chr12:9013755","c.3364C>T(exon28)","p.R1122W","rs1860967",null,0.83,0.83,0.83,0.79,0.78,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"A2ML1",1,130,"非同义",12320,"0.4661=117/251",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v10",51,51,1,{"$nulls":3},"A有","32630A","A2ML1","chr12:9016573","c.3686A>G(exon29)","p.H1229R","rs10219561",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"A2ML1",1,130,"非同义",12330,"1.0000=55/55",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11",73,73,1,{"$nulls":3},"A有","32630A","A2ML1","chr12:9020489","c.3769A>G(exon30)","p.M1257V","rs7308811",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"A2ML1",1,130,"非同义",12320,"1.0000=83/83",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12",80,35,0.44,{"$nulls":3},"A有","32630A","A2ML1","chr12:9020912","c.4020A>G(exon31)","p.Q1340Q","rs1476910",null,0.48,0.48,0.48,0.47,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"A2ML1",1,130,"同义",13303,"0.4421=42/95",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18",34,12,0.35,{"$nulls":3},"A有","32630A","A4GALT","chr22:43089858","c.100G>A(exon3)","p.V34I","rs186054814",0.0062,0.036,0.033,0.039,0.038,0.044,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",23225054,"血型, P 系统",null,111400,3,2,1,1,"A4GALT",1,41,"非同义",12120,"0.3784=14/37",null,53947,"22q13.2","NM_017436","VAL34ILE|\"Pk_synthase_deficiency_(p_phenotype)\"|23225054",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19",25,25,1,{"$nulls":3},"A有","32630A","A4GNT","chr3:137843018","c.*88C>G(exon3)","非编码区","rs1564496",null,0.69,0.68,0.71,0.7,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A4GNT",1,110,"非编码区",14300,"1.0000=27/27",null,51146,"3p14.3","NM_016161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20",69,69,1,{"$nulls":3},"A有","32630A","A4GNT","chr3:137843106","c.1023A>G(exon3)","p.X341X","rs2170309",0.65,0.69,0.68,0.71,0.69,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"1.0000=77/77",null,51146,"3p14.3","NM_016161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21",120,120,1,{"$nulls":3},"A有","32630A","A4GNT","chr3:137843476","c.653C>A(exon3)","p.A218D","rs2246945",0.65,0.69,0.68,0.71,0.69,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"非同义",12220,"1.0000=143/143",null,51146,"3p14.3","NM_016161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22",87,35,0.4,{"$nulls":3},"A有","32630A","A4GNT","chr3:137850003","c.96T>C(exon2)","p.C32C","rs2724691",0.61,0.6,0.6,0.6,0.6,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"0.4130=38/92",null,51146,"3p14.3","NM_016161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23",73,73,1,{"$nulls":3},"A有","32630A","AAAS","chr12:53703021","c.855C>T(exon9)","p.F285F","rs1546808",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,97,"同义",13203,"1.0000=81/81",null,8086,"12q13","NM_015665",null,"rs1546808|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v24",59,59,1,{"$nulls":3},"A有","32630A","AAAS","chr12:53714496","c.124-20T>C(exon2)","非编码区","rs4759231",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,97,"非编码区",16202,"1.0000=71/71",null,8086,"12q13","NM_015665",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v25",5,4,0.8,{"$nulls":3},"A有","32630A","AACS","chr12:125549956","c.-175C>T(exon1)","非编码区","rs41474647",0.15,0.21,0.17,0.26,0.27,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AACS",1,97,"非编码区",14200,"0.8000=4/5",null,65985,"12q24.31","NM_023928",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26",103,53,0.51,{"$nulls":3},"A有","32630A","AACS","chr12:125561151","c.352A>G(exon3)","p.I118V","rs11549081",0.22,0.11,0.081,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AACS",1,97,"非同义",12220,"0.5000=55/110",null,65985,"12q24.31","NM_023928",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27",135,50,0.37,{"$nulls":3},"A有","32630A","AADACL2","chr3:151463421","c.556G>T(exon4)","p.A186S","rs1972977",0.71,0.62,0.68,0.57,0.62,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AADACL2",1,190,"非同义",12220,"0.3831=59/154",null,344752,"3q25.1","NM_207365",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28",30,15,0.5,{"$nulls":3},"A有","32630A","AADACL3","chr1:12776218","c.-133A>C(exon1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,0.72,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非编码区",14200,"0.5294=18/34",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29",132,65,0.49,{"$nulls":3},"A有","32630A","AADACL3","chr1:12779560","c.81T>C(exon2)","p.D27D","rs3010876",0.85,0.79,0.8,0.79,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"同义",13203,"0.4899=73/149",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30",141,73,0.52,{"$nulls":3},"A有","32630A","AADACL3","chr1:12779618","c.139T>C(exon2)","p.S47P","rs3010877",0.85,0.8,0.8,0.79,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非同义",12220,"0.5093=82/161",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31",148,77,0.52,{"$nulls":3},"A有","32630A","AADACL3","chr1:12785494","c.584G>T(exon4)","p.C195F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非同义",12210,"0.5128=80/156",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32",4,2,0.5,{"$nulls":3},"A有","32630A","AADACL3","chr1:12786070","c.*107A>G(exon4)","非编码区","rs3000930",0.76,0.79,0.8,0.78,0.84,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非编码区",14200,"0.5000=2/4",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v33",3,3,1,{"$nulls":3},"A有","32630A","AADACL3","chr1:12788406","c.*2443G>A(exon4)","非编码区","rs3000929",0.83,0.79,0.8,0.79,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AADACL3",1,130,"非编码区",14200,"1.0000=3/3",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34",181,181,1,{"$nulls":3},"A有","32630A","AADAT","chr4:170987636","c.963-7T>C(exon10)","非编码区","rs1480544",0.74,1,1,1,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AADAT",1,220,"非编码区",16202,"1.0000=211/211",null,51166,"4q33","NM_016228",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35",166,166,1,{"$nulls":3},"A有","32630A","AADAT","chr4:170991812-170991815","c.655-12(exon6)_c.655-9(exon6)delAACC","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"AADAT",1,220,"非编码区",2500,"1.0000=194/194",null,51166,"4q33","NM_016228",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36",2,2,1,{"$nulls":3},"A有","32630A","AAGAB","chr15:67494823","c.*336C>G(exon10)","非编码区","rs10518716",0.26,0.47,0.4,0.53,0.67,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,180,"非编码区",14200,"1.0000=2/2",null,79719,"15q22.33-q23","NM_024666",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37",11,7,0.64,{"$nulls":3},"A有","32630A","AAGAB","chr15:67494922","c.*237A>G(exon10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,0.45,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,180,"非编码区",14200,"0.6667=8/12",null,79719,"15q22.33-q23","NM_024666",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38",164,71,0.43,{"$nulls":3},"A有","32630A","AAGAB","chr15:67528374","c.394A>C(exon4)","p.I132L","rs7173826",0.36,0.63,0.63,0.64,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,180,"非同义",12220,"0.4660=89/191",null,79719,"15q22.33-q23","NM_024666",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v39",36,20,0.56,{"$nulls":3},"A有","32630A","AAK1","chr2:69741609","c.1770G>A(exon13)","p.E590E","rs2276689",0.32,0.52,0.53,0.51,0.51,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AAK1",1,140,"同义",13203,"0.5676=21/37",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v40",46,46,1,{"$nulls":3},"A有","32630A","AAK1","chr2:69741754-69741756","c.1623(exon13)_c.1625(exon13)delACA","p.Q541_Q542delinsQ","rs3832159",0.36,0.52,0.54,0.51,0.042,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AAK1",1,140,"非移码",2222,"1.0000=48/48",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v41",55,55,1,{"$nulls":3},"A有","32630A","AAK1","chr2:69741854","c.1525A>C(exon13)","p.K509Q","rs6715776",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AAK1",1,140,"非同义",12230,"1.0000=57/57",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v42",82,42,0.51,{"$nulls":3},"A有","32630A","AAK1","chr2:69746142","c.1441G>C(exon12)","p.A481P","rs76509206",0.042,0.0024,0.0048,0,0.018,0.0062,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"AAK1",1,140,"非同义",12120,"0.5269=49/93",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v43",4,2,0.5,{"$nulls":3},"A有","32630A","AAK1","chr2:69870301","c.-129G>T(exon2)","非编码区","rs1396793",0.23,0.4,0.37,0.43,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AAK1",1,140,"非编码区",14200,"0.5000=2/4",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v44",21,21,1,{"$nulls":3},"A有","32630A","AAMP","chr2:219129060","c.*196T>C(exon11)","非编码区","rs2382816",0.96,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AAMP",1,64,"非编码区",14200,"1.0000=25/25",null,14,"2q35","NM_001087",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v45",155,75,0.48,{"$nulls":3},"A有","32630A","AARD","chr8:117954810","c.338T>C(exon2)","p.F113S","rs114091176",0.013,0.07,0.062,0.078,0.081,0.075,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"AARD",1,79,"非同义",12110,"0.4946=91/184",null,441376,"8q24.11","NM_001025357",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v55",53,26,0.49,{"$nulls":3},"A有","32630A","AARS","chr16:70287177","c.2715T>C(exon20)","p.V905V","rs4081753",0.88,0.96,0.97,0.95,0.95,0.97,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,99,"同义",13203,"0.4912=28/57",null,16,"16q22","NM_001605",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v56",63,35,0.56,{"$nulls":3},"A有","32630A","AARS","chr16:70303580","c.903C>T(exon7)","p.H301H","rs2070203",0.43,0.37,0.4,0.33,0.4,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",10393914,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,99,"同义",13203,"0.5758=38/66",null,16,"16q22","NM_001605","rs2070203|\"Altered_mRNA_folding\"|10393914",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v46",2,2,1,{"$nulls":3},"A有","32630A","AARS2","chr6:44266648-44266649","c.*1635(exon22)_c.*1636(exon22)insAA","非编码区","rs5875874",0.87,1,1,1,0.33,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,8,2,"AARS2",1,73,"非编码区",2420,"1.0000=2/2",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v46",2,2,1,{"$nulls":3},"A有","32630A","AARS2","chr6:44266648-44266649","c.*1635(exon22)_c.*1636(exon22)insAA","非编码区","rs5875874",0.87,1,1,1,0.33,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,8,2,"AARS2",1,73,"非编码区",2420,"1.0000=2/2",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v47",5,5,1,{"$nulls":3},"A有","32630A","AARS2","chr6:44268135","c.*149G>A(exon22)","非编码区","rs325009",0.88,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,8,2,"AARS2",1,73,"非编码区",14200,"1.0000=6/6",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v47",5,5,1,{"$nulls":3},"A有","32630A","AARS2","chr6:44268135","c.*149G>A(exon22)","非编码区","rs325009",0.88,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,8,2,"AARS2",1,73,"非编码区",14200,"1.0000=6/6",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v48",49,49,1,{"$nulls":3},"A有","32630A","AARS2","chr6:44268371","c.2871A>G(exon22)","p.S957S","rs325008",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变","CLINVAR数据库","联合氧化磷酸化缺陷8型","AR",614096,4,1,8,2,"AARS2",1,73,"同义",13303,"1.0000=50/50",null,57505,"6p21.1","NM_020745",null,"rs325008|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v48",49,49,1,{"$nulls":3},"A有","32630A","AARS2","chr6:44268371","c.2871A>G(exon22)","p.S957S","rs325008",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变","CLINVAR数据库","进行性脑白质病伴卵巢早衰","AR",615889,4,1,8,2,"AARS2",1,73,"同义",13303,"1.0000=50/50",null,57505,"6p21.1","NM_020745",null,"rs325008|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v49",63,63,1,{"$nulls":3},"A有","32630A","AARS2","chr6:44269023","c.2683-20A>G(exon21)","非编码区","rs325007",0.87,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,8,2,"AARS2",1,73,"非编码区",16202,"1.0000=70/70",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v49",63,63,1,{"$nulls":3},"A有","32630A","AARS2","chr6:44269023","c.2683-20A>G(exon21)","非编码区","rs325007",0.87,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,8,2,"AARS2",1,73,"非编码区",16202,"1.0000=70/70",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v50",52,24,0.46,{"$nulls":3},"A有","32630A","AARS2","chr6:44272284","c.1753-14C>G(exon13)","非编码区","rs74950428",0.056,0.13,0.13,0.14,0.14,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,8,2,"AARS2",1,73,"非编码区",16201,"0.4909=27/55",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v50",52,24,0.46,{"$nulls":3},"A有","32630A","AARS2","chr6:44272284","c.1753-14C>G(exon13)","非编码区","rs74950428",0.056,0.13,0.13,0.14,0.14,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,8,2,"AARS2",1,73,"非编码区",16201,"0.4909=27/55",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v51",80,38,0.47,{"$nulls":3},"A有","32630A","AARS2","chr6:44274142-44274144","c.1189-16(exon9)_c.1189-14(exon9)delTCT","非编码区","rs144914586",0.042,0.13,0.13,0.13,0.11,0.17,"杂合","未知","内含子突变",null,"联合氧化磷酸化缺陷8型","AR",614096,4,3,8,2,"AARS2",1,73,"非编码区",2500,"0.4828=42/87",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v51",80,38,0.47,{"$nulls":3},"A有","32630A","AARS2","chr6:44274142-44274144","c.1189-16(exon9)_c.1189-14(exon9)delTCT","非编码区","rs144914586",0.042,0.13,0.13,0.13,0.11,0.17,"杂合","未知","内含子突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,4,3,8,2,"AARS2",1,73,"非编码区",2500,"0.4828=42/87",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v110",125,124,0.99,{"$nulls":3},"A有","32630A","ABCA1","chr9:107586753","c.2649A>G(exon18)","p.I883M","rs2066714",0.36,0.74,0.74,0.74,0.73,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","10431237;17430597;17855807;19041386;19406964","原发性α低脂蛋白血症",null,604091,5,1,6,3,"ABCA1",1,140,"非同义",12220,"0.9930=141/142",null,19,"9q31.1","NM_005502","ILE883MET|\"Tangier_disease\"|10431237",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v111",115,113,0.98,{"$nulls":3},"A有","32630A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"丹吉尔病","AR",205400,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.9781=134/137",null,19,"9q31.1","NM_005502",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v111",115,113,0.98,{"$nulls":3},"A有","32630A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"原发性α低脂蛋白血症",null,604091,5,1,6,3,"ABCA1",1,140,"同义",13203,"0.9781=134/137",null,19,"9q31.1","NM_005502",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v112",108,108,1,{"$nulls":3},"A有","32630A","ABCA1","chr9:107620867","c.656G>A(exon7)","p.R219K","rs2230806",0.44,0.44,0.42,0.47,0.46,0.45,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16372134;11238261;12600718;16725228;17324514","丹吉尔病","AR",205400,5,1,6,3,"ABCA1",1,140,"非同义",11200,"1.0000=119/119",null,19,"9q31.1","NM_005502","ARG219LYS|\"Increased_plasma_HDL_cholesterol\"|11238261","ARG219LYS|protective|NA|OMIM:600046.0024|no assertion criteria provided|PubMed:16372134","ARG219LYS|143890|600046.0024.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v113",116,59,0.51,{"$nulls":3},"A有","32630A","ABCA1","chr9:107624029","c.474G>A(exon6)","p.L158L","rs2230805",0.37,0.41,0.4,0.43,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17553166;19606474;20167577","原发性α低脂蛋白血症",null,604091,5,2,6,3,"ABCA1",1,140,"同义",13203,"0.5040=63/125",null,19,"9q31.1","NM_005502",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v77",9,2,0.22,{"$nulls":3},"A有","32630A","ABCA10","chr17:67144684","c.*284A>T(exon40)","非编码区","rs1974577",0.71,0.47,0.51,0.44,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非编码区",14200,"0.2500=3/12",null,10349,"17q24","NM_080282",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v78",182,86,0.47,{"$nulls":3},"A有","32630A","ABCA10","chr17:67144884","c.*84C>A(exon40)","非编码区","rs1974578",0.49,0.32,0.38,0.27,0.31,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非编码区",14200,"0.4505=100/222",null,10349,"17q24","NM_080282",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v79",147,67,0.46,{"$nulls":3},"A有","32630A","ABCA10","chr17:67170736","c.3048+12T>C(exon25)","非编码区","rs740520",0.71,0.47,0.51,0.44,0.45,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非编码区",16203,"0.4540=79/174",null,10349,"17q24","NM_080282",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v80",171,85,0.5,{"$nulls":3},"A有","32630A","ABCA10","chr17:67178316","c.2747T>C(exon23)","p.M916T","rs4968849",0.71,0.47,0.51,0.44,0.45,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非同义",12220,"0.5200=104/200",null,10349,"17q24","NM_080282",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v81",97,43,0.44,{"$nulls":3},"A有","32630A","ABCA10","chr17:67178954","c.2498-5G>A(exon22)","非编码区","rs4968851",0.69,0.47,0.51,0.44,0.44,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCA10",1,220,"非编码区",16202,"0.4327=45/104",null,10349,"17q24","NM_080282",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v82",81,81,1,{"$nulls":3},"A有","32630A","ABCA12","chr2:215851246","c.4163+20T>C(exon28)","非编码区","rs7559069",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",242500,5,1,4,2,"ABCA12",1,210,"非编码区",16203,"1.0000=92/92",null,26154,"2q34","NM_173076",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v82",81,81,1,{"$nulls":3},"A有","32630A","ABCA12","chr2:215851246","c.4163+20T>C(exon28)","非编码区","rs7559069",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",601277,5,1,4,2,"ABCA12",1,210,"非编码区",16203,"1.0000=92/92",null,26154,"2q34","NM_173076",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v83",129,46,0.36,{"$nulls":3},"A有","32630A","ABCA12","chr2:215865575","c.3033A>G(exon22)","p.P1011P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,210,"同义",13203,"0.3577=49/137",null,26154,"2q34","NM_173076",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v83",129,46,0.36,{"$nulls":3},"A有","32630A","ABCA12","chr2:215865575","c.3033A>G(exon22)","p.P1011P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,210,"同义",13203,"0.3577=49/137",null,26154,"2q34","NM_173076",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v84",79,79,1,{"$nulls":3},"A有","32630A","ABCA12","chr2:215876166","c.2329T>A(exon17)","p.S777T","rs7560008",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",242500,5,1,4,2,"ABCA12",1,210,"非同义",12220,"1.0000=99/99",null,26154,"2q34","NM_173076",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v84",79,79,1,{"$nulls":3},"A有","32630A","ABCA12","chr2:215876166","c.2329T>A(exon17)","p.S777T","rs7560008",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",601277,5,1,4,2,"ABCA12",1,210,"非同义",12220,"1.0000=99/99",null,26154,"2q34","NM_173076",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v85",293,146,0.5,{"$nulls":3},"A有","32630A","ABCA12","chr2:215901774","c.888G>A(exon8)","p.V296V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,210,"同义",13203,"0.4985=171/343",null,26154,"2q34","NM_173076",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v85",293,146,0.5,{"$nulls":3},"A有","32630A","ABCA12","chr2:215901774","c.888G>A(exon8)","p.V296V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,210,"同义",13203,"0.4985=171/343",null,26154,"2q34","NM_173076",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v86",76,32,0.42,{"$nulls":3},"A有","32630A","ABCA13","chr7:48280454","c.1063-10G>A(exon10)","非编码区","rs62449168",0.12,0.2,0.15,0.25,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非编码区",16202,"0.4444=36/81",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v87",120,55,0.46,{"$nulls":3},"A有","32630A","ABCA13","chr7:48285485","c.1517C>T(exon13)","p.P506L","rs1880738",0.41,0.58,0.64,0.52,0.54,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"0.4855=67/138",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v88",97,50,0.52,{"$nulls":3},"A有","32630A","ABCA13","chr7:48287840","c.1664G>A(exon14)","p.R555H","rs2361519",0.2,0.19,0.14,0.25,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12220,"0.5225=58/111",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v89",128,59,0.46,{"$nulls":3},"A有","32630A","ABCA13","chr7:48311485","c.2222A>C(exon17)","p.E741A","rs117022697",0.013,0.091,0.067,0.12,0.099,0.087,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,22,0,"ABCA13",1,140,"非同义",12110,"0.4315=63/146",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v90",103,52,0.5,{"$nulls":3},"A有","32630A","ABCA13","chr7:48311563","c.2300T>G(exon17)","p.I767S","rs17712293",0.19,0.25,0.19,0.31,0.24,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"非同义",12210,"0.4790=57/119",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v91",133,61,0.46,{"$nulls":3},"A有","32630A","ABCA13","chr7:48312674","c.3411G>A(exon17)","p.V1137V","rs1358066",0.58,0.74,0.8,0.67,0.74,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"同义",13203,"0.4503=68/151",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v92",64,40,0.62,{"$nulls":3},"A有","32630A","ABCA13","chr7:48313949","c.4686C>T(exon17)","p.Y1562Y","rs6583483",0.13,0.2,0.14,0.25,0.2,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"ABCA13",1,140,"同义",13203,"0.6111=44/72",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v127",66,66,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"纯合","未知","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,4,1,6,5,"ABCA4",1,120,"非编码区",2500,"1.0000=80/80",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v128",135,67,0.5,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156",null,24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v128",135,67,0.5,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斯特格病变1型","AR",248200,5,3,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156",null,24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v128",135,67,0.5,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性19型-AR",null,601718,5,2,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156",null,24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v128",135,67,0.5,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视锥-视杆细胞营养不良3型",null,604116,5,2,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156",null,24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v128",135,67,0.5,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,3,6,5,"ABCA4",1,120,"同义",13203,"0.5128=80/156",null,24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v129",128,128,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143",null,24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v129",128,128,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斯特格病变1型","AR",248200,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143",null,24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v129",128,128,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性19型-AR",null,601718,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143",null,24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v129",128,128,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视锥-视杆细胞营养不良3型",null,604116,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143",null,24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v129",128,128,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,1,6,5,"ABCA4",1,120,"非编码区",16202,"1.0000=143/143",null,24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v130",65,29,0.45,{"$nulls":3},"A有","32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68",null,24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v130",65,29,0.45,{"$nulls":3},"A有","32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"斯特格病变1型","AR",248200,5,3,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68",null,24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v130",65,29,0.45,{"$nulls":3},"A有","32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"视网膜色素变性19型-AR",null,601718,5,2,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68",null,24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v130",65,29,0.45,{"$nulls":3},"A有","32630A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"视锥-视杆细胞营养不良3型",null,604116,5,2,6,5,"ABCA4",1,120,"非同义","1a200","0.4265=29/68",null,24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v131",101,101,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"年龄相关性黄斑变性2型","AD",153800,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117",null,24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v131",101,101,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"斯特格病变1型","AR",248200,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117",null,24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v131",101,101,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"视网膜色素变性19型-AR",null,601718,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117",null,24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v131",101,101,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"视锥-视杆细胞营养不良3型",null,604116,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117",null,24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v131",101,101,1,{"$nulls":3},"A有","32630A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"青少年型视网膜色素变性-AR","AR",613341,5,1,6,5,"ABCA4",1,120,"同义",13203,"1.0000=117/117",null,24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v132",258,130,0.5,{"$nulls":3},"A有","32630A","ABCA5","chr17:67260926","c.3265T>C(exon23)","p.L1089L","rs12449649",0.38,0.39,0.42,0.35,0.36,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCA5",1,220,"同义",13203,"0.5136=151/294",null,23461,"17q24.3","NM_018672",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v133",109,46,0.42,{"$nulls":3},"A有","32630A","ABCA5","chr17:67267317","c.2878A>G(exon20)","p.M960V","rs557491",0.5,0.62,0.59,0.65,0.65,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCA5",1,220,"非同义",12220,"0.4344=53/122",null,23461,"17q24.3","NM_018672",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v134",145,145,1,{"$nulls":3},"A有","32630A","ABCA5","chr17:67273882","c.2494G>T(exon18)","p.A832S","rs536009",0.8,0.95,0.95,0.96,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24957074,{"$nulls":3},5,null,4,0,"ABCA5",1,220,"非同义",12220,"1.0000=157/157",null,23461,"17q24.3","NM_018672",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v135",240,103,0.43,{"$nulls":3},"A有","32630A","ABCA5","chr17:67305488","c.384T>C(exon3)","p.G128G","rs184289333",0.0022,0.0072,0.0095,0.0049,0.012,0.014,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ABCA5",1,220,"同义",13103,"0.4276=124/290",null,23461,"17q24.3","NM_018672",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v136",217,117,0.54,{"$nulls":3},"A有","32630A","ABCA6","chr17:67075072","c.*42C>T(exon39)","非编码区","rs2302290",0.61,0.27,0.32,0.21,0.24,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非编码区",14200,"0.5263=130/247",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v137",164,79,0.48,{"$nulls":3},"A有","32630A","ABCA6","chr17:67081830","c.3965A>G(exon31)","p.N1322S","rs2302134",0.46,0.32,0.37,0.28,0.3,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非同义",12210,"0.4743=83/175",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v138",109,63,0.58,{"$nulls":3},"A有","32630A","ABCA6","chr17:67099129","c.2741-20T>C(exon21)","非编码区","rs2364315",0.43,0.27,0.32,0.21,0.24,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非编码区",16202,"0.5821=78/134",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v139",388,388,1,{"$nulls":3},"A有","32630A","ABCA6","chr17:67101718","c.2625G>A(exon20)","p.M875I","rs7212506",0.75,0.85,0.86,0.84,0.86,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17486107,{"$nulls":3},5,null,6,0,"ABCA6",1,230,"非同义",12220,"1.0000=487/487",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v140",106,46,0.43,{"$nulls":3},"A有","32630A","ABCA6","chr17:67109894","c.1783-16G>A(exon14)","非编码区","rs9282552",0.46,0.3,0.35,0.25,0.3,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非编码区",16202,"0.4173=53/127",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v141",281,136,0.48,{"$nulls":3},"A有","32630A","ABCA6","chr17:67125840","c.844G>A(exon7)","p.V282I","rs4968839",0.56,0.45,0.5,0.41,0.44,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,230,"非同义",12220,"0.4848=160/330",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v142",53,53,1,{"$nulls":3},"A有","32630A","ABCA7","chr19:1042809","c.563A>G(exon7)","p.E188G","rs3764645",0.4,0.51,0.51,0.51,0.48,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非同义",12210,"1.0000=63/63",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v143",50,49,0.98,{"$nulls":3},"A有","32630A","ABCA7","chr19:1044753","c.1215+10T>C(exon11)","非编码区","rs3764648",{"$nulls":4},0.69,0.69,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,20,0,"ABCA7",1,53,"非编码区",16303,"0.9811=52/53",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v144",19,7,0.37,{"$nulls":3},"A有","32630A","ABCA7","chr19:1047002","c.1824A>G(exon14)","p.A608A","rs3752234",0.58,0.8,0.81,0.78,0.77,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.3500=7/20",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v145",21,21,1,{"$nulls":3},"A有","32630A","ABCA7","chr19:1047161","c.1851A>G(exon15)","p.G617G","rs3752237",0.7,0.84,0.84,0.83,0.82,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"1.0000=22/22",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v146",80,80,1,{"$nulls":3},"A有","32630A","ABCA7","chr19:1049012","c.2380+8A>C(exon17)","非编码区","rs4147912",0.82,0.83,0.83,0.83,0.83,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非编码区",16203,"1.0000=92/92",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v147",48,32,0.67,{"$nulls":3},"A有","32630A","ABCA7","chr19:1049305","c.2421C>A(exon18)","p.V807V","rs4147915",0.2,0.46,0.47,0.46,0.41,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.6364=35/55",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v148",47,17,0.36,{"$nulls":3},"A有","32630A","ABCA7","chr19:1051214","c.2745A>G(exon20)","p.V915V","rs3752240",0.29,0.14,0.13,0.14,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.3137=16/51",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v149",57,30,0.53,{"$nulls":3},"A有","32630A","ABCA7","chr19:1052005","c.3027C>T(exon22)","p.A1009A","rs3764652",0.38,0.39,0.39,0.39,0.37,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.4844=31/64",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v150",28,9,0.32,{"$nulls":3},"A有","32630A","ABCA7","chr19:1053524","c.3417C>G(exon24)","p.L1139L","rs3752241",0.18,0.16,0.15,0.17,0.17,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.2941=10/34",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v151",50,16,0.32,{"$nulls":3},"A有","32630A","ABCA7","chr19:1054060","c.3528A>G(exon26)","p.L1176L","rs3752243",0.54,0.42,0.42,0.41,0.41,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.3091=17/55",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v152",26,14,0.54,{"$nulls":3},"A有","32630A","ABCA7","chr19:1055191","c.4046G>A(exon30)","p.R1349Q","rs3745842",0.39,0.39,0.39,0.39,0.37,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非同义",12220,"0.5938=19/32",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v153",60,31,0.52,{"$nulls":3},"A有","32630A","ABCA7","chr19:1056065","c.4239A>G(exon32)","p.R1413R","rs881768",0.44,0.39,0.4,0.39,0.38,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13202,"0.4853=33/68",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v154",48,48,1,{"$nulls":3},"A有","32630A","ABCA7","chr19:1056492","c.4580G>C(exon33)","p.G1527A","rs3752246",0.83,0.7,0.69,0.72,0.69,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21460841;23669301;24643655;25426068",{"$nulls":3},5,null,20,0,"ABCA7",1,53,"非同义",12220,"1.0000=52/52",null,10347,"19p13.3","NM_019112","GLY1527ALA|\"Alzheimer_disease_late-onset_association_with\"|21460841",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v155",129,63,0.49,{"$nulls":3},"A有","32630A","ABCA7","chr19:1059004","c.5401-18A>G(exon40)","非编码区","rs2279796",0.57,0.41,0.4,0.42,0.4,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非编码区",16202,"0.4861=70/144",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v156",39,17,0.44,{"$nulls":3},"A有","32630A","ABCA7","chr19:1061804","c.5487T>C(exon41)","p.N1829N","rs78320196",0.06,0.022,0.014,0.029,0.037,0.03,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.4146=17/41",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v157",24,7,0.29,{"$nulls":3},"A有","32630A","ABCA7","chr19:1064193","c.5985G>A(exon45)","p.L1995L","rs4147930",0.61,0.53,0.53,0.52,0.49,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"同义",13203,"0.2593=7/27",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v158",13,10,0.77,{"$nulls":3},"A有","32630A","ABCA7","chr19:1065018","c.6133G>T(exon46)","p.A2045S","rs4147934",0.61,0.52,0.52,0.52,0.49,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非同义",12220,"0.7692=10/13",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v159",17,14,0.82,{"$nulls":3},"A有","32630A","ABCA7","chr19:1065044","c.6159C>T(exon46)","p.G2053G","rs4147935",{"$nulls":4},0.13,0.25,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,20,0,"ABCA7",1,53,"同义",13303,"0.8333=15/18",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v160",51,27,0.53,{"$nulls":3},"A有","32630A","ABCA7","chr19:1065445","c.*21C>T(exon47)","非编码区","rs766421026",{"$nulls":5},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,20,0,"ABCA7",1,53,"非编码区",14300,"0.5094=27/53",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v161",6,5,0.83,{"$nulls":3},"A有","32630A","ABCA7","chr19:1065563","c.*139G>C(exon47)","非编码区","rs2242437",0.6,0.53,0.53,0.53,0.5,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"ABCA7",1,53,"非编码区",14200,"0.8333=5/6",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v162",145,145,1,{"$nulls":3},"A有","32630A","ABCA8","chr17:66872802","c.4122C>G(exon32)","p.P1374P","rs1481",0.81,0.99,1,0.99,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCA8",1,220,"同义",13203,"1.0000=161/161",null,10351,"17q24","NM_007168",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v163",192,79,0.41,{"$nulls":3},"A有","32630A","ABCA8","chr17:66904001","c.2038T>G(exon16)","p.C680G","rs16973424",0.03,0.1,0.12,0.087,0.11,0.13,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"ABCA8",1,220,"非同义",12110,"0.3689=83/225",null,10351,"17q24","NM_007168",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v164",193,193,1,{"$nulls":3},"A有","32630A","ABCA9","chr17:67031369","c.1128+18A>G(exon8)","非编码区","rs1860448",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCA9",1,200,"非编码区",16203,"1.0000=225/225",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v165",237,237,1,{"$nulls":3},"A有","32630A","ABCA9","chr17:67031457","c.1058G>A(exon8)","p.R353H","rs1860447",0.86,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCA9",1,200,"非同义",12220,"1.0000=283/283",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v177",77,77,1,{"$nulls":3},"A有","32630A","ABCB1","chr7:87138645","c.3435T>C(exon27)","p.I1145I","rs1045642",null,0.66,0.7,0.62,0.61,0.62,"纯合","未知","预测范围之外的同义突变","10716719;15197162;15805193;16999857;17146660","秋水仙碱抵抗",null,120080,4,1,4,2,"ABCB1",1,190,"同义",13303,"1.0000=92/92",null,5243,"7q21.12","NM_000927","rs1045642|\"Lower_P-glycoprotein_level_association_with\"|10716719",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v177",77,77,1,{"$nulls":3},"A有","32630A","ABCB1","chr7:87138645","c.3435T>C(exon27)","p.I1145I","rs1045642",null,0.66,0.7,0.62,0.61,0.62,"纯合","未知","预测范围之外的同义突变","10716719;15197162;15805193;16999857;17146660","炎性肠病13型",null,612244,4,1,4,2,"ABCB1",1,190,"同义",13303,"1.0000=92/92",null,5243,"7q21.12","NM_000927","rs1045642|\"Lower_P-glycoprotein_level_association_with\"|10716719",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v178",115,112,0.97,{"$nulls":3},"A有","32630A","ABCB1","chr7:87160618","c.2677T>G(exon22)","p.S893A","rs2032582",null,0.48,0.53,0.44,0.43,0.47,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","14610718;15197162;16103896;16999857;17146660","秋水仙碱抵抗",null,120080,3,1,4,2,"ABCB1",1,190,"非同义",12320,"0.9313=122/131",null,5243,"7q21.12","NM_000927","SER893ALA|\"Inflammatory_bowel_disease_association_with\"|14610718","SER893ALA|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v178",115,112,0.97,{"$nulls":3},"A有","32630A","ABCB1","chr7:87160618","c.2677T>G(exon22)","p.S893A","rs2032582",null,0.48,0.53,0.44,0.43,0.47,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","14610718;15197162;16103896;16999857;17146660","炎性肠病13型",null,612244,3,1,4,2,"ABCB1",1,190,"非同义",12320,"0.9313=122/131",null,5243,"7q21.12","NM_000927","SER893ALA|\"Inflammatory_bowel_disease_association_with\"|14610718","SER893ALA|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v179",204,93,0.46,{"$nulls":3},"A有","32630A","ABCB1","chr7:87214970","c.144G>T(exon5)","p.K48N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0047,2.8E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,190,"非同义",12120,"0.4714=107/227",null,5243,"7q21.12","NM_000927",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v179",204,93,0.46,{"$nulls":3},"A有","32630A","ABCB1","chr7:87214970","c.144G>T(exon5)","p.K48N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0047,2.8E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"炎性肠病13型",null,612244,3,2,4,2,"ABCB1",1,190,"非同义",12120,"0.4714=107/227",null,5243,"7q21.12","NM_000927",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v180",73,73,1,{"$nulls":3},"A有","32630A","ABCB1","chr7:87229501","c.-1A>G(exon3)","非编码区","rs2214102",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20625815,"秋水仙碱抵抗",null,120080,5,1,4,2,"ABCB1",1,190,"非编码区",14200,"1.0000=82/82",null,5243,"7q21.12","NM_000927",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v180",73,73,1,{"$nulls":3},"A有","32630A","ABCB1","chr7:87229501","c.-1A>G(exon3)","非编码区","rs2214102",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20625815,"炎性肠病13型",null,612244,5,1,4,2,"ABCB1",1,190,"非编码区",14200,"1.0000=82/82",null,5243,"7q21.12","NM_000927",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v166",190,85,0.45,{"$nulls":3},"A有","32630A","ABCB10","chr1:229661711","c.1878G>T(exon10)","p.V626V",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ABCB10",1,120,"同义",13403,"0.4700=102/217",null,23456,"1q42.13","NM_012089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v167",119,119,1,{"$nulls":3},"A有","32630A","ABCB10","chr1:229663065-229663069","c.1646-14(exon9)_c.1646-10(exon9)delTTCCT","非编码区","rs397774139",1,1,1,1,0.11,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ABCB10",1,120,"非编码区",2500,"1.0000=130/130",null,23456,"1q42.13","NM_012089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v168",6,3,0.5,{"$nulls":3},"A有","32630A","ABCB11","chr2:169779764","c.*368G>A(exon28)","非编码区","rs495714",0.51,0.64,0.62,0.66,0.83,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"非编码区",14200,"0.5000=3/6",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v168",6,3,0.5,{"$nulls":3},"A有","32630A","ABCB11","chr2:169779764","c.*368G>A(exon28)","非编码区","rs495714",0.51,0.64,0.62,0.66,0.83,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"非编码区",14200,"0.5000=3/6",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v169",7,7,1,{"$nulls":3},"A有","32630A","ABCB11","chr2:169779896","c.*236A>G(exon28)","非编码区","rs473351",null,0.94,0.93,0.96,0.91,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,9,2,"ABCB11",1,160,"非编码区",14300,"1.0000=8/8",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v169",7,7,1,{"$nulls":3},"A有","32630A","ABCB11","chr2:169779896","c.*236A>G(exon28)","非编码区","rs473351",null,0.94,0.93,0.96,0.91,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"良性复发性肝内胆汁淤积2型","AR",605479,3,1,9,2,"ABCB11",1,160,"非编码区",14300,"1.0000=8/8",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v170",77,44,0.57,{"$nulls":3},"A有","32630A","ABCB11","chr2:169789016","c.3084A>G(exon24)","p.A1028A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19101985;24969679;25323205","进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.5977=52/87",null,8647,"2q24","NM_003742","rs497692|\"Primary_biliary_cirrhosis_association_with\"|19101985",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v170",77,44,0.57,{"$nulls":3},"A有","32630A","ABCB11","chr2:169789016","c.3084A>G(exon24)","p.A1028A","rs497692",0.5,0.64,0.61,0.66,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19101985;24969679;25323205","良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.5977=52/87",null,8647,"2q24","NM_003742","rs497692|\"Primary_biliary_cirrhosis_association_with\"|19101985",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v171",108,108,1,{"$nulls":3},"A有","32630A","ABCB11","chr2:169801488","c.2344-17T>C(exon20)","非编码区","rs853789",0.86,0.99,0.98,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18521185,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,1,9,2,"ABCB11",1,160,"非编码区",16201,"1.0000=119/119",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v171",108,108,1,{"$nulls":3},"A有","32630A","ABCB11","chr2:169801488","c.2344-17T>C(exon20)","非编码区","rs853789",0.86,0.99,0.98,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18521185,"良性复发性肝内胆汁淤积2型","AR",605479,5,1,9,2,"ABCB11",1,160,"非编码区",16201,"1.0000=119/119",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v172",80,42,0.53,{"$nulls":3},"A有","32630A","ABCB11","chr2:169814655","c.2179-17C>A(exon19)","非编码区","rs853772",0.5,0.67,0.64,0.7,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"非编码区",16202,"0.5111=46/90",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v172",80,42,0.53,{"$nulls":3},"A有","32630A","ABCB11","chr2:169814655","c.2179-17C>A(exon19)","非编码区","rs853772",0.5,0.67,0.64,0.7,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"非编码区",16202,"0.5111=46/90",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v173",81,81,1,{"$nulls":3},"A有","32630A","ABCB11","chr2:169830328","c.1331T>C(exon13)","p.V444A","rs2287622",null,0.67,0.67,0.67,0.71,0.73,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","17264802;18176959;18987030;22522591;24914347","进行性家族性肝内胆汁瘀积2型","AR",601847,3,1,9,2,"ABCB11",1,160,"非同义",12320,"1.0000=86/86",null,8647,"2q24","NM_003742","VAL444ALA|\"Cholestasis_drug-induced_association_with\"|17264802","VAL444ALA|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v173",81,81,1,{"$nulls":3},"A有","32630A","ABCB11","chr2:169830328","c.1331T>C(exon13)","p.V444A","rs2287622",null,0.67,0.67,0.67,0.71,0.73,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","17264802;18176959;18987030;22522591;24914347","良性复发性肝内胆汁淤积2型","AR",605479,3,1,9,2,"ABCB11",1,160,"非同义",12320,"1.0000=86/86",null,8647,"2q24","NM_003742","VAL444ALA|\"Cholestasis_drug-induced_association_with\"|17264802","VAL444ALA|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v174",54,20,0.37,{"$nulls":3},"A有","32630A","ABCB11","chr2:169842809","c.909-15A>G(exon10)","非编码区","rs2287618",0.77,0.78,0.8,0.76,0.78,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"非编码区",16202,"0.3833=23/60",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v174",54,20,0.37,{"$nulls":3},"A有","32630A","ABCB11","chr2:169842809","c.909-15A>G(exon10)","非编码区","rs2287618",0.77,0.78,0.8,0.76,0.78,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"非编码区",16202,"0.3833=23/60",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v175",132,67,0.51,{"$nulls":3},"A有","32630A","ABCB11","chr2:169847412","c.807T>C(exon9)","p.Y269Y","rs2287616",0.065,0.31,0.27,0.35,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.5036=69/137",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v175",132,67,0.51,{"$nulls":3},"A有","32630A","ABCB11","chr2:169847412","c.807T>C(exon9)","p.Y269Y","rs2287616",0.065,0.31,0.27,0.35,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.5036=69/137",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v176",173,71,0.41,{"$nulls":3},"A有","32630A","ABCB11","chr2:169870855","c.108T>C(exon4)","p.D36D","rs3815675",0.063,0.3,0.26,0.34,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24969679,"进行性家族性肝内胆汁瘀积2型","AR",601847,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.4162=82/197",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v176",173,71,0.41,{"$nulls":3},"A有","32630A","ABCB11","chr2:169870855","c.108T>C(exon4)","p.D36D","rs3815675",0.063,0.3,0.26,0.34,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24969679,"良性复发性肝内胆汁淤积2型","AR",605479,5,3,9,2,"ABCB11",1,160,"同义",13203,"0.4162=82/197",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v181",101,101,1,{"$nulls":3},"A有","32630A","ABCB4","chr7:87032613","c.3508-16T>C(exon27)","非编码区","rs31653",0.88,0.72,0.72,0.71,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19408031,"I型胆囊疾病","AD,AR",600803,5,1,4,3,"ABCB4",1,190,"非编码区",16202,"1.0000=112/112",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v181",101,101,1,{"$nulls":3},"A有","32630A","ABCB4","chr7:87032613","c.3508-16T>C(exon27)","非编码区","rs31653",0.88,0.72,0.72,0.71,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19408031,"进行性家族性肝内胆汁瘀积3型","AR",602347,5,1,4,3,"ABCB4",1,190,"非编码区",16202,"1.0000=112/112",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v181",101,101,1,{"$nulls":3},"A有","32630A","ABCB4","chr7:87032613","c.3508-16T>C(exon27)","非编码区","rs31653",0.88,0.72,0.72,0.71,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19408031,"妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,4,3,"ABCB4",1,190,"非编码区",16202,"1.0000=112/112",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v182",83,83,1,{"$nulls":3},"A有","32630A","ABCB4","chr7:87053206","c.2211+16C>T(exon17)","非编码区","rs31668",0.87,0.71,0.71,0.71,0.69,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"I型胆囊疾病","AD,AR",600803,5,1,4,3,"ABCB4",1,190,"非编码区",16203,"1.0000=94/94",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v182",83,83,1,{"$nulls":3},"A有","32630A","ABCB4","chr7:87053206","c.2211+16C>T(exon17)","非编码区","rs31668",0.87,0.71,0.71,0.71,0.69,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性家族性肝内胆汁瘀积3型","AR",602347,5,1,4,3,"ABCB4",1,190,"非编码区",16203,"1.0000=94/94",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v182",83,83,1,{"$nulls":3},"A有","32630A","ABCB4","chr7:87053206","c.2211+16C>T(exon17)","非编码区","rs31668",0.87,0.71,0.71,0.71,0.69,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,4,3,"ABCB4",1,190,"非编码区",16203,"1.0000=94/94",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v183",112,55,0.49,{"$nulls":3},"A有","32630A","ABCB4","chr7:87056176","c.1954A>G(exon16)","p.R652G","rs2230028",0.17,0.022,0.019,0.024,0.029,0.027,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17241866;24732756;24914347","I型胆囊疾病","AD,AR",600803,5,1,4,3,"ABCB4",1,190,"非同义",12220,"0.4803=61/127",null,5244,"7q21.1","NM_018849","ARG652GLY|\"Intrahepatic_cholestasis_familial_progressive\"|17241866",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v183",112,55,0.49,{"$nulls":3},"A有","32630A","ABCB4","chr7:87056176","c.1954A>G(exon16)","p.R652G","rs2230028",0.17,0.022,0.019,0.024,0.029,0.027,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17241866;24732756;24914347","进行性家族性肝内胆汁瘀积3型","AR",602347,5,3,4,3,"ABCB4",1,190,"非同义",12220,"0.4803=61/127",null,5244,"7q21.1","NM_018849","ARG652GLY|\"Intrahepatic_cholestasis_familial_progressive\"|17241866",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v183",112,55,0.49,{"$nulls":3},"A有","32630A","ABCB4","chr7:87056176","c.1954A>G(exon16)","p.R652G","rs2230028",0.17,0.022,0.019,0.024,0.029,0.027,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17241866;24732756;24914347","妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,4,3,"ABCB4",1,190,"非同义",12220,"0.4803=61/127",null,5244,"7q21.1","NM_018849","ARG652GLY|\"Intrahepatic_cholestasis_familial_progressive\"|17241866",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v184",66,36,0.55,{"$nulls":3},"A有","32630A","ABCB4","chr7:87079406","c.711A>T(exon8)","p.I237I","rs2109505",0.26,0.26,0.28,0.24,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12746424;24366234;24914347;25593501","I型胆囊疾病","AD,AR",600803,5,1,4,3,"ABCB4",1,190,"同义",13202,"0.5753=42/73",null,5244,"7q21.1","NM_018849","rs2109505|\"Intrahepatic_cholestasis_of_pregnancy_association\"|12746424",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v184",66,36,0.55,{"$nulls":3},"A有","32630A","ABCB4","chr7:87079406","c.711A>T(exon8)","p.I237I","rs2109505",0.26,0.26,0.28,0.24,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12746424;24366234;24914347;25593501","进行性家族性肝内胆汁瘀积3型","AR",602347,5,3,4,3,"ABCB4",1,190,"同义",13202,"0.5753=42/73",null,5244,"7q21.1","NM_018849","rs2109505|\"Intrahepatic_cholestasis_of_pregnancy_association\"|12746424",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v206",139,68,0.49,{"$nulls":3},"A有","32630A","ABCC12","chr16:48122582","c.3349C>T(exon24)","p.R1117C","rs7193955",0.59,0.89,0.88,0.91,0.87,0.9,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCC12",1,130,"非同义",12210,"0.5065=78/154",null,94160,"16q12.1","NM_033226",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v215",122,122,1,{"$nulls":3},"A有","32630A","ABCC2","chr10:101544447","c.116A>T(exon2)","p.Y39F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,1,1,"ABCC2",1,130,"非同义",12230,"1.0000=146/146",null,1244,"10q24","NM_000392",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v216",106,106,1,{"$nulls":3},"A有","32630A","ABCC4","chr13:95673939","c.3871-3T>C(exon31)","非编码区","rs9524765",0.93,0.99,1,0.99,0.99,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"非编码区",16202,"1.0000=118/118",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v217",161,74,0.46,{"$nulls":3},"A有","32630A","ABCC4","chr13:95714976","c.3348G>A(exon26)","p.K1116K","rs1751034",0.79,0.81,0.82,0.81,0.77,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;24944790;25426075",{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.4536=83/183",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v218",177,77,0.43,{"$nulls":3},"A有","32630A","ABCC4","chr13:95726541","c.2844T>C(exon23)","p.F948F","rs1189466",0.9,0.82,0.84,0.81,0.79,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.4141=82/198",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v219",110,59,0.54,{"$nulls":3},"A有","32630A","ABCC4","chr13:95727780","c.2712A>G(exon22)","p.L904L","rs1678339",0.89,0.82,0.83,0.81,0.79,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.5152=68/132",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v220",64,32,0.5,{"$nulls":3},"A有","32630A","ABCC4","chr13:95858978","c.969A>G(exon8)","p.S323S","rs2274405",0.63,0.53,0.51,0.55,0.55,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18213362;18364470;25426075",{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.4853=33/68",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v221",57,28,0.49,{"$nulls":3},"A有","32630A","ABCC4","chr13:95858996","c.951A>G(exon8)","p.R317R","rs2274406",0.52,0.53,0.5,0.55,0.55,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;25426075",{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.4833=29/60",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v222",91,45,0.49,{"$nulls":3},"A有","32630A","ABCC4","chr13:95861804","c.669T>C(exon6)","p.I223I","rs899494",0.81,0.78,0.8,0.77,0.78,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;25426075",{"$nulls":3},5,null,7,0,"ABCC4",0.99,160,"同义",13203,"0.5189=55/106",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v223",68,68,1,{"$nulls":3},"A有","32630A","ABCC5","chr3:183660585","c.3624C>T(exon25)","p.L1208L","rs3749442",0.25,0.44,0.47,0.41,0.42,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=80/80",null,10057,"3q27","NM_005688",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v224",187,187,1,{"$nulls":3},"A有","32630A","ABCC5","chr3:183685534","c.1782T>C(exon12)","p.C594C","rs939336",0.69,0.85,0.87,0.82,0.84,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","14507663;24924344",{"$nulls":3},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=226/226",null,10057,"3q27","NM_005688",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v225",140,140,1,{"$nulls":3},"A有","32630A","ABCC5","chr3:183696402","c.1185T>C(exon9)","p.A395A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24924344,{"$nulls":3},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=155/155",null,10057,"3q27","NM_005688",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v226",36,23,0.64,{"$nulls":3},"A有","32630A","ABCC6","chr16:16263663","c.2835C>T(exon22)","p.P945P","rs2856585",0.12,0.24,0.23,0.25,0.25,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,87,"同义",13203,"0.6410=25/39",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v226",36,23,0.64,{"$nulls":3},"A有","32630A","ABCC6","chr16:16263663","c.2835C>T(exon22)","p.P945P","rs2856585",0.12,0.24,0.23,0.25,0.25,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤","AR",264800,5,3,5,3,"ABCC6",1,87,"同义",13203,"0.6410=25/39",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v226",36,23,0.64,{"$nulls":3},"A有","32630A","ABCC6","chr16:16263663","c.2835C>T(exon22)","p.P945P","rs2856585",0.12,0.24,0.23,0.25,0.25,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,5,3,"ABCC6",1,87,"同义",13203,"0.6410=25/39",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v227",58,58,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,87,"非同义",12230,"1.0000=61/61",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v227",58,58,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,87,"非同义",12230,"1.0000=61/61",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v227",58,58,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,87,"非同义",12230,"1.0000=61/61",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v228",58,58,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,87,"同义",13203,"1.0000=69/69",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v228",58,58,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,87,"同义",13203,"1.0000=69/69",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v228",58,58,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,87,"同义",13203,"1.0000=69/69",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v229",45,45,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,87,"非编码区",16203,"1.0000=49/49",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v229",45,45,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,87,"非编码区",16203,"1.0000=49/49",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v229",45,45,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,87,"非编码区",16203,"1.0000=49/49",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v230",51,51,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"早期弹性纤维假黄瘤","AD",177850,4,1,5,3,"ABCC6",1,87,"非编码区",16303,"1.0000=55/55",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v230",51,51,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"弹性纤维假黄瘤","AR",264800,4,1,5,3,"ABCC6",1,87,"非编码区",16303,"1.0000=55/55",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v230",51,51,1,{"$nulls":3},"A有","32630A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"婴儿期广泛性动脉钙化2型","AR",614473,4,1,5,3,"ABCC6",1,87,"非编码区",16303,"1.0000=55/55",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v231",28,10,0.36,{"$nulls":3},"A有","32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28",null,6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v231",28,10,0.36,{"$nulls":3},"A有","32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28",null,6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v231",28,10,0.36,{"$nulls":3},"A有","32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28",null,6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v231",28,10,0.36,{"$nulls":3},"A有","32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28",null,6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v231",28,10,0.36,{"$nulls":3},"A有","32630A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"非同义",12220,"0.3571=10/28",null,6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v232",68,36,0.53,{"$nulls":3},"A有","32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79",null,6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v232",68,36,0.53,{"$nulls":3},"A有","32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79",null,6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v232",68,36,0.53,{"$nulls":3},"A有","32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79",null,6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v232",68,36,0.53,{"$nulls":3},"A有","32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79",null,6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v232",68,36,0.53,{"$nulls":3},"A有","32630A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"同义",13203,"0.5190=41/79",null,6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v233",57,57,1,{"$nulls":3},"A有","32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63",null,6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v233",57,57,1,{"$nulls":3},"A有","32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63",null,6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v233",57,57,1,{"$nulls":3},"A有","32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63",null,6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v233",57,57,1,{"$nulls":3},"A有","32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63",null,6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v233",57,57,1,{"$nulls":3},"A有","32630A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿暂时性糖尿病2型",null,610374,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"1.0000=63/63",null,6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v234",39,17,0.44,{"$nulls":3},"A有","32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47",null,6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v234",39,17,0.44,{"$nulls":3},"A有","32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47",null,6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v234",39,17,0.44,{"$nulls":3},"A有","32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47",null,6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v234",39,17,0.44,{"$nulls":3},"A有","32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47",null,6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v234",39,17,0.44,{"$nulls":3},"A有","32630A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"非编码区",16202,"0.4043=19/47",null,6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v235",105,103,0.98,{"$nulls":3},"A有","32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115",null,6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v235",105,103,0.98,{"$nulls":3},"A有","32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115",null,6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v235",105,103,0.98,{"$nulls":3},"A有","32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115",null,6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v235",105,103,0.98,{"$nulls":3},"A有","32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115",null,6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v235",105,103,0.98,{"$nulls":3},"A有","32630A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿暂时性糖尿病2型",null,610374,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.9826=113/115",null,6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v236",44,25,0.57,{"$nulls":3},"A有","32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51",null,6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v236",44,25,0.57,{"$nulls":3},"A有","32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51",null,6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v236",44,25,0.57,{"$nulls":3},"A有","32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51",null,6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v236",44,25,0.57,{"$nulls":3},"A有","32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51",null,6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v236",44,25,0.57,{"$nulls":3},"A有","32630A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"非编码区",16203,"0.5686=29/51",null,6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v237",77,46,0.6,{"$nulls":3},"A有","32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86",null,6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v237",77,46,0.6,{"$nulls":3},"A有","32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86",null,6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v237",77,46,0.6,{"$nulls":3},"A有","32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86",null,6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v237",77,46,0.6,{"$nulls":3},"A有","32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86",null,6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v237",77,46,0.6,{"$nulls":3},"A有","32630A","ABCC8","chr11:17496516","c.207T>C(exon2)","p.P69P","rs1048099",0.44,0.39,0.37,0.41,0.41,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18414213;21671119","新生儿暂时性糖尿病2型",null,610374,5,2,7,5,"ABCC8",1,98,"同义",13203,"0.6279=54/86",null,6833,"11p15.1","NM_000352","rs1048099|\"Diabetes_mellitus_protection_against\"|21671119","rs1048099|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v238",223,223,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22017422","c.2199-11T>C(exon17)","非编码区","rs697250",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,220,"非编码区",16202,"1.0000=262/262",null,10060,"12p12.1","NM_020297",null,"rs697250|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v238",223,223,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22017422","c.2199-11T>C(exon17)","非编码区","rs697250",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,1,4,3,"ABCC9",1,220,"非编码区",16202,"1.0000=262/262",null,10060,"12p12.1","NM_020297",null,"rs697250|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v238",223,223,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22017422","c.2199-11T>C(exon17)","非编码区","rs697250",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,220,"非编码区",16202,"1.0000=262/262",null,10060,"12p12.1","NM_020297",null,"rs697250|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v239",191,191,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22063115","c.1296T>C(exon8)","p.P432P","rs10770865",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,220,"同义",13203,"1.0000=227/227",null,10060,"12p12.1","NM_020297",null,"rs10770865|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v239",191,191,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22063115","c.1296T>C(exon8)","p.P432P","rs10770865",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,1,4,3,"ABCC9",1,220,"同义",13203,"1.0000=227/227",null,10060,"12p12.1","NM_020297",null,"rs10770865|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v239",191,191,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22063115","c.1296T>C(exon8)","p.P432P","rs10770865",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,220,"同义",13203,"1.0000=227/227",null,10060,"12p12.1","NM_020297",null,"rs10770865|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v240",141,141,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22063749","c.1164+11A>G(exon7)","非编码区","rs4762720",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,220,"非编码区",16203,"1.0000=155/155",null,10060,"12p12.1","NM_020297",null,"rs4762720|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v240",141,141,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22063749","c.1164+11A>G(exon7)","非编码区","rs4762720",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,1,4,3,"ABCC9",1,220,"非编码区",16203,"1.0000=155/155",null,10060,"12p12.1","NM_020297",null,"rs4762720|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v240",141,141,1,{"$nulls":3},"A有","32630A","ABCC9","chr12:22063749","c.1164+11A>G(exon7)","非编码区","rs4762720",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,220,"非编码区",16203,"1.0000=155/155",null,10060,"12p12.1","NM_020297",null,"rs4762720|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v241",50,28,0.56,{"$nulls":3},"A有","32630A","ABCC9","chr12:22068849","c.574-5C>A(exon5)","非编码区","rs3759236",0.64,0.78,0.76,0.79,0.77,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,220,"非编码区",16201,"0.5818=32/55",null,10060,"12p12.1","NM_020297",null,"rs3759236|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v241",50,28,0.56,{"$nulls":3},"A有","32630A","ABCC9","chr12:22068849","c.574-5C>A(exon5)","非编码区","rs3759236",0.64,0.78,0.76,0.79,0.77,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,2,4,3,"ABCC9",1,220,"非编码区",16201,"0.5818=32/55",null,10060,"12p12.1","NM_020297",null,"rs3759236|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v241",50,28,0.56,{"$nulls":3},"A有","32630A","ABCC9","chr12:22068849","c.574-5C>A(exon5)","非编码区","rs3759236",0.64,0.78,0.76,0.79,0.77,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,220,"非编码区",16201,"0.5818=32/55",null,10060,"12p12.1","NM_020297",null,"rs3759236|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v242",9,9,1,{"$nulls":3},"A有","32630A","ABCD1","chrX:152994677","c.901-10C>T(exon2)","非编码区","rs2269365",null,0.057,0.013,0.1,0.062,0.034,"半合子","未知","剪切位点预测结果为无害",null,"X连锁肾上腺脑白质营养不良","XR",300100,4,1,2,1,"ABCD1",1,36,"非编码区",16302,"1.0000=9/9",null,215,"Xq28","NM_000033",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v243",4,4,1,{"$nulls":3},"A有","32630A","ABCD1","chrX:153009197","c.*8G>C(exon10)","非编码区","rs2229539",null,0.59,0.59,0.58,0.46,0.65,"半合子","未知","UTR突变可能影响蛋白翻译",23757202,"X连锁肾上腺脑白质营养不良","XR",300100,3,1,2,1,"ABCD1",1,36,"非编码区",14300,"1.0000=5/5",null,215,"Xq28","NM_000033",null,"rs2229539|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v244",147,147,1,{"$nulls":3},"A有","32630A","ABCE1","chr4:146046138","c.1641-4T>C(exon17)","非编码区","rs4835203",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCE1",1,270,"非编码区",16202,"1.0000=165/165",null,6059,"4q31","NM_002940",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v245",45,45,1,{"$nulls":3},"A有","32630A","ABCF2","chr7:150916228","c.939C>T(exon8)","p.Y313Y","rs6949587",0.42,0.69,0.76,0.63,0.69,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCF2",1,83,"同义",13203,"1.0000=52/52",null,10061,"7q36","NM_007189",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v246",72,72,1,{"$nulls":3},"A有","32630A","ABCF2","chr7:150921950","c.279T>C(exon3)","p.L93L","rs6464133",0.74,0.9,0.91,0.88,0.89,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCF2",1,83,"同义",13203,"1.0000=85/85",null,10061,"7q36","NM_007189",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v247",38,19,0.5,{"$nulls":3},"A有","32630A","ABCF3","chr3:183903935-183903936","c.-61(exon1)_c.-60(exon1)insG","非编码区","rs397755106",null,0.6,0.58,0.62,0.57,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ABCF3",1,91,"非编码区",2430,"0.4651=20/43",null,55324,"3q27.1","NM_018358",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v248",79,44,0.56,{"$nulls":3},"A有","32630A","ABCF3","chr3:183904049","c.54A>G(exon1)","p.Q18Q","rs11539876",0.17,0.32,0.36,0.29,0.28,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCF3",1,91,"同义",13203,"0.5638=53/94",null,55324,"3q27.1","NM_018358",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v249",63,24,0.38,{"$nulls":3},"A有","32630A","ABCF3","chr3:183907032","c.1035-11G>C(exon11)","非编码区","rs843344",0.55,0.61,0.59,0.63,0.64,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCF3",1,91,"非编码区",16202,"0.3824=26/68",null,55324,"3q27.1","NM_018358",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v250",81,35,0.43,{"$nulls":3},"A有","32630A","ABCG1","chr21:43640066","c.-16C>G(exon1)","非编码区","rs9975490",0.16,0.26,0.25,0.27,0.25,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCG1",1,88,"非编码区",14200,"0.4333=39/90",null,9619,"21q22.3","NM_207174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v251",68,31,0.46,{"$nulls":3},"A有","32630A","ABCG1","chr21:43640169","c.75+13T>C(exon1)","非编码区","rs4148100",0.16,0.26,0.25,0.27,0.25,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCG1",1,88,"非编码区",16203,"0.4211=32/76",null,9619,"21q22.3","NM_207174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v252",129,127,0.98,{"$nulls":3},"A有","32630A","ABCG2","chr4:89022362","c.1367+20G>A(exon11)","非编码区","rs2231153",0.67,0.75,0.75,0.75,0.78,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血浆尿酸浓度数量性状位点1","AD",138900,5,1,2,2,"ABCG2",1,170,"非编码区",16203,"0.9860=141/143",null,9429,"4q22","NM_004827",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v252",129,127,0.98,{"$nulls":3},"A有","32630A","ABCG2","chr4:89022362","c.1367+20G>A(exon11)","非编码区","rs2231153",0.67,0.75,0.75,0.75,0.78,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血型JUNIOR系统",null,614490,5,1,2,2,"ABCG2",1,170,"非编码区",16203,"0.9860=141/143",null,9429,"4q22","NM_004827",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v253",97,96,0.99,{"$nulls":3},"A有","32630A","ABCG2","chr4:89052323","c.421C>A(exon5)","p.Q141K","rs2231142",0.12,0.28,0.26,0.31,0.3,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","20368174;18834626;18547414;19474294;19503597","血浆尿酸浓度数量性状位点1","AD",138900,5,1,2,2,"ABCG2",1,170,"非同义",11200,"0.9904=103/104",null,9429,"4q22","NM_004827","GLN141LYS|\"Gout_association_with\"|18834626","GLN141LYS|association|OMIM:138900|OMIM:603756.0007|no assertion criteria provided|PubMed:20368174","GLN141LYS|138900|603756.0007.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v253",97,96,0.99,{"$nulls":3},"A有","32630A","ABCG2","chr4:89052323","c.421C>A(exon5)","p.Q141K","rs2231142",0.12,0.28,0.26,0.31,0.3,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","20368174;18834626;18547414;19474294;19503597","血型JUNIOR系统",null,614490,5,1,2,2,"ABCG2",1,170,"非同义",11200,"0.9904=103/104",null,9429,"4q22","NM_004827","GLN141LYS|\"Gout_association_with\"|18834626","GLN141LYS|association|OMIM:138900|OMIM:603756.0007|no assertion criteria provided|PubMed:20368174","GLN141LYS|138900|603756.0007.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v254",22,22,1,{"$nulls":3},"A有","32630A","ABCG4","chr11:119031841-119031842","c.*25(exon15)_c.*26(exon15)insC","非编码区","rs398017754",null,1,1,1,0.83,1,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ABCG4",1,62,"非编码区",2430,"1.0000=23/23",null,64137,"11q23.3","NM_022169",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v255",97,97,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44066174","c.-19T>G(exon1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.82,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16507104;19005228","谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,82,"非编码区",14200,"1.0000=113/113",null,64241,"2p21","NM_022437",null,"rs3806471|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v255",97,97,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44066174","c.-19T>G(exon1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.82,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16507104;19005228","胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,82,"非编码区",14200,"1.0000=113/113",null,64241,"2p21","NM_022437",null,"rs3806471|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v256",59,59,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44071639","c.64-7C>T(exon2)","非编码区","rs4148210",0.52,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,82,"非编码区",16202,"1.0000=63/63",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v256",59,59,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44071639","c.64-7C>T(exon2)","非编码区","rs4148210",0.52,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,82,"非编码区",16202,"1.0000=63/63",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v257",62,62,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44071743","c.161A>G(exon2)","p.Y54C","rs4148211",0.43,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17827468;15996216;19005228;20170916","谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,82,"非同义",12210,"1.0000=65/65",null,64241,"2p21","NM_022437","TYR54CYS|\"Smaller_decline_in_cholesterol_synthesis_after_weight_loss\"|17827468",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v257",62,62,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44071743","c.161A>G(exon2)","p.Y54C","rs4148211",0.43,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17827468;15996216;19005228;20170916","胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,82,"非同义",12210,"1.0000=65/65",null,64241,"2p21","NM_022437","TYR54CYS|\"Smaller_decline_in_cholesterol_synthesis_after_weight_loss\"|17827468",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v258",61,28,0.46,{"$nulls":3},"A有","32630A","ABCG8","chr2:44101537-44101538","c.1412-9(exon10)_c.1412-8(exon10)insT","非编码区","rs138296512",null,0.34,0.35,0.32,0.4,0.32,"杂合","未知","内含子突变",null,"谷甾醇血症","AR",210250,4,3,6,2,"ABCG8",1,82,"非编码区",2500,"0.4706=32/68",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v258",61,28,0.46,{"$nulls":3},"A有","32630A","ABCG8","chr2:44101537-44101538","c.1412-9(exon10)_c.1412-8(exon10)insT","非编码区","rs138296512",null,0.34,0.35,0.32,0.4,0.32,"杂合","未知","内含子突变",null,"胆囊病4型",null,611465,4,2,6,2,"ABCG8",1,82,"非编码区",2500,"0.4706=32/68",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v259",64,64,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44101538","c.1412-8C>T(exon10)","非编码区","rs28517482",0.76,0.97,0.97,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,82,"非编码区",16202,"1.0000=71/71",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v259",64,64,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44101538","c.1412-8C>T(exon10)","非编码区","rs28517482",0.76,0.97,0.97,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,82,"非编码区",16202,"1.0000=71/71",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v260",114,114,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44104925","c.1895T>C(exon13)","p.V632A","rs6544718",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","16980816;15996216;16507104;20170916","谷甾醇血症","AR",210250,3,1,6,2,"ABCG8",1,82,"非同义",12320,"1.0000=126/126",null,64241,"2p21","NM_022437","rs6544718|\"Increased_serum_cholesterol_in_low-cholesterol_consumers\"|16980816",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v260",114,114,1,{"$nulls":3},"A有","32630A","ABCG8","chr2:44104925","c.1895T>C(exon13)","p.V632A","rs6544718",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","16980816;15996216;16507104;20170916","胆囊病4型",null,611465,3,1,6,2,"ABCG8",1,82,"非同义",12320,"1.0000=126/126",null,64241,"2p21","NM_022437","rs6544718|\"Increased_serum_cholesterol_in_low-cholesterol_consumers\"|16980816",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v281",62,62,1,{"$nulls":3},"A有","32630A","ABHD1","chr2:27351948","c.411T>G(exon3)","p.D137E","rs6715286",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABHD1",1,88,"非同义",12230,"1.0000=66/66",null,84696,"2p23.3","NM_032604",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v261",11,6,0.55,{"$nulls":3},"A有","32630A","ABHD11","chr7:73150694","c.*195T>G(exon6)","非编码区","rs1136954",0.61,0.56,0.55,0.58,0.62,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABHD11",1,76,"非编码区",14200,"0.5000=7/14",null,83451,"7q11.23","NM_148912",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v262",36,14,0.39,{"$nulls":3},"A有","32630A","ABHD11","chr7:73151644","c.540T>C(exon4)","p.Y180Y","rs6460052",0.6,0.56,0.55,0.58,0.56,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABHD11",1,76,"同义",13203,"0.3810=16/42",null,83451,"7q11.23","NM_148912",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v268",43,43,1,{"$nulls":3},"A有","32630A","ABHD12","chr20:25275554-25275559","c.*50(exon13)_c.*55(exon13)delAACTAA","非编码区","rs16436",0.61,0.95,0.93,0.97,0.74,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",612674,5,1,5,1,"ABHD12",1,100,"非编码区",2420,"1.0000=54/54",null,26090,"20p11.21","NM_015600",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v269",4,4,1,{"$nulls":3},"A有","32630A","ABHD12","chr20:25281184","c.*297C>G(exon13)","非编码区","rs11100",0.54,0.94,0.93,0.95,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",612674,5,1,5,1,"ABHD12",1,100,"非编码区",14200,"1.0000=4/4",null,26090,"20p11.21","NM_001042472",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v270",35,35,1,{"$nulls":3},"A有","32630A","ABHD12","chr20:25281333","c.*148C>T(exon13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18635565,"多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,5,1,"ABHD12",1,100,"非编码区",14200,"1.0000=40/40",null,26090,"20p11.21","NM_001042472",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v271",50,50,1,{"$nulls":3},"A有","32630A","ABHD12","chr20:25281398","c.*83G>A(exon13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",612674,5,1,5,1,"ABHD12",1,100,"非编码区",14200,"1.0000=57/57",null,26090,"20p11.21","NM_001042472",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v272",32,32,1,{"$nulls":3},"A有","32630A","ABHD12","chr20:25282944","c.1068T>C(exon12)","p.D356D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","多发神经病变,听力损失,共济失调,视网膜色素变性和白内障","AR",612674,5,1,5,1,"ABHD12",1,100,"同义",13203,"1.0000=38/38",null,26090,"20p11.21","NM_001042472",null,"rs10966|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v263",211,211,1,{"$nulls":3},"A有","32630A","ABHD12B","chr14:51368610","c.844A>G(exon10)","p.I282V","rs28564871",0.28,0.46,0.47,0.46,0.46,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非同义",12220,"1.0000=243/243",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v264",110,110,1,{"$nulls":3},"A有","32630A","ABHD12B","chr14:51370784","c.943-8G>C(exon12)","非编码区","rs4901064",0.28,0.46,0.47,0.46,0.46,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非编码区",16202,"1.0000=122/122",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v265",178,178,1,{"$nulls":3},"A有","32630A","ABHD12B","chr14:51371121","c.*37C>T(exon13)","非编码区","rs4901065",0.28,0.46,0.47,0.46,0.46,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非编码区",14200,"1.0000=215/215",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v266",166,166,1,{"$nulls":3},"A有","32630A","ABHD12B","chr14:51371130","c.*46C>T(exon13)","非编码区","rs11157780",0.25,0.46,0.47,0.46,0.46,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非编码区",14200,"1.0000=198/198",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v267",142,142,1,{"$nulls":3},"A有","32630A","ABHD12B","chr14:51371150","c.*66C>T(exon13)","非编码区","rs11157781",0.28,0.46,0.47,0.46,0.46,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",0.88,140,"非编码区",14200,"1.0000=171/171",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v273",6,2,0.33,{"$nulls":3},"A有","32630A","ABHD13","chr13:108882748","c.*168A>G(exon2)","非编码区","rs9587535",0.12,0.11,0.12,0.097,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20386703,{"$nulls":3},5,null,1,0,"ABHD13",1,98,"非编码区",14200,"0.5000=4/8",null,84945,"13q33.3","NM_032859",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v274",47,47,1,{"$nulls":3},"A有","32630A","ABHD15","chr17:27889578","c.*1A>G(exon2)","非编码区","rs539307",0.74,0.95,0.94,0.95,0.93,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD15",1,43,"非编码区",14200,"1.0000=55/55",null,116236,"17q11.2","NM_198147",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v275",56,22,0.39,{"$nulls":3},"A有","32630A","ABHD15","chr17:27889963","c.1023G>C(exon2)","p.P341P","rs721479",0.22,0.21,0.2,0.22,0.22,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD15",1,43,"同义",13203,"0.4032=25/62",null,116236,"17q11.2","NM_198147",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v276",45,45,1,{"$nulls":3},"A有","32630A","ABHD15","chr17:27889986","c.1000A>G(exon2)","p.T334A","rs542939",0.77,0.89,0.88,0.9,0.89,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD15",1,43,"非同义",12220,"1.0000=49/49",null,116236,"17q11.2","NM_198147",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v277",5,5,1,{"$nulls":3},"A有","32630A","ABHD16B","chr20:62492772","c.-122C>G(exon1)","非编码区","rs6011193",0.89,0.97,0.98,0.97,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,20,"非编码区",14200,"1.0000=6/6",null,140701,"20q13.33","NM_080622",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v347",36,36,1,{"$nulls":3},"A有","32630A","ACAD10","chr12:112130708","c.187+8A>G(exon2)","非编码区","rs7132509",0.2,0.59,0.61,0.57,0.62,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAD10",1,110,"非编码区",16203,"1.0000=43/43",null,80724,"12q24.12","NM_001136538",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v348",44,44,1,{"$nulls":3},"A有","32630A","ACAD10","chr12:112191641","c.2976G>A(exon20)","p.A992A","rs2074055",0.2,0.59,0.61,0.57,0.62,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAD10",1,110,"同义",13203,"1.0000=47/47",null,80724,"12q24.12","NM_001136538",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v349",31,11,0.35,{"$nulls":3},"A有","32630A","ACAD11","chr3:132277686","c.*129A>G(exon20)","非编码区","rs76584571",0.042,0.094,0.1,0.083,0.069,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ACAD11",1,170,"非编码区",14100,"0.2973=11/37",null,84129,"3q22.1","NM_032169",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v350",175,95,0.54,{"$nulls":3},"A有","32630A","ACAD11","chr3:132337477","c.1414+1G>T(exon11)","剪切位点","rs41272317",0.042,0.099,0.1,0.092,0.067,0.067,"杂合","较高","突变在经典剪切位点上，可能影响mRNA剪切",{"$nulls":4},1,null,4,0,"ACAD11",1,170,"剪切位点",16104,"0.5584=110/197",null,84129,"3q22.1","NM_032169",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v351",178,86,0.48,{"$nulls":3},"A有","32630A","ACAD11","chr3:132338295","c.1275+17C>T(exon10)","非编码区","rs41272319",0.042,0.099,0.1,0.092,0.067,0.067,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"ACAD11",1,170,"非编码区",16103,"0.5023=108/215",null,84129,"3q22.1","NM_032169",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v352",193,193,1,{"$nulls":3},"A有","32630A","ACAD11","chr3:132360883","c.470G>A(exon4)","p.R157H","rs821572",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACAD11",1,170,"非同义",12230,"1.0000=236/236",null,84129,"3q22.1","NM_032169",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v353",32,15,0.47,{"$nulls":3},"A有","32630A","ACAD9","chr3:128598470-128598471","c.-65(exon1)_c.-64(exon1)delGT","非编码区","rs28384401",0.45,0.58,0.61,0.54,0.26,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,120,"非编码区",2420,"0.4412=15/34",null,28976,"3q21.3","NM_014049",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v354",50,50,1,{"$nulls":3},"A有","32630A","ACAD9","chr3:128614133","c.347-20C>T(exon4)","非编码区","rs1683791",0.66,0.71,0.72,0.69,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,1,5,1,"ACAD9",1,120,"非编码区",16202,"1.0000=54/54",null,28976,"3q21.3","NM_014049",null,"rs1683791|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v355",58,26,0.45,{"$nulls":3},"A有","32630A","ACAD9","chr3:128614185","c.379A>C(exon4)","p.R127R","rs1680778",0.54,0.65,0.67,0.64,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,120,"同义",13203,"0.4769=31/65",null,28976,"3q21.3","NM_014049",null,"rs1680778|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v356",49,25,0.51,{"$nulls":3},"A有","32630A","ACAD9","chr3:128627021","c.1279-7A>G(exon13)","非编码区","rs1683787",0.52,0.64,0.66,0.62,0.61,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,120,"非编码区",16202,"0.5424=32/59",null,28976,"3q21.3","NM_014049",null,"rs1683787|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v357",54,26,0.48,{"$nulls":3},"A有","32630A","ACAD9","chr3:128627933","c.1476C>T(exon14)","p.P492P","rs876755",0.31,0.58,0.61,0.54,0.55,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,120,"同义",13203,"0.4483=26/58",null,28976,"3q21.3","NM_014049",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v358",159,72,0.45,{"$nulls":3},"A有","32630A","ACADM","chr1:76194054","c.31-20C>G(exon2)","非编码区","rs7524467",0.18,0.031,0.029,0.034,0.035,0.029,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"中链酰基辅酶A脱氢酶缺乏症","AR",201450,5,3,3,1,"ACADM",1,290,"非编码区",16201,"0.4392=83/189",null,34,"1p31","NM_001127328",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v359",282,140,0.5,{"$nulls":3},"A有","32630A","ACADM","chr1:76198436","c.228+10T>C(exon3)","非编码区","rs2275378",0.23,0.031,0.029,0.034,0.035,0.028,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"中链酰基辅酶A脱氢酶缺乏症","AR",201450,5,3,3,1,"ACADM",1,290,"非编码区",16203,"0.5094=163/320",null,34,"1p31","NM_001127328",null,"rs2275378|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v360",256,123,0.48,{"$nulls":3},"A有","32630A","ACADM","chr1:76227022","c.1173A>G(exon11)","p.V391V","rs1061337",0.17,0.031,0.029,0.034,0.033,0.027,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;23810226","中链酰基辅酶A脱氢酶缺乏症","AR",201450,5,3,3,1,"ACADM",1,290,"同义",13203,"0.4826=153/317",null,34,"1p31","NM_001127328","rs1061337|\"Improved_splicing_efficiency\"|23810226","rs1061337|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v363",44,24,0.55,{"$nulls":3},"A有","32630A","ACADS","chr12:121174899","c.321T>C(exon3)","p.R107R","rs3914",0.59,0.57,0.54,0.59,0.54,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","短链酰基辅酶A脱氢酶缺乏症","AR",201470,5,3,3,1,"ACADS",1,49,"同义",13203,"0.5556=25/45",null,35,"12q24.31","NM_000017",null,"rs3914|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v364",38,19,0.5,{"$nulls":3},"A有","32630A","ACADS","chr12:121174938","c.360C>T(exon3)","p.N120N","rs76543640",0.076,0.29,0.29,0.3,0.26,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","短链酰基辅酶A脱氢酶缺乏症","AR",201470,5,3,3,1,"ACADS",1,49,"同义",13202,"0.5250=21/40",null,35,"12q24.31","NM_000017",null,"rs76543640|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v365",19,11,0.58,{"$nulls":3},"A有","32630A","ACADS","chr12:121176679","c.990C>T(exon8)","p.R330R","rs3915",null,0.57,0.54,0.59,0.54,0.53,"杂合","未知","预测范围之外的同义突变","CLINVAR数据库","短链酰基辅酶A脱氢酶缺乏症","AR",201470,4,3,3,1,"ACADS",1,49,"同义",13303,"0.6000=12/20",null,35,"12q24.31","NM_000017",null,"rs3915|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v361",173,90,0.52,{"$nulls":3},"A有","32630A","ACADSB","chr10:124800853","c.639C>T(exon5)","p.H213H","rs1140591",0.23,0.12,0.11,0.12,0.15,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,3,2,1,"ACADSB",1,200,"同义",13203,"0.5095=107/210",null,36,"10q26.13","NM_001609",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v362",2,2,1,{"$nulls":3},"A有","32630A","ACADSB","chr10:124813543","c.*262C>T(exon11)","非编码区","rs12248515",0.44,0.65,0.59,0.7,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,1,2,1,"ACADSB",1,200,"非编码区",14200,"1.0000=3/3",null,36,"10q26.13","NM_001609",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v366",9,9,1,{"$nulls":3},"A有","32630A","ACADVL","chr17:7123240-7123241","c.-367(exon1)_c.-366(exon1)insGGGCGTGCAGGACGC","非编码区","rs139223575",null,0.47,0.46,0.48,0.075,0.51,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,3,1,2,1,"ACADVL",0.39,15,"非编码区",2430,"1.0000=9/9",null,37,"17p13.1","NM_001270448",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v367",86,85,0.99,{"$nulls":3},"A有","32630A","ACADVL","chr17:7127718","c.1377+6T>C(exon15)","非编码区","rs17671352",0.52,0.47,0.46,0.48,0.51,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,5,1,2,1,"ACADVL",0.39,15,"非编码区",16201,"0.9892=92/93",null,37,"17p13.1","NM_001270448",null,"rs17671352|Benign|OMIM:201475|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v368",112,58,0.52,{"$nulls":3},"A有","32630A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"同义",13203,"0.5120=64/125",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v368",112,58,0.52,{"$nulls":3},"A有","32630A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"0.5120=64/125",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v368",112,58,0.52,{"$nulls":3},"A有","32630A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,8,3,"ACAN",1,120,"同义",13203,"0.5120=64/125",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v369",33,33,1,{"$nulls":3},"A有","32630A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"同义",13203,"1.0000=36/36",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v369",33,33,1,{"$nulls":3},"A有","32630A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=36/36",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v369",33,33,1,{"$nulls":3},"A有","32630A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=36/36",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v370",129,61,0.47,{"$nulls":3},"A有","32630A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"杂合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,8,3,"ACAN",1,120,"同义",13303,"0.4685=67/143",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v370",129,61,0.47,{"$nulls":3},"A有","32630A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"杂合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,8,3,"ACAN",1,120,"同义",13303,"0.4685=67/143",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v370",129,61,0.47,{"$nulls":3},"A有","32630A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"杂合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,2,8,3,"ACAN",1,120,"同义",13303,"0.4685=67/143",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v371",108,53,0.49,{"$nulls":3},"A有","32630A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"非同义",12210,"0.4962=66/133",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v371",108,53,0.49,{"$nulls":3},"A有","32630A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"非同义",12210,"0.4962=66/133",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v371",108,53,0.49,{"$nulls":3},"A有","32630A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,8,3,"ACAN",1,120,"非同义",12210,"0.4962=66/133",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v372",61,41,0.67,{"$nulls":3},"A有","32630A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,120,"非同义",12220,"0.6515=43/66",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v374",49,23,0.47,{"$nulls":3},"A有","32630A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"非同义",12220,"0.4727=26/55",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v374",49,23,0.47,{"$nulls":3},"A有","32630A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,2,8,3,"ACAN",1,120,"非同义",12220,"0.4727=26/55",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v375",44,44,1,{"$nulls":3},"A有","32630A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","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",1,120,"同义",13203,"1.0000=54/54",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v375",44,44,1,{"$nulls":3},"A有","32630A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=54/54",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v375",44,44,1,{"$nulls":3},"A有","32630A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=54/54",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v376",76,76,1,{"$nulls":3},"A有","32630A","ACAP2","chr3:194999996","c.*61A>T(exon23)","非编码区","rs7610022",0.82,0.96,0.96,0.96,0.94,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACAP2",1,200,"非编码区",14200,"1.0000=88/88",null,23527,"3q29","NM_012287",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v377",37,24,0.65,{"$nulls":3},"A有","32630A","ACAP3","chr1:1231507","c.1408-18C>T(exon17)","非编码区","rs619608",0.12,0.15,0.17,0.14,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAP3",1,36,"非编码区",16202,"0.6486=24/37",null,116983,"-","NM_030649",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v378",35,18,0.51,{"$nulls":3},"A有","32630A","ACAP3","chr1:1233941","c.863+6A>G(exon11)","非编码区","rs1739855",0.5,0.75,0.8,0.7,0.7,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAP3",1,36,"非编码区",16202,"0.5405=20/37",null,116983,"-","NM_030649",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v379",11,4,0.36,{"$nulls":3},"A有","32630A","ACAT1","chr11:107992325","c.-9T>A(exon1)","非编码区","rs3741055",0.31,0.37,0.39,0.36,0.31,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"线粒体乙酰乙酰辅酶A硫解酶缺乏症/β-酮硫解酶/短链3-酮脂酰辅酶A硫解酶缺乏症","AR",203750,5,3,2,1,"ACAT1",1,210,"非编码区",14200,"0.4615=6/13",null,38,"11q22.3","NM_000019",null,"rs3741055|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v380",8,3,0.38,{"$nulls":3},"A有","32630A","ACAT1","chr11:107992346","c.13G>C(exon1)","p.A5P","rs3741056",0.33,0.37,0.39,0.36,0.32,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"线粒体乙酰乙酰辅酶A硫解酶缺乏症/β-酮硫解酶/短链3-酮脂酰辅酶A硫解酶缺乏症","AR",203750,5,3,2,1,"ACAT1",1,210,"非同义",12220,"0.5000=5/10",null,38,"11q22.3","NM_000019",null,"ALA5PRO|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v381",104,47,0.45,{"$nulls":3},"A有","32630A","ACAT2","chr6:160196343","c.632A>G(exon5)","p.K211R","rs25683",0.37,0.14,0.15,0.13,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,2,1,"ACAT2",1,140,"非同义",12220,"0.4583=55/120",null,39,"6q25.3","NM_005891",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v382",119,51,0.43,{"$nulls":3},"A有","32630A","ACAT2","chr6:160199687","c.1024-4T>C(exon9)","非编码区","rs15982",0.68,0.57,0.57,0.56,0.6,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15121791;16465465","乙酰辅酶A乙酰基转移酶2缺乏症",null,614055,5,2,2,1,"ACAT2",1,140,"非编码区",16202,"0.4130=57/138",null,39,"6q25.3","NM_005891","rs15982|\"Schizophrenia_association_with\"|15121791",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v383",87,43,0.49,{"$nulls":3},"A有","32630A","ACBD3","chr1:226352498","c.561A>C(exon3)","p.E187D","rs2306120",0.53,0.45,0.41,0.49,0.42,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACBD3",1,100,"非同义",12220,"0.4574=43/94",null,64746,"1q42.12","NM_022735",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v384",111,111,1,{"$nulls":3},"A有","32630A","ACBD5","chr10:27508758","c.513A>G(exon5)","p.P171P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACBD5",1,160,"同义",13203,"1.0000=124/124",null,91452,"10p12.1","NM_001271512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v385",63,60,0.95,{"$nulls":3},"A有","32630A","ACBD5","chr10:27529549","c.-127G>T(exon1)","非编码区","rs2797078",0.68,0.51,0.48,0.54,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACBD5",1,160,"非编码区",14200,"0.9552=64/67",null,91452,"10p12.1","NM_001271512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v386",61,61,1,{"$nulls":3},"A有","32630A","ACBD5","chr10:27529565","c.-143A>G(exon1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACBD5",1,160,"非编码区",14200,"1.0000=66/66",null,91452,"10p12.1","NM_001271512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v388",65,65,1,{"$nulls":3},"A有","32630A","ACCS","chr11:44089161","c.1-17G>A(exon2)","非编码区","rs178514",0.83,0.88,0.89,0.87,0.9,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACCS",1,82,"非编码区",16202,"1.0000=75/75",null,84680,"11p11","NM_032592",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v389",101,52,0.51,{"$nulls":3},"A有","32630A","ACCS","chr11:44089352","c.175G>A(exon2)","p.D59N","rs33952257",0.27,0.36,0.35,0.37,0.36,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACCS",1,82,"非同义",12220,"0.4953=53/107",null,84680,"11p11","NM_032592",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v390",82,82,1,{"$nulls":3},"A有","32630A","ACCS","chr11:44096238","c.489+7G>A(exon5)","非编码区","rs178521",0.77,0.94,0.95,0.94,0.95,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACCS",1,82,"非编码区",16203,"1.0000=97/97",null,84680,"11p11","NM_032592",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v391",55,55,1,{"$nulls":3},"A有","32630A","ACCS","chr11:44104701-44104702","c.1112-18(exon13)_c.1112-17(exon13)insCT","非编码区","rs79395013",0.77,0.94,0.95,0.94,0.92,0.92,"纯合","未知","内含子突变",{"$nulls":4},4,null,5,0,"ACCS",1,82,"非编码区",2500,"1.0000=65/65",null,84680,"11p11","NM_032592",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v392",47,16,0.34,{"$nulls":3},"A有","32630A","ACCS","chr11:44104981","c.1262C>T(exon14)","p.P421L","rs3107275",0.4,0.53,0.54,0.51,0.48,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16741161,{"$nulls":3},5,null,5,0,"ACCS",1,82,"非同义",12210,"0.3273=18/55",null,84680,"11p11","NM_032592","PRO421LEU|\"Lung_cancer_susceptibility_to_association_with\"|16741161",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v387",65,65,1,{"$nulls":3},"A有","32630A","ACCSL","chr11:44080210","c.1585T>C(exon13)","p.C529R","rs2074051",0.79,0.87,0.87,0.88,0.89,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACCSL",1,99,"非同义",12220,"1.0000=74/74",null,390110,"11p11.2","NM_001031854",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v398",51,30,0.59,{"$nulls":3},"A有","32630A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"同义",13203,"0.6034=35/58",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v398",51,30,0.59,{"$nulls":3},"A有","32630A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"同义",13203,"0.6034=35/58",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v404",46,23,0.5,{"$nulls":3},"A有","32630A","ACE","chr17:61573761","c.3387T>C(exon23)","p.F1129F","rs4362",0.59,0.68,0.66,0.71,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;18076107;19105203;19132786;20416077","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"同义",13203,"0.5455=30/55",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v405",18,10,0.56,{"$nulls":3},"A有","32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v405",18,10,0.56,{"$nulls":3},"A有","32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","肾小管发育不良","AR",267430,5,3,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v405",18,10,0.56,{"$nulls":3},"A有","32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","心肌梗塞,易感1型",null,608446,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v405",18,10,0.56,{"$nulls":3},"A有","32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","糖尿病微血管并发症,易感3型",null,612624,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v405",18,10,0.56,{"$nulls":3},"A有","32630A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","脑出血、中风（易感）",null,614519,5,2,8,5,"ACE",1,71,"非编码区",16202,"0.5500=11/20",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v393",168,167,0.99,{"$nulls":3},"A有","32630A","ACE2","chrX:15610348","c.439+4G>A(exon4)","非编码区","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"半合子","未知","剪切位点预测结果为无害","18560893;19684612;20125035;21490025;24926374",{"$nulls":3},4,null,2,0,"ACE2",1,120,"非编码区",16302,"0.9950=199/200",null,59272,"Xp22","NM_021804",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v394",85,85,1,{"$nulls":3},"A有","32630A","ACE2","chrX:15618933","c.102C>T(exon2)","p.H34H","rs368655410",{"$nulls":5},0.0006,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACE2",1,120,"同义",13303,"1.0000=95/95",null,59272,"Xp22","NM_021804",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v395",49,25,0.51,{"$nulls":3},"A有","32630A","ACER1","chr19:6312290","c.220A>G(exon3)","p.M74V","rs72981971",0.16,0.37,0.36,0.39,0.34,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACER1",1,75,"非同义",12220,"0.5424=32/59",null,125981,"19p13.3","NM_133492",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v396",116,63,0.54,{"$nulls":3},"A有","32630A","ACER3","chr11:76687399","c.320+14A>C(exon4)","非编码区","rs1517909",0.66,0.66,0.64,0.67,0.67,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACER3",1,200,"非编码区",16203,"0.5857=82/140",null,55331,"11q13.5","NM_018367",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v397",173,82,0.47,{"$nulls":3},"A有","32630A","ACER3","chr11:76701606","c.426G>A(exon6)","p.P142P","rs3740767",0.53,0.66,0.64,0.67,0.67,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19586928,{"$nulls":3},5,null,2,0,"ACER3",1,200,"同义",13203,"0.4804=98/204",null,55331,"11q13.5","NM_018367",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v406",48,24,0.5,{"$nulls":3},"A有","32630A","ACIN1","chr14:23530622","c.3483A>G(exon17)","p.S1161S","rs60168438",0.25,0.26,0.27,0.26,0.3,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACIN1",1,83,"同义",13203,"0.4464=25/56",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v407",42,42,1,{"$nulls":3},"A有","32630A","ACIN1","chr14:23549379","c.1339G>C(exon6)","p.A447P","rs941719",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACIN1",1,83,"非同义",12230,"1.0000=51/51",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v408",57,57,1,{"$nulls":3},"A有","32630A","ACLY","chr17:40024023","c.*40T>A(exon29)","非编码区","rs7217218",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,92,"非编码区",14200,"1.0000=69/69",null,47,"17q21.2","NM_001096",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v409",122,122,1,{"$nulls":3},"A有","32630A","ACLY","chr17:40025285","c.3134+11T>C(exon27)","非编码区","rs9914829",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,92,"非编码区",16203,"1.0000=130/130",null,47,"17q21.2","NM_001096",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v410",41,40,0.98,{"$nulls":3},"A有","32630A","ACLY","chr17:40028450","c.2643-15T>A(exon24)","非编码区","rs8071627",0.78,0.82,0.85,0.79,0.83,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,92,"非编码区",16201,"0.9783=45/46",null,47,"17q21.2","NM_001096",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v411",84,84,1,{"$nulls":3},"A有","32630A","ACLY","chr17:40048613","c.1689T>C(exon16)","p.H563H","rs8065502",0.9,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,92,"同义",13203,"1.0000=92/92",null,47,"17q21.2","NM_001096",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v412",220,110,0.5,{"$nulls":3},"A有","32630A","ACMSD","chr2:135616891","c.163G>C(exon3)","p.D55H","rs117363436",2E-3,0.014,0.014,0.015,0.015,0.015,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"ACMSD",1,200,"非同义",12110,"0.4942=127/257",null,130013,"2q21.3","NM_138326",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v413",80,38,0.47,{"$nulls":3},"A有","32630A","ACO1","chr9:32425910","c.1263A>G(exon11)","p.E421E","rs3780473",0.35,0.58,0.57,0.59,0.54,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18755042;20403199",{"$nulls":3},5,null,2,0,"ACO1",1,170,"同义",13203,"0.4943=43/87",null,48,"9p21.1","NM_002197",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v414",38,19,0.5,{"$nulls":3},"A有","32630A","ACO1","chr9:32450187","c.*78T>C(exon21)","非编码区","rs12985",0.4,0.54,0.53,0.54,0.54,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18755042,{"$nulls":3},5,null,2,0,"ACO1",1,170,"非编码区",14200,"0.5250=21/40",null,48,"9p21.1","NM_002197",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v415",68,33,0.49,{"$nulls":3},"A有","32630A","ACO2","chr22:41903813","c.192A>C(exon3)","p.T64T","rs137831",0.42,0.6,0.62,0.57,0.5,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","婴儿大脑-视网膜退化症","AR",614559,5,3,2,1,"ACO2",1,84,"同义",13203,"0.4459=33/74",null,50,"22q13.2","NM_001098",null,"rs137831|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v416",53,26,0.49,{"$nulls":3},"A有","32630A","ACO2","chr22:41914593","c.1032+17C>T(exon8)","非编码区","rs203319",0.48,0.59,0.62,0.57,0.52,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",15767273,"婴儿大脑-视网膜退化症","AR",614559,5,3,2,1,"ACO2",1,84,"非编码区",16203,"0.5345=31/58",null,50,"22q13.2","NM_001098",null,"rs203319|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v417",44,20,0.45,{"$nulls":3},"A有","32630A","ACOT11","chr1:55060251","c.494C>T(exon6)","p.P165L","rs2304306",0.081,0.19,0.16,0.22,0.21,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非同义",12210,"0.4118=21/51",null,26027,"1p32.3","NM_147161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v418",69,33,0.48,{"$nulls":3},"A有","32630A","ACOT11","chr1:55062960","c.636G>A(exon7)","p.M212I","rs2304305",0.03,0.091,0.1,0.083,0.11,0.13,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ACOT11",1,65,"非同义",12120,"0.4459=33/74",null,26027,"1p32.3","NM_147161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v419",45,31,0.69,{"$nulls":3},"A有","32630A","ACOT11","chr1:55074922","c.*137G>A(exon16)","非编码区","rs2289016",0.24,0.37,0.4,0.34,0.35,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",14200,"0.6792=36/53",null,26027,"1p32.3","NM_147161",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v420",23,15,0.65,{"$nulls":3},"A有","32630A","ACOT11","chr1:55075993","c.*1208G>A(exon16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,0.2,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",14200,"0.6538=17/26",null,26027,"1p32.3","NM_147161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v421",129,66,0.51,{"$nulls":3},"A有","32630A","ACOT12","chr5:80631740","c.1129-20A>T(exon12)","非编码区","rs376835484",{"$nulls":4},1E-3,0,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"ACOT12",1,160,"非编码区",16302,"0.4865=72/148",null,134526,"5q14.1","NM_130767",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v422",141,141,1,{"$nulls":3},"A有","32630A","ACOT13","chr6:24687765","c.-145A>G(exon2)","非编码区","rs926529",0.8,0.87,0.88,0.85,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15514892;15717286",{"$nulls":3},5,null,1,0,"ACOT13",1,190,"非编码区",14200,"1.0000=173/173",null,55856,"6p22.3","NM_001160094",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v423",41,41,1,{"$nulls":3},"A有","32630A","ACOT2","chr14:74041748","c.983A>G(exon3)","p.H328R","rs149033118",{"$nulls":4},0.86,0.93,"纯合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"ACOT2",1,87,"非同义",12310,"1.0000=47/47",null,10965,"14q24.3","NM_006821",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v424",22,22,1,{"$nulls":3},"A有","32630A","ACOT2","chr14:74042189","c.1424A>G(exon3)","p.H475R","rs7494",{"$nulls":4},0.78,0.8,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"ACOT2",1,87,"非同义",12320,"1.0000=24/24",null,10965,"14q24.3","NM_006821",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v425",15,7,0.47,{"$nulls":3},"A有","32630A","ACOT4","chr14:74058832","c.169C>T(exon1)","p.R57C","rs3742819",0.4,0.62,0.61,0.64,0.63,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOT4",1,100,"非同义",12220,"0.4706=8/17",null,122970,"14q24.3","NM_152331",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v426",107,107,1,{"$nulls":3},"A有","32630A","ACOT4","chr14:74061968","c.876T>C(exon3)","p.I292I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOT4",1,100,"同义",13203,"1.0000=122/122",null,122970,"14q24.3","NM_152331",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v427",100,100,1,{"$nulls":3},"A有","32630A","ACOT6","chr14:74083846","c.-33C>T(exon1)","非编码区","rs12891009",0.46,0.65,0.64,0.66,0.65,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACOT6",1,100,"非编码区",14200,"1.0000=115/115",null,641372,"14q24.3","NM_001037162",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v464",190,172,0.91,{"$nulls":3},"A有","32630A","ACSM2A","chr16:20476852","c.191T>C(exon4)","p.L64P","rs7187246",0.51,0.73,0.68,0.78,0.6,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACSM2A",1,260,"非同义",12220,"0.9155=195/213",null,123876,"16p12.3","NM_001010845",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v466",264,264,1,{"$nulls":3},"A有","32630A","ACSM2A","chr16:20488696","c.1104A>G(exon10)","p.L368L","rs1700805",0.48,0.74,0.68,0.81,0.56,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACSM2A",1,260,"同义",13203,"1.0000=320/320",null,123876,"16p12.3","NM_001010845",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v467",114,114,1,{"$nulls":3},"A有","32630A","ACSM2B","chr16:20570661","c.286A>G(exon4)","p.I96V","rs8056693",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSM2B",1,270,"非同义",12220,"1.0000=131/131",null,348158,"16p12.3","NM_182617",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v468",161,161,1,{"$nulls":3},"A有","32630A","ACSM2B","chr16:20576048","c.120G>T(exon3)","p.V40V","rs112352583",0.27,0.69,0.7,0.69,0.68,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSM2B",1,270,"同义",13203,"1.0000=193/193",null,348158,"16p12.3","NM_182617",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v469",91,91,1,{"$nulls":3},"A有","32630A","ACSM4","chr12:7463241","c.519A>T(exon3)","p.P173P","rs7968241",null,0.39,0.38,0.4,0.38,0.38,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACSM4",1,180,"同义",13303,"1.0000=102/102",null,341392,"12p13.31","NM_001080454",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v470",38,13,0.34,{"$nulls":3},"A有","32630A","ACSM5","chr16:20423000","c.194G>A(exon2)","p.R65Q","rs9928053",0.08,0.055,0.043,0.068,0.054,0.044,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12220,"0.3125=15/48",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v471",108,60,0.56,{"$nulls":3},"A有","32630A","ACSM5","chr16:20430678","c.544G>A(exon4)","p.E182K","rs7192210",0.099,0.05,0.038,0.063,0.054,0.043,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12220,"0.5714=68/119",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v472",101,47,0.47,{"$nulls":3},"A有","32630A","ACSM5","chr16:20432605","c.649A>G(exon5)","p.M217V","rs59025904",0.14,0.058,0.052,0.063,0.059,0.048,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12220,"0.5000=59/118",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v473",78,34,0.44,{"$nulls":3},"A有","32630A","ACSM5","chr16:20435262","c.792T>G(exon6)","p.S264S","rs12103211",0.15,0.058,0.052,0.063,0.059,0.048,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"同义",13203,"0.4458=37/83",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v474",66,32,0.48,{"$nulls":3},"A有","32630A","ACSM5","chr16:20435314","c.844C>T(exon6)","p.L282F","rs73545426",0.066,0.05,0.038,0.063,0.054,0.043,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12220,"0.5070=36/71",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v475",99,99,1,{"$nulls":3},"A有","32630A","ACSM5","chr16:20441053","c.1055C>G(exon8)","p.P352R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非同义",12210,"1.0000=118/118",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v476",114,114,1,{"$nulls":3},"A有","32630A","ACSM5","chr16:20441084","c.1086T>C(exon8)","p.T362T","rs8063682",0.54,0.72,0.67,0.78,0.76,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"同义",13203,"1.0000=134/134",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v477",147,147,1,{"$nulls":3},"A有","32630A","ACSM5","chr16:20448520","c.1436+19T>C(exon11)","非编码区","rs7499667",0.46,0.73,0.68,0.78,0.75,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非编码区",16203,"1.0000=166/166",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v478",6,6,1,{"$nulls":3},"A有","32630A","ACSM5","chr16:20452097","c.*348T>C(exon14)","非编码区","rs12599141",0.5,0.73,0.69,0.78,0.8,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ACSM5",1,140,"非编码区",14200,"1.0000=6/6",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v479",29,29,1,{"$nulls":3},"A有","32630A","ACSS1","chr20:25038484","c.255C>A(exon1)","p.T85T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSS1",0.96,75,"同义",13203,"1.0000=29/29",null,84532,"20p11.23-p11.21","NM_032501",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v480",215,118,0.55,{"$nulls":3},"A有","32630A","ACSS2","chr20:33470694","c.276C>T(exon2)","p.F92F","rs4911163",0.51,0.44,0.47,0.41,0.43,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20403199,{"$nulls":3},5,null,2,0,"ACSS2",1,120,"同义",13203,"0.5703=142/249",null,55902,"20q11.22","NM_001076552",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v481",97,49,0.51,{"$nulls":3},"A有","32630A","ACSS2","chr20:33509275","c.1449+10G>A(exon12)","非编码区","rs3818273",0.51,0.44,0.47,0.41,null,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSS2",1,120,"非编码区",16203,"0.5000=53/106",null,55902,"20q11.22","NM_001076552",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v482",153,78,0.51,{"$nulls":3},"A有","32630A","ACSS3","chr12:81627238","c.1707C>T(exon13)","p.G569G","rs1921038",0.18,0.23,0.25,0.21,0.2,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSS3",1,210,"同义",13203,"0.5087=88/173",null,79611,"12q21.31","NM_024560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v483",59,27,0.46,{"$nulls":3},"A有","32630A","ACTA2","chr10:90701645","c.370-19T>C(exon5)","非编码区","rs714887",0.17,0.28,0.26,0.3,null,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性胸主动脉瘤6型",null,611788,5,2,3,3,"ACTA2",1,150,"非编码区",16202,"0.4462=29/65",null,59,"10q23.3","NM_001141945",null,"rs714887|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v483",59,27,0.46,{"$nulls":3},"A有","32630A","ACTA2","chr10:90701645","c.370-19T>C(exon5)","非编码区","rs714887",0.17,0.28,0.26,0.3,null,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","多系统平滑肌功能障碍综合征","AD",613834,5,1,3,3,"ACTA2",1,150,"非编码区",16202,"0.4462=29/65",null,59,"10q23.3","NM_001141945",null,"rs714887|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v483",59,27,0.46,{"$nulls":3},"A有","32630A","ACTA2","chr10:90701645","c.370-19T>C(exon5)","非编码区","rs714887",0.17,0.28,0.26,0.3,null,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","烟雾病5型",null,614042,5,2,3,3,"ACTA2",1,150,"非编码区",16202,"0.4462=29/65",null,59,"10q23.3","NM_001141945",null,"rs714887|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v484",6,4,0.67,{"$nulls":3},"A有","32630A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24669260,"家族性胸主动脉瘤6型",null,611788,5,2,3,3,"ACTA2",1,150,"非编码区",14200,"0.5714=4/7",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v484",6,4,0.67,{"$nulls":3},"A有","32630A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24669260,"多系统平滑肌功能障碍综合征","AD",613834,5,1,3,3,"ACTA2",1,150,"非编码区",14200,"0.5714=4/7",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v484",6,4,0.67,{"$nulls":3},"A有","32630A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24669260,"烟雾病5型",null,614042,5,2,3,3,"ACTA2",1,150,"非编码区",14200,"0.5714=4/7",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v485",4,4,1,{"$nulls":3},"A有","32630A","ACTA2","chr10:90750982","c.-310A>C(exon1)","非编码区","rs7079111",0.94,1,1,1,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性胸主动脉瘤6型",null,611788,5,1,3,3,"ACTA2",1,150,"非编码区",14200,"1.0000=4/4",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v485",4,4,1,{"$nulls":3},"A有","32630A","ACTA2","chr10:90750982","c.-310A>C(exon1)","非编码区","rs7079111",0.94,1,1,1,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"多系统平滑肌功能障碍综合征","AD",613834,5,1,3,3,"ACTA2",1,150,"非编码区",14200,"1.0000=4/4",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v485",4,4,1,{"$nulls":3},"A有","32630A","ACTA2","chr10:90750982","c.-310A>C(exon1)","非编码区","rs7079111",0.94,1,1,1,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"烟雾病5型",null,614042,5,1,3,3,"ACTA2",1,150,"非编码区",14200,"1.0000=4/4",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v486",7,4,0.57,{"$nulls":3},"A有","32630A","ACTB","chr7:5567112","c.*267G>A(exon6)","非编码区","rs386420777",0.32,0.22,0.2,0.23,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Baraitser-Winter综合征1","AD",243310,5,1,2,2,"ACTB",1,93,"非编码区",14200,"0.6250=5/8",null,60,"7p22","NM_001101",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v486",7,4,0.57,{"$nulls":3},"A有","32630A","ACTB","chr7:5567112","c.*267G>A(exon6)","非编码区","rs386420777",0.32,0.22,0.2,0.23,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"青少年肌张力障碍","AD",607371,5,1,2,2,"ACTB",1,93,"非编码区",14200,"0.6250=5/8",null,60,"7p22","NM_001101",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v487",34,19,0.56,{"$nulls":3},"A有","32630A","ACTB","chr7:5568366","c.364-16T>C(exon4)","非编码区","rs852423",0.48,0.25,0.24,0.26,0.29,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24846176,"Baraitser-Winter综合征1","AD",243310,5,1,2,2,"ACTB",1,93,"非编码区",16202,"0.5263=20/38",null,60,"7p22","NM_001101",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v487",34,19,0.56,{"$nulls":3},"A有","32630A","ACTB","chr7:5568366","c.364-16T>C(exon4)","非编码区","rs852423",0.48,0.25,0.24,0.26,0.29,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24846176,"青少年肌张力障碍","AD",607371,5,1,2,2,"ACTB",1,93,"非编码区",16202,"0.5263=20/38",null,60,"7p22","NM_001101",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v488",79,79,1,{"$nulls":3},"A有","32630A","ACTG1","chr17:79478019","c.918C>T(exon5)","p.Y306Y","rs1139405",0.76,0.87,0.88,0.87,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体显性遗传性耳聋20型","AD",604717,5,1,2,2,"ACTG1",1,82,"同义",13203,"1.0000=87/87",null,71,"17q25","NM_001199954",null,"rs1139405|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v488",79,79,1,{"$nulls":3},"A有","32630A","ACTG1","chr17:79478019","c.918C>T(exon5)","p.Y306Y","rs1139405",0.76,0.87,0.88,0.87,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"Baraitser-Winter综合征2",null,614583,5,1,2,2,"ACTG1",1,82,"同义",13203,"1.0000=87/87",null,71,"17q25","NM_001199954",null,"rs1139405|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v489",76,75,0.99,{"$nulls":3},"A有","32630A","ACTG1","chr17:79478916","c.363+13C>A(exon3)","非编码区","rs9910792",0.56,0.87,0.88,0.86,0.88,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体显性遗传性耳聋20型","AD",604717,5,1,2,2,"ACTG1",1,82,"非编码区",16203,"0.9886=87/88",null,71,"17q25","NM_001199954",null,"rs9910792|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v489",76,75,0.99,{"$nulls":3},"A有","32630A","ACTG1","chr17:79478916","c.363+13C>A(exon3)","非编码区","rs9910792",0.56,0.87,0.88,0.86,0.88,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"Baraitser-Winter综合征2",null,614583,5,1,2,2,"ACTG1",1,82,"非编码区",16203,"0.9886=87/88",null,71,"17q25","NM_001199954",null,"rs9910792|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v490",48,19,0.4,{"$nulls":3},"A有","32630A","ACTG2","chr2:74128433","c.-6C>T(exon2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,0.57,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"非编码区",14200,"0.4118=21/51",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v491",153,152,0.99,{"$nulls":3},"A有","32630A","ACTG2","chr2:74129474","c.127-13T>C(exon3)","非编码区","rs1726025",0.56,0.58,0.6,0.56,0.52,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"非编码区",16202,"0.9944=178/179",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v492",136,132,0.97,{"$nulls":3},"A有","32630A","ACTG2","chr2:74135797","c.256-3T>C(exon4)","非编码区","rs702461",0.58,0.59,0.61,0.57,0.52,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"非编码区",16202,"0.9758=161/165",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v493",166,163,0.98,{"$nulls":3},"A有","32630A","ACTG2","chr2:74135898","c.354A>G(exon4)","p.E118E","rs756128",0.57,0.59,0.61,0.57,0.52,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"同义",13203,"0.9845=190/193",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v494",81,81,1,{"$nulls":3},"A有","32630A","ACTG2","chr2:74140789","c.613+16T>C(exon6)","非编码区","rs891698",0.6,0.6,0.62,0.57,0.53,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内脏肌病","AD",155310,5,1,5,1,"ACTG2",1,140,"非编码区",16203,"1.0000=94/94",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v495",5,5,1,{"$nulls":3},"A有","32630A","ACTL10","chr20:32255233","c.-71T>C(exon1)","非编码区","rs3746459",0.71,0.8,0.79,0.81,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL10",1,18,"非编码区",14200,"1.0000=5/5",null,170487,"20q11.22","NM_001024675",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v496",173,173,1,{"$nulls":3},"A有","32630A","ACTL6A","chr3:179298999","c.891C>T(exon11)","p.D297D","rs1132429",null,0.91,0.93,0.89,0.91,0.89,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ACTL6A",1,280,"同义",13303,"1.0000=199/199",null,86,"3q26.33","NM_178042",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v497",13,13,1,{"$nulls":3},"A有","32630A","ACTL6B","chr7:100240771","c.*98T>A(exon14)","非编码区","rs1052897",0.89,0.91,0.9,0.91,0.89,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL6B",1,70,"非编码区",14200,"1.0000=13/13",null,51412,"7q22","NM_016188",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v498",27,27,1,{"$nulls":3},"A有","32630A","ACTL7A","chr9:111625913","c.*3A>G(exon1)","非编码区","rs4978370",0.88,0.84,0.82,0.86,0.85,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL7A",1,93,"非编码区",14200,"1.0000=32/32",null,10881,"9q31","NM_006687",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v499",57,57,1,{"$nulls":3},"A有","32630A","ACTL8","chr1:18149566","c.63C>A(exon2)","p.G21G","rs2296035",0.48,0.68,0.7,0.67,0.65,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL8",1,55,"同义",13203,"1.0000=70/70",null,81569,"1p36.2-p35","NM_030812",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v500",28,16,0.57,{"$nulls":3},"A有","32630A","ACTL9","chr19:8808373","c.679C>A(exon1)","p.H227N","rs4804079",0.6,0.68,0.66,0.7,0.68,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL9",1,29,"非同义",12220,"0.5862=17/29",null,284382,"19p13.2","NM_178525",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v501",41,41,1,{"$nulls":3},"A有","32630A","ACTL9","chr19:8808900","c.152T>C(exon1)","p.V51A","rs10410943",null,0.85,0.86,0.84,0.87,0.86,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"ACTL9",1,29,"非同义",12320,"1.0000=50/50",null,284382,"19p13.2","NM_178525",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v502",32,32,1,{"$nulls":3},"A有","32630A","ACTL9","chr19:8808942","c.110T>C(exon1)","p.F37S","rs2340550",0.79,0.85,0.86,0.84,0.87,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL9",1,29,"非同义",12220,"1.0000=43/43",null,284382,"19p13.2","NM_178525",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v503",53,53,1,{"$nulls":3},"A有","32630A","ACTN1","chr14:69376658","c.515+14T>G(exon5)","非编码区","rs743128",0.88,1,1,0.99,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",16203,"1.0000=60/60",null,87,"14q24|14q22-q24","NM_001130004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v504",25,25,1,{"$nulls":3},"A有","32630A","ACTN1","chr14:69376775","c.428-16A>G(exon5)","非编码区","rs872810",0.32,0.63,0.67,0.6,0.64,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",16202,"1.0000=26/26",null,87,"14q24|14q22-q24","NM_001130004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v505",165,165,1,{"$nulls":3},"A有","32630A","ACTN1","chr14:69378863","c.427+10T>C(exon4)","非编码区","rs2070280",0.32,0.63,0.66,0.61,0.64,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",16203,"1.0000=181/181",null,87,"14q24|14q22-q24","NM_001130004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v506",79,79,1,{"$nulls":3},"A有","32630A","ACTN1","chr14:69392264","c.220+11A>C(exon2)","非编码区","rs4899272",0.8,0.98,0.99,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",16203,"0.9888=88/89",null,87,"14q24|14q22-q24","NM_001130004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v507",12,12,1,{"$nulls":3},"A有","32630A","ACTN1","chr14:69445858-69445859","c.-86(exon1)_c.-85(exon1)insAGCCC","非编码区","rs61251565",0.44,0.81,0.79,0.84,0.16,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板型出血性疾病","AD",615193,5,1,5,1,"ACTN1",1,93,"非编码区",2420,"1.0000=13/13",null,87,"14q24|14q22-q24","NM_001130004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v508",168,168,1,{"$nulls":3},"A有","32630A","ACTN2","chr1:236882303","c.351T>C(exon3)","p.I117I","rs1341864",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;24938736","扩张型心肌病1AA型",null,612158,5,1,4,1,"ACTN2",1,120,"同义",13203,"1.0000=188/188",null,88,"1q42-q43","NM_001103",null,"rs1341864|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v509",175,175,1,{"$nulls":3},"A有","32630A","ACTN2","chr1:236883421","c.378C>T(exon4)","p.N126N","rs1341863",0.92,0.98,0.99,0.97,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;24938736","扩张型心肌病1AA型",null,612158,5,1,4,1,"ACTN2",1,120,"同义",13203,"1.0000=197/197",null,88,"1q42-q43","NM_001103",null,"rs1341863|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v510",50,50,1,{"$nulls":3},"A有","32630A","ACTN2","chr1:236902594","c.877-8C>G(exon10)","非编码区","rs2288601",0.77,0.77,0.77,0.77,0.78,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;19335888;24938736","扩张型心肌病1AA型",null,612158,5,1,4,1,"ACTN2",1,120,"非编码区",16201,"1.0000=51/51",null,88,"1q42-q43","NM_001103",null,"rs2288601|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v511",25,12,0.48,{"$nulls":3},"A有","32630A","ACTN2","chr1:236926030","c.*111A>G(exon21)","非编码区","rs1051251",0.35,0.37,0.35,0.38,0.47,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"扩张型心肌病1AA型",null,612158,5,2,4,1,"ACTN2",1,120,"非编码区",14200,"0.4643=13/28",null,88,"1q42-q43","NM_001103",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v512",97,53,0.55,{"$nulls":3},"A有","32630A","ACTN4","chr19:39196745","c.546C>T(exon5)","p.N182N","rs3745859",0.34,0.39,0.41,0.37,0.4,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"局灶性节段性肾小球硬化症1型",null,603278,5,2,1,1,"ACTN4",1,77,"同义",13203,"0.5524=58/105",null,81,"19q13","NM_004924",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v513",32,12,0.38,{"$nulls":3},"A有","32630A","ACTR10","chr14:58666882","c.-54A>G(exon1)","非编码区","rs61975916",0.38,0.38,0.41,0.33,0.36,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACTR10",1,260,"非编码区",14200,"0.4211=16/38",null,55860,"14q23.1","NM_018477",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v514",228,120,0.53,{"$nulls":3},"A有","32630A","ACTR10","chr14:58669661-58669661","c.150+16(exon2)delT","非编码区","rs75291796",0.36,0.37,0.41,0.33,0.047,0.36,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ACTR10",1,260,"非编码区",2500,"0.5147=140/272",null,55860,"14q23.1","NM_018477",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v515",10,4,0.4,{"$nulls":3},"A有","32630A","ACTR1A","chr10:104240438","c.*182T>C(exon11)","非编码区","rs13287",0.32,0.24,0.21,0.26,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1A",1,100,"非编码区",14200,"0.3636=4/11",null,10121,"10q24.32","NM_005736",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v516",24,10,0.42,{"$nulls":3},"A有","32630A","ACTR1A","chr10:104240498","c.*122T>C(exon11)","非编码区","rs12162",0.32,0.24,0.21,0.26,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1A",1,100,"非编码区",14200,"0.3929=11/28",null,10121,"10q24.32","NM_005736",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v517",16,10,0.62,{"$nulls":3},"A有","32630A","ACTR1A","chr10:104244139","c.441-6C>A(exon6)","非编码区","rs2296582",0.27,0.24,0.21,0.26,null,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1A",1,100,"非编码区",16202,"0.6111=11/18",null,10121,"10q24.32","NM_005736",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v518",53,22,0.42,{"$nulls":3},"A有","32630A","ACTR1B","chr2:98273290","c.*31G>A(exon11)","非编码区","rs11547232",0.3,0.31,0.26,0.35,0.32,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,81,"非编码区",14200,"0.4068=24/59",null,10120,"2q11.1-q11.2","NM_005735",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v519",82,34,0.41,{"$nulls":3},"A有","32630A","ACTR1B","chr2:98273661","c.988-6T>C(exon10)","非编码区","rs2290124",0.53,0.38,0.33,0.43,0.4,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,81,"非编码区",16202,"0.4200=42/100",null,10120,"2q11.1-q11.2","NM_005735",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v520",66,28,0.42,{"$nulls":3},"A有","32630A","ACTR1B","chr2:98274527","c.804C>G(exon8)","p.V268V","rs1042705",0.53,0.38,0.33,0.43,0.4,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,81,"同义",13203,"0.4058=28/69",null,10120,"2q11.1-q11.2","NM_005735",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v521",111,63,0.57,{"$nulls":3},"A有","32630A","ACTR2","chr2:65481008","c.600+10A>C(exon6)","非编码区","rs268871",0.79,0.81,0.8,0.82,0.82,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",16203,"0.5891=76/129",null,10097,"2p14","NM_001005386",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v522",159,78,0.49,{"$nulls":3},"A有","32630A","ACTR2","chr2:65488538","c.896+12G>A(exon8)","非编码区","rs268862",0.81,0.81,0.8,0.82,0.82,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",16203,"0.4949=97/196",null,10097,"2p14","NM_001005386",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v523",135,66,0.49,{"$nulls":3},"A有","32630A","ACTR2","chr2:65495887","c.*19G>A(exon10)","非编码区","rs268875",0.81,0.73,0.72,0.73,0.74,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACTR2",1,250,"非编码区",14200,"0.5168=77/149",null,10097,"2p14","NM_001005386",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v546",209,209,1,{"$nulls":3},"A有","32630A","ACVR1C","chr2:158395079","c.1356+6G>C(exon8)","非编码区","rs7576514",0.84,0.92,0.95,0.9,0.93,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACVR1C",1,180,"非编码区",16202,"1.0000=233/233",null,130399,"2q24.1","NM_145259",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v787",13,5,0.38,{"$nulls":3},"A有","32630A","ADA","chr20:43280227","c.22G>A(exon1)","p.D8N","rs73598374",0.051,0.062,0.057,0.068,0.028,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8031011;16221767;21734253;21865054;24682206","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",1,92,"非同义",11200,"0.3571=5/14",null,100,"20q13.12","NM_000022","ASP8ASN|\"Deep_sleep_duration_and_intensity_association_with\"|16221767","ASP8ASN|Pathogenic|NA|OMIM:608958.0021|no assertion criteria provided|PubMed:8031011","ASP8ASN|none|608958.0021.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v557",12,8,0.67,{"$nulls":3},"A有","32630A","ADAD2","chr16:84224805","c.-32G>C(exon1)","非编码区","rs8044351",0.66,0.62,0.59,0.65,0.56,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"非编码区",14200,"0.5714=8/14",null,161931,"16q24.1","NM_139174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v558",16,9,0.56,{"$nulls":3},"A有","32630A","ADAD2","chr16:84224967","c.131G>A(exon1)","p.G44E","rs8044695",0.69,0.71,0.67,0.74,0.7,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"非同义",12220,"0.5882=10/17",null,161931,"16q24.1","NM_139174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v559",27,13,0.48,{"$nulls":3},"A有","32630A","ADAD2","chr16:84229436","c.1314G>A(exon8)","p.S438S","rs62049905",0.31,0.27,0.22,0.33,0.26,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"同义",13203,"0.4643=13/28",null,161931,"16q24.1","NM_139174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v560",25,25,1,{"$nulls":3},"A有","32630A","ADAD2","chr16:84229559","c.1437T>C(exon8)","p.S479S","rs2303238",0.81,0.71,0.69,0.73,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"同义",13203,"1.0000=27/27",null,161931,"16q24.1","NM_139174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v561",28,17,0.61,{"$nulls":3},"A有","32630A","ADAD2","chr16:84229580","c.1458C>T(exon8)","p.A486A","rs2303239",0.29,0.3,0.25,0.34,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"同义",13203,"0.6129=19/31",null,161931,"16q24.1","NM_139174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v562",27,16,0.59,{"$nulls":3},"A有","32630A","ADAD2","chr16:84230376","c.1893+3T>C(exon10)","非编码区","rs2303242",0.58,0.46,0.49,0.43,0.46,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,44,"非编码区",16201,"0.6452=20/31",null,161931,"16q24.1","NM_139174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v563",3,2,0.67,{"$nulls":3},"A有","32630A","ADAL","chr15:43622916","c.-530C>T(exon1)","非编码区","rs3742971",0.4,0.5,0.48,0.53,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAL",1,190,"非编码区",14200,"0.6667=2/3",null,161823,"15q15.3","NM_001159280",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v564",194,108,0.56,{"$nulls":3},"A有","32630A","ADAL","chr15:43632549","c.342T>C(exon7)","p.T114T","rs2278857",0.54,0.5,0.48,0.53,0.48,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAL",1,190,"同义",13202,"0.5670=127/224",null,161823,"15q15.3","NM_001159280",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v565",8,4,0.5,{"$nulls":3},"A有","32630A","ADAL","chr15:43644310","c.*167A>G(exon12)","非编码区","rs79531962",0.031,0.13,0.13,0.13,0.11,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ADAL",1,190,"非编码区",14100,"0.5556=5/9",null,161823,"15q15.3","NM_001159280",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v566",35,35,1,{"$nulls":3},"A有","32630A","ADAM11","chr17:42851729","c.1059C>T(exon12)","p.H353H","rs35936481",0.65,0.78,0.77,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=36/36",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v567",26,26,1,{"$nulls":3},"A有","32630A","ADAM11","chr17:42852604","c.1245G>T(exon15)","p.S415S","rs1558083",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=33/33",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v568",26,26,1,{"$nulls":3},"A有","32630A","ADAM11","chr17:42852610","c.1251T>C(exon15)","p.C417C","rs1558084",0.9,0.87,0.87,0.87,0.88,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=36/36",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v569",48,48,1,{"$nulls":3},"A有","32630A","ADAM11","chr17:42854610","c.1758T>C(exon21)","p.S586S","rs8075210",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=59/59",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v570",39,39,1,{"$nulls":3},"A有","32630A","ADAM11","chr17:42855248","c.2070+17T>C(exon23)","非编码区","rs2070603",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"非编码区",16203,"1.0000=44/44",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v571",75,75,1,{"$nulls":3},"A有","32630A","ADAM11","chr17:42855554","c.2220T>C(exon25)","p.I740I","rs2070605",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM11",1,72,"同义",13203,"1.0000=85/85",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v572",87,87,1,{"$nulls":3},"A有","32630A","ADAM12","chr10:127724778","c.2475T>C(exon21)","p.A825A","rs1044122",0.27,0.45,0.47,0.44,0.38,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM12",1,130,"同义",13203,"1.0000=98/98",null,8038,"10q26.3","NM_003474",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v573",96,56,0.58,{"$nulls":3},"A有","32630A","ADAM12","chr10:127737918","c.1830A>T(exon16)","p.G610G","rs184387932",0.0004,0.0048,0.0095,0,0.0057,0.0065,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ADAM12",1,130,"同义",13103,"0.6058=63/104",null,8038,"10q26.3","NM_003474",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v574",158,158,1,{"$nulls":3},"A有","32630A","ADAM12","chr10:127786969","c.1005+16T>C(exon10)","非编码区","rs2290842",0.62,0.6,0.61,0.59,null,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM12",1,130,"非编码区",16203,"1.0000=178/178",null,8038,"10q26.3","NM_003474",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v575",134,72,0.54,{"$nulls":3},"A有","32630A","ADAM12","chr10:128019025","c.142G>C(exon2)","p.G48R","rs3740199",null,0.47,0.44,0.5,0.5,0.5,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","19268722;16385451;23491141",{"$nulls":3},3,null,4,0,"ADAM12",1,130,"非同义",12320,"0.5133=77/150",null,8038,"10q26.3","NM_003474","GLY48ARG|\"Osteoarthritis_in_males_association_with\"|19268722",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v576",26,26,1,{"$nulls":3},"A有","32630A","ADAM15","chr1:155026942","c.572A>C(exon6)","p.K191T","rs6427128",0.9,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM15",1,66,"非同义",12220,"1.0000=30/30",null,8751,"1q21.3","NM_207197",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v577",32,32,1,{"$nulls":3},"A有","32630A","ADAM15","chr1:155033317","c.2277+9T>C(exon19)","非编码区","rs11264304",0.7,0.94,0.94,0.94,0.91,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM15",1,66,"非编码区",16203,"1.0000=33/33",null,8751,"1q21.3","NM_207197",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v578",220,109,0.5,{"$nulls":3},"A有","32630A","ADAM18","chr8:39463823","c.133-3T>C(exon3)","非编码区","rs13268577",0.27,0.15,0.14,0.16,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM18",1,260,"非编码区",16202,"0.4941=125/253",null,8749,"8p11.22","NM_014237",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v579",347,150,0.43,{"$nulls":3},"A有","32630A","ADAM18","chr8:39496029","c.873T>C(exon10)","p.T291T","rs12708194",0.59,0.26,0.24,0.29,0.27,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM18",1,260,"同义",13203,"0.4354=172/395",null,8749,"8p11.22","NM_014237",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v580",212,90,0.42,{"$nulls":3},"A有","32630A","ADAM18","chr8:39521419","c.1326+10T>C(exon13)","非编码区","rs6988389",0.7,0.38,0.36,0.4,0.4,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM18",1,260,"非编码区",16203,"0.4058=112/276",null,8749,"8p11.22","NM_014237",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v601",233,101,0.43,{"$nulls":3},"A有","32630A","ADAM2","chr8:39682319","c.267+19C>T(exon4)","非编码区","rs202055788",0.0006,0.0072,0.014,0,0.0052,0.0039,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,1,0,"ADAM2",1,240,"非编码区",16103,"0.4302=114/265",null,2515,"8p11.2","NM_001464",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v581",76,38,0.5,{"$nulls":3},"A有","32630A","ADAM20","chr14:70989762","c.1863A>G(exon2)","p.V621V","rs9323540",0.058,0.026,0.029,0.024,0.024,0.023,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM20",1,140,"同义",13203,"0.5172=45/87",null,8748,"14q24.1","NM_003814",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v582",97,54,0.56,{"$nulls":3},"A有","32630A","ADAM20","chr14:70990398","c.1227C>T(exon2)","p.C409C","rs10162314",0.058,0.026,0.029,0.024,0.024,0.023,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM20",1,140,"同义",13203,"0.5405=60/111",null,8748,"14q24.1","NM_003814",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v583",73,21,0.29,{"$nulls":3},"A有","32630A","ADAM21","chr14:70924237","c.21C>A(exon2)","p.L7L","rs3751520",0.37,0.35,0.36,0.34,0.34,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAM21",1,100,"同义",13203,"0.2824=24/85",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v584",82,26,0.32,{"$nulls":3},"A有","32630A","ADAM21","chr14:70924249","c.33A>G(exon2)","p.R11R","rs3751521",0.65,0.89,0.9,0.88,0.88,0.87,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAM21",1,100,"同义",13203,"0.3158=30/95",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v585",79,24,0.3,{"$nulls":3},"A有","32630A","ADAM21","chr14:70924450","c.234C>T(exon2)","p.V78V","rs58247196",{"$nulls":4},0.29,0.36,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,100,"同义",13303,"0.2632=25/95",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v586",79,79,1,{"$nulls":3},"A有","32630A","ADAM21","chr14:70924462","c.246A>G(exon2)","p.L82L","rs3751523",{"$nulls":4},0.53,0.54,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,100,"同义",13303,"1.0000=97/97",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v587",79,79,1,{"$nulls":3},"A有","32630A","ADAM21","chr14:70924501","c.285C>G(exon2)","p.D95E","rs8010994",{"$nulls":4},0.74,0.61,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"ADAM21",1,100,"非同义",12320,"1.0000=95/95",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v588",76,45,0.59,{"$nulls":3},"A有","32630A","ADAM21","chr14:70924507","c.291A>C(exon2)","p.A97A","rs3751524",{"$nulls":4},0.07,0.067,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,100,"同义",13303,"0.5978=55/92",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v589",81,42,0.52,{"$nulls":3},"A有","32630A","ADAM21","chr14:70924852","c.636A>C(exon2)","p.L212L","rs3829455",0.44,0.36,0.36,0.35,0.37,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAM21",1,100,"同义",13203,"0.5057=44/87",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v590",54,54,1,{"$nulls":3},"A有","32630A","ADAM21","chr14:70925257","c.1041A>G(exon2)","p.L347L","rs12436346",{"$nulls":4},1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ADAM21",1,100,"同义",13303,"1.0000=61/61",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v591",64,20,0.31,{"$nulls":3},"A有","32630A","ADAM21","chr14:70925818","c.1602T>C(exon2)","p.N534N","rs2022624",0.74,0.9,0.9,0.89,0.88,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ADAM21",1,100,"同义",13203,"0.2817=20/71",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v592",31,31,1,{"$nulls":3},"A有","32630A","ADAM22","chr7:87564497","c.242C>G(exon2)","p.P81R","rs2279542",0.63,0.52,0.57,0.47,0.48,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM22",1,230,"非同义",12220,"1.0000=33/33",null,53616,"7q21","NM_021723",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v593",114,114,1,{"$nulls":3},"A有","32630A","ADAM22","chr7:87774727","c.1393-3T>C(exon17)","非编码区","rs3761806",0.12,0.23,0.24,0.23,0.21,0.21,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM22",1,230,"非编码区",16202,"1.0000=135/135",null,53616,"7q21","NM_021723",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v594",61,61,1,{"$nulls":3},"A有","32630A","ADAM28","chr8:24193264","c.*54T>C(exon14)","非编码区","rs4872222",0.99,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM28",1,220,"非编码区",14200,"1.0000=67/67",null,10863,"8p21.2","NM_021777",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v595",194,194,1,{"$nulls":3},"A有","32630A","ADAM28","chr8:24211278","c.2245-5C>T(exon22)","非编码区","rs7815643",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM28",1,220,"非编码区",16202,"1.0000=220/220",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v596",190,190,1,{"$nulls":3},"A有","32630A","ADAM28","chr8:24211331","c.2293G>A(exon22)","p.V765M","rs7814768",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM28",1,220,"非同义",12220,"1.0000=216/216",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v597",114,114,1,{"$nulls":3},"A有","32630A","ADAM28","chr8:24211884-24211885","c.2308-13(exon23)_c.2308-12(exon23)insTGTC","非编码区","rs10694022",0.97,1,1,1,0.8,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,6,0,"ADAM28",1,220,"非编码区",2500,"1.0000=141/141",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v598",129,129,1,{"$nulls":3},"A有","32630A","ADAM28","chr8:24211994-24211997","c.*77(exon23)_c.*80(exon23)delCTAT","非编码区","rs10610134",null,1,1,1,0.14,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"ADAM28",1,220,"非编码区",2430,"1.0000=152/152",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v599",109,56,0.51,{"$nulls":3},"A有","32630A","ADAM28","chr8:24212040","c.*123T>C(exon23)","非编码区","rs1058914",0.22,0.5,0.5,0.5,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAM28",1,220,"非编码区",14200,"0.4511=60/133",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v600",89,40,0.45,{"$nulls":3},"A有","32630A","ADAM29","chr4:175898555","c.1879C>T(exon5)","p.P627S","rs78280171",0.049,0.23,0.25,0.22,0.24,0.24,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"ADAM29",1,160,"非同义",12110,"0.4362=41/94",null,11086,"4q34","NM_014269",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v602",43,18,0.42,{"$nulls":3},"A有","32630A","ADAM32","chr8:38965271","c.-24C>T(exon1)","非编码区","rs59118660",0.44,0.69,0.71,0.66,0.68,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM32",1,280,"非编码区",14200,"0.3725=19/51",null,203102,"8p11.22","NM_145004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v603",136,136,1,{"$nulls":3},"A有","32630A","ADAM32","chr8:39080632","c.1400C>G(exon14)","p.T467S","rs7845771",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM32",1,280,"非同义",12230,"1.0000=149/149",null,203102,"8p11.22","NM_145004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v604",133,62,0.47,{"$nulls":3},"A有","32630A","ADAM32","chr8:39133389","c.2279+4A>G(exon22)","非编码区",{"$nulls":5},0.0027,null,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,3,0,"ADAM32",1,280,"非编码区",16401,"0.4839=75/155",null,203102,"8p11.22","NM_145004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v605",59,21,0.36,{"$nulls":3},"A有","32630A","ADAM33","chr20:3650205","c.2320C>T(exon20)","p.P774S","rs2280090",0.14,0.11,0.11,0.11,0.075,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20003279;16519819;16784537;17878941;18778489",{"$nulls":3},5,null,7,0,"ADAM33",1,48,"非同义",12210,"0.3385=22/65",null,80332,"20p13","NM_025220","rs2280090|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v606",68,26,0.38,{"$nulls":3},"A有","32630A","ADAM33","chr20:3650234","c.2291T>C(exon20)","p.M764T","rs2280091",0.13,0.099,0.11,0.087,0.06,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20003279;16024651;16784537;17878941;18778489",{"$nulls":3},5,null,7,0,"ADAM33",1,48,"非同义",12210,"0.3684=28/76",null,80332,"20p13","NM_025220","rs2280091|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279;MET764THR|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v608",37,19,0.51,{"$nulls":3},"A有","32630A","ADAM33","chr20:3652298","c.1835T>A(exon16)","p.L612H","rs41453444",0.0058,0.029,0.033,0.024,0.008,0.042,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,7,0,"ADAM33",1,48,"非同义",12110,"0.5122=21/41",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v609",18,11,0.61,{"$nulls":3},"A有","32630A","ADAM33","chr20:3654433","c.864G>A(exon9)","p.G288G","rs2271511",0.28,0.2,0.22,0.17,0.13,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21320344,{"$nulls":3},5,null,7,0,"ADAM33",1,48,"同义",13203,"0.6316=12/19",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v610",36,36,1,{"$nulls":3},"A有","32630A","ADAM33","chr20:3657803","c.178-13T>C(exon3)","非编码区","rs568251",0.9,0.96,0.97,0.96,null,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM33",1,48,"非编码区",16202,"1.0000=50/50",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v611",36,36,1,{"$nulls":3},"A有","32630A","ADAM33","chr20:3657804","c.178-14A>T(exon3)","非编码区","rs597165",0.9,0.96,0.97,0.96,null,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM33",1,48,"非编码区",16202,"1.0000=50/50",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v612",327,162,0.5,{"$nulls":3},"A有","32630A","ADAM7","chr8:24339679","c.730G>A(exon9)","p.V244M","rs13255694",0.26,0.17,0.14,0.19,0.2,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM7",1,240,"非同义",12210,"0.5052=196/388",null,8756,"8p21.2","NM_003817",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v613",277,145,0.52,{"$nulls":3},"A有","32630A","ADAM7","chr8:24356818","c.1912A>C(exon17)","p.N638H","rs13259668",0.33,0.18,0.15,0.21,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19435634,{"$nulls":3},5,null,3,0,"ADAM7",1,240,"非同义",12210,"0.5126=163/318",null,8756,"8p21.2","NM_003817","ASN638HIS|\"Schizophrenia_association_with\"|19435634",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v614",216,116,0.54,{"$nulls":3},"A有","32630A","ADAM7","chr8:24359068","c.2187G>A(exon20)","p.L729L","rs13277171",0.26,0.18,0.15,0.2,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM7",1,240,"同义",13203,"0.5391=138/256",null,8756,"8p21.2","NM_003817",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v615",40,40,1,{"$nulls":3},"A有","32630A","ADAM8","chr10:135076523","c.*137G>T(exon23)","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%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非编码区",14200,"1.0000=44/44",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v616",68,68,1,{"$nulls":3},"A有","32630A","ADAM8","chr10:135076596","c.*64A>G(exon23)","非编码区","rs2230576",0.74,0.93,0.91,0.94,0.9,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非编码区",14200,"1.0000=72/72",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v617",75,73,0.97,{"$nulls":3},"A有","32630A","ADAM8","chr10:135082346","c.1969T>C(exon19)","p.F657L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,11,0,"ADAM8",1,48,"非同义",12220,"0.9775=87/89",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v618",24,24,1,{"$nulls":3},"A有","32630A","ADAM8","chr10:135084232-135084233","c.1634+7(exon15)_c.1634+8(exon15)insTCT","非编码区","rs5789159",null,0.95,0.95,0.95,0.05,0.95,"纯合","未知","内含子突变",{"$nulls":4},4,null,11,0,"ADAM8",1,48,"非编码区",2500,"1.0000=25/25",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v619",26,26,1,{"$nulls":3},"A有","32630A","ADAM8","chr10:135084322","c.1565-13T>C(exon15)","非编码区","rs3008321",0.9,0.95,0.96,0.95,0.83,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非编码区",16202,"1.0000=31/31",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v620",35,35,1,{"$nulls":3},"A有","32630A","ADAM8","chr10:135085321","c.1095G>A(exon11)","p.A365A","rs1131720",0.85,0.94,0.93,0.94,0.73,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"同义",13203,"1.0000=38/38",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v621",24,24,1,{"$nulls":3},"A有","32630A","ADAM8","chr10:135085426","c.990T>C(exon11)","p.C330C","rs1131719",0.92,0.95,0.96,0.95,0.81,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"同义",13203,"1.0000=26/26",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v622",34,34,1,{"$nulls":3},"A有","32630A","ADAM8","chr10:135085754","c.900C>T(exon10)","p.T300T","rs1131718",0.88,0.95,0.96,0.95,0.83,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"同义",13203,"1.0000=40/40",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v623",59,59,1,{"$nulls":3},"A有","32630A","ADAM8","chr10:135086380","c.637-10G>A(exon8)","非编码区","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,48,"非编码区",16202,"1.0000=66/66",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v654",87,87,1,{"$nulls":3},"A有","32630A","ADAMTS16","chr5:5200281","c.1350C>T(exon9)","p.C450C","rs6555335",0.73,0.83,0.82,0.84,0.83,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ADAMTS16",1,110,"同义",13203,"1.0000=102/102",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v656",15,8,0.53,{"$nulls":3},"A有","32630A","ADAMTS17","chr15:100514417","c.*190G>A(exon22)","非编码区","rs2727199",0.52,0.51,0.53,0.49,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",14200,"0.5263=10/19",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v657",15,8,0.53,{"$nulls":3},"A有","32630A","ADAMTS17","chr15:100514418","c.*189G>C(exon22)","非编码区","rs2581343",0.52,0.51,0.53,0.49,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",14200,"0.5263=10/19",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v658",36,21,0.58,{"$nulls":3},"A有","32630A","ADAMTS17","chr15:100514494","c.*113A>G(exon22)","非编码区","rs2581341",0.59,0.51,0.53,0.49,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",14200,"0.5750=23/40",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v662",68,33,0.49,{"$nulls":3},"A有","32630A","ADAMTS17","chr15:100589056","c.2591+6A>G(exon18)","非编码区","rs8028251",0.37,0.49,0.5,0.48,0.5,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",16202,"0.4625=37/80",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v663",92,45,0.49,{"$nulls":3},"A有","32630A","ADAMTS17","chr15:100594271","c.2138-12C>T(exon16)","非编码区","rs28529328",0.31,0.43,0.44,0.42,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",16202,"0.5135=57/111",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v668",83,83,1,{"$nulls":3},"A有","32630A","ADAMTS17","chr15:100801698","c.1017C>T(exon6)","p.A339A","rs4965613",0.69,0.61,0.59,0.62,0.63,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,1,16,1,"ADAMTS17",1,92,"同义",13203,"1.0000=97/97",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v669",69,41,0.59,{"$nulls":3},"A有","32630A","ADAMTS17","chr15:100821426","c.789+8C>T(exon4)","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",1,92,"非编码区",16203,"0.5679=46/81",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v670",76,43,0.57,{"$nulls":3},"A有","32630A","ADAMTS17","chr15:100821467","c.756C>T(exon4)","p.A252A","rs7496640",null,0.49,0.5,0.49,0.52,0.54,"杂合","未知","预测范围之外的同义突变",null,"Weill-Marchesani样综合症","AR",613195,4,3,16,1,"ADAMTS17",1,92,"同义",13303,"0.5161=48/93",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v673",33,18,0.55,{"$nulls":3},"A有","32630A","ADAMTS18","chr16:77317756","c.*97C>T(exon23)","非编码区","rs889707",0.17,0.18,0.22,0.14,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非编码区",14200,"0.5135=19/37",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v674",97,39,0.4,{"$nulls":3},"A有","32630A","ADAMTS18","chr16:77323235","c.3476G>C(exon22)","p.S1159T","rs3743749",0.18,0.2,0.24,0.16,0.18,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"0.3883=40/103",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v675",113,61,0.54,{"$nulls":3},"A有","32630A","ADAMTS18","chr16:77353973","c.2305C>A(exon16)","p.L769I","rs9930984",0.63,0.88,0.86,0.89,0.88,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"0.4924=65/132",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v676",127,58,0.46,{"$nulls":3},"A有","32630A","ADAMTS18","chr16:77359919","c.1876T>A(exon13)","p.L626I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"0.4315=63/146",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v677",139,66,0.47,{"$nulls":3},"A有","32630A","ADAMTS18","chr16:77389956","c.1341T>C(exon9)","p.D447D","rs8059275",0.88,0.88,0.87,0.9,0.92,0.91,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"同义",13203,"0.4568=74/162",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v678",70,36,0.51,{"$nulls":3},"A有","32630A","ADAMTS18","chr16:77401545","c.571T>C(exon4)","p.Y191H","rs11643211",0.37,0.56,0.57,0.55,0.58,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",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",1,130,"非同义",12220,"0.5476=46/84",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v679",296,296,1,{"$nulls":3},"A有","32630A","ADAMTS19","chr5:128863471","c.1099A>G(exon5)","p.S367G","rs6595908",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS19",1,180,"非同义",12220,"1.0000=349/349",null,171019,"5q23.3","NM_133638",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v680",63,63,1,{"$nulls":3},"A有","32630A","ADAMTS19","chr5:129072943","c.*32G>T(exon23)","非编码区","rs1465686",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS19",1,180,"非编码区",14200,"1.0000=72/72",null,171019,"5q23.3","NM_133638",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v689",2,2,1,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178540656","c.*212A>C(exon22)","非编码区","rs10479525",0.52,0.62,0.61,0.63,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,11,1,"ADAMTS2",0.98,59,"非编码区",14200,"1.0000=2/2",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v690",94,51,0.54,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178540975","c.3529C>T(exon22)","p.P1177S","rs1054480",0.26,0.27,0.26,0.28,0.29,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23491141,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非同义",12220,"0.5392=55/102",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v691",25,9,0.36,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178549791","c.2959-17C>T(exon20)","非编码区","rs2303641",0.25,0.29,0.3,0.28,0.31,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非编码区",16202,"0.3600=9/25",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v692",77,29,0.38,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178567054","c.1630-18T>C(exon11)","非编码区","rs2303638",0.24,0.3,0.3,0.29,0.31,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非编码区",16202,"0.3368=32/95",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v693",35,14,0.4,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178581797","c.1238+18G>A(exon7)","非编码区","rs2278222",0.23,0.29,0.3,0.28,0.31,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非编码区",16203,"0.3902=16/41",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v694",36,16,0.44,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178581859","c.1194C>T(exon7)","p.D398D","rs2278221",0.23,0.28,0.29,0.27,0.3,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"同义",13203,"0.4634=19/41",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v695",29,29,1,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178634619","c.786G>A(exon4)","p.A262A","rs423552",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,11,1,"ADAMTS2",0.98,59,"同义",13203,"1.0000=32/32",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v696",39,39,1,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178634672","c.733G>A(exon4)","p.V245I","rs398829",0.43,0.63,0.68,0.59,0.64,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,11,1,"ADAMTS2",0.98,59,"非同义",12220,"1.0000=44/44",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v697",41,20,0.49,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178634683","c.722G>A(exon4)","p.R241H","rs11750821",0.072,0.082,0.086,0.078,0.1,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非同义",12220,"0.4894=23/47",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v698",9,6,0.67,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178770759","c.534+9G>C(exon2)","非编码区","rs2271213",0.4,0.52,0.49,0.55,0.49,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,11,1,"ADAMTS2",0.98,59,"非编码区",16203,"0.6667=6/9",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v699",37,18,0.49,{"$nulls":3},"A有","32630A","ADAMTS2","chr5:178770981","c.321T>C(exon2)","p.S107S","rs2271212",{"$nulls":4},0.47,0.49,"杂合","未知","预测范围之外的同义突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,4,3,11,1,"ADAMTS2",0.98,59,"同义",13303,"0.4500=18/40",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v687",92,92,1,{"$nulls":3},"A有","32630A","ADAMTS20","chr12:43819298","c.4284+19C>T(exon28)","非编码区","rs10785430",0.66,0.88,0.89,0.86,0.86,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS20",1,180,"非编码区",16203,"1.0000=105/105",null,80070,"12q12","NM_025003",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v688",334,334,1,{"$nulls":3},"A有","32630A","ADAMTS20","chr12:43860526","c.1296T>C(exon9)","p.P432P","rs11182088",0.43,0.79,0.82,0.77,0.76,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS20",1,180,"同义",13203,"1.0000=379/379",null,80070,"12q12","NM_025003",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v700",126,66,0.52,{"$nulls":3},"A有","32630A","ADAMTS3","chr4:73414286","c.413G>A(exon3)","p.R138K","rs788908",0.64,0.66,0.65,0.68,0.7,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS3",1,170,"非同义",12220,"0.5385=77/143",null,9508,"4q13.3","NM_014243",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v701",124,67,0.54,{"$nulls":3},"A有","32630A","ADAMTS3","chr4:73433123-73433123","c.70-5(exon2)delT","非编码区","rs33925079",0.42,0.45,0.4,0.51,0.075,0.45,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ADAMTS3",1,170,"非编码区",2500,"0.5407=73/135",null,9508,"4q13.3","NM_014243",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v702",78,78,1,{"$nulls":3},"A有","32630A","ADAMTS4","chr1:161163037","c.1877A>G(exon7)","p.Q626R","rs4233367",0.71,0.88,0.89,0.88,0.91,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19064571,{"$nulls":3},5,null,3,0,"ADAMTS4",1,58,"非同义",12220,"1.0000=83/83",null,9507,"1q21-q23","NM_005099",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v703",60,60,1,{"$nulls":3},"A有","32630A","ADAMTS4","chr1:161163633","c.1549-17G>A(exon6)","非编码区","rs3813622",null,0.89,0.89,0.89,0.91,0.9,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"ADAMTS4",1,58,"非编码区",16302,"1.0000=74/74",null,9507,"1q21-q23","NM_005099",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v704",15,15,1,{"$nulls":3},"A有","32630A","ADAMTS4","chr1:161168004","c.414G>A(exon1)","p.S138S","rs33941127",0.37,0.47,0.46,0.47,0.54,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS4",1,58,"同义",13203,"1.0000=16/16",null,9507,"1q21-q23","NM_005099",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v705",89,52,0.58,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79054773","c.4875C>T(exon23)","p.T1625T","rs78995047",0.068,0.1,0.12,0.087,0.095,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.5591=52/93",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v706",60,60,1,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79054900","c.4748G>C(exon23)","p.G1583A","rs7495616",0.67,0.59,0.6,0.57,0.56,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非同义",12220,"1.0000=66/66",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v707",38,19,0.5,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79054918-79054919","c.4741-12(exon23)_c.4741-11(exon23)insC","非编码区","rs74316827",0.099,0.35,0.33,0.36,0.23,0.37,"杂合","未知","内含子突变",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"非编码区",2500,"0.5349=23/43",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+简单重复结构","非阳性"]
["32630A(747)v708",15,15,1,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79058013","c.4240G>A(exon19)","p.G1414S","rs2929155",0.67,0.58,0.6,0.57,0.51,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非同义",12220,"1.0000=19/19",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v709",16,9,0.56,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79058017","c.4236C>T(exon19)","p.N1412N","rs111789308",0.084,0.1,0.12,0.083,0.099,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.5000=10/20",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v710",28,11,0.39,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79058090","c.4163T>C(exon19)","p.V1388A","rs2929158",{"$nulls":4},0.36,0.3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,21,0,"ADAMTS7",1,51,"非同义",12320,"0.4444=16/36",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v711",21,21,1,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79058572","c.3681A>C(exon19)","p.R1227R","rs1809421",null,0.98,0.99,0.98,0.98,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"同义",13303,"1.0000=23/23",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v712",30,30,1,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79058923","c.3330C>T(exon19)","p.P1110P","rs1809422",0.95,0.92,0.91,0.93,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"1.0000=31/31",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v713",31,8,0.26,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79058968","c.3285A>G(exon19)","p.T1095T","rs112827102",0.11,0.19,0.2,0.17,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.2500=8/32",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v714",30,8,0.27,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79058974","c.3279C>T(exon19)","p.D1093D","rs146662463",0.036,0.06,0.076,0.044,0.049,0.064,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"同义",13103,"0.2581=8/31",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v715",81,25,0.31,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79059703","c.2859+18A>G(exon18)","非编码区","rs1809424",0.25,0.19,0.21,0.17,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非编码区",16203,"0.2967=27/91",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v716",28,14,0.5,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79064170","c.2133G>A(exon15)","p.G711G","rs3784323",0.06,0.11,0.12,0.092,0.093,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13202,"0.4848=16/33",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v717",32,18,0.56,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79065557","c.2011-12T>C(exon14)","非编码区","rs28450923",0.27,0.42,0.42,0.41,0.35,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非编码区",16202,"0.5294=18/34",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v718",29,29,1,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79065562","c.2011-17T>C(exon14)","非编码区","rs8036224",null,1,1,1,1,1,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"非编码区",16302,"1.0000=30/30",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v719",28,8,0.29,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79066581","c.1938C>T(exon13)","p.D646D","rs74405922",0.1,0.36,0.36,0.37,0.35,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.2857=10/35",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v720",49,11,0.22,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79066953","c.1876+13C>T(exon12)","非编码区","rs202215540",{"$nulls":4},0.38,0.38,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,21,0,"ADAMTS7",1,51,"非编码区",16303,"0.2281=13/57",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v721",62,26,0.42,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79067055","c.1787G>A(exon12)","p.R596H","rs2277549",0.25,0.18,0.18,0.17,0.18,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"非同义",12220,"0.3857=27/70",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v722",52,23,0.44,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79068649","c.1587C>T(exon11)","p.P529P","rs59275951",0.077,0.1,0.11,0.092,0.095,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.4211=24/57",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v723",68,37,0.54,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79069121","c.1530T>C(exon10)","p.A510A","rs11854507",0.25,0.13,0.14,0.12,0.13,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.5750=46/80",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v724",27,11,0.41,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79082108","c.1101G>A(exon7)","p.Q367Q","rs2277548",0.1,0.36,0.36,0.35,0.35,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.3939=13/33",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v725",37,20,0.54,{"$nulls":3},"A有","32630A","ADAMTS7","chr15:79089007","c.744A>G(exon4)","p.V248V","rs3743057",0.79,0.88,0.87,0.88,0.89,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"ADAMTS7",1,51,"同义",13203,"0.5405=20/37",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v756",64,64,1,{"$nulls":3},"A有","32630A","ADAMTSL4","chr1:150531050","c.2484G>A(exon15)","p.P828P","rs10749657",0.88,0.98,0.99,0.98,0.98,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",1,63,"同义",13203,"1.0000=76/76",null,54507,"1q21.3","NM_019032",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v757",61,61,1,{"$nulls":3},"A有","32630A","ADAMTSL4","chr1:150531170","c.2604C>T(exon15)","p.H868H","rs10749658",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"单纯性晶状体异位（隐性遗传）","AR",225100,5,1,5,2,"ADAMTSL4",1,63,"同义",13203,"1.0000=69/69",null,54507,"1q21.3","NM_025008",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v757",61,61,1,{"$nulls":3},"A有","32630A","ADAMTSL4","chr1:150531170","c.2604C>T(exon15)","p.H868H","rs10749658",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"瞳孔晶状体异位","AR",225200,5,1,5,2,"ADAMTSL4",1,63,"同义",13203,"1.0000=69/69",null,54507,"1q21.3","NM_025008",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v758",5,2,0.4,{"$nulls":3},"A有","32630A","ADAMTSL5","chr19:1505874","c.*140A>G(exon12)","非编码区","rs197198",0.48,0.46,0.42,0.5,0.38,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTSL5",1,60,"非编码区",14200,"0.4000=2/5",null,339366,"19p13.3","NM_213604",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v759",19,19,1,{"$nulls":3},"A有","32630A","ADAMTSL5","chr19:1510661","c.168T>C(exon3)","p.S56S","rs265291",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTSL5",1,60,"同义",13203,"1.0000=21/21",null,339366,"19p13.3","NM_213604",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v760",10,3,0.3,{"$nulls":3},"A有","32630A","ADAMTSL5","chr19:1511112","c.-170T>C(exon2)","非编码区","rs72985590",0.21,0.43,0.46,0.39,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTSL5",1,60,"非编码区",14200,"0.2727=3/11",null,339366,"19p13.3","NM_213604",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v761",3,2,0.67,{"$nulls":3},"A有","32630A","ADAP1","chr7:938282","c.*276C>T(exon11)","非编码区","rs77474447",0.15,0.27,0.26,0.28,0.3,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非编码区",14200,"0.6667=2/3",null,11033,"7p22.3","NM_006869",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v762",28,28,1,{"$nulls":3},"A有","32630A","ADAP1","chr7:940181","c.721G>A(exon7)","p.G241S","rs10256887",0.87,0.88,0.89,0.88,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非同义",12230,"1.0000=31/31",null,11033,"7p22.3","NM_006869",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v763",33,12,0.36,{"$nulls":3},"A有","32630A","ADAP1","chr7:940258-940259","c.649-6(exon7)_c.649-5(exon7)insTGCCTTTGCC","非编码区","rs113839920",0.47,0.4,0.43,0.38,0.078,0.44,"杂合","未知","内含子突变",{"$nulls":4},4,null,6,0,"ADAP1",1,52,"非编码区",2500,"0.3846=15/39",null,11033,"7p22.3","NM_006869",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v764",34,34,1,{"$nulls":3},"A有","32630A","ADAP1","chr7:940267","c.649-14A>G(exon7)","非编码区","rs3824079",0.67,0.57,0.6,0.55,0.54,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非编码区",16202,"1.0000=40/40",null,11033,"7p22.3","NM_006869",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v765",44,44,1,{"$nulls":3},"A有","32630A","ADAP1","chr7:944683","c.501+14G>A(exon5)","非编码区","rs1881121",0.9,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非编码区",16203,"1.0000=47/47",null,11033,"7p22.3","NM_006869",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v766",40,21,0.53,{"$nulls":3},"A有","32630A","ADAP1","chr7:959692","c.306-5C>T(exon4)","非编码区","rs6962883",0.12,0.25,0.25,0.26,0.27,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAP1",1,52,"非编码区",16202,"0.5349=23/43",null,11033,"7p22.3","NM_006869",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v767",60,38,0.63,{"$nulls":3},"A有","32630A","ADAP2","chr17:29250044","c.181G>A(exon2)","p.V61I","rs148209227",0.0002,0.0024,0,0.0049,0.00052,3.5E-4,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"ADAP2",1,110,"非同义",12120,"0.6176=42/68",null,55803,"17q11.2","NM_018404",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v776",86,52,0.6,{"$nulls":3},"A有","32630A","ADAR","chr1:154557685","c.2558+8G>A(exon14)","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"非编码区",16203,"0.6111=55/90",null,103,"1q21.3","NM_001193495",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v776",86,52,0.6,{"$nulls":3},"A有","32630A","ADAR","chr1:154557685","c.2558+8G>A(exon14)","非编码区","rs9427094",0.39,0.5,0.51,0.48,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,5,2,"ADAR",1,96,"非编码区",16203,"0.6111=55/90",null,103,"1q21.3","NM_001193495",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v777",60,60,1,{"$nulls":3},"A有","32630A","ADAR","chr1:154573967","c.266A>G(exon2)","p.K89R","rs2229857",0.62,0.67,0.69,0.65,0.7,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","25098560;19434718;21939710","遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"非同义",12220,"1.0000=70/70",null,103,"1q21.3","NM_001193495","rs2229857|\"IFN_gamma_response_to_Rubella_association_with\"|25098560;LYS384ARG|\"IFN_gamma_response_to_Rubella_association_with\"|25098560","rs2229857|Benign|NA|NA|criteria provided, single submitter|NA;LYS384ARG|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v777",60,60,1,{"$nulls":3},"A有","32630A","ADAR","chr1:154573967","c.266A>G(exon2)","p.K89R","rs2229857",0.62,0.67,0.69,0.65,0.7,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","25098560;19434718;21939710","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,5,2,"ADAR",1,96,"非同义",12220,"1.0000=70/70",null,103,"1q21.3","NM_001193495","rs2229857|\"IFN_gamma_response_to_Rubella_association_with\"|25098560;LYS384ARG|\"IFN_gamma_response_to_Rubella_association_with\"|25098560","rs2229857|Benign|NA|NA|criteria provided, single submitter|NA;LYS384ARG|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v778",88,88,1,{"$nulls":3},"A有","32630A","ADAR","chr1:154574820","c.298A>G(exon2)","p.R100G","rs1466731",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"非同义",12230,"1.0000=102/102",null,103,"1q21.3","NM_001111",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v778",88,88,1,{"$nulls":3},"A有","32630A","ADAR","chr1:154574820","c.298A>G(exon2)","p.R100G","rs1466731",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,5,2,"ADAR",1,96,"非同义",12230,"1.0000=102/102",null,103,"1q21.3","NM_001111",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v779",33,33,1,{"$nulls":3},"A有","32630A","ADAR","chr1:154575040","c.78G>A(exon2)","p.R26R","rs1802645",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"同义",13203,"1.0000=38/38",null,103,"1q21.3","NM_001111",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v779",33,33,1,{"$nulls":3},"A有","32630A","ADAR","chr1:154575040","c.78G>A(exon2)","p.R26R","rs1802645",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,1,5,2,"ADAR",1,96,"同义",13203,"1.0000=38/38",null,103,"1q21.3","NM_001111",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v780",49,24,0.49,{"$nulls":3},"A有","32630A","ADAR","chr1:154580458","c.15+10G>T(exon1)","非编码区","rs58655370",0.3,0.12,0.15,0.097,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","遗传性对称性色素异常症","AD",127400,5,1,5,2,"ADAR",1,96,"非编码区",16203,"0.5000=28/56",null,103,"1q21.3","NM_001111",null,"rs58655370|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v780",49,24,0.49,{"$nulls":3},"A有","32630A","ADAR","chr1:154580458","c.15+10G>T(exon1)","非编码区","rs58655370",0.3,0.12,0.15,0.097,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","艾卡迪综合征6型/Aicardi-Goutieres 综合征6型","AR",615010,5,3,5,2,"ADAR",1,96,"非编码区",16203,"0.5000=28/56",null,103,"1q21.3","NM_001111",null,"rs58655370|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v768",51,18,0.35,{"$nulls":3},"A有","32630A","ADARB1","chr21:46641968","c.2082G>A(exon12)","p.K694K","rs1051367",0.49,0.57,0.6,0.55,0.56,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADARB1",1,110,"同义",13203,"0.3393=19/56",null,104,"21q22.3","NM_015833",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v769",2,2,1,{"$nulls":3},"A有","32630A","ADARB1","chr21:46644986-46644990","c.*2874(exon12)_c.*2878(exon12)delTTGTT","非编码区","rs6487",{"$nulls":4},0,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ADARB1",1,110,"非编码区",2430,"1.0000=2/2",null,104,"21q22.3","NM_015833",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v770",16,10,0.62,{"$nulls":3},"A有","32630A","ADARB2","chr10:1229009","c.*124C>T(exon10)","非编码区","rs904960",0.65,0.7,0.72,0.69,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADARB2",1,50,"非编码区",14200,"0.6471=11/17",null,105,"10p15.3","NM_018702",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v771",48,21,0.44,{"$nulls":3},"A有","32630A","ADARB2","chr10:1230968","c.1876G>A(exon9)","p.A626T","rs2271275",0.54,0.65,0.65,0.66,0.58,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17544380,{"$nulls":3},5,null,6,0,"ADARB2",1,50,"非同义",12220,"0.4364=24/55",null,105,"10p15.3","NM_018702",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v772",54,54,1,{"$nulls":3},"A有","32630A","ADARB2","chr10:1245893","c.1864+13T>G(exon8)","非编码区","rs1983028",null,0.67,0.65,0.69,null,0.67,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,6,0,"ADARB2",1,50,"非编码区",16303,"1.0000=58/58",null,105,"10p15.3","NM_018702",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v773",22,22,1,{"$nulls":3},"A有","32630A","ADARB2","chr10:1263076","c.1514-17G>A(exon7)","非编码区","rs3750677",0.35,0.38,0.36,0.4,null,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADARB2",1,50,"非编码区",16202,"1.0000=23/23",null,105,"10p15.3","NM_018702",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v774",156,62,0.4,{"$nulls":3},"A有","32630A","ADARB2","chr10:1421326","c.130G>A(exon2)","p.A44T","rs3793733",0.05,0.12,0.14,0.11,0.14,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADARB2",1,50,"非同义",12220,"0.3876=69/178",null,105,"10p15.3","NM_018702",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v775",8,8,1,{"$nulls":3},"A有","32630A","ADARB2","chr10:1779498","c.-154A>G(exon1)","非编码区","rs3750683",0.29,0.42,0.44,0.4,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADARB2",1,50,"非编码区",14200,"1.0000=8/8",null,105,"10p15.3","NM_018702",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v781",2,2,1,{"$nulls":3},"A有","32630A","ADAT1","chr16:75633712","c.*402T>C(exon11)","非编码区","rs11149842",0.43,0.78,0.76,0.8,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAT1",1,98,"非编码区",14200,"1.0000=2/2",null,23536,"16q23.1","NM_012091",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v782",64,64,1,{"$nulls":3},"A有","32630A","ADAT1","chr16:75646576","c.608C>A(exon7)","p.T203N","rs3743599",0.27,0.74,0.73,0.75,0.74,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAT1",1,98,"非同义",12220,"1.0000=70/70",null,23536,"16q23.1","NM_012091",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v783",32,32,1,{"$nulls":3},"A有","32630A","ADAT1","chr16:75646685","c.499C>A(exon7)","p.H167N","rs3743598",0.57,0.81,0.82,0.81,0.81,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16251468,{"$nulls":3},5,null,3,0,"ADAT1",1,98,"非同义",12220,"1.0000=41/41",null,23536,"16q23.1","NM_012091",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v784",14,8,0.57,{"$nulls":3},"A有","32630A","ADAT3","chr19:1912934","c.888T>C(exon2)","p.T296T","rs12984675",0.36,0.41,0.42,0.4,0.43,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传性精神智力发育迟滞36型","AR",615286,5,3,2,1,"ADAT3",1,11,"同义",13203,"0.5714=8/14",null,113179,"19p13.3","NM_138422",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v785",16,7,0.44,{"$nulls":3},"A有","32630A","ADAT3","chr19:1912986","c.940C>T(exon2)","p.L314L","rs76159002",0.24,0.22,0.24,0.19,0.24,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传性精神智力发育迟滞36型","AR",615286,5,3,2,1,"ADAT3",1,11,"同义",13203,"0.4375=7/16",null,113179,"19p13.3","NM_138422",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v836",76,37,0.49,{"$nulls":3},"A有","32630A","ADC","chr1:33562349","c.795A>T(exon9)","p.P265P","rs80035754",2E-3,0.0072,0.0048,0.0097,0.0042,0.0031,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ADC",1,92,"同义",13103,"0.4524=38/84",null,113451,"1p35.1","NM_052998",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v837",69,35,0.51,{"$nulls":3},"A有","32630A","ADC","chr1:33562416","c.862G>T(exon9)","p.A288S","rs16835244",0.039,0.12,0.13,0.12,0.1,0.095,"杂合","可能相关","Provean软件蛋白结构预测可能有害",20147969,{"$nulls":3},2,null,2,0,"ADC",1,92,"非同义",12110,"0.5526=42/76",null,113451,"1p35.1","NM_052998","ALA288SER|\"Hypertension_association_with\"|20147969",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v788",63,37,0.59,{"$nulls":3},"A有","32630A","ADCK1","chr14:78365612","c.741+11C>T(exon6)","非编码区","rs2287650",0.37,0.43,0.41,0.46,0.41,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADCK1",1,83,"非编码区",16203,"0.5909=39/66",null,57143,"14q24.3","NM_020421",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v789",88,43,0.49,{"$nulls":3},"A有","32630A","ADCK1","chr14:78390880","c.939T>C(exon8)","p.N313N","rs2302944",0.23,0.29,0.29,0.29,0.3,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADCK1",1,83,"同义",13203,"0.4615=48/104",null,57143,"14q24.3","NM_020421",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v790",7,3,0.43,{"$nulls":3},"A有","32630A","ADCK1","chr14:78399867","c.*133T>C(exon11)","非编码区","rs3087972",0.48,0.41,0.4,0.42,0.45,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADCK1",1,83,"非编码区",14200,"0.3333=3/9",null,57143,"14q24.3","NM_020421",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v791",37,37,1,{"$nulls":3},"A有","32630A","ADCK4","chr19:41211056","c.521A>G(exon7)","p.H174R","rs3865452",0.48,0.45,0.41,0.49,0.44,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肾病综合征（NS）9型","AR",615573,5,1,1,1,"ADCK4",1,88,"非同义",12220,"1.0000=39/39",null,79934,"19q13.2","NM_024876",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v792",25,24,0.96,{"$nulls":3},"A有","32630A","ADCK5","chr8:145603114","c.51A>C(exon2)","p.R17S","rs6599528",0.63,0.66,0.7,0.62,0.6,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADCK5",1,41,"非同义",12220,"0.9667=29/30",null,203054,"8q24.3","NM_174922",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v793",13,13,1,{"$nulls":3},"A有","32630A","ADCK5","chr8:145617535-145617549","c.1257(exon12)_c.1267+4(exon12)delGGGGGTGCAAGGTGA","p.L419Lfs*84","rs148509143",null,0.66,0.69,0.62,0,0.51,"纯合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,4,0,"ADCK5",1,41,"移码",2130,"1.0000=13/13",null,203054,"8q24.3","NM_174922",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v794",19,19,1,{"$nulls":3},"A有","32630A","ADCK5","chr8:145618309","c.*20G>A(exon15)","非编码区","rs1052951",0.46,0.68,0.7,0.65,0.65,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADCK5",1,41,"非编码区",14200,"1.0000=24/24",null,203054,"8q24.3","NM_174922",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v795",19,19,1,{"$nulls":3},"A有","32630A","ADCK5","chr8:145618312","c.*23G>A(exon15)","非编码区","rs1052952",0.45,0.68,0.7,0.65,0.65,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADCK5",1,41,"非编码区",14200,"1.0000=24/24",null,203054,"8q24.3","NM_174922",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v821",27,27,1,{"$nulls":3},"A有","32630A","ADCY7","chr16:50326661","c.612A>G(exon4)","p.A204A","rs8051594",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADCY7",1,74,"同义",13203,"1.0000=31/31",null,113,"16q12.1","NM_001114",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v866",2,2,1,{"$nulls":3},"A有","32630A","ADIPOQ","chr3:186574486","c.*1993G>A(exon4)","非编码区","rs4686804",0.46,0.41,0.43,0.39,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血清脂联素数量性状位点1",null,612556,5,1,4,1,"ADIPOQ",1,140,"非编码区",14200,"1.0000=4/4",null,9370,"3q27","NM_001177800",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v896",9,5,0.56,{"$nulls":3},"A有","32630A","ADRB1","chr10:115804036","c.145A>G(exon1)","p.S49G","rs1801252",0.18,0.13,0.12,0.15,0.1,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11854867;11052857;16120061;17512307;18534365","静止心率变异型",null,607276,5,2,2,1,"ADRB1",1,13,"非同义",11200,"0.6000=6/10",null,153,"10q25.3","NM_000684","SER49GLY|\"Heart_failure_survival_association_with\"|11052857","SER49GLY|association|OMIM:607276|OMIM:109630.0002|no assertion criteria provided|PubMed:11854867","SER49GLY|607276|109630.0002.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v914",47,23,0.49,{"$nulls":3},"A有","32630A","AEBP1","chr7:44147485","c.817C>A(exon5)","p.P273T","rs2537188",0.36,0.27,0.27,0.27,0.23,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AEBP1",1,110,"非同义",12220,"0.4561=26/57",null,165,"7p13","NM_001129",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v983",105,45,0.43,{"$nulls":3},"A有","32630A","AGBL1","chr15:86800209","c.723C>T(exon7)","p.P241P","rs1353578",0.54,0.25,0.24,0.25,0.21,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Fuchs角膜内皮营养不良","AD",615523,5,1,10,1,"AGBL1",1,130,"同义",13203,"0.4298=49/114",null,123624,"15q25.3","NM_152336",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1009",348,201,0.58,{"$nulls":3},"A有","32630A","AGL","chr1:100376325","c.3758G>A(exon28)","p.R1253H","rs12043139",0.013,0.043,0.029,0.058,0.026,0.033,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"糖原累积症III型（包括IIIa,b,c,d型）","AR",232400,3,3,8,1,"AGL",1,250,"非同义",12120,"0.5582=235/421",null,178,"1p21","NM_000028",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1038",47,19,0.4,{"$nulls":3},"A有","32630A","AGT","chr1:230840096","c.1125-13A>G(exon4)","非编码区","rs1926723",0.13,0.32,0.3,0.35,0.36,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22739771,"原发性高血压",null,145500,5,2,4,3,"AGT",1,68,"非编码区",16202,"0.3958=19/48",null,183,"1q42.2","NM_000029",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1093",244,131,0.54,{"$nulls":3},"A有","32630A","AHNAK2","chr14:105414810","c.6978G>C(exon7)","p.L2326L","rs10145032",0.53,0.42,0.45,0.38,0.43,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,68,0,"AHNAK2",0.99,190,"同义",13203,"0.5296=161/304",null,113146,"14q32.33","NM_138420",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1105",91,91,1,{"$nulls":3},"A有","32630A","AHNAK2","chr14:105417147","c.4641T>C(exon7)","p.S1547S","rs2013445",0.43,0.33,0.36,0.3,0.37,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,68,0,"AHNAK2",0.99,190,"同义",13203,"1.0000=104/104",null,113146,"14q32.33","NM_138420",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1151",49,49,1,{"$nulls":3},"A有","32630A","AIFM3","chr22:21331043","c.1152A>T(exon12)","p.R384R","rs178269",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AIFM3",1,79,"同义",13203,"1.0000=53/53",null,150209,"22q11.21","NM_001146288",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1173",44,22,0.5,{"$nulls":3},"A有","32630A","AIPL1","chr17:6331803","c.300A>G(exon3)","p.L100L","rs8075035",0.58,0.54,0.56,0.52,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,3,5,2,"AIPL1",1,58,"同义",13203,"0.5102=25/49",null,23746,"17p13.1","NM_014336",null,"rs8075035|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1239",70,36,0.51,{"$nulls":3},"A有","32630A","AKAP2","chr9:112900199","c.1949T>C(exon2)","p.L650S","rs914358",0.46,0.31,0.3,0.33,0.3,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AKAP2",1,10,"非同义",12220,"0.5256=41/78",null,11217,"9q31.3","NM_001198656",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1258",68,68,1,{"$nulls":3},"A有","32630A","AKAP6","chr14:33293122","c.6103A>G(exon13)","p.N2035D","rs1051695",0.71,0.73,0.68,0.78,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"AKAP6",1,120,"非同义",12220,"1.0000=80/80",null,9472,"14q12","NM_004274",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1297",205,88,0.43,{"$nulls":3},"A有","32630A","AKR1B10","chr7:134216684","c.259C>T(exon3)","p.P87S","rs2303312",0.066,0.26,0.27,0.24,0.23,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AKR1B10",1,210,"非同义",12220,"0.4585=105/229",null,57016,"7q33","NM_020299",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1365",81,81,1,{"$nulls":3},"A有","32630A","ALDH3B2","chr11:67432854","c.608A>G(exon7)","p.H203R","rs6591270",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ALDH3B2",1,110,"非同义",12230,"1.0000=98/98",null,222,"11q13","NM_000695",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1386",155,155,1,{"$nulls":3},"A有","32630A","ALG10B","chr12:38712142","c.251C>G(exon2)","p.A84G","rs6582584",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ALG10B",1,190,"非同义",12230,"1.0000=178/178",null,144245,"12q12","NM_001013620",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1433",106,106,1,{"$nulls":3},"A有","32630A","ALLC","chr2:3726163","c.172+18T>C(exon4)","非编码区","rs2043080",0.45,0.39,0.38,0.4,0.39,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ALLC",1,200,"非编码区",16203,"1.0000=116/116",null,55821,"2q35","NM_018436",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1491",103,38,0.37,{"$nulls":3},"A有","32630A","ALPK2","chr18:56204932","c.2487A>C(exon5)","p.K829N","rs3809973",0.4,0.21,0.19,0.22,0.21,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,33,0,"ALPK2",1,90,"非同义",12210,"0.3729=44/118",null,115701,"18q21.31","NM_052947",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1514",87,87,1,{"$nulls":3},"A有","32630A","ALPPL2","chr2:233274145","c.1287G>C(exon10)","p.T429T","rs2090543",0.77,0.93,0.93,0.93,0.92,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ALPPL2",1,130,"同义",13203,"1.0000=106/106",null,251,"2q37","NM_031313",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1535",23,13,0.57,{"$nulls":3},"A有","32630A","ALX4","chr11:44286566","c.1074C>T(exon4)","p.H358H","rs3802805",0.36,0.49,0.48,0.5,0.51,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16319823;12774039","颅缝早闭5","AD",615529,5,1,4,3,"ALX4",1,44,"同义",13203,"0.5652=13/23",null,60529,"11p11.2","NM_021926",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1593",179,94,0.53,{"$nulls":3},"A有","32630A","ANGPTL5","chr11:101765604","c.847+6A>T(exon8)","非编码区","rs11225051",0.14,0.36,0.35,0.36,0.32,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ANGPTL5",1,240,"非编码区",16202,"0.5415=111/205",null,253935,"11q22.1","NM_178127",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1609",154,154,1,{"$nulls":3},"A有","32630A","ANKFN1","chr17:54450038","c.642C>A(exon6)","p.L214L","rs957724",0.62,0.99,1,0.98,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ANKFN1",1,170,"同义",13203,"0.9947=187/188",null,162282,"17q22","NM_153228",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1646",21,10,0.48,{"$nulls":3},"A有","32630A","ANKRD11","chr16:89350178","c.2772C>T(exon10)","p.T924T","rs2279349",0.76,0.67,0.65,0.69,0.63,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"KBG综合征","AD",148050,5,1,5,1,"ANKRD11",1,42,"同义",13203,"0.5217=12/23",null,29123,"16q24.3","NM_001256182",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1690",152,44,0.29,{"$nulls":3},"A有","32630A","ANKRD20A1","chr9:67934804","c.574T>A(exon4)","p.S192T","rs28618293",0.36,0.39,0.4,0.38,0.47,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ANKRD20A1",1,410,"非同义",12220,"0.2045=36/176",null,84210,"9q13","NM_032250",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1753",213,213,1,{"$nulls":3},"A有","32630A","ANKRD28","chr3:15807725","c.190+16A>T(exon3)","非编码区","rs6789076",0.42,0.38,0.33,0.43,0.37,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ANKRD28",1,180,"非编码区",16203,"1.0000=252/252",null,23243,"3p25.1","NM_015199",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1784",22,15,0.68,{"$nulls":3},"A有","32630A","ANKRD33","chr12:52284500","c.770A>G(exon5)","p.Q257R","rs34494292",0.15,0.22,0.2,0.24,0.2,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ANKRD33",1,55,"非同义",12220,"0.6400=16/25",null,341405,"12q13.13","NM_182608",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1928",6,6,1,{"$nulls":3},"A有","32630A","ANKRD36","chr2:97879162","c.3476G>C(exon59)","p.C1159S","rs140729730",0.92,0.93,0.92,0.94,0.57,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,23,0,"ANKRD36",1,430,"非同义",12220,"1.0000=7/7",null,375248,"2q11.2","NM_001164315",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1975",87,58,0.67,{"$nulls":3},"A有","32630A","ANKUB1","chr3:149479256","c.*15T>C(exon6)","非编码区","rs954715",0.062,0.072,0.081,0.063,0.11,0.069,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ANKUB1",1,130,"非编码区",14200,"0.6667=62/93",null,389161,"3q25.1","NM_001144960",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v1999",151,88,0.58,{"$nulls":3},"A有","32630A","ANO5","chr11:22271870","c.966A>T(exon10)","p.L322F","rs7481951",{"$nulls":4},0.17,0.18,"杂合","可能相关","Provean软件蛋白结构预测可能有害",23757202,"成骨发育不全","AD",166260,2,1,4,3,"ANO5",1,210,"非同义",12310,"0.5847=107/183",null,203859,"11p14.3","NM_213599",null,"LEU322PHE|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202;rs7481951|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["32630A(747)v2037",11,7,0.64,{"$nulls":3},"A有","32630A","ANTXR2","chr4:80993796","c.-82C>A(exon1)","非编码区","rs13140055",0.38,0.21,0.2,0.23,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22118297,"幼年透明蛋白纤维瘤病","AR",228600,5,3,4,1,"ANTXR2",1,250,"非编码区",14200,"0.6667=8/12",null,118429,"4q21.21","NM_058172",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2091",31,29,0.94,{"$nulls":3},"A有","32630A","AP2A2","chr11:1009416","c.2610+19C>T(exon20)","非编码区","rs7126709",0.31,0.25,0.27,0.24,0.25,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AP2A2",1,86,"非编码区",16203,"0.9394=31/33",null,161,"11p15.5","NM_001242837",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2121",42,19,0.45,{"$nulls":3},"A有","32630A","APBA3","chr19:3750869","c.*155C>T(exon11)","非编码区","rs4807505",0.16,0.19,0.16,0.21,0.21,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"APBA3",1,43,"非编码区",14200,"0.4400=22/50",null,9546,"19p13.3","NM_004886",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2144",82,82,1,{"$nulls":3},"A有","32630A","APC","chr5:112176325","c.5034G>A(exon17)","p.G1678G","rs42427",0.67,0.8,0.78,0.81,0.81,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;14724163;15768050;16569251;17221838","结肠癌","AD",114500,5,1,7,5,"APC",0.98,140,"同义",13203,"1.0000=95/95",null,324,"5q21-q22","NM_001127510",null,"rs42427|Benign;other|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2168",9,9,1,{"$nulls":3},"A有","32630A","APOA1BP","chr1:156561651","c.55G>C(exon1)","p.V19L","rs7516274",0.93,0.96,0.99,0.94,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"APOA1BP",1,71,"非同义",12220,"1.0000=11/11",null,128240,"1q21","NM_144772",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2205",76,76,1,{"$nulls":3},"A有","32630A","APOBR","chr16:28508447","c.2085A>G(exon2)","p.A695A","rs40831",0.49,0.37,0.41,0.33,0.35,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24778245,{"$nulls":3},5,null,8,0,"APOBR",1,65,"同义",13203,"1.0000=89/89",null,55911,"16p11","NM_018690",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2237",62,62,1,{"$nulls":3},"A有","32630A","APOL4","chr22:36587202","c.968C>T(exon6)","p.S323L","rs6000172",0.65,0.82,0.82,0.82,0.8,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精神分裂症","AD",181500,5,1,16,1,"APOL4",1,86,"非同义",12230,"1.0000=70/70",null,80832,"22q11.2-q13.2","NM_030643",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2265",48,33,0.69,{"$nulls":3},"A有","32630A","APTX","chr9:32986041","c.484-13G>T(exon5)","非编码区","rs10123944",{"$nulls":4},0.96,null,"杂合","未知","剪切位点预测结果为无害","CLINVAR数据库","早发型共济失调伴动眼不能和低白蛋白血症1型","AR",208920,4,3,3,1,"APTX",1,130,"非编码区",16302,"0.6981=37/53",null,54840,"9p13.3","NM_001195249",null,"rs10123944|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2333",230,112,0.49,{"$nulls":3},"A有","32630A","ARHGAP12","chr10:32120678","c.1437G>A(exon10)","p.G479G","rs2808100",0.24,0.41,0.38,0.44,0.37,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ARHGAP12",1,200,"同义",13203,"0.4830=128/265",null,94134,"10p11.22","NM_018287",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2362",92,92,1,{"$nulls":3},"A有","32630A","ARHGAP28","chr18:6890434","c.1263A>G(exon13)","p.P421P","rs1116757",0.56,0.68,0.66,0.69,0.67,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ARHGAP28",1,220,"同义",13203,"1.0000=108/108",null,79822,"18p11.31","NM_001010000",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2391",260,122,0.47,{"$nulls":3},"A有","32630A","ARHGAP42","chr11:100814570","c.1014A>G(exon10)","p.R338R","rs543146",0.41,0.68,0.7,0.65,0.68,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ARHGAP42",1,210,"同义",13203,"0.4872=152/312",null,143872,"11q22.1","NM_152432",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2456",31,17,0.55,{"$nulls":3},"A有","32630A","ARHGEF19","chr1:16534730","c.413-10C>T(exon3)","非编码区","rs221059",0.27,0.13,0.12,0.15,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ARHGEF19",1,54,"非编码区",16202,"0.5882=20/34",null,128272,"1p36.13","NM_153213",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2482",52,23,0.44,{"$nulls":3},"A有","32630A","ARHGEF37","chr5:149000039","c.1005+12C>T(exon8)","非编码区","rs7733761",0.63,0.85,0.86,0.84,0.84,0.83,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ARHGEF37",1,95,"非编码区",16203,"0.4464=25/56",null,389337,"5q32","NM_001001669",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2534",33,10,0.3,{"$nulls":3},"A有","32630A","ARL16","chr17:79650828","c.28A>C(exon1)","p.S10R","rs8066889",0.25,0.2,0.2,0.2,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ARL16",1,63,"非同义",12220,"0.2632=10/38",null,339231,"17q25.3","NM_001040025",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2584",16,7,0.44,{"$nulls":3},"A有","32630A","ARPC4","chr3:9834728","c.-78G>A(exon1)","非编码区","rs184478701",0.0042,0.036,0.038,0.034,0.018,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ARPC4",1,30,"非编码区",14100,"0.3684=7/19",null,10093,"3p25.3","NM_005718",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2612",11,4,0.36,{"$nulls":3},"A有","32630A","ART3","chr4:77033903-77033905","c.*231(exon12)_c.*233(exon12)delTAC","非编码区","rs139676907",{"$nulls":4},0.043,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ART3",1,180,"非编码区",2430,"0.3077=4/13",null,419,"4q21.1|4p15.1-p14","NM_001130016",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2631",36,19,0.53,{"$nulls":3},"A有","32630A","ASAH1","chr8:17914859","c.*184T>A(exon14)","非编码区","rs574114",0.11,0.089,0.095,0.083,0.076,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"法伯脂肪肉芽肿病/Farber病/酸性神经酰胺酶缺乏症","AR",228000,5,3,15,2,"ASAH1",1,190,"非编码区",14200,"0.5476=23/42",null,427,"8p22","NM_177924",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2676",3,2,0.67,{"$nulls":3},"A有","32630A","ASB4","chr7:95157870","c.*183C>A(exon3)","非编码区","rs58930216",0.086,0.048,0.067,0.029,0.094,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ASB4",1,140,"非编码区",14200,"0.6667=2/3",null,51666,"7q21-q22","NM_145872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2726",165,164,0.99,{"$nulls":3},"A有","32630A","ASNS","chr7:97488569","c.629T>A(exon6)","p.V210E","rs1049674",0.88,0.9,0.91,0.89,0.89,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"门冬酰胺合成酶缺乏","AR",615574,5,1,3,1,"ASNS",1,170,"非同义",12220,"0.9948=192/193",null,440,"7q21.3","NM_183356",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2749",140,140,1,{"$nulls":3},"A有","32630A","ASPM","chr1:197112533","c.849C>T(exon3)","p.S283S","rs6677082",0.76,0.99,1,0.97,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;18541031","常染色体隐性原发性小头畸形5型","AR",608716,5,1,9,1,"ASPM",1,140,"同义",13203,"1.0000=156/156",null,259266,"1q31","NM_018136",null,"rs6677082|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2776",114,61,0.54,{"$nulls":3},"A有","32630A","ASXL3","chr18:31326415","c.6603C>T(exon12)","p.A2201A","rs3809986",0.007,0.038,0.029,0.049,0.033,0.038,"杂合","未知","预测范围之外的同义突变",null,"Bainbridge-Ropers综合征","AD",615485,4,1,3,1,"ASXL3",1,140,"同义",13103,"0.5200=65/125",null,80816,"18q11","NM_030632",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2848",48,48,1,{"$nulls":3},"A有","32630A","ATG2A","chr11:64677293","c.1967C>G(exon14)","p.P656R","rs656195",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ATG2A",1,59,"非同义",12220,"1.0000=50/50",null,23130,"11q13.1","NM_015104",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2872",92,42,0.46,{"$nulls":3},"A有","32630A","ATHL1","chr11:293188","c.1296T>C(exon8)","p.H432H","rs12801980",0.4,0.4,0.37,0.42,0.4,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ATHL1",1,72,"同义",13203,"0.4444=48/108",null,80162,"11p15.5","NM_025092",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2899",2,2,1,{"$nulls":3},"A有","32630A","ATP11B","chr3:182511351","c.-197C>T(exon1)","非编码区","rs10222374",0.58,0.45,0.44,0.46,0.47,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ATP11B",1,220,"非编码区",14200,"1.0000=2/2",null,23200,"3q27","NM_014616",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v2960",24,24,1,{"$nulls":3},"A有","32630A","ATP2B3","chrX:152825414","c.2839+14G>T(exon16)","非编码区","rs3020959",null,0.99,0.99,0.99,null,0.99,"半合子","未知","内含子突变可能影响调控",null,"X连锁脊髓小脑性共济失调1","XR",302500,4,1,5,1,"ATP2B3",1,52,"非编码区",16303,"1.0000=25/25",null,492,"Xq28","NM_021949",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v5598",35,22,0.63,{"$nulls":3},"A有","32630A","CD302","chr2:160628210-160628211","c.*151(exon6)_c.*152(exon6)delAA","非编码区","rs3836181",0.22,0.23,0.27,0.19,0.028,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CD302",1,260,"非编码区",2420,"0.6667=26/39",null,9936,"2q24.2","NM_014880",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5636",43,18,0.42,{"$nulls":3},"A有","32630A","CD5L","chr1:157802979","c.1039+3G>A(exon5)","非编码区","rs2261295",0.8,0.81,0.8,0.81,0.83,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CD5L",1,88,"非编码区",16202,"0.4082=20/49",null,922,"1q21-q23","NM_005894",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5649",23,23,1,{"$nulls":3},"A有","32630A","CD74","chr5:149792337","c.-25G>A(exon1)","非编码区","rs55796634",0.13,0.22,0.24,0.21,0.19,0.23,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CD74",1,75,"非编码区",14200,"1.0000=24/24",null,972,"5q32","NM_001025159",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5720",102,17,0.17,{"$nulls":3},"A有","32630A","CDC27","chr17:45219620","c.1371C>T(exon11)","p.A457A","rs75012977",{"$nulls":4},0.075,0,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,55,0,"CDC27",1,350,"同义",13303,"0.2308=27/117",null,996,"17q21.32","NM_001114091",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5746",5,3,0.6,{"$nulls":3},"A有","32630A","CDC34","chr19:541685","c.*133C>T(exon5)","非编码区","rs7150",0.37,0.56,0.57,0.56,0.52,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CDC34",1,78,"非编码区",14200,"0.6000=3/5",null,997,"19p13.3","NM_004359",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5795",11,3,0.27,{"$nulls":3},"A有","32630A","CDCP2","chr1:54606804","c.730G>A(exon3)","p.G244R","rs3766465",0.82,0.88,0.87,0.88,0.87,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CDCP2",1,66,"非同义",12210,"0.2727=3/11",null,200008,"1p32.3","NM_201546",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5830",12,8,0.67,{"$nulls":3},"A有","32630A","CDH23","chr10:73377314","c.*77C>G(exon11)","非编码区","rs7903772",0.55,0.46,0.44,0.49,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传耳聋12型","AR",601386,5,3,22,2,"CDH23",1,78,"非编码区",14200,"0.7143=10/14",null,64072,"10q22.1","NM_001171932",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5845",42,21,0.5,{"$nulls":3},"A有","32630A","CDH23","chr10:73569761","c.8907C>T(exon61)","p.R2969R","rs11000010",0.024,0.079,0.057,0.1,0.091,0.083,"杂合","未知","预测范围之外的同义突变",24033266,"常染色体隐性遗传耳聋12型","AR",601386,4,3,22,2,"CDH23",1,78,"同义",13103,"0.4583=22/48",null,64072,"10q22.1","NM_022124",null,"rs11000010|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5867",113,113,1,{"$nulls":3},"A有","32630A","CDH5","chr16:66432423","c.1550T>C(exon10)","p.I517T","rs1049970",0.74,0.84,0.83,0.85,0.8,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23248849,{"$nulls":3},5,null,4,0,"CDH5",1,97,"非同义",12220,"1.0000=129/129",null,1003,"16q22.1","NM_001795","ILE517THR|\"Haemorrhagic_fever_with_renal_syndrome_reduced_severity_association_with\"|23248849",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5893",154,84,0.55,{"$nulls":3},"A有","32630A","CDHR3","chr7:105658460","c.1595C>G(exon12)","p.T532S","rs73195662",0.067,0.026,0.024,0.029,0.032,0.042,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"CDHR3",1,150,"非同义",12220,"0.5393=96/178",null,222256,"7q22.3","NM_152750",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5961",20,9,0.45,{"$nulls":3},"A有","32630A","CDON","chr11:125830697","c.*140A>G(exon20)","非编码区","rs3737336",0.24,0.27,0.28,0.27,0.28,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","21149617;24740842","前脑无裂畸形11型",null,614226,5,2,5,1,"CDON",1,140,"非编码区",14200,"0.4400=11/25",null,50937,"11q23-q24","NM_001243597",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v5986",53,53,1,{"$nulls":3},"A有","32630A","CDSN","chr6:31084288","c.1104A>G(exon2)","p.A368A","rs1042126",0.65,0.72,0.77,0.67,0.73,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"稀毛症2型/单纯性头皮稀毛症1型","AD",146520,5,1,15,2,"CDSN",1,56,"同义",13203,"1.0000=67/67",null,1041,"6p21.3","NM_001264",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6002",4,4,1,{"$nulls":3},"A有","32630A","CDV3","chr3:133306518","c.*500G>A(exon5)","非编码区","rs6776497",0.86,0.95,0.96,0.93,0.95,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CDV3",1,170,"非编码区",14200,"1.0000=5/5",null,55573,"3q22.1","NM_001134422",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6066",64,64,1,{"$nulls":3},"A有","32630A","CELA3B","chr1:22310662","c.500-20G>T(exon6)","非编码区","rs6426735",0.84,0.72,0.77,0.67,0.72,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"CELA3B",1,130,"非编码区",16202,"1.0000=73/73",null,23436,"1p36.12","NM_007352",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6074",19,19,1,{"$nulls":3},"A有","32630A","CELF2","chr10:11330525","c.955+10G>A(exon9)","非编码区","rs2277214",0.49,0.3,0.29,0.31,null,0.31,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CELF2",1,96,"非编码区",16203,"1.0000=19/19",null,10659,"10p13","NM_001025077",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6118",229,227,0.99,{"$nulls":3},"A有","32630A","CENPJ","chr13:25466955","c.3042A>G(exon10)","p.E1014E","rs3742165",0.48,0.71,0.71,0.7,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"Seckel综合征4","AR",613676,5,1,5,2,"CENPJ",1,150,"同义",13203,"0.9924=260/262",null,55835,"13q12.12","NM_018451",null,"rs3742165|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6147",39,18,0.46,{"$nulls":3},"A有","32630A","CEP120","chr5:122682154","c.*59A>C(exon21)","非编码区","rs2303719",0.65,0.62,0.61,0.64,0.6,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CEP120",1,200,"非编码区",14200,"0.5000=25/50",null,153241,"5q23.2","NM_153223",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6198",214,89,0.42,{"$nulls":3},"A有","32630A","CEP70","chr3:138244400","c.876G>A(exon11)","p.T292T","rs9878436",0.31,0.05,0.052,0.049,0.048,0.049,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CEP70",1,230,"同义",13203,"0.3920=98/250",null,80321,"3q22.3","NM_024491",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6213",128,74,0.58,{"$nulls":3},"A有","32630A","CEP89","chr19:33439187","c.580C>T(exon5)","p.R194W","rs3764633",0.19,0.18,0.19,0.18,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"CEP89",1,120,"非同义",12220,"0.5745=81/141",null,84902,"19q13.11","NM_032816",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6253",76,76,1,{"$nulls":3},"A有","32630A","CES4A","chr16:67037054","c.772A>C(exon6)","p.S258R","rs61744399",0.33,0.23,0.23,0.23,0.23,0.22,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CES4A",1,85,"非同义",12220,"1.0000=80/80",null,283848,"16q22.1","NM_173815",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6298",185,91,0.49,{"$nulls":3},"A有","32630A","CGB","chr19:49527305","c.-77T>C(exon1)","非编码区","rs62126028",0.55,0.4,0.39,0.42,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"CGB",1,88,"非编码区",14200,"0.4930=105/213",null,1082,"19q13.32","NM_000737",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6321",35,35,1,{"$nulls":3},"A有","32630A","CH25H","chr10:90966996","c.54G>C(exon1)","p.L18L","rs10887932",0.28,0.78,0.77,0.79,0.75,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CH25H",1,78,"同义",13203,"1.0000=40/40",null,9023,"10q23","NM_003956",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6355",103,61,0.59,{"$nulls":3},"A有","32630A","CHD3","chr17:7797265","c.1101+12G>A(exon6)","非编码区","rs75122325",0.033,0.12,0.13,0.1,0.11,0.12,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"CHD3",1,100,"非编码区",16103,"0.6222=84/135",null,1107,"17p13.1","NM_001005271",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6412",71,71,1,{"$nulls":3},"A有","32630A","CHID1","chr11:903070","c.153C>G(exon3)","p.V51V","rs28380110",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CHID1",0.94,74,"同义",13203,"1.0000=75/75",null,66005,"11p15.5","NM_001142675",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6444",15,15,1,{"$nulls":3},"A有","32630A","CHPF","chr2:220404381","c.2052T>C(exon4)","p.Y684Y","rs1976616",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CHPF",1,31,"同义",13203,"1.0000=15/15",null,79586,"2q35","NM_024536",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6467",11,11,1,{"$nulls":3},"A有","32630A","CHRNA3","chr15:78913044","c.82+11A>G(exon1)","非编码区","rs12907519",0.16,0.32,0.36,0.29,0.24,0.35,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"吸烟数量性状位点3",null,612052,5,1,7,1,"CHRNA3",0.95,120,"非编码区",16203,"1.0000=16/16",null,1136,"15q24","NM_000743",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6496",2,2,1,{"$nulls":3},"A有","32630A","CHRNB2","chr1:154548721","c.*313T>C(exon6)","非编码区","rs2072660",0.69,0.71,0.72,0.7,0.76,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15154117;16314871;17373692;17503330;18534558","夜发性额叶癫痫3型",null,605375,5,1,3,1,"CHRNB2",1,85,"非编码区",14200,"1.0000=2/2",null,1141,"1q21.3","NM_000748",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6540",11,6,0.55,{"$nulls":3},"A有","32630A","CIB1","chr15:90777267","c.-150C>T(exon1)","非编码区","rs8025979",0.3,0.12,0.12,0.11,0.14,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CIB1",1,92,"非编码区",14200,"0.5385=7/13",null,10519,"15q25.3-q26","NM_006384",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6563",23,12,0.52,{"$nulls":3},"A有","32630A","CISD1","chr10:60028894","c.-140C>T(exon1)","非编码区","rs2251039",0.4,0.44,0.45,0.43,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25168891,{"$nulls":3},5,null,2,0,"CISD1",1,110,"非编码区",14200,"0.5217=12/23",null,55847,"10q21.1","NM_018464",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6589",146,146,1,{"$nulls":3},"A有","32630A","CLCA1","chr1:86959173","c.1571T>C(exon10)","p.M524T","rs2791494",0.85,0.91,0.91,0.91,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CLCA1",1,180,"非同义",12220,"1.0000=172/172",null,1179,"1p22.3","NM_001285",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6634",26,20,0.77,{"$nulls":3},"A有","32630A","CLDN10","chr13:96086010","c.-78A>G(exon1)","非编码区","rs3751334",0.14,0.14,0.13,0.15,0.14,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CLDN10",1,200,"非编码区",14200,"0.7931=23/29",null,9071,"13q31-q34","NM_182848",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6656",82,82,1,{"$nulls":3},"A有","32630A","CLDN8","chr21:31587793","c.451T>C(exon1)","p.S151P","rs686364",0.42,0.44,0.45,0.44,0.42,0.45,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CLDN8",1,95,"非同义",12220,"1.0000=90/90",null,9073,"21q22.11","NM_199328",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6696",66,66,1,{"$nulls":3},"A有","32630A","CLEC3B","chr3:45077123","c.316G>A(exon3)","p.G106S","rs13963",0.56,0.91,0.9,0.93,0.86,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CLEC3B",1,62,"非同义",12220,"1.0000=68/68",null,7123,"3p22-p21.3","NM_003278",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6759",17,11,0.65,{"$nulls":3},"A有","32630A","CLRN1","chr3:150644839","c.*1197A>C(exon4)","非编码区","rs12635299",0.15,0.33,0.35,0.31,0.3,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"视网膜色素变性61型-AR",null,614180,5,2,3,2,"CLRN1",0.96,140,"非编码区",14200,"0.6842=13/19",null,7401,"3q25","NM_001256819",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6787",103,103,1,{"$nulls":3},"A有","32630A","CMIP","chr16:81703861","c.929+11G>A(exon8)","非编码区","rs11150398",0.44,0.6,0.6,0.6,0.58,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CMIP",1,83,"非编码区",16203,"1.0000=111/111",null,80790,"16q23","NM_198390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6825",54,53,0.98,{"$nulls":3},"A有","32630A","CMYA5","chr5:79030346","c.5758A>G(exon2)","p.S1920G","rs16877151",0.28,0.35,0.29,0.42,0.4,0.41,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,30,0,"CMYA5",1,120,"非同义",12220,"0.9836=60/61",null,202333,"5q14.1","NM_153610",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6881",62,62,1,{"$nulls":3},"A有","32630A","CNOT4","chr7:135047703","c.1863A>G(exon11)","p.T621T","rs6969632",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CNOT4",0.98,190,"同义",13203,"1.0000=72/72",null,4850,"7q22-qter","NM_001190847",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6911",134,134,1,{"$nulls":3},"A有","32630A","CNTN3","chr3:74349062","c.2123A>G(exon16)","p.N708S","rs626578",0.12,0.27,0.27,0.27,0.24,0.24,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CNTN3",1,200,"非同义",12220,"1.0000=150/150",null,5067,"3p12.3","NM_020872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6931",72,31,0.43,{"$nulls":3},"A有","32630A","CNTNAP2","chr7:148106490","c.3723G>A(exon23)","p.A1241A","rs9648691",0.55,0.38,0.39,0.38,0.39,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"孤独症,易感15型",null,612100,5,2,7,2,"CNTNAP2",1,160,"同义",13203,"0.3976=33/83",null,26047,"7q35","NM_014141",null,"rs9648691|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v6986",28,14,0.5,{"$nulls":3},"A有","32630A","COG2","chr1:230778244-230778244","c.-109(exon1)delC","非编码区","rs11361885",{"$nulls":4},0.028,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"COG2",1,180,"非编码区",2430,"0.4667=14/30",null,22796,"1q42.2","NM_007357",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v7018",227,225,0.99,{"$nulls":3},"A有","32630A","COL11A1","chr1:103379918","c.4004C>T(exon52)","p.P1335L","rs3753841",0.5,0.71,0.72,0.69,0.7,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17697348;17999364;22922875;23505305;23624467","椎间盘疾病（易感）",null,603932,5,1,7,4,"COL11A1",1,230,"非同义",12210,"0.9925=263/265",null,1301,"1p21","NM_080629",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7024",41,41,1,{"$nulls":3},"A有","32630A","COL11A2","chr6:33141161","c.2700T>C(exon37)","p.D900D","rs2229785",0.88,0.98,0.99,0.96,0.96,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"stickler综合征III型","AD",184840,5,1,9,6,"COL11A2",0.87,34,"同义",13203,"1.0000=46/46",null,1302,"6p21.3","NM_080680",null,"rs2229785|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7029",92,92,1,{"$nulls":3},"A有","32630A","COL12A1","chr6:75797302","c.9172G>A(exon65)","p.G3058S","rs970547",0.71,0.67,0.67,0.66,0.66,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16741161;22894972;25073002",{"$nulls":3},5,null,4,0,"COL12A1",1,190,"非同义",12210,"1.0000=107/107",null,1303,"6q12-q13","NM_004370","rs970547|\"Lung_cancer_susceptibility_to_association_with\"|16741161;GLY3058SER|\"Lung_cancer_susceptibility_to_association_with\"|16741161",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7080",38,38,1,{"$nulls":3},"A有","32630A","COL1A1","chr17:48265495","c.3223A>G(exon44)","p.T1075A","rs1800215",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15113403;15157284;18996919;19152976","骨质疏松症","AD",166710,5,1,5,8,"COL1A1",1,86,"非同义",12230,"1.0000=41/41",null,1277,"17q21.33","NM_000088",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7085",265,136,0.51,{"$nulls":3},"A有","32630A","COL1A2","chr7:94030899","c.246T>C(exon6)","p.D82D","rs1800222",0.3,0.4,0.41,0.38,0.4,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19015742,"爱唐综合症(皮肤弹力过度症)7A型（arthrochalasia型）","AD",130060,5,1,7,6,"COL1A2",1,240,"同义",13203,"0.5095=161/316",null,1278,"7q22.1","NM_000089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7090",188,84,0.45,{"$nulls":3},"A有","32630A","COL1A2","chr7:94047050","c.1878G>T(exon32)","p.V626V","rs1800238",0.099,0.38,0.38,0.37,0.38,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23800505,"爱唐综合症(皮肤弹力过度症)7A型（arthrochalasia型）","AD",130060,5,1,7,6,"COL1A2",1,240,"同义",13203,"0.4332=94/217",null,1278,"7q22.1","NM_000089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7132",42,42,1,{"$nulls":3},"A有","32630A","COL2A1","chr12:48376291","c.2295C>T(exon34)","p.G765G","rs2276454",0.43,0.57,0.57,0.57,0.6,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17697348;18523590;19430638;25436060","软骨生成不全2型","AD",200610,5,1,8,14,"COL2A1",1,99,"同义",13203,"1.0000=44/44",null,1280,"12q13.11","NM_001844",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7134",126,126,1,{"$nulls":3},"A有","32630A","COL2A1","chr12:48389643","c.654+15T>G(exon9)","非编码区","rs1034762",0.68,0.48,0.48,0.49,0.5,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19387081,"脊椎外围发育不良","AD",271700,5,1,8,14,"COL2A1",1,99,"非编码区",16203,"1.0000=153/153",null,1280,"12q13.11","NM_001844",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7136",64,64,1,{"$nulls":3},"A有","32630A","COL2A1","chr12:48398002","c.85+18C>G(exon1)","非编码区","rs3803184",0.69,0.58,0.59,0.58,0.6,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"Strudwick型脊椎骨骺-干骺端发育不良","AD",184250,5,1,8,14,"COL2A1",1,99,"非编码区",16203,"1.0000=73/73",null,1280,"12q13.11","NM_001844",null,"rs3803184|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7148",234,121,0.52,{"$nulls":3},"A有","32630A","COL4A1","chr13:110857895","c.859-10T>C(exon16)","非编码区","rs677877",0.6,0.75,0.76,0.74,0.76,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脑小血管病伴出血/脑小血管病伴Axenfeld-Rieger异常","AD",607595,5,1,15,4,"COL4A1",1,160,"非编码区",16202,"0.5141=146/284",null,1282,"13q34","NM_001845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7156",140,84,0.6,{"$nulls":3},"A有","32630A","COL4A2","chr13:111111173","c.1488G>A(exon22)","p.P496P","rs7990214",0.49,0.23,0.2,0.27,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脑出血、中风（易感）",null,614519,5,2,13,2,"COL4A2",1,140,"同义",13203,"0.6235=101/162",null,1284,"13q34","NM_001846",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7171",193,193,1,{"$nulls":3},"A有","32630A","COL4A3","chr2:228113175","c.485A>G(exon9)","p.E162G","rs6436669",0.8,0.92,0.94,0.91,0.9,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20029656,"常染色体显性遗传的Alport综合征","AD",104200,5,1,8,3,"COL4A3",1,230,"非同义",12220,"1.0000=223/223",null,1285,"2q36-q37","NM_000091",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7199",88,46,0.52,{"$nulls":3},"A有","32630A","COL5A1","chr9:137704433","c.3745-18G>A(exon48)","非编码区","rs45556931",0.11,0.034,0.048,0.019,0.033,0.047,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","爱唐综合症(皮肤弹力过度症)1型（经典型）","AD",130000,5,1,9,2,"COL5A1",1,110,"非编码区",16202,"0.5534=57/103",null,1289,"9q34.2-q34.3","NM_000093",null,"rs45556931|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7225",48,19,0.4,{"$nulls":3},"A有","32630A","COL6A2","chr21:47545768","c.2039G>A(exon26)","p.R680H","rs1042917",0.39,0.41,0.39,0.43,0.45,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;20466643","Bethlem肌病","AD,AR",158810,5,1,15,3,"COL6A2",1,53,"非同义",12220,"0.3878=19/49",null,1292,"21q22.3","NM_058175",null,"ARG680HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7233",7,3,0.43,{"$nulls":3},"A有","32630A","COL6A2","chr21:47552582","c.*116T>C(exon28)","非编码区","rs3087667",0.064,0.038,0.043,0.034,0.031,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性肌硬化症","AR",255600,5,3,15,3,"COL6A2",1,53,"非编码区",14200,"0.4286=3/7",null,1292,"21q22.3","NM_001849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7254",95,46,0.48,{"$nulls":3},"A有","32630A","COL6A6","chr3:130284284","c.1108G>A(exon3)","p.A370T","rs9830253",0.52,0.46,0.44,0.48,0.45,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"COL6A6",1,160,"非同义",12210,"0.5143=54/105",null,131873,"3q22.1","NM_001102608",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7291",44,25,0.57,{"$nulls":3},"A有","32630A","COMT","chr22:19956262-19956263","c.*3(exon6)_c.*4(exon6)insC","非编码区","rs72552064",null,0.56,0.55,0.57,0.39,0,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"恐慌综合征1（易感）","AD",167870,3,1,2,2,"COMT",1,74,"非编码区",2430,"0.5745=27/47",null,1312,"22q11.21","NM_000754",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v7316",67,36,0.54,{"$nulls":3},"A有","32630A","COQ4","chr9:131088076","c.318G>A(exon4)","p.S106S","rs2270203",0.13,0.19,0.16,0.23,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库",{"$nulls":3},5,null,3,0,"COQ4",1,54,"同义",13203,"0.5119=43/84",null,51117,"9q34.11","NM_016035",null,"rs2270203|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7341",151,42,0.28,{"$nulls":3},"A有","32630A","COX10","chr17:14095550","c.928+12G>A(exon6)","非编码区","rs200573622",{"$nulls":4},0.15,0.15,"杂合","未知","内含子突变可能影响调控","CLINVAR数据库","线粒体复合物IV缺陷","AR",220110,4,3,6,2,"COX10",1,120,"非编码区",16303,"0.2629=46/175",null,1352,"17p12","NM_001303",null,"rs200573622|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7401",73,73,1,{"$nulls":3},"A有","32630A","CPEB3","chr10:93841227","c.1719T>C(exon9)","p.Y573Y","rs2676811",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CPEB3",1,110,"同义",13203,"1.0000=86/86",null,22849,"10q23.32","NM_014912",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7435",67,67,1,{"$nulls":3},"A有","32630A","CPNE7","chr16:89653173","c.1092+9T>C(exon10)","非编码区","rs2292957",0.15,0.41,0.4,0.42,0.4,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CPNE7",1,60,"非编码区",16203,"1.0000=81/81",null,27132,"16q24.3","NM_014427",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7453",113,50,0.44,{"$nulls":3},"A有","32630A","CPS1","chr2:211456637","c.1030A>G(exon10)","p.T344A","rs1047883",{"$nulls":4},0.4,0.55,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","CLINVAR数据库","新生儿肺动脉高压（易感）",null,615371,3,2,6,2,"CPS1",1,210,"非同义",12320,"0.4370=59/135",null,1373,"2q35","NM_001875",null,"rs1047883|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA;THR344ALA|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7521",67,67,1,{"$nulls":3},"A有","32630A","CR1","chr1:207782916","c.6178A>T(exon37)","p.T2060S","rs4844609",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","11896343;22343410;23582656","疟疾,易感",null,611162,5,1,7,2,"CR1",1,300,"非同义",12220,"1.0000=79/79",null,1378,"1q32","NM_000651","rs4844609|\"Knops_blood_group_variation\"|11896343",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7539",58,23,0.4,{"$nulls":3},"A有","32630A","CRB2","chr9:126129904","c.993C>T(exon6)","p.N331N","rs10818812",0.28,0.36,0.43,0.28,0.33,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"CRB2",1,32,"同义",13203,"0.4179=28/67",null,286204,"9q33.3","NM_173689",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7592",18,18,1,{"$nulls":3},"A有","32630A","CRIPAK","chr4:1388115","c.-185C>G(exon1)","非编码区","rs6599309",0.77,0.72,0.71,0.73,0.7,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CRIPAK",1,140,"非编码区",14200,"1.0000=19/19",null,285464,"4p16.3","NM_175918",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7594",11,11,1,{"$nulls":3},"A有","32630A","CRIPAK","chr4:1388759-1388760","c.460(exon1)_c.460(exon1)insGGAGTGCCCGCCTGCTCACACGTGCCGACGT","p.R154Rfs*264","rs759566743",{"$nulls":5},0.35,"纯合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,4,0,"CRIPAK",1,140,"移码",2130,"1.0000=11/11",null,285464,"4p16.3","NM_175918",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v7665",14,14,1,{"$nulls":3},"A有","32630A","CRYZ","chr1:75198763","c.-176T>G(exon1)","非编码区","rs277372",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"CRYZ",1,190,"非编码区",14200,"1.0000=15/15",null,1429,"1p31-p22","NM_001130042",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v8950",25,14,0.56,{"$nulls":3},"A有","32630A","DKKL1","chr19:49867009","c.-378G>C(exon1)","非编码区","rs2288479",0.6,0.5,0.47,0.53,0.46,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"DKKL1",1,87,"非编码区",14200,"0.5556=15/27",null,27120,"19q13.33","NM_001197302",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9010",2,2,1,{"$nulls":3},"A有","32630A","DLST","chr14:75369385","c.*352C>T(exon15)","非编码区","rs1059326",0.29,0.23,0.28,0.19,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DLST",1,140,"非编码区",14200,"1.0000=2/2",null,1743,"14q24.3","NM_001933",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9021",274,109,0.4,{"$nulls":3},"A有","32630A","DMBT1","chr10:124339378","c.964A>G(exon10)","p.N322D","rs1969620",0.1,0.21,0.18,0.25,0.18,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"DMBT1",1,300,"非同义",12210,"0.3875=124/320",null,1755,"10q26.13","NM_004406",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9051",2,2,1,{"$nulls":3},"A有","32630A","DMRT1","chr9:968334","c.*195G>A(exon5)","非编码区","rs279894",0.94,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"DMRT1",1,74,"非编码区",14200,"1.0000=2/2",null,1761,"9p24.3","NM_021951",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9080",27,8,0.3,{"$nulls":3},"A有","32630A","DNAAF3","chr19:55672055","c.839T>C(exon9)","p.L280P","rs890871",0.12,0.22,0.21,0.23,0.22,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"原发性纤毛运动障碍2型","AR",606763,5,3,7,1,"DNAAF3",1,53,"非同义",12220,"0.2759=8/29",null,352909,"19q13.4","NM_001256716",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9148",58,58,1,{"$nulls":3},"A有","32630A","DNAH17","chr17:76456352","c.9340-13A>G(exon59)","非编码区","rs623336",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,31,0,"DNAH17",1,79,"非编码区",16202,"1.0000=66/66",null,8632,"17q25.3","NM_173628",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9177",90,41,0.46,{"$nulls":3},"A有","32630A","DNAH2","chr17:7673605","c.3977A>G(exon24)","p.E1326G","rs11868946",0.075,0.19,0.17,0.21,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"DNAH2",1,87,"非同义",12210,"0.4800=48/100",null,146754,"17p13.1","NM_020877",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9209",195,94,0.48,{"$nulls":3},"A有","32630A","DNAH6","chr2:85024731","c.11430C>T(exon70)","p.I3810I","rs1192395",0.1,0.082,0.086,0.078,0.064,0.085,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"DNAH6",1,200,"同义",13203,"0.4805=111/231",null,1768,"2p11.2","NM_001370",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9280",15,15,1,{"$nulls":3},"A有","32630A","DNAJC2","chr7:102985211","c.-142G>C(exon1)","非编码区","rs2074624",0.45,0.33,0.29,0.37,0.35,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DNAJC2",1,150,"非编码区",14200,"1.0000=16/16",null,27000,"7q22","NM_014377",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9304",109,55,0.5,{"$nulls":3},"A有","32630A","DNASE2","chr19:12989560","c.435C>T(exon4)","p.S145S","rs2293682",0.37,0.67,0.7,0.64,0.61,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DNASE2",1,67,"同义",13203,"0.5397=68/126",null,1777,"19p13.2","NM_001375",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9327",78,38,0.49,{"$nulls":3},"A有","32630A","DNMT1","chr19:10273372","c.979A>G(exon13)","p.I327V","rs2228612",0.2,0.43,0.41,0.44,0.44,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18499700;23771421;24859147;25337902;25596970","遗传性感觉自主神经病1E型","AD",614116,5,1,4,2,"DNMT1",1,91,"非同义",12220,"0.4494=40/89",null,1786,"19p13.2","NM_001130823",null,"rs2228612|Benign|NA|NA|criteria provided, single submitter|NA;ILE327VAL|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9378",124,64,0.52,{"$nulls":3},"A有","32630A","DOCK5","chr8:25267622","c.5412A>G(exon51)","p.P1804P","rs2709618",0.52,0.62,0.62,0.61,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19640273,{"$nulls":3},5,null,7,0,"DOCK5",1,150,"同义",13203,"0.5068=74/146",null,80005,"8p21.2","NM_024940",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9414",52,22,0.42,{"$nulls":3},"A有","32630A","DOK3","chr5:176930172-176930174","c.865(exon6)_c.867(exon6)delCTC","p.L289del","rs138153794",0.53,0.6,0.53,0.67,0.08,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DOK3",1,46,"非移码",2222,"0.3750=24/64",null,79930,"5q35.3","NM_001144875",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9439",66,66,1,{"$nulls":3},"A有","32630A","DPEP2","chr16:68025801","c.602C>G(exon5)","p.P201R","rs255051",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DPEP2",1,82,"非同义",12230,"1.0000=71/71",null,64174,"16q22.1","NM_022355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9465",47,47,1,{"$nulls":3},"A有","32630A","DPP6","chr7:154679447","c.1758+3G>A(exon26)","非编码区","rs940378",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性阵发性心室颤动2型",null,612956,5,1,6,1,"DPP6",1,130,"非编码区",16202,"1.0000=53/53",null,1804,"7q36.2","NM_001039350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9523",4,2,0.5,{"$nulls":3},"A有","32630A","DRAM1","chr12:102315359","c.*321G>T(exon7)","非编码区","rs4764677",0.62,0.71,0.7,0.71,0.55,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DRAM1",1,140,"非编码区",14200,"0.5000=2/4",null,55332,"12q23.2","NM_018370",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9555",57,57,1,{"$nulls":3},"A有","32630A","DSC3","chr18:28611139","c.155-1T>G(exon3)","剪切位点","rs276936",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Brugada综合征7型","AD",613120,5,1,5,1,"DSC3",1,200,"剪切位点",16204,"1.0000=68/68",null,1825,"18q12.1","NM_024423",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9578",34,33,0.97,{"$nulls":3},"A有","32630A","DSG2","chr18:29126670","c.3321T>C(exon15)","p.V1107V","rs1791235",0.54,0.67,0.67,0.67,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张性心肌病1BB型",null,612877,5,1,3,2,"DSG2",1,160,"同义",13203,"0.9459=35/37",null,1829,"18q12.1","NM_001943",null,"rs1791235|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9595",116,105,0.91,{"$nulls":3},"A有","32630A","DSPP","chr4:88536887-88536919","c.3073(exon5)_c.3105(exon5)delAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT","p.S1025_D1035del",{"$nulls":7},"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"常染色体显性遗传性耳聋39型并牙本质发育不全1","AD",605594,3,1,17,4,"DSPP",1,350,"非移码",2243,"0.9051=124/137",null,1834,"4q21.3","NM_014208",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9604",195,195,1,{"$nulls":3},"A有","32630A","DSPP","chr4:88537737","c.*17G>A(exon5)","非编码区","rs2615489",0.86,0.88,0.87,0.9,0.9,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体显性遗传性耳聋39型并牙本质发育不全1","AD",605594,5,1,17,4,"DSPP",1,350,"非编码区",14200,"1.0000=235/235",null,1834,"4q21.3","NM_014208",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9622",148,83,0.56,{"$nulls":3},"A有","32630A","DST","chr6:56507489","c.98T>C(exon1)","p.L33S","rs1024196",0.13,0.022,0.029,0.015,0.027,0.021,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性感觉自主神经病6型","AR",614653,5,3,10,2,"DST",1,140,"非同义",12220,"0.5889=106/180",null,667,"6p12.1","NM_015548",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9685",286,178,0.62,{"$nulls":3},"A有","32630A","DUSP22","chr6:350940-350941","c.*72(exon8)_c.*73(exon8)insA","非编码区","rs72551074",{"$nulls":4},0.42,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"DUSP22",1,260,"非编码区",2430,"0.6305=215/341",null,56940,"6p25.3","NM_020185",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9712",57,34,0.6,{"$nulls":3},"A有","32630A","DVL1","chr1:1275716","c.700-20A>T(exon7)","非编码区","rs112871502",0.089,0.094,0.11,0.073,0.094,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DVL1",1,45,"非编码区",16202,"0.6167=37/60",null,1855,"1p36","NM_004421",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9745",49,22,0.45,{"$nulls":3},"A有","32630A","DYSF","chr2:71838597","c.4059C>A(exon38)","p.I1353I","rs2303606",0.45,0.48,0.49,0.48,0.46,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"肢带型肌营养不良症2B型","AR",253601,5,3,6,3,"DYSF",1,95,"同义",13202,"0.4717=25/53",null,8291,"2p13.3","NM_001130981",null,"rs2303606|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9793",113,53,0.47,{"$nulls":3},"A有","32630A","ECD","chr10:74899111","c.1476T>C(exon12)","p.A492A","rs3736517",0.047,0.21,0.18,0.24,0.23,0.2,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"ECD",0.95,150,"同义",13103,"0.4836=59/122",null,11319,"10q22.3","NM_001135752",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9829",7,7,1,{"$nulls":3},"A有","32630A","EDA","chrX:69080840","c.*141G>A(exon2)","非编码区","rs1203003",null,1,1,1,null,null,"半合子","未知","UTR突变可能影响蛋白翻译",null,"X连锁选择性牙齿发育不全1型","XD",313500,3,1,1,2,"EDA",0.96,55,"非编码区",14300,"1.0000=8/8",null,1896,"Xq12-q13.1","NM_001005610",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9842",16,16,1,{"$nulls":3},"A有","32630A","EDN1","chr6:12290729-12290729","c.-134(exon1)delA","非编码区","rs1800997",null,0.82,0.83,0.81,0.57,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"房室髁综合征3型","AR",615706,3,1,2,2,"EDN1",1,130,"非编码区",2430,"1.0000=17/17",null,1906,"6p24.1","NM_001955",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9863",30,30,1,{"$nulls":3},"A有","32630A","EEF1D","chr8:144671922","c.330C>T(exon3)","p.R110R","rs3812448",0.64,0.47,0.47,0.48,0.5,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"EEF1D",1,39,"同义",13203,"1.0000=33/33",null,1936,"8q24.3","NM_032378",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9923",66,66,1,{"$nulls":3},"A有","32630A","EFTUD1","chr15:82444437","c.2358T>C(exon18)","p.G786G","rs905450",0.79,0.83,0.85,0.82,0.83,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"EFTUD1",1,150,"同义",13203,"1.0000=70/70",null,79631,"15q25.2","NM_024580",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9949",74,74,1,{"$nulls":3},"A有","32630A","EHBP1L1","chr11:65357697","c.4183+16A>G(exon15)","非编码区","rs1151503",0.85,0.98,0.98,0.98,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"EHBP1L1",0.98,62,"非编码区",16203,"1.0000=81/81",null,254102,"11q13.1","NM_001099409",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v9977",144,144,1,{"$nulls":3},"A有","32630A","EIF2AK2","chr2:37373982-37373983","c.240+13(exon4)_c.240+14(exon4)insA","非编码区","rs2307475",0.93,1,1,1,1,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,3,0,"EIF2AK2",1,190,"非编码区",2500,"1.0000=164/164",null,5610,"2p22-p21","NM_002759",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v10046",39,21,0.54,{"$nulls":3},"A有","32630A","ELAVL3","chr19:11569316","c.444C>T(exon4)","p.Y148Y","rs2242112",0.057,0.12,0.11,0.12,0.14,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ELAVL3",1,70,"同义",13203,"0.5476=23/42",null,1995,"19p13.2","NM_001420",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v10085",103,103,1,{"$nulls":3},"A有","32630A","ELP3","chr8:27950670","c.-62C>T(exon1)","非编码区","rs2305451",0.25,0.26,0.23,0.3,0.25,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ELP3",1,190,"非编码区",14200,"1.0000=119/119",null,55140,"8p21.1","NM_018091",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v11391",57,57,1,{"$nulls":3},"A有","32630A","FAT3","chr11:92570812","c.10225-17T>A(exon16)","非编码区","rs11020075",0.39,0.45,0.45,0.46,0.47,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"FAT3",1,120,"非编码区",16202,"1.0000=66/66",null,120114,"11q14.3","NM_001008781",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11409",3,3,1,{"$nulls":3},"A有","32630A","FAXC","chr6:99726388","c.*2652G>A(exon6)","非编码区","rs1988009",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FAXC",1,150,"非编码区",14200,"1.0000=3/3",null,84553,"6q16.2","NM_032511",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11429",4,4,1,{"$nulls":3},"A有","32630A","FBN1","chr15:48702873","c.*314C>T(exon66)","非编码区","rs1042078",0.6,0.57,0.59,0.55,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17999355,"二尖瓣脱垂综合征",null,604308,5,1,3,7,"FBN1",1,160,"非编码区",14200,"1.0000=4/4",null,2200,"15q21.1","NM_000138",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11451",39,39,1,{"$nulls":3},"A有","32630A","FBN3","chr19:8176919","c.3903G>A(exon30)","p.P1301P","rs4804264",0.69,0.8,0.74,0.85,0.82,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,23,0,"FBN3",1,65,"同义",13203,"1.0000=42/42",null,84467,"19p13","NM_032447",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11504",157,74,0.47,{"$nulls":3},"A有","32630A","FBXO25","chr8:381410","c.53A>G(exon3)","p.K18R","rs141960857",0.018,0.06,0.086,0.034,0.046,0.055,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"FBXO25",1,170,"非同义",12120,"0.4486=83/185",null,26260,"8p23.3","NM_012173",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11536",30,10,0.33,{"$nulls":3},"A有","32630A","FBXO7","chr22:32871227","c.-122C>T(exon1)","非编码区","rs8136485",0.17,0.17,0.17,0.17,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"帕金森病15型,AR遗传","AR",260300,5,3,4,1,"FBXO7",1,140,"非编码区",14200,"0.3333=10/30",null,25793,"22q12-q13","NM_001033024",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11566",5,2,0.4,{"$nulls":3},"A有","32630A","FCGBP","chr19:40367444","c.13516G>A(exon29)","p.G4506R","rs201370318",0.26,0.17,0.17,0.17,0.03,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,34,0,"FCGBP",1,150,"非同义",12220,"0.3333=2/6",null,8857,"19q13.1","NM_003890",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11624",65,31,0.48,{"$nulls":3},"A有","32630A","FCRL2","chr1:157718325","c.1459+18A>C(exon10)","非编码区","rs3818813",0.2,0.21,0.21,0.2,0.21,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FCRL2",1,140,"非编码区",16203,"0.4667=35/75",null,79368,"1q21","NM_030764",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11660",40,18,0.45,{"$nulls":3},"A有","32630A","FER1L5","chr2:97357108","c.2886+18G>A(exon27)","非编码区","rs62156206",0.078,0.14,0.13,0.14,0.12,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"FER1L5",1,95,"非编码区",16203,"0.4884=21/43",null,90342,"2q11.2","NM_001113382",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11690",106,52,0.49,{"$nulls":3},"A有","32630A","FETUB","chr3:186370333","c.1062G>T(exon7)","p.V354V","rs1131364",0.66,0.74,0.75,0.73,0.73,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"FETUB",1,150,"同义",13203,"0.4958=59/119",null,26998,"3q27","NM_014375",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11756",6,5,0.83,{"$nulls":3},"A有","32630A","FGFR1","chr8:38270864","c.*282C>T(exon19)","非编码区","rs567319617",0.0002,0.0024,0,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"哈茨菲尔德综合征","AD",615465,3,1,1,6,"FGFR1",0.97,73,"非编码区",14100,"0.7143=5/7",null,2260,"8p12","NM_001174064",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11758",116,116,1,{"$nulls":3},"A有","32630A","FGFR2","chr10:123298158","c.696A>G(exon6)","p.V232V","rs1047100",0.8,0.92,0.9,0.95,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","11781872;16385451;18285324","Antley-Bixler综合症无生殖畸形或异常类固醇生成2型","AR",207410,5,1,2,11,"FGFR2",1,140,"同义",13203,"1.0000=135/135",null,2263,"10q26","NM_022970",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11770",197,86,0.44,{"$nulls":3},"A有","32630A","FGGY","chr1:59844471","c.516G>A(exon5)","p.P172P","rs835435",0.49,0.45,0.4,0.5,0.49,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FGGY",1,190,"同义",13203,"0.4530=106/234",null,55277,"1p32.1","NM_001113411",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11821",38,23,0.61,{"$nulls":3},"A有","32630A","FKBP2","chr11:64011556","c.*55A>G(exon6)","非编码区","rs2298631",0.061,0.22,0.26,0.18,0.25,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FKBP2",1,71,"非编码区",14200,"0.6098=25/41",null,2286,"11q13.1-q13.3","NM_004470",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v11860",97,97,1,{"$nulls":3},"A有","32630A","FLJ44635","chrX:71379881","c.202G>A(exon2)","p.E68K","rs6624600",null,0.94,0.93,0.96,0.94,0.95,"半合子","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"FLJ44635",1,91,"非同义",12310,"1.0000=107/107",null,392490,"Xq13.1","NM_207422",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v11899",35,17,0.49,{"$nulls":3},"A有","32630A","FLT4","chr5:180046344","c.2670C>G(exon19)","p.H890Q","rs448012",0.58,0.44,0.41,0.48,0.45,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","22015057;25239121","小儿毛细管血管瘤","AD",602089,5,1,10,2,"FLT4",1,54,"非同义",12210,"0.4146=17/41",null,2324,"5q35.3","NM_182925",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v11922",43,22,0.51,{"$nulls":3},"A有","32630A","FMN1","chr15:33261232","c.2001C>T(exon4)","p.P667P","rs2930131",0.53,0.81,0.8,0.83,0.78,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"FMN1",1,130,"同义",13203,"0.4565=21/46",null,342184,"15q13.3","NM_001103184",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v12002",72,30,0.42,{"$nulls":3},"A有","32630A","FNDC7","chr1:109273456","c.1785A>G(exon9)","p.G595G","rs4970809",0.45,0.19,0.17,0.21,0.23,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FNDC7",1,120,"同义",13203,"0.4500=36/80",null,163479,"1p13.3","NM_001144937",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12034",118,118,1,{"$nulls":3},"A有","32630A","FOXA2","chr20:22562674","c.1206A>G(exon2)","p.Q402Q","rs1212275",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18797817,{"$nulls":3},5,null,4,0,"FOXA2",1,55,"同义",13203,"1.0000=139/139",null,3170,"20p11","NM_021784",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v12126",93,33,0.35,{"$nulls":3},"A有","32630A","FRAS1","chr4:79432455","c.9808A>C(exon64)","p.R3270R","rs3749488",0.4,0.49,0.47,0.5,0.49,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Fraser综合征","AR",219000,5,3,21,1,"FRAS1",1,140,"同义",13203,"0.3619=38/105",null,80144,"4q21.21","NM_025074",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12140",48,48,1,{"$nulls":3},"A有","32630A","FREM1","chr9:14851617","c.829-12A>G(exon7)","非编码区","rs2818940",0.77,0.95,0.96,0.94,0.96,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"三角头畸形2型","AD",614485,5,1,8,3,"FREM1",1,150,"非编码区",16202,"1.0000=52/52",null,158326,"9p22.3","NM_144966",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12165",233,110,0.47,{"$nulls":3},"A有","32630A","FRG1","chr4:190876195","c.321C>T(exon5)","p.I107I","rs7684300",0.29,0.31,0.32,0.31,0.5,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"FRG1",1,410,"同义",13203,"0.4844=124/256",null,2483,"4q35","NM_004477",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12236",2,2,1,{"$nulls":3},"A有","32630A","FRG2C","chr3:75715784","c.*592G>A(exon4)","非编码区","rs202087401",{"$nulls":4},0.5,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,59,0,"FRG2C",1,1000,"非编码区",14300,"1.0000=2/2",null,100288801,"3p12.3","NM_001124759",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v12315",109,109,1,{"$nulls":3},"A有","32630A","FSHB","chr11:30255185","c.228C>T(exon3)","p.Y76Y","rs6169",0.61,0.68,0.67,0.68,0.67,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17227474;18603647;20734064","孤立型滤泡刺激激素缺乏症","AR",229070,5,1,1,1,"FSHB",1,96,"同义",13203,"1.0000=125/125",null,2488,"11p13","NM_000510",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12354",88,49,0.56,{"$nulls":3},"A有","32630A","FTSJD1","chr16:71319539","c.285G>A(exon3)","p.A95A","rs3826247",0.46,0.25,0.21,0.29,0.31,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"FTSJD1",1,110,"同义",13203,"0.5638=53/94",null,55783,"16q22.2","NM_018348",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12382",55,16,0.29,{"$nulls":3},"A有","32630A","FUT5","chr19:5866816","c.921C>T(exon2)","p.D307D","rs28541500",0.82,0.86,0.86,0.86,0.46,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"FUT5",1,92,"同义",13203,"0.2656=17/64",null,2527,"19p13.3","NM_002034",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12408",191,82,0.43,{"$nulls":3},"A有","32630A","FYB","chr5:39108322","c.2467+11T>C(exon18)","非编码区","rs430630",0.86,0.81,0.8,0.83,0.84,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FYB",1,160,"非编码区",16203,"0.4455=98/220",null,2533,"5p13.1","NM_001465",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12463",26,16,0.62,{"$nulls":3},"A有","32630A","GABARAPL1","chr12:10365574","c.-155C>G(exon1)","非编码区","rs2302486",0.42,0.65,0.67,0.63,0.65,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GABARAPL1",1,120,"非编码区",14200,"0.6333=19/30",null,23710,"12p13.2","NM_031412",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12498",140,66,0.47,{"$nulls":3},"A有","32630A","GABRR1","chr6:89926962","c.80A>G(exon1)","p.H27R","rs1186902",0.23,0.29,0.3,0.29,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20820800,{"$nulls":3},5,null,5,0,"GABRR1",1,160,"非同义",12220,"0.4351=67/154",null,2569,"6q15","NM_001256703",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12528",141,141,1,{"$nulls":3},"A有","32630A","GALC","chr14:88407734","c.1834+5C>G(exon15)","非编码区","rs448805",0.94,0.93,0.92,0.95,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"(Krabbe)球形脑白质营养不良","AR",245200,5,1,9,1,"GALC",0.99,180,"非编码区",16202,"1.0000=167/167",null,2581,"14q31","NM_000153",null,"rs448805|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12558",65,65,1,{"$nulls":3},"A有","32630A","GALNT2","chr1:230415148","c.1660G>A(exon16)","p.V554M","rs2273970",0.11,0.32,0.28,0.37,0.36,0.32,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GALNT2",1,120,"非同义",12220,"1.0000=68/68",null,2590,"1q41-q42","NM_004481",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12618",22,22,1,{"$nulls":3},"A有","32630A","GATA2","chr3:128205860","c.15C>G(exon3)","p.P5P","rs1573858",0.71,0.69,0.7,0.69,0.7,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"免疫缺陷21型/单核树突细胞,B淋巴细胞和自然杀伤淋巴细胞缺陷症","AD",614172,5,1,2,4,"GATA2",1,58,"同义",13203,"1.0000=22/22",null,2624,"3q21.3","NM_001145661",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12643",140,140,1,{"$nulls":3},"A有","32630A","GBE1","chr3:81643167","c.1000A>G(exon8)","p.I334V","rs2172397",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"糖原累积症IV型/Andersen病","AR",232500,5,1,6,2,"GBE1",1,220,"非同义",12230,"1.0000=164/164",null,2632,"3p12.3","NM_000158",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12658",13,6,0.46,{"$nulls":3},"A有","32630A","GBP3","chr1:89473175","c.*232A>G(exon11)","非编码区","rs1409150",0.6,0.59,0.59,0.6,0.57,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"GBP3",1,180,"非编码区",14200,"0.4615=6/13",null,2635,"1p22.2","NM_018284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12719",35,10,0.29,{"$nulls":3},"A有","32630A","GCNT1","chr9:79117751","c.454A>G(exon3)","p.I152V","rs2282683",0.24,0.19,0.22,0.15,0.22,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GCNT1",1,110,"非同义",12220,"0.2778=10/36",null,2650,"9q13","NM_001097634",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12753",11,11,1,{"$nulls":3},"A有","32630A","GDF1","chr19:18981235","c.-119G>T(exon7)","非编码区","rs11667388",1,1,1,1,0.99,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"心脏圆锥动脉干畸形","AR",217095,5,1,1,4,"GDF1",0.67,14,"非编码区",14200,"1.0000=12/12",null,2657,"19p12","NM_001492",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12779",82,82,1,{"$nulls":3},"A有","32630A","GEMIN5","chr5:154268902","c.4338G>A(exon27)","p.A1446A","rs816739",0.95,0.99,0.98,0.99,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"GEMIN5",1,140,"同义",13203,"1.0000=93/93",null,25929,"5q33.2","NM_015465",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12781",52,27,0.52,{"$nulls":3},"A有","32630A","GEMIN5","chr5:154275786","c.3463C>T(exon24)","p.P1155S","rs6865950",0.12,0.055,0.048,0.063,0.063,0.049,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"GEMIN5",1,140,"非同义",12220,"0.5283=28/53",null,25929,"5q33.2","NM_015465",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12842",120,47,0.39,{"$nulls":3},"A有","32630A","GGNBP2","chr17:34935670","c.846-5T>C(exon8)","非编码区","rs78359440",0.015,0.062,0.052,0.073,0.057,0.069,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,2,0,"GGNBP2",1,160,"非编码区",16102,"0.3919=58/148",null,79893,"17q12","NM_024835",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12873",134,40,0.3,{"$nulls":3},"A有","32630A","GGT1","chr22:25024076","c.1365G>A(exon14)","p.P455P","rs369713123",0.0004,0.0048,0.0095,0,0.41,7.6E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,24,0,"GGT1",1,140,"同义",13103,"0.2975=47/158",null,2678,"22q11.23","NM_005265",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12932",8,4,0.5,{"$nulls":3},"A有","32630A","GIT1","chr17:27901537-27901538","c.*182(exon21)_c.*183(exon21)insT","非编码区","rs35948647",0.22,0.12,0.12,0.11,0.08,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GIT1",0.99,59,"非编码区",2420,"0.5556=5/9",null,28964,"17p11.2","NM_001085454",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v12950",53,28,0.53,{"$nulls":3},"A有","32630A","GJB2","chr13:20763642","c.79G>A(exon2)","p.V27I","rs2274084",0.072,0.31,0.28,0.35,0.35,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","9529365;11493200;19719946;10983956;11494963","常染色体隐性遗传耳聋1A型","AR",220290,5,3,3,7,"GJB2",1,86,"非同义",12220,"0.5088=29/57",null,2706,"13q11-q12","NM_004004","VAL27ILE|\"Deafness\"|11493200","VAL27ILE|Benign;Likely benign;Uncertain significance|OMIM:220290|NA|criteria provided, conflicting interpretations|PubMed:9529365",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12976",89,89,1,{"$nulls":3},"A有","32630A","GLB1","chr3:33138549","c.29C>T(exon1)","p.P10L","rs7637099",0.43,0.48,0.43,0.54,0.51,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;15791924","GM1神经节苷脂贮积病1型","AR",230500,5,1,4,4,"GLB1",1,120,"非同义",11200,"1.0000=99/99",null,2720,"3p21.33","NM_000404","PRO10LEU|\"Gangliosidosis_GM1\"|15791924","PRO10LEU|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,"PRO10LEU|GM1-gangliosidosis 1 (GM1G1) [MIM:230500]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v12992",23,23,1,{"$nulls":3},"A有","32630A","GLI1","chr12:57865928","c.*84A>C(exon12)","非编码区","rs474058",null,1,1,1,1,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"GLI1",1,65,"非编码区",14300,"1.0000=27/27",null,2735,"12q13.2-q13.3","NM_005269",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13018",18,18,1,{"$nulls":3},"A有","32630A","GLRA1","chr5:151304306","c.-196C>T(exon1)","非编码区","rs2071221",0.42,0.55,0.5,0.6,0.57,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性过度惊吓症1型","AD,AR",149400,5,1,1,1,"GLRA1",1,140,"非编码区",14200,"1.0000=21/21",null,2741,"5q32","NM_001146040",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13079",42,41,0.98,{"$nulls":3},"A有","32630A","GLYAT","chr11:58478026","c.*33C>T(exon5)","非编码区","rs675423",0.67,0.57,0.53,0.61,0.56,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GLYAT",1,160,"非编码区",14200,"0.9811=52/53",null,10249,"11q12.1","NM_005838",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13101",124,124,1,{"$nulls":3},"A有","32630A","GMNN","chr6:24780892","c.53A>C(exon3)","p.N18T","rs1923185",0.21,0.52,0.55,0.5,0.53,0.53,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GMNN",1,210,"非同义",12220,"1.0000=140/140",null,51053,"6p22.3","NM_015895",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13152",101,101,1,{"$nulls":3},"A有","32630A","GNL2","chr1:38049552","c.570-18G>C(exon6)","非编码区","rs6426024",0.73,0.97,0.99,0.94,0.95,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GNL2",1,140,"非编码区",16202,"1.0000=118/118",null,29889,"1p34.3","NM_013285",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13157",47,47,1,{"$nulls":3},"A有","32630A","GNLY","chr2:85925680","c.383-7T>G(exon6)","非编码区","rs4240202",0.46,0.61,0.61,0.61,0.57,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"GNLY",1,89,"非编码区",16202,"1.0000=52/52",null,10578,"2p11.2","NM_012483",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13215",10,10,1,{"$nulls":3},"A有","32630A","GOLGA6L6","chr15:20739885","c.1865A>G(exon8)","p.Q622R","rs57050697",0.89,0.96,0.96,0.96,0.84,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"GOLGA6L6",0.97,48,"非同义",12220,"1.0000=11/11",null,727832,"15q11.2","NM_001145004",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13260",49,49,1,{"$nulls":3},"A有","32630A","GOSR2","chr17:45000547","c.-12G>C(exon1)","非编码区","rs183199",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","进行性肌阵挛性癫痫6型","AR",614018,5,1,6,1,"GOSR2",1,120,"非编码区",14200,"1.0000=53/53",null,9570,"17q21","NM_004287",null,"rs183199|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13322",117,64,0.55,{"$nulls":3},"A有","32630A","GPC6","chr13:95034763","c.1248G>A(exon7)","p.T416T","rs2274020",0.16,0.29,0.31,0.26,0.26,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肩骨异形成症I型","AR",258315,5,3,2,1,"GPC6",1,150,"同义",13203,"0.5252=73/139",null,10082,"13q32","NM_005708",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13348",32,15,0.47,{"$nulls":3},"A有","32630A","GPR108","chr19:6731304","c.1351-11C>T(exon16)","非编码区","rs2279626",0.35,0.47,0.47,0.48,0.4,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"GPR108",1,62,"非编码区",16202,"0.4595=17/37",null,56927,"19p13.3","NM_001080452",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13412",73,73,1,{"$nulls":3},"A有","32630A","GPR139","chr16:20043330","c.789A>G(exon2)","p.V263V","rs2147865",0.52,0.78,0.77,0.79,0.77,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GPR139",1,85,"同义",13203,"1.0000=81/81",null,124274,"16p12.3","NM_001002911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13443",19,13,0.68,{"$nulls":3},"A有","32630A","GPR161","chr1:168074145","c.17-13C>T(exon3)","非编码区","rs6427119",0.29,0.18,0.17,0.19,0.2,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GPR161",0.91,82,"非编码区",16202,"0.6500=13/20",null,23432,"1q24.2","NM_001267609",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13475",73,32,0.44,{"$nulls":3},"A有","32630A","GPR39","chr2:133174999","c.384A>G(exon1)","p.T128T","rs2241763",0.39,0.25,0.25,0.25,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GPR39",1,69,"同义",13203,"0.4198=34/81",null,2863,"2q21-q22","NM_001508",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13499",6,6,1,{"$nulls":3},"A有","32630A","GPR83","chr11:94113071","c.*244G>A(exon4)","非编码区","rs3740866",0.098,0.082,0.081,0.083,0.04,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GPR83",1,88,"非编码区",14200,"1.0000=6/6",null,10888,"11q21","NM_016540",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13524",216,105,0.49,{"$nulls":3},"A有","32630A","GPR98","chr5:90151589","c.17626G>A(exon82)","p.V5876I","rs2247870",0.46,0.58,0.61,0.55,0.58,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"尤塞氏综合症IIC型","AR",605472,5,3,19,2,"GPR98",1,190,"非同义",12220,"0.4940=123/249",null,84059,"5q13","NM_032119",null,"rs2247870|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13576",16,6,0.38,{"$nulls":3},"A有","32630A","GPS1","chr17:80014861","c.1509+11T>G(exon12)","非编码区","rs4969484",0.59,0.3,0.27,0.33,0.28,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GPS1",1,57,"非编码区",16203,"0.3810=8/21",null,2873,"17q25.3","NM_212492",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13606",95,50,0.53,{"$nulls":3},"A有","32630A","GRAMD2","chr15:72462255","c.67G>A(exon2)","p.A23T","rs34815962",0.011,0.022,0.019,0.024,0.036,0.026,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"GRAMD2",1,110,"非同义",12120,"0.5607=60/107",null,196996,"15q23","NM_001012642",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13667",75,75,1,{"$nulls":3},"A有","32630A","GRIP1","chr12:66786073","c.2308+15T>C(exon18)","非编码区","rs7970076",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Fraser综合征","AR",219000,5,1,4,1,"GRIP1",1,160,"非编码区",16203,"1.0000=83/83",null,23426,"12q14.3","NM_021150",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13676",54,54,1,{"$nulls":3},"A有","32630A","GRIP2","chr3:14555216","c.1596A>G(exon14)","p.A532A","rs4685171",0.66,0.8,0.76,0.83,0.77,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"GRIP2",1,73,"同义",13203,"1.0000=62/62",null,80852,"3p24-p23","NM_001080423",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13722",11,6,0.55,{"$nulls":3},"A有","32630A","GRTP1","chr13:114018380","c.-14G>T(exon1)","非编码区","rs372270778",0.0004,0.0024,0,0.0049,0.015,0.016,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"GRTP1",1,94,"非编码区",14100,"0.5385=7/13",null,79774,"13q34","NM_024719",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13751",29,17,0.59,{"$nulls":3},"A有","32630A","GSS","chr20:33533736","c.275+20T>G(exon3)","非编码区","rs734111",0.66,0.45,0.49,0.41,null,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16909399,"焦谷氨酸尿症（5-氧代脯氨酸尿症）/谷胱甘肽合成酶缺陷症","AR",266130,5,3,1,2,"GSS",1,90,"非编码区",16203,"0.6000=18/30",null,2937,"20q11.2","NM_000178",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13822",7,7,1,{"$nulls":3},"A有","32630A","GTPBP4","chr10:1063447","c.*280A>G(exon17)","非编码区","rs2387219",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GTPBP4",1,170,"非编码区",14200,"1.0000=7/7",null,23560,"10p15-p14","NM_012341",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13844",20,7,0.35,{"$nulls":3},"A有","32630A","GUCY2D","chr17:7907189","c.741C>T(exon3)","p.H247H","rs3829789",0.11,0.23,0.25,0.2,0.22,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"视锥-视杆细胞营养不良6型","AD",601777,5,1,3,2,"GUCY2D",1,52,"同义",13203,"0.3043=7/23",null,3000,"17p13.1","NM_000180",null,"rs3829789|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13869",19,19,1,{"$nulls":3},"A有","32630A","GYS2","chr12:21689736","c.*152C>T(exon16)","非编码区","rs936",0.53,0.72,0.74,0.7,0.72,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"糖原累积症0型(肝)","AR",240600,5,1,5,1,"GYS2",1,210,"非编码区",14200,"1.0000=21/21",null,2998,"12p12.2","NM_021957",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13934",37,16,0.43,{"$nulls":3},"A有","32630A","HAP1","chr17:39890715","c.172T>A(exon1)","p.S58T","rs4796603",0.77,0.87,0.9,0.84,0.86,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"HAP1",1,59,"非同义",12220,"0.4500=18/40",null,9001,"17q21.2-q21.3","NM_177977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13962",33,33,1,{"$nulls":3},"A有","32630A","HBA2","chr16:223706","c.*107A>G(exon3)","非编码区","rs2541640",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",12217813,"血红蛋白H病",null,613978,5,1,1,3,"HBA2",1,82,"非编码区",14200,"1.0000=40/40",null,3040,"16p13.3","NM_000517",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v13976",10,5,0.5,{"$nulls":3},"A有","32630A","HCAR2","chr12:123186458","c.*281A>G(exon1)","非编码区","rs582856",0.25,0.49,0.45,0.53,0.55,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"HCAR2",1,130,"非编码区",14200,"0.5455=6/11",null,338442,"12q24.31","NM_177551",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14023",50,23,0.46,{"$nulls":3},"A有","32630A","HDAC10","chr22:50688348","c.435T>C(exon5)","p.C145C","rs1555048",0.87,0.88,0.86,0.9,0.88,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20471694,{"$nulls":3},5,null,9,0,"HDAC10",1,47,"同义",13203,"0.4423=23/52",null,83933,"22q13.31","NM_032019",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14070",236,236,1,{"$nulls":3},"A有","32630A","HEATR5B","chr2:37306343","c.258C>T(exon3)","p.F86F","rs6743906",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"HEATR5B",1,180,"同义",13203,"1.0000=276/276",null,54497,"2p22.2","NM_019024",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14100",148,65,0.44,{"$nulls":3},"A有","32630A","HECTD1","chr14:31647241","c.360C>T(exon3)","p.A120A","rs2274201",0.56,0.42,0.44,0.4,0.4,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17357082,{"$nulls":3},5,null,6,0,"HECTD1",1,150,"同义",13203,"0.4655=81/174",null,25831,"14q12","NM_015382",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14167",55,55,1,{"$nulls":3},"A有","32630A","HEPACAM","chr11:124793682","c.652A>G(exon3)","p.M218V","rs10790715",0.79,0.9,0.91,0.88,0.89,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18710563,"巨颅伴皮层下海绵样囊肿性脑白质病2B","AD",613926,5,1,2,2,"HEPACAM",1,62,"非同义",12220,"1.0000=69/69",null,220296,"11q24.2","NM_152722",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14177",93,47,0.51,{"$nulls":3},"A有","32630A","HERC2","chr15:28412872","c.10515C>T(exon68)","p.A3505A","rs61756152",0.17,0.29,0.29,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"皮肤/头发/眼睛色素沉着1型","AR",227220,5,3,10,2,"HERC2",0.99,140,"同义",13203,"0.5091=56/110",null,8924,"15q13","NM_004667",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14210",16,16,1,{"$nulls":3},"A有","32630A","HEYL","chr1:40092089","c.*90A>G(exon5)","非编码区","rs2695320",null,1,1,1,1,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"HEYL",1,68,"非编码区",14300,"1.0000=16/16",null,26508,"1p34.3","NM_014571",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14238",37,18,0.49,{"$nulls":3},"A有","32630A","HGS","chr17:79668552","c.2238C>T(exon22)","p.G746G","rs34897798",0.09,0.19,0.2,0.19,0.22,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"HGS",1,60,"同义",13203,"0.5349=23/43",null,9146,"17q25","NM_004712",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14306",45,22,0.49,{"$nulls":3},"A有","32630A","HIST1H1T","chr6:26108282","c.40G>C(exon1)","p.V14L","rs198844",0.41,0.27,0.27,0.27,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20587610,{"$nulls":3},5,null,2,0,"HIST1H1T",1,91,"非同义",12220,"0.4792=23/48",null,3010,"6p21.3","NM_005323",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14338",87,40,0.46,{"$nulls":3},"A有","32630A","HIVEP1","chr6:12122773","c.2745T>C(exon4)","p.T915T","rs2228211",0.26,0.54,0.54,0.53,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"HIVEP1",1,110,"同义",13203,"0.4851=49/101",null,3096,"6p24-p22.3","NM_002114",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14358",137,137,1,{"$nulls":3},"A有","32630A","HK1","chr10:71060634","c.27+17G>A(exon5)","非编码区","rs906221",0.91,1,1,1,0.96,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恰克-马利-杜斯氏症4G型/Russe型运动感觉性神经病（脱髓鞘型）","AR",605285,5,1,4,2,"HK1",1,120,"非编码区",16203,"1.0000=158/158",null,3098,"10q22","NM_033500",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14424",35,16,0.46,{"$nulls":3},"A有","32630A","HNF1A","chr12:121416622","c.51C>G(exon1)","p.L17L","rs1169289",0.43,0.38,0.37,0.39,0.39,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非乳头状肾细胞癌",null,144700,5,2,7,6,"HNF1A",1,70,"同义",13203,"0.4444=20/45",null,6927,"12q24.2","NM_000545",null,"rs1169289|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14429",21,21,1,{"$nulls":3},"A有","32630A","HNF1A","chr12:121437382","c.1720A>G(exon9)","p.S574G","rs1169305",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24728327;10096793","非乳头状肾细胞癌",null,144700,5,1,7,6,"HNF1A",1,70,"非同义",12230,"1.0000=21/21",null,6927,"12q24.2","NM_000545","rs1169305|\"Diabetes_type_2_association_with\"|10096793","rs1169305|not provided|OMIM:600496|NA|no assertion provided|PubMed:24728327",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14454",253,154,0.61,{"$nulls":3},"A有","32630A","HNRNPCL1","chr1:12907885","c.258A>G(exon2)","p.A86A","rs848418",0.91,0.79,0.78,0.8,0.5,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"HNRNPCL1",1,220,"同义",13203,"0.6219=176/283",null,343069,"1p36.21","NM_001013631",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14509",47,47,1,{"$nulls":3},"A有","32630A","HPN","chr19:35557260","c.*69T>G(exon13)","非编码区","rs1042328",0.53,0.68,0.69,0.67,0.71,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"HPN",1,69,"非编码区",14200,"1.0000=52/52",null,3249,"19q11-q13.2","NM_182983",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14581",69,28,0.41,{"$nulls":3},"A有","32630A","HR","chr8:21980352","c.1956C>T(exon7)","p.A652A","rs78939934",0.0062,0.017,0.0048,0.029,0.019,0.032,"杂合","未知","预测范围之外的同义突变",null,"稀毛症4型/MarieUnna遗传性稀毛症1型","AD",146550,4,1,6,3,"HR",1,53,"同义",13103,"0.3867=29/75",null,55806,"8p21.2","NM_005144",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14552",72,23,0.32,{"$nulls":3},"A有","32630A","HRNR","chr1:152187554","c.6551G>A(exon3)","p.S2184N","rs61814935",{"$nulls":4},0.26,0.48,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,31,0,"HRNR",1,780,"非同义",12320,"0.3333=32/96",null,388697,"1q21.3","NM_001009931",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14615",42,19,0.45,{"$nulls":3},"A有","32630A","HSD17B11","chr4:88312293","c.-71T>A(exon1)","非编码区","rs28654511",0.41,0.36,0.35,0.36,0.37,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"HSD17B11",1,200,"非编码区",14200,"0.4419=19/43",null,51170,"4q22.1","NM_016245",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14650",10,3,0.3,{"$nulls":3},"A有","32630A","HSPA12B","chr20:3732225","c.1473G>A(exon13)","p.E491E","rs60858447",0.1,0.14,0.14,0.15,0.084,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"HSPA12B",1,48,"同义",13203,"0.2727=3/11",null,116835,"20p13","NM_052970",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14676",2,2,1,{"$nulls":3},"A有","32630A","HSPB7","chr1:16344664","c.-206C>T(exon1)","非编码区","rs872222",0.44,0.69,0.69,0.68,null,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"HSPB7",1,65,"非编码区",14200,"1.0000=2/2",null,27129,"1p36.23-p34.3","NM_014424",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14692",72,34,0.47,{"$nulls":3},"A有","32630A","HSPG2","chr1:22216574","c.474G>T(exon6)","p.G158G","rs2254358",0.44,0.35,0.34,0.36,0.38,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Silverman-Handmaker综合征","AR",224410,5,3,17,2,"HSPG2",1,66,"同义",13203,"0.4805=37/77",null,3339,"1p36.1-p34","NM_005529",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14750",11,7,0.64,{"$nulls":3},"A有","32630A","HUNK","chr21:33371655","c.*158G>A(exon11)","非编码区","rs2070373",0.63,0.66,0.67,0.64,0.61,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"HUNK",1,99,"非编码区",14200,"0.6667=8/12",null,30811,"21q22.1","NM_014586",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14786",74,39,0.53,{"$nulls":3},"A有","32630A","HYDIN","chr16:70954513","c.7766A>G(exon46)","p.K2589R","rs1774395",{"$nulls":4},0.5,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"原发性纤毛运动障碍5型","AR",608647,3,3,80,1,"HYDIN",1,300,"非同义",12320,"0.5455=42/77",null,54768,"16q22.2","NM_001270974",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14805",164,79,0.48,{"$nulls":3},"A有","32630A","HYDIN","chr16:71008169","c.4944A>G(exon33)","p.L1648L","rs1774293",{"$nulls":4},0.5,null,"杂合","未知","预测范围之外的同义突变",null,"原发性纤毛运动障碍5型","AR",608647,4,3,80,1,"HYDIN",1,300,"同义",13303,"0.4863=89/183",null,54768,"16q22.2","NM_001270974",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14876",180,100,0.56,{"$nulls":3},"A有","32630A","IFI16","chr1:158986477","c.536G>C(exon4)","p.S179T","rs866484",0.64,0.61,0.58,0.65,0.68,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"IFI16",1,250,"非同义",12220,"0.5708=121/212",null,3428,"1q22","NM_005531",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14902",98,98,1,{"$nulls":3},"A有","32630A","IFIT2","chr10:91066460","c.747T>A(exon2)","p.V249V","rs954439",0.68,0.87,0.91,0.83,0.87,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,3,0,"IFIT2",1,150,"同义",13203,"1.0000=111/111",null,3433,"10q23.31","NM_001547",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v14945",12,12,1,{"$nulls":3},"A有","32630A","IFNAR1","chr21:34697264","c.-97T>C(exon1)","非编码区","rs2850015",0.81,0.73,0.77,0.7,0.68,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17125879;25445652",{"$nulls":3},5,null,2,0,"IFNAR1",1,230,"非编码区",14200,"1.0000=12/12",null,3454,"21q22.11","NM_000629","rs2850015|\"Increased_expression\"|17125879",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v15031",92,38,0.41,{"$nulls":3},"A有","32630A","IGSF11","chr3:118645118","c.422-15T>C(exon6)","非编码区","rs9848979",0.39,0.25,0.27,0.23,0.24,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"IGSF11",1,160,"非编码区",16202,"0.4000=40/100",null,152404,"3q13.32","NM_152538",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v15131",216,106,0.49,{"$nulls":3},"A有","32630A","IL15","chr4:142640637","c.12+8A>G(exon3)","非编码区","rs2857261",0.5,0.48,0.52,0.44,0.51,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19356949;24415300;24762213",{"$nulls":3},5,null,3,0,"IL15",0.94,220,"非编码区",16203,"0.4920=123/250",null,3600,"4q31","NM_000585",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v15155",16,9,0.56,{"$nulls":3},"A有","32630A","IL17REL","chr22:50439194","c.208G>A(exon5)","p.G70R","rs9617090",0.27,0.33,0.35,0.3,0.33,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"IL17REL",1,45,"非同义",12220,"0.6000=12/20",null,400935,"22q13.33","NM_001001694",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v15945",22,11,0.5,{"$nulls":3},"A有","32630A","KCNH1","chr1:210857457","c.2136T>C(exon11)","p.D712D","rs1135317",0.74,0.67,0.63,0.7,0.62,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Temple-Baraitser综合征","AR",611816,5,3,2,1,"KCNH1",1,120,"同义",13203,"0.4783=11/23",null,3756,"1q32.2","NM_172362",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v16697",30,11,0.37,{"$nulls":3},"A有","32630A","KLHL14","chr18:30349691","c.864G>A(exon2)","p.P288P","rs17851892",0.33,0.39,0.44,0.34,0.39,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"KLHL14",1,110,"同义",13203,"0.3438=11/32",null,57565,"18q12.1","NM_020805",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v16856",171,87,0.51,{"$nulls":3},"A有","32630A","KNTC1","chr12:123087442","c.4884+8A>G(exon47)","非编码区","rs7307735",0.8,0.82,0.83,0.81,0.84,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KNTC1",1,190,"非编码区",16203,"0.5126=102/199",null,9735,"12q24.31","NM_014708",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v17454",8,6,0.75,{"$nulls":3},"A有","32630A","LAMA2","chr6:129837681-129837683","c.*189(exon65)_c.*191(exon65)delAAT","非编码区","rs371188338",0.71,0.69,0.7,0.67,0.071,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"merosin缺乏性先天性肌肉萎缩症","AR",607855,5,3,15,1,"LAMA2",1,180,"非编码区",2420,"0.7000=7/10",null,3908,"6q22-q23","NM_000426",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17507",94,94,1,{"$nulls":3},"A有","32630A","LAMB1","chr7:107564542","c.5225-10C>A(exon34)","非编码区","rs3213674",0.5,0.55,0.54,0.56,0.81,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"无脑回畸形5型","AR",615191,5,1,5,1,"LAMB1",1,130,"非编码区",16202,"1.0000=110/110",null,3912,"7q22","NM_002291",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17527",49,49,1,{"$nulls":3},"A有","32630A","LAMC1","chr1:183094547","c.2663T>C(exon15)","p.L888P","rs20558",0.53,0.59,0.63,0.55,0.56,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15980532;20223449;22321639;22342894",{"$nulls":3},5,null,12,0,"LAMC1",1,130,"非同义",12220,"1.0000=57/57",null,3915,"1q31","NM_002293",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17573",86,86,1,{"$nulls":3},"A有","32630A","LARGE","chr22:34022284","c.435C>T(exon5)","p.A145A","rs86487",0.41,0.55,0.56,0.54,0.55,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"肌营养不良-抗肌萎缩相关糖蛋白病（先天性伴有智力低下）B型6","AR",608840,5,1,1,2,"LARGE",1,100,"同义",13203,"1.0000=89/89",null,9215,"22q12.3","NM_004737",null,"rs86487|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17619",93,93,1,{"$nulls":3},"A有","32630A","LBR","chr1:225607144","c.461G>A(exon5)","p.S154N","rs2230419",0.71,0.97,0.97,0.97,0.95,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"中性粒细胞核分叶减少症","AD",169400,5,1,3,3,"LBR",1,230,"非同义",12220,"1.0000=103/103",null,3930,"1q42.1","NM_002296",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17643",38,21,0.55,{"$nulls":3},"A有","32630A","LCN15","chr9:139656706","c.454T>G(exon5)","p.S152A","rs2297723",0.73,0.88,0.89,0.86,0.86,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LCN15",1,64,"非同义",12220,"0.5250=21/40",null,389812,"9q34.3","NM_203347",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17666",31,17,0.55,{"$nulls":3},"A有","32630A","LDHAL6A","chr11:18478112-18478113","c.-116(exon1)_c.-115(exon1)insAG","非编码区","rs3839960",0.36,0.25,0.26,0.24,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LDHAL6A",1,190,"非编码区",2420,"0.5625=18/32",null,160287,"11p15.1","NM_144972",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17740",116,116,1,{"$nulls":3},"A有","32630A","LEPR","chr1:66036501","c.370+16G>T(exon4)","非编码区","rs2186248",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肥胖","AR",614963,5,1,8,1,"LEPR",0.96,190,"非编码区",16203,"1.0000=132/132",null,3953,"1p31","NM_001003679",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17766",147,147,1,{"$nulls":3},"A有","32630A","LGI2","chr4:25005193","c.1518C>T(exon8)","p.Y506Y","rs2232028",0.77,0.97,0.97,0.98,0.95,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LGI2",1,130,"同义",13203,"1.0000=171/171",null,55203,"4p15.2","NM_018176",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17796",40,17,0.42,{"$nulls":3},"A有","32630A","LHB","chr19:49519873","c.114C>G(exon2)","p.V38V","rs6521",0.49,0.35,0.34,0.35,0.3,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18439297,{"$nulls":3},5,null,6,0,"LHB",1,95,"同义",13203,"0.4082=20/49",null,3972,"19q13.32","NM_000894",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17824",122,47,0.39,{"$nulls":3},"A有","32630A","LILRA1","chr19:55107313","c.871T>C(exon6)","p.Y291H","rs36029771",0.29,0.3,0.27,0.33,0.31,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"LILRA1",1,230,"非同义",12220,"0.4079=62/152",null,11024,"19q13.4","NM_006863",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17859",179,179,1,{"$nulls":3},"A有","32630A","LILRB2","chr19:54783375","c.483A>T(exon5)","p.E161D","rs373032",0.84,0.95,0.94,0.97,0.96,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"LILRB2",1,210,"非同义",12220,"1.0000=208/208",null,10288,"19q13.4","NM_005874",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17920",146,146,1,{"$nulls":3},"A有","32630A","LIPA","chr10:90984990","c.539-5C>T(exon6)","非编码区","rs2297472",0.32,0.75,0.73,0.76,0.67,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16730122,"wolman病/溶酶体酸性脂肪酶缺乏症","AR",278000,5,1,2,1,"LIPA",1,190,"非编码区",16202,"1.0000=162/162",null,3988,"10q23.2-q23.3","NM_001127605",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v17936",224,224,1,{"$nulls":3},"A有","32630A","LIPJ","chr10:90356598","c.628A>G(exon8)","p.I210V","rs1409136",0.89,0.99,1,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LIPJ",1,250,"非同义",12220,"1.0000=248/248",null,142910,"10q23.31","NM_001010939",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18070",142,59,0.42,{"$nulls":3},"A有","32630A","LOC100996331","chr15:22074697","c.705C>G(exon4)","p.G235G","rs4102552",{"$nulls":4},0.078,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"LOC100996331",1,780,"同义",13303,"0.3966=71/179",null,100996331,"-","XM_003846376",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18283",185,51,0.28,{"$nulls":3},"A有","32630A","LOC440563","chr1:13183533","c.340G>A(exon2)","p.G114S","rs77556803",{"$nulls":4},0.48,0.5,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,14,0,"LOC440563",1,180,"非同义",12320,"0.2607=55/211",null,440563,"1p36.21","NM_001136561",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18319",164,164,1,{"$nulls":3},"A有","32630A","LONRF2","chr2:100915772","c.1277T>C(exon6)","p.L426P","rs4851287",0.77,0.94,0.95,0.94,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"LONRF2",0.85,110,"非同义",12220,"1.0000=172/172",null,164832,"2q11.2","NM_198461",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18351",250,122,0.49,{"$nulls":3},"A有","32630A","LPA","chr6:161026078","c.2945C>T(exon19)","p.A982V","rs139937718",0.0006,0,0,0,0.0041,0.004,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"LPA",1,600,"非同义",12120,"0.4760=139/292",null,4018,"6q26","NM_005577",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18435",65,32,0.49,{"$nulls":3},"A有","32630A","LRP1","chr12:57589659","c.8574C>T(exon54)","p.C2858C","rs1800154",0.39,0.44,0.43,0.46,0.44,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18076107;19105203",{"$nulls":3},5,null,16,0,"LRP1",1,69,"同义",13203,"0.5286=37/70",null,4035,"12q13-q14","NM_002332",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18446",112,112,1,{"$nulls":3},"A有","32630A","LRP2","chr2:170003432","c.12628A>C(exon69)","p.I4210L","rs4667591",0.56,0.45,0.49,0.41,0.42,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17000706,"Donnai-Barrow综合症","AR",222448,5,1,18,1,"LRP2",1,150,"非同义",12220,"1.0000=121/121",null,4036,"2q24-q31","NM_004525","rs4667591|\"Colorectal_cancer_increased_risk_association_with\"|17000706","ILE4210LEU|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18483",10,7,0.7,{"$nulls":3},"A有","32630A","LRP8","chr1:53793511","c.74A>G(exon1)","p.Q25R","rs4926972",0.55,0.46,0.48,0.45,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"心肌梗塞,易感1型",null,608446,5,2,4,1,"LRP8",1,84,"非同义",12220,"0.7273=8/11",null,7804,"1p34","NM_004631",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18515",57,57,1,{"$nulls":3},"A有","32630A","LRRC25","chr19:18502728","c.*69G>T(exon2)","非编码区","rs6512264",0.72,0.7,0.72,0.67,0.64,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LRRC25",1,52,"非编码区",14200,"1.0000=64/64",null,126364,"19p13.11","NM_145256",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18549",58,58,1,{"$nulls":3},"A有","32630A","LRRC48","chr17:17897739","c.711+7T>C(exon8)","非编码区","rs4924832",0.63,0.93,0.94,0.92,0.9,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LRRC48",1,98,"非编码区",16203,"1.0000=65/65",null,83450,"17p11.2","NM_001130090",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18579",9,4,0.44,{"$nulls":3},"A有","32630A","LRRD1","chr7:91794562","c.-46A>G(exon1)","非编码区","rs562232736",0.0002,0.0024,0,0.0049,0.0068,0.0024,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"LRRD1",1,140,"非编码区",14100,"0.3846=5/13",null,401387,"7q21.2","NM_001161528",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18618",41,19,0.46,{"$nulls":3},"A有","32630A","LRRTM1","chr2:80529956","c.989A>G(exon2)","p.N330S","rs6733871",0.37,0.53,0.51,0.55,0.45,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LRRTM1",1,62,"非同义",12220,"0.4889=22/45",null,347730,"2p12","NM_178839",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18667",38,23,0.61,{"$nulls":3},"A有","32630A","LTBP3","chr11:65320709","c.989C>T(exon5)","p.P330L","rs28403592",1E-3,0.0072,0.0048,0.0097,0.0093,0.0079,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"选择性牙齿发育不全6型","AR",613097,3,3,1,1,"LTBP3",1,43,"非同义",12120,"0.5714=24/42",null,4054,"11q13.1","NM_001130144",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18693",8,3,0.38,{"$nulls":3},"A有","32630A","LURAP1L","chr9:12821998","c.*239T>A(exon2)","非编码区","rs141169418",0.009,0.036,0.048,0.024,0.033,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"LURAP1L",1,85,"非编码区",14100,"0.3750=3/8",null,286343,"9p23","NM_203403",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18753",2,2,1,{"$nulls":3},"A有","32630A","LYRM4","chr6:5109119","c.*648A>G(exon4)","非编码区","rs393628",0.9,0.86,0.86,0.86,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷19型","AR",615595,5,1,2,1,"LYRM4",0.8,71,"非编码区",14200,"1.0000=2/2",null,57128,"6p25.1","NM_001164841",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18758",75,30,0.4,{"$nulls":3},"A有","32630A","LYSMD4","chr15:100269635","c.587C>G(exon6)","p.T196S","rs72760587",0.15,0.23,0.26,0.19,0.2,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"LYSMD4",1,110,"非同义",12220,"0.3708=33/89",null,145748,"15q26.3","NM_152449",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18818",17,17,1,{"$nulls":3},"A有","32630A","MAGEA1","chrX:152481928","c.*153A>G(exon3)","非编码区","rs41314147",null,0.43,0.41,0.45,null,null,"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"MAGEA1",1,110,"非编码区",14300,"1.0000=20/20",null,4100,"Xq28","NM_004988",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18835",71,71,1,{"$nulls":3},"A有","32630A","MAGEB18","chrX:26157792","c.690C>T(exon2)","p.A230A","rs5944318",null,0.93,0.94,0.92,0.92,0.94,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"MAGEB18",1,75,"同义",13303,"1.0000=80/80",null,286514,"Xp21.3","NM_173699",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18909",17,11,0.65,{"$nulls":3},"A有","32630A","MAN2B2","chr4:6596476","c.1057+17G>A(exon7)","非编码区","rs2301794",0.29,0.45,0.43,0.48,0.45,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"MAN2B2",1,68,"非编码区",16203,"0.5789=11/19",null,23324,"4p16.1","NM_015274",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18933",6,6,1,{"$nulls":3},"A有","32630A","MAOB","chrX:43741616","c.-71C>G(exon1)","非编码区","rs1181251",null,1,1,1,null,null,"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"MAOB",1,130,"非编码区",14300,"1.0000=8/8",null,4129,"Xp11.23","NM_000898",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v18958",98,51,0.52,{"$nulls":3},"A有","32630A","MAP2K3","chr17:21204192","c.286C>T(exon5)","p.R96W","rs56216806",{"$nulls":4},0.5,0.5,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,49,0,"MAP2K3",1,150,"非同义",12310,"0.5088=58/114",null,5606,"17q11.2","NM_145109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19031",77,40,0.52,{"$nulls":3},"A有","32630A","MAP3K9","chr14:71199452","c.2676C>T(exon12)","p.N892N","rs3829955",0.25,0.34,0.33,0.35,0.36,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MAP3K9",1,96,"同义",13203,"0.5238=44/84",null,4293,"14q24.3-q31","NM_033141",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19058",50,24,0.48,{"$nulls":3},"A有","32630A","MAP7D1","chr1:36643685","c.1591C>A(exon9)","p.R531S","rs12563354",0.053,0.18,0.21,0.15,0.17,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"MAP7D1",1,56,"非同义",12220,"0.4918=30/61",null,55700,"1p34.3","NM_018067",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19092",111,48,0.43,{"$nulls":3},"A有","32630A","MAPK14","chr6:36075219","c.842-13A>C(exon11)","非编码区","rs9470219",0.4,0.23,0.23,0.24,0.25,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MAPK14",1,170,"非编码区",16202,"0.4545=60/132",null,1432,"6p21.3-p21.2","NM_139012",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19149",117,58,0.5,{"$nulls":3},"A有","32630A","MARCH7","chr2:160604452","c.651C>T(exon5)","p.D217D","rs11555185",0.22,0.23,0.27,0.19,0.22,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MARCH7",1,160,"同义",13203,"0.5221=71/136",null,64844,"2q24.2","NM_022826",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19179",21,6,0.29,{"$nulls":3},"A有","32630A","MAST1","chr19:12985576","c.4605A>G(exon26)","p.S1535S","rs11085822",0.44,0.67,0.7,0.64,0.62,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MAST1",1,55,"同义",13203,"0.2692=7/26",null,22983,"19p13.2","NM_014975",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19209",104,44,0.42,{"$nulls":3},"A有","32630A","MASTL","chr10:27475444","c.2619T>C(exon12)","p.T873T","rs10741130",0.51,0.41,0.43,0.39,0.42,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血小板减少症2型","AD",188000,5,1,9,1,"MASTL",1,150,"同义",13203,"0.4474=51/114",null,84930,"10p12.1","NM_001172303",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19267",88,49,0.56,{"$nulls":3},"A有","32630A","MBP","chr18:74692336","c.*47T>C(exon7)","非编码区","rs9199",0.31,0.35,0.33,0.37,0.36,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MBP",1,98,"非编码区",14200,"0.5686=58/102",null,4155,"18q23","NM_001025081",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19274",86,86,1,{"$nulls":3},"A有","32630A","MBTPS2","chrX:21861434","c.222A>G(exon2)","p.Q74Q","rs3213451",null,0.55,0.58,0.53,0.59,0.61,"半合子","可能相关","MaxEntScan软件预测该突变可能影响剪切","23757202;18660489;19401419","脱发性小棘毛囊角化病","XR",308800,2,1,1,3,"MBTPS2",1,98,"剪切位点",13301,"1.0000=94/94",null,51360,"Xp22.12-p22.11","NM_015884",null,"rs3213451|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["32630A(747)v19311",45,26,0.58,{"$nulls":3},"A有","32630A","MCF2L","chr13:113720476","c.867C>T(exon8)","p.T289T","rs2297192",0.19,0.47,0.46,0.49,0.45,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"MCF2L",0.98,79,"同义",13203,"0.6122=30/49",null,23263,"13q34","NM_024979",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19338",91,51,0.56,{"$nulls":3},"A有","32630A","MCM8","chr20:5943956","c.826G>C(exon8)","p.A276P","rs61752028",0.065,0.26,0.29,0.24,0.2,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MCM8",1,190,"非同义",12220,"0.5657=56/99",null,84515,"20p12.3","NM_182802",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19409",129,129,1,{"$nulls":3},"A有","32630A","MDN1","chr6:90432662","c.5967+12G>A(exon40)","非编码区","rs756363",0.88,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"MDN1",1,140,"非编码区",16203,"1.0000=151/151",null,23195,"6q15","NM_014611",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19434",61,61,1,{"$nulls":3},"A有","32630A","MED14","chrX:40514322","c.3973-10C>T(exon29)","非编码区","rs11266293",null,0.7,0.66,0.74,null,0.69,"半合子","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,1,0,"MED14",1,110,"非编码区",16302,"1.0000=69/69",null,9282,"Xp11.4","NM_004229",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19461",20,20,1,{"$nulls":3},"A有","32630A","MEF2A","chr15:100253121-100253122","c.*145(exon12)_c.*146(exon12)insGTGT","非编码区","rs145618675",null,0.71,0.75,0.67,0.28,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"遗传性冠状动脉疾病1型","AD",608320,3,1,3,1,"MEF2A",1,170,"非编码区",2430,"1.0000=21/21",null,4205,"15q26","NM_001171894",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19519",59,59,1,{"$nulls":3},"A有","32630A","MEPE","chr4:88767008","c.649G>A(exon6)","p.V217I","rs17013285",0.17,0.32,0.33,0.31,0.25,0.26,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MEPE",1,160,"非同义",12220,"1.0000=66/66",null,56955,"4q21.1","NM_001184697",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19541",31,30,0.97,{"$nulls":3},"A有","32630A","METTL21C","chr13:103346806","c.43G>C(exon1)","p.G15R","rs2390760",0.74,0.85,0.84,0.86,0.84,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"METTL21C",1,150,"非同义",12220,"0.9697=32/33",null,196541,"13q33.1","NM_001010977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19580",19,8,0.42,{"$nulls":3},"A有","32630A","MEX3D","chr19:1555551","c.*11A>G(exon2)","非编码区","rs2277752",0.14,0.32,0.31,0.33,0.31,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MEX3D",0.96,17,"非编码区",14200,"0.4000=8/20",null,399664,"19p13.3","NM_203304",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19655",48,28,0.58,{"$nulls":3},"A有","32630A","MGA","chr15:42041712","c.5907G>A(exon17)","p.K1969K","rs2695163",0.7,0.89,0.92,0.85,0.87,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MGA",1,140,"同义",13203,"0.5882=30/51",null,23269,"15q14","NM_001164273",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19664",52,20,0.38,{"$nulls":3},"A有","32630A","MGST1","chr12:16517032","c.*57T>G(exon4)","非编码区","rs1042669",0.18,0.28,0.3,0.25,0.29,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MGST1",0.77,150,"非编码区",14200,"0.3824=26/68",null,4257,"12p12.3-p12.1","NM_001260511",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19726",80,32,0.4,{"$nulls":3},"A有","32630A","MICA","chr6:31379795","c.685A>G(exon4)","p.S229G",null,null,0.29,0.28,0.29,0.28,0.32,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,30,0,"MICA",1,99,"非同义",12420,"0.4194=39/93",null,100507436,"6p21.33","NM_001177519",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19748",127,68,0.54,{"$nulls":3},"A有","32630A","MICB","chr6:31474000","c.406G>A(exon3)","p.D136N",null,null,0.27,0.27,0.27,0.25,0.28,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,7,0,"MICB",1,86,"非同义",12410,"0.5306=78/147",null,4277,"6p21.3","NM_005931",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19790",56,28,0.5,{"$nulls":3},"A有","32630A","MKI67","chr10:129902158","c.7946G>A(exon13)","p.R2649H","rs12777740",0.22,0.25,0.27,0.24,0.27,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,23,0,"MKI67",1,130,"非同义",12220,"0.4915=29/59",null,4288,"10q26.2","NM_002417",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19811",267,131,0.49,{"$nulls":3},"A有","32630A","MKLN1","chr7:131155586","c.1860-15G>C(exon17)","非编码区","rs3213820",0.098,0.19,0.19,0.19,0.21,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MKLN1",1,220,"非编码区",16202,"0.4983=148/297",null,4289,"7q32","NM_001145354",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19835",78,78,1,{"$nulls":3},"A有","32630A","MLKL","chr16:74706298","c.*104T>A(exon11)","非编码区","rs4888274",0.65,0.79,0.79,0.79,0.75,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MLKL",1,94,"非编码区",14200,"1.0000=90/90",null,197259,"16q23.1","NM_152649",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19896",2,2,1,{"$nulls":3},"A有","32630A","MMAA","chr4:146577657-146577657","c.*1071(exon7)delA","非编码区",{"$nulls":7},"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"甲基丙二酸尿症Cbla型","AR",251100,3,1,1,1,"MMAA",1,200,"非编码区",2440,"1.0000=2/2",null,166785,"4q31.21","NM_172250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19923",40,22,0.55,{"$nulls":3},"A有","32630A","MMP14","chr14:23312554","c.777C>G(exon5)","p.P259P","rs2236302",0.16,0.13,0.17,0.087,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18784838;22527983;24916189","Winchester综合征","AR",277950,5,3,3,1,"MMP14",1,87,"同义",13203,"0.5116=22/43",null,4323,"14q11-q12","NM_004995",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v19948",100,99,0.99,{"$nulls":3},"A有","32630A","MMP28","chr17:34100350-34100351","c.437(exon4)_c.438(exon4)insG","p.L146Lfs*376","rs58543174",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MMP28",1,70,"移码",2120,"0.9836=120/122",null,79148,"17q21.1","NM_024302",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20024",49,24,0.49,{"$nulls":3},"A有","32630A","MORC2","chr22:31337950","c.440A>G(exon9)","p.N147S","rs76273991",0.0088,0.084,0.038,0.13,0.097,0.034,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"MORC2",1,89,"非同义",12120,"0.5000=28/56",null,22880,"22q12.2","NM_014941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20054",172,82,0.48,{"$nulls":3},"A有","32630A","MPC2","chr1:167893759","c.126C>T(exon3)","p.F42F","rs9618",0.41,0.19,0.18,0.21,0.21,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23933155,{"$nulls":3},5,null,2,0,"MPC2",1,180,"同义",13203,"0.4691=91/194",null,25874,"1q24","NM_001143674",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20093",173,89,0.51,{"$nulls":3},"A有","32630A","MPP4","chr2:202512449","c.1684G>A(exon21)","p.V562I","rs11894115",0.18,0.42,0.4,0.44,0.41,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MPP4",1,150,"非同义",12220,"0.5102=100/196",null,58538,"2q33.2","NM_033066",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20150",110,110,1,{"$nulls":3},"A有","32630A","MRO","chr18:48331524","c.429C>T(exon5)","p.D143D","rs2586776",0.45,0.36,0.36,0.37,0.38,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MRO",1,140,"剪切位点",13201,"1.0000=126/126",null,83876,"18q21","NM_031939",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20180",3,3,1,{"$nulls":3},"A有","32630A","MRPL30","chr2:99813614","c.*1446T>C(exon6)","非编码区","rs13798",0.63,0.88,0.87,0.89,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MRPL30",1,280,"非编码区",14200,"1.0000=3/3",null,51263,"2q11.2","NM_145212",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v20268",96,48,0.5,{"$nulls":3},"A有","32630A","MS4A4A","chr11:60070176","c.475A>G(exon6)","p.M159V","rs6591561",0.33,0.38,0.37,0.39,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MS4A4A",1,170,"非同义",12220,"0.5189=55/106",null,51338,"11q12","NM_024021",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20300",74,38,0.51,{"$nulls":3},"A有","32630A","MSH6","chr2:48030838","c.3438+14A>T(exon5)","非编码区","rs2020911",0.4,0.63,0.59,0.68,0.65,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;16847180;20386703","错配修复肿瘤综合征（Lynch综合征）","AR",276300,5,3,2,3,"MSH6",1,130,"非编码区",16203,"0.5119=43/84",null,2956,"2p16","NM_000179",null,"rs2020911|Benign|NA|NA|reviewed by expert panel|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20316",3,3,1,{"$nulls":3},"A有","32630A","MSR1","chr8:15998145","c.*366A>G(exon9)","非编码区","rs12718376",0.51,0.46,0.45,0.47,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"巴雷特氏食管",null,614266,5,1,6,2,"MSR1",1,180,"非编码区",14200,"1.0000=3/3",null,4481,"8p22","NM_002445",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20344",5,5,1,{"$nulls":3},"A有","32630A","MTA3","chr2:42795719","c.-167A>C(exon1)","非编码区","rs62142669",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MTA3",1,180,"非编码区",14200,"1.0000=5/5",null,57504,"2p21","NM_020744",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20400",156,155,0.99,{"$nulls":3},"A有","32630A","MTMR9","chr8:11162496","c.564A>C(exon4)","p.L188L","rs2164272",0.4,0.71,0.7,0.72,0.73,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MTMR9",1,140,"同义",13203,"0.9942=170/171",null,66036,"8p23-p22","NM_015458",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20412",56,14,0.25,{"$nulls":3},"A有","32630A","MTRF1L","chr6:153323594","c.227G>A(exon1)","p.R76Q","rs3818123",{"$nulls":4},0.53,0.55,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"MTRF1L",1,160,"非同义",12320,"0.2727=18/66",null,54516,"6q25-q26","NM_019041",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20554",53,53,1,{"$nulls":3},"A有","32630A","MTUS1","chr8:17611886","c.1431C>T(exon2)","p.P477P","rs2979788",0.67,0.62,0.61,0.63,0.66,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"MTUS1",1,140,"同义",13203,"1.0000=60/60",null,57509,"8p22","NM_001001924",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20626",127,54,0.43,{"$nulls":3},"A有","32630A","MUC16","chr19:9001822","c.40417+9T>C(exon53)","非编码区","rs12976111",0.6,0.62,0.63,0.61,0.64,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,78,0,"MUC16",1,160,"非编码区",16203,"0.4276=62/145",null,94025,"19p13.2","NM_024690",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20629",247,64,0.26,{"$nulls":3},"A有","32630A","MUC16","chr19:9002493","c.40315+8A>G(exon51)","非编码区","rs77972891",{"$nulls":4},0.5,0.5,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,78,0,"MUC16",1,160,"非编码区",16303,"0.2674=77/288",null,94025,"19p13.2","NM_024690",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20681",78,41,0.53,{"$nulls":3},"A有","32630A","MUC16","chr19:9086819","c.4996C>T(exon1)","p.L1666L","rs1823056",0.19,0.3,0.3,0.3,0.32,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,78,0,"MUC16",1,160,"同义",13203,"0.5104=49/96",null,94025,"19p13.2","NM_024690",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20751",152,79,0.52,{"$nulls":3},"A有","32630A","MUC17","chr7:100693849","c.12807C>T(exon7)","p.T4269T","rs6978780",0.1,0.034,0.024,0.044,0.037,0.026,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,63,0,"MUC17",1,280,"同义",13203,"0.5140=92/179",null,140453,"7q22.1","NM_001040105",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20760",68,24,0.35,{"$nulls":3},"A有","32630A","MUC20","chr3:195452689","c.597C>T(exon2)","p.D199D","rs141077164",{"$nulls":4},0.49,0.51,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,20,0,"MUC20",1,150,"同义",13303,"0.3472=25/72",null,200958,"3q29","NM_001098516",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20818",144,38,0.26,{"$nulls":3},"A有","32630A","MUC4","chr3:195506037","c.12414C>A(exon2)","p.S4138S","rs147066573",{"$nulls":4},0.48,0.77,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,69,0,"MUC4",1,280,"同义",13303,"0.2744=45/164",null,4585,"3q29","NM_018406",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20885",32,15,0.47,{"$nulls":3},"A有","32630A","MUC5B","chr11:1253856","c.1939-18T>C(exon17)","非编码区","rs1318321",0.55,0.67,0.7,0.65,0.51,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,5,1,47,1,"MUC5B",1,150,"非编码区",16202,"0.4848=16/33",null,727897,"11p15.5","NM_002458",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20919",146,63,0.43,{"$nulls":3},"A有","32630A","MUC5B","chr11:1271321","c.13211C>G(exon31)","p.A4404G","rs2943517",0.45,0.65,0.67,0.63,0.58,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,5,1,47,1,"MUC5B",1,150,"非同义",12220,"0.4317=79/183",null,727897,"11p15.5","NM_002458",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20945",664,159,0.24,{"$nulls":3},"A有","32630A","MUC6","chr11:1016991","c.5810A>C(exon31)","p.N1937T","rs74788171",0.0004,0,0,0,0.49,0.47,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,79,0,"MUC6",1,350,"非同义",12120,"0.2531=183/723",null,4588,"11p15.5","NM_005961",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v20976",477,302,0.63,{"$nulls":3},"A有","32630A","MUC6","chr11:1018025","c.4776G>T(exon31)","p.T1592T","rs10751677",{"$nulls":4},0.49,0.35,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,79,0,"MUC6",1,350,"同义",13303,"0.6241=342/548",null,4588,"11p15.5","NM_005961",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21048",50,30,0.6,{"$nulls":3},"A有","32630A","MYBBP1A","chr17:4443756","c.3321G>A(exon25)","p.V1107V","rs74822499",0.01,0.055,0.067,0.044,0.05,0.05,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"MYBBP1A",1,58,"同义",13103,"0.5893=33/56",null,10514,"17p13.3","NM_014520",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21066",130,55,0.42,{"$nulls":3},"A有","32630A","MYBPHL","chr1:109836842","c.*19G>C(exon8)","非编码区","rs646335",0.52,0.55,0.55,0.55,0.55,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"MYBPHL",1,98,"非编码区",14200,"0.4236=61/144",null,343263,"1p13.3","NM_001010985",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21097",23,21,0.91,{"$nulls":3},"A有","32630A","MYH11","chr16:15811023","c.5499G>A(exon39)","p.L1833L","rs1050163",0.4,0.28,0.3,0.27,0.3,0.31,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性胸主动脉瘤4型","AD",132900,5,1,3,1,"MYH11",1,55,"同义",13203,"0.8462=22/26",null,4629,"16p13.11","NM_001040113",null,"rs1050163|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21145",211,211,1,{"$nulls":3},"A有","32630A","MYH4","chr17:10362746","c.1417-8T>C(exon15)","非编码区","rs2058099",0.53,0.88,0.9,0.85,0.89,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17903302,{"$nulls":3},5,null,6,0,"MYH4",1,210,"非编码区",16202,"1.0000=253/253",null,4622,"17p13.1","NM_017533",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21148",71,30,0.42,{"$nulls":3},"A有","32630A","MYH6","chr14:23865885","c.2292+18C>T(exon19)","非编码区","rs452036",0.37,0.18,0.17,0.18,0.19,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20639392;23183192;24846176","扩张型心肌病1EE型 ",null,613252,5,2,4,4,"MYH6",1,92,"非编码区",16203,"0.4321=35/81",null,4624,"14q12","NM_002471",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21167",37,12,0.32,{"$nulls":3},"A有","32630A","MYH9","chr22:36684354","c.4876A>G(exon34)","p.I1626V","rs2269529",0.29,0.6,0.64,0.55,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;18716610;19891592;20124285","May-Hegglin异常/出血性疾病，血小板6型","AD",155100,5,1,7,6,"MYH9",1,67,"非同义",12220,"0.3500=14/40",null,4627,"22q13.1","NM_002473",null,"ILE1626VAL|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21211",33,16,0.48,{"$nulls":3},"A有","32630A","MYO15A","chr17:18077175","c.10431T>C(exon65)","p.Y3477Y","rs854800",0.72,0.64,0.67,0.62,0.65,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体隐性遗传耳聋3型","AR",600316,5,3,10,1,"MYO15A",1,63,"同义",13203,"0.4359=17/39",null,51168,"17p11.2","NM_016239",null,"rs854800|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21241",12,12,1,{"$nulls":3},"A有","32630A","MYO1C","chr17:1373612","c.2383G>A(exon24)","p.V795I","rs8081370",0.82,0.5,0.5,0.5,0.51,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MYO1C",1,58,"非同义",12220,"1.0000=13/13",null,4641,"17p13.3","NM_001080779",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21255",155,82,0.53,{"$nulls":3},"A有","32630A","MYO1H","chr12:109883374","c.3002T>C(exon30)","p.L1001P","rs3825393",0.7,0.51,0.52,0.5,0.52,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MYO1H",1,160,"非同义",12220,"0.5525=100/181",null,283446,"12q24.11","NM_001101421",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21296",116,53,0.46,{"$nulls":3},"A有","32630A","MYO7A","chr11:76853783","c.47T>C(exon3)","p.L16S","rs1052030",0.51,0.47,0.42,0.51,0.49,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;10094549;18776599","尤塞氏综合症I型（IA型和IB型）/Usher综合征","AR",276900,5,3,10,3,"MYO7A",1,79,"非同义",11200,"0.4779=65/136",null,4647,"11q13.5","NM_000260","LEU16STOP|\"Usher_syndrome_1b\"|10094549","LEU16SER|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,"LEU16SER|Usher syndrome 1B (USH1B) [MIM:276900]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21347",155,83,0.54,{"$nulls":3},"A有","32630A","MYOM1","chr18:3075712","c.4685+11G>T(exon35)","非编码区","rs2298539",null,0.52,0.52,0.51,0.51,0.52,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,14,0,"MYOM1",1,150,"非编码区",16303,"0.5341=94/176",null,8736,"18p11.31","NM_003803",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21377",66,40,0.61,{"$nulls":3},"A有","32630A","MYOM3","chr1:24406647","c.2445C>T(exon20)","p.A815A","rs4649175",0.35,0.42,0.41,0.43,0.45,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"MYOM3",1,83,"同义",13203,"0.6000=42/70",null,127294,"1p36.11","NM_152372",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21406",60,60,1,{"$nulls":3},"A有","32630A","MYRIP","chr3:40231883","c.1594C>T(exon10)","p.L532L","rs1317317",0.83,0.85,0.86,0.84,0.84,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MYRIP",1,120,"同义",13203,"1.0000=72/72",null,25924,"3p22.1","NM_015460",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21471",128,128,1,{"$nulls":3},"A有","32630A","NACA","chr12:57108203","c.2307T>C(exon7)","p.I769I","rs4902",null,0.77,0.77,0.78,0.78,0.74,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"NACA",1,130,"同义",13303,"1.0000=144/144",null,4666,"12q23-q24.1","NM_001113203",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21490",219,123,0.56,{"$nulls":3},"A有","32630A","NAF1","chr4:164085425","c.484A>G(exon2)","p.I162V","rs4691896",0.79,0.78,0.78,0.79,0.77,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NAF1",1,180,"非同义",12220,"0.5551=141/254",null,92345,"4q32.2","NM_138386",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21518",14,12,0.86,{"$nulls":3},"A有","32630A","NAPB","chr20:23402152","c.-113G>A(exon1)","非编码区","rs6048794",0.11,0.082,0.086,0.078,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"NAPB",1,140,"非编码区",14200,"0.8125=13/16",null,63908,"20p12.3-p11.21","NM_022080",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21587",18,6,0.33,{"$nulls":3},"A有","32630A","NBEAL2","chr3:47043622","c.4995G>A(exon31)","p.V1665V","rs2305635",0.32,0.33,0.33,0.33,0.3,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"灰色血小板综合征/出血性疾病，血小板4型","AR",139090,5,3,8,1,"NBEAL2",1,54,"同义",13203,"0.3158=6/19",null,23218,"3p21.31","NM_015175",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21596",154,85,0.55,{"$nulls":3},"A有","32630A","NBN","chr8:90958422","c.2016A>G(exon13)","p.P672P","rs1061302",0.35,0.46,0.49,0.44,0.43,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19393077;19523210;20386703;20478923;20571895","急性淋巴细胞白血病（易感）",null,613065,5,2,8,3,"NBN",1,180,"同义",13203,"0.5607=97/173",null,4683,"8q21","NM_002485",null,"rs1061302|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21665",17,9,0.53,{"$nulls":3},"A有","32630A","NBPF1","chr1:16915513","c.324G>C(exon9)","p.Q108H","rs368775000",{"$nulls":4},0.016,0.6,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,30,0,"NBPF1",1,1100,"非同义",12320,"0.5263=10/19",null,55672,"1p36.13","NM_017940",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21697",72,40,0.56,{"$nulls":3},"A有","32630A","NCAPD2","chr12:6638116","c.3483C>T(exon27)","p.N1161N","rs740850",0.34,0.19,0.2,0.18,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18340469,{"$nulls":3},5,null,8,0,"NCAPD2",1,110,"同义",13203,"0.5732=47/82",null,9918,"12p13.3","NM_014865",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21727",2,2,1,{"$nulls":3},"A有","32630A","NCF2","chr1:183524855","c.*398G>T(exon15)","非编码区","rs796860",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"AR遗传慢性肉芽肿病细胞色素B阳性2型","AR",233710,5,1,2,1,"NCF2",1,110,"非编码区",14200,"1.0000=3/3",null,4688,"1q25","NM_000433",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21750",89,89,1,{"$nulls":3},"A有","32630A","NCKAP5","chr2:133542014","c.2370A>G(exon14)","p.A790A","rs12616282",0.71,0.89,0.89,0.89,0.9,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"NCKAP5",1,110,"同义",13203,"1.0000=100/100",null,344148,"2q21.2","NM_207363",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21782",331,83,0.25,{"$nulls":3},"A有","32630A","NCOR1","chr17:16068463","c.448G>A(exon5)","p.G150R","rs74453660",{"$nulls":4},0.11,0.24,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,12,0,"NCOR1",1,160,"非同义",12310,"0.2538=99/390",null,9611,"17p11.2","NM_006311",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21849",88,88,1,{"$nulls":3},"A有","32630A","NDUFAF6","chr8:96070181","c.*16T>C(exon9)","非编码区","rs2678832",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Leigh综合征","AR",256000,5,1,2,1,"NDUFAF6",1,200,"非编码区",14200,"1.0000=106/106",null,137682,"8q22.1","NM_152416",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21882",139,70,0.5,{"$nulls":3},"A有","32630A","NEB","chr2:152499355","c.8189A>G(exon59)","p.D2730G","rs76767949",0.02,0.11,0.1,0.11,0.09,0.092,"杂合","可能相关","Provean软件蛋白结构预测可能有害","CLINVAR数据库","2型杆状体肌病","AR",256030,2,3,22,1,"NEB",1,220,"非同义",12110,"0.5253=83/158",null,4703,"2q22","NM_001271208",null,"ASP2730GLY|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21914",61,61,1,{"$nulls":3},"A有","32630A","NEDD9","chr6:11190626","c.1476T>C(exon6)","p.V492V","rs941982",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"NEDD9",1,88,"同义",13203,"1.0000=80/80",null,4739,"6p25-p24","NM_001142393",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21971",60,59,0.98,{"$nulls":3},"A有","32630A","NEMF","chr14:50319499","c.-28C>A(exon1)","非编码区","rs3100887",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NEMF",1,150,"非编码区",14200,"0.9853=67/68",null,9147,"14q22","NM_004713",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v21997",53,27,0.51,{"$nulls":3},"A有","32630A","NEU2","chr2:233897414","c.33C>A(exon1)","p.S11R","rs2233384",0.048,0.11,0.11,0.11,0.11,0.13,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"NEU2",1,70,"非同义",12120,"0.5484=34/62",null,4759,"2q37","NM_005383",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22019",2,2,1,{"$nulls":3},"A有","32630A","NF2","chr22:29999878","c.-110G>C(exon1)","非编码区","rs1800540",0.87,0.95,0.95,0.95,0.93,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性脑膜瘤，易感","AD",607174,5,1,1,3,"NF2",1,130,"非编码区",14200,"1.0000=2/2",null,4771,"22q12.2","NM_181832",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22063",112,53,0.47,{"$nulls":3},"A有","32630A","NFXL1","chr4:47887991","c.1569C>T(exon13)","p.T523T","rs6818556",0.72,0.72,0.69,0.75,0.69,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NFXL1",1,190,"同义",13203,"0.4462=58/130",null,152518,"4p12","NM_152995",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22120",41,41,1,{"$nulls":3},"A有","32630A","NIN","chr14:51224658","c.3090A>T(exon18)","p.S1030S","rs2073348",0.32,0.51,0.52,0.49,0.49,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","Seckel综合征7型","AR",614851,5,1,8,1,"NIN",1,99,"同义",13203,"1.0000=44/44",null,51199,"14q22.1","NM_020921",null,"rs2073348|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22144",106,105,0.99,{"$nulls":3},"A有","32630A","NISCH","chr3:52512318","c.1173+20A>G(exon10)","非编码区","rs2109559",0.96,0.98,0.99,0.98,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"NISCH",1,59,"非编码区",16203,"0.9921=126/127",null,11188,"3p21.1","NM_007184",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22170",6,6,1,{"$nulls":3},"A有","32630A","NKX2-2","chr20:21492549","c.*12A>G(exon2)","非编码区","rs572080499",0.0002,0.0024,0,0.0049,null,0.00086,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"NKX2-2",1,47,"非编码区",14100,"1.0000=7/7",null,4821,"20p11.22","NM_002509",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22230",108,108,1,{"$nulls":3},"A有","32630A","NLRP2","chr19:55512137","c.3060C>A(exon13)","p.I1020I","rs12768",0.55,0.71,0.67,0.75,0.71,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23360675,{"$nulls":3},5,null,3,0,"NLRP2",1,110,"同义",13203,"1.0000=119/119",null,55655,"19q13.42","NM_017852",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22246",20,9,0.45,{"$nulls":3},"A有","32630A","NLRP6","chr11:280221","c.487A>C(exon4)","p.M163L","rs6421985",0.72,0.3,0.31,0.29,0.28,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NLRP6",1,27,"非同义",12230,"0.4348=10/23",null,171389,"11p15","NM_138329",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22279",143,82,0.57,{"$nulls":3},"A有","32630A","NME8","chr7:37936530","c.1603T>C(exon17)","p.L535L","rs3213975",0.21,0.25,0.23,0.28,0.25,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"原发性纤毛运动障碍6型（伴或不伴内脏异位）","AR",610852,5,3,7,1,"NME8",1,230,"同义",13203,"0.5862=102/174",null,51314,"7p14.1","NM_016616",null,"rs3213975|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22350",48,48,1,{"$nulls":3},"A有","32630A","NOM1","chr7:156762446","c.*49G>T(exon11)","非编码区","rs3087905",0.46,0.26,0.24,0.29,0.27,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NOM1",1,110,"非编码区",14200,"1.0000=52/52",null,64434,"7q36.3","NM_138400",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22377",62,32,0.52,{"$nulls":3},"A有","32630A","NOS2","chr17:26092631","c.2358T>C(exon20)","p.G786G","rs1060822",0.73,0.67,0.6,0.73,0.7,0.7,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19624767;21481004","疟疾,易感",null,611162,5,2,6,2,"NOS2",1,96,"同义",13203,"0.5152=34/66",null,4843,"17q11.2-q12","NM_000625",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22394",20,20,1,{"$nulls":3},"A有","32630A","NOTCH1","chr9:139391636","c.6555C>T(exon34)","p.D2185D","rs2229974",0.7,0.94,0.94,0.95,0.96,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Adams-oliver综合征5型","AD",616028,5,1,8,2,"NOTCH1",1,41,"同义",13203,"1.0000=22/22",null,4851,"9q34.3","NM_017617",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22430",33,12,0.36,{"$nulls":3},"A有","32630A","NPAP1","chr15:24921771","c.757G>C(exon1)","p.G253R","rs1563102",0.27,0.5,0.48,0.52,0.44,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NPAP1",1,69,"非同义",12210,"0.3889=14/36",null,23742,"15q11-q13","NM_018958",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22456",5,4,0.8,{"$nulls":3},"A有","32630A","NPFFR2","chr4:73013798","c.*269A>C(exon4)","非编码区","rs983345",0.34,0.47,0.47,0.47,0.67,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NPFFR2",1,120,"非编码区",14200,"0.8000=4/5",null,10886,"4q21","NM_004885",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22477",110,61,0.55,{"$nulls":3},"A有","32630A","NPLOC4","chr17:79596811","c.36G>A(exon2)","p.P12P","rs9894429",0.67,0.81,0.81,0.81,0.75,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20463881,{"$nulls":3},5,null,4,0,"NPLOC4",1,110,"同义",13203,"0.5354=68/127",null,55666,"17qter","NM_017921",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22524",34,34,1,{"$nulls":3},"A有","32630A","NR2E3","chr15:72105929-72105929","c.951(exon6)delC","p.T318Rfs*?","rs398027866",1,1,1,1,0.55,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"增强S视锥综合征","AR",268100,5,1,2,2,"NR2E3",1,56,"移码",2120,"1.0000=36/36",null,10002,"15q22.32","NM_016346",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v22559",111,111,1,{"$nulls":3},"A有","32630A","NRCAM","chr7:107834624","c.1631-9A>G(exon17)","非编码区","rs6978315",0.7,0.88,0.88,0.89,0.89,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"NRCAM",1,190,"非编码区",16202,"1.0000=124/124",null,4897,"7q31","NM_001193582",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22589",192,192,1,{"$nulls":3},"A有","32630A","NRP1","chr10:33552695","c.537G>A(exon4)","p.V179V","rs2070296",0.28,0.47,0.48,0.47,0.5,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NRP1",1,150,"同义",13203,"1.0000=223/223",null,8829,"10p12","NM_003873",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22608",34,34,1,{"$nulls":3},"A有","32630A","NSFL1C","chr20:1424303","c.*91C>T(exon10)","非编码区","rs6891",0.48,0.82,0.81,0.83,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NSFL1C",0.99,96,"非编码区",14200,"1.0000=40/40",null,55968,"20p13","NM_001206736",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22675",90,37,0.41,{"$nulls":3},"A有","32630A","NTNG2","chr9:135105944","c.1031-15G>A(exon5)","非编码区","rs2274855",0.21,0.45,0.46,0.44,0.41,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NTNG2",1,49,"非编码区",16202,"0.4200=42/100",null,84628,"9q34","NM_032536",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22702",6,4,0.67,{"$nulls":3},"A有","32630A","NUCKS1","chr1:205684067","c.*3341A>G(exon7)","非编码区","rs10900522",0.23,0.32,0.3,0.33,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"NUCKS1",1,150,"非编码区",14200,"0.5714=4/7",null,64710,"1q32.1","NM_022731",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22728",209,208,1,{"$nulls":3},"A有","32630A","NUF2","chr1:163306523","c.338-18T>G(exon6)","非编码区","rs57753183",0.032,0.024,0.029,0.019,0.035,0.035,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"NUF2",1,300,"非编码区",16102,"0.9960=252/253",null,83540,"1q23.3","NM_145697",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22799",74,74,1,{"$nulls":3},"A有","32630A","NUP85","chr17:73231818-73231818","c.*44(exon19)delT","非编码区","rs397841704",0.89,0.94,0.93,0.94,0.062,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NUP85",1,99,"非编码区",2420,"1.0000=84/84",null,79902,"17q25.1","NM_024844",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v22832",7,7,1,{"$nulls":3},"A有","32630A","NXPH4","chr12:57610617-57610625","c.-136(exon1)_c.-128(exon1)delCCGCCGCTC","非编码区","rs549105121",0.94,1,1,1,0.029,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NXPH4",1,29,"非编码区",2420,"1.0000=11/11",null,11247,"12q13.3","NM_007224",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22854",83,83,1,{"$nulls":3},"A有","32630A","OAS2","chr12:113435450","c.753A>T(exon4)","p.V251V","rs1293755",0.88,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"OAS2",1,120,"同义",13203,"1.0000=89/89",null,4939,"12q24.2","NM_002535",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22920",38,21,0.55,{"$nulls":3},"A有","32630A","ODC1","chr2:10585302","c.-39A>G(exon2)","非编码区","rs2302613",0.12,0.2,0.19,0.21,0.2,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"结肠癌","AD",114500,5,1,3,1,"ODC1",1,110,"非编码区",14200,"0.5581=24/43",null,4953,"2p25","NM_002539",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22944",8,8,1,{"$nulls":3},"A有","32630A","OGDHL","chr10:50943068","c.*206A>G(exon23)","非编码区","rs13736",null,0.88,0.86,0.91,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"OGDHL",1,81,"非编码区",14300,"1.0000=8/8",null,55753,"10q11.23","NM_018245",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v22976",12,12,1,{"$nulls":3},"A有","32630A","OLR1","chr12:10312289","c.*190C>T(exon6)","非编码区","rs1050283",0.32,0.25,0.27,0.23,0.24,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","12807963;18384690;20615707;20682755;21709374","心肌梗塞,易感1型",null,608446,5,1,4,1,"OLR1",1,160,"非编码区",14200,"1.0000=14/14",null,4973,"12p13.2-p12.3","NM_002543","rs1050283|\"Alzheimer_disease_reduced_risk_association_with\"|12807963",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23016",129,129,1,{"$nulls":3},"A有","32630A","OR10A6","chr11:7949791","c.419T>G(exon1)","p.V140G","rs7933807",0.41,0.48,0.47,0.48,0.5,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR10A6",1,150,"非同义",12210,"1.0000=136/136",null,390093,"11p15.4","NM_001004461",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23062",34,17,0.5,{"$nulls":3},"A有","32630A","OR10P1","chr12:56031273","c.598G>A(exon1)","p.V200M","rs7970885",0.27,0.27,0.26,0.27,0.29,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR10P1",1,43,"非同义",12220,"0.5000=17/34",null,121130,"12q13.2","NM_206899",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23093",66,32,0.48,{"$nulls":3},"A有","32630A","OR11H6","chr14:20692188","c.320T>C(exon1)","p.I107T","rs12891553",0.39,0.21,0.22,0.2,0.21,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OR11H6",1,86,"非同义",12220,"0.4658=34/73",null,122748,"14q11.2","NM_001004480",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23126",153,150,0.98,{"$nulls":3},"A有","32630A","OR13C5","chr9:107361490","c.205T>A(exon1)","p.L69M","rs7042502",0.66,0.93,0.92,0.94,0.5,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"OR13C5",1,260,"非同义",12220,"0.9833=177/180",null,138799,"9q31.1","NM_001004482",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23197",156,156,1,{"$nulls":3},"A有","32630A","OR1L6","chr9:125512193","c.67C>A(exon1)","p.Q23K","rs10760252",0.91,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"OR1L6",1,150,"非同义",12220,"1.0000=182/182",null,392390,"9q33.2","NM_001004453",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23222",158,158,1,{"$nulls":3},"A有","32630A","OR1S1","chr11:57982584","c.368T>C(exon1)","p.I123T","rs1966835",0.52,0.78,0.8,0.77,0.76,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"OR1S1",1,190,"非同义",12210,"1.0000=183/183",null,219959,"11q12.1","NM_001004458",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23248",44,19,0.43,{"$nulls":3},"A有","32630A","OR2B11","chr1:247614896","c.389T>G(exon1)","p.I130S","rs11583410",0.37,0.48,0.5,0.47,0.5,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24316890,{"$nulls":3},5,null,4,0,"OR2B11",1,130,"非同义",12210,"0.4483=26/58",null,127623,"1q44","NM_001004492","ILE130SER|\"Altered_receptor_function\"|24316890",{"$nulls":3},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23319",120,116,0.97,{"$nulls":3},"A有","32630A","OR2T12","chr1:248458676","c.205A>G(exon1)","p.M69V","rs6678138",{"$nulls":4},0.63,0.28,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"OR2T12",1,270,"非同义",12320,"0.9580=137/143",null,127064,"1q44","NM_001004692",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23358",168,49,0.29,{"$nulls":3},"A有","32630A","OR2T4","chr1:248525291","c.409G>C(exon1)","p.V137L","rs28540568",0.27,0.44,0.44,0.44,0.41,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"OR2T4",1,230,"非同义",12220,"0.2872=54/188",null,127074,"1q44","NM_001004696",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23376",27,17,0.63,{"$nulls":3},"A有","32630A","OR2T8","chr1:248084627","c.308C>T(exon1)","p.P103L","rs61857490",0.58,0.52,0.58,0.46,0.4,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"OR2T8",1,200,"非同义",12220,"0.5862=17/29",null,343172,"1q44","NM_001005522",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23447",97,40,0.41,{"$nulls":3},"A有","32630A","OR4C3","chr11:48347342","c.850G>A(exon1)","p.V284M","rs76958755",{"$nulls":4},0.5,0.46,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"OR4C3",1,150,"非同义",12320,"0.4000=44/110",null,256144,"11p11.2","NM_001004702",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23477",82,82,1,{"$nulls":3},"A有","32630A","OR4L1","chr14:20528359","c.156G>T(exon1)","p.R52S","rs1959630",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"OR4L1",1,110,"非同义",12220,"1.0000=90/90",null,122742,"14q11.2","NM_001004717",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23493",110,53,0.48,{"$nulls":3},"A有","32630A","OR4N4","chr15:22382821","c.349G>C(exon1)","p.V117L","rs12438969",{"$nulls":4},0.17,0.21,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,7,0,"OR4N4",1,140,"非同义",12320,"0.5161=64/124",null,283694,"15q11.2","NM_001005241",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23532",65,64,0.98,{"$nulls":3},"A有","32630A","OR51Q1","chr11:5444353","c.923T>C(exon1)","p.F308S","rs2647573",0.45,0.73,0.75,0.7,0.7,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"OR51Q1",1,68,"非同义",12220,"0.9857=69/70",null,390061,"11p15.4","NM_001004757",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23600",42,26,0.62,{"$nulls":3},"A有","32630A","OR5B2","chr11:58190747","c.-13T>C(exon1)","非编码区","rs1893902",0.22,0.16,0.14,0.18,0.18,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"OR5B2",1,110,"非编码区",14200,"0.6250=30/48",null,390190,"11q12.1","NM_001005566",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23630",146,72,0.49,{"$nulls":3},"A有","32630A","OR5H2","chr3:98002419","c.688A>G(exon1)","p.I230V","rs16839214",0.16,0.25,0.23,0.27,0.26,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR5H2",1,120,"非同义",12220,"0.4907=79/161",null,79310,"3q12.1","NM_001005482",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23660",108,45,0.42,{"$nulls":3},"A有","32630A","OR5R1","chr11:56185327","c.382A>G(exon1)","p.S128G","rs7933772",0.28,0.12,0.12,0.12,0.12,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"OR5R1",1,160,"非同义",12220,"0.4310=50/116",null,219479,"11q12.1","NM_001004744",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23695",135,135,1,{"$nulls":3},"A有","32630A","OR6C76","chr12:55820121","c.84C>T(exon1)","p.F28F","rs6581046",0.71,0.94,0.95,0.92,0.91,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR6C76",1,85,"同义",13203,"1.0000=151/151",null,390326,"12q13.2","NM_001005183",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23761",135,75,0.56,{"$nulls":3},"A有","32630A","OR8B4","chr11:124294349","c.419G>T(exon1)","p.C140F","rs7116575",0.16,0.2,0.19,0.22,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR8B4",1,140,"非同义",12210,"0.5584=86/154",null,283162,"11q24.2","NM_001005196",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23787",229,229,1,{"$nulls":3},"A有","32630A","OR8J1","chr11:56128081","c.359A>G(exon1)","p.Y120C","rs10896290",0.22,0.14,0.14,0.14,0.14,0.12,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR8J1",1,210,"非同义",12210,"1.0000=263/263",null,219477,"11q12.1","NM_001005205",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23858",58,11,0.19,{"$nulls":3},"A有","32630A","OR8U1","chr11:56143767","c.668C>T(exon1)","p.S223F","rs79705206",{"$nulls":4},0.23,0.38,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,78,0,"OR8U1",1,150,"非同义",12320,"0.2121=14/66",null,219417,"11q12.1","NM_001005204",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23902",169,45,0.27,{"$nulls":3},"A有","32630A","OR9G1","chr11:56468646","c.783C>T(exon1)","p.P261P","rs78493274",{"$nulls":4},0.45,0.48,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,30,0,"OR9G1",1,180,"同义",13303,"0.2798=54/193",null,390174,"11q12.1","NM_001005213",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23916",8,8,1,{"$nulls":3},"A有","32630A","ORAI1","chr12:122064774-122064779","c.127(exon1)_c.132(exon1)delCCGCCA","p.P43_P44del","rs531278468",null,1,1,1,0.33,null,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","CLINVAR数据库","T细胞失活性免疫障碍1型","AR",612782,3,1,3,2,"ORAI1",1,26,"非移码",2232,"1.0000=9/9",null,84876,"12q24.31","NM_032790",null,"rs531278468|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v23943",128,128,1,{"$nulls":3},"A有","32630A","OSBPL3","chr7:24854765","c.2085C>T(exon19)","p.S695S","rs1044956",0.38,0.75,0.78,0.71,0.75,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OSBPL3",1,160,"同义",13203,"1.0000=150/150",null,26031,"7p15","NM_015550",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v24014",119,65,0.55,{"$nulls":3},"A有","32630A","OTUD3","chr1:20233051","c.962A>G(exon7)","p.N321S","rs2298110",0.032,0.029,0.029,0.029,0.035,0.027,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"OTUD3",1,120,"非同义",12120,"0.5420=71/131",null,23252,"1p36.13","NM_015207",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v24034",283,135,0.48,{"$nulls":3},"A有","32630A","OVCH2","chr11:7727886","c.56G>A(exon1)","p.R19Q","rs7927138",0.4,0.41,0.39,0.43,0.43,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"OVCH2",0.97,150,"非同义",12220,"0.4743=157/331",null,341277,"11p15.4","NM_198185",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v24077",6,4,0.67,{"$nulls":3},"A有","32630A","OXR1","chr8:107763462","c.*293C>G(exon17)","非编码区","rs28924705",0.018,0.026,0.024,0.029,0.017,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"OXR1",0.97,200,"非编码区",14100,"0.6667=4/6",null,55074,"8q23","NM_001198533",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v24144",77,12,0.16,{"$nulls":3},"A有","32630A","PABPC1","chr8:101719004","c.1477C>T(exon11)","p.R493C","rs62513924",{"$nulls":4},0.34,0.34,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,30,0,"PABPC1",1,170,"非同义",12320,"0.1932=17/88",null,26986,"8q22.2-q23","NM_002568",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v24174",213,75,0.35,{"$nulls":3},"A有","32630A","PABPC3","chr13:25671210","c.874C>T(exon1)","p.Q292X,340","rs80062522",{"$nulls":4},0.32,0.00023,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,42,0,"PABPC3",1,220,"截断",15300,"0.3696=95/257",null,5042,"13q12-q13","NM_030979",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v24204",47,19,0.4,{"$nulls":3},"A有","32630A","PADI2","chr1:17395521","c.*18C>T(exon16)","非编码区","rs2076598",0.44,0.43,0.46,0.41,0.45,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"PADI2",1,85,"非编码区",14200,"0.4364=24/55",null,11240,"1p36.13","NM_007365",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v24264",80,45,0.56,{"$nulls":3},"A有","32630A","PALM2-AKAP2","chr9:112900785","c.2961A>G(exon8)","p.S987S","rs3739456",0.33,0.65,0.67,0.63,0.66,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PALM2-AKAP2",0,0,"同义",13203,"0.5422=45/83",null,445815,"9q31.3","NM_007203",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v25651",103,46,0.45,{"$nulls":3},"A有","32630A","PLA2G7","chr6:46672453-46672456","c.1190-23(exon12)_c.1190-20(exon12)delGATT","非编码区","rs148052037",0.27,0.58,0.55,0.61,0.46,0.57,"杂合","未知","内含子突变",null,"IgE反应,遗传性过敏症","AD",147050,4,1,3,3,"PLA2G7",1,210,"非编码区",2500,"0.4609=53/115",null,7941,"6p21.2-p12","NM_005084",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v25661",9,9,1,{"$nulls":3},"A有","32630A","PLA2R1","chr2:160919041-160919041","c.-127(exon1)delG","非编码区","rs11285500",{"$nulls":4},0,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,8,0,"PLA2R1",1,180,"非编码区",2430,"1.0000=9/9",null,22925,"2q23-q24","NM_007366",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v25720",38,38,1,{"$nulls":3},"A有","32630A","PLCH2","chr1:2422614","c.1516-17G>A(exon11)","非编码区","rs2477699",0.75,0.92,0.92,0.93,0.93,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PLCH2",1,49,"非编码区",16202,"1.0000=43/43",null,9651,"1p36.32","NM_014638",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v25742",34,22,0.65,{"$nulls":3},"A有","32630A","PLEC","chr8:145007225","c.1884G>A(exon14)","p.R628R",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",null,"单纯性大疱性表皮松解与幽门闭锁","AR",612138,4,3,4,4,"PLEC",1,34,"同义",13403,"0.5789=22/38",null,5339,"8q24","NM_201380",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v25780",114,57,0.5,{"$nulls":3},"A有","32630A","PLEKHG4B","chr5:181730","c.3436C>G(exon17)","p.R1146G","rs12519352",0.33,0.22,0.22,0.22,0.25,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"PLEKHG4B",1,62,"非同义",12220,"0.5000=65/130",null,153478,"5p15.33","NM_052909",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v25787",49,26,0.53,{"$nulls":3},"A有","32630A","PLEKHG5","chr1:6579653","c.-82C>G(exon1)","非编码区","rs41278014",0.17,0.18,0.19,0.17,0.16,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恰克-马利-杜斯氏症，隐性中间C型","AR",615376,5,3,4,2,"PLEKHG5",0.96,43,"非编码区",14200,"0.5200=26/50",null,57449,"1p36.31","NM_198681",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v25860",83,38,0.46,{"$nulls":3},"A有","32630A","PLK2","chr5:57750350","c.*60G>C(exon14)","非编码区","rs15009",0.45,0.6,0.55,0.65,0.63,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PLK2",1,140,"非编码区",14200,"0.4194=39/93",null,10769,"5q12.1-q13.2","NM_006622",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v25886",50,50,1,{"$nulls":3},"A有","32630A","PLXDC2","chr10:20105936","c.-73T>C(exon1)","非编码区","rs989767",0.7,0.55,0.56,0.53,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PLXDC2",1,190,"非编码区",14200,"1.0000=56/56",null,84898,"10p12.31","NM_032812",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v25966",99,46,0.46,{"$nulls":3},"A有","32630A","PNLDC1","chr6:160224346","c.215+4T>C(exon4)","非编码区","rs2146163",0.76,0.57,0.57,0.56,0.6,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PNLDC1",1,110,"非编码区",16202,"0.4486=48/107",null,154197,"6q25.3","NM_173516",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v26125",134,69,0.51,{"$nulls":3},"A有","32630A","POLR1A","chr2:86272758","c.2868C>T(exon20)","p.L956L","rs1561328",0.22,0.21,0.22,0.19,0.21,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"POLR1A",1,120,"同义",13203,"0.5137=75/146",null,25885,"2p11.2","NM_015425",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26186",48,48,1,{"$nulls":3},"A有","32630A","POM121L12","chr7:53103673","c.309C>A(exon1)","p.P103P","rs1184320",0.49,0.59,0.55,0.63,0.61,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"POM121L12",1,58,"同义",13203,"1.0000=50/50",null,285877,"7p12.1","NM_182595",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26205",54,28,0.52,{"$nulls":3},"A有","32630A","POMT2","chr14:77743644","c.*75C>T(exon21)","非编码区","rs1055592",0.27,0.44,0.48,0.41,0.44,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肌营养不良-抗肌萎缩相关糖蛋白病（先天性伴有智力低下）B型2","AR",613156,5,3,6,3,"POMT2",1,130,"非编码区",14200,"0.5231=34/65",null,29954,"14q24","NM_013382",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26240",124,124,1,{"$nulls":3},"A有","32630A","POTED","chr21:14982886","c.337G>A(exon1)","p.G113S","rs6517869",{"$nulls":4},0.82,null,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"POTED",1,640,"非同义",12320,"1.0000=140/140",null,317754,"21q11.2","NM_174981",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v26447",19,8,0.42,{"$nulls":3},"A有","32630A","PPP2R2D","chr10:133769568","c.*101G>A(exon7)","非编码区","rs11146336",0.17,0.34,0.39,0.3,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PPP2R2D",1,130,"非编码区",14200,"0.4091=9/22",null,55844,"10q26.3","NM_018461",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v26535",40,40,1,{"$nulls":3},"A有","32630A","PRAME","chr22:22899364","c.-112T>C(exon2)","非编码区","rs2283799",0.7,0.74,0.73,0.75,0.73,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PRAME",1,98,"非编码区",14200,"1.0000=47/47",null,23532,"22q11.22","NM_206953",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26540",19,19,1,{"$nulls":3},"A有","32630A","PRB1","chr12:11506473","c.564G>C(exon3)","p.K188N","rs61930109",0.57,0.8,0.81,0.79,0.76,0.41,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PRB1",1,270,"非同义",12220,"0.9565=22/23",null,5542,"12p13.2","NM_005039",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26600",24,11,0.46,{"$nulls":3},"A有","32630A","PRELP","chr1:203456098","c.*89T>C(exon3)","非编码区","rs1050083",0.15,0.26,0.26,0.26,0.25,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PRELP",1,62,"非编码区",14200,"0.4815=13/27",null,5549,"1q32","NM_002725",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26628",130,130,1,{"$nulls":3},"A有","32630A","PRG2","chr11:57157405","c.13T>C(exon2)","p.L5L","rs490358",0.75,0.79,0.8,0.77,0.79,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19014520,{"$nulls":3},5,null,3,0,"PRG2",1,76,"同义",13203,"1.0000=148/148",null,5553,"11q12","NM_002728",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26685",62,23,0.37,{"$nulls":3},"A有","32630A","PRKD1","chr14:30066976","c.2167-12T>A(exon16)","非编码区","rs3783299",0.43,0.23,0.2,0.25,0.22,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PRKD1",1,170,"非编码区",16201,"0.3733=28/75",null,5587,"14q11","NM_002742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v26742",13,13,1,{"$nulls":3},"A有","32630A","PROM2","chr2:95944902-95944903","c.1274+10(exon10)_c.1274+11(exon10)insC","非编码区","rs61086044",null,1,1,1,0.52,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"PROM2",1,58,"非编码区",2500,"1.0000=13/13",null,150696,"2q11.1","NM_001165978",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26791",22,12,0.55,{"$nulls":3},"A有","32630A","PRR18","chr6:166721424","c.207G>A(exon1)","p.P69P","rs13205770",0.44,0.64,0.66,0.62,0.55,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PRR18",1,14,"同义",13203,"0.5833=14/24",null,285800,"6q27","NM_175922",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26821",66,25,0.38,{"$nulls":3},"A有","32630A","PRRC2A","chr6:31593369","c.740G>A(exon7)","p.R247H","rs114452424",0.0026,0.014,0.019,0.0097,0.022,0.013,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"PRRC2A",0.65,28,"非同义",12120,"0.3699=27/73",null,7916,"6p21.3","NM_004638",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26855",191,59,0.31,{"$nulls":3},"A有","32630A","PRSS1","chr7:142458451","c.86A>T(exon2)","p.N29I","rs111033566",{"$nulls":4},0.18,0.48,"杂合","较高","该变异在数据库中有疾病相关性报道","9322498;185115;9633818;11719509;11788572","遗传性胰腺炎","AD",167800,1,1,3,2,"PRSS1",1,190,"非同义",11300,"0.3004=70/233",null,5644,"7q34","NM_002769","ASN29ILE|\"Pancreatitis_hereditary\"|9322498","rs111033566|Pathogenic|OMIM:167800|OMIM:276000.0002|criteria provided, single submitter|PubMed:9322498","ASN29ILE|167800|276000.0002.1","ASN29ILE|Pancreatitis, hereditary (PCTT) [MIM:167800]","位于基因组多拷贝区域+DNA结构正常","疑似阳性"]
["32630A(747)v26932",61,20,0.33,{"$nulls":3},"A有","32630A","PRUNE","chr1:150999737","c.708A>G(exon6)","p.K236K","rs11204762",0.28,0.47,0.5,0.43,0.52,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PRUNE",1,110,"同义",13203,"0.3333=24/72",null,58497,"1q21","NM_021222",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26940",50,20,0.4,{"$nulls":3},"A有","32630A","PSAP","chr10:73578882","c.1360-14A>G(exon13)","非编码区","rs4747203",0.41,0.6,0.59,0.61,0.55,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"鞘脂激活蛋白B缺乏导致的异染性脑白质营养不良","AR",249900,5,3,2,4,"PSAP",1,86,"非编码区",16202,"0.4074=22/54",null,5660,"10q21-q22","NM_001042465",null,"rs4747203|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26957",92,49,0.53,{"$nulls":3},"A有","32630A","PSEN1","chr14:73664853","c.868+16G>T(exon8)","非编码区","rs165932",0.67,0.64,0.63,0.65,0.6,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16938285;17719017;18813964;18830724;19017784","扩张型心肌病1U型 ","AD",613694,5,1,1,5,"PSEN1",1,140,"非编码区",16203,"0.5049=52/103",null,5663,"14q24.3","NM_000021",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v26996",53,27,0.51,{"$nulls":3},"A有","32630A","PSG7","chr19:43428725","c.*235C>T(exon5)","非编码区","rs10417214",0.45,0.43,0.42,0.43,0.44,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PSG7",1,390,"非编码区",14200,"0.5085=30/59",null,5676,"19q13.2","NM_001206650",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27052",103,103,1,{"$nulls":3},"A有","32630A","PSMD4","chr1:151239051","c.951T>C(exon9)","p.S317S","rs7489",0.64,0.6,0.57,0.64,0.64,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PSMD4",1,110,"同义",13203,"1.0000=114/114",null,5710,"1q21.3","NM_002810",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27083",87,18,0.21,{"$nulls":3},"A有","32630A","PSPH","chr7:56087292-56087292","c.275+1(exon5)delG","剪切位点","rs139106189",{"$nulls":5},4.3E-3,"杂合","较高","理论上这种经典剪切位点的插入缺失可能导致mRNA的异常剪切",null,"磷酸丝氨酸磷酸酶缺乏症",null,614023,1,2,21,1,"PSPH",1,140,"剪切位点",2330,"0.2174=20/92",null,5723,"7p11.2","NM_004577",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","疑似阳性"]
["32630A(747)v27130",52,24,0.46,{"$nulls":3},"A有","32630A","PTCHD2","chr1:11561593","c.544G>A(exon2)","p.G182S","rs2817580",0.37,0.3,0.28,0.32,0.31,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PTCHD2",1,61,"非同义",12220,"0.4561=26/57",null,57540,"1p36.22","NM_020780",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27147",3,3,1,{"$nulls":3},"A有","32630A","PTEN","chr10:89623716","c.-511G>A(exon1)","非编码区","rs12573787",0.16,0.33,0.31,0.35,0.25,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17033968,"头颈部鳞状细胞癌","AR",275355,5,1,3,11,"PTEN",1,230,"非编码区",14200,"1.0000=3/3",null,5728,"10q23.3","NM_000314",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27157",26,26,1,{"$nulls":3},"A有","32630A","PTGDS","chr9:139872048","c.18A>G(exon1)","p.T6T","rs4880179",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18639233,{"$nulls":3},5,null,3,0,"PTGDS",1,66,"同义",13203,"1.0000=29/29",null,5730,"9q34.2-q34.3","NM_000954",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27183",52,25,0.48,{"$nulls":3},"A有","32630A","PTGS1","chr9:125140696","c.137-16G>C(exon5)","非编码区","rs2282169",0.3,0.11,0.1,0.12,0.11,0.099,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17301694,{"$nulls":3},5,null,3,0,"PTGS1",0.99,80,"非编码区",16202,"0.4746=28/59",null,5742,"9q32-q33.3","NM_001271368",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27244",372,181,0.49,{"$nulls":3},"A有","32630A","PTPRC","chr1:198704294","c.2316C>T(exon23)","p.G772G","rs7540378",0.23,0.26,0.25,0.27,0.24,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16423050,"丙型肝炎病毒易感",null,609532,5,2,3,2,"PTPRC",0.96,210,"同义",13203,"0.4779=216/452",null,5788,"1q31-q32","NM_002838",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27274",87,87,1,{"$nulls":3},"A有","32630A","PTPRH","chr19:55699454","c.2467A>G(exon13)","p.K823E","rs890870",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PTPRH",1,120,"非同义",12220,"1.0000=101/101",null,5794,"19q13.4","NM_002842",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27311",16,9,0.56,{"$nulls":3},"A有","32630A","PTPRS","chr19:5206622","c.*163C>T(exon38)","非编码区","rs4456628",0.051,0.06,0.033,0.087,0.049,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PTPRS",1,68,"非编码区",14200,"0.6111=11/18",null,5802,"19p13.3","NM_002850",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27370",211,210,1,{"$nulls":3},"A有","32630A","PWP2","chr21:45528919","c.73G>A(exon2)","p.D25N","rs2020945",0.57,0.74,0.7,0.78,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PWP2",1,72,"非同义",12210,"0.9918=241/243",null,5822,"21q22.3","NM_005049",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27395",54,26,0.48,{"$nulls":3},"A有","32630A","PYCR2","chr1:226108177","c.941C>G(exon7)","p.A314G","rs117063721",0.0034,0.014,0.014,0.015,0.018,0.021,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"PYCR2",1,45,"非同义",12120,"0.4464=25/56",null,29920,"1q42.12","NM_013328",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27425",127,69,0.54,{"$nulls":3},"A有","32630A","PZP","chr12:9305473","c.4068A>G(exon31)","p.Q1356Q","rs10771357",null,0.89,0.89,0.89,0.87,0.89,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"PZP",1,170,"同义",13303,"0.5329=81/152",null,5858,"12p13-p12.2","NM_002864",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27469",2,2,1,{"$nulls":3},"A有","32630A","QSOX2","chr9:139137626","c.24G>A(exon1)","p.V8V","rs79849109",0.54,0.7,0.7,0.7,0.7,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"QSOX2",1,85,"同义",13203,"1.0000=2/2",null,169714,"9q34.3","NM_181701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27521",37,18,0.49,{"$nulls":3},"A有","32630A","RAB36","chr22:23492236","c.268-14C>T(exon3)","非编码区","rs9612248",0.45,0.56,0.55,0.58,0.58,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"RAB36",1,61,"非编码区",16202,"0.4545=20/44",null,9609,"22q11.22","NM_004914",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27549",174,93,0.53,{"$nulls":3},"A有","32630A","RAB6A","chr11:73388875","c.*68G>T(exon8)","非编码区","rs75464956",0.008,0.058,0.043,0.073,0.051,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"RAB6A",1,230,"非编码区",14100,"0.5567=113/203",null,5870,"11q13.3","NM_198896",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27575",76,75,0.99,{"$nulls":3},"A有","32630A","RABL6","chr9:139726239","c.525A>G(exon6)","p.G175G","rs2811748",0.82,0.76,0.73,0.78,0.75,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RABL6",0.9,66,"同义",13203,"0.9882=84/85",null,55684,"9q34.3","NM_001173988",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27625",240,95,0.4,{"$nulls":3},"A有","32630A","RALGAPA1","chr14:36153177","c.2791A>G(exon20)","p.T931A","rs2274068",0.47,0.61,0.56,0.67,0.56,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RALGAPA1",1,210,"非同义",12220,"0.3891=107/275",null,253959,"14q13.2","NM_014990",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27658",16,6,0.38,{"$nulls":3},"A有","32630A","RAPGEF1","chr9:134585181","c.-111G>A(exon1)","非编码区","rs11243480",0.2,0.21,0.22,0.2,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RAPGEF1",1,90,"非编码区",14200,"0.3889=7/18",null,2889,"9q34.3","NM_198679",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27680",20,6,0.3,{"$nulls":3},"A有","32630A","RAPSN","chr11:47469439","c.456T>C(exon2)","p.Y152Y","rs7111873",0.63,0.64,0.66,0.63,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","胎儿运动不能畸形序列征(Pena-Shokeir综合征I型)","AR",208150,5,3,6,2,"RAPSN",1,50,"同义",13203,"0.3000=6/20",null,5913,"11p11.2","NM_005055",null,"rs7111873|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27750",4,4,1,{"$nulls":3},"A有","32630A","RASSF6","chr4:74438988","c.*2964A>G(exon11)","非编码区","rs9997572",0.74,0.91,0.91,0.91,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RASSF6",0.98,180,"非编码区",14200,"1.0000=4/4",null,166824,"4q13.3","NM_177532",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27775",2,2,1,{"$nulls":3},"A有","32630A","RBBP4","chr1:33147143","c.*1837C>T(exon12)","非编码区","rs360510",0.97,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RBBP4",1,130,"非编码区",14200,"1.0000=3/3",null,5928,"1p35.1","NM_005610",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27801",26,9,0.35,{"$nulls":3},"A有","32630A","RBM19","chr12:114261109","c.2803C>T(exon24)","p.R935W","rs377224995",{"$nulls":5},0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,6,0,"RBM19",1,89,"非同义",12310,"0.3871=12/31",null,9904,"12q24.21","NM_001146699",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27872",162,84,0.52,{"$nulls":3},"A有","32630A","RCN1","chr11:32124978","c.840T>C(exon5)","p.H280H","rs4876",0.48,0.68,0.68,0.69,0.69,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RCN1",1,160,"同义",13203,"0.5108=95/186",null,5954,"11p13","NM_002901",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27898",115,62,0.54,{"$nulls":3},"A有","32630A","RECK","chr9:36087876","c.823G>A(exon9)","p.V275I","rs16932912",0.13,0.34,0.33,0.35,0.33,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21565829,{"$nulls":3},5,null,3,0,"RECK",1,160,"非同义",12220,"0.5420=71/131",null,8434,"9p13.3","NM_021111",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27928",140,140,1,{"$nulls":3},"A有","32630A","REG1B","chr2:79312414","c.434-5C>T(exon6)","非编码区","rs3739144",0.64,0.64,0.63,0.66,0.65,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"REG1B",1,170,"非编码区",16202,"1.0000=166/166",null,5968,"2p12","NM_006507",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27934",5,4,0.8,{"$nulls":3},"A有","32630A","RELA","chr11:65421630","c.*219G>A(exon11)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"RELA",1,63,"非编码区",14400,"0.6667=4/6",null,5970,"11q13","NM_021975",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27979",18,12,0.67,{"$nulls":3},"A有","32630A","RET","chr10:43622368","c.*166T>A(exon19)","非编码区","rs2075913",0.66,0.41,0.42,0.4,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性中枢性肺换气不足综合征","AD",209880,5,1,6,7,"RET",1,74,"非编码区",14200,"0.6842=13/19",null,5979,"10q11.2","NM_020630",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v27994",162,94,0.58,{"$nulls":3},"A有","32630A","RFC1","chr4:39303925","c.2511T>C(exon19)","p.S837S","rs2066782",0.11,0.21,0.2,0.21,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RFC1",1,150,"同义",13203,"0.5838=108/185",null,5981,"4p14-p13","NM_001204747",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v28091",126,126,1,{"$nulls":3},"A有","32630A","RGS17","chr6:153365100","c.54T>G(exon2)","p.A18A","rs2295230",0.5,0.59,0.6,0.57,0.63,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RGS17",1,170,"同义",13203,"1.0000=143/143",null,26575,"6q25.3","NM_012419",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28120",70,31,0.44,{"$nulls":3},"A有","32630A","RHBG","chr1:156347131","c.20G>A(exon3)","p.G7D","rs2245623",0.27,0.082,0.095,0.068,0.076,0.099,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RHBG",1,71,"非同义",12210,"0.4306=31/72",null,57127,"1q21.3","NM_001256395",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28146",55,55,1,{"$nulls":3},"A有","32630A","RHOT2","chr16:722548","c.1386A>G(exon16)","p.G462G","rs1128550",0.71,1,1,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"RHOT2",1,62,"同义",13203,"1.0000=64/64",null,89941,"16p13.3","NM_138769",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28217",31,31,1,{"$nulls":3},"A有","32630A","RIPK4","chr21:43161805","c.1548C>T(exon8)","p.D516D","rs2838113",0.53,0.61,0.63,0.6,0.63,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"致命性国(腿弯)翼状胬肉综合征","AR",263650,5,1,9,1,"RIPK4",1,51,"同义",13203,"1.0000=35/35",null,54101,"21q22.3","NM_020639",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28244",11,8,0.73,{"$nulls":3},"A有","32630A","RNASE13","chr14:21501742","c.*235T>C(exon2)","非编码区","rs1268410",0.22,0.44,0.46,0.43,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RNASE13",1,94,"非编码区",14200,"0.7273=8/11",null,440163,"14q11.1","NM_001012264",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28266",19,10,0.53,{"$nulls":3},"A有","32630A","RNF112","chr17:19319015","c.1426-3C>T(exon14)","非编码区","rs1295329",0.33,0.13,0.11,0.16,0.13,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RNF112",1,46,"非编码区",16202,"0.5217=12/23",null,7732,"17p11.2","NM_007148",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28335",42,42,1,{"$nulls":3},"A有","32630A","RNF213","chr17:78311508","c.4650G>A(exon24)","p.A1550A","rs4890009",0.6,0.38,0.37,0.4,0.35,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"烟雾病2型/毛毛样脑血管病2型",null,607151,5,1,16,1,"RNF213",1,87,"同义",13203,"1.0000=46/46",null,57674,"17q25.3","NM_001256071",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28364",69,69,1,{"$nulls":3},"A有","32630A","RNF40","chr16:30780828","c.2493A>G(exon17)","p.L831L","rs4889506",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RNF40",1,78,"同义",13203,"1.0000=77/77",null,9810,"16p11.2-p11.1","NM_014771",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28415",146,63,0.43,{"$nulls":3},"A有","32630A","ROS1","chr6:117622233","c.6637G>A(exon42)","p.D2213N","rs529038",0.14,0.18,0.18,0.18,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16175505;18506375;18599554;19863298",{"$nulls":3},5,null,10,0,"ROS1",1,200,"非同义",12210,"0.4182=69/165",null,6098,"6q22","NM_002944","rs529038|\"Myocardial_infarction_association_with\"|16175505",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28418",138,65,0.47,{"$nulls":3},"A有","32630A","ROS1","chr6:117647581-117647582","c.5367-5(exon33)_c.5367-4(exon33)insT","非编码区","rs201712270",0.036,0.031,0.029,0.034,0.031,0.051,"杂合","未知","内含子突变",{"$nulls":4},4,null,10,0,"ROS1",1,200,"非编码区",2500,"0.4938=79/160",null,6098,"6q22","NM_002944",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32630A(747)v28481",3,2,0.67,{"$nulls":3},"A有","32630A","RPL13","chr16:89629736","c.*286C>T(exon5)","非编码区","rs3211567",0.16,0.15,0.18,0.13,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RPL13",1,55,"非编码区",14200,"0.6667=2/3",null,6137,"16q24.3|17p11.2","NM_033251",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28511",75,32,0.43,{"$nulls":3},"A有","32630A","RPN2","chr20:35865054","c.1825C>T(exon16)","p.L609L","rs4608",0.69,0.43,0.45,0.41,0.44,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23644918,{"$nulls":3},5,null,2,0,"RPN2",0.99,100,"同义",13203,"0.4045=36/89",null,6185,"20q12-q13.1","NM_002951",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28570",134,57,0.43,{"$nulls":3},"A有","32630A","RPSA","chr3:39453160","c.519G>A(exon5)","p.L173L","rs2269350",0.25,0.26,0.26,0.26,0.24,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"散发的先天性无脾症","AD",271400,5,1,2,1,"RPSA",1,100,"同义",13203,"0.4247=62/146",null,3921,"3p22.2","NM_002295",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28605",13,9,0.69,{"$nulls":3},"A有","32630A","RRM2B","chr8:103251255","c.-153G>T(exon1)","非编码区","rs2290707",0.12,0.4,0.42,0.38,0.35,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24861915,"线粒体DNA缺失综合征8A/B型（脑肌病合并肾小管病）","AR",612075,5,3,2,2,"RRM2B",1,150,"非编码区",14200,"0.6923=9/13",null,50484,"8q23.1","NM_015713",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v28661",56,28,0.5,{"$nulls":3},"A有","32630A","RSPH3","chr6:159420574","c.435A>G(exon1)","p.S145S","rs10945587",0.32,0.4,0.39,0.41,0.4,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"RSPH3",1,110,"同义",13203,"0.5000=30/60",null,83861,"6q25.3","NM_031924",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v28731",89,89,1,{"$nulls":3},"A有","32630A","RUSC2","chr9:35559213","c.3342-10C>T(exon9)","非编码区","rs2295842",0.22,0.33,0.33,0.33,0.34,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RUSC2",1,56,"非编码区",16202,"1.0000=107/107",null,9853,"9p13.3","NM_001135999",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v28839",44,44,1,{"$nulls":3},"A有","32630A","SALL3","chr18:76754466","c.2475C>T(exon2)","p.Y825Y","rs2472644",0.78,0.93,0.91,0.95,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SALL3",0.94,36,"同义",13203,"1.0000=54/54",null,27164,"18q23","NM_171999",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v28895",8,8,1,{"$nulls":3},"A有","32630A","SARM1","chr17:26708551","c.798C>G(exon2)","p.F266L","rs11652384",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"SARM1",1,40,"非同义",12230,"1.0000=10/10",null,23098,"17q11","NM_015077",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v28992",151,75,0.5,{"$nulls":3},"A有","32630A","SCEL","chr13:78192207","c.1628+12T>C(exon27)","非编码区","rs9574090",0.59,0.28,0.26,0.3,0.33,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SCEL",1,290,"非编码区",16203,"0.4702=79/168",null,8796,"13q22","NM_144777",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29015",51,23,0.45,{"$nulls":3},"A有","32630A","SCGN","chr6:25652569-25652569","c.-63(exon1)delG","非编码区","rs3215471",0.26,0.22,0.23,0.2,0.032,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SCGN",1,180,"非编码区",2420,"0.4407=26/59",null,10590,"6p22.3-p22.1","NM_006998",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29065",371,371,1,{"$nulls":3},"A有","32630A","SCN3A","chr2:166020295","c.694+17G>A(exon7)","非编码区","rs2304710",0.32,0.58,0.58,0.57,0.54,0.53,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SCN3A",1,230,"非编码区",16203,"1.0000=448/448",null,6328,"2q24","NM_001081677",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v29143",65,31,0.48,{"$nulls":3},"A有","32630A","SCUBE2","chr11:9087533","c.761-6T>C(exon7)","非编码区","rs2003906",0.34,0.48,0.5,0.46,0.49,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"SCUBE2",1,110,"非编码区",16202,"0.5068=37/73",null,57758,"11p15.3","NM_020974",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29171",156,78,0.5,{"$nulls":3},"A有","32630A","SDCCAG8","chr1:243579112","c.1725G>A(exon14)","p.E575E","rs10927011",0.44,0.78,0.81,0.75,0.72,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Bardet-biedl综合征16型","AR",615993,5,3,2,2,"SDCCAG8",1,210,"同义",13203,"0.5108=95/186",null,10806,"1q43","NM_006642",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29209",89,89,1,{"$nulls":3},"A有","32630A","SEC14L3","chr22:30857373","c.774T>G(exon13)","p.D258E","rs2240345",0.78,0.86,0.81,0.9,0.85,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SEC14L3",1,120,"非同义",12220,"1.0000=93/93",null,266629,"22q12.2","NM_001257378",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29258",16,16,1,{"$nulls":3},"A有","32630A","SEC63","chr6:108279290","c.-77C>T(exon1)","非编码区","rs2272884",0.93,0.93,0.93,0.93,0.93,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"多囊肝","AD",174050,5,1,3,1,"SEC63",1,220,"非编码区",14200,"1.0000=16/16",null,11231,"6q21","NM_007214",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29289",8,6,0.75,{"$nulls":3},"A有","32630A","SEMA3E","chr7:82996706","c.*196T>A(exon17)","非编码区","rs3801661",0.091,0.1,0.081,0.13,0.099,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"霍尔希特纳综合征","AD",214800,5,1,4,1,"SEMA3E",1,200,"非编码区",14200,"0.7500=6/8",null,9723,"7q21.11","NM_012431",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29351",96,40,0.42,{"$nulls":3},"A有","32630A","SEPT14","chr7:55902248","c.590A>G(exon6)","p.D197G","rs547834400",0.0002,0,0,0,null,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"SEPT14",0.86,150,"非同义",12110,"0.4091=45/110",null,346288,"7p11.2","NM_207366",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29382",10,4,0.4,{"$nulls":3},"A有","32630A","SERINC2","chr1:31886163","c.39+12C>T(exon1)","非编码区","rs12042883",0.28,0.4,0.37,0.43,0.43,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"SERINC2",0.96,49,"非编码区",16203,"0.4000=4/10",null,347735,"1p35.1","NM_178865",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29406",34,34,1,{"$nulls":3},"A有","32630A","SERPINA5","chr14:95053890","c.191G>A(exon3)","p.S64N","rs6115",0.62,0.41,0.4,0.42,0.46,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23670045,{"$nulls":3},5,null,6,0,"SERPINA5",1,96,"非同义",12220,"1.0000=38/38",null,5104,"14q32.1","NM_000624","SER64ASN|\"Stroke_paediatic\"|23670045",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29475",55,25,0.45,{"$nulls":3},"A有","32630A","SESN2","chr1:28599898","c.780G>A(exon6)","p.A260A","rs117161934",0.01,0.046,0.052,0.039,0.038,0.035,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"SESN2",1,55,"同义",13103,"0.4194=26/62",null,83667,"1p35.3","NM_031459",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29499",14,5,0.36,{"$nulls":3},"A有","32630A","SETD8","chr12:123874088","c.119C>A(exon2)","p.P40H",{"$nulls":5},0.21,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,10,0,"SETD8",1,150,"非同义",12420,"0.3529=6/17",null,387893,"12q24.31","NM_020382",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29519",89,40,0.45,{"$nulls":3},"A有","32630A","SETX","chr9:135202829","c.4156A>G(exon10)","p.I1386V","rs543573",0.56,0.36,0.34,0.37,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"早发型共济失调伴动眼不能和低白蛋白血症2型","AR",606002,5,3,11,2,"SETX",1,130,"非同义",12220,"0.4526=43/95",null,23064,"9q34.13","NM_015046",null,"ILE1386VAL|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29566",5,3,0.6,{"$nulls":3},"A有","32630A","SFTPA1","chr10:81374457","c.*588T>C(exon6)","非编码区","rs4253536",0.093,0.014,0.0048,0.024,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,5,1,5,1,"SFTPA1",1,170,"非编码区",14200,"0.7143=5/7",null,653509,"10q22.3","NM_005411",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29615",89,46,0.52,{"$nulls":3},"A有","32630A","SGOL1","chr3:20216519","c.504A>T(exon6)","p.T168T","rs61729306",0.27,0.43,0.43,0.43,0.38,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20011102,"慢性心房和肠道节律紊乱","AR",616201,5,3,2,1,"SGOL1",1,180,"同义",13203,"0.5400=54/100",null,151648,"3p24.3","NM_001199251",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29637",56,56,1,{"$nulls":3},"A有","32630A","SH2D3C","chr9:130536717","c.67C>T(exon2)","p.L23F","rs10760500",0.54,0.9,0.93,0.88,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SH2D3C",0.9,46,"非同义",12220,"1.0000=68/68",null,10044,"9q34.11","NM_170600",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29667",23,23,1,{"$nulls":3},"A有","32630A","SH3GL2","chr9:17579198","c.-43T>G(exon1)","非编码区","rs4961574",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SH3GL2",1,170,"非编码区",14200,"1.0000=24/24",null,6456,"9p22","NM_003026",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29713",73,23,0.32,{"$nulls":3},"A有","32630A","SHANK3","chr22:51159778","c.3517G>A(exon21)","p.A1173T","rs139686326",0.0032,0.017,0.0095,0.024,0.012,0.0073,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"Phelan-McDermid综合征/染色体22q13.3缺失综合征",null,606232,3,2,5,2,"SHANK3",0.98,39,"非同义",12130,"0.2674=23/86",null,85358,"22q13.3","NM_033517",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29755",94,94,1,{"$nulls":3},"A有","32630A","SHROOM3","chr4:77631425","c.440T>A(exon3)","p.L147H","rs3821979",0.22,0.32,0.3,0.33,0.4,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16574953,{"$nulls":3},5,null,3,0,"SHROOM3",1,77,"非同义",12210,"1.0000=110/110",null,57619,"4q21.1","NM_020859","LEU147HIS|\"Leukaemia_risk_association_with\"|16574953",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29789",70,70,1,{"$nulls":3},"A有","32630A","SIGLEC1","chr20:3677357","c.2559A>G(exon10)","p.K853K","rs501538",0.99,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"SIGLEC1",1,52,"同义",13203,"1.0000=83/83",null,6614,"20p13","NM_023068",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29842",8,8,1,{"$nulls":3},"A有","32630A","SIRT3","chr11:236343","c.-15T>C(exon1)","非编码区","rs7118852",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SIRT3",1,110,"非编码区",14200,"1.0000=9/9",null,23410,"11p15.5","NM_012239",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29881",121,121,1,{"$nulls":3},"A有","32630A","SKIV2L2","chr5:54645411","c.1251G>A(exon12)","p.K417K","rs2061242",0.18,0.28,0.27,0.29,0.26,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SKIV2L2",1,260,"同义",13203,"1.0000=141/141",null,23517,"5q11.2","NM_015360",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29904",28,18,0.64,{"$nulls":3},"A有","32630A","SLC11A1","chr2:219259814-219259817","c.*56(exon15)_c.*59(exon15)delTGTG","非编码区","rs17235416",{"$nulls":4},0.069,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译","17371589;19055603;19723394;20089160;20196868","Buruli溃疡",null,610446,3,2,6,2,"SLC11A1",1,62,"非编码区",2430,"0.6250=20/32",null,6556,"2q35","NM_000578",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29970",125,125,1,{"$nulls":3},"A有","32630A","SLC15A5","chr12:16430284","c.336C>T(exon1)","p.Y112Y","rs1671487",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SLC15A5",1,200,"同义",13203,"1.0000=135/135",null,729025,"12p12.3","NM_001170798",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v29998",173,173,1,{"$nulls":3},"A有","32630A","SLC17A4","chr6:25769349","c.228T>C(exon3)","p.A76A","rs1892251",0.88,0.98,0.98,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC17A4",1,150,"同义",13203,"1.0000=193/193",null,10050,"6p22.2","NM_005495",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30023",48,19,0.4,{"$nulls":3},"A有","32630A","SLC1A2","chr11:35282334","c.*107A>G(exon11)","非编码区","rs1570216",0.11,0.16,0.19,0.13,0.16,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",15296513,{"$nulls":3},5,null,4,0,"SLC1A2",1,140,"非编码区",14200,"0.3860=22/57",null,6506,"11p13-p12","NM_004171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30070",32,32,1,{"$nulls":3},"A有","32630A","SLC22A18","chr11:2924610","c.35G>A(exon2)","p.R12Q","rs1048047",0.61,0.73,0.73,0.73,0.76,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20644730,"肺癌","AR",211980,5,1,3,3,"SLC22A18",1,45,"非同义",12220,"1.0000=33/33",null,5002,"11p15.5","NM_183233",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30113",111,111,1,{"$nulls":3},"A有","32630A","SLC23A2","chr20:4880308","c.375C>T(exon6)","p.A125A","rs1776964",0.45,0.55,0.59,0.51,0.54,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19243932,{"$nulls":3},5,null,1,0,"SLC23A2",1,150,"同义",13203,"1.0000=126/126",null,9962,"20p13","NM_203327",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30131",6,4,0.67,{"$nulls":3},"A有","32630A","SLC24A4","chr14:92960238","c.*266A>G(exon18)","非编码区","rs4900132",0.25,0.3,0.26,0.33,0.27,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19399176,"牙釉质发育不全1A5型","AR",615887,5,3,8,2,"SLC24A4",1,100,"非编码区",14200,"0.6667=4/6",null,123041,"14q32.12","NM_153647",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30156",17,17,1,{"$nulls":3},"A有","32630A","SLC25A25","chr9:130854083","c.-67G>C(exon1)","非编码区","rs10739711",0.92,0.98,0.98,0.99,0.98,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SLC25A25",1,67,"非编码区",14200,"1.0000=19/19",null,114789,"9q34.11","NM_001265614",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30207",2,2,1,{"$nulls":3},"A有","32630A","SLC27A4","chr9:131123542","c.*772A>G(exon13)","非编码区","rs7048106",0.41,0.29,0.26,0.32,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"鱼鳞病-性早熟综合征",null,608649,5,1,2,1,"SLC27A4",1,54,"非编码区",14200,"1.0000=2/2",null,10999,"9q34.11","NM_005094",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30242",3,2,0.67,{"$nulls":3},"A有","32630A","SLC2A11","chr22:24227246","c.*210A>C(exon13)","非编码区","rs6003939",0.14,0.12,0.13,0.097,0.061,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC2A11",1,70,"非编码区",14200,"0.6667=2/3",null,66035,"22q11.23","NM_030807",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30273",113,57,0.5,{"$nulls":3},"A有","32630A","SLC30A4","chr15:45814363","c.190G>A(exon2)","p.G64R","rs148549828",0.0004,0.0024,0,0.0049,0.0036,2E-3,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"SLC30A4",1,210,"非同义",12110,"0.5116=66/129",null,7782,"15q21.1|15q21.1","NM_013309",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30349",2,2,1,{"$nulls":3},"A有","32630A","SLC36A2","chr5:150694964","c.*1414A>G(exon10)","非编码区","rs364420",0.79,0.98,0.97,0.99,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"高甘氨酸尿/高甘氨酸尿伴或不伴有草酸盐肾病","AD",138500,5,1,6,2,"SLC36A2",1,160,"非编码区",14200,"1.0000=2/2",null,153201,"5q33.1","NM_181776",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30381",133,133,1,{"$nulls":3},"A有","32630A","SLC38A4","chr12:47168898","c.1233C>T(exon14)","p.P411P","rs180414",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SLC38A4",1,220,"同义",13203,"1.0000=143/143",null,55089,"12q13","NM_018018",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30401",35,35,1,{"$nulls":3},"A有","32630A","SLC39A14","chr8:22262418","c.195A>G(exon2)","p.L65L","rs2293144",0.67,0.79,0.82,0.76,0.76,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC39A14",1,62,"同义",13203,"1.0000=41/41",null,23516,"8p21.3","NM_001135153",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30467",120,120,1,{"$nulls":3},"A有","32630A","SLC46A1","chr17:26727722-26727722","c.1226(exon4)delT","p.I409Tfs*?","rs5819844",null,1,1,1,0.85,1,"纯合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",18842806,"遗传性叶酸吸收障碍","AR",229050,1,1,5,1,"SLC46A1",1,78,"移码",2130,"1.0000=130/130",null,113235,"17q11.2","NM_080669",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["32630A(747)v30486",3,2,0.67,{"$nulls":3},"A有","32630A","SLC4A1","chr17:42327556","c.*270G>A(exon20)","非编码区","rs5027",0.051,0.11,0.12,0.1,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"球形细胞增多症4型",null,612653,5,2,4,9,"SLC4A1",1,86,"非编码区",14200,"0.6667=2/3",null,6521,"17q21.31","NM_000342",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30499",98,98,1,{"$nulls":3},"A有","32630A","SLC4A3","chr2:220505265","c.3472T>C(exon21)","p.L1158L","rs684428",null,0.85,0.84,0.86,0.85,0.84,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"SLC4A3",1,73,"同义",13303,"1.0000=106/106",null,6508,"2q36","NM_201574",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30547",16,7,0.44,{"$nulls":3},"A有","32630A","SLC5A2","chr16:31500639","c.1645G>A(exon12)","p.A549T","rs140508520",0.0002,0.0024,0.0048,0,0.0022,1.5E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"肾性糖尿","AD,AR",233100,3,1,1,1,"SLC5A2",1,37,"非同义",12120,"0.4375=7/16",null,6524,"16p11.2","NM_003041",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30576",74,43,0.58,{"$nulls":3},"A有","32630A","SLC6A17","chr1:110738296","c.1581G>A(exon10)","p.S527S","rs2784140",0.29,0.29,0.27,0.31,0.29,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SLC6A17",1,87,"同义",13203,"0.5882=50/85",null,388662,"1p13.3","NM_001010898",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30591",77,77,1,{"$nulls":3},"A有","32630A","SLC6A20","chr3:45817418","c.417T>C(exon4)","p.C139C","rs758386",0.95,0.91,0.91,0.92,0.92,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",22610502,"家族性肾原型亚甘氨酸尿症","AR",242600,5,1,2,2,"SLC6A20",1,91,"同义",13203,"1.0000=84/84",null,54716,"3p21.3","NM_020208",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30657",6,4,0.67,{"$nulls":3},"A有","32630A","SLC9A9","chr3:142985288","c.*256A>G(exon16)","非编码区","rs2289490",0.25,0.37,0.37,0.36,0.35,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"自闭症,易感16型",null,613410,5,2,3,1,"SLC9A9",1,210,"非编码区",14200,"0.7143=5/7",null,285195,"3q24","NM_173653",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30692",202,202,1,{"$nulls":3},"A有","32630A","SLCO1B7","chr12:21176135","c.500T>C(exon5)","p.V167A","rs1546308",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLCO1B7",1,350,"非同义",12220,"1.0000=237/237",null,338821,"12p12.2","NM_001009562",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30718",73,31,0.42,{"$nulls":3},"A有","32630A","SLCO4C1","chr5:101631592","c.355+20T>C(exon1)","非编码区","rs3114659",0.75,0.7,0.7,0.7,0.68,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SLCO4C1",1,210,"非编码区",16203,"0.3976=33/83",null,353189,"5q21.2","NM_180991",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30748",133,133,1,{"$nulls":3},"A有","32630A","SLIT2","chr4:20520993","c.1059-12T>C(exon12)","非编码区","rs519813",0.92,0.99,0.99,0.98,0.97,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLIT2",1,210,"非编码区",16202,"1.0000=147/147",null,9353,"4p15.2","NM_004787",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30812",171,171,1,{"$nulls":3},"A有","32630A","SMC5","chr9:72901096","c.982-20T>C(exon8)","非编码区","rs1180123",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SMC5",1,260,"非编码区",16202,"1.0000=192/192",null,23137,"9q21.12","NM_015110",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30858",45,45,1,{"$nulls":3},"A有","32630A","SMOX","chr20:4163302","c.1176A>G(exon5)","p.A392A","rs1051904",0.51,0.41,0.39,0.42,0.38,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SMOX",1,65,"同义",13203,"1.0000=49/49",null,54498,"20p13","NM_001270691",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30873",8,8,1,{"$nulls":3},"A有","32630A","SMPDL3B","chr1:28282819","c.*109T>C(exon7)","非编码区","rs4908381",0.93,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SMPDL3B",1,83,"非编码区",14200,"1.0000=8/8",null,27293,"1p35.3","NM_001009568",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30940",58,58,1,{"$nulls":3},"A有","32630A","SNIP1","chr1:38006359","c.328-3T>C(exon3)","非编码区","rs2174769",0.72,0.97,0.99,0.94,0.94,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16400609,"精神运动性迟滞,癫痫发作和颅面异常","AR",614501,5,1,1,1,"SNIP1",1,95,"非编码区",16202,"1.0000=59/59",null,79753,"1p34.3","NM_024700",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v30995",50,23,0.46,{"$nulls":3},"A有","32630A","SNX1","chr15:64418397","c.630G>A(exon6)","p.P210P","rs1130603",0.62,0.83,0.84,0.83,0.81,0.83,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SNX1",0.91,100,"同义",13203,"0.4909=27/55",null,6642,"15q22.31","NM_003099",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31016",95,43,0.45,{"$nulls":3},"A有","32630A","SNX31","chr8:101648110","c.256+15G>C(exon3)","非编码区","rs2187017",0.33,0.25,0.29,0.2,0.24,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SNX31",1,140,"非编码区",16203,"0.4673=50/107",null,169166,"8q22.3","NM_152628",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31025",46,46,1,{"$nulls":3},"A有","32630A","SNX7","chr1:99127392","c.105T>C(exon1)","p.S35S","rs9728148",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SNX7",1,240,"同义",13203,"1.0000=47/47",null,51375,"1p21.3","NM_015976",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31096",68,68,1,{"$nulls":3},"A有","32630A","SORL1","chr11:121437819","c.3220C>G(exon22)","p.Q1074E","rs1699107",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,7,1,"SORL1",1,110,"非同义",12230,"1.0000=76/76",null,6653,"11q23.2-q24.2","NM_003105",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31120",11,5,0.45,{"$nulls":3},"A有","32630A","SOX10","chr22:38379774","c.18C>T(exon2)","p.D6D","rs149435516",0.08,0.087,0.1,0.073,0.1,0.092,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"外周脱髓鞘神经病，中枢髓鞘化不良，WAARDENBURG综合征和巨结肠病/PCWH综合征","AD",609136,5,1,2,3,"SOX10",1,44,"同义",13203,"0.5000=6/12",null,6663,"22q13.1","NM_006941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31146",421,421,1,{"$nulls":3},"A有","32630A","SP140","chr2:231149108","c.1546G>A(exon16)","p.E516K","rs4972946",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SP140",1,260,"非同义",12220,"1.0000=507/507",null,11262,"2q37.1","NM_007237",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31209",210,103,0.49,{"$nulls":3},"A有","32630A","SPATA31D1","chr9:84607758","c.2373T>A(exon4)","p.T791T","rs10867826",0.62,0.7,0.7,0.7,0.69,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SPATA31D1",1,200,"同义",13203,"0.4824=123/255",{"$nulls":3},"NM_001001670",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31239",50,22,0.44,{"$nulls":3},"A有","32630A","SPATA8","chr15:97326748","c.-138G>T(exon1)","非编码区","rs12911590",null,0.51,0.52,0.5,0.54,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"SPATA8",1,160,"非编码区",14300,"0.4643=26/56",null,145946,"15q26.2","NM_173499",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31264",88,88,1,{"$nulls":3},"A有","32630A","SPECC1L","chr22:24717850","c.902A>G(exon5)","p.D301G","rs204710",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"面斜裂1型",null,600251,5,1,2,1,"SPECC1L",1,150,"非同义",12220,"1.0000=104/104",null,23384,"22q11.23","NM_015330",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31337",149,149,1,{"$nulls":3},"A有","32630A","SPINK5","chr5:147477551","c.1004C>T(exon11)","p.A335V","rs34482796",0.45,0.44,0.42,0.46,0.46,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","内瑟顿综合征/Netherton综合征 ","AR",256500,5,1,18,2,"SPINK5",1,260,"非同义",12220,"1.0000=175/175",null,11005,"5q32","NM_001127698",null,"ALA335VAL|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31349",246,246,1,{"$nulls":3},"A有","32630A","SPINK5","chr5:147499670","c.2412C>T(exon25)","p.G804G","rs33920397",0.49,0.44,0.4,0.47,0.45,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"内瑟顿综合征/Netherton综合征 ","AR",256500,5,1,18,2,"SPINK5",1,260,"同义",13203,"1.0000=286/286",null,11005,"5q32","NM_001127698",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31376",37,19,0.51,{"$nulls":3},"A有","32630A","SPO11","chr20:55905001","c.78C>T(exon1)","p.A26A","rs202141631",0.0002,0.0024,0,0.0049,0.0095,0.0044,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"SPO11",1,200,"同义",13103,"0.5000=21/42",null,23626,"20q13.31","NM_012444",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31443",87,36,0.41,{"$nulls":3},"A有","32630A","SPRYD3","chr12:53459658","c.1287C>T(exon11)","p.C429C","rs201437528",0.0002,0,0,0,0.0068,4.3E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"SPRYD3",1,100,"同义",13103,"0.3789=36/95",null,84926,"12q13.13","NM_032840",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31459",63,63,1,{"$nulls":3},"A有","32630A","SPTA1","chr1:158592935","c.5958C>T(exon43)","p.P1986P","rs3753068",0.31,0.21,0.18,0.25,0.2,0.19,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"椭圆形红细胞增多症2型","AD",130600,5,1,18,3,"SPTA1",1,120,"同义",13203,"1.0000=69/69",null,6708,"1q21","NM_003126",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31479",17,17,1,{"$nulls":3},"A有","32630A","SPTBN2","chr11:66472274","c.2473A>G(exon14)","p.S825G","rs4930388",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性脊髓小脑性共济失调14型","AR",615386,5,1,5,2,"SPTBN2",1,47,"非同义",12230,"1.0000=17/17",null,6712,"11q13","NM_006946",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31484",29,29,1,{"$nulls":3},"A有","32630A","SPTBN5","chr15:42147639","c.9114-13T>G(exon55)","非编码区","rs2305655",0.62,0.84,0.83,0.84,0.81,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"SPTBN5",1,42,"非编码区",16202,"1.0000=36/36",null,51332,"15q21","NM_016642",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31557",58,58,1,{"$nulls":3},"A有","32630A","SRMS","chr20:62174724","c.588C>T(exon3)","p.Y196Y","rs4809309",0.37,0.95,0.95,0.95,0.9,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SRMS",1,47,"同义",13203,"1.0000=67/67",null,6725,"-","NM_080823",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31583",13,13,1,{"$nulls":3},"A有","32630A","SRRD","chr22:26887829","c.*191A>G(exon7)","非编码区","rs1045523",null,0.89,0.91,0.87,0.89,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"SRRD",1,130,"非编码区",14300,"1.0000=14/14",null,402055,"22q12.1","NM_001013694",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31616",24,18,0.75,{"$nulls":3},"A有","32630A","SSH3","chr11:67071584","c.67-5C>G(exon2)","非编码区","rs4244822",0.91,0.88,0.86,0.89,0.87,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SSH3",1,53,"非编码区",16201,"0.7692=20/26",null,54961,"11q13.2","NM_017857",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31680",20,20,1,{"$nulls":3},"A有","32630A","ST6GALNAC2","chr17:74581945","c.-55T>C(exon1)","非编码区","rs12449329",0.76,0.84,0.88,0.81,0.82,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ST6GALNAC2",1,84,"非编码区",14200,"1.0000=22/22",null,10610,"17q25.1","NM_006456",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31706",55,26,0.47,{"$nulls":3},"A有","32630A","STAB1","chr3:52548818","c.3780C>T(exon35)","p.C1260C","rs740903",0.16,0.21,0.22,0.2,0.26,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"STAB1",1,62,"同义",13203,"0.4833=29/60",null,23166,"3p21.1","NM_015136",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31734",3,3,1,{"$nulls":3},"A有","32630A","STARD13","chr13:33691953","c.*420T>C(exon8)","非编码区","rs7326364",0.52,0.56,0.55,0.56,0.47,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"STARD13",0.99,88,"非编码区",14200,"1.0000=3/3",null,90627,"13q12-q13","NM_001243466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31766",141,68,0.48,{"$nulls":3},"A有","32630A","STIP1","chr11:63967770","c.1245+5C>G(exon10)","非编码区","rs11231722",0.39,0.33,0.3,0.35,0.32,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"STIP1",1,160,"非编码区",16202,"0.4720=76/161",null,10963,"11q13","NM_006819",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31824",37,37,1,{"$nulls":3},"A有","32630A","STMN3","chr20:62272658","c.*33A>G(exon5)","非编码区","rs2150910",0.85,0.63,0.64,0.62,null,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"STMN3",1,32,"非编码区",14200,"1.0000=37/37",null,50861,"20q13.3","NM_015894",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31854",67,30,0.45,{"$nulls":3},"A有","32630A","STOX2","chr4:184931818","c.1827G>A(exon3)","p.T609T","rs4861597",0.43,0.63,0.61,0.65,0.65,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"STOX2",1,99,"同义",13203,"0.4321=35/81",null,56977,"4q35.1","NM_020225",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31921",17,12,0.71,{"$nulls":3},"A有","32630A","SUCO","chr1:172502479","c.-97T>C(exon1)","非编码区","rs2285144",0.59,0.4,0.43,0.36,0.38,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SUCO",1,220,"非编码区",14200,"0.7368=14/19",null,51430,"1q24","NM_014283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31931",91,91,1,{"$nulls":3},"A有","32630A","SULF2","chr20:46287012","c.*94G>C(exon21)","非编码区","rs444271",0.94,0.97,0.96,0.97,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SULF2",1,88,"非编码区",14200,"1.0000=108/108",null,55959,"20q12-q13.2","NM_001161841",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31972",130,59,0.45,{"$nulls":3},"A有","32630A","SULT6B1","chr2:37402373","c.416-4T>C(exon5)","非编码区","rs11569758",0.22,0.16,0.14,0.17,0.2,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SULT6B1",1,190,"非编码区",16202,"0.4324=64/148",null,391365,"2p22.2","NM_001032377",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v31998",120,120,1,{"$nulls":3},"A有","32630A","SUPT16H","chr14:21829129","c.1932G>C(exon17)","p.G644G","rs3762158",0.87,0.89,0.89,0.88,0.88,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SUPT16H",1,150,"同义",13202,"1.0000=145/145",null,11198,"14q11.2","NM_007192",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32076",28,14,0.5,{"$nulls":3},"A有","32630A","SYCE1","chr10:135367655","c.*139T>C(exon13)","非编码区","rs11101821",0.15,0.27,0.25,0.28,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"SYCE1",1,74,"非编码区",14200,"0.4828=14/29",null,93426,"10q26.3","NM_001143763",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32090",16,6,0.38,{"$nulls":3},"A有","32630A","SYCP2L","chr6:10887081","c.-279T>C(exon1)","非编码区","rs35186277",0.14,0.13,0.14,0.13,0.14,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"SYCP2L",1,210,"非编码区",14200,"0.3889=7/18",null,221711,"6p24.2","NM_001040274",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32123",102,101,0.99,{"$nulls":3},"A有","32630A","SYNE1","chr6:152464839","c.25038T>C(exon138)","p.R8346R","rs2256135",0.69,0.71,0.71,0.7,0.72,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","常染色体隐性脊髓小脑性共济失调8型","AR",610743,5,1,28,2,"SYNE1",1,130,"同义",13203,"0.9908=108/109",null,23345,"6q25","NM_182961",null,"rs2256135|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32167",135,135,1,{"$nulls":3},"A有","32630A","SYNE2","chr14:64612858","c.15556C>A(exon84)","p.L5186M","rs10151658",0.63,0.66,0.67,0.65,0.68,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"Emery-Dreifuss型肌营养不良5型","AD",612999,5,1,23,1,"SYNE2",1,170,"非同义",12220,"1.0000=162/162",null,23224,"14q23.2","NM_182914",null,"LEU5186MET|Benign|NA|NA|criteria provided, single submitter|PubMed:18414213",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32191",116,114,0.98,{"$nulls":3},"A有","32630A","SYNJ2BP-COX16","chr14:70793004","c.*46T>C(exon6)","非编码区","rs4749",0.77,0.94,0.93,0.95,0.93,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SYNJ2BP-COX16",1,350,"非编码区",14200,"0.9853=134/136",null,100529257,"14q24","NM_001202547",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32221",70,15,0.21,{"$nulls":3},"A有","32630A","SYT15","chr10:46965727","c.810C>T(exon5)","p.A270A","rs1889849",{"$nulls":4},0.42,0.48,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"SYT15",1,98,"同义",13303,"0.2105=16/76",null,83849,"10q11.1","NM_031912",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34933",3,3,1,{"$nulls":3},"A有","32630A","T","chr6:166571525","c.*278A>G(exon9)","非编码区","rs3099270",0.78,0.89,0.92,0.86,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"叶酸敏感型神经管畸形","AR",601634,5,1,7,2,"T",1,82,"非编码区",14200,"1.0000=3/3",null,6862,"6q27","NM_003181",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32305",5,5,1,{"$nulls":3},"A有","32630A","TAF1C","chr16:84211735","c.*812T>G(exon14)","非编码区","rs2288025",0.14,0.17,0.17,0.17,0.17,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"TAF1C",1,49,"非编码区",14200,"1.0000=7/7",null,9013,"16q24","NM_005679",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32335",34,17,0.5,{"$nulls":3},"A有","32630A","TAF6","chr7:99711040","c.398-12C>T(exon5)","非编码区","rs4134903",0.28,0.38,0.36,0.41,0.38,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TAF6",1,76,"非编码区",16202,"0.5143=18/35",null,6878,"7q22.1","NM_005641",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32402",25,10,0.4,{"$nulls":3},"A有","32630A","TAS1R3","chr1:1267923","c.1012G>A(exon3)","p.V338M","rs148558246",{"$nulls":5},0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,6,0,"TAS1R3",1,31,"非同义",12320,"0.4000=10/25",null,83756,"1p36.33","NM_152228",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32424",296,103,0.35,{"$nulls":3},"A有","32630A","TAS2R19","chr12:11174397","c.774A>T(exon1)","p.K258N","rs76455106",{"$nulls":4},0.46,0.078,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,18,0,"TAS2R19",1,240,"非同义",12320,"0.3353=111/331",null,259294,"12p13.2","NM_176888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32459",387,120,0.31,{"$nulls":3},"A有","32630A","TAS2R31","chr12:11183697","c.238G>T(exon1)","p.V80L","rs73049074",{"$nulls":4},0.48,0.5,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,18,0,"TAS2R31",1,370,"非同义",12320,"0.3166=145/458",null,259290,"12p13.2","NM_176885",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32484",160,45,0.28,{"$nulls":3},"A有","32630A","TAS2R43","chr12:11244646","c.183A>G(exon1)","p.V61V","rs201583586",{"$nulls":4},0.35,0.28,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,27,0,"TAS2R43",1,220,"同义",13303,"0.2487=49/197",null,259289,"12p13.2","NM_176884",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32552",109,109,1,{"$nulls":3},"A有","32630A","TBC1D19","chr4:26585881","c.66C>T(exon1)","p.S22S","rs4692549",0.31,0.38,0.43,0.33,0.35,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TBC1D19",1,240,"同义",13203,"1.0000=131/131",null,55296,"4p15.2","NM_018317",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32588",7,3,0.43,{"$nulls":3},"A有","32630A","TBC1D2B","chr15:78369972","c.23C>G(exon1)","p.A8G","rs7176425",0.42,0.61,0.63,0.59,0.5,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TBC1D2B",1,100,"非同义",12220,"0.3333=3/9",null,23102,"15q24.3-q25.1","NM_144572",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32618",51,31,0.61,{"$nulls":3},"A有","32630A","TBCD","chr17:80863857","c.1850T>C(exon20)","p.M617T","rs2292971",0.49,0.26,0.25,0.27,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TBCD",1,86,"非同义",12220,"0.6207=36/58",null,6904,"17q25.3","NM_005993",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32666",35,18,0.51,{"$nulls":3},"A有","32630A","TCEB3B","chr18:44560875","c.761G>T(exon1)","p.C254F","rs2010834",0.53,0.6,0.59,0.62,0.66,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"TCEB3B",1,86,"非同义",12220,"0.5000=20/40",null,51224,"18q21.1","NM_016427",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32695",72,29,0.4,{"$nulls":3},"A有","32630A","TCF7","chr5:133481467","c.766G>A(exon9)","p.G256R","rs30489",0.15,0.41,0.42,0.39,0.39,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TCF7",1,70,"非同义",12220,"0.4051=32/79",null,6932,"5q31.1","NM_001134851",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32742",261,112,0.43,{"$nulls":3},"A有","32630A","TCTEX1D1","chr1:67242087","c.336+1G>A(exon4)","剪切位点","rs3816989",0.13,0.14,0.15,0.12,0.13,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16937379,{"$nulls":3},5,null,2,0,"TCTEX1D1",1,220,"剪切位点",16204,"0.4199=131/312",null,200132,"1p31.3","NM_152665",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32753",174,174,1,{"$nulls":3},"A有","32630A","TDG","chr12:104373600","c.167-9G>A(exon3)","非编码区","rs3751209",0.34,0.54,0.54,0.54,0.53,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17029639,{"$nulls":3},5,null,6,0,"TDG",1,280,"非编码区",16202,"1.0000=202/202",null,6996,"12q24.1","NM_003211",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32806",60,21,0.35,{"$nulls":3},"A有","32630A","TEKT3","chr17:15215660","c.1017A>G(exon7)","p.Q339Q","rs2286516",0.23,0.21,0.24,0.18,0.26,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TEKT3",1,120,"同义",13203,"0.3692=24/65",null,64518,"17p12","NM_031898",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32841",29,12,0.41,{"$nulls":3},"A有","32630A","TERT","chr5:1294086","c.915G>A(exon2)","p.A305A","rs2736098",0.27,0.37,0.34,0.4,0.36,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;17267408;18978790;19151717;19773453","端粒相关性肺纤维化和/或骨髓衰竭1型","AD",614742,5,1,1,4,"TERT",0.99,47,"同义",13203,"0.4688=15/32",null,7015,"5p15.33","NM_198253",null,"rs2736098|Benign|OMIM:609135|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32867",3,3,1,{"$nulls":3},"A有","32630A","TEX13B","chrX:107225580","c.-73A>C(exon1)","非编码区","rs6616672",null,0.12,0.082,0.16,null,null,"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"TEX13B",1,35,"非编码区",14300,"1.0000=3/3",null,56156,"Xq22.3","NM_031273",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32983",55,21,0.38,{"$nulls":3},"A有","32630A","TG","chr8:133909974","c.3082A>G(exon12)","p.M1028V","rs853326",0.67,0.77,0.78,0.77,0.76,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",15579800,"自身免疫性甲状腺疾病,易感3型",null,608175,5,2,10,2,"TG",1,100,"非同义",12220,"0.3500=21/60",null,7038,"8q24","NM_003235",null,"MET1028VAL|risk factor|OMIM:608175|OMIM:188450.0010|no assertion criteria provided|PubMed:15579800",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32932",110,48,0.44,{"$nulls":3},"A有","32630A","TGFBR3","chr1:92327045","c.44C>T(exon2)","p.S15F","rs1805110",0.19,0.41,0.41,0.4,0.39,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19131638;19299629;22290546;22440163",{"$nulls":3},5,null,6,0,"TGFBR3",1,150,"非同义",12220,"0.4538=59/130",null,7049,"1p33-p32","NM_003243",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v32958",79,79,1,{"$nulls":3},"A有","32630A","TGM6","chr20:2413126","c.1968-10C>T(exon13)","非编码区","rs6036467",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脊髓小脑性共济失调35型","AD",613908,5,1,5,1,"TGM6",1,100,"非编码区",16202,"1.0000=91/91",null,343641,"20p13","NM_198994",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v33038",5,3,0.6,{"$nulls":3},"A有","32630A","THNSL1","chr10:25314538","c.*154A>C(exon3)","非编码区","rs12249889",0.31,0.5,0.47,0.54,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"THNSL1",1,130,"非编码区",14200,"0.6000=3/5",null,79896,"10p12.1","NM_024838",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v34237",62,28,0.45,{"$nulls":3},"A有","32630A","TRIM36","chr5:114469851","c.1247-7C>T(exon8)","非编码区","rs17137483",0.16,0.39,0.39,0.39,0.34,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TRIM36",1,140,"非编码区",16202,"0.4789=34/71",null,55521,"5q22.3","NM_018700",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v34305",49,22,0.45,{"$nulls":3},"A有","32630A","TRIM66","chr11:8646237","c.2395+19C>A(exon11)","非编码区","rs12803166",0.52,0.41,0.43,0.38,0.38,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"TRIM66",1,69,"非编码区",16203,"0.4211=24/57",null,9866,"11p15.4","NM_014818",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34373",34,17,0.5,{"$nulls":3},"A有","32630A","TRMT12","chr8:125463098","c.-71A>T(exon1)","非编码区","rs3812474",0.57,0.43,0.45,0.4,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TRMT12",1,64,"非编码区",14200,"0.4595=17/37",null,55039,"8q24.13","NM_017956",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34408",21,15,0.71,{"$nulls":3},"A有","32630A","TRPC4","chr13:38210931","c.*109G>A(exon11)","非编码区","rs10161932",0.33,0.74,0.74,0.74,0.69,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20574736,{"$nulls":3},5,null,2,0,"TRPC4",1,150,"非编码区",14200,"0.7200=18/25",null,7223,"13q13.3","NM_003306",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34429",114,19,0.17,{"$nulls":3},"A有","32630A","TRPM3","chr9:73479436","c.178-9C>T(exon2)","非编码区","rs372966280",{"$nulls":4},0.41,0.46,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,5,0,"TRPM3",1,130,"非编码区",16302,"0.1732=22/127",null,80036,"9q21.12","NM_001007471",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34469",69,69,1,{"$nulls":3},"A有","32630A","TRPV4","chr12:110226379","c.2034C>T(exon13)","p.I678I","rs3742037",0.18,0.15,0.19,0.11,0.16,0.19,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",25647731,"Kozlowski型脊椎干骺端发育不良","AD",184252,5,1,2,10,"TRPV4",1,74,"同义",13203,"1.0000=78/78",null,59341,"12q24.1","NM_021625",null,"rs3742037|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34499",257,129,0.5,{"$nulls":3},"A有","32630A","TSHR","chr14:81574959","c.696A>G(exon9)","p.L232L","rs3783942",0.61,0.38,0.34,0.41,0.3,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"非甲状腺肿大先天性甲状腺机能低下症1型/甲状腺发育不全","AR",275200,5,3,6,3,"TSHR",1,130,"同义",13203,"0.5149=156/303",null,7253,"14q31","NM_001018036",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34517",12,12,1,{"$nulls":3},"A有","32630A","TSPAN10","chr17:79612413","c.432T>C(exon2)","p.C144C","rs7210043",0.67,1,1,0.99,0.98,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"TSPAN10",1,27,"同义",13203,"1.0000=13/13",null,83882,"17q25.3","NM_031945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34553",5,3,0.6,{"$nulls":3},"A有","32630A","TSPAN3","chr15:77363451","c.-155A>G(exon1)","非编码区","rs11072641",0.51,0.52,0.47,0.57,0.47,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TSPAN3",1,120,"非编码区",14200,"0.6000=3/5",null,10099,"15q24.3","NM_005724",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34598",109,57,0.52,{"$nulls":3},"A有","32630A","TTC19","chr17:15930882","c.*46T>C(exon10)","非编码区","rs3744328",0.098,0.084,0.11,0.058,0.064,0.078,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"线粒体复合物III缺陷，核型2型","AR",615157,5,3,1,1,"TTC19",1,120,"非编码区",14200,"0.5116=66/129",null,54902,"17p12","NM_001271420",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34630",43,19,0.44,{"$nulls":3},"A有","32630A","TTC33","chr5:40746885","c.221+15T>A(exon2)","非编码区","rs3805497",0.35,0.54,0.58,0.5,0.5,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TTC33",1,110,"非编码区",16203,"0.4348=20/46",null,23548,"5p13.1","NM_012382",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34673",172,172,1,{"$nulls":3},"A有","32630A","TTC7B","chr14:91161862","c.759G>A(exon6)","p.T253T","rs10146731",0.62,0.68,0.72,0.65,0.68,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TTC7B",1,120,"同义",13203,"1.0000=197/197",null,145567,"14q32.11","NM_001010854",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34732",97,97,1,{"$nulls":3},"A有","32630A","TTN","chr2:179396354","c.104988C>T(exon358)","p.V34996V","rs3829748",0.23,0.4,0.44,0.35,0.42,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"肢带型肌营养不良症2J型","AR",608807,5,1,57,6,"TTN",0.99,130,"同义",13203,"1.0000=106/106",null,7273,"2q31","NM_001267550",null,"rs3829748|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34737",69,31,0.45,{"$nulls":3},"A有","32630A","TTN","chr2:179404310","c.98482A>G(exon352)","p.I32828V","rs199689554",{"$nulls":4},6.6E-4,0.00046,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"先天性肌病,早发,伴心肌病","AR",611705,3,3,57,6,"TTN",0.99,130,"非同义",12320,"0.4605=35/76",null,7273,"2q31","NM_001267550",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34742",119,119,1,{"$nulls":3},"A有","32630A","TTN","chr2:179421694","c.88187T>C(exon330)","p.I29396T","rs9808377",0.51,0.69,0.71,0.66,0.67,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1G型",null,604145,5,1,57,6,"TTN",0.99,130,"非同义",12220,"1.0000=137/137",null,7273,"2q31","NM_001267550",null,"rs9808377|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34753",46,46,1,{"$nulls":3},"A有","32630A","TTN","chr2:179455207","c.61245A>G(exon304)","p.T20415T","rs2163009",0.51,0.7,0.73,0.66,0.68,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"肢带型肌营养不良症2J型","AR",608807,5,1,57,6,"TTN",0.99,130,"同义",13203,"1.0000=54/54",null,7273,"2q31","NM_001267550",null,"rs2163009|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34758",99,45,0.45,{"$nulls":3},"A有","32630A","TTN","chr2:179495742","c.44014+19G>C(exon237)","非编码区","rs139264089",0.0064,0.019,0.024,0.015,0.021,0.018,"杂合","未知","内含子突变可能影响调控","CLINVAR数据库","肢带型肌营养不良症2J型","AR",608807,4,3,57,6,"TTN",0.99,130,"非编码区",16103,"0.4630=50/108",null,7273,"2q31","NM_001267550",null,"rs139264089|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34766",110,110,1,{"$nulls":3},"A有","32630A","TTN","chr2:179582327","c.25274G>A(exon87)","p.S8425N","rs13390491",0.24,0.43,0.46,0.39,0.43,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性肥厚型心肌病9型",null,613765,5,1,57,6,"TTN",0.99,130,"非同义",12220,"1.0000=123/123",null,7273,"2q31","NM_001267550",null,"SER8425ASN|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;rs13390491|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34774",102,102,1,{"$nulls":3},"A有","32630A","TTN","chr2:179605180","c.12780G>A(exon48)","p.A4260A","rs746578",0.24,0.48,0.49,0.47,0.48,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"肢带型肌营养不良症2J型","AR",608807,5,1,57,6,"TTN",0.99,130,"同义",13203,"1.0000=119/119",null,7273,"2q31","NM_001267550",null,"rs746578|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34779",107,107,1,{"$nulls":3},"A有","32630A","TTN","chr2:179620951","c.11252G>A(exon46)","p.G3751D","rs7585334",0.8,0.75,0.75,0.75,0.77,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"肢带型肌营养不良症2J型","AR",608807,5,1,57,6,"TTN",0.99,130,"非同义",12220,"1.0000=124/124",null,7273,"2q31","NM_001267550",null,"GLY3751ASP|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;rs7585334|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34783",64,64,1,{"$nulls":3},"A有","32630A","TTN","chr2:179629461","c.9781G>A(exon42)","p.V3261M","rs2291311",0.8,0.77,0.76,0.78,0.78,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性肥厚型心肌病9型",null,613765,5,1,57,6,"TTN",0.99,130,"非同义",12220,"1.0000=79/79",null,7273,"2q31","NM_001267550",null,"rs2291311|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;VAL3261MET|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34852",35,35,1,{"$nulls":3},"A有","32630A","TUB","chr11:8117228","c.730+16A>G(exon6)","非编码区","rs11041739",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"视网膜营养不良和肥胖","AR",616188,5,1,3,1,"TUB",1,97,"非编码区",16203,"1.0000=40/40",null,7275,"11p15.5","NM_003320",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34839",114,52,0.46,{"$nulls":3},"A有","32630A","TUBG2","chr17:40818699","c.1237A>G(exon11)","p.M413V","rs1046097",0.48,0.46,0.51,0.41,0.44,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TUBG2",1,130,"非同义",12220,"0.4803=61/127",null,27175,"17q21","NM_016437",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34881",208,115,0.55,{"$nulls":3},"A有","32630A","TWF1","chr12:44196125","c.246A>G(exon3)","p.E82E","rs112006889",0.05,0.055,0.067,0.044,0.039,0.049,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"TWF1",0.98,210,"同义",13103,"0.5510=135/245",null,5756,"12q12","NM_001242397",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34907",3,3,1,{"$nulls":3},"A有","32630A","TXNIP","chr1:145438578","c.-225C>A(exon1)","非编码区","rs833392",1,1,1,1,0.99,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TXNIP",1,120,"非编码区",14200,"1.0000=3/3",null,10628,"1q21.1","NM_006472",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v34983",78,78,1,{"$nulls":3},"A有","32630A","UBE2I","chr16:1374818","c.*24A>G(exon8)","非编码区","rs8063",0.66,0.95,0.96,0.95,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19765634,{"$nulls":3},5,null,5,0,"UBE2I",1,87,"非编码区",14200,"1.0000=85/85",null,7329,"16p13.3","NM_194259",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35018",162,162,1,{"$nulls":3},"A有","32630A","UBQLN1","chr9:86284178","c.1170G>T(exon7)","p.L390L","rs1044175",0.77,0.84,0.83,0.86,0.86,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"UBQLN1",1,140,"同义",13203,"1.0000=194/194",null,29979,"9q22|9q21.2-q21.3","NM_013438",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35042",58,24,0.41,{"$nulls":3},"A有","32630A","UBR4","chr1:19491857","c.4212-14A>G(exon31)","非编码区","rs3748757",0.72,0.8,0.79,0.81,0.79,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"UBR4",1,120,"非编码区",16202,"0.3846=25/65",null,23352,"1p36.13","NM_020765",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35107",121,49,0.41,{"$nulls":3},"A有","32630A","UGGT2","chr13:96599295","c.1673T>C(exon15)","p.V558A","rs187677432",0.0008,0.0072,0.014,0,0.0021,2.3E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"UGGT2",1,250,"非同义",12120,"0.4104=55/134",null,55757,"13q32.1","NM_020121",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35125",168,78,0.46,{"$nulls":3},"A有","32630A","UGT1A5","chr2:234622110","c.473C>G(exon1)","p.A158G","rs12475068",0.14,0.21,0.27,0.16,0.18,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"UGT1A5",1,150,"非同义",12220,"0.4845=94/194",null,54579,"2q37","NM_019078",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35154",187,97,0.52,{"$nulls":3},"A有","32630A","UGT2B15","chr4:69512847","c.1568A>C(exon6)","p.K523T",null,null,0.16,0.18,0.13,0.18,0.17,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"UGT2B15",1,300,"非同义",12420,"0.4933=110/223",null,7366,"4q13","NM_001076",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35212",214,214,1,{"$nulls":3},"A有","32630A","ULK4","chr3:41925398","c.1624G>A(exon17)","p.A542T","rs1052501",0.69,0.83,0.86,0.8,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","22120009;22945773;24449210",{"$nulls":3},5,null,13,0,"ULK4",1,180,"非同义",12220,"1.0000=253/253",null,54986,"3p22.1","NM_017886","rs1052501|\"Multiple_myeloma_increased_risk\"|22120009",{"$nulls":3},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35239",57,21,0.37,{"$nulls":3},"A有","32630A","UMODL1","chr21:43557698","c.4093A>C(exon21)","p.N1365H","rs3819142",0.22,0.25,0.22,0.29,0.24,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"UMODL1",1,88,"非同义",12220,"0.3636=24/66",null,89766,"21q22.3","NM_001199527",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35266",109,109,1,{"$nulls":3},"A有","32630A","UNC80","chr2:210843383","c.8871G>A(exon58)","p.Q2957Q","rs2075117",0.65,0.58,0.59,0.58,0.61,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"UNC80",1,140,"同义",13203,"1.0000=124/124",null,285175,"2q35","NM_032504",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35327",31,13,0.42,{"$nulls":3},"A有","32630A","USF2","chr19:35770056","c.952-14G>A(exon10)","非编码区","rs2280746",0.2,0.27,0.25,0.29,0.26,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"USF2",1,59,"非编码区",16202,"0.4103=16/39",null,7392,"19q13","NM_003367",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35354",129,129,1,{"$nulls":3},"A有","32630A","USO1","chr4:76734343","c.2677-16C>T(exon24)","非编码区","rs17284996",0.39,0.76,0.72,0.79,0.78,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"USO1",1,230,"非编码区",16202,"1.0000=143/143",null,8615,"4q21.1","NM_003715",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35382",123,123,1,{"$nulls":3},"A有","32630A","USP24","chr1:55638075","c.677C>T(exon4)","p.T226I","rs1165222",0.91,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16917932,{"$nulls":3},5,null,3,0,"USP24",1,200,"非同义",12220,"1.0000=144/144",null,23358,"1p32.3","NM_015306","THR226ILE|\"Parkinson_disease_risk_association_with\"|16917932",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35414",8,3,0.38,{"$nulls":3},"A有","32630A","USP36","chr17:76799860","c.2417A>G(exon16)","p.Q806R","rs3088040",0.57,0.61,0.6,0.62,0.51,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"USP36",0.98,76,"非同义",12220,"0.3750=3/8",null,57602,"17q25.3","NM_025090",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35458",257,96,0.37,{"$nulls":3},"A有","32630A","USP6","chr17:5036211","c.202C>T(exon5)","p.R68W","rs201674756",{"$nulls":4},0.35,0.29,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,13,0,"USP6",1,240,"非同义",12320,"0.3511=112/319",null,9098,"17p13","NM_004505",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35511",78,78,1,{"$nulls":3},"A有","32630A","UVSSA","chr4:1374695","c.1780C>A(exon12)","p.R594R","rs28614045",0.7,0.71,0.7,0.73,0.69,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"紫外线敏感性综合征3型","AR",614640,5,1,7,1,"UVSSA",1,84,"同义",13203,"1.0000=91/91",null,57654,"4p16.3","NM_020894",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35541",23,10,0.43,{"$nulls":3},"A有","32630A","VARS2","chr6:30882803","c.280G>A(exon2)","p.G94R","rs6926723",0.065,0.07,0.052,0.087,0.067,0.063,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20084279,"联合氧化磷酸化缺陷20型","AR",615917,5,3,4,1,"VARS2",0.63,34,"非同义",12220,"0.4615=12/26",null,57176,"6p21.33","NM_001167734",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35607",48,13,0.27,{"$nulls":3},"A有","32630A","VGLL4","chr3:11643465","c.114A>G(exon2)","p.I38M","rs2276749",0.93,0.95,0.97,0.94,0.95,0.95,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"VGLL4",1,68,"非同义",12220,"0.2593=14/54",null,9686,"3p25.3","NM_001128219",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35631",71,34,0.48,{"$nulls":3},"A有","32630A","VN1R2","chr19:53762537","c.909C>T(exon1)","p.L303L","rs12609049",0.14,0.26,0.24,0.28,0.23,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"VN1R2",1,88,"同义",13203,"0.4658=34/73",null,317701,"19q13.42","NM_173856",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35673",118,118,1,{"$nulls":3},"A有","32630A","VPS33B","chr15:91543761","c.1540G>A(exon20)","p.G514S","rs11073964",0.77,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"关节弯曲、肾衰竭和胆汁淤积1型","AR",208085,5,1,2,1,"VPS33B",1,110,"非同义",12220,"1.0000=140/140",null,26276,"15q26.1","NM_018668",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35726",164,81,0.49,{"$nulls":3},"A有","32630A","VSX1","chr20:25059442","c.650G>A(exon3)","p.R217H","rs6138482",0.22,0.56,0.58,0.54,0.57,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"圆锥角膜1","AD",148300,5,1,1,3,"VSX1",0.92,60,"非同义",12220,"0.4787=90/188",null,30813,"20p11.21","NM_199425",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35752",74,31,0.42,{"$nulls":3},"A有","32630A","VWA5B1","chr1:20671961","c.2639G>A(exon17)","p.R880H","rs11582960",0.3,0.43,0.44,0.41,0.47,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"VWA5B1",1,73,"非同义",12210,"0.4353=37/85",null,127731,"1p36.12","NM_001039500",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35778",198,101,0.51,{"$nulls":3},"A有","32630A","VWDE","chr7:12400837","c.3095C>T(exon15)","p.T1032M","rs2053380",0.76,0.72,0.68,0.77,0.74,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"VWDE",1,170,"非同义",12220,"0.5177=117/226",null,221806,"7p21.3","NM_001135924",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35815",23,15,0.65,{"$nulls":3},"A有","32630A","WBSCR17","chr7:70597884","c.96G>A(exon1)","p.A32A","rs61741535",0.06,0.12,0.13,0.097,0.099,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"WBSCR17",1,120,"同义",13203,"0.6250=15/24",null,64409,"7q11.23","NM_022479",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35845",88,44,0.5,{"$nulls":3},"A有","32630A","WDR11","chr10:122665459","c.3363C>G(exon27)","p.V1121V","rs3740307",0.16,0.33,0.31,0.35,0.29,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"促性腺激素分泌不足的性腺功能低下症,伴或不伴嗅觉丧失14型","AD",614858,5,1,8,1,"WDR11",1,200,"同义",13203,"0.4894=46/94",null,55717,"10q26","NM_018117",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35875",130,130,1,{"$nulls":3},"A有","32630A","WDR33","chr2:128495645","c.725-17C>T(exon8)","非编码区","rs6754215",0.51,0.39,0.4,0.38,0.45,0.41,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"WDR33",1,120,"非编码区",16202,"1.0000=143/143",null,55339,"2q14.3","NM_001006623",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35900",3,3,1,{"$nulls":3},"A有","32630A","WDR44","chrX:117480160","c.-307T>G(exon1)","非编码区","rs1716785",null,0.038,0.063,0.013,null,null,"半合子","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"WDR44",1,120,"非编码区",14300,"1.0000=3/3",null,54521,"Xq24","NM_019045",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35942",29,15,0.52,{"$nulls":3},"A有","32630A","WDR62","chr19:36558712","c.700-18C>T(exon7)","非编码区","rs10423651",0.25,0.27,0.31,0.23,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","常染色体隐性原发性小头畸形2型伴或不伴皮质发育畸形","AR",604317,5,3,5,1,"WDR62",1,59,"非编码区",16202,"0.4839=15/31",null,284403,"19q13.12","NM_001083961",null,"rs10423651|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v35997",32,16,0.5,{"$nulls":3},"A有","32630A","WDR81","chr17:1636934","c.4603A>G(exon7)","p.M1535V","rs3809870",0.28,0.5,0.5,0.49,0.51,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","小脑性共济失调、智力低下和平衡失调综合征2型","AR",610185,5,3,10,1,"WDR81",1,34,"非同义",12220,"0.4857=17/35",null,124997,"17p13.3","NM_001163809",null,"MET1535VAL|Likely benign|NA|NA|no assertion criteria provided|NA;rs3809870|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36027",13,10,0.77,{"$nulls":3},"A有","32630A","WDR90","chr16:708275","c.2697C>A(exon22)","p.H899Q","rs45613635",0.34,0.66,0.69,0.64,0.66,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"WDR90",1,41,"非同义",12210,"0.7692=10/13",null,197335,"16p13.3","NM_145294",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36086",57,57,1,{"$nulls":3},"A有","32630A","WFS1","chr4:6292915","c.461-9A>G(exon5)","非编码区","rs10010131",0.73,0.93,0.87,0.98,0.94,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;18040659;18060660;18426861;18591388","WOLFRAM 样综合征（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AD",614296,5,1,13,5,"WFS1",1,54,"非编码区",16202,"1.0000=65/65",null,7466,"4p16.1","NM_006005",null,"rs10010131|Benign;Likely benign;association|NA|OMIM:606201.0021|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36088",69,69,1,{"$nulls":3},"A有","32630A","WFS1","chr4:6302519","c.997G>A(exon8)","p.V333I","rs1801212",0.88,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;21726277","WOLFRAM 样综合征（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AD",614296,5,1,13,5,"WFS1",1,54,"非同义",12220,"1.0000=76/76",null,7466,"4p16.1","NM_006005","VAL333ILE|\"Wolframin_variant\"|21726277","VAL333ILE|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36101",118,66,0.56,{"$nulls":3},"A有","32630A","WIF1","chr12:65448986","c.930C>T(exon9)","p.C310C","rs1026024",0.061,0.18,0.19,0.17,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"WIF1",1,160,"同义",13203,"0.5606=74/132",null,11197,"12q14.3","NM_007191",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36124",4,4,1,{"$nulls":3},"A有","32630A","WNK1","chr12:862641","c.-91T>G(exon1)","非编码区","rs3088353",0.34,0.32,0.31,0.32,0.31,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19347040,"遗传性感觉自主神经病IIA型","AR",201300,5,1,10,2,"WNK1",0.97,120,"非编码区",14200,"1.0000=4/4",null,65125,"12p13.3","NM_001184985",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36172",8,8,1,{"$nulls":3},"A有","32630A","WT1","chr11:32456562","c.330C>T(exon1)","p.P110P","rs1799925",0.3,0.7,0.68,0.73,0.71,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","肾病综合征4型（伴弥漫性系膜硬化）","AR",256370,5,1,3,6,"WT1",1,78,"同义",13203,"1.0000=8/8",null,7490,"11p13","NM_024426",null,"rs1799925|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36191",18,10,0.56,{"$nulls":3},"A有","32630A","WWOX","chr16:79245746","c.*53C>A(exon9)","非编码区","rs146481440",0.008,0.017,0.029,0.0049,0.012,0.022,"杂合","未知","UTR突变可能影响蛋白翻译",null,"脊髓小脑性共济失调12","AR",614322,3,3,6,2,"WWOX",1,140,"非编码区",14100,"0.5714=12/21",null,51741,"16q23.3-q24.1","NM_016373",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36220",46,23,0.5,{"$nulls":3},"A有","32630A","XIRP1","chr3:39226127","c.4810G>A(exon2)","p.G1604R","rs3732383",0.13,0.12,0.15,0.097,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"XIRP1",1,45,"非同义",12220,"0.5192=27/52",null,165904,"3p22.2","NM_194293",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36287",118,63,0.53,{"$nulls":3},"A有","32630A","YBX2","chr17:7192091","c.*16G>A(exon8)","非编码区","rs222842",0.47,0.38,0.36,0.39,0.38,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"YBX2",1,57,"非编码区",14200,"0.5522=74/134",null,51087,"17p13.1","NM_015982",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36313",167,79,0.47,{"$nulls":3},"A有","32630A","YME1L1","chr10:27434483","c.376C>T(exon4)","p.L126L","rs2274634",0.35,0.58,0.57,0.59,0.54,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"YME1L1",1,210,"同义",13203,"0.4603=87/189",null,10730,"10p14","NM_139312",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36343",82,40,0.49,{"$nulls":3},"A有","32630A","ZADH2","chr18:72914280","c.225C>T(exon2)","p.N75N","rs7230037",0.3,0.5,0.5,0.5,0.49,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZADH2",1,81,"同义",13203,"0.4725=43/91",null,284273,"18q22.3","NM_175907",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36412",26,11,0.42,{"$nulls":3},"A有","32630A","ZBTB42","chr14:105268228","c.694G>A(exon2)","p.E232K","rs4983387",0.59,0.3,0.35,0.26,0.3,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZBTB42",1,33,"非同义",12220,"0.4138=12/29",null,100128927,"14q32.33","NM_001137601",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36439",74,74,1,{"$nulls":3},"A有","32630A","ZBTB9","chr6:33422976","c.99T>G(exon2)","p.S33S","rs3119025",0.97,0.99,1,0.99,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZBTB9",1,62,"同义",13203,"1.0000=80/80",null,221504,"6p21.32","NM_152735",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v36542",139,62,0.45,{"$nulls":3},"A有","32630A","ZFC3H1","chr12:72030252","c.2100+18A>G(exon9)","非编码区","rs1149006",0.41,0.17,0.18,0.17,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZFC3H1",1,170,"非编码区",16203,"0.4679=73/156",null,196441,"12q21.1","NM_144982",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v36600",93,93,1,{"$nulls":3},"A有","32630A","ZFYVE16","chr5:79773028","c.4462-10T>G(exon19)","非编码区","rs166062",0.76,0.91,0.91,0.9,0.95,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZFYVE16",1,180,"非编码区",16202,"1.0000=104/104",null,9765,"5q14","NM_001105251",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36626",70,32,0.46,{"$nulls":3},"A有","32630A","ZHX2","chr8:123964953","c.1203C>T(exon3)","p.T401T","rs3808600",0.23,0.12,0.12,0.13,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZHX2",1,110,"同义",13203,"0.4557=36/79",null,22882,"8q24.13","NM_014943",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36695",158,158,1,{"$nulls":3},"A有","32630A","ZNF117","chr7:64439613","c.336A>C(exon4)","p.K112N","rs3807068",0.39,0.38,0.39,0.37,0.36,0.4,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZNF117",1,190,"非同义",12210,"1.0000=186/186",null,51351,"7q11.21","NM_015852",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36725",185,39,0.21,{"$nulls":3},"A有","32630A","ZNF141","chr4:338156","c.163T>A(exon3)","p.C55S","rs79227679",{"$nulls":4},0.048,0.0046,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"轴后多指趾畸形A6型","AR",615226,2,3,6,1,"ZNF141",1,220,"非同义",12310,"0.2180=46/211",null,7700,"4p16.3","NM_003441",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","疑似阳性"]
["32630A(747)v36756",117,117,1,{"$nulls":3},"A有","32630A","ZNF16","chr8:146156247","c.1926G>T(exon4)","p.S642S","rs3735789",0.3,0.35,0.36,0.34,0.35,0.35,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF16",1,110,"同义",13203,"1.0000=136/136",null,7564,"8q24","NM_001029976",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36819",97,43,0.44,{"$nulls":3},"A有","32630A","ZNF215","chr11:6953858","c.355A>G(exon3)","p.M119V","rs11041108",0.26,0.36,0.36,0.36,0.39,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF215",1,170,"非同义",12220,"0.4206=45/107",null,7762,"11p15.4","NM_013250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36845",110,53,0.48,{"$nulls":3},"A有","32630A","ZNF227","chr19:44739303","c.720T>C(exon6)","p.N240N","rs2279073",0.42,0.43,0.4,0.47,0.42,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF227",1,200,"同义",13203,"0.5079=64/126",null,7770,"-","NM_182490",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36882",216,100,0.46,{"$nulls":3},"A有","32630A","ZNF268","chr12:133780851","c.2579G>C(exon6)","p.R860T","rs62644541",0.14,0.12,0.13,0.11,0.11,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF268",1,180,"非同义",12220,"0.4545=115/253",null,10795,"12q24.33","NM_001165881",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36960",111,61,0.55,{"$nulls":3},"A有","32630A","ZNF292","chr6:87969480","c.6133G>A(exon8)","p.V2045I","rs6910541",0.11,0.099,0.076,0.12,0.13,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF292",1,140,"非同义",12220,"0.5620=68/121",null,23036,"6q14.3","NM_015021",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v36986",72,72,1,{"$nulls":3},"A有","32630A","ZNF324","chr19:58982384","c.525A>G(exon4)","p.R175R","rs10418774",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF324",1,83,"同义",13203,"1.0000=87/87",null,25799,"19q13.43","NM_014347",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37015",47,18,0.38,{"$nulls":3},"A有","32630A","ZNF354B","chr5:178311353","c.*61G>C(exon5)","非编码区","rs74462474",0.031,0.12,0.14,0.1,0.11,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF354B",1,200,"非编码区",14100,"0.3800=19/50",null,117608,"5q35.3","NM_058230",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37097",29,29,1,{"$nulls":3},"A有","32630A","ZNF43","chr19:21990263","c.*146G>A(exon7)","非编码区","rs6511296",0.94,0.99,0.99,0.99,0.99,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF43",1,170,"非编码区",14200,"1.0000=33/33",null,7594,"19p13.1-p12","NM_001256648",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37122",132,70,0.53,{"$nulls":3},"A有","32630A","ZNF44","chr19:12384580","c.634A>G(exon5)","p.T212A","rs11879168",0.2,0.3,0.28,0.31,0.3,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF44",1,200,"非同义",12210,"0.5203=77/148",null,51710,"19p13.2","NM_001164276",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37144",14,14,1,{"$nulls":3},"A有","32630A","ZNF469","chr16:88495407","c.1529G>C(exon1)","p.G510A","rs7199961",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脆性角膜综合症1型","AR",229200,5,1,18,1,"ZNF469",1,41,"非同义",12220,"1.0000=16/16",null,84627,"16q24","NM_001127464",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37170",292,154,0.53,{"$nulls":3},"A有","32630A","ZNF479","chr7:57188718","c.404A>G(exon5)","p.Y135C","rs62464802",0.33,0.63,0.63,0.63,0.54,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF479",1,230,"非同义",12220,"0.5355=196/366",null,90827,"7p11.2","NM_033273",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37241",332,73,0.22,{"$nulls":3},"A有","32630A","ZNF519","chr18:14124330","c.130+19C>T(exon2)","非编码区",{"$nulls":5},0.021,null,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,10,0,"ZNF519",1,160,"非编码区",16403,"0.2526=98/388",null,162655,"18p11.21","NM_145287",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37278",94,94,1,{"$nulls":3},"A有","32630A","ZNF548","chr19:57909872","c.253G>A(exon4)","p.A85T","rs4801478",0.91,0.82,0.8,0.84,0.8,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF548",1,180,"非同义",12220,"1.0000=100/100",null,147694,"19q13.43","NM_001172773",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37296",25,25,1,{"$nulls":3},"A有","32630A","ZNF564","chr19:12662318-12662319","c.-173(exon1)_c.-172(exon1)insG","非编码区","rs386365455",null,1,1,1,0.54,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF564",1,190,"非编码区",2430,"1.0000=29/29",null,163050,"19p13.2","NM_144976",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37371",6,6,1,{"$nulls":3},"A有","32630A","ZNF598","chr16:2059674","c.75A>G(exon1)","p.G25G","rs71384660",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF598",1,32,"同义",13203,"1.0000=6/6",null,90850,"16p13.3","NM_178167",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37397",117,54,0.46,{"$nulls":3},"A有","32630A","ZNF615","chr19:52497250","c.1112C>T(exon7)","p.T371I","rs1978717",0.48,0.38,0.4,0.35,0.34,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF615",0.99,160,"非同义",12220,"0.4681=66/141",null,284370,"19q13.41","NM_001199324",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37449",97,97,1,{"$nulls":3},"A有","32630A","ZNF654","chr3:88189341","c.881T>C(exon1)","p.I294T","rs7653652",0.78,0.82,0.84,0.81,0.85,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF654",1,150,"非同义",12220,"1.0000=113/113",null,55279,"3p11.1","NM_018293",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37505",45,23,0.51,{"$nulls":3},"A有","32630A","ZNF683","chr1:26694260","c.143A>G(exon3)","p.D48G","rs10794532",0.34,0.58,0.6,0.56,0.54,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25854761,{"$nulls":3},5,null,2,0,"ZNF683",1,59,"非同义",12210,"0.5306=26/49",null,257101,"1p36.11","NM_001114759","ASP48GLY|\"Psoriasis_association_with\"|25854761",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37528",226,122,0.54,{"$nulls":3},"A有","32630A","ZNF701","chr19:53086124","c.1010C>A(exon5)","p.T337K","rs373554",0.64,0.49,0.47,0.51,0.54,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF701",1,250,"非同义",12220,"0.5338=142/266",null,55762,"19q13.41","NM_001172655",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37564",117,59,0.5,{"$nulls":3},"A有","32630A","ZNF713","chr7:55991293","c.176-7T>C(exon3)","非编码区","rs2174459",0.34,0.26,0.26,0.27,0.33,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF713",1,140,"非编码区",16202,"0.4892=68/139",null,349075,"7p11.2","NM_182633",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37629",433,134,0.31,{"$nulls":3},"A有","32630A","ZNF717","chr3:75786754","c.2020C>A(exon5)","p.R674S","rs77394685",{"$nulls":4},0.34,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,137,0,"ZNF717",1,420,"非同义",12320,"0.3139=156/497",null,100131827,"3p12.3","NM_001128223",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37662",292,192,0.66,{"$nulls":3},"A有","32630A","ZNF717","chr3:75787794","c.980T>C(exon5)","p.I327T","rs75467043",{"$nulls":4},0.5,0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,137,0,"ZNF717",1,420,"非同义",12320,"0.6708=218/325",null,100131827,"3p12.3","NM_001128223",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37692",284,196,0.69,{"$nulls":3},"A有","32630A","ZNF717","chr3:75788281","c.493A>G(exon5)","p.M165V","rs76243986",{"$nulls":4},0.5,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,137,0,"ZNF717",1,420,"非同义",12320,"0.6814=231/339",null,100131827,"3p12.3","NM_001128223",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37718",198,109,0.55,{"$nulls":3},"A有","32630A","ZNF727","chr7:63529956","c.195G>A(exon3)","p.A65A","rs4349869",0.56,0.47,0.47,0.48,0.46,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF727",1,230,"同义",13203,"0.5560=134/241",null,442319,"7q11.21","NM_001159522",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37791",146,53,0.36,{"$nulls":3},"A有","32630A","ZNF778","chr16:89291945-89291946","c.329-18(exon6)_c.329-17(exon6)insT","非编码区","rs11464538",null,0.89,0.88,0.9,0.59,0.86,"杂合","未知","内含子突变",{"$nulls":4},4,null,15,0,"ZNF778",1,130,"非编码区",2500,"0.3540=57/161",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37799",98,51,0.52,{"$nulls":3},"A有","32630A","ZNF778","chr16:89294511","c.1815C>T(exon7)","p.T605T","rs28638280",0.77,0.89,0.88,0.9,0.9,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"ZNF778",1,130,"同义",13203,"0.5000=59/118",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37800",109,62,0.57,{"$nulls":3},"A有","32630A","ZNF778","chr16:89294697","c.2001C>T(exon7)","p.H667H","rs60437616",0.7,0.68,0.68,0.68,0.7,0.7,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"ZNF778",1,130,"同义",13203,"0.5902=72/122",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37813",94,45,0.48,{"$nulls":3},"A有","32630A","ZNF789","chr7:99081730","c.229A>G(exon4)","p.T77A","rs6962772",0.46,0.34,0.35,0.33,0.33,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF789",1,140,"非同义",12220,"0.4775=53/111",null,285989,"7q22.1","NM_213603",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37816",114,55,0.48,{"$nulls":3},"A有","32630A","ZNF792","chr19:35449409","c.1350C>T(exon4)","p.H450H","rs2651081",0.33,0.19,0.18,0.21,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,100,"同义",13203,"0.4841=61/126",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37817",78,35,0.45,{"$nulls":3},"A有","32630A","ZNF792","chr19:35449760","c.999C>G(exon4)","p.T333T","rs2651080",0.32,0.19,0.18,0.21,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,100,"同义",13203,"0.4270=38/89",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37819",41,41,1,{"$nulls":3},"A有","32630A","ZNF792","chr19:35454604","c.-38T>G(exon1)","非编码区","rs2546028",0.64,0.65,0.67,0.63,0.62,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,100,"非编码区",14200,"1.0000=45/45",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37821",2,2,1,{"$nulls":3},"A有","32630A","ZNF793","chr19:38031067","c.*2286T>C(exon8)","非编码区","rs4803215",0.37,0.6,0.62,0.59,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF793",1,160,"非编码区",14200,"1.0000=2/2",null,390927,"19q13.12","NM_001013659",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37823",186,99,0.53,{"$nulls":3},"A有","32630A","ZNF799","chr19:12502457","c.755T>C(exon4)","p.L252P","rs4804669",0.72,0.54,0.5,0.58,0.53,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF799",1,260,"非同义",12220,"0.5120=107/209",null,90576,"19p13.2","NM_001080821",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37878",99,39,0.39,{"$nulls":3},"A有","32630A","ZNF80","chr3:113955265","c.657C>T(exon1)","p.C219C","rs6438190",0.69,0.56,0.59,0.53,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"同义",13203,"0.4397=51/116",null,7634,"3q13.3","NM_007136",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37879",99,39,0.39,{"$nulls":3},"A有","32630A","ZNF80","chr3:113955320","c.602G>A(exon1)","p.R201H","rs6438191",0.69,0.56,0.59,0.53,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"非同义",12220,"0.4561=52/114",null,7634,"3q13.3","NM_007136",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37880",64,31,0.48,{"$nulls":3},"A有","32630A","ZNF80","chr3:113955820","c.102C>G(exon1)","p.S34S","rs3732780",0.31,0.38,0.42,0.34,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"同义",13203,"0.5316=42/79",null,7634,"3q13.3","NM_007136",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37827",72,72,1,{"$nulls":3},"A有","32630A","ZNF804A","chr2:185800905","c.782A>T(exon4)","p.Q261L","rs12476147",0.62,0.85,0.88,0.81,0.83,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF804A",1,130,"非同义",12220,"1.0000=87/87",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37828",83,83,1,{"$nulls":3},"A有","32630A","ZNF804A","chr2:185801747","c.1624G>A(exon4)","p.E542K","rs4667001",0.49,0.86,0.89,0.83,0.84,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19844207;23155182",{"$nulls":3},5,null,7,0,"ZNF804A",1,130,"非同义",12220,"1.0000=91/91",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37829",82,82,1,{"$nulls":3},"A有","32630A","ZNF804A","chr2:185801755","c.1632A>G(exon4)","p.T544T","rs4667002",0.79,0.89,0.91,0.87,0.9,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF804A",1,130,"同义",13203,"1.0000=90/90",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37831",96,96,1,{"$nulls":3},"A有","32630A","ZNF804A","chr2:185802243","c.2120C>A(exon4)","p.T707K","rs1366842",0.49,0.86,0.89,0.83,0.84,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","14681825;22871346",{"$nulls":3},5,null,7,0,"ZNF804A",1,130,"非同义",12220,"1.0000=103/103",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37832",56,56,1,{"$nulls":3},"A有","32630A","ZNF804A","chr2:185802363","c.2240A>G(exon4)","p.H747R","rs12477430",0.7,0.88,0.9,0.85,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19844207,{"$nulls":3},5,null,7,0,"ZNF804A",1,130,"非同义",12220,"1.0000=62/62",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37908",2,2,1,{"$nulls":3},"A有","32630A","ZNF831","chr20:57834150","c.*4352A>T(exon5)","非编码区","rs2273869",0.55,0.74,0.78,0.71,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF831",1,65,"非编码区",14200,"1.0000=4/4",null,128611,"20q13.32","NM_178457",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37909",66,66,1,{"$nulls":3},"A有","32630A","ZNF835","chr19:57175484","c.1083T>C(exon2)","p.P361P","rs7250003",0.47,0.47,0.46,0.47,0.49,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF835",1,79,"同义",13203,"1.0000=77/77",null,90485,"19q13.43","NM_001005850",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v37911",85,85,1,{"$nulls":3},"A有","32630A","ZNF835","chr19:57176304","c.263A>C(exon2)","p.E88A","rs12460400",0.4,0.46,0.46,0.47,0.48,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF835",1,79,"非同义",12220,"1.0000=98/98",null,90485,"19q13.43","NM_001005850",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37912",47,47,1,{"$nulls":3},"A有","32630A","ZNF835","chr19:57176482","c.85G>A(exon2)","p.E29K","rs12462469",0.41,0.46,0.46,0.47,0.48,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF835",1,79,"非同义",12220,"1.0000=53/53",null,90485,"19q13.43","NM_001005850",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37913",117,58,0.5,{"$nulls":3},"A有","32630A","ZNF836","chr19:52659991","c.945T>C(exon5)","p.Y315Y","rs1821278",0.5,0.59,0.6,0.58,0.57,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF836",1,170,"同义",13203,"0.5037=68/135",null,162962,"19q13.41","NM_001102657",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37914",100,54,0.54,{"$nulls":3},"A有","32630A","ZNF836","chr19:52660279","c.657G>A(exon5)","p.M219I","rs1366245",0.48,0.59,0.6,0.58,0.57,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF836",1,170,"非同义",12220,"0.5398=61/113",null,162962,"19q13.41","NM_001102657",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37915",71,37,0.52,{"$nulls":3},"A有","32630A","ZNF836","chr19:52660783","c.153T>C(exon5)","p.P51P","rs17696575",0.2,0.19,0.17,0.21,0.21,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF836",1,170,"同义",13203,"0.5185=42/81",null,162962,"19q13.41","NM_001102657",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37916",21,11,0.52,{"$nulls":3},"A有","32630A","ZNF837","chr19:58879660","c.1040A>G(exon3)","p.Y347C","rs61746138",0.15,0.33,0.3,0.36,0.29,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"非同义",12220,"0.5417=13/24",null,116412,"19q13.43","NM_138466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37917",27,11,0.41,{"$nulls":3},"A有","32630A","ZNF837","chr19:58879701","c.999G>C(exon3)","p.A333A","rs61746129",0.15,0.33,0.3,0.36,0.29,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"同义",13203,"0.4138=12/29",null,116412,"19q13.43","NM_138466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37918",15,15,1,{"$nulls":3},"A有","32630A","ZNF837","chr19:58879965","c.735T>C(exon3)","p.S245S","rs7255489",0.88,0.91,0.93,0.89,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"同义",13203,"1.0000=15/15",null,116412,"19q13.43","NM_138466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37919",13,13,1,{"$nulls":3},"A有","32630A","ZNF837","chr19:58879976","c.724G>A(exon3)","p.A242T","rs7255596",0.88,0.91,0.93,0.89,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"非同义",12220,"1.0000=13/13",null,116412,"19q13.43","NM_138466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37920",10,4,0.4,{"$nulls":3},"A有","32630A","ZNF837","chr19:58880016","c.684C>G(exon3)","p.A228A","rs7255916",0.12,0.33,0.3,0.36,0.3,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"同义",13203,"0.5000=6/12",null,116412,"19q13.43","NM_138466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37921",40,18,0.45,{"$nulls":3},"A有","32630A","ZNF837","chr19:58880184","c.516A>G(exon3)","p.P172P","rs7256809",0.15,0.33,0.3,0.36,0.29,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"同义",13203,"0.4651=20/43",null,116412,"19q13.43","NM_138466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37922",45,15,0.33,{"$nulls":3},"A有","32630A","ZNF837","chr19:58880242","c.458A>G(exon3)","p.Q153R","rs7256940",0.15,0.33,0.3,0.37,0.3,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF837",1,29,"非同义",12220,"0.3265=16/49",null,116412,"19q13.43","NM_138466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37923",84,84,1,{"$nulls":3},"A有","32630A","ZNF839","chr14:102808330","c.2598C>T(exon8)","p.V866V","rs12590618",0.27,0.5,0.53,0.48,0.47,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF839",1,90,"同义",13203,"1.0000=94/94",null,55778,"14q32.31","NM_018335",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37924",8,8,1,{"$nulls":3},"A有","32630A","ZNF839","chr14:102808655","c.*139G>C(exon8)","非编码区","rs11704",0.27,0.51,0.54,0.48,0.46,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF839",1,90,"非编码区",14200,"1.0000=9/9",null,55778,"14q32.31","NM_018335",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37942",106,46,0.43,{"$nulls":3},"A有","32630A","ZNF84","chr12:133633536","c.239-4A>G(exon5)","非编码区","rs202097614",{"$nulls":4},0.14,null,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"ZNF84",1,280,"非编码区",16302,"0.4463=54/121",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37943",170,95,0.56,{"$nulls":3},"A有","32630A","ZNF84","chr12:133633610","c.309A>T(exon5)","p.R103S","rs202216892",{"$nulls":4},0.019,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ZNF84",1,280,"非同义",12320,"0.5495=111/202",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37944",213,213,1,{"$nulls":3},"A有","32630A","ZNF84","chr12:133634450","c.1149A>C(exon5)","p.A383A","rs623100",{"$nulls":4},1,null,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ZNF84",1,280,"同义",13303,"1.0000=230/230",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37945",42,42,1,{"$nulls":3},"A有","32630A","ZNF84","chr12:133635613","c.*95T>C(exon5)","非编码区","rs114972238",{"$nulls":4},1,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ZNF84",1,280,"非编码区",14300,"1.0000=52/52",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37933",119,53,0.45,{"$nulls":3},"A有","32630A","ZNF841","chr19:52570714","c.421G>C(exon7)","p.V141L","rs16983412",0.2,0.14,0.13,0.16,0.13,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF841",1,180,"非同义",12220,"0.4603=58/126",null,284371,"19q13.41","NM_001136499",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37934",121,51,0.42,{"$nulls":3},"A有","32630A","ZNF841","chr19:52570783","c.352T>C(exon7)","p.L118L","rs16983414",0.2,0.14,0.13,0.16,0.13,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF841",1,180,"同义",13203,"0.4286=57/133",null,284371,"19q13.41","NM_001136499",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37935",63,29,0.46,{"$nulls":3},"A有","32630A","ZNF844","chr19:12175667","c.-22G>C(exon1)","非编码区","rs564178735",0.0008,0.0072,0.0095,0.0049,0.0074,0.0065,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF844",1,240,"非编码区",14100,"0.4571=32/70",null,284391,"19p13.2","NM_001136501",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37936",223,113,0.51,{"$nulls":3},"A有","32630A","ZNF845","chr19:53844513","c.-48C>T(exon2)","非编码区","rs3746311",0.07,0.091,0.12,0.063,0.11,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"非编码区",14200,"0.5111=138/270",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37937",457,256,0.56,{"$nulls":3},"A有","32630A","ZNF845","chr19:53848779","c.36T>C(exon3)","p.D12D","rs75887836",0.13,0.13,0.15,0.12,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"同义",13203,"0.5483=312/569",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37938",526,280,0.53,{"$nulls":3},"A有","32630A","ZNF845","chr19:53848837","c.94C>T(exon3)","p.L32L","rs56683540",0.13,0.13,0.14,0.12,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"同义",13203,"0.5264=349/663",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37939",515,273,0.53,{"$nulls":3},"A有","32630A","ZNF845","chr19:53848845","c.102G>A(exon3)","p.R34R","rs57319493",0.13,0.13,0.14,0.12,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"同义",13203,"0.5207=339/651",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37940",245,128,0.52,{"$nulls":3},"A有","32630A","ZNF845","chr19:53854753","c.825T>C(exon4)","p.D275D","rs187114554",0.0002,0.0024,0,0.0049,6.3E-3,0.0037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"ZNF845",1,300,"同义",13103,"0.5216=157/301",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37941",251,118,0.47,{"$nulls":3},"A有","32630A","ZNF845","chr19:53856349","c.2421A>T(exon4)","p.E807D","rs55874600",0.2,0.091,0.09,0.092,0.1,0.094,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF845",1,300,"非同义",12220,"0.4642=136/293",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37950",2,2,1,{"$nulls":3},"A有","32630A","ZNF85","chr19:21125710","c.*69T>A(exon4)","非编码区","rs12983551",0.36,0.42,0.47,0.37,0.41,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF85",0.97,190,"非编码区",14200,"1.0000=2/2",null,7639,"19p12","NM_001256172",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37947",50,50,1,{"$nulls":3},"A有","32630A","ZNF853","chr7:6656830","c.22G>A(exon2)","p.G8R","rs2243563",0.74,0.76,0.76,0.76,0.75,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,60,"非同义",12220,"1.0000=55/55",null,54753,"7p22.1","NM_017560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37948",46,46,1,{"$nulls":3},"A有","32630A","ZNF853","chr7:6656897","c.89A>G(exon2)","p.Q30R","rs1806552",0.77,0.76,0.76,0.77,0.75,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,60,"非同义",12220,"1.0000=52/52",null,54753,"7p22.1","NM_017560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37949",52,30,0.58,{"$nulls":3},"A有","32630A","ZNF853","chr7:6660790","c.168G>A(exon3)","p.E56E","rs940873",0.41,0.55,0.54,0.55,0.54,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,60,"同义",13203,"0.5593=33/59",null,54753,"7p22.1","NM_017560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37951",47,19,0.4,{"$nulls":3},"A有","32630A","ZNF862","chr7:149543269","c.166C>T(exon3)","p.R56C","rs62621204",0.18,0.22,0.25,0.19,0.27,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"非同义",12220,"0.3846=20/52",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37952",65,37,0.57,{"$nulls":3},"A有","32630A","ZNF862","chr7:149556518","c.1125C>T(exon6)","p.A375A","rs4725833",0.53,0.37,0.34,0.4,0.35,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"同义",13203,"0.5128=40/78",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37953",16,10,0.62,{"$nulls":3},"A有","32630A","ZNF862","chr7:149558409","c.2160G>C(exon7)","p.L720L","rs2240361",0.38,0.33,0.33,0.33,0.33,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"同义",13203,"0.5882=10/17",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37954",42,26,0.62,{"$nulls":3},"A有","32630A","ZNF862","chr7:149559273","c.3024C>T(exon7)","p.L1008L","rs2074700",0.37,0.33,0.33,0.33,0.32,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"同义",13203,"0.6042=29/48",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37955",48,28,0.58,{"$nulls":3},"A有","32630A","ZNF862","chr7:149559465","c.3216C>T(exon7)","p.G1072G","rs2074701",0.44,0.33,0.33,0.33,0.32,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF862",1,81,"同义",13203,"0.5472=29/53",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37956",143,65,0.45,{"$nulls":3},"A有","32630A","ZNF879","chr5:178459283","c.334A>G(exon5)","p.T112A","rs17078988",0.36,0.46,0.49,0.43,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF879",1,160,"非同义",12220,"0.4379=74/169",null,345462,"5q35.3","NM_001136116",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37957",155,71,0.46,{"$nulls":3},"A有","32630A","ZNF879","chr5:178459426","c.477A>C(exon5)","p.E159D","rs17078991",0.36,0.46,0.49,0.43,0.43,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF879",1,160,"非同义",12220,"0.4509=78/173",null,345462,"5q35.3","NM_001136116",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37958",129,58,0.45,{"$nulls":3},"A有","32630A","ZNF880","chr19:52887146-52887146","c.313(exon4)delA","p.K105Kfs*6","rs34470614",{"$nulls":4},0.044,0.37,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,9,0,"ZNF880",1,220,"移码",2130,"0.4467=67/150",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+简单重复结构","非阳性"]
["32630A(747)v37959",138,55,0.4,{"$nulls":3},"A有","32630A","ZNF880","chr19:52887246-52887247","c.413(exon4)_c.414(exon4)insCAA","p.I138delinsIN","rs34678014",{"$nulls":4},0.23,0.37,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"ZNF880",1,220,"非移码",2233,"0.4038=63/156",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37960",116,51,0.44,{"$nulls":3},"A有","32630A","ZNF880","chr19:52887382","c.549G>A(exon4)","p.P183P","rs74256648",0.014,0.05,0.043,0.058,0.06,0.09,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF880",1,220,"同义",13103,"0.4370=59/135",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37961",129,66,0.51,{"$nulls":3},"A有","32630A","ZNF880","chr19:52887427","c.594A>C(exon4)","p.R198S","rs8104808",0.38,0.3,0.33,0.27,0.28,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF880",1,220,"非同义",12220,"0.5232=79/151",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37962",136,69,0.51,{"$nulls":3},"A有","32630A","ZNF880","chr19:52887437","c.604A>C(exon4)","p.N202H","rs8104812",0.38,0.3,0.33,0.27,0.28,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF880",1,220,"非同义",12220,"0.5190=82/158",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37963",152,70,0.46,{"$nulls":3},"A有","32630A","ZNF880","chr19:52887904","c.1071T>C(exon4)","p.C357C","rs2042913",{"$nulls":4},0.28,0.31,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF880",1,220,"同义",13303,"0.4536=83/183",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37964",186,109,0.59,{"$nulls":3},"A有","32630A","ZNF880","chr19:52888210","c.1377T>C(exon4)","p.T459T","rs56151179",{"$nulls":4},0.28,0.35,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF880",1,220,"同义",13303,"0.5946=132/222",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37965",193,110,0.57,{"$nulls":3},"A有","32630A","ZNF880","chr19:52888245","c.1412A>G(exon4)","p.K471R","rs55748277",0.41,0.31,0.34,0.27,0.28,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF880",1,220,"非同义",12210,"0.5787=136/235",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37966",92,50,0.54,{"$nulls":3},"A有","32630A","ZNF880","chr19:52888620","c.*53T>G(exon4)","非编码区","rs3170100",0.42,0.31,0.34,0.27,0.28,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF880",1,220,"非编码区",14200,"0.5472=58/106",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37973",111,110,0.99,{"$nulls":3},"A有","32630A","ZNF90","chr19:20229486","c.1123G>A(exon4)","p.G375S","rs1725935",0.23,0.5,0.45,0.56,0.59,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF90",1,220,"非同义",12210,"0.9922=127/128",null,7643,"19p12","NM_007138",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37974",56,56,1,{"$nulls":3},"A有","32630A","ZNF90","chr19:20230264","c.*95T>A(exon4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF90",1,220,"非编码区",14200,"1.0000=62/62",null,7643,"19p12","NM_007138",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37975",5,2,0.4,{"$nulls":3},"A有","32630A","ZNF91","chr19:23541372","c.*833T>A(exon4)","非编码区","rs40561",0.62,0.81,0.8,0.81,0.83,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF91",1,170,"非编码区",14200,"0.4000=2/5",null,7644,"19p12","NM_003430",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37976",19,5,0.26,{"$nulls":3},"A有","32630A","ZNF91","chr19:23541485","c.*720C>T(exon4)","非编码区","rs3745111",0.023,0.017,0.0095,0.024,0.017,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ZNF91",1,170,"非编码区",14100,"0.3000=6/20",null,7644,"19p12","NM_003430",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37977",133,70,0.53,{"$nulls":3},"A有","32630A","ZNF91","chr19:23542697","c.3084C>G(exon4)","p.G1028G","rs1821845",0.43,0.21,0.22,0.2,0.19,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF91",1,170,"同义",13203,"0.5223=82/157",null,7644,"19p12","NM_003430",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37978",197,104,0.53,{"$nulls":3},"A有","32630A","ZNF91","chr19:23545250","c.531T>C(exon4)","p.T177T","rs1044095",0.38,0.19,0.2,0.19,0.17,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF91",1,170,"同义",13203,"0.5242=119/227",null,7644,"19p12","NM_003430",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37979",235,116,0.49,{"$nulls":3},"A有","32630A","ZNF93","chr19:20044041","c.277G>T(exon4)","p.D93Y","rs12151060",0.19,0.46,0.46,0.45,0.38,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF93",1,220,"非同义",12210,"0.5018=141/281",null,81931,"19p12","NM_031218",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37980",208,102,0.49,{"$nulls":3},"A有","32630A","ZNF98","chr19:22575488","c.549G>A(exon4)","p.K183K","rs7247735",0.4,0.46,0.49,0.42,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,310,"同义",13203,"0.4877=119/244",null,148198,"19p12","NM_001098626",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37981",552,243,0.44,{"$nulls":3},"A有","32630A","ZNF98","chr19:22586192","c.153T>C(exon2)","p.F51F","rs1368476",0.39,0.45,0.48,0.42,0.41,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,310,"同义",13203,"0.4499=323/718",null,148198,"19p12","NM_001098626",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37982",181,88,0.49,{"$nulls":3},"A有","32630A","ZNF98","chr19:22605103","c.-77C>G(exon1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,310,"非编码区",14200,"0.4509=101/224",null,148198,"19p12","NM_001098626",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37983",151,73,0.48,{"$nulls":3},"A有","32630A","ZNF98","chr19:22605120","c.-94C>A(exon1)","非编码区","rs11669356",0.34,0.44,0.47,0.4,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,310,"非编码区",14200,"0.4444=80/180",null,148198,"19p12","NM_001098626",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37984",14,7,0.5,{"$nulls":3},"A有","32630A","ZNF99","chr19:22937238","c.*2878A>G(exon4)","非编码区","rs62119143",0.088,0.084,0.071,0.097,0.065,0.061,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.5333=8/15",null,7652,"19p12","NM_001080409",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37985",30,15,0.5,{"$nulls":3},"A有","32630A","ZNF99","chr19:22937334","c.*2782C>A(exon4)","非编码区","rs62119144",0.09,0.084,0.071,0.097,0.07,0.079,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.5152=17/33",null,7652,"19p12","NM_001080409",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37986",16,7,0.44,{"$nulls":3},"A有","32630A","ZNF99","chr19:22937638","c.*2478C>T(exon4)","非编码区","rs55730636",0.09,0.084,0.071,0.097,0.064,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4211=8/19",null,7652,"19p12","NM_001080409",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37987",3,3,1,{"$nulls":3},"A有","32630A","ZNF99","chr19:22937808","c.*2308C>T(exon4)","非编码区","rs56320137",0.09,0.084,0.071,0.097,0.083,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"1.0000=4/4",null,7652,"19p12","NM_001080409",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37988",44,17,0.39,{"$nulls":3},"A有","32630A","ZNF99","chr19:22938363","c.*1753A>C(exon4)","非编码区","rs57897430",0.09,0.084,0.071,0.097,0.074,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4231=22/52",null,7652,"19p12","NM_001080409",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v37989",56,24,0.43,{"$nulls":3},"A有","32630A","ZNF99","chr19:22938430","c.*1686G>C(exon4)","非编码区","rs61754908",0.09,0.087,0.071,0.1,0.074,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"ZNF99",1,160,"非编码区",14200,"0.4559=31/68",null,7652,"19p12","NM_001080409",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32630A(747)v38027",89,45,0.51,{"$nulls":3},"A有","32630A","ZP1","chr11:60637164","c.473C>T(exon3)","p.T158I","rs489172",0.69,0.37,0.35,0.38,0.42,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,3,4,1,"ZP1",1,75,"非同义",12210,"0.5146=53/103",null,22917,"11q12.2","NM_207341",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38028",77,41,0.53,{"$nulls":3},"A有","32630A","ZP1","chr11:60638461","c.858C>T(exon5)","p.F286F","rs10897122",0.31,0.66,0.69,0.64,0.6,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,3,4,1,"ZP1",1,75,"同义",13203,"0.5244=43/82",null,22917,"11q12.2","NM_207341",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38029",80,80,1,{"$nulls":3},"A有","32630A","ZP1","chr11:60638470","c.867A>G(exon5)","p.V289V","rs566411",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,1,4,1,"ZP1",1,75,"同义",13203,"1.0000=86/86",null,22917,"11q12.2","NM_207341",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38030",139,54,0.39,{"$nulls":3},"A有","32630A","ZP2","chr16:21215672","c.747T>C(exon8)","p.P249P","rs2075526",0.32,0.41,0.43,0.39,0.42,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19855393,{"$nulls":3},5,null,3,0,"ZP2",1,150,"同义",13203,"0.3727=60/161",null,7783,"16p12","NM_003460",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38031",205,99,0.48,{"$nulls":3},"A有","32630A","ZP2","chr16:21217061","c.519C>T(exon6)","p.D173D","rs16971234",0.28,0.42,0.44,0.39,0.39,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZP2",1,150,"同义",13203,"0.4699=117/249",null,7783,"16p12","NM_003460",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38032",147,81,0.55,{"$nulls":3},"A有","32630A","ZP2","chr16:21222672","c.107G>T(exon2)","p.G36V","rs2075520",0.45,0.46,0.5,0.42,0.42,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17357082,{"$nulls":3},5,null,3,0,"ZP2",1,150,"非同义",12220,"0.5893=99/168",null,7783,"16p12","NM_003460",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38033",41,23,0.56,{"$nulls":3},"A有","32630A","ZP3","chr7:76062770","c.383-17C>A(exon5)","非编码区","rs3762031",0.11,0.12,0.11,0.14,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZP3",1,130,"非编码区",16202,"0.5870=27/46",null,7784,"7q11.23","NM_007155",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38034",95,46,0.48,{"$nulls":3},"A有","32630A","ZP3","chr7:76069811","c.790T>C(exon8)","p.S264P","rs2906999",0.59,0.57,0.54,0.61,0.62,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZP3",1,130,"非同义",12220,"0.4643=52/112",null,7784,"7q11.23","NM_007155",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38035",101,53,0.52,{"$nulls":3},"A有","32630A","ZP4","chr1:238051700-238051702","c.509(exon4)_c.511(exon4)delGTT","p.C170_Y171delinsY","rs779614581",{"$nulls":5},0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"ZP4",1,160,"非移码",2233,"0.4958=59/119",null,57829,"1q43","NM_021186",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38037",95,95,1,{"$nulls":3},"A有","32630A","ZPBP","chr7:50023122","c.784-7G>A(exon7)","非编码区","rs988392",0.78,0.88,0.88,0.89,0.91,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZPBP",1,210,"非编码区",16202,"1.0000=105/105",null,11055,"7p14.3","NM_007009",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38038",61,61,1,{"$nulls":3},"A有","32630A","ZPBP","chr7:50070921","c.488-15G>C(exon5)","非编码区","rs1351691",0.76,0.87,0.86,0.89,0.9,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZPBP",1,210,"非编码区",16202,"1.0000=65/65",null,11055,"7p14.3","NM_007009",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38036",87,37,0.43,{"$nulls":3},"A有","32630A","ZPBP2","chr17:38024839","c.90C>T(exon2)","p.G30G","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",{"$nulls":4},4,null,1,0,"ZPBP2",1,220,"同义",13103,"0.4444=44/99",null,124626,"17q12","NM_199321",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38039",96,96,1,{"$nulls":3},"A有","32630A","ZRANB2","chr1:71537943","c.379-5T>C(exon6)","非编码区","rs11209745",0.36,0.75,0.72,0.79,0.71,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZRANB2",1,240,"非编码区",16202,"1.0000=108/108",null,9406,"1p31","NM_005455",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38040",37,16,0.43,{"$nulls":3},"A有","32630A","ZRANB3","chr2:135965376","c.2637A>G(exon19)","p.P879P","rs7578111",0.27,0.19,0.22,0.17,0.2,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"同义",13203,"0.4773=21/44",null,84083,"2q21.3","NM_032143",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38041",56,29,0.52,{"$nulls":3},"A有","32630A","ZRANB3","chr2:135988127","c.1910A>T(exon13)","p.E637V","rs59900519",0.28,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非同义",12220,"0.5507=38/69",null,84083,"2q21.3","NM_032143",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38042",63,29,0.46,{"$nulls":3},"A有","32630A","ZRANB3","chr2:135988186","c.1851C>T(exon13)","p.T617T","rs58917764",0.19,0.14,0.16,0.12,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"同义",13203,"0.4737=36/76",null,84083,"2q21.3","NM_032143",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38043",71,39,0.55,{"$nulls":3},"A有","32630A","ZRANB3","chr2:135988235","c.1802G>A(exon13)","p.R601Q","rs76333606",0.077,0.079,0.081,0.078,0.082,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非同义",12220,"0.5375=43/80",null,84083,"2q21.3","NM_032143",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38044",59,29,0.49,{"$nulls":3},"A有","32630A","ZRANB3","chr2:135988416","c.1621G>A(exon13)","p.E541K","rs935615",0.27,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非同义",12220,"0.4638=32/69",null,84083,"2q21.3","NM_032143",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38045",148,69,0.47,{"$nulls":3},"A有","32630A","ZRANB3","chr2:136148401","c.162-11T>A(exon3)","非编码区","rs2043757",0.27,0.18,0.2,0.16,0.19,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非编码区",16202,"0.4353=74/170",null,84083,"2q21.3","NM_032143",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38046",148,67,0.45,{"$nulls":3},"A有","32630A","ZRANB3","chr2:136148402","c.162-12T>A(exon3)","非编码区","rs2043758",0.21,0.12,0.15,0.1,0.14,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZRANB3",1,160,"非编码区",16202,"0.4235=72/170",null,84083,"2q21.3","NM_032143",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38047",138,138,1,{"$nulls":3},"A有","32630A","ZRSR2","chrX:15838366","c.864C>T(exon10)","p.N288N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,120,"同义",13303,"1.0000=174/174",null,8233,"Xp22.1","NM_005089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38056",36,21,0.58,{"$nulls":3},"A有","32630A","ZSCAN1","chr19:58549366","c.162C>G(exon3)","p.L54L","rs159870",0.64,0.47,0.41,0.54,0.46,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN1",1,58,"同义",13203,"0.5500=22/40",null,284312,"19q13.43","NM_182572",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38057",6,3,0.5,{"$nulls":3},"A有","32630A","ZSCAN1","chr19:58549593","c.370+19C>G(exon3)","非编码区","rs2241406",0.78,0.48,0.42,0.54,0.47,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN1",1,58,"非编码区",16203,"0.5000=3/6",null,284312,"19q13.43","NM_182572",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38058",23,14,0.61,{"$nulls":3},"A有","32630A","ZSCAN1","chr19:58565431","c.*12C>T(exon6)","非编码区","rs8104122",0.26,0.29,0.27,0.32,0.26,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN1",1,58,"非编码区",14200,"0.5833=14/24",null,284312,"19q13.43","NM_182572",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38048",24,14,0.58,{"$nulls":3},"A有","32630A","ZSCAN12","chr6:28358116-28358117","c.*114(exon4)_c.*115(exon4)insT","非编码区","rs150686870",0.1,0.12,0.1,0.13,0.082,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"非编码区",2420,"0.5667=17/30",null,9753,"6p21","NM_001163391",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38049",133,58,0.44,{"$nulls":3},"A有","32630A","ZSCAN12","chr6:28358320","c.1747T>C(exon4)","p.C583R","rs1361385",0.39,0.25,0.2,0.3,0.28,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"非同义",12210,"0.4268=70/164",null,9753,"6p21","NM_001163391",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38050",141,61,0.43,{"$nulls":3},"A有","32630A","ZSCAN12","chr6:28358335","c.1732C>G(exon4)","p.R578G","rs1416918",0.39,0.25,0.2,0.3,0.28,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"非同义",12220,"0.4320=73/169",null,9753,"6p21","NM_001163391",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38051",73,44,0.6,{"$nulls":3},"A有","32630A","ZSCAN12","chr6:28358893","c.1174A>G(exon4)","p.N392D","rs2232434",0.1,0.12,0.1,0.13,0.11,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"非同义",12220,"0.6310=53/84",null,9753,"6p21","NM_001163391",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38052",90,48,0.53,{"$nulls":3},"A有","32630A","ZSCAN12","chr6:28359170","c.897T>C(exon4)","p.D299D","rs2859348",0.64,0.58,0.58,0.59,0.58,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZSCAN12",1,140,"同义",13203,"0.5333=56/105",null,9753,"6p21","NM_001163391",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38053",37,18,0.49,{"$nulls":3},"A有","32630A","ZSCAN18","chr19:58598670","c.642+13G>A(exon4)","非编码区","rs2287837",0.27,0.35,0.34,0.37,0.35,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN18",1,42,"非编码区",16203,"0.5476=23/42",null,65982,"19q13.43","NM_023926",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38054",31,18,0.58,{"$nulls":3},"A有","32630A","ZSCAN18","chr19:58598784","c.554-13T>C(exon4)","非编码区","rs2260914",0.75,0.6,0.57,0.63,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN18",1,42,"非编码区",16202,"0.6176=21/34",null,65982,"19q13.43","NM_023926",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38055",39,22,0.56,{"$nulls":3},"A有","32630A","ZSCAN18","chr19:58600048","c.553+7G>A(exon3)","非编码区","rs1529329",0.27,0.36,0.34,0.37,0.34,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN18",1,42,"非编码区",16203,"0.5714=24/42",null,65982,"19q13.43","NM_023926",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38069",83,83,1,{"$nulls":3},"A有","32630A","ZSCAN2","chr15:85149771","c.418G>T(exon3)","p.V140F","rs2271433",0.91,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN2",1,120,"非同义",12220,"1.0000=99/99",null,54993,"15q25.2","NM_017894",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38070",108,108,1,{"$nulls":3},"A有","32630A","ZSCAN2","chr15:85163998","c.572G>C(exon3)","p.S191T","rs2044502",0.88,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN2",1,120,"非同义",12220,"1.0000=120/120",null,54993,"15q25.2","NM_181877",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38059",113,55,0.49,{"$nulls":3},"A有","32630A","ZSCAN20","chr1:33957130","c.1272C>A(exon6)","p.A424A","rs3795419",0.19,0.38,0.37,0.39,0.37,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,130,"同义",13203,"0.4729=61/129",null,7579,"1p34.3","NM_145238",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38060",109,109,1,{"$nulls":3},"A有","32630A","ZSCAN20","chr1:33957152","c.1294T>G(exon6)","p.Y432D","rs4403594",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,130,"非同义",12230,"1.0000=124/124",null,7579,"1p34.3","NM_145238",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38061",190,190,1,{"$nulls":3},"A有","32630A","ZSCAN20","chr1:33960062","c.2118A>G(exon8)","p.A706A","rs9943259",0.75,0.75,0.76,0.75,0.75,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,130,"同义",13203,"1.0000=220/220",null,7579,"1p34.3","NM_145238",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38062",36,36,1,{"$nulls":3},"A有","32630A","ZSCAN20","chr1:33961147","c.*71T>G(exon8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,0.75,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,130,"非编码区",14200,"1.0000=36/36",null,7579,"1p34.3","NM_145238",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38063",133,49,0.37,{"$nulls":3},"A有","32630A","ZSCAN21","chr7:99662512-99662515","c.*272(exon4)_c.*275(exon4)delTAGT","非编码区","rs71689664",null,0.38,0.35,0.41,0.067,0.39,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZSCAN21",1,120,"非编码区",2430,"0.3618=55/152",null,7589,"7q22.1","NM_145914",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38064",8,4,0.5,{"$nulls":3},"A有","32630A","ZSCAN23","chr6:28401790","c.*452T>C(exon4)","非编码区","rs16894108",0.38,0.25,0.2,0.3,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN23",1,110,"非编码区",14200,"0.4444=4/9",null,222696,"6p22.1","NM_001012455",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38065",96,44,0.46,{"$nulls":3},"A有","32630A","ZSCAN23","chr6:28402260","c.1152A>G(exon4)","p.P384P","rs17315648",0.11,0.12,0.1,0.14,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN23",1,110,"同义",13203,"0.4952=52/105",null,222696,"6p22.1","NM_001012455",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38066",90,34,0.38,{"$nulls":3},"A有","32630A","ZSCAN23","chr6:28403225","c.556+12G>A(exon3)","非编码区","rs2071965",0.38,0.25,0.2,0.3,0.29,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN23",1,110,"非编码区",16203,"0.4257=43/101",null,222696,"6p22.1","NM_001012455",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38067",69,37,0.54,{"$nulls":3},"A有","32630A","ZSCAN23","chr6:28403629","c.408+7A>G(exon2)","非编码区","rs57126418",0.11,0.12,0.1,0.14,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN23",1,110,"非编码区",16203,"0.5190=41/79",null,222696,"6p22.1","NM_001012455",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38068",83,52,0.63,{"$nulls":3},"A有","32630A","ZSCAN29","chr15:43661802","c.310A>G(exon1)","p.R104G","rs3809482",0.55,0.5,0.48,0.53,0.48,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSCAN29",1,85,"非同义",12220,"0.6277=59/94",null,146050,"15q15.3","NM_152455",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38071",127,61,0.48,{"$nulls":3},"A有","32630A","ZSCAN5B","chr19:56702323","c.622G>A(exon3)","p.V208I","rs4801296",0.48,0.41,0.45,0.36,0.39,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSCAN5B",1,110,"非同义",12220,"0.4741=64/135",null,342933,"19q13.43","NM_001080456",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38075",5,3,0.6,{"$nulls":3},"A有","32630A","ZSWIM1","chr20:44512793-44512794","c.*104(exon2)_c.*105(exon2)delTG","非编码区","rs11469050",null,0.43,0.42,0.44,0,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZSWIM1",1,55,"非编码区",2430,"0.6000=3/5",null,90204,"20q13.12","NM_080603",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38076",31,12,0.39,{"$nulls":3},"A有","32630A","ZSWIM3","chr20:44505973","c.776T>C(exon2)","p.V259A","rs2903808",0.56,0.55,0.55,0.56,0.51,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSWIM3",1,57,"非同义",12220,"0.3939=13/33",null,140831,"20q13.12","NM_080752",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38077",39,16,0.41,{"$nulls":3},"A有","32630A","ZSWIM3","chr20:44506418","c.1221G>A(exon2)","p.R407R","rs1045493",0.48,0.46,0.46,0.47,0.47,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSWIM3",1,57,"同义",13203,"0.4048=17/42",null,140831,"20q13.12","NM_080752",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38078",124,123,0.99,{"$nulls":3},"A有","32630A","ZSWIM5","chr1:45504720","c.1782C>G(exon8)","p.T594T","rs7551698",0.51,0.51,0.46,0.55,0.48,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSWIM5",1,78,"同义",13203,"0.9935=153/154",null,57643,"1p34.1","NM_020883",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38079",26,12,0.46,{"$nulls":3},"A有","32630A","ZW10","chr11:113604245-113604248","c.*168(exon16)_c.*171(exon16)delGTTT","非编码区","rs141123769",0.078,0.14,0.15,0.14,0,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZW10",1,150,"非编码区",2420,"0.4828=14/29",null,9183,"11q23.2","NM_004724",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38080",141,70,0.5,{"$nulls":3},"A有","32630A","ZW10","chr11:113609079","c.1791A>G(exon13)","p.K597K","rs77970040",1.8E-3,0.017,0.0048,0.029,0.0057,0.0088,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZW10",1,150,"同义",13103,"0.4933=74/150",null,9183,"11q23.2","NM_004724",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38081",136,136,1,{"$nulls":3},"A有","32630A","ZW10","chr11:113618968","c.1089+11C>G(exon8)","非编码区","rs2513584",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZW10",1,150,"非编码区",16203,"1.0000=158/158",null,9183,"11q23.2","NM_004724",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38082",167,167,1,{"$nulls":3},"A有","32630A","ZWILCH","chr15:66806308","c.106-18C>T(exon3)","非编码区","rs4238406",1,0.99,1,0.99,0.99,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZWILCH",1,190,"非编码区",16202,"1.0000=199/199",null,55055,"15q22.31","NM_017975",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38083",75,41,0.55,{"$nulls":3},"A有","32630A","ZWILCH","chr15:66821174","c.970-16G>C(exon11)","非编码区","rs6494580",0.93,0.94,0.96,0.92,0.93,0.93,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZWILCH",1,190,"非编码区",16202,"0.5682=50/88",null,55055,"15q22.31","NM_017975",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38084",56,56,1,{"$nulls":3},"A有","32630A","ZWINT","chr10:58118630","c.559A>G(exon6)","p.R187G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,1,0,"ZWINT",1,85,"非同义",12210,"1.0000=65/65",null,11130,"10q21-q22","NM_032997",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38085",60,60,1,{"$nulls":3},"A有","32630A","ZXDB","chrX:57619648","c.1167G>T(exon1)","p.P389P","rs1057328",null,1,1,1,1,1,"半合子","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZXDB",1,59,"同义",13303,"1.0000=71/71",null,158586,"Xp11.21","NM_007157",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38086",35,35,1,{"$nulls":3},"A有","32630A","ZXDC","chr3:126181071","c.1442-8T>G(exon6)","非编码区","rs6775965",0.22,0.34,0.34,0.33,0.42,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZXDC",0.94,65,"非编码区",16202,"1.0000=39/39",null,79364,"3q21.3","NM_001040653",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38087",5,5,1,{"$nulls":3},"A有","32630A","ZXDC","chr3:126194357","c.352C>G(exon1)","p.P118A","rs7624748",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZXDC",0.94,65,"非同义",12220,"1.0000=5/5",null,79364,"3q21.3","NM_001040653",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38088",17,10,0.59,{"$nulls":3},"A有","32630A","ZYG11A","chr1:53308455","c.-101C>G(exon1)","非编码区","rs117974148",0.039,0.2,0.19,0.21,0.22,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZYG11A",1,120,"非编码区",14100,"0.5789=11/19",null,440590,"1p32.3","NM_001004339",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38089",126,65,0.52,{"$nulls":3},"A有","32630A","ZYG11A","chr1:53320274","c.228G>T(exon2)","p.E76D","rs480299",0.59,0.25,0.23,0.28,0.3,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZYG11A",1,120,"非同义",12220,"0.5217=72/138",null,440590,"1p32.3","NM_001004339",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38090",160,85,0.53,{"$nulls":3},"A有","32630A","ZYG11A","chr1:53333392","c.1492-7C>T(exon8)","非编码区","rs79762797",0.052,0.2,0.19,0.21,0.22,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZYG11A",1,120,"非编码区",16202,"0.5215=97/186",null,440590,"1p32.3","NM_001004339",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38091",2,2,1,{"$nulls":3},"A有","32630A","ZYG11B","chr1:53192144-53192145","c.-182(exon1)_c.-181(exon1)insGGCTGC","非编码区",{"$nulls":7},"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ZYG11B",1,140,"非编码区",2440,"1.0000=2/2",null,79699,"1p32.3","NM_024646",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38092",4,4,1,{"$nulls":3},"A有","32630A","ZYG11B","chr1:53192187","c.-139C>T(exon1)","非编码区","rs269298",0.85,0.62,0.59,0.66,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZYG11B",1,140,"非编码区",14200,"1.0000=4/4",null,79699,"1p32.3","NM_024646",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38093",80,80,1,{"$nulls":3},"A有","32630A","ZYG11B","chr1:53250650","c.1194G>A(exon5)","p.G398G","rs6588443",0.71,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZYG11B",1,140,"同义",13203,"1.0000=87/87",null,79699,"1p32.3","NM_024646",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38094",76,31,0.41,{"$nulls":3},"A有","32630A","ZYX","chr7:143087744","c.1688G>A(exon10)","p.R563Q","rs149835123",0.0004,0.0024,0,0.0049,0.0022,0.0095,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"ZYX",1,58,"非同义",12120,"0.4337=36/83",null,7791,"7q32","NM_003461",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38095",57,57,1,{"$nulls":3},"A有","32630A","ZZEF1","chr17:3989968","c.2343-19G>A(exon15)","非编码区","rs2727060",0.53,0.78,0.81,0.74,0.74,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZZEF1",1,110,"非编码区",16202,"1.0000=68/68",null,23140,"17p13.2","NM_015113",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630A(747)v38096",10,10,1,{"$nulls":3},"A有","32630A","ZZEF1","chr17:4046101","c.89T>C(exon1)","p.V30A","rs1454121",0.8,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZZEF1",1,110,"非同义",12220,"1.0000=11/11",null,23140,"17p13.2","NM_015113",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32630xbycn1A(0)v0",580,296,0.51,0,0,0,"A有","32630xbycn1A","SMN1","chr5:70247773","c.744C>T(E7)",{"$nulls":9},"未知","C:T=284:296,正常",null,"脊髓肌萎缩1型","AR",253300,3,null,1,4,"SMN1",{"$nulls":4},"0.53=369/699","0=0/0",6606,"5q13.2","NM_022874.2",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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