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{"sheet":"32629xbycn1A","index":0,"n_rows":42970,"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"]
["32629A(745)v1",268,66,0.2463,"32629A","61E3.4","chr16:21858799","c.184C>T(exon4)","p.H62Y","rs200206734",0.015,0.062,0.067,0.058,null,0.11,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"61E3.4",null,null,"非同义",12130,"0.2345=72/307","位于基因组多拷贝区域+DNA结构正常",440345,"16p12.2","XM_003403461"]
["32629A(745)v2",44,44,1,"32629A","A1BG","chr19:58858232-58858232","c.*156(exon8)delG","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"A1BG",1,42,"非编码区",2420,"1.0000=51/51","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786"]
["32629A(745)v3",53,53,1,"32629A","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,{"$nulls":3},5,null,2,0,"A1BG",1,42,"非同义",12220,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",1,"19q13.4","NM_130786"]
["32629A(745)v4",59,26,0.4407,"32629A","A2ML1","chr12:8995966","c.1476+9G>A(exon12)","非编码区","rs7136813",null,0.1,0.081,0.12,0.12,0.12,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,8,0,"A2ML1",1,120,"非编码区",16303,"0.4559=31/68","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32629A(745)v5",74,73,0.9865,"32629A","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",{"$nulls":4},4,null,8,0,"A2ML1",1,120,"同义",13303,"0.9888=88/89","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32629A(745)v6",77,76,0.987,"32629A","A2ML1","chr12:9004892","c.2550C>A(exon20)","p.D850E","rs1860926",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"A2ML1",1,120,"非同义",12330,"0.9885=86/87","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32629A(745)v7",42,17,0.4048,"32629A","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",{"$nulls":4},4,null,8,0,"A2ML1",1,120,"同义",13303,"0.4167=20/48","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32629A(745)v8",188,110,0.5851,"32629A","A2ML1","chr12:9013755","c.3364C>T(exon28)","p.R1122W","rs1860967",null,0.83,0.83,0.83,0.79,0.78,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"A2ML1",1,120,"非同义",12320,"0.5721=119/208","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32629A(745)v9",41,41,1,"32629A","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",{"$nulls":4},3,null,8,0,"A2ML1",1,120,"非同义",12330,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32629A(745)v10",77,77,1,"32629A","A2ML1","chr12:9020489","c.3769A>G(exon30)","p.M1257V","rs7308811",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"A2ML1",1,120,"非同义",12320,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32629A(745)v11",77,77,1,"32629A","A2ML1","chr12:9020912","c.4020A>G(exon31)","p.Q1340Q","rs1476910",null,0.48,0.48,0.48,0.47,0.5,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"A2ML1",1,120,"同义",13303,"1.0000=88/88","位于基因组单拷贝区域+DNA结构正常",144568,"12p13.31","NM_144670"]
["32629A(745)v12",127,60,0.4724,"32629A","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",104300,3,1,4,2,"A2M",1,170,"非同义",12320,"0.4762=70/147","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"]
["32629A(745)v12",127,60,0.4724,"32629A","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",614036,3,1,4,2,"A2M",1,170,"非同义",12320,"0.4762=70/147","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"]
["32629A(745)v13",102,102,1,"32629A","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",104300,3,1,4,2,"A2M",1,170,"非同义",12330,"1.0000=110/110","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32629A(745)v13",102,102,1,"32629A","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",614036,3,1,4,2,"A2M",1,170,"非同义",12330,"1.0000=110/110","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32629A(745)v14",174,75,0.431,"32629A","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",104300,4,1,4,2,"A2M",1,170,"非编码区",16303,"0.4444=88/198","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32629A(745)v14",174,75,0.431,"32629A","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",614036,4,1,4,2,"A2M",1,170,"非编码区",16303,"0.4444=88/198","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32629A(745)v15",115,48,0.4174,"32629A","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",104300,3,1,4,2,"A2M",1,170,"非编码区",14300,"0.4141=53/128","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32629A(745)v15",115,48,0.4174,"32629A","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",614036,3,1,4,2,"A2M",1,170,"非编码区",14300,"0.4141=53/128","位于基因组单拷贝区域+DNA结构正常",2,"12p13.31","NM_000014"]
["32629A(745)v16",37,19,0.5135,"32629A","A4GALT","chr22:43089055","c.903C>G(exon3)","p.P301P","rs6002904",0.7,0.68,0.69,0.67,0.7,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血型, P 系统",null,111400,5,2,1,1,"A4GALT",1,42,"同义",13203,"0.5116=22/43","位于基因组单拷贝区域+DNA结构正常",53947,"22q13.2","NM_017436"]
["32629A(745)v17",11,9,0.8182,"32629A","A4GNT","chr3:137843018","c.*88C>G(exon3)","非编码区","rs1564496",null,0.69,0.68,0.71,0.7,null,"杂合","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,"0.8333=10/12","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161"]
["32629A(745)v18",44,23,0.5227,"32629A","A4GNT","chr3:137843106","c.1023A>G(exon3)","p.X341X","rs2170309",0.65,0.69,0.68,0.71,0.69,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"0.5882=30/51","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161"]
["32629A(745)v19",92,51,0.5543,"32629A","A4GNT","chr3:137843476","c.653C>A(exon3)","p.A218D","rs2246945",0.65,0.69,0.68,0.71,0.69,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"非同义",12220,"0.5577=58/104","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161"]
["32629A(745)v20",89,33,0.3708,"32629A","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",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"0.3542=34/96","位于基因组单拷贝区域+DNA结构正常",51146,"3p14.3","NM_016161"]
["32629A(745)v21",63,63,1,"32629A","AAAS","chr12:53703021","c.855C>T(exon9)","p.F285F","rs1546808",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,97,"同义",13203,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",8086,"12q13","NM_015665",null,"rs1546808|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v22",68,68,1,"32629A","AAAS","chr12:53714496","c.124-20T>C(exon2)","非编码区","rs4759231",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,97,"非编码区",16202,"1.0000=73/73","位于基因组单拷贝区域+DNA结构正常",8086,"12q13","NM_015665"]
["32629A(745)v23",13,7,0.5385,"32629A","AACS","chr12:125549956","c.-175C>T(exon1)","非编码区","rs41474647",0.15,0.21,0.17,0.26,0.27,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"AACS",1,98,"非编码区",14200,"0.5714=8/14","位于基因组单拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928"]
["32629A(745)v24",65,65,1,"32629A","AACS","chr12:125612839","c.1423+19G>A(exon13)","非编码区","rs900411",0.34,0.56,0.61,0.51,0.56,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"AACS",1,98,"非编码区",16203,"1.0000=75/75","位于基因组多拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928"]
["32629A(745)v25",39,39,1,"32629A","AACS","chr12:125621419","c.1881+9A>G(exon17)","非编码区","rs41473449",0.37,0.55,0.57,0.53,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"AACS",1,98,"非编码区",16203,"1.0000=43/43","位于基因组多拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928"]
["32629A(745)v26",4,4,1,"32629A","AACS","chr12:125627053","c.*278C>T(exon18)","非编码区","rs11058046",0.22,0.43,0.43,0.43,0.62,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"AACS",1,98,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",65985,"12q24.31","NM_023928"]
["32629A(745)v27",125,125,1,"32629A","AADACL2","chr3:151463421","c.556G>T(exon4)","p.A186S","rs1972977",0.71,0.62,0.68,0.57,0.62,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AADACL2",1,180,"非同义",12220,"1.0000=142/142","位于基因组单拷贝区域+DNA结构正常",344752,"3q25.1","NM_207365"]
["32629A(745)v28",16,10,0.625,"32629A","AADACL3","chr1:12776134","c.-217C>A(exon1)","非编码区","rs3010874",0.71,0.66,0.69,0.63,0.65,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.6471=11/17","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v29",36,24,0.6667,"32629A","AADACL3","chr1:12776218","c.-133A>C(exon1)","非编码区","rs3000860",0.86,0.75,0.77,0.72,0.72,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.6585=27/41","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v30",71,32,0.4507,"32629A","AADACL3","chr1:12776344","c.-7A>T(exon1)","非编码区","rs3000859",0.66,0.66,0.69,0.63,0.65,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.4430=35/79","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v31",88,45,0.5114,"32629A","AADACL3","chr1:12779560","c.81T>C(exon2)","p.D27D","rs3010876",0.85,0.79,0.8,0.79,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"同义",13203,"0.5146=53/103","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v32",93,48,0.5161,"32629A","AADACL3","chr1:12779563","c.84C>T(exon2)","p.P28P","rs78912772",0.028,0.055,0.062,0.049,0.044,0.044,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,11,0,"AADACL3",1,120,"同义",13103,"0.5000=54/108","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v33",112,56,0.5,"32629A","AADACL3","chr1:12779618","c.139T>C(exon2)","p.S47P","rs3010877",0.85,0.8,0.8,0.79,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非同义",12220,"0.4961=63/127","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v34",104,55,0.5288,"32629A","AADACL3","chr1:12785295","c.385C>T(exon4)","p.R129W","rs17038445",0.014,0.046,0.052,0.039,0.043,0.048,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,11,0,"AADACL3",1,120,"非同义",12110,"0.5088=58/114","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v35",161,76,0.472,"32629A","AADACL3","chr1:12785494","c.584G>T(exon4)","p.C195F","rs7513079",0.68,0.79,0.8,0.78,0.79,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非同义",12210,"0.4566=79/173","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v36",9,6,0.6667,"32629A","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",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.6667=6/9","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v37",4,3,0.75,"32629A","AADACL3","chr1:12788406","c.*2443G>A(exon4)","非编码区","rs3000929",0.83,0.79,0.8,0.79,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.7500=3/4","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v38",4,3,0.75,"32629A","AADACL3","chr1:12788411","c.*2448C>T(exon4)","非编码区","rs59335617",0.03,0.053,0.057,0.049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"AADACL3",1,120,"非编码区",14100,"0.7500=3/4","位于基因组单拷贝区域+DNA结构正常",126767,"1p36.21","NM_001103170"]
["32629A(745)v39",156,156,1,"32629A","AADAT","chr4:170987636","c.963-7T>C(exon10)","非编码区","rs1480544",0.74,1,1,1,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AADAT",1,200,"非编码区",16202,"1.0000=180/180","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228"]
["32629A(745)v40",161,49,0.3043,"32629A","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,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"AADAT",1,200,"非编码区",2500,"0.3202=57/178","位于基因组单拷贝区域+DNA结构正常",51166,"4q33","NM_016228"]
["32629A(745)v41",4,4,1,"32629A","AAGAB","chr15:67494823","c.*336C>G(exon10)","非编码区","rs10518716",0.26,0.47,0.4,0.53,0.67,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,160,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666"]
["32629A(745)v42",4,4,1,"32629A","AAGAB","chr15:67494922","c.*237A>G(exon10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,0.45,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,160,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666"]
["32629A(745)v43",143,143,1,"32629A","AAGAB","chr15:67528374","c.394A>C(exon4)","p.I132L","rs7173826",0.36,0.63,0.63,0.64,0.64,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IA型点状掌跖角皮病","AD",148600,5,1,3,1,"AAGAB",1,160,"非同义",12220,"1.0000=158/158","位于基因组单拷贝区域+DNA结构正常",79719,"15q22.33-q23","NM_024666"]
["32629A(745)v44",133,60,0.4511,"32629A","AAK1","chr2:69692782","c.*10219C>T(exon22)","非编码区","rs148323049",0.0002,0,0,0,0.0011,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"AAK1",1,130,"非编码区",14100,"0.4750=76/160","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32629A(745)v45",47,24,0.5106,"32629A","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",{"$nulls":4},5,null,6,0,"AAK1",1,130,"同义",13203,"0.5000=24/48","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32629A(745)v46",63,63,1,"32629A","AAK1","chr2:69741754-69741756","c.1623(exon13)_c.1625(exon13)delACA","p.Q541_Q542delinsQ","rs3832159",0.36,0.52,0.54,0.51,0.042,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AAK1",1,130,"非移码",2222,"1.0000=67/67","位于基因组单拷贝区域+简单重复结构",22848,"2p14","NM_014911"]
["32629A(745)v47",69,69,1,"32629A","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",{"$nulls":4},5,null,6,0,"AAK1",1,130,"非同义",12230,"1.0000=73/73","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32629A(745)v48",73,31,0.4247,"32629A","AAK1","chr2:69746142","c.1441G>C(exon12)","p.A481P","rs76509206",0.042,0.0024,0.0048,0,0.018,0.0062,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,6,0,"AAK1",1,130,"非同义",12120,"0.4198=34/81","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32629A(745)v49",2,2,1,"32629A","AAK1","chr2:69870301","c.-129G>T(exon2)","非编码区","rs1396793",0.23,0.4,0.37,0.43,0.39,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AAK1",1,130,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",22848,"2p14","NM_014911"]
["32629A(745)v50",11,11,1,"32629A","AAMP","chr2:219129060","c.*196T>C(exon11)","非编码区","rs2382816",0.96,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AAMP",1,61,"非编码区",14200,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",14,"2q35","NM_001087"]
["32629A(745)v51",8,8,1,"32629A","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",614096,5,1,6,2,"AARS2",1,65,"非编码区",14200,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32629A(745)v51",8,8,1,"32629A","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",615889,5,1,6,2,"AARS2",1,65,"非编码区",14200,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32629A(745)v52",41,41,1,"32629A","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",614096,4,1,6,2,"AARS2",1,65,"同义",13303,"1.0000=42/42","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"]
["32629A(745)v52",41,41,1,"32629A","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",615889,4,1,6,2,"AARS2",1,65,"同义",13303,"1.0000=42/42","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"]
["32629A(745)v53",73,73,1,"32629A","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",614096,5,1,6,2,"AARS2",1,65,"非编码区",16202,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32629A(745)v53",73,73,1,"32629A","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",615889,5,1,6,2,"AARS2",1,65,"非编码区",16202,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32629A(745)v54",38,16,0.4211,"32629A","AARS2","chr6:44269193","c.2607G>A(exon20)","p.K869K","rs498512",0.58,0.44,0.46,0.43,0.43,0.42,"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",614096,5,3,6,2,"AARS2",1,65,"同义",13203,"0.4130=19/46","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32629A(745)v54",38,16,0.4211,"32629A","AARS2","chr6:44269193","c.2607G>A(exon20)","p.K869K","rs498512",0.58,0.44,0.46,0.43,0.43,0.42,"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",615889,5,3,6,2,"AARS2",1,65,"同义",13203,"0.4130=19/46","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32629A(745)v55",52,52,1,"32629A","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",614096,5,1,6,2,"AARS2",1,65,"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"]
["32629A(745)v55",52,52,1,"32629A","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",615889,5,1,6,2,"AARS2",1,65,"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"]
["32629A(745)v56",38,17,0.4474,"32629A","AARS2","chr6:44280812","c.243+6G>A(exon1)","非编码区","rs167772",0.45,0.43,0.44,0.42,0.4,0.39,"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",614096,5,3,6,2,"AARS2",1,65,"非编码区",16202,"0.4615=18/39","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32629A(745)v56",38,17,0.4474,"32629A","AARS2","chr6:44280812","c.243+6G>A(exon1)","非编码区","rs167772",0.45,0.43,0.44,0.42,0.4,0.39,"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",615889,5,3,6,2,"AARS2",1,65,"非编码区",16202,"0.4615=18/39","位于基因组单拷贝区域+DNA结构正常",57505,"6p21.1","NM_020745"]
["32629A(745)v57",87,87,1,"32629A","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",{"$nulls":4},5,null,1,0,"AARSD1",1,72,"同义",13203,"1.0000=95/95","位于基因组单拷贝区域+DNA结构正常",80755,"17q21.31","NM_001261434"]
["32629A(745)v58",56,56,1,"32629A","AARS","chr16:70287177","c.2715T>C(exon20)","p.V905V","rs4081753",0.88,0.96,0.97,0.95,0.95,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,97,"同义",13203,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605"]
["32629A(745)v59",52,28,0.5385,"32629A","AARS","chr16:70303580","c.903C>T(exon7)","p.H301H","rs2070203",0.43,0.37,0.4,0.33,0.4,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",10393914,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,97,"同义",13203,"0.4915=29/59","位于基因组单拷贝区域+DNA结构正常",16,"16q22","NM_001605","rs2070203|\"Altered_mRNA_folding\"|10393914"]
["32629A(745)v60",19,12,0.6316,"32629A","AASDH","chr4:57204476-57204477","c.*91(exon15)_c.*92(exon15)insAGAA","非编码区","rs35451510",0.28,0.082,0.071,0.092,0.032,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,140,"非编码区",2420,"0.5217=12/23","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32629A(745)v61",95,47,0.4947,"32629A","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",{"$nulls":4},5,null,7,0,"AASDH",1,140,"非同义",12220,"0.5093=55/108","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32629A(745)v62",147,74,0.5034,"32629A","AASDH","chr4:57219592","c.1554C>T(exon9)","p.D518D","rs6554348",0.65,0.54,0.53,0.55,0.48,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,140,"同义",13203,"0.4969=81/163","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32629A(745)v63",87,48,0.5517,"32629A","AASDH","chr4:57221348","c.1103A>G(exon6)","p.K368R","rs3796543",0.065,0.18,0.21,0.16,0.22,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,140,"非同义",12220,"0.5426=51/94","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32629A(745)v64",181,92,0.5083,"32629A","AASDH","chr4:57237683","c.795C>T(exon5)","p.S265S","rs6554354",0.28,0.082,0.071,0.092,0.08,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,140,"同义",13203,"0.5172=105/203","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32629A(745)v65",227,104,0.4581,"32629A","AASDH","chr4:57248716","c.278C>G(exon3)","p.P93R","rs34228795",0.065,0.18,0.21,0.16,0.22,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,140,"非同义",12210,"0.4612=119/258","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32629A(745)v66",151,77,0.5099,"32629A","AASDH","chr4:57250285","c.181A>G(exon2)","p.I61V","rs34543011",0.065,0.18,0.21,0.16,0.22,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,140,"非同义",12220,"0.5060=84/166","位于基因组单拷贝区域+DNA结构正常",132949,"4q12","NM_181806"]
["32629A(745)v67",35,25,0.7143,"32629A","AATF","chr17:35306312","c.-114G>C(exon1)","非编码区","rs2306658",0.27,0.16,0.14,0.17,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23251661,{"$nulls":3},5,null,2,0,"AATF",1,180,"非编码区",14200,"0.7179=28/39","位于基因组单拷贝区域+DNA结构正常",26574,"17q12","NM_012138"]
["32629A(745)v68",66,34,0.5152,"32629A","AATF","chr17:35346641","c.1245T>C(exon7)","p.S415S","rs1045056",0.16,0.017,0.0048,0.029,0.036,0.039,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AATF",1,180,"同义",13203,"0.5342=39/73","位于基因组单拷贝区域+DNA结构正常",26574,"17q12","NM_012138"]
["32629A(745)v69",34,34,1,"32629A","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,1,0,"AATK",1,28,"同义",13203,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",9625,"17q25.3","NM_001080395"]
["32629A(745)v70",74,37,0.5,"32629A","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",613163,5,3,6,1,"ABAT",1,100,"非同义",12220,"0.5185=42/81","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32629A(745)v71",210,101,0.481,"32629A","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",613163,5,3,6,1,"ABAT",1,100,"非编码区",16202,"0.4870=112/230","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32629A(745)v72",59,29,0.4915,"32629A","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,"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",613163,5,3,6,1,"ABAT",1,100,"非编码区",16202,"0.4776=32/67","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32629A(745)v73",74,47,0.6351,"32629A","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",613163,5,3,6,1,"ABAT",1,100,"同义",13203,"0.6322=55/87","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32629A(745)v74",52,52,1,"32629A","ABAT","chr16:8873456","c.1381+9T>C(exon15)","非编码区","rs1079348",0.35,0.33,0.35,0.32,0.33,0.36,"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",613163,5,1,6,1,"ABAT",1,100,"非编码区",16203,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",18,"16p13.2","NM_000663"]
["32629A(745)v75",4,4,1,"32629A","ABAT","chr16:8875545","c.*258G>C(exon16)","非编码区","rs737695",0.32,0.32,0.33,0.32,0.34,null,"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",613163,5,1,6,1,"ABAT",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",18,"16p13.2","NM_000663"]
["32629A(745)v76",5,5,1,"32629A","ABCA10","chr17:67144628","c.*340G>T(exon40)","非编码区","rs1974576",0.71,0.47,0.51,0.44,0.42,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",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",10349,"17q24","NM_080282"]
["32629A(745)v77",10,10,1,"32629A","ABCA10","chr17:67144684","c.*284A>T(exon40)","非编码区","rs1974577",0.71,0.47,0.51,0.44,0.43,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",1,200,"非编码区",14200,"1.0000=10/10","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v78",172,172,1,"32629A","ABCA10","chr17:67144884","c.*84C>A(exon40)","非编码区","rs1974578",0.49,0.32,0.38,0.27,0.31,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",1,200,"非编码区",14200,"1.0000=186/186","位于基因组多拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v79",138,138,1,"32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",1,200,"非编码区",16203,"1.0000=154/154","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v80",171,171,1,"32629A","ABCA10","chr17:67178316","c.2747T>C(exon23)","p.M916T","rs4968849",0.71,0.47,0.51,0.44,0.45,0.45,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",1,200,"非同义",12220,"1.0000=193/193","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v81",54,54,1,"32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",1,200,"非编码区",16202,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v82",126,55,0.4365,"32629A","ABCA10","chr17:67210992","c.859A>G(exon10)","p.I287V","rs11657804",0.26,0.25,0.29,0.21,0.24,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",1,200,"非同义",12220,"0.4122=61/148","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v83",143,66,0.4615,"32629A","ABCA10","chr17:67212031","c.783T>C(exon9)","p.Y261Y","rs11077414",null,0.31,0.36,0.27,0.29,0.3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"ABCA10",1,200,"同义",13303,"0.4675=72/154","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v84",209,112,0.5359,"32629A","ABCA10","chr17:67212423","c.607C>T(exon8)","p.P203S","rs9909216",0.58,0.31,0.36,0.27,0.29,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",1,200,"非同义",12220,"0.5366=132/246","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v85",105,56,0.5333,"32629A","ABCA10","chr17:67215712","c.504G>A(exon7)","p.V168V","rs12941264",0.6,0.31,0.36,0.26,0.29,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA10",1,200,"同义",13203,"0.5575=63/113","位于基因组单拷贝区域+DNA结构正常",10349,"17q24","NM_080282"]
["32629A(745)v86",69,33,0.4783,"32629A","ABCA12","chr2:215797332","c.*26G>A(exon53)","非编码区","rs17426207",0.4,0.34,0.31,0.36,0.33,0.36,"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",242500,5,3,5,2,"ABCA12",1,190,"非编码区",14200,"0.4557=36/79","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v86",69,33,0.4783,"32629A","ABCA12","chr2:215797332","c.*26G>A(exon53)","非编码区","rs17426207",0.4,0.34,0.31,0.36,0.33,0.36,"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",601277,5,3,5,2,"ABCA12",1,190,"非编码区",14200,"0.4557=36/79","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v87",93,93,1,"32629A","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",242500,5,1,5,2,"ABCA12",1,190,"非编码区",16203,"1.0000=104/104","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v87",93,93,1,"32629A","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",601277,5,1,5,2,"ABCA12",1,190,"非编码区",16203,"1.0000=104/104","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v88",134,131,0.9776,"32629A","ABCA12","chr2:215865575","c.3033A>G(exon22)","p.P1011P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"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",242500,5,1,5,2,"ABCA12",1,190,"同义",13203,"0.9789=139/142","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v88",134,131,0.9776,"32629A","ABCA12","chr2:215865575","c.3033A>G(exon22)","p.P1011P","rs10498030",0.2,0.38,0.41,0.35,0.36,0.37,"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",601277,5,1,5,2,"ABCA12",1,190,"同义",13203,"0.9789=139/142","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v89",94,94,1,"32629A","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",242500,5,1,5,2,"ABCA12",1,190,"非同义",12220,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v89",94,94,1,"32629A","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",601277,5,1,5,2,"ABCA12",1,190,"非同义",12220,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v90",276,274,0.9928,"32629A","ABCA12","chr2:215901774","c.888G>A(exon8)","p.V296V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"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",242500,5,1,5,2,"ABCA12",1,190,"同义",13203,"0.9938=318/320","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v90",276,274,0.9928,"32629A","ABCA12","chr2:215901774","c.888G>A(exon8)","p.V296V","rs17501837",0.22,0.4,0.4,0.4,0.38,0.4,"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",601277,5,1,5,2,"ABCA12",1,190,"同义",13203,"0.9938=318/320","位于基因组单拷贝区域+DNA结构正常",26154,"2q34","NM_173076"]
["32629A(745)v91",69,38,0.5507,"32629A","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,18,0,"ABCA13",1,130,"非编码区",16202,"0.5733=43/75","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v92",152,73,0.4803,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"0.4889=88/180","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v93",109,55,0.5046,"32629A","ABCA13","chr7:48287840","c.1664G>A(exon14)","p.R555H","rs2361519",0.2,0.19,0.14,0.25,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"0.5043=59/117","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v94",148,76,0.5135,"32629A","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",{"$nulls":4},2,null,18,0,"ABCA13",1,130,"非同义",12110,"0.5060=84/166","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v95",118,66,0.5593,"32629A","ABCA13","chr7:48311563","c.2300T>G(exon17)","p.I767S","rs17712293",0.19,0.25,0.19,0.31,0.24,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12210,"0.5379=71/132","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v96",131,65,0.4962,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"同义",13203,"0.5177=73/141","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v97",45,22,0.4889,"32629A","ABCA13","chr7:48313949","c.4686C>T(exon17)","p.Y1562Y","rs6583483",0.13,0.2,0.14,0.25,0.2,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"同义",13203,"0.5000=26/52","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v98",138,86,0.6232,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"同义",13203,"0.6169=95/154","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v99",93,93,1,"32629A","ABCA13","chr7:48315796","c.6533C>A(exon17)","p.A2178E","rs1880736",0.81,0.99,1,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"1.0000=110/110","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v100",66,66,1,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v101",198,198,1,"32629A","ABCA13","chr7:48336844","c.9135C>T(exon22)","p.L3045L","rs6583546",0.77,0.99,1,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"同义",13203,"1.0000=226/226","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v102",66,29,0.4394,"32629A","ABCA13","chr7:48450157","c.12111T>C(exon40)","p.A4037A","rs17548783",0.46,0.64,0.59,0.69,0.64,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"同义",13203,"0.4444=32/72","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v103",102,52,0.5098,"32629A","ABCA13","chr7:48506566","c.12829A>G(exon44)","p.N4277D","rs4917152",0.23,0.22,0.18,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"0.5043=59/117","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v104",112,51,0.4554,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"0.4344=53/122","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v105",177,97,0.548,"32629A","ABCA13","chr7:48522769-48522770","c.13182+9(exon47)_c.13182+10(exon47)insT","非编码区","rs566056540",null,0.15,0.15,0.16,0.15,0.2,"杂合","未知","内含子突变",{"$nulls":4},4,null,18,0,"ABCA13",1,130,"非编码区",2500,"0.5312=102/192","位于基因组单拷贝区域+简单重复结构",154664,"7p12.3","NM_152701"]
["32629A(745)v106",121,121,1,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"1.0000=127/127","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v107",118,60,0.5085,"32629A","ABCA13","chr7:48634295","c.14641-11C>A(exon58)","非编码区","rs55974693",0.14,0.16,0.14,0.18,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非编码区",16202,"0.5263=70/133","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v108",165,74,0.4485,"32629A","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,18,0,"ABCA13",1,130,"非编码区",16203,"0.4560=83/182","位于基因组单拷贝区域+DNA结构正常",154664,"7p12.3","NM_152701"]
["32629A(745)v109",111,111,1,"32629A","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",143890,5,1,5,3,"ABCA1",1,130,"非同义",12220,"1.0000=122/122","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"]
["32629A(745)v109",111,111,1,"32629A","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",205400,5,1,5,3,"ABCA1",1,130,"非同义",12220,"1.0000=122/122","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"]
["32629A(745)v109",111,111,1,"32629A","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,604091,5,1,5,3,"ABCA1",1,130,"非同义",12220,"1.0000=122/122","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"]
["32629A(745)v110",63,63,1,"32629A","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",143890,5,1,5,3,"ABCA1",1,130,"同义",13203,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32629A(745)v110",63,63,1,"32629A","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",205400,5,1,5,3,"ABCA1",1,130,"同义",13203,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32629A(745)v110",63,63,1,"32629A","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,604091,5,1,5,3,"ABCA1",1,130,"同义",13203,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32629A(745)v111",134,58,0.4328,"32629A","ABCA1","chr9:107586753","c.2649A>G(exon18)","p.I883M","rs2066714",0.36,0.74,0.74,0.74,0.73,0.72,"杂合","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",143890,5,1,5,3,"ABCA1",1,130,"非同义",12220,"0.4079=62/152","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ILE883MET|\"Tangier_disease\"|10431237"]
["32629A(745)v111",134,58,0.4328,"32629A","ABCA1","chr9:107586753","c.2649A>G(exon18)","p.I883M","rs2066714",0.36,0.74,0.74,0.74,0.73,0.72,"杂合","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",205400,5,3,5,3,"ABCA1",1,130,"非同义",12220,"0.4079=62/152","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ILE883MET|\"Tangier_disease\"|10431237"]
["32629A(745)v111",134,58,0.4328,"32629A","ABCA1","chr9:107586753","c.2649A>G(exon18)","p.I883M","rs2066714",0.36,0.74,0.74,0.74,0.73,0.72,"杂合","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,604091,5,2,5,3,"ABCA1",1,130,"非同义",12220,"0.4079=62/152","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502","ILE883MET|\"Tangier_disease\"|10431237"]
["32629A(745)v112",122,57,0.4672,"32629A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"杂合","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",143890,5,1,5,3,"ABCA1",1,130,"同义",13203,"0.4615=60/130","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32629A(745)v112",122,57,0.4672,"32629A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"丹吉尔病","AR",205400,5,3,5,3,"ABCA1",1,130,"同义",13203,"0.4615=60/130","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32629A(745)v112",122,57,0.4672,"32629A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"杂合","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,604091,5,2,5,3,"ABCA1",1,130,"同义",13203,"0.4615=60/130","位于基因组单拷贝区域+DNA结构正常",19,"9q31.1","NM_005502"]
["32629A(745)v113",102,41,0.402,"32629A","ABCA1","chr9:107620867","c.656G>A(exon7)","p.R219K","rs2230806",0.44,0.44,0.42,0.47,0.46,0.45,"杂合","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",143890,5,1,5,3,"ABCA1",1,130,"非同义",11200,"0.3981=43/108","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"]
["32629A(745)v113",102,41,0.402,"32629A","ABCA1","chr9:107620867","c.656G>A(exon7)","p.R219K","rs2230806",0.44,0.44,0.42,0.47,0.46,0.45,"杂合","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",205400,5,3,5,3,"ABCA1",1,130,"非同义",11200,"0.3981=43/108","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"]
["32629A(745)v113",102,41,0.402,"32629A","ABCA1","chr9:107620867","c.656G>A(exon7)","p.R219K","rs2230806",0.44,0.44,0.42,0.47,0.46,0.45,"杂合","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,604091,5,2,5,3,"ABCA1",1,130,"非同义",11200,"0.3981=43/108","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"]
["32629A(745)v114",11,11,1,"32629A","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,10,0,"ABCA2",1,39,"非编码区",14200,"1.0000=11/11","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v115",75,75,1,"32629A","ABCA2","chr9:139904037","c.6690T>C(exon44)","p.L2230L","rs7048567",0.72,0.83,0.83,0.84,0.82,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"同义",13203,"1.0000=86/86","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v116",35,35,1,"32629A","ABCA2","chr9:139906359","c.5472C>T(exon35)","p.H1824H","rs2271862",0.69,0.83,0.82,0.84,0.82,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"同义",13203,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v117",30,14,0.4667,"32629A","ABCA2","chr9:139907219","c.5026G>A(exon31)","p.G1676S","rs184422644",2.8E-3,0.012,0.014,0.0097,0.01,0.0095,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,10,0,"ABCA2",1,39,"非同义",12110,"0.4545=15/33","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v118",35,35,1,"32629A","ABCA2","chr9:139908265","c.4447+19A>G(exon28)","非编码区","rs10781531",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"非编码区",16203,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v119",32,20,0.625,"32629A","ABCA2","chr9:139908442","c.4289T>C(exon28)","p.L1430P",{"$nulls":5},0.00059,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,10,0,"ABCA2",1,39,"非同义",12410,"0.6286=22/35","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v120",68,68,1,"32629A","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",{"$nulls":3},5,null,10,0,"ABCA2",1,39,"同义",13203,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v121",36,36,1,"32629A","ABCA2","chr9:139913239","c.1751A>C(exon13)","p.H584P","rs908828",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"非同义",12230,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v122",20,20,1,"32629A","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",{"$nulls":4},4,null,10,0,"ABCA2",1,39,"非编码区",2500,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_001606"]
["32629A(745)v123",38,38,1,"32629A","ABCA2","chr9:139923265","c.60T>C(exon1)","p.A20A","rs4880189",0.77,0.79,0.75,0.82,0.77,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",20,"9q34","NM_212533"]
["32629A(745)v124",91,91,1,"32629A","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",1,71,"同义",13203,"1.0000=104/104","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"]
["32629A(745)v125",55,30,0.5455,"32629A","ABCA3","chr16:2367336","c.1059C>T(exon10)","p.F353F","rs13332514",0.19,0.38,0.39,0.37,0.36,0.38,"杂合","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",610921,5,3,3,1,"ABCA3",1,71,"同义",13203,"0.5439=31/57","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"]
["32629A(745)v126",53,32,0.6038,"32629A","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,"杂合","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",610921,5,3,3,1,"ABCA3",1,71,"非编码区",16202,"0.6038=32/53","位于基因组单拷贝区域+DNA结构正常",21,"16p13.3","NM_001089"]
["32629A(745)v127",169,169,1,"32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"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",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184","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"]
["32629A(745)v127",169,169,1,"32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"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",248200,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184","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"]
["32629A(745)v127",169,169,1,"32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"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19型-AR",null,601718,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184","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"]
["32629A(745)v127",169,169,1,"32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"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,604116,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184","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"]
["32629A(745)v127",169,169,1,"32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"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",613341,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184","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"]
["32629A(745)v128",93,52,0.5591,"32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"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",153800,5,1,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147863|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v128",93,52,0.5591,"32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"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",248200,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147863|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v128",93,52,0.5591,"32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"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,601718,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147863|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v128",93,52,0.5591,"32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"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,604116,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147863|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v128",93,52,0.5591,"32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"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",613341,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147863|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v129",76,29,0.3816,"32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"年龄相关性黄斑变性2型","AD",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v129",76,29,0.3816,"32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"斯特格病变1型","AR",248200,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v129",76,29,0.3816,"32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"视网膜色素变性19型-AR",null,601718,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v129",76,29,0.3816,"32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"视锥-视杆细胞营养不良3型",null,604116,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v129",76,29,0.3816,"32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"青少年型视网膜色素变性-AR","AR",613341,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v130",69,27,0.3913,"32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"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",153800,5,1,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1800739|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v130",69,27,0.3913,"32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"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",248200,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1800739|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v130",69,27,0.3913,"32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"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,601718,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1800739|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v130",69,27,0.3913,"32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"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,604116,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1800739|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v130",69,27,0.3913,"32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"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",613341,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs1800739|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v131",64,34,0.5312,"32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"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",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147857|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v131",64,34,0.5312,"32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"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",248200,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147857|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v131",64,34,0.5312,"32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"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,601718,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147857|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v131",64,34,0.5312,"32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"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,604116,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147857|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v131",64,34,0.5312,"32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"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",613341,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350",null,"rs4147857|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v132",134,65,0.4851,"32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","年龄相关性黄斑变性2型","AD",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v132",134,65,0.4851,"32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","斯特格病变1型","AR",248200,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v132",134,65,0.4851,"32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","视网膜色素变性19型-AR",null,601718,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v132",134,65,0.4851,"32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","视锥-视杆细胞营养不良3型",null,604116,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v132",134,65,0.4851,"32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","青少年型视网膜色素变性-AR","AR",613341,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v133",113,113,1,"32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v133",113,113,1,"32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"斯特格病变1型","AR",248200,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v133",113,113,1,"32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"视网膜色素变性19型-AR",null,601718,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v133",113,113,1,"32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"视锥-视杆细胞营养不良3型",null,604116,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v133",113,113,1,"32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v134",76,42,0.5526,"32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"年龄相关性黄斑变性2型","AD",153800,4,1,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v134",76,42,0.5526,"32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"斯特格病变1型","AR",248200,4,3,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v134",76,42,0.5526,"32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"视网膜色素变性19型-AR",null,601718,4,2,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v134",76,42,0.5526,"32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"视锥-视杆细胞营养不良3型",null,604116,4,2,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v134",76,42,0.5526,"32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"青少年型视网膜色素变性-AR","AR",613341,4,3,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86","位于基因组单拷贝区域+DNA结构正常",24,"1p22","NM_000350"]
["32629A(745)v135",55,30,0.5455,"32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32629A(745)v135",55,30,0.5455,"32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"斯特格病变1型","AR",248200,4,3,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32629A(745)v135",55,30,0.5455,"32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"视网膜色素变性19型-AR",null,601718,4,2,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32629A(745)v135",55,30,0.5455,"32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"视锥-视杆细胞营养不良3型",null,604116,4,2,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32629A(745)v135",55,30,0.5455,"32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,4,3,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62","位于基因组单拷贝区域+简单重复结构",24,"1p22","NM_000350"]
["32629A(745)v136",130,51,0.3923,"32629A","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",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141","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"]
["32629A(745)v136",130,51,0.3923,"32629A","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",248200,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141","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"]
["32629A(745)v136",130,51,0.3923,"32629A","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,601718,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141","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"]
["32629A(745)v136",130,51,0.3923,"32629A","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,604116,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141","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"]
["32629A(745)v136",130,51,0.3923,"32629A","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",613341,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141","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"]
["32629A(745)v137",122,48,0.3934,"32629A","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,"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",153800,5,1,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129","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"]
["32629A(745)v137",122,48,0.3934,"32629A","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,"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",248200,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129","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"]
["32629A(745)v137",122,48,0.3934,"32629A","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,"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,601718,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129","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"]
["32629A(745)v137",122,48,0.3934,"32629A","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,"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,604116,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129","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"]
["32629A(745)v137",122,48,0.3934,"32629A","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,"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",613341,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129","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"]
["32629A(745)v138",72,39,0.5417,"32629A","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",153800,5,1,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87","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]"]
["32629A(745)v138",72,39,0.5417,"32629A","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",248200,5,3,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87","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]"]
["32629A(745)v138",72,39,0.5417,"32629A","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,601718,5,2,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87","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]"]
["32629A(745)v138",72,39,0.5417,"32629A","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,604116,5,2,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87","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]"]
["32629A(745)v138",72,39,0.5417,"32629A","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",613341,5,3,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87","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]"]
["32629A(745)v139",135,135,1,"32629A","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",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145","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"]
["32629A(745)v139",135,135,1,"32629A","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",248200,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145","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"]
["32629A(745)v139",135,135,1,"32629A","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,601718,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145","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"]
["32629A(745)v139",135,135,1,"32629A","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,604116,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145","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"]
["32629A(745)v139",135,135,1,"32629A","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",613341,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145","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"]
["32629A(745)v140",240,117,0.4875,"32629A","ABCA5","chr17:67257281","c.3549G>A(exon25)","p.L1183L","rs78349182",0.03,0.0048,0,0.0097,0.0031,0.0041,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ABCA5",1,200,"同义",13103,"0.5018=137/273","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672"]
["32629A(745)v141",256,256,1,"32629A","ABCA5","chr17:67260926","c.3265T>C(exon23)","p.L1089L","rs12449649",0.38,0.39,0.42,0.35,0.36,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCA5",1,200,"同义",13203,"1.0000=298/298","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672"]
["32629A(745)v142",172,172,1,"32629A","ABCA5","chr17:67273882","c.2494G>T(exon18)","p.A832S","rs536009",0.8,0.95,0.95,0.96,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24957074,{"$nulls":3},5,null,4,0,"ABCA5",1,200,"非同义",12220,"1.0000=202/202","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672"]
["32629A(745)v143",240,121,0.5042,"32629A","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",{"$nulls":4},4,null,4,0,"ABCA5",1,200,"同义",13103,"0.4982=136/273","位于基因组单拷贝区域+DNA结构正常",23461,"17q24.3","NM_018672"]
["32629A(745)v144",146,146,1,"32629A","ABCA6","chr17:67075072","c.*42C>T(exon39)","非编码区","rs2302290",0.61,0.27,0.32,0.21,0.24,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非编码区",14200,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32629A(745)v145",114,114,1,"32629A","ABCA6","chr17:67081830","c.3965A>G(exon31)","p.N1322S","rs2302134",0.46,0.32,0.37,0.28,0.3,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非同义",12210,"1.0000=133/133","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32629A(745)v146",94,92,0.9787,"32629A","ABCA6","chr17:67099129","c.2741-20T>C(exon21)","非编码区","rs2364315",0.43,0.27,0.32,0.21,0.24,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非编码区",16202,"0.9804=100/102","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32629A(745)v147",404,403,0.9975,"32629A","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,{"$nulls":3},5,null,6,0,"ABCA6",1,210,"非同义",12220,"0.9958=476/478","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32629A(745)v148",71,71,1,"32629A","ABCA6","chr17:67109894","c.1783-16G>A(exon14)","非编码区","rs9282552",0.46,0.3,0.35,0.25,0.3,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非编码区",16202,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32629A(745)v149",299,299,1,"32629A","ABCA6","chr17:67125840","c.844G>A(exon7)","p.V282I","rs4968839",0.56,0.45,0.5,0.41,0.44,0.45,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非同义",12220,"1.0000=338/338","位于基因组单拷贝区域+DNA结构正常",23460,"17q24.3","NM_080284"]
["32629A(745)v150",39,39,1,"32629A","ABCA7","chr19:1042809","c.563A>G(exon7)","p.E188G","rs3764645",0.4,0.51,0.51,0.51,0.48,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非同义",12210,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v151",31,31,1,"32629A","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,18,0,"ABCA7",1,45,"非编码区",16303,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v152",24,24,1,"32629A","ABCA7","chr19:1047002","c.1824A>G(exon14)","p.A608A","rs3752234",0.58,0.8,0.81,0.78,0.77,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v153",22,22,1,"32629A","ABCA7","chr19:1047161","c.1851A>G(exon15)","p.G617G","rs3752237",0.7,0.84,0.84,0.83,0.82,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"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"]
["32629A(745)v154",61,61,1,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非编码区",16203,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v155",51,51,1,"32629A","ABCA7","chr19:1049305","c.2421C>A(exon18)","p.V807V","rs4147915",0.2,0.46,0.47,0.46,0.41,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v156",41,18,0.439,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"0.4255=20/47","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v157",29,9,0.3103,"32629A","ABCA7","chr19:1052005","c.3027C>T(exon22)","p.A1009A","rs3764652",0.38,0.39,0.39,0.39,0.37,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"0.3030=10/33","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v158",53,26,0.4906,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"0.4909=27/55","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v159",25,11,0.44,"32629A","ABCA7","chr19:1055191","c.4046G>A(exon30)","p.R1349Q","rs3745842",0.39,0.39,0.39,0.39,0.37,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非同义",12220,"0.4400=11/25","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v160",63,30,0.4762,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13202,"0.4627=31/67","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v161",51,51,1,"32629A","ABCA7","chr19:1056492","c.4580G>C(exon33)","p.G1527A","rs3752246",0.83,0.7,0.69,0.72,0.69,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21460841;23669301;24643655;25426068",{"$nulls":3},5,null,18,0,"ABCA7",1,45,"非同义",12220,"1.0000=59/59","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"]
["32629A(745)v162",87,48,0.5517,"32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非编码区",16202,"0.5918=58/98","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v163",19,19,1,"32629A","ABCA7","chr19:1064193","c.5985G>A(exon45)","p.L1995L","rs4147930",0.61,0.53,0.53,0.52,0.49,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"1.0000=21/21","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v164",20,19,0.95,"32629A","ABCA7","chr19:1065018","c.6133G>T(exon46)","p.A2045S","rs4147934",0.61,0.52,0.52,0.52,0.49,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非同义",12220,"0.9500=19/20","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v165",25,12,0.48,"32629A","ABCA7","chr19:1065044","c.6159C>T(exon46)","p.G2053G","rs4147935",{"$nulls":4},0.13,0.25,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,18,0,"ABCA7",1,45,"同义",13303,"0.4800=12/25","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v166",52,25,0.4808,"32629A","ABCA7","chr19:1065445","c.*21C>T(exon47)","非编码区","rs766421026",{"$nulls":5},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,18,0,"ABCA7",1,45,"非编码区",14300,"0.4386=25/57","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v167",15,15,1,"32629A","ABCA7","chr19:1065563","c.*139G>C(exon47)","非编码区","rs2242437",0.6,0.53,0.53,0.53,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非编码区",14200,"1.0000=18/18","位于基因组单拷贝区域+DNA结构正常",10347,"19p13.3","NM_019112"]
["32629A(745)v168",122,122,1,"32629A","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",{"$nulls":4},5,null,1,0,"ABCA8",1,200,"同义",13203,"1.0000=132/132","位于基因组多拷贝区域+DNA结构正常",10351,"17q24","NM_007168"]
["32629A(745)v169",5,2,0.4,"32629A","ABCA9","chr17:66971696-66971699","c.*357(exon39)_c.*360(exon39)delATTT","非编码区","rs150092936",0.61,0.31,0.3,0.32,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",2420,"0.4000=2/5","位于基因组单拷贝区域+简单重复结构",10350,"17q24.2","NM_080283"]
["32629A(745)v170",38,15,0.3947,"32629A","ABCA9","chr17:66971879","c.*177A>G(exon39)","非编码区","rs11077859",0.41,0.31,0.3,0.32,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",14200,"0.4048=17/42","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32629A(745)v171",47,21,0.4468,"32629A","ABCA9","chr17:66971898","c.*158G>A(exon39)","非编码区","rs11077860",0.41,0.31,0.3,0.32,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",14200,"0.4510=23/51","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32629A(745)v172",123,63,0.5122,"32629A","ABCA9","chr17:66985992","c.3917A>C(exon30)","p.K1306T","rs2302294",0.41,0.31,0.3,0.32,0.32,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非同义",12210,"0.5255=72/137","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32629A(745)v173",115,58,0.5043,"32629A","ABCA9","chr17:67024799","c.1505-13A>T(exon12)","非编码区","rs8066758",0.61,0.31,0.3,0.32,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",16202,"0.4769=62/130","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32629A(745)v174",91,52,0.5714,"32629A","ABCA9","chr17:67028260","c.1434A>G(exon10)","p.K478K","rs2302291",0.41,0.24,0.22,0.26,0.24,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"同义",13203,"0.5490=56/102","位于基因组多拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32629A(745)v175",189,189,1,"32629A","ABCA9","chr17:67031369","c.1128+18A>G(exon8)","非编码区","rs1860448",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",16203,"1.0000=211/211","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32629A(745)v176",228,228,1,"32629A","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",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非同义",12220,"1.0000=264/264","位于基因组单拷贝区域+DNA结构正常",10350,"17q24.2","NM_080283"]
["32629A(745)v177",131,65,0.4962,"32629A","ABCB10","chr1:229661711","c.1878G>T(exon10)","p.V626V",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ABCB10",0.86,100,"同义",13403,"0.4968=77/155","位于基因组单拷贝区域+DNA结构正常",23456,"1q42.13","NM_012089"]
["32629A(745)v178",93,93,1,"32629A","ABCB10","chr1:229663065-229663069","c.1646-14(exon9)_c.1646-10(exon9)delTTCCT","非编码区","rs397774139",1,1,1,1,0.11,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ABCB10",0.86,100,"非编码区",2500,"1.0000=110/110","位于基因组单拷贝区域+DNA结构正常",23456,"1q42.13","NM_012089"]
["32629A(745)v179",8,8,1,"32629A","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",601847,3,1,8,2,"ABCB11",1,140,"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"]
["32629A(745)v179",8,8,1,"32629A","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",605479,3,1,8,2,"ABCB11",1,140,"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"]
["32629A(745)v180",76,41,0.5395,"32629A","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",601847,5,3,8,2,"ABCB11",1,140,"同义",13203,"0.5238=44/84","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"]
["32629A(745)v180",76,41,0.5395,"32629A","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",605479,5,3,8,2,"ABCB11",1,140,"同义",13203,"0.5238=44/84","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"]
["32629A(745)v181",102,102,1,"32629A","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",601847,5,1,8,2,"ABCB11",1,140,"非编码区",16201,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v181",102,102,1,"32629A","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",605479,5,1,8,2,"ABCB11",1,140,"非编码区",16201,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v182",72,30,0.4167,"32629A","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",601847,5,3,8,2,"ABCB11",1,140,"非编码区",16202,"0.4026=31/77","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v182",72,30,0.4167,"32629A","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",605479,5,3,8,2,"ABCB11",1,140,"非编码区",16202,"0.4026=31/77","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v183",80,79,0.9875,"32629A","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",601847,3,1,8,2,"ABCB11",1,140,"非同义",12320,"0.9892=92/93","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"]
["32629A(745)v183",80,79,0.9875,"32629A","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",605479,3,1,8,2,"ABCB11",1,140,"非同义",12320,"0.9892=92/93","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"]
["32629A(745)v184",66,66,1,"32629A","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,"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2型","AR",601847,5,1,8,2,"ABCB11",1,140,"非编码区",16202,"1.0000=73/73","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v184",66,66,1,"32629A","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,"纯合","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",605479,5,1,8,2,"ABCB11",1,140,"非编码区",16202,"1.0000=73/73","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v185",121,121,1,"32629A","ABCB11","chr2:169847412","c.807T>C(exon9)","p.Y269Y","rs2287616",0.065,0.31,0.27,0.35,0.3,0.3,"纯合","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",601847,5,1,8,2,"ABCB11",1,140,"同义",13203,"1.0000=139/139","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v185",121,121,1,"32629A","ABCB11","chr2:169847412","c.807T>C(exon9)","p.Y269Y","rs2287616",0.065,0.31,0.27,0.35,0.3,0.3,"纯合","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",605479,5,1,8,2,"ABCB11",1,140,"同义",13203,"1.0000=139/139","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v186",190,187,0.9842,"32629A","ABCB11","chr2:169870855","c.108T>C(exon4)","p.D36D","rs3815675",0.063,0.3,0.26,0.34,0.3,0.3,"纯合","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",601847,5,1,8,2,"ABCB11",1,140,"同义",13203,"0.9865=219/222","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v186",190,187,0.9842,"32629A","ABCB11","chr2:169870855","c.108T>C(exon4)","p.D36D","rs3815675",0.063,0.3,0.26,0.34,0.3,0.3,"纯合","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",605479,5,1,8,2,"ABCB11",1,140,"同义",13203,"0.9865=219/222","位于基因组单拷贝区域+DNA结构正常",8647,"2q24","NM_003742"]
["32629A(745)v187",84,51,0.6071,"32629A","ABCB1","chr7:87138645","c.3435T>C(exon27)","p.I1145I","rs1045642",null,0.66,0.7,0.62,0.61,0.62,"杂合","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,120080,4,2,4,2,"ABCB1",1,180,"同义",13303,"0.5955=53/89","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"]
["32629A(745)v187",84,51,0.6071,"32629A","ABCB1","chr7:87138645","c.3435T>C(exon27)","p.I1145I","rs1045642",null,0.66,0.7,0.62,0.61,0.62,"杂合","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,612244,4,2,4,2,"ABCB1",1,180,"同义",13303,"0.5955=53/89","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"]
["32629A(745)v188",122,60,0.4918,"32629A","ABCB1","chr7:87160618","c.2677T>G(exon22)","p.S893A","rs2032582",null,0.48,0.53,0.44,0.43,0.47,"杂合","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,120080,3,2,4,2,"ABCB1",1,180,"非同义",12320,"0.4779=65/136","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"]
["32629A(745)v188",122,60,0.4918,"32629A","ABCB1","chr7:87160618","c.2677T>G(exon22)","p.S893A","rs2032582",null,0.48,0.53,0.44,0.43,0.47,"杂合","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,612244,3,2,4,2,"ABCB1",1,180,"非同义",12320,"0.4779=65/136","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"]
["32629A(745)v189",171,77,0.4503,"32629A","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",1,180,"非同义",12120,"0.4508=87/193","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927"]
["32629A(745)v189",171,77,0.4503,"32629A","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",1,180,"非同义",12120,"0.4508=87/193","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927"]
["32629A(745)v190",89,89,1,"32629A","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",1,180,"非编码区",14200,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927"]
["32629A(745)v190",89,89,1,"32629A","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",1,180,"非编码区",14200,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",5243,"7q21.12","NM_000927"]
["32629A(745)v191",71,71,1,"32629A","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",600803,5,1,3,3,"ABCB4",1,180,"非编码区",16202,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32629A(745)v191",71,71,1,"32629A","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",602347,5,1,3,3,"ABCB4",1,180,"非编码区",16202,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32629A(745)v191",71,71,1,"32629A","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",614972,5,1,3,3,"ABCB4",1,180,"非编码区",16202,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32629A(745)v192",87,87,1,"32629A","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",600803,5,1,3,3,"ABCB4",1,180,"非编码区",16203,"1.0000=96/96","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32629A(745)v192",87,87,1,"32629A","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",602347,5,1,3,3,"ABCB4",1,180,"非编码区",16203,"1.0000=96/96","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32629A(745)v192",87,87,1,"32629A","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",614972,5,1,3,3,"ABCB4",1,180,"非编码区",16203,"1.0000=96/96","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849"]
["32629A(745)v193",115,48,0.4174,"32629A","ABCB4","chr7:87082292","c.504C>T(exon6)","p.N168N","rs1202283",0.35,0.33,0.34,0.32,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19584064;24914347;25593501","I型胆囊疾病","AD,AR",600803,5,1,3,3,"ABCB4",1,180,"同义",13203,"0.4341=56/129","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","rs1202283|\"Intrahepatic_cholestasis_of_pregnancy_association\"|19584064","rs1202283|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v193",115,48,0.4174,"32629A","ABCB4","chr7:87082292","c.504C>T(exon6)","p.N168N","rs1202283",0.35,0.33,0.34,0.32,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19584064;24914347;25593501","进行性家族性肝内胆汁瘀积3型","AR",602347,5,3,3,3,"ABCB4",1,180,"同义",13203,"0.4341=56/129","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","rs1202283|\"Intrahepatic_cholestasis_of_pregnancy_association\"|19584064","rs1202283|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v193",115,48,0.4174,"32629A","ABCB4","chr7:87082292","c.504C>T(exon6)","p.N168N","rs1202283",0.35,0.33,0.34,0.32,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19584064;24914347;25593501","妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,3,3,"ABCB4",1,180,"同义",13203,"0.4341=56/129","位于基因组单拷贝区域+DNA结构正常",5244,"7q21.1","NM_018849","rs1202283|\"Intrahepatic_cholestasis_of_pregnancy_association\"|19584064","rs1202283|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v194",204,103,0.5049,"32629A","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,{"$nulls":3},5,null,10,0,"ABCB5",1,180,"剪切位点",16204,"0.4934=112/227","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941","rs17143187|\"Autism_spectrum_disorder\"|23352160"]
["32629A(745)v195",232,106,0.4569,"32629A","ABCB5","chr7:20685484","c.784C>A(exon8)","p.Q262K","rs2074000",0.14,0.46,0.45,0.47,0.49,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21298007,{"$nulls":3},5,null,10,0,"ABCB5",1,180,"非同义",12210,"0.4615=120/260","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32629A(745)v196",198,103,0.5202,"32629A","ABCB5","chr7:20685508","c.803+5T>G(exon8)","非编码区","rs11983326",0.32,0.16,0.16,0.15,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"非编码区",16202,"0.5273=116/220","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32629A(745)v197",115,50,0.4348,"32629A","ABCB5","chr7:20698270","c.1678A>G(exon14)","p.K560E","rs2301641",0.36,0.16,0.17,0.16,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23770371;21298007",{"$nulls":3},5,null,10,0,"ABCB5",1,180,"非同义",12220,"0.4207=61/145","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941","LYS560GLU|\"Melanoma_reduced_risk_association_with\"|23770371;rs2301641|\"Melanoma_reduced_risk_association_with\"|23770371"]
["32629A(745)v198",11,11,1,"32629A","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",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"非编码区",14200,"1.0000=12/12","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163993"]
["32629A(745)v199",4,4,1,"32629A","ABCB5","chr7:20706751","c.*361T>C(exon6)","非编码区","rs12537843",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"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"]
["32629A(745)v200",315,315,1,"32629A","ABCB5","chr7:20762646","c.2429G>T(exon21)","p.G810V","rs62453384",0.23,0.21,0.24,0.18,0.2,0.2,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21298007,{"$nulls":3},5,null,10,0,"ABCB5",1,180,"非同义",12210,"1.0000=360/360","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32629A(745)v201",122,57,0.4672,"32629A","ABCB5","chr7:20768013","c.2802G>A(exon23)","p.A934A","rs10254317",0.6,0.7,0.71,0.69,0.66,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"同义",13203,"0.4662=62/133","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32629A(745)v202",89,89,1,"32629A","ABCB5","chr7:20778646","c.2908G>A(exon24)","p.E970K","rs6461515",0.76,0.85,0.84,0.86,0.84,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21298007,{"$nulls":3},5,null,10,0,"ABCB5",1,180,"非同义",12220,"1.0000=102/102","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32629A(745)v203",61,61,1,"32629A","ABCB5","chr7:20778773","c.3024+11C>G(exon24)","非编码区","rs6461516",0.8,0.88,0.87,0.88,0.87,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"非编码区",16203,"1.0000=68/68","位于基因组单拷贝区域+DNA结构正常",340273,"7p21.1","NM_001163941"]
["32629A(745)v204",33,33,1,"32629A","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,111600,5,1,2,3,"ABCB6",1,73,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32629A(745)v204",33,33,1,"32629A","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",614497,5,1,2,3,"ABCB6",1,73,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32629A(745)v204",33,33,1,"32629A","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",615402,5,1,2,3,"ABCB6",1,73,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",10058,"2q36","NM_005689"]
["32629A(745)v205",4,4,1,"32629A","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,111600,5,1,2,3,"ABCB6",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",10058,"2q36","NM_005689"]
["32629A(745)v205",4,4,1,"32629A","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",614497,5,1,2,3,"ABCB6",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",10058,"2q36","NM_005689"]
["32629A(745)v205",4,4,1,"32629A","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",615402,5,1,2,3,"ABCB6",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",10058,"2q36","NM_005689"]
["32629A(745)v206",143,143,1,"32629A","ABCB7","chrX:74334687","c.169-18A>G(exon2)","非编码区","rs4148837",null,0.91,0.89,0.92,null,0.93,"纯合","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",1,220,"非编码区",16302,"1.0000=169/169","位于基因组单拷贝区域+DNA结构正常",22,"Xq13.3","NM_004299"]
["32629A(745)v207",33,16,0.4848,"32629A","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",{"$nulls":4},5,null,2,0,"ABCB8",1,51,"非编码区",16203,"0.5278=19/36","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188"]
["32629A(745)v208",60,28,0.4667,"32629A","ABCB8","chr7:150733025","c.984T>A(exon7)","p.R328R","rs2303926",0.3,0.25,0.23,0.26,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCB8",1,51,"同义",13203,"0.4308=28/65","位于基因组单拷贝区域+DNA结构正常",11194,"7q36","NM_007188"]
["32629A(745)v209",11,7,0.6364,"32629A","ABCB9","chr12:123414349","c.*109A>G(exon12)","非编码区","rs2270788",0.3,0.22,0.2,0.25,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23382691,{"$nulls":3},5,null,1,0,"ABCB9",0.99,53,"非编码区",14200,"0.6364=7/11","位于基因组单拷贝区域+DNA结构正常",23457,"12q24","NM_019625"]
["32629A(745)v210",62,62,1,"32629A","ABCC10","chr6:43399837","c.-11A>G(exon1)","非编码区","rs700008",0.88,0.95,0.95,0.95,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCC10",0.96,62,"非编码区",14200,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",89845,"6p21.1","NM_033450"]
["32629A(745)v211",54,54,1,"32629A","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",117800,5,1,1,1,"ABCC11",1,120,"非同义",11200,"1.0000=58/58","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"]
["32629A(745)v212",133,133,1,"32629A","ABCC12","chr16:48122582","c.3349C>T(exon24)","p.R1117C","rs7193955",0.59,0.89,0.88,0.91,0.87,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCC12",1,120,"非同义",12210,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",94160,"16q12.1","NM_033226"]
["32629A(745)v213",50,25,0.5,"32629A","ABCC1","chr16:16110375","c.512G>C(exon5)","p.R171P",{"$nulls":5},1E-3,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,5,0,"ABCC1",0.99,78,"非同义",12410,"0.4815=26/54","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32629A(745)v214",47,20,0.4255,"32629A","ABCC1","chr16:16162019","c.1684T>C(exon13)","p.L562L","rs35605",0.79,0.79,0.84,0.75,0.78,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16684361;24944790",{"$nulls":3},5,null,5,0,"ABCC1",0.99,78,"同义",13203,"0.4107=23/56","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32629A(745)v215",38,27,0.7105,"32629A","ABCC1","chr16:16173227","c.2007C>T(exon16)","p.P669P","rs2301666",0.0058,0.031,0.029,0.034,0.025,0.026,"杂合","未知","预测范围之外的同义突变",16684361,{"$nulls":3},4,null,5,0,"ABCC1",0.99,78,"同义",13103,"0.6512=28/43","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32629A(745)v216",43,43,1,"32629A","ABCC1","chr16:16205449","c.3079+10G>A(exon22)","非编码区","rs3851716",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABCC1",0.99,78,"非编码区",16203,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",4363,"16p13.1","NM_004996"]
["32629A(745)v217",40,24,0.6,"32629A","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",{"$nulls":4},4,null,5,0,"ABCC1",0.99,78,"非编码区",2500,"0.5957=28/47","位于基因组单拷贝区域+简单重复结构",4363,"16p13.1","NM_004996"]
["32629A(745)v218",104,48,0.4615,"32629A","ABCC2","chr10:101542578","c.-24C>T(exon1)","非编码区","rs717620",0.13,0.23,0.22,0.23,0.19,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19415824;17997497;18926681;19568750;20061166","杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,3,3,1,"ABCC2",1,130,"非编码区",14200,"0.4583=55/120","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392","rs717620|\"Non-response_to_antiepilepsy_medication_in_epileptics_association\"|19415824"]
["32629A(745)v219",126,126,1,"32629A","ABCC2","chr10:101544447","c.116A>T(exon2)","p.Y39F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,3,1,"ABCC2",1,130,"非同义",12230,"1.0000=145/145","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392"]
["32629A(745)v220",84,38,0.4524,"32629A","ABCC2","chr10:101604207","c.3972C>T(exon28)","p.I1324I","rs3740066",0.29,0.25,0.26,0.25,0.19,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17997497;18395921;18926681;19568750;22630058","杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,3,3,1,"ABCC2",1,130,"同义",13203,"0.4624=43/93","位于基因组单拷贝区域+DNA结构正常",1244,"10q24","NM_000392","rs3740066|\"Intrahepatic_cholestasis_of_pregnancy_association_with\"|17997497","rs3740066|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v221",34,17,0.5,"32629A","ABCC3","chr17:48753423","c.3039C>T(exon22)","p.G1013G","rs4148416",0.14,0.14,0.19,0.1,0.12,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17267408;24996541",{"$nulls":3},5,null,2,0,"ABCC3",1,74,"同义",13203,"0.5000=19/38","位于基因组单拷贝区域+DNA结构正常",8714,"17q22","NM_003786"]
["32629A(745)v222",83,41,0.494,"32629A","ABCC3","chr17:48761105","c.3942C>T(exon27)","p.H1314H","rs2277624",0.29,0.23,0.26,0.2,0.22,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCC3",1,74,"同义",13203,"0.5248=53/101","位于基因组单拷贝区域+DNA结构正常",8714,"17q22","NM_003786"]
["32629A(745)v223",4,2,0.5,"32629A","ABCC4","chr13:95673518","c.*311A>G(exon31)","非编码区","rs4148551",0.49,0.51,0.51,0.5,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ABCC4",0.99,150,"非编码区",14200,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v224",148,76,0.5135,"32629A","ABCC4","chr13:95673791","c.*38T>G(exon31)","非编码区","rs3742106",0.41,0.51,0.51,0.5,0.49,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;25426075",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"非编码区",14200,"0.5205=89/171","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v225",103,100,0.9709,"32629A","ABCC4","chr13:95673939","c.3871-3T>C(exon31)","非编码区","rs9524765",0.93,0.99,1,0.99,0.99,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"非编码区",16202,"0.9727=107/110","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v226",141,75,0.5319,"32629A","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",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.5153=84/163","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v227",147,80,0.5442,"32629A","ABCC4","chr13:95726541","c.2844T>C(exon23)","p.F948F","rs1189466",0.9,0.82,0.84,0.81,0.79,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.5301=88/166","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v228",123,66,0.5366,"32629A","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,{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.5149=69/134","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v229",66,29,0.4394,"32629A","ABCC4","chr13:95858978","c.969A>G(exon8)","p.S323S","rs2274405",0.63,0.53,0.51,0.55,0.55,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18213362;18364470;25426075",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.4430=35/79","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v230",57,24,0.4211,"32629A","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",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.4179=28/67","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v231",37,21,0.5676,"32629A","ABCC4","chr13:95859035","c.912G>T(exon8)","p.K304N","rs2274407",0.15,0.15,0.16,0.14,0.14,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;24991206;25426075",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"非同义",12220,"0.5854=24/41","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v232",83,46,0.5542,"32629A","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",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.5778=52/90","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v233",83,38,0.4578,"32629A","ABCC4","chr13:95886854","c.531+10A>G(exon4)","非编码区","rs11568637",0.036,0.11,0.12,0.097,0.069,0.087,"杂合","未知","内含子突变可能影响调控",18364470,{"$nulls":3},4,null,13,0,"ABCC4",0.99,150,"非编码区",16103,"0.4444=40/90","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v234",79,42,0.5316,"32629A","ABCC4","chr13:95899889","c.185+8G>A(exon2)","非编码区","rs763815541",{"$nulls":4},0.00052,0.0012,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,13,0,"ABCC4",0.99,150,"非编码区",16303,"0.5412=46/85","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v235",14,6,0.4286,"32629A","ABCC4","chr13:95953617","c.-49C>T(exon1)","非编码区","rs3751333",0.036,0.11,0.11,0.097,0.073,0.1,"杂合","未知","UTR突变可能影响蛋白翻译",18364470,{"$nulls":3},3,null,13,0,"ABCC4",0.99,150,"非编码区",14100,"0.4000=6/15","位于基因组单拷贝区域+DNA结构正常",10257,"13q32","NM_005845"]
["32629A(745)v236",99,99,1,"32629A","ABCC5","chr3:183660585","c.3624C>T(exon25)","p.L1208L","rs3749442",0.25,0.44,0.47,0.41,0.42,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=109/109","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688"]
["32629A(745)v237",211,211,1,"32629A","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",{"$nulls":3},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=234/234","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688"]
["32629A(745)v238",114,114,1,"32629A","ABCC5","chr3:183696402","c.1185T>C(exon9)","p.A395A","rs1132776",0.68,0.83,0.86,0.81,0.83,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24924344,{"$nulls":3},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=125/125","位于基因组单拷贝区域+DNA结构正常",10057,"3q27","NM_005688"]
["32629A(745)v239",41,24,0.5854,"32629A","ABCC6","chr16:16255437","c.3507-16T>C(exon25)","非编码区","rs3213471",0.071,0.062,0.057,0.068,0.063,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",12384774,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,80,"非编码区",16202,"0.5682=25/44","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v239",41,24,0.5854,"32629A","ABCC6","chr16:16255437","c.3507-16T>C(exon25)","非编码区","rs3213471",0.071,0.062,0.057,0.068,0.063,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",12384774,"弹性纤维假黄瘤","AR",264800,5,3,5,3,"ABCC6",1,80,"非编码区",16202,"0.5682=25/44","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v239",41,24,0.5854,"32629A","ABCC6","chr16:16255437","c.3507-16T>C(exon25)","非编码区","rs3213471",0.071,0.062,0.057,0.068,0.063,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",12384774,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,5,3,"ABCC6",1,80,"非编码区",16202,"0.5682=25/44","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v240",57,57,1,"32629A","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",1,80,"非同义",12230,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v240",57,57,1,"32629A","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",1,80,"非同义",12230,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v240",57,57,1,"32629A","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",1,80,"非同义",12230,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v241",46,46,1,"32629A","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",1,80,"同义",13203,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v241",46,46,1,"32629A","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",1,80,"同义",13203,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v241",46,46,1,"32629A","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",1,80,"同义",13203,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v242",37,37,1,"32629A","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",1,80,"非编码区",16203,"1.0000=46/46","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v242",37,37,1,"32629A","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",1,80,"非编码区",16203,"1.0000=46/46","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v242",37,37,1,"32629A","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",1,80,"非编码区",16203,"1.0000=46/46","位于基因组单拷贝区域+DNA结构正常",368,"16p13.1","NM_001171"]
["32629A(745)v243",43,43,1,"32629A","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",1,80,"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"]
["32629A(745)v243",43,43,1,"32629A","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",1,80,"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"]
["32629A(745)v243",43,43,1,"32629A","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",1,80,"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"]
["32629A(745)v244",38,15,0.3947,"32629A","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",125853,5,1,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42","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"]
["32629A(745)v244",38,15,0.3947,"32629A","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",240800,5,1,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42","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"]
["32629A(745)v244",38,15,0.3947,"32629A","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",256450,5,1,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42","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"]
["32629A(745)v244",38,15,0.3947,"32629A","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",606176,5,1,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42","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"]
["32629A(745)v244",38,15,0.3947,"32629A","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,610374,5,2,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42","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"]
["32629A(745)v245",62,32,0.5161,"32629A","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",125853,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67","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"]
["32629A(745)v245",62,32,0.5161,"32629A","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",240800,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67","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"]
["32629A(745)v245",62,32,0.5161,"32629A","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",256450,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67","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"]
["32629A(745)v245",62,32,0.5161,"32629A","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",606176,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67","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"]
["32629A(745)v245",62,32,0.5161,"32629A","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,610374,5,2,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67","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"]
["32629A(745)v246",55,55,1,"32629A","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",125853,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60","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"]
["32629A(745)v246",55,55,1,"32629A","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",240800,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60","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"]
["32629A(745)v246",55,55,1,"32629A","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",256450,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60","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"]
["32629A(745)v246",55,55,1,"32629A","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",606176,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60","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"]
["32629A(745)v246",55,55,1,"32629A","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,610374,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60","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"]
["32629A(745)v247",41,19,0.4634,"32629A","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",125853,5,1,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44","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"]
["32629A(745)v247",41,19,0.4634,"32629A","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",240800,5,1,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44","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"]
["32629A(745)v247",41,19,0.4634,"32629A","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",256450,5,1,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44","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"]
["32629A(745)v247",41,19,0.4634,"32629A","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",606176,5,1,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44","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"]
["32629A(745)v247",41,19,0.4634,"32629A","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,610374,5,2,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44","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"]
["32629A(745)v248",110,65,0.5909,"32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"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",125853,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118","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"]
["32629A(745)v248",110,65,0.5909,"32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"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",240800,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118","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"]
["32629A(745)v248",110,65,0.5909,"32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"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",256450,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118","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"]
["32629A(745)v248",110,65,0.5909,"32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"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",606176,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118","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"]
["32629A(745)v248",110,65,0.5909,"32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"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,610374,5,2,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118","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"]
["32629A(745)v249",48,25,0.5208,"32629A","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",125853,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56","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"]
["32629A(745)v249",48,25,0.5208,"32629A","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",240800,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56","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"]
["32629A(745)v249",48,25,0.5208,"32629A","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",256450,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56","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"]
["32629A(745)v249",48,25,0.5208,"32629A","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",606176,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56","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"]
["32629A(745)v249",48,25,0.5208,"32629A","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,610374,5,2,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56","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"]
["32629A(745)v250",189,189,1,"32629A","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",1,200,"非编码区",16202,"1.0000=215/215","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"]
["32629A(745)v250",189,189,1,"32629A","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",1,200,"非编码区",16202,"1.0000=215/215","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"]
["32629A(745)v250",189,189,1,"32629A","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",1,200,"非编码区",16202,"1.0000=215/215","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"]
["32629A(745)v251",190,190,1,"32629A","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",1,200,"同义",13203,"1.0000=230/230","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"]
["32629A(745)v251",190,190,1,"32629A","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",1,200,"同义",13203,"1.0000=230/230","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"]
["32629A(745)v251",190,190,1,"32629A","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",1,200,"同义",13203,"1.0000=230/230","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"]
["32629A(745)v252",152,152,1,"32629A","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",1,200,"非编码区",16203,"1.0000=170/170","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"]
["32629A(745)v252",152,152,1,"32629A","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",1,200,"非编码区",16203,"1.0000=170/170","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"]
["32629A(745)v252",152,152,1,"32629A","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",1,200,"非编码区",16203,"1.0000=170/170","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"]
["32629A(745)v253",70,31,0.4429,"32629A","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",1,200,"非编码区",16201,"0.4342=33/76","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"]
["32629A(745)v253",70,31,0.4429,"32629A","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",1,200,"非编码区",16201,"0.4342=33/76","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"]
["32629A(745)v253",70,31,0.4429,"32629A","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",1,200,"非编码区",16201,"0.4342=33/76","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"]
["32629A(745)v254",27,11,0.4074,"32629A","ABCD1","chrX:152994677","c.901-10C>T(exon2)","非编码区","rs2269365",null,0.057,0.013,0.1,0.062,0.034,"杂合","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",300100,4,3,2,1,"ABCD1",1,62,"非编码区",16302,"0.3438=11/32","位于基因组单拷贝区域+DNA结构正常",215,"Xq28","NM_000033"]
["32629A(745)v255",13,5,0.3846,"32629A","ABCD1","chrX:153009197","c.*8G>C(exon10)","非编码区","rs2229539",null,0.59,0.59,0.58,0.46,0.65,"杂合","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",300100,3,3,2,1,"ABCD1",1,62,"非编码区",14300,"0.3571=5/14","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"]
["32629A(745)v256",2,2,1,"32629A","ABCD2","chr12:39947308","c.*406C>T(exon10)","非编码区","rs4294600",0.11,0.14,0.12,0.16,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCD2",1,170,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",225,"12q12","NM_005164"]
["32629A(745)v257",11,3,0.2727,"32629A","ABCD3","chr1:94883995","c.-40C>T(exon1)","非编码区","rs4148058",0.053,0.15,0.16,0.13,0.17,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCD3",1,250,"非编码区",14200,"0.2727=3/11","位于基因组单拷贝区域+DNA结构正常",5825,"1p21.3","NM_002858"]
["32629A(745)v258",152,69,0.4539,"32629A","ABCD3","chr1:94972207","c.1845+9G>A(exon21)","非编码区","rs192519676",0.0006,0.0048,0.0048,0.0049,4.3E-3,0.0049,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"ABCD3",1,250,"非编码区",16103,"0.4524=76/168","位于基因组单拷贝区域+DNA结构正常",5825,"1p21.3","NM_002858"]
["32629A(745)v259",78,37,0.4744,"32629A","ABCD3","chr1:94982785","c.*100A>T(exon23)","非编码区","rs662813",0.28,0.35,0.39,0.31,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCD3",1,250,"非编码区",14200,"0.4659=41/88","位于基因组单拷贝区域+DNA结构正常",5825,"1p21.3","NM_002858"]
["32629A(745)v260",73,35,0.4795,"32629A","ABCD3","chr1:94982810","c.*125A>G(exon23)","非编码区","rs337592",0.11,0.12,0.14,0.092,0.095,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCD3",1,250,"非编码区",14200,"0.4815=39/81","位于基因组单拷贝区域+DNA结构正常",5825,"1p21.3","NM_002858"]
["32629A(745)v261",4,2,0.5,"32629A","ABCD4","chr14:74752902","c.*262T>G(exon19)","非编码区","rs2466",0.26,0.52,0.56,0.49,0.25,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甲基丙二酸尿症和高胱氨酸尿 cblJ型","AR",614857,5,3,1,1,"ABCD4",1,87,"非编码区",14200,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",5826,"14q24.3","NM_005050"]
["32629A(745)v262",152,152,1,"32629A","ABCE1","chr4:146046138","c.1641-4T>C(exon17)","非编码区","rs4835203",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCE1",1,230,"非编码区",16202,"1.0000=174/174","位于基因组单拷贝区域+DNA结构正常",6059,"4q31","NM_002940"]
["32629A(745)v263",44,44,1,"32629A","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",{"$nulls":4},5,null,2,0,"ABCF2",1,71,"同义",13203,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",10061,"7q36","NM_007189"]
["32629A(745)v264",82,82,1,"32629A","ABCF2","chr7:150921950","c.279T>C(exon3)","p.L93L","rs6464133",0.74,0.9,0.91,0.88,0.89,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCF2",1,71,"同义",13203,"1.0000=91/91","位于基因组多拷贝区域+DNA结构正常",10061,"7q36","NM_007189"]
["32629A(745)v265",32,18,0.5625,"32629A","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",{"$nulls":4},3,null,3,0,"ABCF3",1,88,"非编码区",2430,"0.5455=18/33","位于基因组单拷贝区域+简单重复结构",55324,"3q27.1","NM_018358"]
["32629A(745)v266",74,29,0.3919,"32629A","ABCF3","chr3:183904049","c.54A>G(exon1)","p.Q18Q","rs11539876",0.17,0.32,0.36,0.29,0.28,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCF3",1,88,"同义",13203,"0.3875=31/80","位于基因组单拷贝区域+DNA结构正常",55324,"3q27.1","NM_018358"]
["32629A(745)v267",72,40,0.5556,"32629A","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",{"$nulls":4},5,null,3,0,"ABCF3",1,88,"非编码区",16202,"0.5185=42/81","位于基因组单拷贝区域+DNA结构正常",55324,"3q27.1","NM_018358"]
["32629A(745)v268",57,32,0.5614,"32629A","ABCG1","chr21:43640066","c.-16C>G(exon1)","非编码区","rs9975490",0.16,0.26,0.25,0.27,0.25,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCG1",0.99,82,"非编码区",14200,"0.5645=35/62","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_207174"]
["32629A(745)v269",58,36,0.6207,"32629A","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",{"$nulls":4},5,null,4,0,"ABCG1",0.99,82,"非编码区",16203,"0.6230=38/61","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_207174"]
["32629A(745)v270",80,40,0.5,"32629A","ABCG1","chr21:43708431-43708432","c.1230+9(exon11)_c.1230+10(exon11)insC","非编码区","rs2234720",{"$nulls":4},0.29,0.32,"杂合","未知","内含子突变",{"$nulls":4},4,null,4,0,"ABCG1",0.99,82,"非编码区",2500,"0.5057=44/87","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_207627"]
["32629A(745)v271",8,2,0.25,"32629A","ABCG1","chr21:43716647","c.*145C>T(exon16)","非编码区","rs371391053",0.0004,0.0024,0.0048,0,1.5E-3,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ABCG1",0.99,82,"非编码区",14100,"0.2500=2/8","位于基因组单拷贝区域+DNA结构正常",9619,"21q22.3","NM_207627"]
["32629A(745)v272",129,129,1,"32629A","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",1,160,"非编码区",16203,"1.0000=141/141","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_004827"]
["32629A(745)v272",129,129,1,"32629A","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",1,160,"非编码区",16203,"1.0000=141/141","位于基因组单拷贝区域+DNA结构正常",9429,"4q22","NM_004827"]
["32629A(745)v273",83,27,0.3253,"32629A","ABCG2","chr4:89052323","c.421C>A(exon5)","p.Q141K","rs2231142",0.12,0.28,0.26,0.31,0.3,0.3,"杂合","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",1,160,"非同义",11200,"0.3069=31/101","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"]
["32629A(745)v273",83,27,0.3253,"32629A","ABCG2","chr4:89052323","c.421C>A(exon5)","p.Q141K","rs2231142",0.12,0.28,0.26,0.31,0.3,0.3,"杂合","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,614490,5,2,2,2,"ABCG2",1,160,"非同义",11200,"0.3069=31/101","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"]
["32629A(745)v274",24,24,1,"32629A","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",1,63,"非编码区",2430,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",64137,"11q23.3","NM_022169"]
["32629A(745)v275",77,77,1,"32629A","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",1,77,"非编码区",14200,"1.0000=95/95","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"]
["32629A(745)v275",77,77,1,"32629A","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",1,77,"非编码区",14200,"1.0000=95/95","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"]
["32629A(745)v276",51,51,1,"32629A","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",1,77,"非编码区",16202,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32629A(745)v276",51,51,1,"32629A","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",1,77,"非编码区",16202,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32629A(745)v277",46,46,1,"32629A","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",1,77,"非同义",12210,"1.0000=49/49","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"]
["32629A(745)v277",46,46,1,"32629A","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",1,77,"非同义",12210,"1.0000=49/49","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"]
["32629A(745)v278",76,37,0.4868,"32629A","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",1,77,"非编码区",2500,"0.4938=40/81","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32629A(745)v278",76,37,0.4868,"32629A","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",1,77,"非编码区",2500,"0.4938=40/81","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32629A(745)v279",80,80,1,"32629A","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",1,77,"非编码区",16202,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32629A(745)v279",80,80,1,"32629A","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",1,77,"非编码区",16202,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",64241,"2p21","NM_022437"]
["32629A(745)v280",117,117,1,"32629A","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",1,77,"非同义",12320,"1.0000=131/131","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"]
["32629A(745)v280",117,117,1,"32629A","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",1,77,"非同义",12320,"1.0000=131/131","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"]
["32629A(745)v281",14,9,0.6429,"32629A","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",1,70,"非编码区",14200,"0.5625=9/16","位于基因组多拷贝区域+DNA结构正常",83451,"7q11.23","NM_148912"]
["32629A(745)v282",39,23,0.5897,"32629A","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",{"$nulls":4},5,null,2,0,"ABHD11",1,70,"同义",13203,"0.6087=28/46","位于基因组单拷贝区域+DNA结构正常",83451,"7q11.23","NM_148912"]
["32629A(745)v283",261,118,0.4521,"32629A","ABHD12B","chr14:51368610","c.844A>G(exon10)","p.I282V","rs28564871",0.28,0.46,0.47,0.46,0.46,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非同义",12220,"0.4388=129/294","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32629A(745)v284",98,58,0.5918,"32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非编码区",16202,"0.5909=65/110","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32629A(745)v285",147,71,0.483,"32629A","ABHD12B","chr14:51371121","c.*37C>T(exon13)","非编码区","rs4901065",0.28,0.46,0.47,0.46,0.46,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非编码区",14200,"0.4639=77/166","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32629A(745)v286",143,70,0.4895,"32629A","ABHD12B","chr14:51371130","c.*46C>T(exon13)","非编码区","rs11157780",0.25,0.46,0.47,0.46,0.46,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非编码区",14200,"0.4750=76/160","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32629A(745)v287",113,55,0.4867,"32629A","ABHD12B","chr14:51371150","c.*66C>T(exon13)","非编码区","rs11157781",0.28,0.46,0.47,0.46,0.46,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非编码区",14200,"0.4640=58/125","位于基因组单拷贝区域+DNA结构正常",145447,"14q22.1","NM_001206673"]
["32629A(745)v288",49,19,0.3878,"32629A","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,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"非编码区",2420,"0.4038=21/52","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_015600"]
["32629A(745)v289",69,41,0.5942,"32629A","ABHD12","chr20:25275621","c.1203A>G(exon13)","p.S401S","rs73598373",0.056,0.043,0.062,0.024,0.043,0.068,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"同义",13203,"0.5769=45/78","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_015600"]
["32629A(745)v290",7,3,0.4286,"32629A","ABHD12","chr20:25281184","c.*297C>G(exon13)","非编码区","rs11100",0.54,0.94,0.93,0.95,null,null,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"非编码区",14200,"0.4286=3/7","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472"]
["32629A(745)v291",36,21,0.5833,"32629A","ABHD12","chr20:25281333","c.*148C>T(exon13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"非编码区",14200,"0.5526=21/38","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472"]
["32629A(745)v292",60,34,0.5667,"32629A","ABHD12","chr20:25281398","c.*83G>A(exon13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"非编码区",14200,"0.5538=36/65","位于基因组单拷贝区域+DNA结构正常",26090,"20p11.21","NM_001042472"]
["32629A(745)v293",34,19,0.5588,"32629A","ABHD12","chr20:25282944","c.1068T>C(exon12)","p.D356D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"同义",13203,"0.5429=19/35","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"]
["32629A(745)v294",59,59,1,"32629A","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",{"$nulls":4},5,null,3,0,"ABHD15",1,41,"非编码区",14200,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147"]
["32629A(745)v295",41,26,0.6341,"32629A","ABHD15","chr17:27889963","c.1023G>C(exon2)","p.P341P","rs721479",0.22,0.21,0.2,0.22,0.22,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD15",1,41,"同义",13203,"0.6170=29/47","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147"]
["32629A(745)v296",33,33,1,"32629A","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",{"$nulls":4},5,null,3,0,"ABHD15",1,41,"非同义",12220,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",116236,"17q11.2","NM_198147"]
["32629A(745)v297",11,11,1,"32629A","ABHD16B","chr20:62492772","c.-122C>G(exon1)","非编码区","rs6011193",0.89,0.97,0.98,0.97,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,19,"非编码区",14200,"1.0000=12/12","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622"]
["32629A(745)v298",15,8,0.5333,"32629A","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",{"$nulls":4},5,null,4,0,"ABHD16B",1,19,"非同义",12220,"0.5333=8/15","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622"]
["32629A(745)v299",19,9,0.4737,"32629A","ABHD16B","chr20:62493978","c.1085G>A(exon1)","p.R362Q","rs74444574",0.065,0.14,0.15,0.13,0.079,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,19,"非同义",12220,"0.4545=10/22","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622"]
["32629A(745)v300",22,10,0.4545,"32629A","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",{"$nulls":4},5,null,4,0,"ABHD16B",1,19,"同义",13203,"0.4231=11/26","位于基因组单拷贝区域+DNA结构正常",140701,"20q13.33","NM_080622"]
["32629A(745)v301",58,58,1,"32629A","ABHD1","chr2:27351948","c.411T>G(exon3)","p.D137E","rs6715286",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABHD1",1,80,"非同义",12230,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",84696,"2p23.3","NM_032604"]
["32629A(745)v302",28,28,1,"32629A","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",{"$nulls":4},5,null,2,0,"ABHD2",1,94,"非编码区",14200,"1.0000=28/28","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011"]
["32629A(745)v303",137,137,1,"32629A","ABHD2","chr15:89744476","c.*5822G>T(exon15)","非编码区","rs6416547",0.91,1,1,1,0.99,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABHD2",1,94,"非编码区",14200,"1.0000=155/155","位于基因组多拷贝区域+DNA结构正常",11057,"15q26.1","NM_007011"]
["32629A(745)v304",26,16,0.6154,"32629A","ABHD3","chr18:19284677-19284678","c.-52(exon1)_c.-51(exon1)insTCGCCCGCTC","非编码区","rs150746310",{"$nulls":4},0.0024,0.054,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ABHD3",1,150,"非编码区",2430,"0.6129=19/31","位于基因组单拷贝区域+DNA结构正常",171586,"18q11.2","NM_138340"]
["32629A(745)v305",10,10,1,"32629A","ABHD8","chr19:17412218","c.208G>A(exon2)","p.G70R","rs3745186",0.13,0.15,0.16,0.14,0.16,0.15,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABHD8",1,30,"非同义",12220,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",79575,"19p13.11","NM_024527"]
["32629A(745)v306",163,94,0.5767,"32629A","ABI1","chr10:27065976","c.462+18C>T(exon3)","非编码区","rs7096584",0.21,0.096,0.095,0.097,null,0.099,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABI1",0.97,180,"非编码区",16203,"0.5798=109/188","位于基因组单拷贝区域+DNA结构正常",10006,"10p11.2","NM_005470"]
["32629A(745)v307",98,47,0.4796,"32629A","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",{"$nulls":4},4,null,3,0,"ABI3BP",1,210,"非编码区",2500,"0.5044=57/113","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429"]
["32629A(745)v308",102,102,1,"32629A","ABI3BP","chr3:100617680","c.408G>A(exon4)","p.S136S","rs2245370",0.73,0.92,0.95,0.89,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABI3BP",1,210,"同义",13203,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429"]
["32629A(745)v309",76,40,0.5263,"32629A","ABI3BP","chr3:100712249","c.1A>G(exon1)","p.M1V","rs3732895",0.24,0.44,0.41,0.48,0.46,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABI3BP",1,210,"起始密码子",18220,"0.5000=44/88","位于基因组单拷贝区域+DNA结构正常",25890,"3q12","NM_015429"]
["32629A(745)v310",24,24,1,"32629A","ABI3","chr17:47297297","c.626T>C(exon5)","p.F209S","rs616338",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABI3",1,53,"非同义",12230,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",51225,"17q21.3","NM_016428"]
["32629A(745)v311",13,13,1,"32629A","ABL1","chr9:133761001","c.3381A>G(exon11)","p.P1127P","rs1056171",0.65,0.61,0.61,0.61,0.59,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABL1",1,80,"同义",13203,"1.0000=16/16","位于基因组单拷贝区域+DNA结构正常",25,"9q34.1","NM_007313"]
["32629A(745)v312",13,13,1,"32629A","ABLIM1","chr10:116195776","c.*243G>C(exon24)","非编码区","rs1057139",0.66,0.63,0.59,0.67,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABLIM1",1,150,"非编码区",14200,"1.0000=14/14","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003408"]
["32629A(745)v313",91,91,1,"32629A","ABLIM1","chr10:116307504","c.525T>C(exon5)","p.N175N","rs2247528",0.78,0.66,0.63,0.69,0.63,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABLIM1",1,150,"同义",13203,"1.0000=97/97","位于基因组单拷贝区域+DNA结构正常",3983,"10q25","NM_001003408"]
["32629A(745)v314",70,25,0.3571,"32629A","ABLIM2","chr4:8009737","c.*32G>A(exon14)","非编码区","rs16841552",0.17,0.3,0.3,0.31,0.31,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABLIM2",1,82,"非编码区",14200,"0.3421=26/76","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130088"]
["32629A(745)v315",72,28,0.3889,"32629A","ABLIM2","chr4:8009759","c.*10C>T(exon14)","非编码区","rs17180256",0.77,0.78,0.78,0.78,0.78,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABLIM2",1,82,"非编码区",14200,"0.3766=29/77","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130088"]
["32629A(745)v316",49,49,1,"32629A","ABLIM2","chr4:8062689","c.763+5A>G(exon7)","非编码区","rs6811028",0.92,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABLIM2",1,82,"非编码区",16202,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083"]
["32629A(745)v317",49,49,1,"32629A","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,4,0,"ABLIM2",1,82,"非编码区",16202,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",84448,"4p16.1","NM_001130083"]
["32629A(745)v318",14,7,0.5,"32629A","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,616093,5,2,11,1,"ABO",1,56,"非同义",12230,"0.4667=7/15","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v319",31,12,0.3871,"32629A","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,616093,5,2,11,1,"ABO",1,56,"同义",13203,"0.3824=13/34","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v320",50,25,0.5,"32629A","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,616093,5,2,11,1,"ABO",1,56,"同义",13203,"0.5185=28/54","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v321",55,23,0.4182,"32629A","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,616093,5,2,11,1,"ABO",1,56,"非同义",12230,"0.4286=24/56","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v322",31,20,0.6452,"32629A","ABO","chr9:136131651","c.467C>T(exon7)","p.P156L","rs1053878",0.13,0.18,0.2,0.15,0.2,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8456556;19169360","ABO血型系统",null,616093,5,2,11,1,"ABO",1,56,"非同义",12230,"0.6571=23/35","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469",null,"PRO156LEU|association|OMIM:616093|OMIM:110300.0004|no assertion for the individual variant|PubMed:8456556"]
["32629A(745)v323",89,41,0.4607,"32629A","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,616093,5,2,11,1,"ABO",1,56,"同义",13203,"0.4526=43/95","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v324",77,40,0.5195,"32629A","ABO","chr9:136132908-136132909","c.260(exon6)_c.262(exon6)insG","p.Val87_Thr88=fs","rs8176719",0.34,0.41,0.42,0.39,0.43,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18464913;19169360;21257350;21306478;21680535","ABO血型系统",null,616093,5,2,11,1,"ABO",1,56,"移码",2120,"0.5244=43/82","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v325",127,73,0.5748,"32629A","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,616093,5,2,11,1,"ABO",1,56,"非同义",12230,"0.5500=77/140","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v326",48,19,0.3958,"32629A","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,616093,5,2,11,1,"ABO",1,56,"同义",13203,"0.3818=21/55","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v327",48,20,0.4167,"32629A","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,616093,5,2,11,1,"ABO",1,56,"非同义",12230,"0.4000=22/55","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v328",68,31,0.4559,"32629A","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,616093,5,2,11,1,"ABO",1,56,"非同义",12230,"0.4384=32/73","位于基因组单拷贝区域+DNA结构正常",28,"9q34.2","NM_020469"]
["32629A(745)v329",44,44,1,"32629A","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,2,0,"ABP1",1,64,"非同义",12220,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091"]
["32629A(745)v330",45,45,1,"32629A","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",{"$nulls":4},5,null,2,0,"ABP1",1,64,"同义",13203,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",26,"7q36.1","NM_001091"]
["32629A(745)v331",23,10,0.4348,"32629A","ABRA","chr8:107782335","c.84C>T(exon1)","p.S28S","rs11996457",0.28,0.18,0.18,0.17,0.17,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABRA",1,70,"同义",13203,"0.3846=10/26","位于基因组单拷贝区域+DNA结构正常",137735,"8q23.1","NM_139166"]
["32629A(745)v332",10,4,0.4,"32629A","ABRA","chr8:107782395","c.24C>T(exon1)","p.S8S","rs11996466",0.44,0.52,0.52,0.53,0.56,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABRA",1,70,"同义",13203,"0.3636=4/11","位于基因组单拷贝区域+DNA结构正常",137735,"8q23.1","NM_139166"]
["32629A(745)v333",61,33,0.541,"32629A","ABR","chr17:912914","c.2204+5C>T(exon21)","非编码区","rs12600864",0.16,0.15,0.15,0.14,0.15,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABR",0.98,67,"非编码区",16202,"0.5152=34/66","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32629A(745)v334",45,21,0.4667,"32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABR",0.98,67,"非编码区",16203,"0.4600=23/50","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32629A(745)v335",35,18,0.5143,"32629A","ABR","chr17:960361","c.1244-19C>A(exon13)","非编码区","rs2304960",0.025,0.06,0.052,0.068,0.061,0.05,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,6,0,"ABR",0.98,67,"非编码区",16102,"0.4878=20/41","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32629A(745)v336",38,38,1,"32629A","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",{"$nulls":4},5,null,6,0,"ABR",0.98,67,"非编码区",16202,"1.0000=46/46","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32629A(745)v337",18,18,1,"32629A","ABR","chr17:970413","c.948G>A(exon10)","p.E316E","rs2262150",0.9,0.97,0.97,0.97,0.97,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABR",0.98,67,"同义",13203,"1.0000=18/18","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32629A(745)v338",57,57,1,"32629A","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",{"$nulls":4},5,null,6,0,"ABR",0.98,67,"非编码区",16203,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",29,"17p13.3","NM_001159746"]
["32629A(745)v339",115,115,1,"32629A","ABT1","chr6:26597333","c.123A>G(exon1)","p.K41K","rs3800302",0.71,0.76,0.82,0.71,0.77,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABT1",1,73,"同义",13203,"1.0000=130/130","位于基因组多拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375"]
["32629A(745)v340",90,52,0.5778,"32629A","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",{"$nulls":4},5,null,2,0,"ABT1",1,73,"同义",13203,"0.5900=59/100","位于基因组单拷贝区域+DNA结构正常",29777,"6p22.2","NM_013375"]
["32629A(745)v341",79,79,1,"32629A","ACAA2","chr18:47318503","c.753+19A>T(exon6)","非编码区","rs10502901",0.16,0.26,0.24,0.28,0.31,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACAA2",1,130,"非编码区",16203,"1.0000=98/98","位于基因组单拷贝区域+DNA结构正常",10449,"18q21.1","NM_006111"]
["32629A(745)v342",144,144,1,"32629A","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",1,150,"同义",13203,"1.0000=160/160","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198839"]
["32629A(745)v343",130,62,0.4769,"32629A","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",1,150,"同义",13203,"0.4667=70/150","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198839"]
["32629A(745)v344",160,63,0.3937,"32629A","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",1,150,"非编码区",16202,"0.3704=70/189","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198839"]
["32629A(745)v345",155,83,0.5355,"32629A","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",1,150,"非编码区",14300,"0.5314=93/175","位于基因组单拷贝区域+DNA结构正常",31,"17q21","NM_198839"]
["32629A(745)v346",137,71,0.5182,"32629A","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",1,150,"非编码区",2500,"0.5097=79/155","位于基因组单拷贝区域+简单重复结构",31,"17q21","NM_198834"]
["32629A(745)v347",61,61,1,"32629A","ACACB","chr12:109577735","c.525C>T(exon1)","p.S175S","rs2878960",0.4,0.26,0.23,0.3,0.27,0.25,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ACACB",1,98,"同义",13203,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32629A(745)v348",50,50,1,"32629A","ACACB","chr12:109617865","c.1791T>C(exon10)","p.D597D","rs11065772",0.68,0.74,0.7,0.78,0.78,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ACACB",1,98,"同义",13203,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32629A(745)v349",150,78,0.52,"32629A","ACACB","chr12:109629457","c.2184C>T(exon13)","p.G728G","rs7135947",0.38,0.26,0.23,0.3,0.29,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ACACB",1,98,"同义",13203,"0.5250=84/160","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32629A(745)v350",69,34,0.4928,"32629A","ACACB","chr12:109637188","c.2628-19G>C(exon17)","非编码区","rs7299171",0.57,0.31,0.25,0.36,0.33,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ACACB",1,98,"非编码区",16202,"0.4800=36/75","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32629A(745)v351",46,24,0.5217,"32629A","ACACB","chr12:109670468","c.4002-6T>C(exon28)","非编码区","rs3742027",0.87,0.69,0.7,0.67,0.72,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ACACB",1,98,"非编码区",16202,"0.5577=29/52","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32629A(745)v352",103,50,0.4854,"32629A","ACACB","chr12:109675029","c.4506T>C(exon33)","p.L1502L","rs2241220",0.78,0.69,0.69,0.68,0.72,0.74,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18031993;19846279",{"$nulls":3},5,null,8,0,"ACACB",1,98,"同义",13203,"0.4874=58/119","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093"]
["32629A(745)v353",109,109,1,"32629A","ACACB","chr12:109696838","c.6421G>A(exon46)","p.V2141I","rs2075260",0.74,0.69,0.69,0.68,0.72,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21887335,{"$nulls":3},5,null,8,0,"ACACB",1,98,"非同义",12220,"1.0000=114/114","位于基因组单拷贝区域+DNA结构正常",32,"12q24.11","NM_001093","VAL2141ILE|\"Reduced_mRNA_expression\"|21887335"]
["32629A(745)v354",2,2,1,"32629A","ACACB","chr12:109704325","c.*158C>T(exon52)","非编码区","rs2075263",0.78,0.69,0.69,0.68,0.74,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20855566,{"$nulls":3},5,null,8,0,"ACACB",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",32,"12q24.11","NM_001093"]
["32629A(745)v355",45,45,1,"32629A","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",{"$nulls":4},5,null,2,0,"ACAD10",1,100,"非编码区",16203,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538"]
["32629A(745)v356",38,38,1,"32629A","ACAD10","chr12:112191641","c.2976G>A(exon20)","p.A992A","rs2074055",0.2,0.59,0.61,0.57,0.62,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAD10",1,100,"同义",13203,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",80724,"12q24.12","NM_001136538"]
["32629A(745)v357",66,26,0.3939,"32629A","ACAD11","chr3:132277866","c.2292C>T(exon20)","p.I764I","rs2270801",0.089,0.11,0.11,0.12,0.1,0.098,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACAD11",1,150,"同义",13203,"0.3875=31/80","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169"]
["32629A(745)v358",164,93,0.5671,"32629A","ACAD11","chr3:132338346","c.1241A>C(exon10)","p.K414T","rs41272321",0.094,0.15,0.15,0.14,0.12,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACAD11",1,150,"非同义",12210,"0.5459=101/185","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169"]
["32629A(745)v359",176,176,1,"32629A","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,3,0,"ACAD11",1,150,"非同义",12230,"1.0000=194/194","位于基因组单拷贝区域+DNA结构正常",84129,"3q22.1","NM_032169"]
["32629A(745)v360",24,12,0.5,"32629A","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",1,110,"非编码区",2420,"0.5000=13/26","位于基因组单拷贝区域+简单重复结构",28976,"3q21.3","NM_014049"]
["32629A(745)v361",60,29,0.4833,"32629A","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,"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",1,110,"非编码区",16202,"0.4925=33/67","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"]
["32629A(745)v362",64,29,0.4531,"32629A","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",1,110,"同义",13203,"0.4583=33/72","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"]
["32629A(745)v363",64,28,0.4375,"32629A","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",1,110,"非编码区",16202,"0.4348=30/69","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"]
["32629A(745)v364",44,27,0.6136,"32629A","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",1,110,"同义",13203,"0.6304=29/46","位于基因组单拷贝区域+DNA结构正常",28976,"3q21.3","NM_014049"]
["32629A(745)v365",11,7,0.6364,"32629A","ACADM","chr1:76190216","c.-257G>A(exon1)","非编码区","rs17848068",0.2,0.012,0.014,0.0097,0.012,null,"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",201450,5,3,1,1,"ACADM",1,270,"非编码区",14200,"0.6667=8/12","位于基因组单拷贝区域+DNA结构正常",34,"1p31","NM_001127328"]
["32629A(745)v366",4,4,1,"32629A","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",610006,5,1,1,1,"ACADSB",1,180,"非编码区",14200,"1.0000=5/5","位于基因组多拷贝区域+DNA结构正常",36,"10q26.13","NM_001609"]
["32629A(745)v367",48,23,0.4792,"32629A","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",201470,5,3,5,1,"ACADS",1,47,"同义",13203,"0.4386=25/57","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"]
["32629A(745)v368",43,21,0.4884,"32629A","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",201470,5,3,5,1,"ACADS",1,47,"同义",13202,"0.4468=21/47","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"]
["32629A(745)v369",20,16,0.8,"32629A","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",201470,4,3,5,1,"ACADS",1,47,"同义",13303,"0.8000=16/20","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"]
["32629A(745)v370",8,4,0.5,"32629A","ACADS","chr12:121177366","c.*115G>A(exon10)","非编码区","rs2229534",0.075,0.29,0.29,0.3,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,5,3,5,1,"ACADS",1,47,"非编码区",14200,"0.5000=4/8","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017"]
["32629A(745)v371",4,2,0.5,"32629A","ACADS","chr12:121177456","c.*205C>T(exon10)","非编码区","rs548735871",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,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,3,3,5,1,"ACADS",1,47,"非编码区",14100,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",35,"12q24.31","NM_000017"]
["32629A(745)v372",13,5,0.3846,"32629A","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,"杂合","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",201475,3,3,3,1,"ACADVL",0.2,9.8,"非编码区",2430,"0.3846=5/13","位于基因组单拷贝区域+DNA结构正常",37,"17p13.1","NM_001270448"]
["32629A(745)v373",18,11,0.6111,"32629A","ACADVL","chr17:7123506","c.128G>A(exon2)","p.G43D","rs2230178",0.061,0.17,0.17,0.18,0.15,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20301763,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,5,3,3,1,"ACADVL",0.2,9.8,"非同义",12220,"0.6111=11/18","位于基因组单拷贝区域+DNA结构正常",37,"17p13.1","NM_000018",null,"GLY43ASP|Benign|OMIM:201475|NA|no assertion criteria provided|PubMed:20301763;rs2230178|Benign|OMIM:201475|NA|no assertion criteria provided|PubMed:20301763"]
["32629A(745)v374",72,37,0.5139,"32629A","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,"杂合","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",201475,5,3,3,1,"ACADVL",0.2,9.8,"非编码区",16201,"0.4253=37/87","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"]
["32629A(745)v375",84,84,1,"32629A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"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=97/97","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v375",84,84,1,"32629A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"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=97/97","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v375",84,84,1,"32629A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"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=97/97","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v376",29,29,1,"32629A","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=31/31","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v376",29,29,1,"32629A","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=31/31","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v376",29,29,1,"32629A","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=31/31","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v377",159,159,1,"32629A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"纯合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,8,3,"ACAN",1,120,"同义",13303,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v377",159,159,1,"32629A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"纯合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,8,3,"ACAN",1,120,"同义",13303,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v377",159,159,1,"32629A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"纯合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,1,8,3,"ACAN",1,120,"同义",13303,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v378",89,89,1,"32629A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"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,"非同义",12210,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v378",89,89,1,"32629A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"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,"非同义",12210,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v378",89,89,1,"32629A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"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,"非同义",12210,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v379",78,77,0.9872,"32629A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"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,"非同义",12220,"0.9878=81/82","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v379",78,77,0.9872,"32629A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"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,"非同义",12220,"0.9878=81/82","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v379",78,77,0.9872,"32629A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"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,"非同义",12220,"0.9878=81/82","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v380",52,51,0.9808,"32629A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"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,"0.9818=54/55","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v380",52,51,0.9808,"32629A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"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,"0.9818=54/55","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v380",52,51,0.9808,"32629A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"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,"0.9818=54/55","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v381",58,58,1,"32629A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"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,"非同义",12220,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v381",58,58,1,"32629A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"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,"非同义",12220,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v381",58,58,1,"32629A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"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,"非同义",12220,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v382",30,30,1,"32629A","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=33/33","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v382",30,30,1,"32629A","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=33/33","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v382",30,30,1,"32629A","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=33/33","位于基因组单拷贝区域+DNA结构正常",176,"15q26.1","NM_013227"]
["32629A(745)v383",11,10,0.9091,"32629A","ACAP1","chr17:7239911","c.-143A>G(exon1)","非编码区","rs3809827",0.4,0.33,0.32,0.34,0.3,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAP1",1,82,"非编码区",14200,"0.9167=11/12","位于基因组单拷贝区域+DNA结构正常",9744,"17p13.1","NM_014716"]
["32629A(745)v384",181,76,0.4199,"32629A","ACAP1","chr17:7254315","c.2119G>A(exon21)","p.A707T","rs35985803",0.043,0.031,0.043,0.019,0.022,0.034,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"ACAP1",1,82,"非同义",12120,"0.4155=86/207","位于基因组单拷贝区域+DNA结构正常",9744,"17p13.1","NM_014716"]
["32629A(745)v385",10,4,0.4,"32629A","ACAP2","chr3:194999846-194999846","c.*211(exon23)delA","非编码区","rs149109156",0.034,0.0096,0.0095,0.0097,null,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ACAP2",1,180,"非编码区",2410,"0.4545=5/11","位于基因组单拷贝区域+简单重复结构",23527,"3q29","NM_012287"]
["32629A(745)v386",79,79,1,"32629A","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",{"$nulls":4},5,null,2,0,"ACAP2",1,180,"非编码区",14200,"1.0000=101/101","位于基因组单拷贝区域+DNA结构正常",23527,"3q29","NM_012287"]
["32629A(745)v387",39,17,0.4359,"32629A","ACAP3","chr1:1233941","c.863+6A>G(exon11)","非编码区","rs1739855",0.5,0.75,0.8,0.7,0.7,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACAP3",1,34,"非编码区",16202,"0.4524=19/42","位于基因组单拷贝区域+DNA结构正常",116983,"-","NM_030649"]
["32629A(745)v388",14,7,0.5,"32629A","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",1,190,"非编码区",14200,"0.4375=7/16","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"]
["32629A(745)v389",14,6,0.4286,"32629A","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",1,190,"非同义",12220,"0.3529=6/17","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"]
["32629A(745)v390",86,53,0.6163,"32629A","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",{"$nulls":4},5,null,1,0,"ACBD3",1,95,"非同义",12220,"0.6087=56/92","位于基因组单拷贝区域+DNA结构正常",64746,"1q42.12","NM_022735"]
["32629A(745)v391",2,2,1,"32629A","ACBD5","chr10:27484746","c.*1613A>G(exon12)","非编码区","rs788231",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512"]
["32629A(745)v392",105,51,0.4857,"32629A","ACBD5","chr10:27508746","c.525C>T(exon5)","p.T175T","rs12572325",0.069,0.12,0.09,0.16,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"同义",13203,"0.4622=55/119","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512"]
["32629A(745)v393",96,48,0.5,"32629A","ACBD5","chr10:27508758","c.513A>G(exon5)","p.P171P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"同义",13203,"0.5185=56/108","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512"]
["32629A(745)v394",62,62,1,"32629A","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",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"非编码区",14200,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512"]
["32629A(745)v395",61,61,1,"32629A","ACBD5","chr10:27529565","c.-143A>G(exon1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"非编码区",14200,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",91452,"10p12.1","NM_001271512"]
["32629A(745)v396",2,2,1,"32629A","ACBD7","chr10:15120038","c.*491A>G(exon4)","非编码区","rs10796256",0.51,0.59,0.56,0.61,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACBD7",1,160,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",414149,"10p13","NM_001039844"]
["32629A(745)v397",62,34,0.5484,"32629A","ACCSL","chr11:44080210","c.1585T>C(exon13)","p.C529R","rs2074051",0.79,0.87,0.87,0.88,0.89,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACCSL",1,98,"非同义",12220,"0.5303=35/66","位于基因组单拷贝区域+DNA结构正常",390110,"11p11.2","NM_001031854"]
["32629A(745)v398",56,24,0.4286,"32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACCS",1,81,"非编码区",16202,"0.4310=25/58","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_032592"]
["32629A(745)v399",82,82,1,"32629A","ACCS","chr11:44096238","c.489+7G>A(exon5)","非编码区","rs178521",0.77,0.94,0.95,0.94,0.95,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACCS",1,81,"非编码区",16203,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_032592"]
["32629A(745)v400",56,56,1,"32629A","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",{"$nulls":4},4,null,3,0,"ACCS",1,81,"非编码区",2500,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",84680,"11p11","NM_032592"]
["32629A(745)v401",285,285,1,"32629A","ACE2","chrX:15610348","c.439+4G>A(exon4)","非编码区","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"纯合","未知","剪切位点预测结果为无害","18560893;19684612;20125035;21490025;24926374",{"$nulls":3},4,null,1,0,"ACE2",1,210,"非编码区",16302,"1.0000=328/328","位于基因组单拷贝区域+DNA结构正常",59272,"Xp22","NM_021804"]
["32629A(745)v402",46,16,0.3478,"32629A","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",{"$nulls":4},5,null,1,0,"ACER1",1,61,"非同义",12220,"0.3396=18/53","位于基因组单拷贝区域+DNA结构正常",125981,"19p13.3","NM_133492"]
["32629A(745)v403",27,13,0.4815,"32629A","ACER2","chr9:19409206","c.108+16G>C(exon1)","非编码区","rs11792865",0.14,0.14,0.14,0.13,0.14,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACER2",1,87,"非编码区",16203,"0.5000=14/28","位于基因组多拷贝区域+DNA结构正常",340485,"9p22.1","NM_001010887"]
["32629A(745)v404",11,7,0.6364,"32629A","ACER2","chr9:19450755","c.*121T>C(exon6)","非编码区","rs143913336",0.017,0.065,0.062,0.068,0.075,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ACER2",1,87,"非编码区",14100,"0.6667=8/12","位于基因组多拷贝区域+DNA结构正常",340485,"9p22.1","NM_001010887"]
["32629A(745)v405",213,74,0.3474,"32629A","ACER3","chr11:76637651","c.154G>A(exon2)","p.V52I","rs4379869",0.63,0.6,0.57,0.63,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACER3",1,170,"非同义",12220,"0.3473=83/239","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367"]
["32629A(745)v406",219,83,0.379,"32629A","ACER3","chr11:76637680","c.183G>A(exon2)","p.K61K","rs4479014",0.5,0.6,0.57,0.63,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACER3",1,170,"同义",13203,"0.3846=95/247","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367"]
["32629A(745)v407",147,63,0.4286,"32629A","ACER3","chr11:76637730","c.214+19C>G(exon2)","非编码区","rs4604914",0.5,0.6,0.57,0.63,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACER3",1,170,"非编码区",16203,"0.4337=72/166","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367"]
["32629A(745)v408",98,43,0.4388,"32629A","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",{"$nulls":4},5,null,5,0,"ACER3",1,170,"非编码区",16203,"0.4393=47/107","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367"]
["32629A(745)v409",179,88,0.4916,"32629A","ACER3","chr11:76701606","c.426G>A(exon6)","p.P142P","rs3740767",0.53,0.66,0.64,0.67,0.67,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19586928,{"$nulls":3},5,null,5,0,"ACER3",1,170,"同义",13203,"0.4778=97/203","位于基因组单拷贝区域+DNA结构正常",55331,"11q13.5","NM_018367"]
["32629A(745)v410",74,43,0.5811,"32629A","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",104300,5,1,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v410",74,43,0.5811,"32629A","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",267430,5,3,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v410",74,43,0.5811,"32629A","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,608446,5,2,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v410",74,43,0.5811,"32629A","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,612624,5,2,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v410",74,43,0.5811,"32629A","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,614519,5,2,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v411",47,8,0.1702,"32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"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",104300,4,1,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v411",47,8,0.1702,"32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"肾小管发育不良","AR",267430,4,3,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v411",47,8,0.1702,"32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"心肌梗塞,易感1型",null,608446,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v411",47,8,0.1702,"32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"糖尿病微血管并发症,易感3型",null,612624,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v411",47,8,0.1702,"32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"脑出血、中风（易感）",null,614519,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v412",48,8,0.1667,"32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"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",104300,4,1,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v412",48,8,0.1667,"32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"肾小管发育不良","AR",267430,4,3,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v412",48,8,0.1667,"32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"心肌梗塞,易感1型",null,608446,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v412",48,8,0.1667,"32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"糖尿病微血管并发症,易感3型",null,612624,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v412",48,8,0.1667,"32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"脑出血、中风（易感）",null,614519,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v413",89,42,0.4719,"32629A","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",104300,5,1,10,5,"ACE",1,65,"同义",13203,"0.4639=45/97","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32629A(745)v413",89,42,0.4719,"32629A","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",267430,5,3,10,5,"ACE",1,65,"同义",13203,"0.4639=45/97","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32629A(745)v413",89,42,0.4719,"32629A","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,608446,5,2,10,5,"ACE",1,65,"同义",13203,"0.4639=45/97","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32629A(745)v413",89,42,0.4719,"32629A","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,612624,5,2,10,5,"ACE",1,65,"同义",13203,"0.4639=45/97","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32629A(745)v413",89,42,0.4719,"32629A","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,614519,5,2,10,5,"ACE",1,65,"同义",13203,"0.4639=45/97","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_001178057"]
["32629A(745)v414",64,27,0.4219,"32629A","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",104300,5,1,10,5,"ACE",1,65,"同义",13203,"0.4242=28/66","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v414",64,27,0.4219,"32629A","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",267430,5,3,10,5,"ACE",1,65,"同义",13203,"0.4242=28/66","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v414",64,27,0.4219,"32629A","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,608446,5,2,10,5,"ACE",1,65,"同义",13203,"0.4242=28/66","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v414",64,27,0.4219,"32629A","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,612624,5,2,10,5,"ACE",1,65,"同义",13203,"0.4242=28/66","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v414",64,27,0.4219,"32629A","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,614519,5,2,10,5,"ACE",1,65,"同义",13203,"0.4242=28/66","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v415",69,28,0.4058,"32629A","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",104300,5,1,10,5,"ACE",1,65,"非编码区",16202,"0.4177=33/79","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v415",69,28,0.4058,"32629A","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",267430,5,3,10,5,"ACE",1,65,"非编码区",16202,"0.4177=33/79","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v415",69,28,0.4058,"32629A","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,608446,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.4177=33/79","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v415",69,28,0.4058,"32629A","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,612624,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.4177=33/79","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v415",69,28,0.4058,"32629A","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,614519,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.4177=33/79","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v416",72,30,0.4167,"32629A","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",104300,5,1,10,5,"ACE",1,65,"非编码区",16202,"0.4268=35/82","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v416",72,30,0.4167,"32629A","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",267430,5,3,10,5,"ACE",1,65,"非编码区",16202,"0.4268=35/82","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v416",72,30,0.4167,"32629A","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,608446,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.4268=35/82","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v416",72,30,0.4167,"32629A","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,612624,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.4268=35/82","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v416",72,30,0.4167,"32629A","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,614519,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.4268=35/82","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v417",85,41,0.4824,"32629A","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",104300,5,1,10,5,"ACE",1,65,"同义",13203,"0.4842=46/95","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v417",85,41,0.4824,"32629A","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",267430,5,3,10,5,"ACE",1,65,"同义",13203,"0.4842=46/95","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v417",85,41,0.4824,"32629A","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,608446,5,2,10,5,"ACE",1,65,"同义",13203,"0.4842=46/95","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v417",85,41,0.4824,"32629A","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,612624,5,2,10,5,"ACE",1,65,"同义",13203,"0.4842=46/95","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v417",85,41,0.4824,"32629A","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,614519,5,2,10,5,"ACE",1,65,"同义",13203,"0.4842=46/95","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v418",39,20,0.5128,"32629A","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",104300,5,1,10,5,"ACE",1,65,"同义",13203,"0.4783=22/46","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v418",39,20,0.5128,"32629A","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",267430,5,3,10,5,"ACE",1,65,"同义",13203,"0.4783=22/46","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v418",39,20,0.5128,"32629A","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,608446,5,2,10,5,"ACE",1,65,"同义",13203,"0.4783=22/46","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v418",39,20,0.5128,"32629A","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,612624,5,2,10,5,"ACE",1,65,"同义",13203,"0.4783=22/46","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v418",39,20,0.5128,"32629A","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,614519,5,2,10,5,"ACE",1,65,"同义",13203,"0.4783=22/46","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v419",23,8,0.3478,"32629A","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",104300,5,1,10,5,"ACE",1,65,"非编码区",16202,"0.3600=9/25","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v419",23,8,0.3478,"32629A","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",267430,5,3,10,5,"ACE",1,65,"非编码区",16202,"0.3600=9/25","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v419",23,8,0.3478,"32629A","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,608446,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.3600=9/25","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v419",23,8,0.3478,"32629A","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,612624,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.3600=9/25","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v419",23,8,0.3478,"32629A","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,614519,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.3600=9/25","位于基因组单拷贝区域+DNA结构正常",1636,"17q23.3","NM_000789"]
["32629A(745)v420",51,31,0.6078,"32629A","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",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"同义",13203,"0.6441=38/59","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v421",18,15,0.8333,"32629A","ACIN1","chr14:23538837","c.2298-11C>A(exon9)","非编码区","rs375019690",{"$nulls":4},0.0012,0.00083,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,10,0,"ACIN1",1,77,"非编码区",16301,"0.8636=19/22","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v422",47,47,1,"32629A","ACIN1","chr14:23548783-23548784","c.1934(exon6)_c.1935(exon6)insACGTTC","p.S645delinsSRS","rs148403158",0.39,0.43,0.45,0.41,0.19,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非移码",2223,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v423",62,29,0.4677,"32629A","ACIN1","chr14:23549285","c.1433C>T(exon6)","p.S478F","rs3751501",0.052,0.13,0.13,0.12,0.11,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19139070,{"$nulls":3},5,null,10,0,"ACIN1",1,77,"非同义",12220,"0.4328=29/67","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v424",63,30,0.4762,"32629A","ACIN1","chr14:23549319","c.1399T>C(exon6)","p.S467P","rs1885097",0.43,0.39,0.4,0.38,0.37,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非同义",12220,"0.4493=31/69","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v425",55,55,1,"32629A","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",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非同义",12230,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v426",55,25,0.4545,"32629A","ACIN1","chr14:23549383","c.1335C>A(exon6)","p.A445A","rs45510791",0.052,0.13,0.13,0.12,0.11,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"同义",13203,"0.4516=28/62","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v427",78,78,1,"32629A","ACIN1","chr14:23549785","c.933A>G(exon6)","p.I311M","rs3811182",0.5,0.46,0.49,0.44,0.42,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非同义",12220,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v428",38,38,1,"32629A","ACIN1","chr14:23549879-23549881","c.837(exon6)_c.839(exon6)delGGA","p.E279_E280delinsE","rs3841035",0.11,0.2,0.21,0.18,0.0089,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非移码",2222,"1.0000=42/42","位于基因组单拷贝区域+简单重复结构",22985,"14q11.2","NM_014977"]
["32629A(745)v429",2,2,1,"32629A","ACIN1","chr14:23564766","c.-271G>C(exon1)","非编码区","rs17126531",0.07,0.13,0.14,0.12,0.091,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",22985,"14q11.2","NM_014977"]
["32629A(745)v430",66,66,1,"32629A","ACLY","chr17:40024023","c.*40T>A(exon29)","非编码区","rs7217218",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,89,"非编码区",14200,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096"]
["32629A(745)v431",108,108,1,"32629A","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",{"$nulls":4},5,null,4,0,"ACLY",1,89,"非编码区",16203,"1.0000=116/116","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096"]
["32629A(745)v432",35,35,1,"32629A","ACLY","chr17:40028450","c.2643-15T>A(exon24)","非编码区","rs8071627",0.78,0.82,0.85,0.79,0.83,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,89,"非编码区",16201,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096"]
["32629A(745)v433",99,99,1,"32629A","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",{"$nulls":4},5,null,4,0,"ACLY",1,89,"同义",13203,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",47,"17q21.2","NM_001096"]
["32629A(745)v434",8,5,0.625,"32629A","ACN9","chr7:96810729","c.*202G>A(exon2)","非编码区","rs13475",0.56,0.52,0.51,0.52,0.53,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18163977,{"$nulls":3},5,null,1,0,"ACN9",1,190,"非编码区",14200,"0.6250=5/8","位于基因组单拷贝区域+DNA结构正常",57001,"7q21.3","NM_020186"]
["32629A(745)v435",84,39,0.4643,"32629A","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",{"$nulls":3},5,null,2,0,"ACO1",1,160,"同义",13203,"0.5102=50/98","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197"]
["32629A(745)v436",28,11,0.3929,"32629A","ACO1","chr9:32450187","c.*78T>C(exon21)","非编码区","rs12985",0.4,0.54,0.53,0.54,0.54,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18755042,{"$nulls":3},5,null,2,0,"ACO1",1,160,"非编码区",14200,"0.3750=12/32","位于基因组单拷贝区域+DNA结构正常",48,"9p21.1","NM_002197"]
["32629A(745)v437",53,30,0.566,"32629A","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",614559,5,3,3,1,"ACO2",1,73,"同义",13203,"0.5263=30/57","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"]
["32629A(745)v438",50,30,0.6,"32629A","ACO2","chr22:41911525","c.670C>T(exon5)","p.L224L","rs1799932",0.27,0.16,0.14,0.18,0.21,0.19,"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",614559,5,3,3,1,"ACO2",1,73,"同义",13203,"0.5714=32/56","位于基因组多拷贝区域+DNA结构正常",50,"22q13.2","NM_001098",null,"rs1799932|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v439",56,24,0.4286,"32629A","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",614559,5,3,3,1,"ACO2",1,73,"非编码区",16203,"0.4098=25/61","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"]
["32629A(745)v440",53,29,0.5472,"32629A","ACOT11","chr1:55060224","c.472-5G>A(exon6)","非编码区","rs1755591",0.2,0.16,0.16,0.16,0.17,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",16202,"0.4915=29/59","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161"]
["32629A(745)v441",39,21,0.5385,"32629A","ACOT11","chr1:55060362","c.605G>A(exon6)","p.G202D","rs1702003",0.26,0.16,0.16,0.16,0.17,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15986317;16255080;19737746",{"$nulls":3},5,null,4,0,"ACOT11",1,65,"非同义",12220,"0.4884=21/43","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161"]
["32629A(745)v442",61,29,0.4754,"32629A","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",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",14200,"0.4412=30/68","位于基因组多拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161"]
["32629A(745)v443",22,10,0.4545,"32629A","ACOT11","chr1:55075993","c.*1208G>A(exon16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,0.2,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",14200,"0.4000=10/25","位于基因组单拷贝区域+DNA结构正常",26027,"1p32.3","NM_147161"]
["32629A(745)v444",23,23,1,"32629A","ACOT13","chr6:24667323","c.-527C>T(exon1)","非编码区","rs17243157",0.11,0.062,0.048,0.078,0.098,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOT13",1,180,"非编码区",14200,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094"]
["32629A(745)v445",104,104,1,"32629A","ACOT13","chr6:24687765","c.-145A>G(exon2)","非编码区","rs926529",0.8,0.87,0.88,0.85,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15514892;15717286",{"$nulls":3},5,null,2,0,"ACOT13",1,180,"非编码区",14200,"1.0000=118/118","位于基因组单拷贝区域+DNA结构正常",55856,"6p22.3","NM_001160094"]
["32629A(745)v446",4,4,1,"32629A","ACOT1","chr14:74004595","c.457+13C>T(exon1)","非编码区","rs72738342",0.37,0.17,0.2,0.14,0.51,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACOT1",1,100,"非编码区",16203,"1.0000=4/4","位于基因组多拷贝区域+DNA结构正常",641371,"14q24.3","NM_001037161"]
["32629A(745)v447",44,13,0.2955,"32629A","ACOT2","chr14:74035960","c.16C>T(exon1)","p.L6F","rs200541919",0.0004,0.0048,0.0048,0.0049,0.0042,0.0037,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"ACOT2",1,87,"非同义",12120,"0.2979=14/47","位于基因组单拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821"]
["32629A(745)v448",35,35,1,"32629A","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,3,0,"ACOT2",1,87,"非同义",12310,"1.0000=38/38","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821"]
["32629A(745)v449",38,31,0.8158,"32629A","ACOT2","chr14:74042189","c.1424A>G(exon3)","p.H475R","rs7494",{"$nulls":4},0.78,0.8,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"ACOT2",1,87,"非同义",12320,"0.8333=35/42","位于基因组多拷贝区域+DNA结构正常",10965,"14q24.3","NM_006821"]
["32629A(745)v450",15,5,0.3333,"32629A","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",{"$nulls":4},5,null,2,0,"ACOT4",1,83,"非同义",12220,"0.3125=5/16","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331"]
["32629A(745)v451",92,92,1,"32629A","ACOT4","chr14:74061968","c.876T>C(exon3)","p.I292I","rs2010070",0.86,0.94,0.95,0.94,0.93,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOT4",1,83,"同义",13203,"1.0000=100/100","位于基因组多拷贝区域+DNA结构正常",122970,"14q24.3","NM_152331"]
["32629A(745)v452",80,80,1,"32629A","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",{"$nulls":4},5,null,1,0,"ACOT6",1,88,"非编码区",14200,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",641372,"14q24.3","NM_001037162"]
["32629A(745)v453",64,64,1,"32629A","ACOX1","chr17:73949540","c.822C>G(exon7)","p.I274M","rs1135640",0.55,0.79,0.82,0.77,0.78,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,5,1,1,1,"ACOX1",1,120,"非同义",12220,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",51,"17q25.1","NM_001185039"]
["32629A(745)v454",50,25,0.5,"32629A","ACOX2","chr3:58512237","c.1302T>C(exon10)","p.C434C","rs1127745",0.28,0.23,0.25,0.21,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,96,"同义",13203,"0.4032=25/62","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500"]
["32629A(745)v455",35,18,0.5143,"32629A","ACOX2","chr3:58512375","c.1164A>G(exon10)","p.A388A","rs1127743",0.16,0.24,0.26,0.22,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,96,"同义",13203,"0.4865=18/37","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500"]
["32629A(745)v456",75,75,1,"32629A","ACOX2","chr3:58516383","c.820-18C>T(exon8)","非编码区","rs4387990",0.22,0.077,0.081,0.073,0.12,0.11,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,96,"非编码区",16202,"1.0000=81/81","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500"]
["32629A(745)v457",51,51,1,"32629A","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",{"$nulls":4},5,null,4,0,"ACOX2",1,96,"非编码区",14200,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",8309,"3p14.3","NM_003500"]
["32629A(745)v458",8,5,0.625,"32629A","ACOX3","chr4:8368433","c.*255C>T(exon18)","非编码区","rs7809",0.26,0.31,0.32,0.31,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACOX3",1,94,"非编码区",14200,"0.6250=5/8","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_003501"]
["32629A(745)v459",47,23,0.4894,"32629A","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",{"$nulls":4},5,null,3,0,"ACOX3",1,94,"非编码区",14200,"0.5192=27/52","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_003501"]
["32629A(745)v460",68,37,0.5441,"32629A","ACOX3","chr4:8375342","c.1842C>T(exon16)","p.S614S","rs2280571",0.14,0.14,0.13,0.16,0.15,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACOX3",1,94,"同义",13203,"0.5526=42/76","位于基因组单拷贝区域+DNA结构正常",8310,"4p15.3","NM_003501"]
["32629A(745)v461",123,74,0.6016,"32629A","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",{"$nulls":4},5,null,2,0,"ACOXL",1,140,"非同义",12210,"0.6111=88/144","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807"]
["32629A(745)v462",197,88,0.4467,"32629A","ACOXL","chr2:111850515","c.1514C>T(exon17)","p.P505L","rs17041850",0.074,0.26,0.3,0.22,0.25,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOXL",1,140,"非同义",12210,"0.4410=101/229","位于基因组单拷贝区域+DNA结构正常",55289,"2q13","NM_001142807"]
["32629A(745)v463",41,41,1,"32629A","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",{"$nulls":4},5,null,3,0,"ACP1",1,140,"非编码区",14200,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_004300"]
["32629A(745)v464",63,33,0.5238,"32629A","ACP1","chr2:272203","c.284C>T(exon3)","p.T95I","rs11553746",0.24,0.24,0.24,0.24,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20011102,{"$nulls":3},5,null,3,0,"ACP1",1,140,"非同义",12220,"0.5143=36/70","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_001040649"]
["32629A(745)v465",247,109,0.4413,"32629A","ACP1","chr2:277003","c.317A>G(exon5)","p.Q106R","rs79716074",0.26,0.24,0.24,0.24,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",1627603,{"$nulls":3},5,null,3,0,"ACP1",1,140,"非同义",12210,"0.4096=120/293","位于基因组单拷贝区域+DNA结构正常",52,"2p25","NM_004300",null,"GLN106ARG|Benign|NA|OMIM:171500.0001|no assertion criteria provided|PubMed:1627603"]
["32629A(745)v466",61,61,1,"32629A","ACP2","chr11:47270255","c.86G>A(exon1)","p.R29Q","rs2167079",0.52,0.75,0.79,0.71,0.72,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17357082;19060910","酸性磷酸酶缺乏症","AR",200950,5,1,1,1,"ACP2",1,76,"非同义",12220,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",53,"11p11.2|11p12-p11","NM_001610"]
["32629A(745)v467",3,3,1,"32629A","ACP5","chr19:11688460","c.-53A>G(exon3)","非编码区","rs2071484",0.51,0.56,0.57,0.55,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脊柱软骨发育不全伴免疫失调","AD,AR",607944,5,1,1,1,"ACP5",1,69,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",54,"19p13.3-p13.2","NM_001111035"]
["32629A(745)v468",99,54,0.5455,"32629A","ACP6","chr1:147119273","c.1239C>T(exon10)","p.H413H","rs1344",0.48,0.39,0.43,0.34,0.32,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACP6",1,110,"同义",13203,"0.5093=55/108","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32629A(745)v469",90,90,1,"32629A","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",{"$nulls":4},5,null,5,0,"ACP6",1,110,"非同义",12220,"1.0000=95/95","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32629A(745)v470",43,42,0.9767,"32629A","ACP6","chr1:147124310","c.823A>C(exon7)","p.R275R","rs2153463",{"$nulls":4},0.7,0.71,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ACP6",1,110,"同义",13303,"0.9778=44/45","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32629A(745)v471",135,63,0.4667,"32629A","ACP6","chr1:147131501","c.479+10T>A(exon3)","非编码区","rs34675044",0.26,0.099,0.11,0.087,0.095,0.094,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACP6",1,110,"非编码区",16203,"0.4437=67/151","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32629A(745)v472",6,2,0.3333,"32629A","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",{"$nulls":4},5,null,5,0,"ACP6",1,110,"非编码区",14200,"0.3333=2/6","位于基因组单拷贝区域+DNA结构正常",51205,"1q21","NM_016361"]
["32629A(745)v473",83,47,0.5663,"32629A","ACPL2","chr3:140998214","c.239-6G>A(exon6)","非编码区","rs13087169",0.57,0.52,0.5,0.53,0.54,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACPL2",1,94,"非编码区",16202,"0.5647=48/85","位于基因组单拷贝区域+DNA结构正常",92370,"3q23","NM_152282"]
["32629A(745)v474",38,12,0.3158,"32629A","ACPL2","chr3:141011630","c.1026C>T(exon8)","p.F342F","rs3210458",0.1,0.13,0.11,0.14,0.1,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACPL2",1,94,"同义",13203,"0.3077=12/39","位于基因组单拷贝区域+DNA结构正常",92370,"3q23","NM_152282"]
["32629A(745)v475",103,54,0.5243,"32629A","ACPP","chr3:132051116","c.384T>C(exon4)","p.G128G","rs144823139",3.8E-3,0.022,0.019,0.024,0.021,0.022,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACPP",1,150,"同义",13103,"0.5315=59/111","位于基因组单拷贝区域+DNA结构正常",55,"3q22.1","NM_001099"]
["32629A(745)v476",17,17,1,"32629A","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",{"$nulls":4},5,null,2,0,"ACPP",1,150,"非编码区",14200,"1.0000=19/19","位于基因组单拷贝区域+DNA结构正常",55,"3q22.1","NM_001134194"]
["32629A(745)v477",58,58,1,"32629A","ACPT","chr19:51297825","c.973G>A(exon9)","p.A325T","rs55716643",0.33,0.68,0.67,0.68,0.65,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACPT",1,51,"非同义",12220,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068"]
["32629A(745)v478",58,58,1,"32629A","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",{"$nulls":4},5,null,2,0,"ACPT",1,51,"非同义",12220,"1.0000=63/63","位于基因组单拷贝区域+DNA结构正常",93650,"19q13.4","NM_033068"]
["32629A(745)v479",16,16,1,"32629A","ACRBP","chr12:6747295","c.*153C>T(exon10)","非编码区","rs1045553",0.64,0.59,0.59,0.58,0.61,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16251468,{"$nulls":3},5,null,2,0,"ACRBP",1,81,"非编码区",14200,"1.0000=17/17","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489"]
["32629A(745)v480",33,33,1,"32629A","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",{"$nulls":4},5,null,2,0,"ACRBP",1,81,"非编码区",16202,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",84519,"12p13.31","NM_032489"]
["32629A(745)v481",123,57,0.4634,"32629A","ACRC","chrX:70832741","c.1985C>T(exon13)","p.T662I","rs2280962",null,0.072,0.082,0.062,0.075,0.056,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"ACRC",1,260,"非同义",12310,"0.4400=66/150","位于基因组单拷贝区域+DNA结构正常",93953,"Xq13.1","NM_052957"]
["32629A(745)v482",78,78,1,"32629A","ACR","chr22:51182485","c.566-4A>G(exon4)","非编码区","rs6009961",0.64,0.4,0.39,0.42,0.42,0.41,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACR",1,81,"非编码区",16202,"1.0000=86/86","位于基因组多拷贝区域+DNA结构正常",49,"22q13.33","NM_001097"]
["32629A(745)v483",67,67,1,"32629A","ACR","chr22:51183255","c.886A>G(exon5)","p.M296V","rs5771002",0.73,0.82,0.8,0.84,0.76,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACR",1,81,"非同义",12220,"1.0000=76/76","位于基因组多拷贝区域+DNA结构正常",49,"22q13.33","NM_001097"]
["32629A(745)v484",69,69,1,"32629A","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",{"$nulls":4},5,null,2,0,"ACSBG2",1,120,"非编码区",16202,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",81616,"19p13.3","NM_030924"]
["32629A(745)v485",93,93,1,"32629A","ACSBG2","chr19:6156483","c.428T>C(exon5)","p.V143A","rs4807840",0.71,0.72,0.75,0.69,0.69,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSBG2",1,120,"非同义",12220,"1.0000=106/106","位于基因组单拷贝区域+DNA结构正常",81616,"19p13.3","NM_030924"]
["32629A(745)v486",34,16,0.4706,"32629A","ACSF3","chr16:89167140","c.51G>C(exon3)","p.A17A","rs7201122",0.85,0.7,0.68,0.72,0.66,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","联合丙二酸和甲基丙二酸尿症",null,614265,5,2,4,1,"ACSF3",1,74,"同义",13203,"0.4103=16/39","位于基因组单拷贝区域+DNA结构正常",197322,"16q24.3","NM_001243279",null,"rs7201122|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v487",51,29,0.5686,"32629A","ACSF3","chr16:89180765","c.996A>T(exon6)","p.S332S","rs75591977",0.05,0.13,0.13,0.13,0.1,0.13,"杂合","未知","预测范围之外的同义突变",null,"联合丙二酸和甲基丙二酸尿症",null,614265,4,2,4,1,"ACSF3",1,74,"同义",13103,"0.5909=39/66","位于基因组单拷贝区域+DNA结构正常",197322,"16q24.3","NM_001243279"]
["32629A(745)v488",44,29,0.6591,"32629A","ACSF3","chr16:89180883","c.1114G>A(exon6)","p.V372M","rs3743979",0.63,0.46,0.4,0.51,0.46,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19875614,"联合丙二酸和甲基丙二酸尿症",null,614265,5,2,4,1,"ACSF3",1,74,"非同义",12220,"0.6481=35/54","位于基因组单拷贝区域+DNA结构正常",197322,"16q24.3","NM_001243279"]
["32629A(745)v489",144,74,0.5139,"32629A","ACSF3","chr16:89211662","c.1367-13C>G(exon9)","非编码区","rs140859425",0.055,0.12,0.12,0.13,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","联合丙二酸和甲基丙二酸尿症",null,614265,5,2,4,1,"ACSF3",1,74,"非编码区",16202,"0.5223=82/157","位于基因组单拷贝区域+DNA结构正常",197322,"16q24.3","NM_001243279",null,"rs140859425|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v490",21,12,0.5714,"32629A","ACSL1","chr4:185678110","c.*169T>C(exon21)","非编码区","rs2292899",0.4,0.65,0.66,0.64,0.64,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23303383,{"$nulls":3},5,null,4,0,"ACSL1",1,130,"非编码区",14200,"0.5217=12/23","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995","rs2292899|\"Diabetes_mellitus_type_2_association_with\"|23303383"]
["32629A(745)v491",21,21,1,"32629A","ACSL1","chr4:185678118","c.*161G>C(exon21)","非编码区","rs4862413",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACSL1",1,130,"非编码区",14200,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995"]
["32629A(745)v492",79,79,1,"32629A","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",{"$nulls":4},5,null,4,0,"ACSL1",1,130,"同义",13203,"1.0000=91/91","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995"]
["32629A(745)v493",39,21,0.5385,"32629A","ACSL1","chr4:185687863","c.1176T>C(exon13)","p.F392F","rs11727009",0.21,0.24,0.23,0.25,0.24,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACSL1",1,130,"同义",13203,"0.5476=23/42","位于基因组单拷贝区域+DNA结构正常",2180,"4q35","NM_001995"]
["32629A(745)v494",100,42,0.42,"32629A","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",{"$nulls":4},5,null,3,0,"ACSL3",1,230,"非编码区",16202,"0.3945=43/109","位于基因组单拷贝区域+DNA结构正常",2181,"2q34-q35","NM_004457"]
["32629A(745)v495",80,79,0.9875,"32629A","ACSL3","chr2:223787559","c.1080+10G>A(exon9)","非编码区","rs11891410",0.9,0.96,0.96,0.96,0.96,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACSL3",1,230,"非编码区",16203,"0.9900=99/100","位于基因组单拷贝区域+DNA结构正常",2181,"2q34-q35","NM_004457"]
["32629A(745)v496",2,2,1,"32629A","ACSL3","chr2:223807630-223807631","c.*1258(exon17)_c.*1259(exon17)insAGTA","非编码区","rs10623105",null,0.96,0.96,0.96,null,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"ACSL3",1,230,"非编码区",2430,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",2181,"2q34-q35","NM_004457"]
["32629A(745)v497",167,167,1,"32629A","ACSL5","chr10:114186624","c.1911+7G>A(exon20)","非编码区","rs2256368",0.96,0.99,0.99,1,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSL5",1,140,"非编码区",16203,"1.0000=190/190","位于基因组单拷贝区域+DNA结构正常",51703,"10q25.1-q25.2","NM_203380"]
["32629A(745)v498",73,73,1,"32629A","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",{"$nulls":4},5,null,1,0,"ACSL6",1,98,"非编码区",16203,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",23305,"5q31","NM_015256"]
["32629A(745)v499",59,33,0.5593,"32629A","ACSM1","chr16:20634775","c.*33A>G(exon13)","非编码区","rs3087812",0.35,0.37,0.37,0.36,0.38,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"非编码区",14200,"0.5303=35/66","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956"]
["32629A(745)v500",109,54,0.4954,"32629A","ACSM1","chr16:20635418","c.1647G>A(exon12)","p.K549K","rs3743690",0.18,0.5,0.46,0.53,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"剪切位点",13201,"0.4821=54/112","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956"]
["32629A(745)v501",49,17,0.3469,"32629A","ACSM1","chr16:20636814","c.1458C>T(exon11)","p.S486S","rs2301672",0.18,0.5,0.46,0.53,0.47,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"同义",13203,"0.3269=17/52","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956"]
["32629A(745)v502",106,106,1,"32629A","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",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"同义",13203,"1.0000=120/120","位于基因组多拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956"]
["32629A(745)v503",148,71,0.4797,"32629A","ACSM1","chr16:20648702","c.1188C>T(exon8)","p.Y396Y","rs151328",0.35,0.37,0.38,0.35,0.38,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"同义",13203,"0.5063=80/158","位于基因组单拷贝区域+DNA结构正常",116285,"16p12.3","NM_052956"]
["32629A(745)v504",137,62,0.4526,"32629A","ACSM2A","chr16:20471450","c.14G>A(exon3)","p.R5Q","rs59292608",0.17,0.36,0.34,0.38,0.38,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM2A",1,240,"非同义",12220,"0.4408=67/152","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32629A(745)v505",192,173,0.901,"32629A","ACSM2A","chr16:20476852","c.191T>C(exon4)","p.L64P","rs7187246",0.51,0.73,0.68,0.78,0.6,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM2A",1,240,"非同义",12220,"0.8889=192/216","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32629A(745)v506",224,107,0.4777,"32629A","ACSM2A","chr16:20477004","c.343C>T(exon4)","p.R115X,463","rs59261767",0.046,0.21,0.18,0.25,0.17,0.2,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,5,0,"ACSM2A",1,240,"截断",15100,"0.4798=119/248","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32629A(745)v507",147,147,1,"32629A","ACSM2A","chr16:20480818","c.389-16T>C(exon5)","非编码区","rs28615302",0.48,0.74,0.68,0.81,0.76,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM2A",1,240,"非编码区",16202,"1.0000=160/160","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32629A(745)v508",119,59,0.4958,"32629A","ACSM2A","chr16:20498079","c.*79T>G(exon15)","非编码区","rs2072080",0.79,0.6,0.63,0.57,0.59,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM2A",1,240,"非编码区",14200,"0.5180=72/139","位于基因组多拷贝区域+DNA结构正常",123876,"16p12.3","NM_001010845"]
["32629A(745)v509",7,2,0.2857,"32629A","ACSM2B","chr16:20548280","c.*300C>T(exon15)","非编码区","rs11645661",0.095,0.2,0.18,0.22,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"非编码区",14200,"0.2857=2/7","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32629A(745)v510",20,11,0.55,"32629A","ACSM2B","chr16:20548334","c.*246G>A(exon15)","非编码区","rs7404298",0.81,0.67,0.72,0.62,0.63,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"非编码区",14200,"0.5455=12/22","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32629A(745)v511",170,78,0.4588,"32629A","ACSM2B","chr16:20552075","c.1530C>A(exon14)","p.I510I","rs16970280",0.71,0.47,0.49,0.46,0.47,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"同义",13203,"0.4516=84/186","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32629A(745)v512",200,108,0.54,"32629A","ACSM2B","chr16:20554248","c.1497C>T(exon13)","p.P499P","rs140717461",0.099,0.17,0.14,0.2,0.16,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"同义",13203,"0.5346=116/217","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32629A(745)v513",224,109,0.4866,"32629A","ACSM2B","chr16:20563528","c.832A>G(exon7)","p.T278A","rs77863699",0.15,0.17,0.14,0.2,0.16,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"非同义",12220,"0.4840=121/250","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32629A(745)v514",130,130,1,"32629A","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",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"非同义",12220,"1.0000=139/139","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32629A(745)v515",173,95,0.5491,"32629A","ACSM2B","chr16:20576048","c.120G>T(exon3)","p.V40V","rs112352583",0.27,0.69,0.7,0.69,0.68,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"同义",13203,"0.5266=99/188","位于基因组多拷贝区域+DNA结构正常",348158,"16p12.3","NM_182617"]
["32629A(745)v516",133,66,0.4962,"32629A","ACSM3","chr16:20792188","c.782+9T>C(exon5)","非编码区","rs5715",0.63,0.43,0.46,0.4,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSM3",1,130,"非编码区",16203,"0.4930=70/142","位于基因组单拷贝区域+DNA结构正常",6296,"16p13.11","NM_005622"]
["32629A(745)v517",103,42,0.4078,"32629A","ACSM4","chr12:7459340","c.412+1G>A(exon2)","剪切位点",{"$nulls":5},0.00052,null,"杂合","较高","突变在经典剪切位点上，可能影响mRNA剪切",{"$nulls":4},1,null,2,0,"ACSM4",1,160,"剪切位点",16404,"0.3729=44/118","位于基因组单拷贝区域+DNA结构正常",341392,"12p13.31","NM_001080454"]
["32629A(745)v518",110,110,1,"32629A","ACSM4","chr12:7463241","c.519A>T(exon3)","p.P173P","rs7968241",null,0.39,0.38,0.4,0.38,0.38,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACSM4",1,160,"同义",13303,"1.0000=118/118","位于基因组多拷贝区域+DNA结构正常",341392,"12p13.31","NM_001080454"]
["32629A(745)v519",70,31,0.4429,"32629A","ACSM5","chr16:20429581-20429582","c.405(exon3)_c.406(exon3)insATGCGG","p.C135_M136insMR","rs530730971",0.0008,0,0,0,0.0052,0.015,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,5,0,"ACSM5",1,140,"非移码",2211,"0.3721=32/86","位于基因组单拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32629A(745)v520",115,115,1,"32629A","ACSM5","chr16:20441053","c.1055C>G(exon8)","p.P352R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM5",1,140,"非同义",12210,"1.0000=124/124","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32629A(745)v521",119,119,1,"32629A","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",{"$nulls":4},5,null,5,0,"ACSM5",1,140,"同义",13203,"1.0000=130/130","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32629A(745)v522",142,142,1,"32629A","ACSM5","chr16:20448520","c.1436+19T>C(exon11)","非编码区","rs7499667",0.46,0.73,0.68,0.78,0.75,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM5",1,140,"非编码区",16203,"1.0000=164/164","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32629A(745)v523",5,5,1,"32629A","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",{"$nulls":4},5,null,5,0,"ACSM5",1,140,"非编码区",14200,"1.0000=5/5","位于基因组多拷贝区域+DNA结构正常",54988,"16p12.3","NM_017888"]
["32629A(745)v524",35,35,1,"32629A","ACSS1","chr20:25038484","c.255C>A(exon1)","p.T85T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSS1",0.94,67,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",84532,"20p11.23-p11.21","NM_032501"]
["32629A(745)v525",184,102,0.5543,"32629A","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,{"$nulls":3},5,null,2,0,"ACSS2",1,110,"同义",13203,"0.5450=115/211","位于基因组单拷贝区域+DNA结构正常",55902,"20q11.22","NM_001076552"]
["32629A(745)v526",80,41,0.5125,"32629A","ACSS2","chr20:33509275","c.1449+10G>A(exon12)","非编码区","rs3818273",0.51,0.44,0.47,0.41,null,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSS2",1,110,"非编码区",16203,"0.4945=45/91","位于基因组单拷贝区域+DNA结构正常",55902,"20q11.22","NM_001076552"]
["32629A(745)v527",149,68,0.4564,"32629A","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",1,200,"同义",13203,"0.4491=75/167","位于基因组单拷贝区域+DNA结构正常",79611,"12q21.31","NM_024560"]
["32629A(745)v528",62,40,0.6452,"32629A","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",1,130,"非编码区",16202,"0.6857=48/70","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"]
["32629A(745)v528",62,40,0.6452,"32629A","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",1,130,"非编码区",16202,"0.6857=48/70","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"]
["32629A(745)v528",62,40,0.6452,"32629A","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",1,130,"非编码区",16202,"0.6857=48/70","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"]
["32629A(745)v529",2,2,1,"32629A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"纯合","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,611788,5,1,3,3,"ACTA2",1,130,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32629A(745)v529",2,2,1,"32629A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"纯合","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",1,130,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32629A(745)v529",2,2,1,"32629A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24669260,"烟雾病5型",null,614042,5,1,3,3,"ACTA2",1,130,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32629A(745)v530",2,2,1,"32629A","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",1,130,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32629A(745)v530",2,2,1,"32629A","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",1,130,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32629A(745)v530",2,2,1,"32629A","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",1,130,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",59,"10q23.3","NM_001141945"]
["32629A(745)v531",11,7,0.6364,"32629A","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",1,80,"非编码区",14200,"0.6429=9/14","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101"]
["32629A(745)v531",11,7,0.6364,"32629A","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",1,80,"非编码区",14200,"0.6429=9/14","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101"]
["32629A(745)v532",34,34,1,"32629A","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,"纯合","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",1,80,"非编码区",16202,"1.0000=35/35","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101"]
["32629A(745)v532",34,34,1,"32629A","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,"纯合","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",1,80,"非编码区",16202,"1.0000=35/35","位于基因组多拷贝区域+DNA结构正常",60,"7p22","NM_001101"]
["32629A(745)v533",62,62,1,"32629A","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",1,65,"同义",13203,"1.0000=73/73","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"]
["32629A(745)v533",62,62,1,"32629A","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",1,65,"同义",13203,"1.0000=73/73","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"]
["32629A(745)v534",62,62,1,"32629A","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",1,65,"非编码区",16203,"1.0000=65/65","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"]
["32629A(745)v534",62,62,1,"32629A","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",1,65,"非编码区",16203,"1.0000=65/65","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"]
["32629A(745)v535",31,31,1,"32629A","ACTG2","chr2:74128433","c.-6C>T(exon2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,0.57,0.56,"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",1,120,"非编码区",14200,"1.0000=31/31","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32629A(745)v536",152,150,0.9868,"32629A","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",1,120,"非编码区",16202,"0.9882=167/169","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32629A(745)v537",112,112,1,"32629A","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",1,120,"非编码区",16202,"1.0000=125/125","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32629A(745)v538",143,143,1,"32629A","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",1,120,"同义",13203,"1.0000=160/160","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32629A(745)v539",84,83,0.9881,"32629A","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",1,120,"非编码区",16203,"0.9886=87/88","位于基因组单拷贝区域+DNA结构正常",72,"2p13.1","NM_001615"]
["32629A(745)v540",132,132,1,"32629A","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",1,240,"同义",13303,"1.0000=148/148","位于基因组单拷贝区域+DNA结构正常",86,"3q26.33","NM_178042"]
["32629A(745)v541",16,16,1,"32629A","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",{"$nulls":4},5,null,1,0,"ACTL6B",1,58,"非编码区",14200,"1.0000=17/17","位于基因组单拷贝区域+DNA结构正常",51412,"7q22","NM_016188"]
["32629A(745)v542",26,26,1,"32629A","ACTL7A","chr9:111625913","c.*3A>G(exon1)","非编码区","rs4978370",0.88,0.84,0.82,0.86,0.85,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACTL7A",1,83,"非编码区",14200,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",10881,"9q31","NM_006687"]
["32629A(745)v543",30,17,0.5667,"32629A","ACTL8","chr1:18149510","c.7G>T(exon2)","p.A3S","rs694214",0.31,0.41,0.47,0.35,0.4,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL8",1,47,"非同义",12220,"0.5667=17/30","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812"]
["32629A(745)v544",36,36,1,"32629A","ACTL8","chr1:18149566","c.63C>A(exon2)","p.G21G","rs2296035",0.48,0.68,0.7,0.67,0.65,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL8",1,47,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812"]
["32629A(745)v545",35,21,0.6,"32629A","ACTL8","chr1:18152582","c.669C>T(exon3)","p.D223D","rs478698",0.13,0.19,0.22,0.15,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL8",1,47,"同义",13203,"0.6154=24/39","位于基因组单拷贝区域+DNA结构正常",81569,"1p36.2-p35","NM_030812"]
["32629A(745)v546",27,27,1,"32629A","ACTL9","chr19:8808373","c.679C>A(exon1)","p.H227N","rs4804079",0.6,0.68,0.66,0.7,0.68,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTL9",1,31,"非同义",12220,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525"]
["32629A(745)v547",36,36,1,"32629A","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",{"$nulls":4},3,null,4,0,"ACTL9",1,31,"非同义",12320,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525"]
["32629A(745)v548",38,38,1,"32629A","ACTL9","chr19:8808942","c.110T>C(exon1)","p.F37S","rs2340550",0.79,0.85,0.86,0.84,0.87,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTL9",1,31,"非同义",12220,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525"]
["32629A(745)v549",7,7,1,"32629A","ACTL9","chr19:8809100","c.-49A>G(exon1)","非编码区","rs62117992",0.18,0.012,0.014,0.0097,0.01,0.012,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTL9",1,31,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",284382,"19p13.2","NM_178525"]
["32629A(745)v550",71,71,1,"32629A","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",1,92,"非编码区",16203,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32629A(745)v551",40,40,1,"32629A","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",1,92,"非编码区",16202,"1.0000=41/41","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32629A(745)v552",161,161,1,"32629A","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",1,92,"非编码区",16203,"1.0000=184/184","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32629A(745)v553",70,70,1,"32629A","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",1,92,"非编码区",16203,"1.0000=79/79","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32629A(745)v554",11,11,1,"32629A","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",1,92,"非编码区",2420,"1.0000=12/12","位于基因组单拷贝区域+DNA结构正常",87,"14q24|14q22-q24","NM_001130004"]
["32629A(745)v555",147,147,1,"32629A","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=173/173","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"]
["32629A(745)v556",165,165,1,"32629A","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=184/184","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"]
["32629A(745)v557",47,47,1,"32629A","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=52/52","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"]
["32629A(745)v558",20,9,0.45,"32629A","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,"0.4167=10/24","位于基因组单拷贝区域+DNA结构正常",88,"1q42-q43","NM_001103"]
["32629A(745)v559",81,80,0.9877,"32629A","ACTN4","chr19:39196745","c.546C>T(exon5)","p.N182N","rs3745859",0.34,0.39,0.41,0.37,0.4,0.44,"纯合","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,603278,5,1,1,1,"ACTN4",1,72,"同义",13203,"0.9891=91/92","位于基因组单拷贝区域+DNA结构正常",81,"19q13","NM_004924"]
["32629A(745)v560",21,9,0.4286,"32629A","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",1,220,"非编码区",14200,"0.3750=9/24","位于基因组单拷贝区域+DNA结构正常",55860,"14q23.1","NM_018477"]
["32629A(745)v561",224,101,0.4509,"32629A","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",{"$nulls":4},4,null,2,0,"ACTR10",1,220,"非编码区",2500,"0.4517=117/259","位于基因组单拷贝区域+DNA结构正常",55860,"14q23.1","NM_018477"]
["32629A(745)v562",58,28,0.4828,"32629A","ACTR1B","chr2:98273290","c.*31G>A(exon11)","非编码区","rs11547232",0.3,0.31,0.26,0.35,0.32,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,66,"非编码区",14200,"0.5075=34/67","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735"]
["32629A(745)v563",71,70,0.9859,"32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,66,"非编码区",16202,"0.9868=75/76","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735"]
["32629A(745)v564",45,45,1,"32629A","ACTR1B","chr2:98274527","c.804C>G(exon8)","p.V268V","rs1042705",0.53,0.38,0.33,0.43,0.4,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,66,"同义",13203,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",10120,"2q11.1-q11.2","NM_005735"]
["32629A(745)v565",100,100,1,"32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",16203,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32629A(745)v566",132,132,1,"32629A","ACTR2","chr2:65488538","c.896+12G>A(exon8)","非编码区","rs268862",0.81,0.81,0.8,0.82,0.82,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",16203,"1.0000=153/153","位于基因组单拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32629A(745)v567",162,88,0.5432,"32629A","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",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",14200,"0.5491=95/173","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32629A(745)v568",34,34,1,"32629A","ACTR2","chr2:65496018","c.*150C>G(exon10)","非编码区","rs11424",0.4,0.74,0.74,0.75,0.74,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",14200,"1.0000=35/35","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32629A(745)v569",5,5,1,"32629A","ACTR2","chr2:65496144","c.*276A>G(exon10)","非编码区","rs190577",0.81,0.8,0.79,0.81,0.78,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",14200,"1.0000=6/6","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32629A(745)v570",2,2,1,"32629A","ACTR2","chr2:65496187","c.*319G>A(exon10)","非编码区","rs12560",0.4,0.74,0.74,0.75,0.73,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",10097,"2p14","NM_001005386"]
["32629A(745)v571",12,5,0.4167,"32629A","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",{"$nulls":4},5,null,1,0,"ACTR3B",1,220,"非编码区",14200,"0.4167=5/12","位于基因组单拷贝区域+DNA结构正常",57180,"7q36.1","NM_020445"]
["32629A(745)v572",143,143,1,"32629A","ACTR3C","chr7:149981830","c.564+12A>C(exon6)","非编码区","rs4725334",0.93,0.99,0.99,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACTR3C",1,220,"非编码区",16203,"1.0000=161/161","位于基因组多拷贝区域+DNA结构正常",653857,"7q36.1","NM_001164458"]
["32629A(745)v573",189,77,0.4074,"32629A","ACTR3C","chr7:149983565","c.362A>G(exon5)","p.Q121R","rs28634863",0.29,0.19,0.2,0.17,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23352160,{"$nulls":3},5,null,2,0,"ACTR3C",1,220,"非同义",12220,"0.4292=91/212","位于基因组多拷贝区域+DNA结构正常",653857,"7q36.1","NM_001164458","GLN121STOP|\"Autism_spectrum_disorder\"|23352160"]
["32629A(745)v574",11,4,0.3636,"32629A","ACTR5","chr20:37377139","c.18C>T(exon1)","p.F6F","rs2254105",0.25,0.25,0.27,0.24,0.14,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTR5",1,90,"同义",13203,"0.3333=4/12","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855"]
["32629A(745)v575",102,54,0.5294,"32629A","ACTR5","chr20:37383640","c.816T>C(exon4)","p.N272N","rs2748663",0.24,0.26,0.27,0.24,0.24,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTR5",1,90,"同义",13203,"0.5283=56/106","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855"]
["32629A(745)v576",114,57,0.5,"32629A","ACTR5","chr20:37396120","c.1447A>G(exon8)","p.I483V","rs2245231",0.43,0.42,0.41,0.42,0.38,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTR5",1,90,"非同义",12220,"0.5115=67/131","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855"]
["32629A(745)v577",40,18,0.45,"32629A","ACTR5","chr20:37400374","c.1739C>T(exon9)","p.P580L","rs3752289",2E-3,0.0096,0.0095,0.0097,0.026,0.016,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,4,0,"ACTR5",1,90,"非同义",12110,"0.4762=20/42","位于基因组单拷贝区域+DNA结构正常",79913,"20q11.23","NM_024855"]
["32629A(745)v578",85,85,1,"32629A","ACTR8","chr3:53905308","c.1518A>G(exon11)","p.G506G","rs1046677",0.69,0.94,0.93,0.96,0.92,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACTR8",1,130,"同义",13203,"1.0000=105/105","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32629A(745)v579",124,124,1,"32629A","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",{"$nulls":4},5,null,5,0,"ACTR8",1,130,"同义",13203,"1.0000=146/146","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32629A(745)v580",67,67,1,"32629A","ACTR8","chr3:53910122","c.779-15C>T(exon7)","非编码区","rs62752960",0.31,0.32,0.34,0.31,0.86,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACTR8",1,130,"非编码区",16202,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32629A(745)v581",55,55,1,"32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACTR8",1,130,"非编码区",16202,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32629A(745)v582",141,141,1,"32629A","ACTR8","chr3:53914093","c.167C>T(exon2)","p.T56I","rs3733082",0.11,0.094,0.1,0.087,0.12,0.13,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACTR8",1,130,"非同义",12220,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",93973,"-","NM_022899"]
["32629A(745)v583",74,32,0.4324,"32629A","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",{"$nulls":4},5,null,4,0,"ACTRT2",1,72,"同义",13203,"0.4000=32/80","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431"]
["32629A(745)v584",58,32,0.5517,"32629A","ACTRT2","chr1:2938697","c.447T>G(exon1)","p.S149S","rs3795262",0.21,0.45,0.43,0.48,0.42,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTRT2",1,72,"同义",13203,"0.5373=36/67","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431"]
["32629A(745)v585",58,28,0.4828,"32629A","ACTRT2","chr1:2938989","c.739G>A(exon1)","p.G247R","rs3795263",0.12,0.13,0.14,0.12,0.13,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTRT2",1,72,"非同义",12210,"0.4706=32/68","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431"]
["32629A(745)v586",61,27,0.4426,"32629A","ACTRT2","chr1:2939409","c.*25G>T(exon1)","非编码区","rs12564513",0.078,0.22,0.23,0.21,0.21,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTRT2",1,72,"非编码区",14200,"0.4545=30/66","位于基因组单拷贝区域+DNA结构正常",140625,"1p36.32","NM_080431"]
["32629A(745)v587",38,38,1,"32629A","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",{"$nulls":4},5,null,3,0,"ACTRT3",1,97,"非编码区",16202,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487"]
["32629A(745)v588",8,8,1,"32629A","ACTRT3","chr3:169487437","c.-129C>T(exon1)","非编码区","rs12637184",0.27,0.56,0.53,0.59,0.48,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTRT3",1,97,"非编码区",14200,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487"]
["32629A(745)v589",3,3,1,"32629A","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",{"$nulls":4},5,null,3,0,"ACTRT3",1,97,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",84517,"3q26.2","NM_032487"]
["32629A(745)v590",20,20,1,"32629A","ACVR1B","chr12:52345498-52345500","c.-30(exon1)_c.-28(exon1)delGCG","非编码区","rs10540557",0.85,0.97,0.97,0.98,0.29,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胰腺癌",null,260350,5,1,2,1,"ACVR1B",0.96,77,"非编码区",2420,"1.0000=29/29","位于基因组单拷贝区域+简单重复结构",91,"12q13","NM_020328"]
["32629A(745)v591",59,59,1,"32629A","ACVR1B","chr12:52369300","c.331+12C>T(exon2)","非编码区","rs2242106",0.29,0.29,0.28,0.3,0.37,0.32,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胰腺癌",null,260350,5,1,2,1,"ACVR1B",0.96,77,"非编码区",16203,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",91,"12q13","NM_020328"]
["32629A(745)v592",231,231,1,"32629A","ACVR1C","chr2:158395079","c.1356+6G>C(exon8)","非编码区","rs7576514",0.84,0.92,0.95,0.9,0.93,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACVR1C",1,170,"非编码区",16202,"1.0000=259/259","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_145259"]
["32629A(745)v593",120,119,0.9917,"32629A","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",{"$nulls":4},5,null,2,0,"ACVR1C",1,170,"非编码区",16202,"0.9931=143/144","位于基因组单拷贝区域+DNA结构正常",130399,"2q24.1","NM_145259"]
["32629A(745)v594",54,54,1,"32629A","ACVR1","chr2:158626980","c.690G>A(exon7)","p.E230E","rs1146031",0.91,0.98,0.98,0.99,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18781190;19299629;23644028","进行性骨化性纤维发育不良","AD",135100,5,1,3,1,"ACVR1",1,160,"同义",13203,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105"]
["32629A(745)v595",64,64,1,"32629A","ACVR1","chr2:158636910","c.270C>T(exon4)","p.A90A","rs2227861",0.65,0.91,0.91,0.91,0.93,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18781190;19299629","进行性骨化性纤维发育不良","AD",135100,5,1,3,1,"ACVR1",1,160,"同义",13203,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105"]
["32629A(745)v596",46,11,0.2391,"32629A","ACVR1","chr2:158637132-158637133","c.68-21(exon4)_c.68-20(exon4)insC","非编码区","rs374791093",0.023,0.031,0.029,0.034,0.0027,0.054,"杂合","未知","内含子突变",null,"进行性骨化性纤维发育不良","AD",135100,4,1,3,1,"ACVR1",1,160,"非编码区",2500,"0.2083=10/48","位于基因组单拷贝区域+DNA结构正常",90,"2q23-q24","NM_001105"]
["32629A(745)v597",172,172,1,"32629A","ACVR2A","chr2:148657117","c.354G>A(exon3)","p.P118P","rs1128919",0.35,0.48,0.52,0.44,0.52,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19126782,{"$nulls":3},5,null,1,0,"ACVR2A",1,230,"同义",13203,"1.0000=194/194","位于基因组单拷贝区域+DNA结构正常",92,"2q22.3","NM_001616"]
["32629A(745)v598",17,17,1,"32629A","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",{"$nulls":4},5,null,1,0,"ACY3",1,60,"非同义",12220,"1.0000=17/17","位于基因组单拷贝区域+DNA结构正常",91703,"11q13.2","NM_080658"]
["32629A(745)v599",72,72,1,"32629A","ACYP1","chr14:75520065","c.*293A>G(exon4)","非编码区","rs7303",0.5,0.83,0.82,0.83,0.84,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20386703,{"$nulls":3},5,null,1,0,"ACYP1",1,110,"非编码区",14200,"1.0000=86/86","位于基因组单拷贝区域+DNA结构正常",97,"14q24.3","NM_203488"]
["32629A(745)v600",12,6,0.5,"32629A","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",{"$nulls":4},5,null,6,0,"ADAD2",1,39,"非编码区",14200,"0.4615=6/13","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32629A(745)v601",22,10,0.4545,"32629A","ADAD2","chr16:84224967","c.131G>A(exon1)","p.G44E","rs8044695",0.69,0.71,0.67,0.74,0.7,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,39,"非同义",12220,"0.4167=10/24","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32629A(745)v602",14,6,0.4286,"32629A","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",{"$nulls":4},5,null,6,0,"ADAD2",1,39,"同义",13203,"0.4286=6/14","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32629A(745)v603",17,17,1,"32629A","ADAD2","chr16:84229559","c.1437T>C(exon8)","p.S479S","rs2303238",0.81,0.71,0.69,0.73,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,39,"同义",13203,"1.0000=19/19","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32629A(745)v604",18,9,0.5,"32629A","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",{"$nulls":4},5,null,6,0,"ADAD2",1,39,"同义",13203,"0.5500=11/20","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32629A(745)v605",16,8,0.5,"32629A","ADAD2","chr16:84230376","c.1893+3T>C(exon10)","非编码区","rs2303242",0.58,0.46,0.49,0.43,0.46,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAD2",1,39,"非编码区",16201,"0.5556=10/18","位于基因组单拷贝区域+DNA结构正常",161931,"16q24.1","NM_139174"]
["32629A(745)v606",27,27,1,"32629A","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",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"同义",13203,"0.9655=28/29","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32629A(745)v607",39,39,1,"32629A","ADAM11","chr17:42852604","c.1245G>T(exon15)","p.S415S","rs1558083",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"同义",13203,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32629A(745)v608",38,38,1,"32629A","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",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32629A(745)v609",41,39,0.9512,"32629A","ADAM11","chr17:42854610","c.1758T>C(exon21)","p.S586S","rs8075210",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"同义",13203,"0.9524=40/42","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32629A(745)v610",52,52,1,"32629A","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",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"非编码区",16203,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32629A(745)v611",76,76,1,"32629A","ADAM11","chr17:42855554","c.2220T>C(exon25)","p.I740I","rs2070605",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"同义",13203,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32629A(745)v612",4,4,1,"32629A","ADAM11","chr17:42857430","c.*308G>A(exon27)","非编码区","rs35504352",0.65,0.77,0.76,0.79,0.7,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"非编码区",14200,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",4185,"17q21.3","NM_002390"]
["32629A(745)v613",57,57,1,"32629A","ADAM12","chr10:127724778","c.2475T>C(exon21)","p.A825A","rs1044122",0.27,0.45,0.47,0.44,0.38,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ADAM12",1,120,"同义",13203,"1.0000=70/70","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474"]
["32629A(745)v614",48,21,0.4375,"32629A","ADAM12","chr10:127730728","c.2190G>A(exon19)","p.A730A","rs34265990",0.18,0.31,0.27,0.34,0.31,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ADAM12",1,120,"同义",13203,"0.4510=23/51","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_021641"]
["32629A(745)v615",154,154,1,"32629A","ADAM12","chr10:127786969","c.1005+16T>C(exon10)","非编码区","rs2290842",0.62,0.6,0.61,0.59,null,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ADAM12",1,120,"非编码区",16203,"1.0000=170/170","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474"]
["32629A(745)v616",122,67,0.5492,"32629A","ADAM12","chr10:127967532","c.212G>A(exon3)","p.R71Q","rs75316572",0.032,0.07,0.076,0.063,0.063,0.055,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"ADAM12",1,120,"非同义",12120,"0.5612=78/139","位于基因组单拷贝区域+DNA结构正常",8038,"10q26.3","NM_003474"]
["32629A(745)v617",118,118,1,"32629A","ADAM12","chr10:128019025","c.142G>C(exon2)","p.G48R","rs3740199",null,0.47,0.44,0.5,0.5,0.5,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","19268722;16385451;23491141",{"$nulls":3},3,null,5,0,"ADAM12",1,120,"非同义",12320,"1.0000=134/134","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"]
["32629A(745)v618",40,40,1,"32629A","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",{"$nulls":4},5,null,2,0,"ADAM15",1,66,"非同义",12220,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_207197"]
["32629A(745)v619",31,9,0.2903,"32629A","ADAM15","chr1:155033317","c.2277+9T>C(exon19)","非编码区","rs11264304",0.7,0.94,0.94,0.94,0.91,0.91,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM15",1,66,"非编码区",16203,"0.2812=9/32","位于基因组单拷贝区域+DNA结构正常",8751,"1q21.3","NM_207197"]
["32629A(745)v620",93,42,0.4516,"32629A","ADAM19","chr5:156916167","c.2268C>T(exon20)","p.S756S","rs753277652",{"$nulls":4},0.0011,1E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ADAM19",1,89,"同义",13303,"0.4537=49/108","位于基因组单拷贝区域+DNA结构正常",8728,"5q33.3","NM_033274"]
["32629A(745)v621",84,40,0.4762,"32629A","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",{"$nulls":4},5,null,3,0,"ADAM20",1,130,"同义",13203,"0.4787=45/94","位于基因组单拷贝区域+DNA结构正常",8748,"14q24.1","NM_003814"]
["32629A(745)v622",91,41,0.4505,"32629A","ADAM20","chr14:70990398","c.1227C>T(exon2)","p.C409C","rs10162314",0.058,0.026,0.029,0.024,0.024,0.023,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM20",1,130,"同义",13203,"0.4706=48/102","位于基因组单拷贝区域+DNA结构正常",8748,"14q24.1","NM_003814"]
["32629A(745)v623",23,14,0.6087,"32629A","ADAM20","chr14:70991650","c.-26T>G(exon2)","非编码区","rs74062730",0.19,0.51,0.46,0.57,0.52,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM20",1,130,"非编码区",14200,"0.5833=14/24","位于基因组单拷贝区域+DNA结构正常",8748,"14q24.1","NM_003814"]
["32629A(745)v624",34,16,0.4706,"32629A","ADAM21","chr14:70924072","c.-145A>G(exon2)","非编码区","rs4143920",0.31,0.54,0.54,0.54,0.54,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"非编码区",14200,"0.4571=16/35","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v625",101,42,0.4158,"32629A","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",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.3925=42/107","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v626",95,48,0.5053,"32629A","ADAM21","chr14:70924462","c.246A>G(exon2)","p.L82L","rs3751523",{"$nulls":4},0.53,0.54,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,100,"同义",13303,"0.5196=53/102","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v627",77,72,0.9351,"32629A","ADAM21","chr14:70924501","c.285C>G(exon2)","p.D95E","rs8010994",{"$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",{"$nulls":4},3,null,13,0,"ADAM21",1,100,"非同义",12320,"0.9398=78/83","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v628",73,31,0.4247,"32629A","ADAM21","chr14:70924507","c.291A>C(exon2)","p.A97A","rs3751524",{"$nulls":4},0.07,0.067,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,100,"同义",13303,"0.4557=36/79","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v629",64,35,0.5469,"32629A","ADAM21","chr14:70924566","c.350C>G(exon2)","p.A117G","rs3829452",0.37,0.6,0.59,0.61,0.62,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"非同义",12220,"0.5556=40/72","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v630",64,35,0.5469,"32629A","ADAM21","chr14:70924567","c.351A>T(exon2)","p.A117A","rs3829453",0.37,0.6,0.59,0.61,0.61,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.5556=40/72","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v631",50,21,0.42,"32629A","ADAM21","chr14:70924693","c.477T>C(exon2)","p.Y159Y","rs45480894",0.26,0.52,0.52,0.52,0.52,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.4426=27/61","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v632",47,19,0.4043,"32629A","ADAM21","chr14:70924696","c.480G>A(exon2)","p.K160K","rs77892318",0.25,0.52,0.51,0.52,0.52,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.4211=24/57","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v633",47,20,0.4255,"32629A","ADAM21","chr14:70924697","c.481A>G(exon2)","p.I161V","rs45545935",0.25,0.52,0.51,0.52,0.52,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"非同义",12220,"0.4483=26/58","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v634",80,36,0.45,"32629A","ADAM21","chr14:70924955","c.739A>C(exon2)","p.K247Q","rs114864695",0.28,0.54,0.54,0.54,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"非同义",12220,"0.4302=37/86","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v635",79,79,1,"32629A","ADAM21","chr14:70925257","c.1041A>G(exon2)","p.L347L","rs12436346",{"$nulls":4},1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"ADAM21",1,100,"同义",13303,"1.0000=85/85","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v636",47,16,0.3404,"32629A","ADAM21","chr14:70925818","c.1602T>C(exon2)","p.N534N","rs2022624",0.74,0.9,0.9,0.89,0.88,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.3077=16/52","位于基因组多拷贝区域+DNA结构正常",8747,"14q24.1","NM_003813"]
["32629A(745)v637",31,18,0.5806,"32629A","ADAM22","chr7:87564497","c.242C>G(exon2)","p.P81R","rs2279542",0.63,0.52,0.57,0.47,0.48,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM22",1,200,"非同义",12220,"0.5882=20/34","位于基因组单拷贝区域+DNA结构正常",53616,"7q21","NM_021723"]
["32629A(745)v638",137,68,0.4964,"32629A","ADAM22","chr7:87774727","c.1393-3T>C(exon17)","非编码区","rs3761806",0.12,0.23,0.24,0.23,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM22",1,200,"非编码区",16202,"0.5000=77/154","位于基因组单拷贝区域+DNA结构正常",53616,"7q21","NM_021723"]
["32629A(745)v639",100,54,0.54,"32629A","ADAM23","chr2:207459467","c.2085C>T(exon23)","p.A695A","rs3732079",0.18,0.17,0.15,0.19,0.18,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ADAM23",1,150,"同义",13203,"0.5135=57/111","位于基因组单拷贝区域+DNA结构正常",8745,"2q33","NM_003812"]
["32629A(745)v640",205,205,1,"32629A","ADAM28","chr8:24171051","c.534C>T(exon6)","p.H178H","rs6996616",0.19,0.39,0.38,0.41,0.38,0.35,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"同义",13203,"1.0000=223/223","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v641",125,123,0.984,"32629A","ADAM28","chr8:24188844","c.1281+4T>C(exon12)","非编码区","rs2278467",0.22,0.4,0.39,0.42,0.39,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非编码区",16202,"0.9860=141/143","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v642",56,56,1,"32629A","ADAM28","chr8:24193264","c.*54T>C(exon14)","非编码区","rs4872222",0.99,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非编码区",14200,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_021777"]
["32629A(745)v643",169,82,0.4852,"32629A","ADAM28","chr8:24199091","c.1671-20C>A(exon16)","非编码区","rs11996594",0.098,0.084,0.062,0.11,0.12,0.093,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非编码区",16202,"0.4974=94/189","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v644",165,85,0.5152,"32629A","ADAM28","chr8:24199099","c.1671-12C>G(exon16)","非编码区","rs188642389",1E-3,0.0024,0,0.0049,0.0021,0.007,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,12,0,"ADAM28",1,210,"非编码区",16102,"0.5054=93/184","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v645",196,99,0.5051,"32629A","ADAM28","chr8:24199218","c.1778C>A(exon16)","p.T593K","rs36041430",0.098,0.084,0.062,0.11,0.12,0.093,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非同义",12220,"0.5354=121/226","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v646",163,85,0.5215,"32629A","ADAM28","chr8:24207399","c.2013G>C(exon19)","p.V671V","rs7829944",0.072,0.091,0.062,0.12,0.12,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"同义",13203,"0.5156=99/192","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v647",172,93,0.5407,"32629A","ADAM28","chr8:24207438","c.2052G>A(exon19)","p.M684I","rs7829965",0.08,0.091,0.062,0.12,0.12,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非同义",12220,"0.5228=103/197","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v648",176,176,1,"32629A","ADAM28","chr8:24211278","c.2245-5C>T(exon22)","非编码区","rs7815643",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非编码区",16202,"1.0000=203/203","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v649",160,159,0.9938,"32629A","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",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非同义",12220,"0.9946=184/185","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v650",139,139,1,"32629A","ADAM28","chr8:24211884-24211885","c.2308-13(exon23)_c.2308-12(exon23)insTGTC","非编码区","rs10694022",0.97,1,1,1,0.8,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,12,0,"ADAM28",1,210,"非编码区",2500,"1.0000=150/150","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v651",129,129,1,"32629A","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",{"$nulls":4},3,null,12,0,"ADAM28",1,210,"非编码区",2430,"1.0000=141/141","位于基因组单拷贝区域+DNA结构正常",10863,"8p21.2","NM_014265"]
["32629A(745)v652",86,86,1,"32629A","ADAM29","chr4:175898555","c.1879C>T(exon5)","p.P627S","rs78280171",0.049,0.23,0.25,0.22,0.24,0.24,"纯合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"ADAM29",1,150,"非同义",12110,"1.0000=95/95","位于基因组多拷贝区域+DNA结构正常",11086,"4q34","NM_014269"]
["32629A(745)v653",27,27,1,"32629A","ADAM32","chr8:38965271","c.-24C>T(exon1)","非编码区","rs59118660",0.44,0.69,0.71,0.66,0.68,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM32",1,260,"非编码区",14200,"1.0000=29/29","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004"]
["32629A(745)v654",144,144,1,"32629A","ADAM32","chr8:39080632","c.1400C>G(exon14)","p.T467S","rs7845771",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM32",1,260,"非同义",12230,"1.0000=166/166","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004"]
["32629A(745)v655",225,133,0.5911,"32629A","ADAM32","chr8:39091526","c.1743T>C(exon16)","p.T581T","rs4515515",0.22,0.3,0.29,0.31,0.3,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM32",1,260,"同义",13203,"0.6130=160/261","位于基因组单拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004"]
["32629A(745)v656",274,143,0.5219,"32629A","ADAM32","chr8:39128387","c.2163-8C>T(exon20)","非编码区","rs4733994",0.22,0.29,0.27,0.31,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM32",1,260,"非编码区",16202,"0.5132=156/304","位于基因组多拷贝区域+DNA结构正常",203102,"8p11.22","NM_145004"]
["32629A(745)v657",46,17,0.3696,"32629A","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",{"$nulls":3},5,null,8,0,"ADAM33",1,41,"非同义",12210,"0.3469=17/49","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220","rs2280090|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279"]
["32629A(745)v658",52,20,0.3846,"32629A","ADAM33","chr20:3650234","c.2291T>C(exon20)","p.M764T","rs2280091",0.13,0.099,0.11,0.087,0.06,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20003279;16024651;16784537;17878941;18778489",{"$nulls":3},5,null,8,0,"ADAM33",1,41,"非同义",12210,"0.3571=20/56","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"]
["32629A(745)v659",39,39,1,"32629A","ADAM33","chr20:3651742","c.2151G>C(exon19)","p.G717G","rs528557",0.39,0.23,0.25,0.2,0.17,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16784537;19146844;19236319;19284602;19317339",{"$nulls":3},5,null,8,0,"ADAM33",1,41,"同义",13203,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32629A(745)v660",47,24,0.5106,"32629A","ADAM33","chr20:3651765","c.2128G>A(exon19)","p.V710I","rs3918396",0.048,0.019,0.019,0.019,0.012,0.025,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","12695330;16784537;17878941;18778489;19236319",{"$nulls":3},3,null,8,0,"ADAM33",1,41,"非同义",12120,"0.5294=27/51","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32629A(745)v661",16,6,0.375,"32629A","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",{"$nulls":4},2,null,8,0,"ADAM33",1,41,"非同义",12110,"0.3529=6/17","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32629A(745)v662",4,2,0.5,"32629A","ADAM33","chr20:3654433","c.864G>A(exon9)","p.G288G","rs2271511",0.28,0.2,0.22,0.17,0.13,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21320344,{"$nulls":3},5,null,8,0,"ADAM33",1,41,"同义",13203,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32629A(745)v663",40,18,0.45,"32629A","ADAM33","chr20:3657803","c.178-13T>C(exon3)","非编码区","rs568251",0.9,0.96,0.97,0.96,null,0.97,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAM33",1,41,"非编码区",16202,"0.4524=19/42","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32629A(745)v664",38,17,0.4474,"32629A","ADAM33","chr20:3657804","c.178-14A>T(exon3)","非编码区","rs597165",0.9,0.96,0.97,0.96,null,0.97,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAM33",1,41,"非编码区",16202,"0.4500=18/40","位于基因组单拷贝区域+DNA结构正常",80332,"20p13","NM_025220"]
["32629A(745)v665",327,164,0.5015,"32629A","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",{"$nulls":4},5,null,3,0,"ADAM7",1,230,"非同义",12210,"0.5040=191/379","位于基因组单拷贝区域+DNA结构正常",8756,"8p21.2","NM_003817"]
["32629A(745)v666",262,128,0.4885,"32629A","ADAM7","chr8:24356818","c.1912A>C(exon17)","p.N638H","rs13259668",0.33,0.18,0.15,0.21,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19435634,{"$nulls":3},5,null,3,0,"ADAM7",1,230,"非同义",12210,"0.4816=144/299","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"]
["32629A(745)v667",217,107,0.4931,"32629A","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",{"$nulls":4},5,null,3,0,"ADAM7",1,230,"同义",13203,"0.4653=114/245","位于基因组单拷贝区域+DNA结构正常",8756,"8p21.2","NM_003817"]
["32629A(745)v668",36,36,1,"32629A","ADAM8","chr10:135076523","c.*137G>T(exon23)","非编码区","rs2995300",0.83,0.94,0.93,0.94,null,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非编码区",14200,"1.0000=41/41","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v669",57,57,1,"32629A","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",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非编码区",14200,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v670",59,59,1,"32629A","ADAM8","chr10:135082346","c.1969T>C(exon19)","p.F657L","rs2275720",0.82,0.95,0.96,0.95,0.9,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,11,0,"ADAM8",1,42,"非同义",12220,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v671",18,18,1,"32629A","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",{"$nulls":4},4,null,11,0,"ADAM8",1,42,"非编码区",2500,"1.0000=18/18","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v672",25,25,1,"32629A","ADAM8","chr10:135084322","c.1565-13T>C(exon15)","非编码区","rs3008321",0.9,0.95,0.96,0.95,0.83,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非编码区",16202,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v673",21,21,1,"32629A","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",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"同义",13203,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v674",17,17,1,"32629A","ADAM8","chr10:135085426","c.990T>C(exon11)","p.C330C","rs1131719",0.92,0.95,0.96,0.95,0.81,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"同义",13203,"1.0000=17/17","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v675",37,37,1,"32629A","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",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v676",56,56,1,"32629A","ADAM8","chr10:135086380","c.637-10G>A(exon8)","非编码区","rs3008324",0.89,0.95,0.96,0.95,0.93,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非编码区",16202,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v677",44,43,0.9773,"32629A","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",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非同义",12220,"0.9773=43/44","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001164490"]
["32629A(745)v678",61,61,1,"32629A","ADAM8","chr10:135089035","c.103T>C(exon2)","p.W35R","rs2275725",0.9,0.95,0.96,0.95,0.81,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非同义",12220,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",101,"10q26.3","NM_001109"]
["32629A(745)v679",92,92,1,"32629A","ADAM9","chr8:38884342-38884343","c.1130+13(exon11)_c.1130+14(exon11)insTTCT","非编码区","rs10652213",{"$nulls":4},0.57,0.95,"纯合","未知","内含子突变",null,"视锥-视杆细胞营养不良9型",null,612775,4,1,2,1,"ADAM9",1,180,"非编码区",2500,"1.0000=97/97","位于基因组单拷贝区域+DNA结构正常",8754,"8p11.22","NM_003816"]
["32629A(745)v680",3,3,1,"32629A","ADAM9","chr8:38961550","c.*331G>T(exon22)","非编码区","rs4733973",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"视锥-视杆细胞营养不良9型",null,612775,5,1,2,1,"ADAM9",1,180,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",8754,"8p11.22","NM_003816"]
["32629A(745)v681",191,86,0.4503,"32629A","ADAMDEC1","chr8:24256052","c.513C>T(exon9)","p.N171N","rs2291576",0.066,0.11,0.09,0.13,0.078,0.078,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMDEC1",1,200,"同义",13203,"0.4605=99/215","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271"]
["32629A(745)v682",129,61,0.4729,"32629A","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,{"$nulls":3},5,null,3,0,"ADAMDEC1",1,200,"同义",13203,"0.4789=68/142","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271"]
["32629A(745)v683",297,159,0.5354,"32629A","ADAMDEC1","chr8:24261526","c.1094A>G(exon14)","p.N365S","rs3765124",0.29,0.2,0.17,0.22,0.21,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18449420,{"$nulls":3},5,null,3,0,"ADAMDEC1",1,200,"非同义",12210,"0.5442=197/362","位于基因组单拷贝区域+DNA结构正常",27299,"8p21.2","NM_001145271"]
["32629A(745)v684",40,40,1,"32629A","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",1,45,"非同义",12230,"1.0000=41/41","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957"]
["32629A(745)v685",18,18,1,"32629A","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",1,45,"非同义",12220,"1.0000=21/21","位于基因组单拷贝区域+DNA结构正常",81794,"19p13.2","NM_030957"]
["32629A(745)v686",70,70,1,"32629A","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",{"$nulls":3},5,null,3,0,"ADAMTS12",1,100,"非同义",12210,"1.0000=77/77","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955"]
["32629A(745)v687",92,46,0.5,"32629A","ADAMTS12","chr5:33624430","c.2049T>C(exon14)","p.D683D","rs61748198",0.16,0.24,0.22,0.25,0.24,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS12",1,100,"同义",13203,"0.5204=51/98","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955"]
["32629A(745)v688",66,66,1,"32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS12",1,100,"非编码区",16202,"1.0000=75/75","位于基因组单拷贝区域+DNA结构正常",81792,"5q35","NM_030955"]
["32629A(745)v689",41,41,1,"32629A","ADAMTS13","chr9:136291063","c.420C>T(exon5)","p.A140A","rs3118667",0.58,0.84,0.85,0.83,0.85,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,3,1,"ADAMTS13",1,50,"同义",13203,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025"]
["32629A(745)v690",49,49,1,"32629A","ADAMTS13","chr9:136304497","c.1716A>G(exon15)","p.T572T","rs3124768",0.52,0.82,0.82,0.82,0.82,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",22768050,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,3,1,"ADAMTS13",1,50,"同义",13203,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025","rs3124768|\"Reduced_expression\"|22768050"]
["32629A(745)v691",13,13,1,"32629A","ADAMTS13","chr9:136308542","c.2280C>T(exon19)","p.G760G","rs3124767",0.5,0.81,0.82,0.81,0.81,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性血栓性血小板减少性紫癜/先天性血栓性血小板减少性紫癜","AR",274150,5,1,3,1,"ADAMTS13",1,50,"同义",13203,"0.9286=13/14","位于基因组单拷贝区域+DNA结构正常",11093,"9q34","NM_139025"]
["32629A(745)v692",52,52,1,"32629A","ADAMTS14","chr10:72500763","c.1778T>C(exon12)","p.L593P","rs10823607",0.8,0.91,0.9,0.93,0.89,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23728906,{"$nulls":3},5,null,10,0,"ADAMTS14",1,59,"非同义",12220,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v693",36,36,1,"32629A","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,{"$nulls":3},5,null,10,0,"ADAMTS14",1,59,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v694",79,44,0.557,"32629A","ADAMTS14","chr10:72503344","c.1974G>A(exon13)","p.T658T","rs10999502",0.31,0.49,0.48,0.5,0.46,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS14",1,59,"同义",13203,"0.5604=51/91","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v695",15,10,0.6667,"32629A","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,{"$nulls":3},5,null,10,0,"ADAMTS14",1,59,"非同义",12220,"0.6667=10/15","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v696",24,14,0.5833,"32629A","ADAMTS14","chr10:72513682","c.2865C>T(exon19)","p.C955C","rs2587475",0.53,0.5,0.52,0.48,0.36,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS14",1,59,"同义",13203,"0.6000=15/25","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v697",72,34,0.4722,"32629A","ADAMTS14","chr10:72517830","c.3059G>A(exon20)","p.S1020N","rs10999516",0.21,0.35,0.35,0.34,0.31,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS14",1,59,"非同义",12220,"0.4800=36/75","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v698",99,46,0.4646,"32629A","ADAMTS14","chr10:72518009","c.3155A>G(exon21)","p.E1052G","rs4747096",0.22,0.35,0.35,0.34,0.34,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18790654;23491141",{"$nulls":3},5,null,10,0,"ADAMTS14",1,59,"非同义",12220,"0.4954=54/109","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v699",59,28,0.4746,"32629A","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",{"$nulls":4},5,null,10,0,"ADAMTS14",1,59,"非同义",12220,"0.4928=34/69","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v700",29,17,0.5862,"32629A","ADAMTS14","chr10:72520660","c.*51T>C(exon22)","非编码区","rs10999519",0.22,0.35,0.35,0.34,null,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS14",1,59,"非编码区",14200,"0.6000=18/30","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v701",2,2,1,"32629A","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",{"$nulls":4},5,null,10,0,"ADAMTS14",1,59,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",140766,"10q21","NM_139155"]
["32629A(745)v702",42,25,0.5952,"32629A","ADAMTS15","chr11:130339312","c.1698T>C(exon5)","p.N566N","rs731446",0.57,0.35,0.34,0.36,0.38,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS15",1,52,"同义",13203,"0.5870=27/46","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055"]
["32629A(745)v703",48,21,0.4375,"32629A","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",{"$nulls":4},5,null,3,0,"ADAMTS15",1,52,"非同义",12210,"0.4286=21/49","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055"]
["32629A(745)v704",16,8,0.5,"32629A","ADAMTS15","chr11:130343368","c.2505G>A(exon8)","p.P835P","rs61757474",0.013,0.041,0.043,0.039,0.059,0.038,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ADAMTS15",1,52,"同义",13103,"0.5000=8/16","位于基因组单拷贝区域+DNA结构正常",170689,"11q25","NM_139055"]
["32629A(745)v705",28,10,0.3571,"32629A","ADAMTS16","chr5:5140632","c.52T>C(exon1)","p.L18L","rs270208",0.62,0.8,0.82,0.77,0.76,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"同义",13203,"0.3939=13/33","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v706",33,13,0.3939,"32629A","ADAMTS16","chr5:5146223","c.176-20G>C(exon3)","非编码区","rs1871468",0.79,0.65,0.67,0.63,0.66,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19423552,{"$nulls":3},5,null,10,0,"ADAMTS16",1,95,"非编码区",16202,"0.3889=14/36","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v707",55,33,0.6,"32629A","ADAMTS16","chr5:5146335","c.268C>G(exon3)","p.P90A","rs2086310",0.7,0.49,0.49,0.48,0.52,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19423552,{"$nulls":3},5,null,10,0,"ADAMTS16",1,95,"非同义",12220,"0.5862=34/58","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056","PRO90ALA|\"Increased_systolic_blood_pressure_association_with\"|19423552"]
["32629A(745)v708",67,67,1,"32629A","ADAMTS16","chr5:5146395","c.328A>G(exon3)","p.M110V","rs1863968",0.48,0.39,0.35,0.43,0.42,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"非同义",12220,"1.0000=68/68","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v709",91,34,0.3736,"32629A","ADAMTS16","chr5:5200281","c.1350C>T(exon9)","p.C450C","rs6555335",0.73,0.83,0.82,0.84,0.83,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"同义",13203,"0.3824=39/102","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v710",132,61,0.4621,"32629A","ADAMTS16","chr5:5239862","c.2347A>G(exon16)","p.T783A","rs147650341",3.8E-3,0.014,0.014,0.015,0.017,0.013,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,10,0,"ADAMTS16",1,95,"非同义",12120,"0.4483=65/145","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v711",150,84,0.56,"32629A","ADAMTS16","chr5:5239921","c.2406C>T(exon16)","p.T802T","rs11742341",0.11,0.099,0.081,0.12,0.088,0.089,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"同义",13203,"0.5569=93/167","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v712",105,59,0.5619,"32629A","ADAMTS16","chr5:5240002","c.2487C>A(exon16)","p.I829I","rs11742370",0.11,0.099,0.081,0.12,0.089,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"同义",13203,"0.5487=62/113","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v713",85,35,0.4118,"32629A","ADAMTS16","chr5:5262766","c.2663-4G>A(exon18)","非编码区","rs34433845",0.22,0.11,0.11,0.1,0.12,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"非编码区",16202,"0.3854=37/96","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v714",7,3,0.4286,"32629A","ADAMTS16","chr5:5319407","c.*156T>G(exon23)","非编码区","rs16875319",0.37,0.54,0.54,0.54,0.54,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"非编码区",14200,"0.3750=3/8","位于基因组单拷贝区域+DNA结构正常",170690,"5p15","NM_139056"]
["32629A(745)v715",16,6,0.375,"32629A","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",0.89,82,"非编码区",14200,"0.3529=6/17","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v716",16,6,0.375,"32629A","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",0.89,82,"非编码区",14200,"0.3529=6/17","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v717",46,20,0.4348,"32629A","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",0.89,82,"非编码区",14200,"0.4375=21/48","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v718",60,23,0.3833,"32629A","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",0.89,82,"非编码区",14200,"0.3968=25/63","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v719",70,28,0.4,"32629A","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",0.89,82,"非编码区",14300,"0.4000=30/75","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v720",79,35,0.443,"32629A","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",0.89,82,"非同义",12220,"0.4353=37/85","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v721",59,29,0.4915,"32629A","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",0.89,82,"非编码区",16202,"0.4722=34/72","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v722",76,44,0.5789,"32629A","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",0.89,82,"非编码区",16202,"0.5341=47/88","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v723",87,41,0.4713,"32629A","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",0.89,82,"同义",13203,"0.4286=42/98","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v724",70,70,1,"32629A","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",0.89,82,"同义",13203,"1.0000=81/81","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v725",48,19,0.3958,"32629A","ADAMTS17","chr15:100692845","c.1445T>C(exon10)","p.M482T","rs28567966",0.15,0.065,0.062,0.068,0.062,0.053,"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",0.89,82,"非同义",12220,"0.4182=23/55","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v726",141,141,1,"32629A","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",0.89,82,"同义",13203,"1.0000=162/162","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v727",78,40,0.5128,"32629A","ADAMTS17","chr15:100801698","c.1017C>T(exon6)","p.A339A","rs4965613",0.69,0.61,0.59,0.62,0.63,0.63,"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",0.89,82,"同义",13203,"0.5521=53/96","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v728",68,68,1,"32629A","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,"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",0.89,82,"非编码区",16203,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v729",65,65,1,"32629A","ADAMTS17","chr15:100821467","c.756C>T(exon4)","p.A252A","rs7496640",null,0.49,0.5,0.49,0.52,0.54,"纯合","未知","预测范围之外的同义突变",null,"Weill-Marchesani样综合症","AR",613195,4,1,16,1,"ADAMTS17",0.89,82,"同义",13303,"1.0000=79/79","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v730",34,34,1,"32629A","ADAMTS17","chr15:100821576","c.647C>T(exon4)","p.S216L","rs7496668",0.48,0.49,0.5,0.49,0.52,0.54,"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",0.89,82,"非同义",12210,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",170691,"15q24","NM_139057"]
["32629A(745)v731",6,3,0.5,"32629A","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",615458,5,3,8,1,"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"]
["32629A(745)v732",47,24,0.5106,"32629A","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",615458,5,3,8,1,"ADAMTS18",1,130,"非编码区",14200,"0.5400=27/50","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32629A(745)v733",122,62,0.5082,"32629A","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",615458,5,3,8,1,"ADAMTS18",1,130,"非同义",12220,"0.5194=67/129","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32629A(745)v734",108,108,1,"32629A","ADAMTS18","chr16:77353973","c.2305C>A(exon16)","p.L769I","rs9930984",0.63,0.88,0.86,0.89,0.88,0.88,"纯合","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",615458,5,1,8,1,"ADAMTS18",1,130,"非同义",12220,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32629A(745)v735",105,56,0.5333,"32629A","ADAMTS18","chr16:77359768","c.2027T>C(exon13)","p.V676A","rs201322928",0.0002,0.0024,0,0.0049,0.00073,3.5E-4,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,2,3,8,1,"ADAMTS18",1,130,"非同义",12110,"0.5526=63/114","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32629A(745)v736",144,144,1,"32629A","ADAMTS18","chr16:77359919","c.1876T>A(exon13)","p.L626I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"纯合","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",615458,5,1,8,1,"ADAMTS18",1,130,"非同义",12220,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32629A(745)v737",130,129,0.9923,"32629A","ADAMTS18","chr16:77389956","c.1341T>C(exon9)","p.D447D","rs8059275",0.88,0.88,0.87,0.9,0.92,0.91,"纯合","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",615458,5,1,8,1,"ADAMTS18",1,130,"同义",13203,"0.9864=145/147","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32629A(745)v738",68,68,1,"32629A","ADAMTS18","chr16:77401545","c.571T>C(exon4)","p.Y191H","rs11643211",0.37,0.56,0.57,0.55,0.58,0.57,"纯合","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",615458,5,1,8,1,"ADAMTS18",1,130,"非同义",12220,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",170692,"16q23","NM_199355"]
["32629A(745)v739",182,81,0.4451,"32629A","ADAMTS19","chr5:128844838","c.798A>G(exon3)","p.T266T","rs28630040",0.13,0.084,0.1,0.063,0.083,0.077,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS19",1,160,"同义",13203,"0.4698=101/215","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638"]
["32629A(745)v740",273,273,1,"32629A","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",{"$nulls":4},5,null,4,0,"ADAMTS19",1,160,"非同义",12220,"1.0000=306/306","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638"]
["32629A(745)v741",76,76,1,"32629A","ADAMTS19","chr5:129072943","c.*32G>T(exon23)","非编码区","rs1465686",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS19",1,160,"非编码区",14200,"1.0000=98/98","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638"]
["32629A(745)v742",3,3,1,"32629A","ADAMTS19","chr5:129073197","c.*286T>G(exon23)","非编码区","rs1549892",0.95,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS19",1,160,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",171019,"5q23.3","NM_133638"]
["32629A(745)v743",4,2,0.5,"32629A","ADAMTS1","chr21:28209667","c.*231T>C(exon9)","非编码区","rs13615",0.18,0.52,0.54,0.5,0.58,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,110,"非编码区",14200,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32629A(745)v744",94,63,0.6702,"32629A","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",{"$nulls":4},5,null,6,0,"ADAMTS1",1,110,"同义",13203,"0.7182=79/110","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32629A(745)v745",11,8,0.7273,"32629A","ADAMTS1","chr21:28216595","c.679G>C(exon1)","p.A227P","rs428785",0.69,0.44,0.43,0.44,0.48,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,110,"非同义",12220,"0.7273=8/11","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32629A(745)v746",17,8,0.4706,"32629A","ADAMTS1","chr21:28216674","c.600C>G(exon1)","p.V200V","rs409630",0.18,0.28,0.29,0.27,0.29,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,110,"同义",13203,"0.4444=8/18","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32629A(745)v747",21,9,0.4286,"32629A","ADAMTS1","chr21:28216692","c.582C>A(exon1)","p.V194V","rs445784",0.68,0.44,0.43,0.44,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADAMTS1",1,110,"同义",13203,"0.4091=9/22","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32629A(745)v748",12,6,0.5,"32629A","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",{"$nulls":4},5,null,6,0,"ADAMTS1",1,110,"同义",13203,"0.5000=6/12","位于基因组单拷贝区域+DNA结构正常",9510,"21q21.2","NM_006988"]
["32629A(745)v749",74,40,0.5405,"32629A","ADAMTS20","chr12:43819298","c.4284+19C>T(exon28)","非编码区","rs10785430",0.66,0.88,0.89,0.86,0.86,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS20",1,170,"非编码区",16203,"0.5385=42/78","位于基因组单拷贝区域+DNA结构正常",80070,"12q12","NM_025003"]
["32629A(745)v750",295,145,0.4915,"32629A","ADAMTS20","chr12:43860526","c.1296T>C(exon9)","p.P432P","rs11182088",0.43,0.79,0.82,0.77,0.76,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS20",1,170,"同义",13203,"0.4827=167/346","位于基因组单拷贝区域+DNA结构正常",80070,"12q12","NM_025003"]
["32629A(745)v751",110,54,0.4909,"32629A","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",225410,5,3,7,1,"ADAMTS2",0.98,57,"非同义",12220,"0.5207=63/121","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32629A(745)v752",15,7,0.4667,"32629A","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",225410,5,3,7,1,"ADAMTS2",0.98,57,"非编码区",16202,"0.5000=9/18","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32629A(745)v753",59,24,0.4068,"32629A","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",225410,5,3,7,1,"ADAMTS2",0.98,57,"非编码区",16202,"0.3692=24/65","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32629A(745)v754",40,20,0.5,"32629A","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",225410,5,3,7,1,"ADAMTS2",0.98,57,"非编码区",16203,"0.4884=21/43","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32629A(745)v755",39,18,0.4615,"32629A","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",225410,5,3,7,1,"ADAMTS2",0.98,57,"同义",13203,"0.4419=19/43","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32629A(745)v756",31,31,1,"32629A","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",225410,5,1,7,1,"ADAMTS2",0.98,57,"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"]
["32629A(745)v757",38,22,0.5789,"32629A","ADAMTS2","chr5:178634672","c.733G>A(exon4)","p.V245I","rs398829",0.43,0.63,0.68,0.59,0.64,0.66,"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",225410,5,3,7,1,"ADAMTS2",0.98,57,"非同义",12220,"0.6098=25/41","位于基因组单拷贝区域+DNA结构正常",9509,"5qter","NM_014244"]
["32629A(745)v758",171,171,1,"32629A","ADAMTS3","chr4:73414286","c.413G>A(exon3)","p.R138K","rs788908",0.64,0.66,0.65,0.68,0.7,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS3",1,150,"非同义",12220,"1.0000=197/197","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243"]
["32629A(745)v759",116,116,1,"32629A","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,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ADAMTS3",1,150,"非编码区",2500,"1.0000=122/122","位于基因组单拷贝区域+DNA结构正常",9508,"4q13.3","NM_014243"]
["32629A(745)v760",76,38,0.5,"32629A","ADAMTS4","chr1:161163037","c.1877A>G(exon7)","p.Q626R","rs4233367",0.71,0.88,0.89,0.88,0.91,0.9,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19064571,{"$nulls":3},5,null,3,0,"ADAMTS4",1,51,"非同义",12220,"0.5244=43/82","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099"]
["32629A(745)v761",70,39,0.5571,"32629A","ADAMTS4","chr1:161163633","c.1549-17G>A(exon6)","非编码区","rs3813622",null,0.89,0.89,0.89,0.91,0.9,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"ADAMTS4",1,51,"非编码区",16302,"0.5476=46/84","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099"]
["32629A(745)v762",24,11,0.4583,"32629A","ADAMTS4","chr1:161168004","c.414G>A(exon1)","p.S138S","rs33941127",0.37,0.47,0.46,0.47,0.54,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS4",1,51,"同义",13203,"0.4800=12/25","位于基因组单拷贝区域+DNA结构正常",9507,"1q21-q23","NM_005099"]
["32629A(745)v763",33,23,0.697,"32629A","ADAMTS7","chr15:79054900","c.4748G>C(exon23)","p.G1583A","rs7495616",0.67,0.59,0.6,0.57,0.56,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"非同义",12220,"0.7027=26/37","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v764",24,16,0.6667,"32629A","ADAMTS7","chr15:79054918-79054919","c.4741-12(exon23)_c.4741-11(exon23)insC","非编码区","rs74316827",0.099,0.35,0.33,0.36,0.23,0.37,"杂合","未知","内含子突变",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"非编码区",2500,"0.6296=17/27","位于基因组多拷贝区域+简单重复结构",11173,"15q24.2","NM_014272"]
["32629A(745)v765",26,4,0.1538,"32629A","ADAMTS7","chr15:79058013","c.4240G>A(exon19)","p.G1414S","rs2929155",0.67,0.58,0.6,0.57,0.51,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"非同义",12220,"0.2000=6/30","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v766",13,4,0.3077,"32629A","ADAMTS7","chr15:79058307","c.3946T>A(exon19)","p.S1316T","rs200436984",{"$nulls":4},0.39,0.025,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,19,0,"ADAMTS7",1,47,"非同义",12320,"0.3077=4/13","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v767",13,4,0.3077,"32629A","ADAMTS7","chr15:79058317","c.3936G>A(exon19)","p.P1312P","rs746840767",{"$nulls":4},0.4,0.021,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"同义",13303,"0.3077=4/13","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v768",14,3,0.2143,"32629A","ADAMTS7","chr15:79058339","c.3914T>G(exon19)","p.V1305G","rs199823022",{"$nulls":4},0.37,0.015,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,19,0,"ADAMTS7",1,47,"非同义",12320,"0.2143=3/14","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v769",22,5,0.2273,"32629A","ADAMTS7","chr15:79058445","c.3808C>T(exon19)","p.P1270S","rs76784555",{"$nulls":4},0.26,0.26,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,19,0,"ADAMTS7",1,47,"非同义",12310,"0.2000=5/25","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v770",21,21,1,"32629A","ADAMTS7","chr15:79058572","c.3681A>C(exon19)","p.R1227R","rs1809421",null,0.98,0.99,0.98,0.98,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"同义",13303,"1.0000=22/22","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v771",32,32,1,"32629A","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",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"1.0000=38/38","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v772",32,18,0.5625,"32629A","ADAMTS7","chr15:79059013","c.3240C>T(exon19)","p.P1080P","rs139248514",8.6E-3,0.053,0.062,0.044,0.052,0.037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"同义",13103,"0.5641=22/39","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v773",26,14,0.5385,"32629A","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",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"非编码区",16202,"0.5556=15/27","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v774",28,28,1,"32629A","ADAMTS7","chr15:79065562","c.2011-17T>C(exon14)","非编码区","rs8036224",null,1,1,1,1,1,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"非编码区",16302,"1.0000=29/29","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v775",37,15,0.4054,"32629A","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",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"0.4103=16/39","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v776",31,18,0.5806,"32629A","ADAMTS7","chr15:79066653","c.1877-11T>C(exon13)","非编码区","rs57708073",0.34,0.41,0.4,0.42,0.42,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"非编码区",16202,"0.5758=19/33","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v777",52,17,0.3269,"32629A","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,19,0,"ADAMTS7",1,47,"非编码区",16303,"0.3091=17/55","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v778",39,16,0.4103,"32629A","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",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"0.4222=19/45","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v779",33,7,0.2121,"32629A","ADAMTS7","chr15:79083120","c.920C>T(exon6)","p.T307M","rs2127898",{"$nulls":4},0.38,0.32,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,19,0,"ADAMTS7",1,47,"非同义",12310,"0.2368=9/38","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v780",37,37,1,"32629A","ADAMTS7","chr15:79089007","c.744A>G(exon4)","p.V248V","rs3743057",0.79,0.88,0.87,0.88,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v781",23,11,0.4783,"32629A","ADAMTS7","chr15:79092603","c.387C>T(exon2)","p.H129H","rs6495329",0.41,0.34,0.33,0.36,0.4,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"0.4483=13/29","位于基因组多拷贝区域+DNA结构正常",11173,"15q24.2","NM_014272"]
["32629A(745)v782",13,11,0.8462,"32629A","ADAMTS8","chr11:130275346","c.*107C>T(exon9)","非编码区","rs2242312",0.16,0.24,0.25,0.23,0.3,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS8",1,49,"非编码区",14200,"0.8235=14/17","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037"]
["32629A(745)v783",52,52,1,"32629A","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",{"$nulls":4},5,null,4,0,"ADAMTS8",1,49,"非同义",12220,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037"]
["32629A(745)v784",4,4,1,"32629A","ADAMTS8","chr11:130297948","c.234G>C(exon1)","p.E78D","rs7927048",0.47,0.63,0.63,0.64,0.55,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS8",1,49,"非同义",12220,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",11095,"11q25","NM_007037"]
["32629A(745)v789",121,59,0.4876,"32629A","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",{"$nulls":4},5,null,8,0,"ADAMTSL1",1,90,"同义",13203,"0.4815=65/135","位于基因组单拷贝区域+DNA结构正常",92949,"9p21.3","NM_001040272"]
["32629A(745)v833",84,83,0.9881,"32629A","ADAT1","chr16:75646576","c.608C>A(exon7)","p.T203N","rs3743599",0.27,0.74,0.73,0.75,0.74,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAT1",1,94,"非同义",12220,"0.9884=85/86","位于基因组单拷贝区域+DNA结构正常",23536,"16q23.1","NM_012091"]
["32629A(745)v890",131,65,0.4962,"32629A","ADGB","chr6:147054410-147054411","c.2656+19(exon21)_c.2656+20(exon21)insA","非编码区","rs67991595",0.55,0.63,0.63,0.64,0.6,0.63,"杂合","未知","内含子突变",{"$nulls":4},4,null,4,0,"ADGB",1,220,"非编码区",2500,"0.5033=76/151","位于基因组单拷贝区域+DNA结构正常",79747,"6q24.3","NM_024694"]
["32629A(745)v903",146,73,0.5,"32629A","ADH6","chr4:100128753","c.829-15A>G(exon7)","非编码区","rs4147545",0.57,0.91,0.92,0.91,0.85,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18996923;19193628",{"$nulls":3},5,null,2,0,"ADH6",1,130,"非编码区",16202,"0.5033=77/153","位于基因组单拷贝区域+DNA结构正常",130,"4q23","NM_001102470"]
["32629A(745)v959",26,26,1,"32629A","AEN","chr15:89169858","c.418A>G(exon2)","p.N140D","rs8027765",0.76,0.77,0.79,0.76,0.81,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AEN",1,47,"非同义",12220,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",64782,"15q26.1","NM_022767"]
["32629A(745)v1008",153,153,1,"32629A","AGAP6","chr10:51748684","c.209G>A(exon1)","p.R70Q","rs61848260",0.5,0.35,0.31,0.39,null,0.4,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AGAP6",1,180,"非同义",12220,"1.0000=175/175","位于基因组多拷贝区域+DNA结构正常",414189,"10q11.23","NM_001077665"]
["32629A(745)v1027",69,26,0.3768,"32629A","AGFG1","chr2:228398422","c.1044A>G(exon8)","p.A348A","rs13015491",0.069,0.13,0.15,0.11,0.091,0.096,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AGFG1",1,140,"同义",13203,"0.3784=28/74","位于基因组单拷贝区域+DNA结构正常",3267,"2q36.3","NM_001135187"]
["32629A(745)v1085",65,31,0.4769,"32629A","AHNAK2","chr14:105405942","c.15846C>T(exon7)","p.L5282L","rs28454709",0.55,0.4,0.44,0.35,0.4,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,70,0,"AHNAK2",1,200,"同义",13203,"0.4857=34/70","位于基因组单拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420"]
["32629A(745)v1095",248,124,0.5,"32629A","AHNAK2","chr14:105408955","c.12833T>C(exon7)","p.V4278A","rs2819422",0.58,0.4,0.44,0.35,0.4,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,70,0,"AHNAK2",1,200,"非同义",12220,"0.4868=147/302","位于基因组多拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420"]
["32629A(745)v1152",79,28,0.3544,"32629A","AHNAK2","chr14:105420215","c.1573A>G(exon7)","p.T525A","rs2278607",0.2,0.28,0.3,0.26,0.27,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,70,0,"AHNAK2",1,200,"非同义",12220,"0.3636=32/88","位于基因组单拷贝区域+DNA结构正常",113146,"14q32.33","NM_138420"]
["32629A(745)v1173",160,72,0.45,"32629A","AIFM1","chrX:129283520","c.273T>C(exon3)","p.D91D","rs1139851",null,0.21,0.22,0.21,0.16,0.18,"杂合","未知","预测范围之外的同义突变",null,"联合氧化磷酸化缺陷6型","XR",300816,4,3,1,2,"AIFM1",1,140,"同义",13303,"0.4667=84/180","位于基因组单拷贝区域+DNA结构正常",9131,"Xq26.1","NM_001130847"]
["32629A(745)v1218",129,129,1,"32629A","AK7","chr14:96922752","c.1167C>G(exon11)","p.N389K","rs2369679",0.88,0.95,0.97,0.93,0.96,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AK7",1,160,"非同义",12220,"1.0000=138/138","位于基因组单拷贝区域+DNA结构正常",122481,"14q32.2","NM_152327"]
["32629A(745)v1275",143,143,1,"32629A","AKAP6","chr14:33292743","c.5724A>C(exon13)","p.G1908G","rs2239647",0.71,0.73,0.68,0.77,0.73,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AKAP6",1,120,"同义",13203,"1.0000=167/167","位于基因组单拷贝区域+DNA结构正常",9472,"14q12","NM_004274"]
["32629A(745)v1290",223,223,1,"32629A","AKAP9","chr7:91714911","c.8935C>T(exon36)","p.P2979S","rs1063242",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23861362,"先天性长Q-T间期综合征11型",null,611820,5,1,13,1,"AKAP9",1,170,"非同义",12220,"1.0000=272/272","位于基因组单拷贝区域+DNA结构正常",10142,"7q21-q22","NM_005751",null,"PRO2979SER|Benign;Likely benign|OMIM:115000|NA|criteria provided, multiple submitters, no conflicts|PubMed:23861362;rs1063242|Benign;Likely benign|OMIM:115000|NA|criteria provided, multiple submitters, no conflicts|PubMed:23861362"]
["32629A(745)v1355",80,50,0.625,"32629A","ALCAM","chr3:105243389","c.*29T>C(exon3)","非编码区","rs9875739",0.12,0.15,0.15,0.14,0.15,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ALCAM",1,180,"非编码区",14200,"0.6413=59/92","位于基因组单拷贝区域+DNA结构正常",214,"3q13.1","NM_001243283"]
["32629A(745)v1401",7,7,1,"32629A","ALDH4A1","chr1:19199221","c.*118G>A(exon15)","非编码区","rs11740",0.47,0.68,0.68,0.68,0.68,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18843385,"高脯氨酸血症2型","AR",239510,5,1,6,1,"ALDH4A1",1,49,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",8659,"1p36","NM_003748"]
["32629A(745)v1420",232,230,0.9914,"32629A","ALG11","chr13:52603194","c.*468G>T(exon4)","非编码区","rs3742289",0.58,0.6,0.63,0.56,0.56,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性糖基化病1P型","AR",613661,5,1,3,1,"ALG11",1,120,"非编码区",14200,"0.9924=262/264","位于基因组单拷贝区域+DNA结构正常",440138,"13q14.2","NM_001004127"]
["32629A(745)v1484",95,53,0.5579,"32629A","ALOXE3","chr17:7999957","c.2520C>T(exon16)","p.S840S","rs3809881",0.42,0.62,0.6,0.66,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传先天性鱼鳞病3型","AR",606545,5,3,3,1,"ALOXE3",1,75,"同义",13203,"0.5340=55/103","位于基因组多拷贝区域+DNA结构正常",59344,"17p13.1","NM_001165960"]
["32629A(745)v1491",161,76,0.472,"32629A","ALPK2","chr18:56196451","c.5373G>A(exon6)","p.K1791K","rs7236563",0.37,0.21,0.19,0.23,0.21,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,31,0,"ALPK2",1,84,"同义",13203,"0.4835=88/182","位于基因组单拷贝区域+DNA结构正常",115701,"18q21.31","NM_052947"]
["32629A(745)v1540",168,71,0.4226,"32629A","ALPP","chr2:233245958","c.1193-3C>A(exon10)","非编码区","rs708",{"$nulls":4},0.043,0.046,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,4,0,"ALPP",1,140,"非编码区",16301,"0.4255=80/188","位于基因组多拷贝区域+DNA结构正常",250,"2q37","NM_001632"]
["32629A(745)v1579",21,21,1,"32629A","AMIGO2","chr12:47471037","c.*180T>G(exon2)","非编码区","rs854889",0.9,0.78,0.77,0.78,0.75,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AMIGO2",1,100,"非编码区",14200,"1.0000=21/21","位于基因组单拷贝区域+DNA结构正常",347902,"12q13.11","NM_181847"]
["32629A(745)v1604",94,49,0.5213,"32629A","AMZ2","chr17:66246416","c.88A>G(exon2)","p.N30D","rs3213690",0.8,0.78,0.8,0.76,0.78,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16251468,{"$nulls":3},5,null,2,0,"AMZ2",1,150,"非同义",12220,"0.4906=52/106","位于基因组多拷贝区域+DNA结构正常",51321,"17q24.2","NM_016627"]
["32629A(745)v1646",39,39,1,"32629A","ANKK1","chr11:113270374","c.1683C>T(exon8)","p.Y561Y","rs2734848",null,0.95,0.96,0.95,0.96,0.96,"纯合","未知","预测范围之外的同义突变",21095016,{"$nulls":3},4,null,7,0,"ANKK1",1,59,"同义",13303,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",255239,"11q23.2","NM_178510"]
["32629A(745)v1661",2,2,1,"32629A","ANKLE1","chr19:17398165","c.*804A>G(exon9)","非编码区","rs8100671",0.64,0.3,0.29,0.31,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ANKLE1",1,48,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",126549,"19p13.11","NM_152363"]
["32629A(745)v1722",99,28,0.2828,"32629A","ANKRD20A4","chr9:69423558","c.1854C>T(exon15)","p.S618S","rs199996482",{"$nulls":4},0.39,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,29,0,"ANKRD20A4",0.99,300,"同义",13303,"0.2991=32/107","位于基因组多拷贝区域+DNA结构正常",728747,"9q21.11","NM_001098805"]
["32629A(745)v1762",21,21,1,"32629A","ANKRD26","chr10:27389197","c.59A>G(exon1)","p.Q20R","rs7897309",0.94,1,1,1,0.93,1,"纯合","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,"ANKRD26",1,140,"非同义",12220,"1.0000=21/21","位于基因组单拷贝区域+DNA结构正常",22852,"10p12.1","NM_014915"]
["32629A(745)v1793",128,126,0.9844,"32629A","ANKRD31","chr5:74443132","c.2104G>A(exon14)","p.D702N","rs1422698",0.59,0.48,0.45,0.51,0.48,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ANKRD31",1,130,"非同义",12220,"0.9862=143/145","位于基因组单拷贝区域+DNA结构正常",256006,"5q13.3","NM_001164443"]
["32629A(745)v1854",1010,735,0.7277,"32629A","ANKRD36C","chr2:96517961","c.5638-17A>T(exon73)","非编码区","rs77337934",{"$nulls":6},"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,97,0,"ANKRD36C",null,null,"非编码区",16303,"0.7256=878/1210","位于基因组多拷贝区域+DNA结构正常",400986,"2q11.1","XM_001717763"]
["32629A(745)v1891",475,274,0.5768,"32629A","ANKRD36C","chr2:96525768","c.4226C>T(exon69)","p.T1409I","rs78780931",{"$nulls":5},0.42,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,97,0,"ANKRD36C",null,null,"非同义",12320,"0.5814=307/528","位于基因组多拷贝区域+DNA结构正常",400986,"2q11.1","XM_001717763"]
["32629A(745)v1929",251,117,0.4661,"32629A","ANKRD36C","chr2:96617106","c.1152T>G(exon13)","p.S384S","rs76943414",{"$nulls":5},0.43,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,97,0,"ANKRD36C",null,null,"同义",13303,"0.4635=127/274","位于基因组多拷贝区域+DNA结构正常",400986,"2q11.1","XM_001717763"]
["32629A(745)v1986",183,102,0.5574,"32629A","ANKRD7","chr7:117874610","c.294+11G>A(exon2)","非编码区","rs55759859",0.046,0.07,0.081,0.058,0.093,0.081,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"ANKRD7",1,170,"非编码区",16103,"0.5446=110/202","位于基因组单拷贝区域+DNA结构正常",56311,"7q31","NM_019644"]
["32629A(745)v2001",31,12,0.3871,"32629A","ANKS3","chr16:4751045","c.1210G>A(exon11)","p.A404T","rs863980",0.51,0.68,0.64,0.71,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ANKS3",1,51,"非同义",12220,"0.3750=12/32","位于基因组单拷贝区域+DNA结构正常",124401,"16p13.3","NM_133450"]
["32629A(745)v2037",22,22,1,"32629A","ANO8","chr19:17435884","c.2973A>G(exon17)","p.S991S","rs755123",0.62,0.26,0.24,0.28,0.31,0.26,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ANO8",0.97,39,"同义",13203,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",57719,"19p13.11","NM_020959"]
["32629A(745)v2107",90,49,0.5444,"32629A","AP1M1","chr19:16339715","c.1059C>T(exon10)","p.I353I","rs3752797",0.45,0.35,0.31,0.38,0.35,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"AP1M1",1,78,"同义",13203,"0.5648=61/108","位于基因组单拷贝区域+DNA结构正常",8907,"19p13.12","NM_001130524"]
["32629A(745)v2122",76,44,0.5789,"32629A","AP2S1","chr19:47342717","c.267+5G>A(exon3)","非编码区","rs312186",0.36,0.48,0.53,0.43,0.51,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"3型家族性低钙尿高钙血症","AD",600740,5,1,1,1,"AP2S1",1,70,"非编码区",16201,"0.5833=49/84","位于基因组单拷贝区域+DNA结构正常",1175,"19q13.2-q13.3","NM_004069"]
["32629A(745)v2158",352,352,1,"32629A","APC","chr5:112164561","c.1635G>A(exon15)","p.A545A","rs351771",0.67,0.8,0.78,0.81,0.81,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;16569251;18849522;20333795;24078348","家族性腺瘤性息肉病1型","AD",175100,5,1,7,5,"APC",0.98,130,"同义",13203,"1.0000=418/418","位于基因组单拷贝区域+DNA结构正常",324,"5q21-q22","NM_001127510",null,"rs351771|Benign;other|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v2169",137,59,0.4307,"32629A","APIP","chr11:34910433","c.208-17T>C(exon4)","非编码区","rs1977421",0.58,0.72,0.7,0.74,0.74,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"APIP",1,180,"非编码区",16202,"0.4258=66/155","位于基因组单拷贝区域+DNA结构正常",51074,"11p13","NM_015957"]
["32629A(745)v2224",97,97,1,"32629A","APOB","chr2:21232803","c.6937A>G(exon26)","p.I2313V","rs584542",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,"常染色体显性B型高胆固醇血症","AD",144010,5,1,6,2,"APOB",1,110,"非同义",12230,"1.0000=111/111","位于基因组单拷贝区域+DNA结构正常",338,"2p24-p23","NM_000384"]
["32629A(745)v2278",79,78,0.9873,"32629A","APPL2","chr12:105582245","c.1331-20T>C(exon17)","非编码区","rs1196852",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",{"$nulls":4},5,null,7,0,"APPL2",1,160,"非编码区",16202,"0.9878=81/82","位于基因组单拷贝区域+DNA结构正常",55198,"12q24.1","NM_001251905"]
["32629A(745)v2288",85,37,0.4353,"32629A","AQP10","chr1:154295592","c.367C>T(exon3)","p.H123Y","rs6685323",0.29,0.16,0.13,0.19,0.19,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18505370,{"$nulls":3},5,null,2,0,"AQP10",1,90,"非同义",12220,"0.4396=40/91","位于基因组单拷贝区域+DNA结构正常",89872,"1q21.3","NM_080429"]
["32629A(745)v2353",101,56,0.5545,"32629A","ARFGEF2","chr20:47569226","c.424-16C>T(exon5)","非编码区","rs41304647",0.054,0.082,0.086,0.078,null,0.068,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","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",608097,5,3,4,1,"ARFGEF2",1,130,"非编码区",16202,"0.5625=63/112","位于基因组单拷贝区域+DNA结构正常",10564,"20q13.13","NM_006420",null,"rs41304647|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v2368",190,91,0.4789,"32629A","ARHGAP18","chr6:129927014","c.1365+8T>C(exon10)","非编码区","rs3813366",0.5,0.48,0.48,0.49,0.47,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ARHGAP18",1,180,"非编码区",16203,"0.5069=110/217","位于基因组单拷贝区域+DNA结构正常",93663,"6q22.33","NM_033515"]
["32629A(745)v2413",154,154,1,"32629A","ARHGAP31","chr3:119118104","c.1065A>G(exon9)","p.V355V","rs4688001",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Adams-Oliver 综合征1型","AD",100300,5,1,5,1,"ARHGAP31",1,97,"同义",13203,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",57514,"3q13.33","NM_020754"]
["32629A(745)v2485",82,82,1,"32629A","ARHGEF18","chr19:7506668","c.655+17T>G(exon2)","非编码区","rs2287909",0.37,0.41,0.43,0.38,0.42,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ARHGEF18",1,57,"非编码区",16203,"1.0000=91/91","位于基因组单拷贝区域+DNA结构正常",23370,"19p13.3","NM_001130955"]
["32629A(745)v2500",29,19,0.6552,"32629A","ARHGEF25","chr12:58005682","c.5G>A(exon1)","p.R2Q","rs60586224",0.2,0.2,0.19,0.2,0.22,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ARHGEF25",1,70,"非同义",12220,"0.7059=24/34","位于基因组单拷贝区域+DNA结构正常",115557,"12q13.3","NM_182947"]
["32629A(745)v2561",110,52,0.4727,"32629A","ARID4A","chr14:58838701","c.3768C>T(exon24)","p.C1256C","rs1051861",0.53,0.49,0.54,0.45,0.5,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ARID4A",1,190,"同义",13203,"0.4622=55/119","位于基因组单拷贝区域+DNA结构正常",5926,"14q23.1","NM_002892"]
["32629A(745)v2573",46,20,0.4348,"32629A","ARL1","chr12:101790373","c.337-18A>G(exon5)","非编码区","rs73159756",0.21,0.4,0.37,0.43,0.38,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ARL1",1,180,"非编码区",16202,"0.4118=21/51","位于基因组单拷贝区域+DNA结构正常",400,"12q23.2","NM_001177"]
["32629A(745)v2628",48,48,1,"32629A","ARPC2","chr2:219103580","c.455+7A>G(exon6)","非编码区","rs10169718",0.43,0.58,0.6,0.56,0.59,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ARPC2",1,130,"非编码区",16203,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",10109,"2q36.1","NM_152862"]
["32629A(745)v2687",168,168,1,"32629A","ASAH1","chr8:17918934","c.737T>C(exon10)","p.V246A","rs10103355",0.85,0.83,0.84,0.83,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脊髓性肌萎缩症伴进行性肌阵挛癫痫","AR",159950,5,1,2,2,"ASAH1",1,180,"非同义",12220,"1.0000=192/192","位于基因组单拷贝区域+DNA结构正常",427,"8p22","NM_177924"]
["32629A(745)v2701",149,149,1,"32629A","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",{"$nulls":4},5,null,2,0,"ASB13",1,79,"非编码区",14200,"1.0000=168/168","位于基因组单拷贝区域+DNA结构正常",79754,"10p15.1","NM_024701"]
["32629A(745)v2763",81,81,1,"32629A","ASIC2","chr17:32483270","c.282G>C(exon1)","p.L94L","rs2228989",0.23,0.35,0.32,0.38,0.35,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ASIC2",1,69,"同义",13203,"1.0000=93/93","位于基因组单拷贝区域+DNA结构正常",40,"17q12","NM_001094"]
["32629A(745)v2776",23,23,1,"32629A","ASPG","chr14:104561998","c.429+5T>C(exon4)","非编码区","rs1770983",0.81,0.89,0.91,0.87,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ASPG",1,48,"非编码区",16202,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",374569,"14q32.33","NM_001080464"]
["32629A(745)v2826",145,145,1,"32629A","ASXL3","chr18:31320229","c.2861A>G(exon11)","p.N954S","rs2282632",0.7,0.9,0.9,0.91,0.92,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Bainbridge-Ropers综合征","AD",615485,5,1,3,1,"ASXL3",1,130,"非同义",12220,"1.0000=160/160","位于基因组单拷贝区域+DNA结构正常",80816,"18q11","NM_030632"]
["32629A(745)v2885",118,48,0.4068,"32629A","ATG16L1","chr2:234183368","c.898A>G(exon9)","p.T300A","rs2241880",0.4,0.38,0.37,0.38,0.36,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24553140;17200669;17068223;17435756;17447842","炎性肠病10型",null,611081,5,2,3,1,"ATG16L1",1,130,"非同义",11200,"0.4254=57/134","位于基因组单拷贝区域+DNA结构正常",55054,"2q37.1","NM_030803","rs2241880|\"Crohn's_disease_increased_risk_association_with\"|17200669;THR281ALA|\"Crohn's_disease_increased_risk_association_with\"|17200669","THR300ALA|Benign;risk factor|NA|OMIM:610767.0001|criteria provided, single submitter|PubMed:24553140;rs2241880|Benign;risk factor|NA|OMIM:610767.0001|criteria provided, single submitter|PubMed:24553140","THR300ALA|611081|610767.0001.1"]
["32629A(745)v2901",33,33,1,"32629A","ATG9A","chr2:220089590-220089591","c.517-15(exon8)_c.517-14(exon8)insC","非编码区","rs397840291",null,0.84,0.83,0.84,0.59,0.84,"纯合","未知","内含子突变",{"$nulls":4},4,null,3,0,"ATG9A",1,71,"非编码区",2500,"1.0000=34/34","位于基因组单拷贝区域+DNA结构正常",79065,"2q35","NM_001077198"]
["32629A(745)v2958",55,28,0.5091,"32629A","ATP12A","chr13:25265139","c.837T>C(exon8)","p.V279V","rs2071490",0.3,0.47,0.44,0.49,0.47,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ATP12A",1,110,"同义",13203,"0.5345=31/58","位于基因组单拷贝区域+DNA结构正常",479,"13q12.12|13q12.1-q12.3","NM_001185085"]
["32629A(745)v2973",192,192,1,"32629A","ATP13A4","chr3:193209178","c.543A>G(exon6)","p.I181M","rs6788448",0.47,0.45,0.5,0.4,0.41,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ATP13A4",1,150,"非同义",12220,"1.0000=221/221","位于基因组单拷贝区域+DNA结构正常",84239,"3q29","NM_032279"]
["32629A(745)v3031",37,18,0.4865,"32629A","ATP5A1","chr18:43669980","c.160-18A>G(exon4)","非编码区","rs2298787",0.32,0.046,0.038,0.053,0.068,0.051,"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22型","AR",616045,5,3,4,2,"ATP5A1",1,140,"非编码区",16202,"0.5250=21/40","位于基因组单拷贝区域+DNA结构正常",498,"18q21","NM_001257335"]
["32629A(745)v3073",55,28,0.5091,"32629A","ATP6V1B1","chr2:71163086","c.2T>C(exon1)","p.M1T","rs11681642",0.37,0.37,0.39,0.35,0.38,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"远端肾小管酸中毒伴神经性耳聋","AR",267300,5,3,5,1,"ATP6V1B1",1,66,"起始密码子",18220,"0.4918=30/61","位于基因组单拷贝区域+DNA结构正常",525,"2p13.1","NM_001692",null,"MET1THR|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32629A(745)v3088",26,11,0.4231,"32629A","ATP6V1C2","chr2:10924584","c.*1195C>A(exon14)","非编码区","rs148675677",2.8E-3,0.0024,0,0.0049,0.011,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,10,0,"ATP6V1C2",1,130,"非编码区",14100,"0.4839=15/31","位于基因组单拷贝区域+DNA结构正常",245973,"-","NM_001039362"]
["32629A(745)v3141",16,16,1,"32629A","ATRAID","chr2:27435374","c.-177G>A(exon1)","非编码区","rs11608",0.54,0.86,0.84,0.88,0.83,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ATRAID",1,87,"非编码区",14200,"1.0000=16/16","位于基因组单拷贝区域+DNA结构正常",51374,"2p23.3","NM_016085"]
["32629A(745)v3150",149,69,0.4631,"32629A","ATR","chr3:142212161-142212161","c.5899-8(exon35)delT","非编码区","rs538488507",null,0.014,0.0095,0.019,0.012,0.014,"杂合","未知","内含子突变",null,"Seckel综合征1","AR",210600,4,3,6,2,"ATR",1,170,"非编码区",2500,"0.4602=81/176","位于基因组单拷贝区域+简单重复结构",545,"3q23","NM_001184"]
["32629A(745)v3200",105,105,1,"32629A","AXDND1","chr1:179347832","c.435T>C(exon5)","p.V145V","rs10798674",0.51,0.72,0.76,0.67,0.73,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"AXDND1",1,200,"同义",13203,"1.0000=115/115","位于基因组单拷贝区域+DNA结构正常",126859,"1q25.2","NM_144696"]
["32629A(745)v3254",11,6,0.5455,"32629A","B4GALNT1","chr12:58020360","c.*167T>C(exon11)","非编码区","rs35831868",0.17,0.17,0.15,0.19,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"痉挛性截瘫26","AR",609195,5,3,3,1,"B4GALNT1",1,68,"非编码区",14200,"0.5833=7/12","位于基因组单拷贝区域+DNA结构正常",2583,"12q13.3","NM_001478"]
["32629A(745)v3282",19,10,0.5263,"32629A","B9D1","chr17:19265952","c.83G>A(exon1)","p.R28K","rs2296978",0.028,0.075,0.086,0.063,0.073,0.15,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"Meckel综合征9型",null,614209,3,2,2,1,"B9D1",0.96,63,"非同义",12120,"0.5000=10/20","位于基因组单拷贝区域+DNA结构正常",27077,"17p11.2","NM_001243473"]
["32629A(745)v3322",366,129,0.3525,"32629A","BAGE2","chr21:11058227","c.213A>T(exon3)","p.T71T","rs2775343",{"$nulls":4},0.5,0.42,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,28,0,"BAGE2",1,450,"同义",13303,"0.3419=146/427","位于基因组多拷贝区域+DNA结构正常",85319,"21p","NM_182482"]
["32629A(745)v3383",24,24,1,"32629A","BARX1","chr9:96714429","c.*17G>T(exon4)","非编码区","rs2297835",0.073,0.16,0.19,0.14,0.14,0.15,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"BARX1",1,29,"非编码区",14200,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",56033,"9q12","NM_021570"]
["32629A(745)v3406",117,117,1,"32629A","BBS4","chr15:73002035","c.77-6G>A(exon3)","非编码区","rs8033604",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",12016587,"Bardet-biedl综合征4型","AR",615982,5,1,4,1,"BBS4",1,120,"非编码区",16202,"1.0000=139/139","位于基因组单拷贝区域+DNA结构正常",585,"15q22.3-q23","NM_033028"]
["32629A(745)v3449",2,2,1,"32629A","BCKDHB","chr6:81055413","c.*1892T>C(exon10)","非编码区","rs7740958",0.72,0.73,0.71,0.75,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"枫糖尿症IA型","AR",248600,5,1,4,1,"BCKDHB",1,190,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",594,"6q14.1","NM_183050"]
["32629A(745)v3462",41,12,0.2927,"32629A","BCL2L2","chr14:23777099","c.123G>A(exon3)","p.P41P","rs2231301",0.25,0.53,0.5,0.57,0.51,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"BCL2L2",1,59,"同义",13203,"0.2667=12/45","位于基因组单拷贝区域+DNA结构正常",599,"14q11.2-q12","NM_004050"]
["32629A(745)v3510",81,33,0.4074,"32629A","BCR","chr22:23632513","c.2708-13A>G(exon14)","非编码区","rs16802",0.31,0.072,0.071,0.073,0.068,0.06,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"急性淋巴细胞白血病（易感）",null,613065,5,2,13,2,"BCR",1,62,"非编码区",16202,"0.4286=39/91","位于基因组单拷贝区域+DNA结构正常",613,"22q11.23","NM_004327"]
["32629A(745)v3534",20,11,0.55,"32629A","BEGAIN","chr14:101005215","c.873A>G(exon6)","p.A291A","rs12893951",0.65,0.72,0.72,0.72,0.69,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"BEGAIN",1,34,"同义",13203,"0.5652=13/23","位于基因组单拷贝区域+DNA结构正常",57596,"14q32.2","NM_001159531"]
["32629A(745)v3563",83,83,1,"32629A","BHMT2","chr5:78373431","c.162C>T(exon2)","p.D54D","rs682985",0.49,0.6,0.6,0.61,0.63,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18457970;19493349;20458436",{"$nulls":3},5,null,1,0,"BHMT2",1,200,"同义",13203,"1.0000=92/92","位于基因组单拷贝区域+DNA结构正常",23743,"5q13","NM_017614"]
["32629A(745)v3618",96,26,0.2708,"32629A","BMP8A","chr1:39988084","c.878G>A(exon5)","p.R293H","rs6525",{"$nulls":4},0.43,0.42,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"BMP8A",1,76,"非同义",12320,"0.2667=28/105","位于基因组多拷贝区域+DNA结构正常",353500,"1p34.3","NM_181809"]
["32629A(745)v3635",30,14,0.4667,"32629A","BNIP2","chr15:59981590","c.50C>T(exon1)","p.P17L","rs754641",0.41,0.59,0.56,0.61,0.55,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"BNIP2",1,120,"非同义",12220,"0.4375=14/32","位于基因组单拷贝区域+DNA结构正常",663,"15q22.2","NM_004330"]
["32629A(745)v3678",10,3,0.3,"32629A","BRAT1","chr7:2578237","c.1932A>G(exon14)","p.R644R","rs4719552",0.46,0.38,0.4,0.35,0.35,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"新生儿致命性肌僵直和多重病灶型癫痫","AR",614498,5,3,6,1,"BRAT1",1,39,"同义",13203,"0.2727=3/11","位于基因组单拷贝区域+DNA结构正常",221927,"7p22.3","NM_152743"]
["32629A(745)v3720",2,2,1,"32629A","BRWD1","chr21:40685604","c.-187G>A(exon1)","非编码区","rs11910705",0.63,0.58,0.55,0.61,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"BRWD1",1,140,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",54014,"21q22.2","NM_033656"]
["32629A(745)v3735",12,9,0.75,"32629A","BSPRY","chr9:116132334","c.1121C>T(exon6)","p.T374I","rs3088235",0.13,0.14,0.14,0.14,0.11,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"BSPRY",1,67,"非同义",12220,"0.7500=9/12","位于基因组单拷贝区域+DNA结构正常",54836,"9q32","NM_017688"]
["32629A(745)v3773",199,198,0.995,"32629A","BTLA","chr3:112190137","c.469C>A(exon3)","p.R157S","rs2931761",0.99,1,1,1,1,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19585237,{"$nulls":3},5,null,3,0,"BTLA",1,130,"非同义",12230,"0.9956=224/225","位于基因组单拷贝区域+DNA结构正常",151888,"3q13.2","NM_181780"]
["32629A(745)v3808",69,46,0.6667,"32629A","C10orf113","chr10:21414892","c.328G>C(exon2)","p.D110H","rs625223",0.54,0.68,0.7,0.65,0.68,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C10orf113",null,null,"非同义",12210,"0.6951=57/82","位于基因组单拷贝区域+DNA结构正常",387638,"10p12.31","NM_001010896"]
["32629A(745)v3859",118,69,0.5847,"32629A","C11orf21","chr11:2321899","c.191+15G>A(exon2)","非编码区","rs2285568",0.057,0.055,0.062,0.049,0.048,0.073,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C11orf21",1,100,"非编码区",16203,"0.5833=77/132","位于基因组单拷贝区域+DNA结构正常",29125,"11p15.5","NM_001142946"]
["32629A(745)v3916",32,32,1,"32629A","C12orf54","chr12:48888763","c.*40+1A>G(exon8)","剪切位点","rs2705132",0.89,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"C12orf54",1,110,"剪切位点",16204,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",121273,"12q13.11","NM_152319"]
["32629A(745)v3961",9,9,1,"32629A","C14orf180","chr14:105055119-105055127","c.482(exon5)_c.*7(exon5)delGACGGGCAG","p.X161Xfs*1","rs569942489",0.6,0.71,0.75,0.66,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"C14orf180",1,52,"延长",2820,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",400258,"14q32.33","NM_001008404"]
["32629A(745)v3987",221,221,1,"32629A","C15orf41","chr15:36937405","c.148-19G>T(exon3)","非编码区","rs11073191",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性红细胞生成异常性贫血Ib型","AR",615631,5,1,4,1,"C15orf41",1,180,"非编码区",16202,"1.0000=262/262","位于基因组单拷贝区域+DNA结构正常",84529,"15q14","NM_001130010"]
["32629A(745)v4006",106,106,1,"32629A","C15orf57","chr15:40856989","c.-10G>A(exon1)","非编码区","rs3803354",0.86,0.91,0.91,0.9,0.89,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"C15orf57",1,75,"非编码区",14200,"1.0000=126/126","位于基因组单拷贝区域+DNA结构正常",90416,"15q15.1","NM_001080791"]
["32629A(745)v4048",82,37,0.4512,"32629A","C17orf104","chr17:42751607","c.*43C>T(exon8)","非编码区","rs6416902",0.87,0.88,0.88,0.87,0.87,0.85,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"C17orf104",1,120,"非编码区",14200,"0.4000=38/95","位于基因组单拷贝区域+DNA结构正常",284071,"17q21.31","NM_001145080"]
["32629A(745)v4119",6,6,1,"32629A","C19orf26","chr19:1231142","c.1112A>G(exon9)","p.H371R","rs8110590",0.65,0.99,0.99,1,0.97,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"C19orf26",1,26,"非同义",12220,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",255057,"19p13.3","NM_152769"]
["32629A(745)v4138",48,48,1,"32629A","C19orf48","chr19:51301395","c.311G>A(exon5)","p.G104E","rs4801853",0.33,0.68,0.67,0.68,0.65,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","20574445;18698046",{"$nulls":3},5,null,3,0,"C19orf48",1,57,"非同义",12210,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",84798,"19q13.33","NM_199249","GLY104GLU|\"Multiple_sclerosis_protection_association\"|20574445"]
["32629A(745)v4195",37,24,0.6486,"32629A","C1S","chr12:7178019","c.*64G>T(exon12)","非编码区","rs7183",null,0.096,0.095,0.097,0.098,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"C1s缺陷症",null,613783,3,2,2,1,"C1S",1,130,"非编码区",14300,"0.6889=31/45","位于基因组单拷贝区域+DNA结构正常",716,"12p13","NM_201442"]
["32629A(745)v4249",2,2,1,"32629A","C1orf210","chr1:43748132","c.*324T>C(exon3)","非编码区","rs1198976",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"C1orf210",1,76,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",149466,"1p34.2","NM_182517"]
["32629A(745)v4270",5,3,0.6,"32629A","C1orf74","chr1:209955848","c.*322T>G(exon2)","非编码区","rs651141",0.29,0.25,0.26,0.24,0.25,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"C1orf74",1,69,"非编码区",14200,"0.6000=3/5","位于基因组单拷贝区域+DNA结构正常",148304,"1q32.2","NM_152485"]
["32629A(745)v4327",75,75,1,"32629A","C21orf58","chr21:47731495","c.610-14C>T(exon6)","非编码区","rs13049522",0.24,0.54,0.5,0.58,0.56,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"C21orf58",1,53,"非编码区",16202,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",54058,"21q22.3","NM_058180"]
["32629A(745)v4374",15,15,1,"32629A","C2orf50","chr2:11273458-11273459","c.-3(exon1)_c.-2(exon1)insC","非编码区","rs61399885",0.18,0.055,0.048,0.063,0.02,0.037,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"C2orf50",1,51,"非编码区",2420,"1.0000=20/20","位于基因组单拷贝区域+DNA结构正常",130813,"2p25.1","NM_182500"]
["32629A(745)v4402",9,4,0.4444,"32629A","C3AR1","chr12:8211222","c.*111A>G(exon2)","非编码区","rs55776262",null,0.06,0.057,0.063,0.045,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"C3AR1",1,110,"非编码区",14300,"0.4444=4/9","位于基因组单拷贝区域+DNA结构正常",719,"12p13.31","NM_004054"]
["32629A(745)v4439",195,50,0.2564,"32629A","C4A","chr6:31964228","c.3527A>G(exon28)","p.N1176S","rs577596183",{"$nulls":4},0.036,0.07,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"系统性红斑狼疮","AD",152700,3,1,1,3,"C4A",1,100,"非同义",12320,"0.2785=61/219","位于基因组多拷贝区域+DNA结构正常",720,"6p21.3","NM_007293"]
["32629A(745)v4456",158,81,0.5127,"32629A","C4orf36","chr4:87809266","c.220+8C>T(exon3)","非编码区","rs777921329",{"$nulls":4},1E-3,0.0012,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,2,0,"C4orf36",1,160,"非编码区",16303,"0.5419=97/179","位于基因组单拷贝区域+DNA结构正常",132989,"4q21.3","NM_144645"]
["32629A(745)v4504",2,2,1,"32629A","C6orf120","chr6:170102504","c.-52T>C(exon1)","非编码区","rs72571025",0.2,0.62,0.64,0.61,0.44,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"C6orf120",1,30,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",387263,"6q27","NM_001029863"]
["32629A(745)v4523",108,47,0.4352,"32629A","C6orf170","chr6:121602795","c.1503G>A(exon14)","p.L501L","rs79788801",0.055,0.091,0.086,0.097,0.13,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"C6orf170",1,220,"同义",13203,"0.4274=53/124","位于基因组单拷贝区域+DNA结构正常",221322,"6q22.31","NM_152730"]
["32629A(745)v4579",161,89,0.5528,"32629A","C7","chr5:40949997","c.983-9C>T(exon9)","非编码区","rs1450656",0.66,0.66,0.64,0.68,0.68,0.74,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19344414,"补体成分7缺乏症",null,610102,5,2,5,1,"C7",1,180,"非编码区",16202,"0.5568=98/176","位于基因组单拷贝区域+DNA结构正常",730,"5p13","NM_000587"]
["32629A(745)v4636",65,65,1,"32629A","C9orf114","chr9:131588652","c.508+11A>G(exon6)","非编码区","rs2997914",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"C9orf114",1,62,"非编码区",16203,"1.0000=73/73","位于基因组单拷贝区域+DNA结构正常",51490,"9q34.11","NM_016390"]
["32629A(745)v4659",5,2,0.4,"32629A","C9orf173","chr9:140147823-140147851","c.1069(exon6)_c.1097(exon6)delATGCACCCTTCTGGCTGGCCAACCCTTCT","p.M357Mfs*28","rs544669429",0.0044,0.017,0.0095,0.024,null,0.025,"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",{"$nulls":4},1,null,3,0,"C9orf173",1,51,"移码",2110,"0.4000=2/5","位于基因组单拷贝区域+DNA结构正常",441476,"9q34.3","NM_001256699"]
["32629A(745)v4709",70,21,0.3,"32629A","CA6","chr1:9009406","c.164C>T(exon2)","p.T55M","rs2274327",0.27,0.25,0.28,0.22,0.22,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19721466;22198626;23652931",{"$nulls":3},5,null,6,0,"CA6",1,78,"非同义",12220,"0.2933=22/75","位于基因组单拷贝区域+DNA结构正常",765,"1p36.2","NM_001215"]
["32629A(745)v4724",66,35,0.5303,"32629A","CA9","chr9:35674347","c.391A>T(exon1)","p.R131W","rs77984049",0.061,0.15,0.14,0.16,0.13,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CA9",1,78,"非同义",12220,"0.5571=39/70","位于基因组单拷贝区域+DNA结构正常",768,"9p13.3","NM_001216"]
["32629A(745)v4768",82,82,1,"32629A","CACNA1C","chr12:2791130","c.5603C>T(exon45)","p.P1868L","rs10848683",0.67,0.62,0.64,0.61,0.62,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23861362;20031608","Brugada综合征3型",null,611875,5,1,4,2,"CACNA1C",1,88,"非同义",12220,"1.0000=95/95","位于基因组单拷贝区域+DNA结构正常",775,"12p13.3","NM_199460",null,"rs10848683|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23861362"]
["32629A(745)v4809",78,78,1,"32629A","CACNA1S","chr1:201020105","c.4113+7T>C(exon33)","非编码区","rs6702590",0.88,1,1,1,1,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","低血钾性周期性麻痹1型","AD",170400,5,1,8,3,"CACNA1S",1,90,"非编码区",16203,"1.0000=86/86","位于基因组单拷贝区域+DNA结构正常",779,"1q32","NM_000069",null,"rs6702590|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v4815",101,52,0.5149,"32629A","CACNA1S","chr1:201052283","c.1393+7C>T(exon10)","非编码区","rs3767512",0.055,0.2,0.18,0.22,0.17,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甲状腺毒性周期性麻痹症",null,188580,5,2,8,3,"CACNA1S",1,90,"非编码区",16203,"0.5185=56/108","位于基因组单拷贝区域+DNA结构正常",779,"1q32","NM_000069"]
["32629A(745)v4869",26,26,1,"32629A","CALHM3","chr10:105233110","c.895G>A(exon3)","p.D299N","rs2986035",0.74,0.79,0.76,0.83,0.72,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24851016,{"$nulls":3},5,null,1,0,"CALHM3",1,45,"非同义",12220,"1.0000=30/30","位于基因组单拷贝区域+DNA结构正常",119395,"10q24.33","NM_001129742"]
["32629A(745)v4898",3,3,1,"32629A","CAMKK2","chr12:121676666","c.*1836A>T(exon17)","非编码区","rs1653588",0.076,0.075,0.062,0.087,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CAMKK2",1,66,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",10645,"12q24.2","NM_006549"]
["32629A(745)v4944",49,28,0.5714,"32629A","CAPN13","chr2:31009977","c.198+17C>G(exon2)","非编码区","rs1915125",0.92,0.92,0.92,0.91,0.91,0.92,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CAPN13",1,130,"非编码区",16203,"0.5385=28/52","位于基因组单拷贝区域+DNA结构正常",92291,"2p22-p21","NM_144575"]
["32629A(745)v4992",60,33,0.55,"32629A","CARD11","chr7:2964011","c.1808-12G>A(exon15)","非编码区","rs41469246",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,"持续性多克隆B淋巴细胞增多症","AD",606445,5,1,11,2,"CARD11",1,61,"非编码区",16202,"0.5942=41/69","位于基因组单拷贝区域+DNA结构正常",84433,"7p22","NM_032415"]
["32629A(745)v5010",65,37,0.5692,"32629A","CARS2","chr13:111298392","c.1239T>C(exon12)","p.D413D","rs436462",0.47,0.44,0.45,0.43,0.42,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CARS2",1,92,"同义",13203,"0.6000=45/75","位于基因组单拷贝区域+DNA结构正常",79587,"13q34","NM_024537"]
["32629A(745)v5047",97,97,1,"32629A","CASP8","chr2:202151163","c.1482-19A>G(exon9)","非编码区","rs3769818",0.75,0.68,0.65,0.71,0.71,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","20564345;21283657;23973201","CASPASE8缺陷症/自身免疫性淋巴细胞增生综合征2B型","AR",607271,5,1,5,4,"CASP8",1,140,"非编码区",16202,"1.0000=108/108","位于基因组单拷贝区域+DNA结构正常",841,"2q33-q34","NM_001080125"]
["32629A(745)v5058",24,24,1,"32629A","CASR","chr3:121976253","c.492+19G>A(exon3)","非编码区","rs9869985",0.92,0.99,0.99,0.99,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;17320849","新生儿严重型甲状旁腺功能亢进症","AR",239200,5,1,6,4,"CASR",1,79,"非编码区",16203,"1.0000=25/25","位于基因组单拷贝区域+DNA结构正常",846,"3q13","NM_001178065",null,"rs9869985|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v5098",174,174,1,"32629A","CBLB","chr3:105422844","c.1581G>A(exon11)","p.T527T","rs2305037",0.75,0.76,0.74,0.79,0.77,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CBLB",1,160,"同义",13203,"1.0000=194/194","位于基因组单拷贝区域+DNA结构正常",868,"3q13.11","NM_170662"]
["32629A(745)v5129",53,53,1,"32629A","CBWD6","chr9:69247550","c.462C>T(exon5)","p.A154A","rs62555255",{"$nulls":4},0.83,0.54,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"CBWD6",1,390,"同义",13303,"1.0000=63/63","位于基因组多拷贝区域+DNA结构正常",644019,"9q21.11","NM_001085457"]
["32629A(745)v5159",41,41,1,"32629A","CCDC107","chr9:35660990","c.658A>G(exon5)","p.I220V","rs1339374",0.81,0.99,0.98,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CCDC107",1,51,"非同义",12220,"1.0000=44/44","位于基因组多拷贝区域+DNA结构正常",203260,"9p13.3","NM_174923"]
["32629A(745)v5220",145,65,0.4483,"32629A","CCDC144NL","chr17:20768816","c.578G>A(exon4)","p.C193Y","rs73298040",{"$nulls":4},0.48,0.062,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,28,0,"CCDC144NL",1,170,"非同义",12320,"0.4596=74/161","位于基因组多拷贝区域+DNA结构正常",339184,"17p11.2","NM_001004306"]
["32629A(745)v5248",13,13,1,"32629A","CCDC151","chr19:11531272","c.*231A>C(exon13)","非编码区","rs34081",0.96,0.89,0.86,0.92,0.88,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"原发性纤毛运动障碍30型","AR",616037,5,1,3,1,"CCDC151",1,46,"非编码区",14200,"1.0000=16/16","位于基因组单拷贝区域+DNA结构正常",115948,"19p13.2","NM_145045"]
["32629A(745)v5295",74,74,1,"32629A","CCDC168","chr13:103388370","c.14677G>A(exon4)","p.G4893S","rs9518825",0.23,0.42,0.42,0.42,0.41,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"CCDC168",1,97,"非同义",12220,"1.0000=90/90","位于基因组单拷贝区域+DNA结构正常",643677,"13q33.1","NM_001146197"]
["32629A(745)v5352",26,26,1,"32629A","CCDC28A","chr6:139114113","c.*173A>G(exon6)","非编码区","rs6570282",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CCDC28A",1,180,"非编码区",14200,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",25901,"6q23.1-q24.1","NM_015439"]
["32629A(745)v5367",172,89,0.5174,"32629A","CCDC38","chr12:96312686","c.106G>T(exon3)","p.V36F","rs12368787",0.067,0.019,0.029,0.0097,0.02,0.028,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CCDC38",1,170,"非同义",12220,"0.5178=102/197","位于基因组单拷贝区域+DNA结构正常",120935,"12q23.1","NM_182496"]
["32629A(745)v5404",31,16,0.5161,"32629A","CCDC57","chr17:80059596","c.2710A>G(exon17)","p.R904G","rs13949",0.39,0.13,0.12,0.13,0.12,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"CCDC57",1,52,"非同义",12210,"0.5000=17/34","位于基因组单拷贝区域+DNA结构正常",284001,"17q25.3","NM_198082"]
["32629A(745)v5484",36,11,0.3056,"32629A","CCDC88B","chr11:64110805","c.1209+8A>G(exon11)","非编码区","rs35692796",0.098,0.14,0.13,0.16,0.13,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CCDC88B",1,44,"非编码区",16203,"0.2895=11/38","位于基因组单拷贝区域+DNA结构正常",283234,"11q12.3","NM_032251"]
["32629A(745)v5496",133,132,0.9925,"32629A","CCDC91","chr12:28605426","c.940G>A(exon10)","p.V314M","rs10771427",0.67,0.47,0.47,0.48,0.46,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21298027,{"$nulls":3},5,null,1,0,"CCDC91",1,250,"非同义",12220,"0.9933=149/150","位于基因组单拷贝区域+DNA结构正常",55297,"12p11.22","NM_018318"]
["32629A(745)v5549",173,173,1,"32629A","CCL4","chr17:34431287","c.-12G>T(exon1)","非编码区","rs1049750",0.96,0.99,1,0.99,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CCL4",1,220,"非编码区",14200,"1.0000=197/197","位于基因组多拷贝区域+DNA结构正常",6351,"17q12","NM_002984"]
["32629A(745)v5588",46,21,0.4565,"32629A","CCRL2","chr3:46449978","c.408A>C(exon2)","p.G136G","rs11266744",0.34,0.56,0.58,0.54,0.53,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CCRL2",1,66,"同义",13203,"0.4565=21/46","位于基因组单拷贝区域+DNA结构正常",9034,"3p21","NM_003965"]
["32629A(745)v5618",122,55,0.4508,"32629A","CD101","chr1:117560929","c.1764C>A(exon6)","p.I588I","rs3736907",0.21,0.2,0.17,0.22,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CD101",1,100,"同义",13203,"0.4615=60/130","位于基因组单拷贝区域+DNA结构正常",9398,"1p13","NM_004258"]
["32629A(745)v5668",225,113,0.5022,"32629A","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",1,140,"非编码区",14100,"0.5057=134/265","位于基因组单拷贝区域+DNA结构正常",30835,"19p13","NM_021155"]
["32629A(745)v5696",25,25,1,"32629A","CD27","chr12:6560573","c.*15G>T(exon6)","非编码区","rs1059501",0.36,0.42,0.41,0.42,0.43,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"淋巴增生综合征-2","AR",615122,5,1,2,1,"CD27",1,55,"非编码区",14200,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",939,"12p13","NM_001242"]
["32629A(745)v5725",38,38,1,"32629A","CD3D","chr11:118209960","c.451-18T>G(exon5)","非编码区","rs2276424",0.63,0.79,0.83,0.74,0.74,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"免疫缺陷19型","AR",615617,5,1,1,1,"CD3D",1,94,"非编码区",16202,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",915,"11q23","NM_000732"]
["32629A(745)v5740",11,11,1,"32629A","CD47","chr3:107809798","c.-43G>A(exon1)","非编码区","rs445541",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CD47",1,210,"非编码区",14200,"1.0000=11/11","位于基因组单拷贝区域+DNA结构正常",961,"3q13.1-q13.2","NM_001777"]
["32629A(745)v5801",12,12,1,"32629A","CDC14A","chr1:100818286","c.-225A>T(exon1)","非编码区","rs527644",0.82,0.94,0.94,0.94,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CDC14A",1,170,"非编码区",14200,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",8556,"1p21","NM_003672"]
["32629A(745)v5848",157,28,0.1783,"32629A","CDC27","chr17:45234645","c.581C>G(exon6)","p.S194C","rs75990396",{"$nulls":4},0.46,0.012,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,59,0,"CDC27",1,450,"非同义",12320,"0.2829=58/205","位于基因组单拷贝区域+DNA结构正常",996,"17q21.32","NM_001114091"]
["32629A(745)v5872",26,15,0.5769,"32629A","CDC42BPA","chr1:227181838","c.*131A>C(exon36)","非编码区","rs3795449",0.27,0.18,0.19,0.17,0.17,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"CDC42BPA",1,170,"非编码区",14200,"0.5769=15/26","位于基因组单拷贝区域+DNA结构正常",8476,"1q42.11","NM_003607"]
["32629A(745)v5931",185,97,0.5243,"32629A","CDH12","chr5:22078686","c.100G>C(exon5)","p.E34Q","rs117878510",3.8E-3,0.029,0.024,0.034,0.027,0.023,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"CDH12",1,160,"非同义",12120,"0.5171=106/205","位于基因组单拷贝区域+DNA结构正常",1010,"5p14.3","NM_004061"]
["32629A(745)v5957",48,24,0.5,"32629A","CDH23","chr10:73498386","c.4341T>C(exon35)","p.D1447D","rs12218564",0.043,0.17,0.17,0.17,0.11,0.15,"杂合","未知","预测范围之外的同义突变",24033266,"尤塞氏综合症ID型","AR",601067,4,3,25,2,"CDH23",1,73,"同义",13103,"0.4737=27/57","位于基因组单拷贝区域+DNA结构正常",64072,"10q22.1","NM_022124",null,"rs12218564|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v5970",28,28,1,"32629A","CDH23","chr10:73574843","c.9873G>A(exon70)","p.T3291T","rs2290021",0.14,0.31,0.3,0.31,0.24,0.31,"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12型","AR",601386,5,1,25,2,"CDH23",1,73,"同义",13203,"1.0000=30/30","位于基因组单拷贝区域+DNA结构正常",64072,"10q22.1","NM_022124",null,"rs2290021|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v6023",114,47,0.4123,"32629A","CDK11A","chr1:1647814","c.459A>G(exon5)","p.E153E","rs72901775",{"$nulls":4},0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,12,0,"CDK11A",1,120,"同义",13303,"0.4130=57/138","位于基因组单拷贝区域+DNA结构正常",728642,"1p36.33","NM_024011"]
["32629A(745)v6038",122,64,0.5246,"32629A","CDK13","chr7:40027484","c.1498A>G(exon2)","p.T500A","rs3735135",0.17,0.33,0.26,0.41,0.35,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CDK13",1,120,"非同义",12220,"0.5143=72/140","位于基因组单拷贝区域+DNA结构正常",8621,"7p13","NM_003718"]
["32629A(745)v6088",48,24,0.5,"32629A","CDRT1","chr17:15492379","c.2169G>A(exon12)","p.V723V","rs562077936",0.006,0.0048,0.0048,0.0049,0.0024,0.0036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,10,0,"CDRT1",1,210,"同义",13103,"0.4902=25/51","位于基因组多拷贝区域+DNA结构正常",374286,"17p12","NM_006382"]
["32629A(745)v6105",118,48,0.4068,"32629A","CDSN","chr6:31084163","c.1229T>C(exon2)","p.L410S","rs3132554",0.65,0.72,0.77,0.67,0.73,0.7,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16642438,"稀毛症2型/单纯性头皮稀毛症1型","AD",146520,5,1,15,2,"CDSN",0.98,49,"非同义",12220,"0.4173=53/127","位于基因组单拷贝区域+DNA结构正常",1041,"6p21.3","NM_001264"]
["32629A(745)v6152",265,133,0.5019,"32629A","CEACAM6","chr19:42260569","c.126G>A(exon2)","p.P42P","rs1805223",0.26,0.27,0.27,0.27,0.27,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CEACAM6",1,250,"同义",13203,"0.5050=152/301","位于基因组多拷贝区域+DNA结构正常",4680,"19q13.2","NM_002483"]
["32629A(745)v6199",41,23,0.561,"32629A","CELF5","chr19:3224896","c.159G>C(exon1)","p.P53P","rs17852497",0.17,0.24,0.26,0.22,0.19,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CELF5",1,54,"同义",13203,"0.5682=25/44","位于基因组单拷贝区域+DNA结构正常",60680,"19p13","NM_001172673"]
["32629A(745)v6224",149,149,1,"32629A","CENPC1","chr4:68396525","c.331+8C>G(exon5)","非编码区","rs355477",0.7,0.82,0.77,0.87,0.82,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17052657,{"$nulls":3},5,null,7,0,"CENPC1",1,170,"非编码区",16203,"1.0000=172/172","位于基因组单拷贝区域+DNA结构正常",1060,"4q13.2","NM_001812"]
["32629A(745)v6278",43,22,0.5116,"32629A","CEP164","chr11:117282800","c.4299G>T(exon33)","p.S1433S","rs522885",0.91,0.84,0.79,0.89,0.85,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肾消耗病15型","AR",614845,5,3,6,1,"CEP164",1,82,"同义",13203,"0.5106=24/47","位于基因组单拷贝区域+DNA结构正常",22897,"11q23.3","NM_014956"]
["32629A(745)v6290",134,60,0.4478,"32629A","CEP290","chr12:88500847","c.2512A>G(exon24)","p.K838E","rs11104738",0.097,0.19,0.16,0.22,0.22,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","Leber先天性黑蒙10型",null,611755,5,2,3,5,"CEP290",1,170,"非同义",12220,"0.4430=66/149","位于基因组单拷贝区域+DNA结构正常",80184,"12q21.32","NM_025114",null,"LYS838GLU|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v6340",217,217,1,"32629A","CERKL","chr2:182403851","c.1584C>T(exon13)","p.D528D","rs10180793",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","视网膜色素变性26型-AR",null,608380,5,1,5,1,"CERKL",1,170,"同义",13203,"1.0000=231/231","位于基因组单拷贝区域+DNA结构正常",375298,"2q31.3","NM_001030311",null,"rs10180793|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v6390",145,145,1,"32629A","CFHR3","chr1:196757392","c.477C>T(exon4)","p.S159S","rs400344",0.65,0.94,0.96,0.93,0.93,0.94,"纯合","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,603075,5,1,1,2,"CFHR3",1,290,"同义",13203,"1.0000=164/164","位于基因组多拷贝区域+DNA结构正常",10878,"1q32","NM_021023"]
["32629A(745)v6396",210,209,0.9952,"32629A","CFH","chr1:196682947","c.1419G>A(exon10)","p.A473A","rs2274700",0.48,0.41,0.46,0.35,0.44,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16936733;16299065;17327825;17917691;17962488","基底膜板层状玻璃膜疣","AD",126700,5,1,6,4,"CFH",1,270,"同义",13203,"0.9957=233/234","位于基因组多拷贝区域+DNA结构正常",3075,"1q32","NM_000186","rs2274700|\"Membranoproliferative_glomerulonephritis_association\"|16299065","rs2274700|risk factor|OMIM:610698|OMIM:134370.0015|no assertion criteria provided|PubMed:16936733"]
["32629A(745)v6432",18,12,0.6667,"32629A","CHAC1","chr15:41245676","c.21G>A(exon1)","p.E7E","rs11557249",0.24,0.25,0.27,0.24,0.26,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CHAC1",1,38,"同义",13203,"0.6364=14/22","位于基因组单拷贝区域+DNA结构正常",79094,"15q15.1","NM_024111"]
["32629A(745)v6458",20,20,1,"32629A","CHD1L","chr1:146767320","c.*130A>G(exon23)","非编码区","rs6537",0.82,0.92,0.92,0.92,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"CHD1L",1,160,"非编码区",14200,"1.0000=20/20","位于基因组单拷贝区域+DNA结构正常",9557,"1q12","NM_004284"]
["32629A(745)v6506",64,64,1,"32629A","CHI3L1","chr1:203148633","c.1092T>C(exon10)","p.C364C","rs4950927",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"哮喘相关症状易感7型",null,611960,5,1,2,2,"CHI3L1",1,98,"同义",13203,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",1116,"1q32.1","NM_001276"]
["32629A(745)v6565",39,22,0.5641,"32629A","CHRD","chr3:184102396","c.1512C>T(exon13)","p.N504N","rs16858778",0.12,0.24,0.24,0.23,0.2,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CHRD",1,40,"同义",13203,"0.5476=23/42","位于基因组单拷贝区域+DNA结构正常",8646,"3q27","NM_003741"]
["32629A(745)v6581",134,134,1,"32629A","CHRNA4","chr20:61982085","c.678T>C(exon5)","p.C226C","rs1044394",0.86,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17613539;19482438;21445957;23350800","烟草成瘾易感",null,188890,5,1,6,2,"CHRNA4",1,86,"同义",13203,"1.0000=164/164","位于基因组多拷贝区域+DNA结构正常",1137,"20q13.2-q13.3","NM_000744",null,"rs1044394|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v6622",57,57,1,"32629A","CIB1","chr15:90774259","c.466-5C>G(exon6)","非编码区","rs1044813",0.4,0.63,0.68,0.58,0.63,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CIB1",1,71,"非编码区",16202,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",10519,"15q25.3-q26","NM_006384"]
["32629A(745)v6638",42,15,0.3571,"32629A","CIITA","chr16:11001770","c.2421G>T(exon11)","p.L807L","rs34654419",0.22,0.094,0.095,0.092,0.14,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"裸淋巴细胞综合征2型","AR",209920,5,3,5,2,"CIITA",1,61,"同义",13203,"0.3636=16/44","位于基因组单拷贝区域+DNA结构正常",4261,"16p13","NM_000246"]
["32629A(745)v6685",87,39,0.4483,"32629A","CLCA1","chr1:86952324","c.1070A>G(exon7)","p.N357S","rs2734705",0.89,0.87,0.85,0.88,0.89,0.87,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20179644,{"$nulls":3},5,null,5,0,"CLCA1",1,150,"非同义",12220,"0.4158=42/101","位于基因组单拷贝区域+DNA结构正常",1179,"1p22.3","NM_001285","ASN357SER|\"Cystic_fibrosis_modifier_of\"|20179644"]
["32629A(745)v6711",40,40,1,"32629A","CLCNKA","chr1:16360316","c.*163A>T(exon20)","非编码区","rs57537563",0.59,0.74,0.77,0.71,0.7,null,"纯合","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",613090,5,1,8,1,"CLCNKA",1,120,"非编码区",14200,"1.0000=46/46","位于基因组多拷贝区域+DNA结构正常",1187,"1p36","NM_004070"]
["32629A(745)v6737",31,15,0.4839,"32629A","CLDN24","chr4:184243528","c.52C>T(exon1)","p.L18F","rs7688467",0.7,0.55,0.54,0.57,null,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CLDN24",null,null,"非同义",12220,"0.4545=15/33","位于基因组单拷贝区域+DNA结构正常",100132463,"4q35.1","NM_001185149"]
["32629A(745)v6794",64,64,1,"32629A","CLEC4A","chr12:8276432","c.-43C>T(exon1)","非编码区","rs7295783",null,0.98,0.98,0.97,0.97,0.98,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"CLEC4A",1,140,"非编码区",14300,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",50856,"12p13","NM_016184"]
["32629A(745)v6812",179,178,0.9944,"32629A","CLHC1","chr2:55449464","c.84A>G(exon3)","p.Q28Q","rs17852670",0.23,0.31,0.33,0.29,0.31,0.32,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CLHC1",1,140,"同义",13203,"0.9949=194/195","位于基因组单拷贝区域+DNA结构正常",130162,"2p16.1","NM_152385"]
["32629A(745)v6858",2,2,1,"32629A","CLRN1","chr3:150661842","c.-211A>C(exon1)","非编码区","rs11914988",0.27,0.42,0.46,0.38,0.44,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"尤塞氏综合症IIIA型","AR",276902,5,1,3,2,"CLRN1",0.96,130,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",7401,"3q25","NM_052995"]
["32629A(745)v6912",104,51,0.4904,"32629A","CMYA5","chr5:79025317","c.729A>G(exon2)","p.Q243Q","rs1366270",0.28,0.35,0.29,0.42,0.4,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,35,0,"CMYA5",1,110,"同义",13203,"0.4561=52/114","位于基因组单拷贝区域+DNA结构正常",202333,"5q14.1","NM_153610"]
["32629A(745)v6931",66,37,0.5606,"32629A","CMYA5","chr5:79031372","c.6784G>C(exon2)","p.V2262L","rs6859595",0.27,0.35,0.29,0.42,0.4,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,35,0,"CMYA5",1,110,"非同义",12220,"0.6000=45/75","位于基因组单拷贝区域+DNA结构正常",202333,"5q14.1","NM_153610"]
["32629A(745)v7002",59,59,1,"32629A","CNOT4","chr7:135047703","c.1863A>G(exon11)","p.T621T","rs6969632",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CNOT4",0.98,170,"同义",13203,"1.0000=68/68","位于基因组单拷贝区域+DNA结构正常",4850,"7q22-qter","NM_001190847"]
["32629A(745)v7044",53,53,1,"32629A","CNTN4","chr3:3076443","c.1911A>G(exon16)","p.P637P","rs6803232",0.56,0.44,0.42,0.47,0.44,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CNTN4",1,200,"同义",13203,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",152330,"3p26.3","NM_001206955"]
["32629A(745)v7058",129,68,0.5271,"32629A","CNTNAP2","chr7:147674948","c.2256-6A>T(exon15)","非编码区","rs10240482",0.13,0.19,0.2,0.19,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"假Pitt-Hopkins综合征1/脑皮质发育不全伴局灶性癫痫综合征",null,610042,5,2,9,2,"CNTNAP2",1,160,"非编码区",16202,"0.5248=74/141","位于基因组单拷贝区域+DNA结构正常",26047,"7q35","NM_014141",null,"rs10240482|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v7081",178,178,1,"32629A","CNTNAP4","chr16:76528976","c.2236+13T>C(exon14)","非编码区","rs4268783",null,0.77,0.76,0.78,0.75,0.77,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,7,0,"CNTNAP4",1,160,"非编码区",16303,"1.0000=200/200","位于基因组单拷贝区域+DNA结构正常",85445,"16q23.1","NM_033401"]
["32629A(745)v7125",198,196,0.9899,"32629A","COG5","chr7:107002806","c.988T>C(exon9)","p.F330L","rs2269970",0.65,0.66,0.66,0.66,0.67,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"先天性糖基化病2I型",null,613612,5,1,4,1,"COG5",1,210,"非同义",12220,"0.9911=222/224","位于基因组单拷贝区域+DNA结构正常",10466,"7q31","NM_001161520",null,"PHE330LEU|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v7149",21,10,0.4762,"32629A","COL11A2","chr6:33141475","c.2628+3G>A(exon35)","非编码区","rs970901",0.64,0.79,0.8,0.78,0.77,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"纤维软骨增生症2型","AD,AR",614524,5,1,7,6,"COL11A2",0.76,31,"非编码区",16202,"0.4348=10/23","位于基因组单拷贝区域+DNA结构正常",1302,"6p21.3","NM_080680",null,"rs970901|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32629A(745)v7196",16,15,0.9375,"32629A","COL18A1","chr21:46929523-46929523","c.4035+8(exon38)delC","非编码区","rs397867928",0.55,0.58,0.62,0.53,0.26,0.64,"纯合","未知","内含子突变",null,"Knobloch综合症1型/视网膜剥离和枕部脑膨出综合征","AR",267750,4,1,11,1,"COL18A1",1,51,"非编码区",2500,"0.9444=17/18","位于基因组单拷贝区域+简单重复结构",80781,"21q22.3","NM_030582"]
["32629A(745)v7209",39,20,0.5128,"32629A","COL1A1","chr17:48267291","c.2560-18C>G(exon37)","非编码区","rs2075559",0.54,0.48,0.53,0.43,0.53,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24072491,"成骨不全4型","AD",166220,5,1,7,8,"COL1A1",1,82,"非编码区",16202,"0.5238=22/42","位于基因组单拷贝区域+DNA结构正常",1277,"17q21.33","NM_000088"]
["32629A(745)v7214",240,128,0.5333,"32629A","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,"骨质疏松症","AD",166710,5,1,6,6,"COL1A2",1,210,"同义",13203,"0.5432=151/278","位于基因组单拷贝区域+DNA结构正常",1278,"7q22.1","NM_000089"]
["32629A(745)v7217",160,69,0.4313,"32629A","COL1A2","chr7:94043239","c.1645C>G(exon28)","p.P549A","rs42524",0.82,0.93,0.92,0.93,0.93,0.92,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14739420;16361613;18996919;19035720;19426706","爱唐综合症(皮肤弹力过度症)心血管型","AR",225320,5,3,6,6,"COL1A2",1,210,"非同义",12220,"0.4114=72/175","位于基因组单拷贝区域+DNA结构正常",1278,"7q22.1","NM_000089","rs42524|\"Intracranial_aneurysm_susceptibility_association_with\"|14739420"]
["32629A(745)v7262",55,26,0.4727,"32629A","COL2A1","chr12:48367976","c.4213G>A(exon53)","p.G1405S","rs2070739",0.17,0.43,0.42,0.45,0.37,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17697348;18523590;19430638","Strudwick型脊椎骨骺-干骺端发育不良","AD",184250,5,1,9,14,"COL2A1",1,94,"非同义",12210,"0.4821=27/56","位于基因组单拷贝区域+DNA结构正常",1280,"12q13.11","NM_001844"]
["32629A(745)v7265",56,29,0.5179,"32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"捷克发育不良","AD",609162,5,1,9,14,"COL2A1",1,94,"非编码区",16202,"0.5345=31/58","位于基因组单拷贝区域+DNA结构正常",1280,"12q13.11","NM_001844"]
["32629A(745)v7267",87,40,0.4598,"32629A","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","原发性股骨头缺血性坏死",null,608805,5,2,9,14,"COL2A1",1,94,"同义",13203,"0.4565=42/92","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"]
["32629A(745)v7275",86,38,0.4419,"32629A","COL4A1","chr13:110813532","c.4640+7C>T(exon49)","非编码区","rs2275843",0.19,0.31,0.35,0.27,0.32,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性血管病伴肾病、微动脉瘤和肌肉痉挛","AD",611773,5,1,16,4,"COL4A1",1,140,"非编码区",16203,"0.4124=40/97","位于基因组单拷贝区域+DNA结构正常",1282,"13q34","NM_001845"]
["32629A(745)v7286",147,74,0.5034,"32629A","COL4A1","chr13:110861785","c.616-11G>C(exon11)","非编码区","rs645114",0.86,0.75,0.73,0.77,0.75,0.75,"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,614519,5,2,16,4,"COL4A1",1,140,"非编码区",16202,"0.4686=82/175","位于基因组单拷贝区域+DNA结构正常",1282,"13q34","NM_001845"]
["32629A(745)v7298",100,40,0.4,"32629A","COL4A2","chr13:111155786","c.4096G>A(exon43)","p.D1366N","rs558814304",0.0004,0,0,0,0.0047,0.0079,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"脑出血、中风（易感）",null,614519,2,2,13,2,"COL4A2",1,120,"非同义",12110,"0.3962=42/106","位于基因组单拷贝区域+DNA结构正常",1284,"13q34","NM_001846"]
["32629A(745)v7332",35,35,1,"32629A","COL5A1","chr9:137734232","c.*83C>T(exon66)","非编码区","rs13946",0.75,0.6,0.58,0.61,0.6,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18443036;18518984","爱唐综合症(皮肤弹力过度症)2型（经典型）","AD",130010,5,1,7,2,"COL5A1",1,100,"非编码区",14200,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",1289,"9q34.2-q34.3","NM_000093"]
["32629A(745)v7350",34,34,1,"32629A","COL6A1","chr21:47404397","c.428+14A>G(exon3)","非编码区","rs3746993",0.88,0.92,0.92,0.91,0.92,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"Bethlem肌病","AD,AR",158810,5,1,5,2,"COL6A1",1,59,"非编码区",16203,"1.0000=34/34","位于基因组单拷贝区域+DNA结构正常",1291,"21q22.3","NM_001848",null,"rs3746993|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v7371",139,138,0.9928,"32629A","COL6A3","chr2:238267717","c.6369G>A(exon20)","p.L2123L","rs2646254",0.33,0.32,0.36,0.29,0.32,0.35,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"Bethlem肌病","AD,AR",158810,5,1,13,2,"COL6A3",1,94,"同义",13203,"0.9938=159/160","位于基因组单拷贝区域+DNA结构正常",1293,"2q37","NM_004369",null,"rs2646254|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v7400",61,61,1,"32629A","COL9A2","chr1:40777800","c.364-16A>C(exon8)","非编码区","rs1979785",0.4,0.69,0.72,0.67,0.66,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"椎间盘疾病（易感）",null,603932,5,1,7,3,"COL9A2",1,80,"非编码区",16202,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",1298,"1p33-p32","NM_001852"]
["32629A(745)v7411",40,40,1,"32629A","COLEC12","chr18:334994","c.1564T>C(exon6)","p.S522P","rs2305025",0.63,0.79,0.8,0.79,0.77,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"COLEC12",1,100,"非同义",12230,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",81035,"18pter-p11.3","NM_130386"]
["32629A(745)v7453",30,11,0.3667,"32629A","COQ5","chr12:120966921","c.24T>C(exon1)","p.A8A","rs3742052",0.26,0.47,0.48,0.47,0.49,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"COQ5",1,92,"同义",13203,"0.3056=11/36","位于基因组单拷贝区域+DNA结构正常",84274,"12q24.31","NM_032314"]
["32629A(745)v7476",175,52,0.2971,"32629A","COX10","chr17:14095550","c.928+12G>A(exon6)","非编码区","rs200573622",{"$nulls":4},0.15,0.15,"杂合","未知","内含子突变可能影响调控","CLINVAR数据库","线粒体复合物IV缺陷","AR",220110,4,3,6,2,"COX10",1,110,"非编码区",16303,"0.2932=56/191","位于基因组多拷贝区域+DNA结构正常",1352,"17p12","NM_001303",null,"rs200573622|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v7524",83,83,1,"32629A","CPB2","chr13:46656669","c.291T>C(exon4)","p.D97D","rs2296642",0.8,0.83,0.8,0.86,0.83,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"CPB2",1,180,"同义",13203,"1.0000=90/90","位于基因组单拷贝区域+DNA结构正常",1361,"13q14.11","NM_001872"]
["32629A(745)v7581",30,30,1,"32629A","CPNE8","chr12:39299404","c.-68A>C(exon1)","非编码区","rs1108122",0.11,0.32,0.33,0.32,0.32,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CPNE8",1,210,"非编码区",14200,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",144402,"12q12","NM_153634"]
["32629A(745)v7593",121,49,0.405,"32629A","CPS1","chr2:211456637","c.1030A>G(exon10)","p.T344A","rs1047883",{"$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,615371,3,2,5,2,"CPS1",1,190,"非同义",12320,"0.4198=55/131","位于基因组单拷贝区域+DNA结构正常",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"]
["32629A(745)v7645",49,49,1,"32629A","CPZ","chr4:8621194","c.1398A>G(exon11)","p.P466P","rs28514374",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"CPZ",1,61,"同义",13203,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",8532,"4p16.1","NM_001014448"]
["32629A(745)v7657",77,77,1,"32629A","CR1","chr1:207782916","c.6178A>T(exon37)","p.T2060S","rs4844609",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","11896343;22343410;23582656","血型，Knops系统",null,607486,5,1,6,2,"CR1",1,270,"非同义",12220,"1.0000=90/90","位于基因组单拷贝区域+DNA结构正常",1378,"1q32","NM_000651","rs4844609|\"Knops_blood_group_variation\"|11896343"]
["32629A(745)v7700",44,27,0.6136,"32629A","CREBBP","chr16:3795363","c.3837-8C>T(exon22)","非编码区","rs3025684",0.21,0.21,0.18,0.24,0.18,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;15830322;21752352","Rubinstein-Taybi综合征1型","AD",180849,5,1,5,1,"CREBBP",1,80,"非编码区",16202,"0.6170=29/47","位于基因组单拷贝区域+DNA结构正常",1387,"16p13.3","NM_004380",null,"rs3025684|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v7764",4,3,0.75,"32629A","CROCC","chr1:17287414","c.4194T>C(exon27)","p.A1398A","rs2273113",0.3,0.21,0.2,0.22,0.24,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"CROCC",1,61,"同义",13203,"0.7500=3/4","位于基因组多拷贝区域+DNA结构正常",9696,"1p36.13","NM_014675"]
["32629A(745)v7783",73,42,0.5753,"32629A","CRYBB2","chr22:25625554","c.449+9G>A(exon5)","非编码区","rs55700037",0.79,0.95,0.96,0.94,0.94,0.95,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性蓝色点状白内障2型",null,601547,5,2,2,1,"CRYBB2",1,98,"非编码区",16203,"0.5789=44/76","位于基因组多拷贝区域+DNA结构正常",1415,"22q11.23","NM_000496"]
["32629A(745)v7840",53,20,0.3774,"32629A","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",{"$nulls":4},4,null,17,0,"CSMD1",1,160,"非编码区",16102,"0.3750=21/56","位于基因组单拷贝区域+DNA结构正常",64478,"8p23.2","NM_033225"]
["32629A(745)v7860",18,18,1,"32629A","CSNK1A1L","chr13:37678149","c.*231G>A(exon1)","非编码区","rs1856028",0.54,0.77,0.78,0.76,0.75,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CSNK1A1L",1,230,"非编码区",14200,"1.0000=20/20","位于基因组多拷贝区域+DNA结构正常",122011,"13q13.3","NM_145203"]
["32629A(745)v7914",114,46,0.4035,"32629A","CST9","chr20:23586360","c.142C>T(exon1)","p.L48F","rs2983640",0.46,0.64,0.67,0.62,0.68,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CST9",1,110,"非同义",12220,"0.3917=47/120","位于基因组单拷贝区域+DNA结构正常",128822,"20p11.21","NM_001008693"]
["32629A(745)v7971",33,12,0.3636,"32629A","CTBP2","chr10:126678000","c.*87T>C(exon9)","非编码区","rs78292482",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,54,0,"CTBP2",1,54,"非编码区",14300,"0.3714=13/35","位于基因组多拷贝区域+DNA结构正常",1488,"10q26.13","NM_022802"]
["32629A(745)v7990",9,4,0.4444,"32629A","CTBP2","chr10:126715154","c.1175T>C(exon1)","p.L392P","rs3781412",0.32,0.32,0.26,0.37,0.21,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,54,0,"CTBP2",1,54,"非同义",12220,"0.4444=4/9","位于基因组单拷贝区域+DNA结构正常",1488,"10q26.13","NM_022802"]
["32629A(745)v8048",111,49,0.4414,"32629A","CTPS1","chr1:41466803","c.1094+14G>A(exon10)","非编码区","rs12718433",0.33,0.43,0.45,0.41,0.39,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"免疫缺陷24型",null,615897,5,2,3,1,"CTPS1",1,170,"非编码区",16203,"0.4508=55/122","位于基因组单拷贝区域+DNA结构正常",1503,"1p34.1","NM_001905"]
["32629A(745)v8053",96,45,0.4688,"32629A","CTSA","chr20:44523547","c.948+7G>A(exon10)","非编码区","rs2075961",0.68,0.66,0.66,0.67,0.65,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"半乳糖涎酸贮积症/半乳糖唾液酸沉积症","AR",256540,5,3,3,1,"CTSA",1,82,"非编码区",16203,"0.4434=47/106","位于基因组单拷贝区域+DNA结构正常",5476,"20q13.1","NM_001127695"]
["32629A(745)v8112",129,129,1,"32629A","CUL4A","chr13:113888201","c.676-10T>C(exon7)","非编码区","rs2146408",0.91,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CUL4A",1,140,"非编码区",16202,"1.0000=137/137","位于基因组单拷贝区域+DNA结构正常",8451,"13q34","NM_001008895"]
["32629A(745)v8134",75,39,0.52,"32629A","CUX2","chr12:111785311","c.3660-17C>T(exon22)","非编码区","rs765523797",{"$nulls":5},0.00024,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,6,0,"CUX2",1,65,"非编码区",16302,"0.5063=40/79","位于基因组单拷贝区域+DNA结构正常",23316,"12q24.12","NM_015267"]
["32629A(745)v8175",4,4,1,"32629A","CXCL16","chr17:4642787","c.-96G>T(exon1)","非编码区","rs2304970",0.58,0.6,0.63,0.57,0.61,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"CXCL16",1,66,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",58191,"17p13","NM_022059"]
["32629A(745)v8236",31,18,0.5806,"32629A","CYB5R3","chr22:43015716","c.*63A>G(exon9)","非编码区","rs137124",0.49,0.68,0.67,0.68,0.71,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16251468;19052777","高铁血红蛋白还原酶缺乏导致的高铁血红蛋白血症","AR",250800,5,3,3,1,"CYB5R3",1,61,"非编码区",14200,"0.6389=23/36","位于基因组单拷贝区域+DNA结构正常",1727,"22q13.2","NM_001129819"]
["32629A(745)v8251",46,27,0.587,"32629A","CYFIP1","chr15:22929906","c.569+11A>G(exon6)","非编码区","rs2305093",0.85,0.87,0.88,0.85,0.89,0.87,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CYFIP1",1,86,"非编码区",16203,"0.5918=29/49","位于基因组单拷贝区域+DNA结构正常",23191,"15q11","NM_014608"]
["32629A(745)v8300",128,128,1,"32629A","CYP24A1","chr20:52775528","c.1125G>A(exon8)","p.P375P","rs2296239",0.4,0.61,0.61,0.62,0.61,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23381556,"婴儿型高钙血症","AR",143880,5,1,2,1,"CYP24A1",1,90,"同义",13203,"1.0000=143/143","位于基因组单拷贝区域+DNA结构正常",1591,"20q13","NM_000782"]
["32629A(745)v8331",95,34,0.3579,"32629A","CYP2A7","chr19:41387656","c.181T>A(exon2)","p.F61I","rs10425176",0.52,0.49,0.5,0.47,0.44,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"CYP2A7",1,160,"非同义",12220,"0.3519=38/108","位于基因组多拷贝区域+DNA结构正常",1549,"19q13.2","NM_000764"]
["32629A(745)v8346",86,58,0.6744,"32629A","CYP2D6","chr22:42526694","c.100C>T(exon1)","p.P34S","rs1065852",0.24,0.61,0.61,0.6,0.52,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","2211621;18547414;18698231;19639055;20174590","CYP2D6相关性药物代谢不良","AR",608902,5,3,4,1,"CYP2D6",1,100,"非同义",11200,"0.6832=69/101","位于基因组多拷贝区域+DNA结构正常",1565,"22q13.1","NM_000106","PRO34SER|\"Poor_metaboliser\"|2211621","PRO34SER|drug response|NA|OMIM:124030.0005|no assertion criteria provided|PubMed:2211621","PRO34SER|608902|124030.0005.1"]
["32629A(745)v8413",16,9,0.5625,"32629A","CYTH1","chr17:76672002","c.*171A>G(exon13)","非编码区","rs1126607",0.23,0.35,0.34,0.37,0.35,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CYTH1",1,120,"非编码区",14200,"0.6111=11/18","位于基因组单拷贝区域+DNA结构正常",9267,"17q25","NM_004762"]
["32629A(745)v8419",182,89,0.489,"32629A","CYTH3","chr7:6227314","c.156C>T(exon3)","p.I52I","rs181004621",0.0016,0.014,0.024,0.0049,0.0056,0.0062,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"CYTH3",1,120,"同义",13103,"0.5234=112/214","位于基因组单拷贝区域+DNA结构正常",9265,"7p22.1","NM_004227"]
["32629A(745)v8476",53,19,0.3585,"32629A","DAXX","chr6:33286825","c.2112C>T(exon7)","p.A704A","rs11873",0.016,0.019,0.014,0.024,0.011,0.012,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"DAXX",1,56,"同义",13103,"0.3770=23/61","位于基因组单拷贝区域+DNA结构正常",1616,"6p21.3","NM_001141969"]
["32629A(745)v8531",79,53,0.6709,"32629A","DCHS1","chr11:6646108","c.7147-9A>G(exon20)","非编码区","rs10458926",0.2,0.36,0.35,0.36,0.31,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Van Maldergem综合征1型","AR",601390,5,3,8,1,"DCHS1",1,55,"非编码区",16202,"0.6627=55/83","位于基因组单拷贝区域+DNA结构正常",8642,"11p15.4","NM_003737"]
["32629A(745)v8567",21,11,0.5238,"32629A","DCLK2","chr4:151177341","c.2294C>G(exon17)","p.P765R","rs13152820",0.88,0.75,0.76,0.74,0.68,0.85,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DCLK2",1,140,"非同义",12220,"0.5185=14/27","位于基因组单拷贝区域+DNA结构正常",166614,"4q31.3","NM_001040261"]
["32629A(745)v8606",13,4,0.3077,"32629A","DDHD1","chr14:53619463","c.354C>T(exon1)","p.H118H","rs2358188",0.75,0.98,0.99,0.97,0.97,0.98,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"痉挛性截瘫28型","AR",609340,5,3,6,1,"DDHD1",1,140,"同义",13203,"0.2353=4/17","位于基因组单拷贝区域+DNA结构正常",80821,"14q21","NM_001160148"]
["32629A(745)v8663",61,61,1,"32629A","DDX41","chr5:176938681","c.*111G>A(exon17)","非编码区","rs28695578",0.98,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DDX41",1,57,"非编码区",14200,"1.0000=69/69","位于基因组单拷贝区域+DNA结构正常",51428,"5q35.3","NM_016222"]
["32629A(745)v8696",8,8,1,"32629A","DDX56","chr7:44613612-44613612","c.-118(exon1)delC","非编码区","rs11308115",0.76,0.84,0.82,0.86,0,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"DDX56",1,77,"非编码区",2420,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",54606,"7p13","NM_019082"]
["32629A(745)v8738",220,94,0.4273,"32629A","DEFB108B","chr11:71548544","c.158A>G(exon2)","p.Q53R","rs7120658",0.54,0.35,0.3,0.39,0.35,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DEFB108B",1,220,"非同义",12220,"0.4378=109/249","位于基因组多拷贝区域+DNA结构正常",245911,"11q13.4","NM_001002035"]
["32629A(745)v8753",142,72,0.507,"32629A","DEFB1","chr8:6735399","c.-20G>A(exon1)","非编码区","rs11362",0.4,0.45,0.47,0.44,0.39,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16868452;16700921;17943629;18396467;18938660",{"$nulls":3},5,null,5,0,"DEFB1",1,130,"非编码区",14200,"0.5031=80/159","位于基因组单拷贝区域+DNA结构正常",1672,"8p23.1","NM_005218","rs11362|\"HIV-1_infection_association_with\"|16868452"]
["32629A(745)v8814",124,58,0.4677,"32629A","DEPDC5","chr22:32229977","c.2170+11G>A(exon25)","非编码区","rs55645350",0.082,0.041,0.048,0.034,0.043,0.038,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性局灶性癫痫伴可变灶","AD",604364,5,1,4,1,"DEPDC5",1,110,"非编码区",16203,"0.4853=66/136","位于基因组单拷贝区域+DNA结构正常",9681,"22q12.3","NM_001242896"]
["32629A(745)v8836",49,28,0.5714,"32629A","DFNB31","chr9:117166246","c.2348T>C(exon10)","p.V783A","rs2274159",0.41,0.42,0.4,0.45,0.46,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;20352026;21239504;25469008;15841483","尤塞氏综合症IID型",null,611383,5,2,6,2,"DFNB31",1,50,"非同义",12220,"0.5577=29/52","位于基因组单拷贝区域+DNA结构正常",25861,"9q32","NM_015404",null,"rs2274159|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266;VAL783ALA|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32629A(745)v8864",231,230,0.9957,"32629A","DGKH","chr13:42772717","c.2271G>T(exon18)","p.P757P","rs9533031",0.4,0.39,0.36,0.42,0.4,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"DGKH",0.99,180,"同义",13203,"0.9964=273/274","位于基因组单拷贝区域+DNA结构正常",160851,"13q14.11","NM_178009"]
["32629A(745)v8920",17,17,1,"32629A","DHX37","chr12:125438549","c.2579-7T>C(exon20)","非编码区","rs4606565",0.66,0.84,0.84,0.84,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16936215,{"$nulls":3},5,null,13,0,"DHX37",1,54,"非编码区",16202,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",57647,"12q24.31","NM_032656"]
["32629A(745)v8935",82,82,1,"32629A","DHX8","chr17:41570427","c.863+19T>C(exon6)","非编码区","rs2279191",0.23,0.35,0.3,0.41,0.37,0.31,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"DHX8",1,120,"非编码区",16203,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",1659,"17q21.31","NM_004941"]
["32629A(745)v8982",7,4,0.5714,"32629A","DISC1","chr1:231762607","c.-7G>A(exon1)","非编码区","rs3738399",0.076,0.25,0.19,0.31,0.23,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精神分裂症","AD",181500,5,1,6,2,"DISC1",0.95,91,"非编码区",14200,"0.5714=4/7","位于基因组单拷贝区域+DNA结构正常",27185,"1q42.1","NM_001164537"]
["32629A(745)v9037",12,12,1,"32629A","DLGAP2","chr8:1616863","c.1920+19C>G(exon5)","非编码区","rs2235113",0.18,0.42,0.4,0.44,0.5,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DLGAP2",1,62,"非编码区",16203,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",9228,"8p23","NM_004745"]
["32629A(745)v9050",73,33,0.4521,"32629A","DLX3","chr17:48072225","c.138C>T(exon1)","p.P46P","rs33937843",0.15,0.17,0.19,0.16,0.17,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"牙釉质发育不全4型","AD",104510,5,1,4,2,"DLX3",1,72,"同义",13203,"0.4318=38/88","位于基因组单拷贝区域+DNA结构正常",1747,"17q21","NM_005220"]
["32629A(745)v9078",116,55,0.4741,"32629A","DMKN","chr19:36002710","c.690G>T(exon4)","p.T230T","rs4806162",0.33,0.45,0.42,0.48,0.47,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"DMKN",1,79,"同义",13203,"0.4853=66/136","位于基因组单拷贝区域+DNA结构正常",93099,"19q13.12","NM_033317"]
["32629A(745)v9109",55,25,0.4545,"32629A","DMXL2","chr15:51791559","c.3862T>C(exon18)","p.S1288P","rs12102203",0.44,0.44,0.43,0.44,0.44,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19023099,"多内分泌腺病-多发性神经病变综合征","AR",616113,5,3,7,1,"DMXL2",1,150,"非同义",12220,"0.4746=28/59","位于基因组单拷贝区域+DNA结构正常",23312,"15q21.2","NM_001174116"]
["32629A(745)v9164",65,28,0.4308,"32629A","DNAH11","chr7:21932044","c.12531C>T(exon77)","p.D4177D","rs12537531",0.37,0.43,0.41,0.45,0.43,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"原发性纤毛运动障碍7型（伴或不伴内脏异位）","AR",611884,5,3,24,1,"DNAH11",1,180,"同义",13202,"0.4118=28/68","位于基因组单拷贝区域+DNA结构正常",8701,"7p21","NM_003777",null,"rs12537531|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32629A(745)v9225",45,25,0.5556,"32629A","DNAH17","chr17:76528790","c.2888T>C(exon20)","p.I963T","rs11651537",0.46,0.4,0.41,0.39,0.45,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,33,0,"DNAH17",1,77,"非同义",12220,"0.5652=26/46","位于基因组单拷贝区域+DNA结构正常",8632,"17q25.3","NM_173628"]
["32629A(745)v9236",69,31,0.4493,"32629A","DNAH1","chr3:52430526","c.11402G>A(exon71)","p.G3801D","rs12163565",0.17,0.3,0.33,0.26,0.23,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DNAH1",1,65,"非同义",12220,"0.4800=36/75","位于基因组单拷贝区域+DNA结构正常",25981,"3p21.1","NM_015512"]
["32629A(745)v9296",123,123,1,"32629A","DNAH8","chr6:38828424-38828425","c.6131+19(exon43)_c.6131+20(exon43)insT","非编码区","rs34840510",0.49,0.69,0.69,0.69,0.46,0.7,"纯合","未知","内含子突变",{"$nulls":4},4,null,14,0,"DNAH8",0.98,200,"非编码区",2500,"1.0000=139/139","位于基因组单拷贝区域+简单重复结构",1769,"6p21.2","NM_001206927"]
["32629A(745)v9315",67,20,0.2985,"32629A","DNAI2","chr17:72297180","c.865-5A>G(exon8)","非编码区","rs8076337",0.26,0.2,0.17,0.23,0.21,0.21,"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9型（伴或不伴内脏异位）",null,612444,5,2,5,1,"DNAI2",1,91,"非编码区",16202,"0.2532=20/79","位于基因组单拷贝区域+DNA结构正常",64446,"17q25","NM_023036",null,"rs8076337|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32629A(745)v9365",2,2,1,"32629A","DNAL1","chr14:74166821","c.*4176G>A(exon9)","非编码区","rs2159568",0.28,0.25,0.27,0.23,null,null,"纯合","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16型","AR",614017,5,1,1,1,"DNAL1",1,200,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",83544,"14q24.3","NM_001201366"]
["32629A(745)v9427",36,36,1,"32629A","DOC2B","chr17:6115","c.819C>G(exon6)","p.S273S","rs61739713",0.72,0.86,0.88,0.84,0.84,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DOC2B",1,49,"同义",13203,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",8447,"17p13.3","NM_003585"]
["32629A(745)v9442",66,33,0.5,"32629A","DOCK2","chr5:169127097","c.1212C>A(exon13)","p.T404T","rs2112703",0.12,0.1,0.09,0.11,0.12,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"DOCK2",1,120,"同义",13203,"0.4930=35/71","位于基因组单拷贝区域+DNA结构正常",1794,"5q35.1","NM_004946"]
["32629A(745)v9489",80,34,0.425,"32629A","DOCK9","chr13:99482030","c.4567-20C>G(exon42)","非编码区","rs9517459",0.21,0.4,0.45,0.34,0.38,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"DOCK9",1,140,"非编码区",16202,"0.4348=40/92","位于基因组单拷贝区域+DNA结构正常",23348,"13q32.3","NM_001130048"]
["32629A(745)v9505",25,25,1,"32629A","DOK7","chr4:3475252","c.220T>C(exon3)","p.L74L","rs4325970",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","胎儿运动不能畸形序列征(Pena-Shokeir综合征I型)","AR",208150,5,1,5,2,"DOK7",1,33,"同义",13203,"1.0000=26/26","位于基因组单拷贝区域+DNA结构正常",285489,"4p16.3","NM_173660",null,"rs4325970|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v9557",76,28,0.3684,"32629A","DPP7","chr9:140006425","c.1107G>C(exon10)","p.P369P","rs10747048",0.78,0.71,0.69,0.73,0.73,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DPP7",1,51,"同义",13203,"0.3765=32/85","位于基因组单拷贝区域+DNA结构正常",29952,"9q34.3","NM_013379"]
["32629A(745)v9615",51,51,1,"32629A","DRD3","chr3:113890815","c.25G>A(exon2)","p.G9S","rs6280",0.51,0.67,0.66,0.67,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","9514583;12673575;16380908;16893532;17466074","精神分裂症9型",null,604906,5,1,3,2,"DRD3",1,94,"非同义",12220,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",1814,"3q13.3","NM_000796","rs6280|\"Tardive_dyskinesia_in_schizophrenia_association\"|12673575","GLY9SER|risk factor|NA|OMIM:126451.0001|no assertion criteria provided|PubMed:9514583"]
["32629A(745)v9620",19,8,0.4211,"32629A","DRD5","chr4:9785134","c.*47T>C(exon1)","非编码区","rs1967551",0.43,0.33,0.33,0.32,0.33,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19397556,"良性眼睑痉挛",null,606798,5,2,3,2,"DRD5",1,47,"非编码区",14200,"0.4000=8/20","位于基因组多拷贝区域+DNA结构正常",1816,"4p16.1","NM_000798"]
["32629A(745)v9661",268,267,0.9963,"32629A","DSPP","chr4:88536457-88536458","c.2643(exon5)_c.2644(exon5)insAGTAGTGAC","p.D881_S882insSSD","rs141186173",0.66,0.7,0.71,0.7,0.021,0.67,"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",605594,5,1,11,4,"DSPP",1,290,"非移码",2222,"0.9968=314/315","位于基因组多拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208"]
["32629A(745)v9666",160,160,1,"32629A","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,"牙质形成不全，SHIELDS3型","AD",125500,5,1,11,4,"DSPP",1,290,"非编码区",14200,"1.0000=184/184","位于基因组单拷贝区域+DNA结构正常",1834,"4q21.3","NM_014208"]
["32629A(745)v9693",58,27,0.4655,"32629A","DTX4","chr11:58949881","c.881G>A(exon2)","p.R294H","rs141860745",3.8E-3,0.024,0.019,0.029,0.037,0.025,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"DTX4",1,96,"非同义",12110,"0.4627=31/67","位于基因组单拷贝区域+DNA结构正常",23220,"11q12.1","NM_015177"]
["32629A(745)v9757",53,53,1,"32629A","DUSP3","chr17:41846964","c.*13A>G(exon3)","非编码区","rs1230403",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DUSP3",1,89,"非编码区",14200,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",1845,"17q21","NM_004090"]
["32629A(745)v9768",88,88,1,"32629A","DUXA","chr19:57665750","c.*30A>G(exon6)","非编码区","rs8108591",0.42,0.3,0.29,0.32,0.29,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DUXA",1,130,"非编码区",14200,"1.0000=109/109","位于基因组多拷贝区域+DNA结构正常",503835,"19q13.43","NM_001012729"]
["32629A(745)v9812",263,126,0.4791,"32629A","DZANK1","chr20:18433335","c.476-9A>G(exon6)","非编码区","rs41276436",0.15,0.37,0.38,0.36,0.34,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"DZANK1",1,120,"非编码区",16202,"0.4949=146/295","位于基因组单拷贝区域+DNA结构正常",55184,"20p11.23","NM_001099407"]
["32629A(745)v9831",80,38,0.475,"32629A","E2F8","chr11:19251826","c.1320C>T(exon9)","p.L440L","rs11821023",0.1,0.17,0.16,0.19,0.18,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"E2F8",1,130,"同义",13203,"0.4651=40/86","位于基因组单拷贝区域+DNA结构正常",79733,"11p15.1","NM_024680"]
["32629A(745)v9894",80,80,1,"32629A","EDAR","chr2:109513601","c.1109T>C(exon12)","p.V370A","rs3827760",0.24,0.92,0.9,0.94,0.92,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18704500;18065779;16255080;18561327;18817904","毛发形态学1型",null,612630,5,1,4,3,"EDAR",1,78,"非同义",11200,"1.0000=85/85","位于基因组单拷贝区域+DNA结构正常",10913,"2q13","NM_022336","VAL370ALA|\"Increased_hair_thickness_in_Asians_association_with\"|18065779","VAL370ALA|Benign;association|NA|OMIM:604095.0011|criteria provided, single submitter|PubMed:18704500","VAL370ALA|612630|604095.0011.1"]
["32629A(745)v9925",89,37,0.4157,"32629A","EEF1A1","chr6:74229052-74229054","c.324+6(exon3)_c.324+8(exon3)delTGG","非编码区","rs139835813",0.094,0.17,0.17,0.17,0.028,0.19,"杂合","未知","内含子突变",{"$nulls":4},4,null,3,0,"EEF1A1",1,74,"非编码区",2500,"0.4082=40/98","位于基因组多拷贝区域+DNA结构正常",1915,"6q14.1","NM_001402"]
["32629A(745)v9944",73,37,0.5068,"32629A","EEPD1","chr7:36320821","c.1028G>A(exon4)","p.S343N","rs196586",0.94,0.97,0.99,0.96,0.93,0.95,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"EEPD1",1,98,"非同义",12220,"0.5000=45/90","位于基因组单拷贝区域+DNA结构正常",80820,"7p14.2","NM_030636"]
["32629A(745)v10008",2,2,1,"32629A","EFNB1","chrX:68061231","c.*734A>C(exon5)","非编码区","rs688969",null,0.36,0.33,0.39,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"颅额鼻综合征","XD",304110,3,1,1,1,"EFNB1",1,78,"非编码区",14300,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",1947,"Xq12","NM_004429"]
["32629A(745)v10052",62,29,0.4677,"32629A","EHBP1","chr2:63272724","c.*89T>C(exon25)","非编码区","rs2018650",0.12,0.24,0.22,0.25,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21750575,"遗传性前列腺癌12型",null,611868,5,2,2,1,"EHBP1",1,200,"非编码区",14200,"0.4776=32/67","位于基因组单拷贝区域+DNA结构正常",23301,"2p15","NM_015252"]
["32629A(745)v10067",3,3,1,"32629A","EHMT2","chr6:31856070","c.1510-17C>T(exon13)","非编码区","rs486416",0.82,0.79,0.78,0.8,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17660530,{"$nulls":3},5,null,2,0,"EHMT2",0.61,15,"非编码区",16202,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",10919,"6p21.31","NM_006709"]
["32629A(745)v10124",2,2,1,"32629A","EIF4EBP2","chr10:72186162","c.*4659G>A(exon3)","非编码区","rs7082670",0.15,0.22,0.22,0.22,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"EIF4EBP2",1,91,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",1979,"10q21-q22","NM_004096"]
["32629A(745)v10155",20,9,0.45,"32629A","ELF3","chr1:201981862","c.573T>C(exon5)","p.P191P","rs2819362",0.7,0.81,0.8,0.82,0.77,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ELF3",1,77,"同义",13203,"0.4762=10/21","位于基因组单拷贝区域+DNA结构正常",1999,"1q32.2","NM_001114309"]
["32629A(745)v10197",195,102,0.5231,"32629A","ELTD1","chr1:79411951","c.325+8C>T(exon3)","非编码区","rs11162579",0.14,0.36,0.37,0.34,0.34,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ELTD1",1,210,"非编码区",16203,"0.5132=117/228","位于基因组单拷贝区域+DNA结构正常",64123,"1p33-p32","NM_022159"]
["32629A(745)v10254",107,107,1,"32629A","EMR1","chr19:6919624","c.1486A>C(exon13)","p.K496Q","rs373533",0.73,0.81,0.78,0.84,0.83,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23614351;24934404",{"$nulls":3},5,null,5,0,"EMR1",1,110,"非同义",12220,"1.0000=116/116","位于基因组单拷贝区域+DNA结构正常",2015,"19p13.3","NM_001974"]
["32629A(745)v10284",87,45,0.5172,"32629A","ENO3","chr17:4856580","c.254T>C(exon5)","p.V85A","rs238239",0.3,0.16,0.14,0.18,0.13,0.15,"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",612932,5,3,2,1,"ENO3",1,98,"非同义",12220,"0.4839=45/93","位于基因组单拷贝区域+DNA结构正常",2027,"17pter-p11","NM_001976"]
["32629A(745)v10325",15,11,0.7333,"32629A","ENTPD2","chr9:139943235","c.1362G>T(exon9)","p.G454G",{"$nulls":5},1E-3,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ENTPD2",1,40,"同义",13403,"0.6875=11/16","位于基因组单拷贝区域+DNA结构正常",954,"9q34","NM_203468"]
["32629A(745)v10344",198,85,0.4293,"32629A","EOGT","chr3:69036683","c.832-19C>T(exon11)","非编码区","rs4855541",0.43,0.54,0.51,0.56,0.56,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"亚当斯-奥利弗综合征4型","AR",615297,5,3,4,1,"EOGT",1,180,"非编码区",16202,"0.4364=96/220","位于基因组单拷贝区域+DNA结构正常",285203,"3p14.1","NM_173654"]
["32629A(745)v10391",36,14,0.3889,"32629A","EPHA10","chr1:38186189","c.2246G>A(exon13)","p.G749E","rs6671088",0.11,0,0,0,0.0098,0.0013,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"EPHA10",1,54,"非同义",12210,"0.3659=15/41","位于基因组单拷贝区域+DNA结构正常",284656,"1p34.3","NM_001099439"]
["32629A(745)v10428",50,18,0.36,"32629A","EPHX1","chr1:226032928","c.1248G>A(exon9)","p.K416K","rs4149229",0.051,0.1,0.12,0.087,0.086,0.086,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"子痫前期/子痫1型","AD",189800,5,1,3,2,"EPHX1",1,84,"同义",13203,"0.3333=18/54","位于基因组单拷贝区域+DNA结构正常",2052,"1q42.1","NM_000120"]
["32629A(745)v10462",157,157,1,"32629A","EPSTI1","chr13:43469157","c.936C>T(exon11)","p.S312S","rs1128105",0.46,0.63,0.67,0.6,0.57,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"EPSTI1",1,150,"同义",13203,"1.0000=172/172","位于基因组单拷贝区域+DNA结构正常",94240,"13q13.3","NM_001002264"]
["32629A(745)v10511",55,55,1,"32629A","ERCC6L","chrX:71458805","c.-44G>A(exon1)","非编码区","rs41298504",null,0.44,0.4,0.49,null,0.45,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ERCC6L",1,94,"非编码区",14300,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",54821,"Xq13.1","NM_017669"]
["32629A(745)v10526",52,52,1,"32629A","ERICH1","chr8:618728","c.1128T>C(exon5)","p.L376L","rs2271263",{"$nulls":4},0.95,0.95,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ERICH1",1,81,"同义",13303,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",157697,"8p23.3","NM_207332"]
["32629A(745)v10563",38,18,0.4737,"32629A","ESAM","chr11:124623492","c.*50A>G(exon7)","非编码区","rs12541",0.37,0.26,0.28,0.25,0.26,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ESAM",1,96,"非编码区",14200,"0.5238=22/42","位于基因组单拷贝区域+DNA结构正常",90952,"11q24.2","NM_138961"]
["32629A(745)v10613",42,14,0.3333,"32629A","ESRRA","chr11:64083290","c.1124G>A(exon7)","p.R375Q","rs150848359",{"$nulls":4},0.21,0.013,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,12,0,"ESRRA",1,54,"非同义",12320,"0.3333=14/42","位于基因组多拷贝区域+DNA结构正常",2101,"11q13","NM_004451"]
["32629A(745)v10632",40,16,0.4,"32629A","ESYT2","chr7:158536376","c.1726-7T>G(exon16)","非编码区","rs2305476",0.34,0.58,0.59,0.56,0.56,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ESYT2",0.98,110,"非编码区",16202,"0.4000=16/40","位于基因组单拷贝区域+DNA结构正常",57488,"7q36.3","NM_020728"]
["32629A(745)v10671",135,135,1,"32629A","EVC","chr4:5743512","c.772T>C(exon6)","p.Y258H","rs6414624",0.74,0.91,0.92,0.9,0.9,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18947413;20184732","Weyers头面骨发育不全综合征","AD",193530,5,1,15,2,"EVC",1,110,"非同义",12220,"1.0000=151/151","位于基因组单拷贝区域+DNA结构正常",2121,"4p16","NM_153717",null,"TYR258HIS|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v10730",24,11,0.4583,"32629A","EXOC3L4","chr14:103576395","c.2004G>A(exon11)","p.A668A","rs729185",0.31,0.46,0.43,0.48,0.43,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"EXOC3L4",1,36,"同义",13203,"0.4800=12/25","位于基因组单拷贝区域+DNA结构正常",91828,"14q32.32","NM_001077594"]
["32629A(745)v10749",75,75,1,"32629A","EXOSC10","chr1:11132217","c.2169C>T(exon20)","p.R723R","rs1130683",0.61,0.78,0.77,0.8,0.78,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"EXOSC10",1,110,"同义",13203,"1.0000=88/88","位于基因组单拷贝区域+DNA结构正常",5394,"1p36.22","NM_001001998"]
["32629A(745)v10798",78,43,0.5513,"32629A","F10","chr13:113801737","c.792C>T(exon7)","p.T264T","rs5960",0.62,0.49,0.48,0.5,0.5,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17048007,"凝血因子X缺乏症","AR",227600,5,3,2,1,"F10",1,87,"同义",13203,"0.5542=46/83","位于基因组单拷贝区域+DNA结构正常",2159,"13q34","NM_000504"]
["32629A(745)v10823",314,149,0.4745,"32629A","F5","chr1:169510475","c.3853C>A(exon13)","p.L1285I","rs1046712",0.16,0.13,0.12,0.13,0.09,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17677000,"缺血性中风（易感）",null,601367,5,2,9,5,"F5",1,180,"非同义",12220,"0.4778=172/360","位于基因组单拷贝区域+DNA结构正常",2153,"1q23","NM_000130"]
["32629A(745)v10828",106,53,0.5,"32629A","F5","chr1:169551682","c.237A>G(exon2)","p.Q79Q","rs6028",0.23,0.2,0.17,0.23,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18426996;19404301;22703881","习惯性流产1型（易感）","AD",614389,5,1,9,5,"F5",1,180,"同义",13203,"0.4961=64/129","位于基因组单拷贝区域+DNA结构正常",2153,"1q23","NM_000130"]
["32629A(745)v10885",41,25,0.6098,"32629A","FAM107B","chr10:14563097","c.*92T>C(exon5)","非编码区","rs3780915",0.79,0.89,0.86,0.92,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FAM107B",1,110,"非编码区",14200,"0.6667=34/51","位于基因组单拷贝区域+DNA结构正常",83641,"10p13","NM_031453"]
["32629A(745)v10890",34,12,0.3529,"32629A","FAM109B","chr22:42473860","c.563C>G(exon3)","p.A188G","rs1807493",0.16,0.11,0.086,0.13,0.11,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FAM109B",1,34,"非同义",12220,"0.3429=12/35","位于基因组单拷贝区域+DNA结构正常",150368,"22q13.2","NM_001002034"]
["32629A(745)v10959",126,63,0.5,"32629A","FAM135B","chr8:139144914","c.4143C>T(exon20)","p.A1381A","rs2280848",0.075,0.21,0.2,0.22,0.2,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"FAM135B",1,120,"同义",13203,"0.5072=70/138","位于基因组单拷贝区域+DNA结构正常",51059,"8q24.23","NM_015912"]
["32629A(745)v10974",88,88,1,"32629A","FAM13C","chr10:61122268-61122269","c.-49(exon1)_c.-48(exon1)insTA","非编码区","rs3078330",1,1,1,1,0.12,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"FAM13C",1,130,"非编码区",2420,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",220965,"10q21.1","NM_001001971"]
["32629A(745)v11035",53,27,0.5094,"32629A","FAM171A1","chr10:15256194","c.1393C>T(exon8)","p.P465S","rs3814165",0.12,0.14,0.15,0.14,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,2,0,"FAM171A1",1,99,"非同义",12220,"0.5088=29/57","位于基因组单拷贝区域+DNA结构正常",221061,"10p13","NM_001010924"]
["32629A(745)v11090",45,45,1,"32629A","FAM184B","chr4:17660082","c.1928G>A(exon10)","p.R643H","rs1860596",0.6,0.86,0.84,0.88,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"FAM184B",1,76,"非同义",12220,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",27146,"4p16","NM_015688"]
["32629A(745)v11110",111,111,1,"32629A","FAM186A","chr12:50754563","c.559A>C(exon3)","p.K187Q","rs12303082",0.61,0.71,0.71,0.7,0.73,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"FAM186A",1,160,"非同义",12210,"1.0000=118/118","位于基因组单拷贝区域+DNA结构正常",121006,"12q13.12","NM_001145475"]
["32629A(745)v11167",109,53,0.4862,"32629A","FAM200B","chr4:15689928","c.1328G>A(exon2)","p.S443N","rs4235380",0.31,0.49,0.47,0.5,0.45,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FAM200B",1,130,"非同义",12220,"0.4720=59/125","位于基因组多拷贝区域+DNA结构正常",285550,"4p15.32","NM_001145191"]
["32629A(745)v11178",62,27,0.4355,"32629A","FAM205A","chr9:34724796","c.2441A>T(exon4)","p.E814V","rs150496452",0.4,0.56,0.61,0.51,0.5,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"FAM205A",1,72,"非同义",12220,"0.4286=30/70","位于基因组多拷贝区域+DNA结构正常",259308,"9p12","NM_001141917"]
["32629A(745)v11242",353,184,0.5212,"32629A","FAM227B","chr15:49867323","c.547-17C>T(exon8)","非编码区","rs12902107",0.73,0.93,0.94,0.92,0.91,0.93,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"FAM227B",1,190,"非编码区",16202,"0.5113=204/399","位于基因组单拷贝区域+DNA结构正常",196951,"15q21.2","NM_152647"]
["32629A(745)v11299",122,75,0.6148,"32629A","FAM58BP","chr1:200183398","c.707C>A(exon1)","p.T236N","rs10919847",0.66,0.85,0.86,0.84,0.87,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"FAM58BP",1,130,"非同义",12220,"0.6336=83/131","位于基因组多拷贝区域+DNA结构正常",339521,"1q32.1","NM_001105517"]
["32629A(745)v11318",51,51,1,"32629A","FAM69B","chr9:139616742","c.472A>G(exon4)","p.S158G","rs945384",0.83,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19061490,{"$nulls":3},5,null,1,0,"FAM69B",1,41,"非同义",12220,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",138311,"9q34.3","NM_152421"]
["32629A(745)v11375",22,6,0.2727,"32629A","FAM86C1","chr11:71498567","c.-16A>C(exon1)","非编码区","rs12788471",0.45,0.32,0.28,0.36,0.3,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"FAM86C1",1,140,"非编码区",14200,"0.2609=6/23","位于基因组多拷贝区域+DNA结构正常",55199,"11q13.4","NM_018172"]
["32629A(745)v11389",235,102,0.434,"32629A","FAM90A1","chr12:8375052","c.761T>C(exon7)","p.V254A","rs17857269",null,0.44,0.45,0.43,0.44,0.41,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,11,0,"FAM90A1",1,180,"非同义",12320,"0.4075=108/265","位于基因组多拷贝区域+DNA结构正常",55138,"12p13.31","NM_018088"]
["32629A(745)v11450",57,31,0.5439,"32629A","FAR2","chr12:29423583","c.189+12A>G(exon2)","非编码区","rs2194519",0.32,0.33,0.32,0.35,0.33,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"FAR2",1,150,"非编码区",16203,"0.5714=36/63","位于基因组单拷贝区域+DNA结构正常",55711,"12p11.22","NM_018099"]
["32629A(745)v11504",59,36,0.6102,"32629A","FAT1","chr4:187549428","c.4690G>A(exon9)","p.A1564T","rs2304867",0.069,0.22,0.2,0.23,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,30,0,"FAT1",1,100,"非同义",12220,"0.5714=36/63","位于基因组单拷贝区域+DNA结构正常",2195,"4q35","NM_005245"]
["32629A(745)v11521",17,17,1,"32629A","FAT2","chr5:150901300","c.10854C>T(exon18)","p.Y3618Y","rs3734046",0.76,0.95,0.95,0.96,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,25,0,"FAT2",1,83,"同义",13203,"1.0000=19/19","位于基因组单拷贝区域+DNA结构正常",2196,"5q33.1","NM_001447"]
["32629A(745)v11574",33,33,1,"32629A","FBLN2","chr3:13679203","c.3480G>A(exon18)","p.T1160T","rs1061375",0.52,0.62,0.62,0.63,0.66,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"FBLN2",1,46,"同义",13203,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",2199,"3p25.1","NM_001165035"]
["32629A(745)v11580",158,158,1,"32629A","FBN1","chr15:48720526","c.6997+17C>G(exon57)","非编码区","rs363832",0.66,0.63,0.63,0.62,0.62,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19836009,"单纯性晶状体异位","AD",129600,5,1,3,7,"FBN1",1,140,"非编码区",16203,"1.0000=177/177","位于基因组单拷贝区域+DNA结构正常",2200,"15q21.1","NM_000138",null,"rs363832|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v11627",55,13,0.2364,"32629A","FBXL17","chr5:107197420","c.*1C>T(exon9)","非编码区","rs61749621",0.18,0.19,0.18,0.19,0.18,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FBXL17",1,83,"非编码区",14200,"0.2615=17/65","位于基因组单拷贝区域+DNA结构正常",64839,"5q21.3","NM_001163315"]
["32629A(745)v11681",54,53,0.9815,"32629A","FBXO7","chr22:32875190","c.345G>A(exon2)","p.M115I","rs11107",0.49,0.69,0.7,0.68,0.67,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23222517;18513678;19384415","帕金森病15型,AR遗传","AR",260300,5,1,2,1,"FBXO7",1,130,"非同义",12220,"0.9833=59/60","位于基因组单拷贝区域+DNA结构正常",25793,"22q12-q13","NM_012179","MET115ILE|\"Mean_cell_haemoglobin_association_with\"|23222517;rs11107|\"Mean_cell_haemoglobin_association_with\"|23222517","MET115ILE|Benign|NA|NA|criteria provided, single submitter|NA;rs11107|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v11696",93,45,0.4839,"32629A","FCAMR","chr1:207134213","c.1008C>T(exon6)","p.N336N","rs3813955",0.012,0.031,0.019,0.044,0.044,0.066,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"FCAMR",1,100,"同义",13103,"0.4804=49/102","位于基因组单拷贝区域+DNA结构正常",83953,"1q32.1","NM_001170631"]
["32629A(745)v11752",74,74,1,"32629A","FCGR3B","chr1:161600832","c.-280C>A(exon1)","非编码区","rs3883934",0.5,0.4,0.32,0.48,0.45,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"FCGR3B",1,90,"非编码区",14200,"1.0000=84/84","位于基因组多拷贝区域+DNA结构正常",2215,"1q23","NM_001271036"]
["32629A(745)v11782",90,90,1,"32629A","FCRL5","chr1:157509025","c.1253G>A(exon7)","p.G418D","rs2012199",0.84,0.89,0.87,0.92,0.89,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21437268,{"$nulls":3},5,null,6,0,"FCRL5",1,130,"非同义",12220,"1.0000=99/99","位于基因组多拷贝区域+DNA结构正常",83416,"1q21","NM_031281"]
["32629A(745)v11823",52,52,1,"32629A","FER1L6","chr8:125072426","c.2880T>C(exon23)","p.P960P","rs4483140",0.81,0.73,0.73,0.72,0.68,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"FER1L6",1,150,"同义",13203,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",654463,"8q24.1","NM_001039112"]
["32629A(745)v11878",38,24,0.6316,"32629A","FGD6","chr12:95604290","c.770A>G(exon2)","p.Q257R","rs10507047",0.13,0.21,0.19,0.24,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25629512,{"$nulls":3},5,null,6,0,"FGD6",1,120,"非同义",12220,"0.6136=27/44","位于基因组单拷贝区域+DNA结构正常",55785,"12q22","NM_018351","GLN257ARG|\"Macular_degeneration_age_related_reduced_risk\"|25629512"]
["32629A(745)v11904",111,111,1,"32629A","FGFR1OP","chr6:167424293","c.439-8T>C(exon6)","非编码区","rs1322077",0.3,0.28,0.26,0.29,0.29,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FGFR1OP",1,210,"非编码区",16201,"1.0000=130/130","位于基因组单拷贝区域+DNA结构正常",11116,"6q27","NM_007045"]
["32629A(745)v11910",19,19,1,"32629A","FGFR4","chr5:176517461","c.162T>G(exon3)","p.R54R","rs446382",0.78,0.98,0.98,0.98,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"FGFR4",1,58,"同义",13203,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",2264,"5q35.1-qter","NM_213647"]
["32629A(745)v11924",172,90,0.5233,"32629A","FGG","chr4:155525970","c.*16C>T(exon9)","非编码区","rs1049636",0.7,0.83,0.82,0.83,0.79,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16525568;17241179;17263791;18974842;19190816","先天性异常纤维蛋白原血症/异常低纤维蛋白原血症",null,616004,5,2,1,2,"FGG",1,180,"非编码区",14200,"0.5426=102/188","位于基因组单拷贝区域+DNA结构正常",2266,"4q28","NM_021870"]
["32629A(745)v11963",80,36,0.45,"32629A","FILIP1L","chr3:99643176","c.503G>A(exon4)","p.R168H","rs793440",0.25,0.16,0.17,0.16,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"FILIP1L",1,93,"非同义",12220,"0.4742=46/97","位于基因组单拷贝区域+DNA结构正常",11259,"3q12.1","NM_001042459"]
["32629A(745)v11987",45,20,0.4444,"32629A","FLCN","chr17:17124815","c.907G>A(exon8)","p.G303R","rs3744124",0.1,0.17,0.16,0.17,0.21,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24728327;19116017","原发性自发性气胸","AD",173600,5,1,3,4,"FLCN",1,68,"非同义",12220,"0.4510=23/51","位于基因组单拷贝区域+DNA结构正常",201163,"17p11.2","NM_144606",null,"rs3744124|Benign|NA|NA|criteria provided, single submitter|PubMed:24728327"]
["32629A(745)v12009",226,110,0.4867,"32629A","FLG","chr1:152279729","c.7633G>A(exon3)","p.G2545R","rs3126072",0.47,0.61,0.63,0.59,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"寻常性鱼鳞病","AD",146700,5,1,51,2,"FLG",1,270,"非同义",12220,"0.4919=121/246","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016"]
["32629A(745)v12039",213,117,0.5493,"32629A","FLG","chr1:152284854","c.2508T>C(exon3)","p.D836D","rs3120653",0.47,0.61,0.63,0.59,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"特应性皮炎(湿疹)2型",null,605803,5,2,51,2,"FLG",1,270,"同义",13203,"0.5533=135/244","位于基因组多拷贝区域+DNA结构正常",2312,"1q21.3","NM_002016"]
["32629A(745)v12062",75,33,0.44,"32629A","FLJ43860","chr8:142506461","c.221T>C(exon2)","p.L74P","rs2613637",0.62,0.47,0.49,0.45,0.51,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"FLJ43860",1,56,"非同义",12220,"0.4556=41/90","位于基因组单拷贝区域+DNA结构正常",389690,"8q24.3","NM_207414"]
["32629A(745)v12070",76,76,1,"32629A","FLNB","chr3:58112488","c.4221C>T(exon24)","p.P1407P","rs2362904",0.65,0.96,0.98,0.95,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"飞去来器样骨发育不良","AD",112310,5,1,8,5,"FLNB",1,110,"同义",13202,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",2317,"3p14.3","NM_001164317"]
["32629A(745)v12101",97,50,0.5155,"32629A","FLT1","chr13:28893642","c.3204T>C(exon24)","p.P1068P","rs2296189",0.24,0.2,0.2,0.2,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23794399,{"$nulls":3},5,null,7,0,"FLT1",1,130,"同义",13203,"0.5566=59/106","位于基因组单拷贝区域+DNA结构正常",2321,"13q12","NM_002019",null,"rs2296189|not provided|OMIM:114500|NA|no assertion provided|NA"]
["32629A(745)v12111",81,79,0.9753,"32629A","FLT4","chr5:180043388","c.3198C>T(exon23)","p.P1066P","rs1130378",0.24,0.3,0.33,0.26,0.26,0.25,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23490417,"遗传性淋巴水肿1A型","AD",153100,5,1,8,2,"FLT4",1,50,"同义",13203,"0.9783=90/92","位于基因组单拷贝区域+DNA结构正常",2324,"5q35.3","NM_182925"]
["32629A(745)v12145",159,158,0.9937,"32629A","FMN2","chr1:240497265","c.4644+19A>C(exon12)","非编码区","rs10157874",0.65,0.49,0.49,0.49,0.54,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性遗传性精神发育迟滞47型","AR",616193,5,1,6,1,"FMN2",1,120,"非编码区",16203,"0.9944=179/180","位于基因组单拷贝区域+DNA结构正常",56776,"1q43","NM_020066"]
["32629A(745)v12203",36,20,0.5556,"32629A","FNDC1","chr6:159655084","c.3540C>G(exon11)","p.D1180E","rs420054",0.78,0.65,0.61,0.69,0.65,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"FNDC1",0.98,100,"非同义",12220,"0.5610=23/41","位于基因组单拷贝区域+DNA结构正常",84624,"6q25","NM_032532"]
["32629A(745)v12218",106,55,0.5189,"32629A","FNDC3B","chr3:172046861","c.1374T>C(exon12)","p.G458G","rs2270568",0.58,0.54,0.55,0.52,0.54,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"FNDC3B",1,170,"同义",13203,"0.5086=59/116","位于基因组单拷贝区域+DNA结构正常",64778,"3q26.31","NM_022763"]
["32629A(745)v12253",52,19,0.3654,"32629A","FOXA3","chr19:46375779","c.516C>T(exon2)","p.N172N","rs16980091",0.23,0.38,0.4,0.37,0.35,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"FOXA3",1,53,"同义",13203,"0.3519=19/54","位于基因组多拷贝区域+DNA结构正常",3171,"19q13.2-q13.4","NM_004497"]
["32629A(745)v12292",25,8,0.32,"32629A","FOXP4","chr6:41533579","c.81C>A(exon2)","p.A27A","rs2104506",0.39,0.35,0.33,0.37,0.32,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"FOXP4",1,54,"同义",13203,"0.2857=8/28","位于基因组单拷贝区域+DNA结构正常",116113,"6p21.1","NM_001012426"]
["32629A(745)v12343",93,49,0.5269,"32629A","FREM1","chr9:14770803","c.4859T>C(exon27)","p.V1620A","rs190763692",0.0012,0.0048,0,0.0097,0.013,0.013,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"鼻裂或合并肛肠肾脏畸形",null,608980,2,2,10,3,"FREM1",1,140,"非同义",12110,"0.5347=54/101","位于基因组单拷贝区域+DNA结构正常",158326,"9p22.3","NM_144966"]
["32629A(745)v12387",220,137,0.6227,"32629A","FRG1","chr4:190876204","c.330G>A(exon5)","p.K110K","rs3207892",{"$nulls":4},0.51,0.47,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,30,0,"FRG1",1,330,"同义",13303,"0.6270=158/252","位于基因组多拷贝区域+DNA结构正常",2483,"4q35","NM_004477"]
["32629A(745)v12430",769,239,0.3108,"32629A","FRG2C","chr3:75714929","c.586G>A(exon4)","p.A196T","rs148715408",{"$nulls":4},0.46,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,56,0,"FRG2C",1,1000,"非同义",12320,"0.3090=275/890","位于基因组多拷贝区域+DNA结构正常",100288801,"3p12.3","NM_001124759"]
["32629A(745)v12458",22,15,0.6818,"32629A","FRG2C","chr3:75715496","c.*304T>G(exon4)","非编码区","rs76849166",{"$nulls":4},0.53,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,56,0,"FRG2C",1,1000,"非编码区",14300,"0.7200=18/25","位于基因组多拷贝区域+DNA结构正常",100288801,"3p12.3","NM_001124759"]
["32629A(745)v12477",31,31,1,"32629A","FRMD3","chr9:85862793-85862793","c.*40(exon14)delA","非编码区","rs11292389",0.21,0.56,0.57,0.54,0.075,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"FRMD3",0.9,120,"非编码区",2420,"1.0000=32/32","位于基因组单拷贝区域+DNA结构正常",257019,"9q21.32","NM_174938"]
["32629A(745)v12530",96,95,0.9896,"32629A","FSIP2","chr2:186670104","c.16338A>C(exon17)","p.E5446D","rs7576532",0.96,0.93,0.94,0.92,0.94,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"FSIP2",0.43,31,"非同义",12220,"0.9908=108/109","位于基因组单拷贝区域+DNA结构正常",401024,"2q32.1","NM_173651"]
["32629A(745)v12577",51,51,1,"32629A","FUT5","chr19:5866736","c.1001A>G(exon2)","p.H334R","rs778984",{"$nulls":4},0.87,0.87,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,9,0,"FUT5",1,91,"非同义",12320,"1.0000=59/59","位于基因组多拷贝区域+DNA结构正常",2527,"19p13.3","NM_002034"]
["32629A(745)v12600",131,62,0.4733,"32629A","FXYD3","chr19:35614336","c.419-9T>C(exon11)","非编码区","rs1672974",0.6,0.56,0.56,0.56,0.58,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FXYD3",1,95,"非编码区",16202,"0.4830=71/147","位于基因组单拷贝区域+DNA结构正常",5349,"19q13.12","NM_001136007"]
["32629A(745)v12656",153,153,1,"32629A","GABBR2","chr9:101340301","c.375T>G(exon2)","p.P125P","rs2808536",0.73,0.36,0.38,0.34,0.4,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"烟草成瘾易感",null,188890,5,1,3,2,"GABBR2",1,120,"同义",13203,"1.0000=172/172","位于基因组单拷贝区域+DNA结构正常",9568,"9q22.1-q22.3","NM_005458"]
["32629A(745)v12700",10,6,0.6,"32629A","GAD2","chr10:26505496","c.-243A>G(exon1)","非编码区","rs2236418",0.42,0.33,0.33,0.33,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14691540;16122350;17034009;17459095;19111404",{"$nulls":3},5,null,2,0,"GAD2",1,140,"非编码区",14200,"0.6000=6/10","位于基因组单拷贝区域+DNA结构正常",2572,"10p11.23","NM_000818","rs2236418|\"Obesity_association_with\"|14691540"]
["32629A(745)v12726",149,149,1,"32629A","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",245200,5,1,8,1,"GALC",0.93,160,"非编码区",16202,"1.0000=152/152","位于基因组单拷贝区域+DNA结构正常",2581,"14q31","NM_000153",null,"rs448805|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v12787",62,29,0.4677,"32629A","GAL","chr11:68456410","c.301+16T>C(exon5)","非编码区","rs3136540",0.74,0.84,0.83,0.86,0.85,0.85,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",15930442,{"$nulls":3},5,null,2,0,"GAL",1,62,"非编码区",16203,"0.5000=35/70","位于基因组单拷贝区域+DNA结构正常",51083,"11q13.3","NM_015973"]
["32629A(745)v12802",24,8,0.3333,"32629A","GAS2L1","chr22:29704125","c.30C>T(exon2)","p.G10G","rs11090564",0.33,0.29,0.3,0.29,0.33,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GAS2L1",1,38,"同义",13203,"0.3333=8/24","位于基因组单拷贝区域+DNA结构正常",10634,"22q12.2","NM_152237"]
["32629A(745)v12845",15,5,0.3333,"32629A","GBE1","chr3:81810725","c.-57G>A(exon1)","非编码区","rs2290081",0.42,0.53,0.59,0.48,0.51,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"成人葡聚糖体病","AR",263570,5,3,6,2,"GBE1",1,190,"非编码区",14200,"0.3333=5/15","位于基因组单拷贝区域+DNA结构正常",2632,"3p12.3","NM_000158"]
["32629A(745)v12861",91,91,1,"32629A","GBP3","chr1:89479758","c.625+8A>G(exon5)","非编码区","rs3795543",0.64,0.52,0.51,0.52,0.56,0.53,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"GBP3",1,190,"非编码区",16203,"1.0000=101/101","位于基因组多拷贝区域+DNA结构正常",2635,"1p22.2","NM_018284"]
["32629A(745)v12912",74,74,1,"32629A","GCN1L1","chr12:120591143","c.3936T>C(exon33)","p.Y1312Y","rs12312562",0.34,0.58,0.54,0.62,0.55,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"GCN1L1",1,79,"同义",13203,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",10985,"12q24.2","NM_006836"]
["32629A(745)v12958",23,14,0.6087,"32629A","GEMIN4","chr17:648498","c.2785G>A(exon2)","p.D929N","rs2740349",0.89,0.88,0.9,0.87,0.89,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21118967,{"$nulls":3},5,null,5,0,"GEMIN4",1,64,"非同义",12220,"0.5769=15/26","位于基因组单拷贝区域+DNA结构正常",50628,"17p13","NM_015721","rs2740349|\"Ovarian_cancer_reduced_risk_association_with\"|21118967"]
["32629A(745)v12978",3,3,1,"32629A","GFI1","chr1:92941357","c.*229T>C(exon7)","非编码区","rs4970714",0.81,0.94,0.93,0.96,0.94,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20075157,"成人慢性自发性嗜中性粒细胞减少症",null,607847,5,1,2,2,"GFI1",1,70,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",2672,"1p22","NM_005263"]
["32629A(745)v13030",65,43,0.6615,"32629A","GGT1","chr22:25011027","c.315C>T(exon7)","p.N105N","rs112364951",{"$nulls":4},0.43,1.2E-4,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,24,0,"GGT1",1,130,"同义",13303,"0.6528=47/72","位于基因组多拷贝区域+DNA结构正常",2678,"22q11.23","NM_005265"]
["32629A(745)v13049",28,16,0.5714,"32629A","GGT2","chr22:21563155","c.1382C>T(exon11)","p.T461M","rs200276704",0.0084,0.055,0.033,0.078,null,0.1,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,9,0,"GGT2",null,null,"非同义",12110,"0.5625=18/32","位于基因组多拷贝区域+DNA结构正常",728441,"22q11.21","XM_003846303"]
["32629A(745)v13099",3,2,0.6667,"32629A","GJA1","chr6:121769315","c.*173G>A(exon2)","非编码区","rs72548744",0.056,0.15,0.14,0.16,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"并指畸形III型","AD",186100,5,1,1,6,"GJA1",1,82,"非编码区",14200,"0.6667=2/3","位于基因组多拷贝区域+DNA结构正常",2697,"6q21-q23.2","NM_000165"]
["32629A(745)v13126",169,169,1,"32629A","GKAP1","chr9:86354511","c.*101C>G(exon13)","非编码区","rs4750",0.53,0.61,0.59,0.64,0.65,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GKAP1",1,180,"非编码区",14200,"1.0000=192/192","位于基因组单拷贝区域+DNA结构正常",80318,"9q21.32","NM_025211"]
["32629A(745)v13137",61,61,1,"32629A","GLB1","chr3:33138544","c.34T>C(exon1)","p.L12L","rs7614776",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"GM1神经节苷脂贮积病3型","AR",230650,5,1,4,4,"GLB1",1,120,"同义",13203,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",2720,"3p21.33","NM_000404",null,"rs7614776|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v13167",10,10,1,"32629A","GLIPR1","chr12:75893388","c.*630T>A(exon6)","非编码区","rs1056905",0.9,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GLIPR1",1,170,"非编码区",14200,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",11010,"12q21.2","NM_006851"]
["32629A(745)v13185",84,36,0.4286,"32629A","GLP1R","chr6:39040654","c.526A>C(exon6)","p.R176R","rs2235868",0.45,0.44,0.42,0.46,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"GLP1R",1,75,"同义",13203,"0.4444=40/90","位于基因组单拷贝区域+DNA结构正常",2740,"6p21","NM_002062"]
["32629A(745)v13242",43,43,1,"32629A","GLYAT","chr11:58478026","c.*33C>T(exon5)","非编码区","rs675423",0.67,0.57,0.53,0.61,0.56,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GLYAT",1,130,"非编码区",14200,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",10249,"11q12.1","NM_005838"]
["32629A(745)v13288",6,6,1,"32629A","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","假性假甲状旁腺功能减退症","AD",612463,5,1,3,8,"GNAS",1,65,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",2778,"20q13.3","NM_016592"]
["32629A(745)v13298",12,12,1,"32629A","GNB1L","chr22:19776159-19776160","c.*72(exon8)_c.*73(exon8)insC","非编码区","rs3214094",0.18,0.48,0.45,0.51,0.38,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GNB1L",1,38,"非编码区",2420,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",54584,"22q11.2","NM_053004"]
["32629A(745)v13346",75,33,0.44,"32629A","GOLGA5","chr14:93275841","c.969A>G(exon4)","p.E323E","rs17128583",0.14,0.12,0.14,0.1,0.17,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乳头状甲状腺癌","AD",188550,5,1,4,1,"GOLGA5",1,150,"同义",13203,"0.4713=41/87","位于基因组单拷贝区域+DNA结构正常",9950,"14q32.12","NM_005113"]
["32629A(745)v13403",268,266,0.9925,"32629A","GOSR2","chr17:45008570","c.200G>A(exon3)","p.R67K","rs197922",0.35,0.36,0.34,0.38,0.39,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19057520;23313660;23675987","进行性肌阵挛性癫痫6型","AR",614018,5,1,4,1,"GOSR2",1,130,"非同义",12220,"0.9936=312/314","位于基因组多拷贝区域+DNA结构正常",9570,"17q21","NM_004287","ARG67LYS|\"Hypertension_association_with\"|19057520","ARG67LYS|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v13412",6,6,1,"32629A","GP1BA","chr17:4837952-4837953","c.*94(exon2)_c.*95(exon2)insG","非编码区","rs199616811",1,1,1,1,0.64,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"假性血管性血友病/出血性疾病，血小板3型","AD",177820,5,1,4,4,"GP1BA",1,64,"非编码区",2420,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",2811,"17pter-p12","NM_000173"]
["32629A(745)v13443",227,227,1,"32629A","GPBP1","chr5:56526783","c.174G>A(exon4)","p.G58G","rs1130203",0.85,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GPBP1",1,180,"同义",13203,"1.0000=251/251","位于基因组单拷贝区域+DNA结构正常",65056,"5q11.2","NM_022913"]
["32629A(745)v13485",2,2,1,"32629A","GPR111","chr6:47663186-47663187","c.*574(exon11)_c.*575(exon11)insT","非编码区","rs11381711",0.94,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GPR111",1,90,"非编码区",2420,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",222611,"6p12.3","NM_153839"]
["32629A(745)v13542",26,11,0.4231,"32629A","GPR142","chr17:72368550","c.1200T>C(exon4)","p.N400N","rs11658891",0.6,0.4,0.45,0.36,0.38,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GPR142",1,57,"同义",13203,"0.3929=11/28","位于基因组单拷贝区域+DNA结构正常",350383,"17q25.1","NM_181790"]
["32629A(745)v13570",2,2,1,"32629A","GPR158","chr10:25888492","c.*289T>C(exon11)","非编码区","rs74962027",0.019,0.094,0.09,0.097,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"GPR158",1,120,"非编码区",14100,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",57512,"10p12.1","NM_020752"]
["32629A(745)v13615",49,49,1,"32629A","GPR52","chr1:174417231","c.-19G>A(exon1)","非编码区","rs7516240",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GPR52",1,100,"非编码区",14200,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",9293,"1q24","NM_005684"]
["32629A(745)v13652",102,51,0.5,"32629A","GPR98","chr5:90020923","c.9927T>G(exon47)","p.P3309P","rs16869042",{"$nulls":4},0.43,0.38,"杂合","未知","预测范围之外的同义突变",24033266,"尤塞氏综合症IIC型","AR",605472,4,3,22,2,"GPR98",1,170,"同义",13303,"0.4951=51/103","位于基因组单拷贝区域+DNA结构正常",84059,"5q13","NM_032119",null,"rs16869042|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v13660",134,134,1,"32629A","GPR98","chr5:90449031","c.18625-7T>C(exon89)","非编码区","rs7726023",0.9,0.86,0.87,0.84,0.87,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性热性惊厥4型","AD",604352,5,1,22,2,"GPR98",1,170,"非编码区",16201,"1.0000=156/156","位于基因组单拷贝区域+DNA结构正常",84059,"5q13","NM_032119",null,"rs7726023|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32629A(745)v13739",160,72,0.45,"32629A","GRAMD1C","chr3:113594377","c.306A>G(exon4)","p.L102L","rs13079383",0.24,0.29,0.25,0.33,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GRAMD1C",1,220,"同义",13203,"0.4570=85/186","位于基因组单拷贝区域+DNA结构正常",54762,"3q13.31","NM_017577"]
["32629A(745)v13774",338,332,0.9822,"32629A","GRIA2","chr4:158238830","c.687T>C(exon5)","p.H229H","rs4302506",0.66,0.83,0.81,0.84,0.84,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",22057216,{"$nulls":3},5,null,1,0,"GRIA2",1,230,"同义",13203,"0.9850=393/399","位于基因组单拷贝区域+DNA结构正常",2891,"4q32.1","NM_001083619"]
["32629A(745)v13793",213,114,0.5352,"32629A","GRIK2","chr6:102503317","c.2424G>A(exon15)","p.E808E","rs2227283",0.33,0.35,0.33,0.38,0.34,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15389769;16959037;17712621","智力低下6型",null,611092,5,2,4,1,"GRIK2",1,190,"同义",13203,"0.5661=137/242","位于基因组单拷贝区域+DNA结构正常",2898,"6q16.3","NM_001166247",null,"rs2227283|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v13823",54,54,1,"32629A","GRIP2","chr3:14552994","c.2011-7T>C(exon16)","非编码区","rs4685168",0.81,0.81,0.78,0.83,0.78,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"GRIP2",1,69,"非编码区",16202,"1.0000=60/60","位于基因组单拷贝区域+DNA结构正常",80852,"3p24-p23","NM_001080423"]
["32629A(745)v13862",74,74,1,"32629A","GRM8","chr7:126544012","c.1018+14A>G(exon5)","非编码区","rs769199",0.82,0.98,0.97,0.98,0.96,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GRM8",1,140,"非编码区",16203,"1.0000=89/89","位于基因组多拷贝区域+DNA结构正常",2918,"7q31.3-q32.1","NM_001127323"]
["32629A(745)v13921",25,10,0.4,"32629A","GSX2","chr4:54966667","c.156C>T(exon1)","p.S52S","rs3194383",0.6,0.81,0.81,0.82,0.79,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GSX2",1,48,"同义",13203,"0.4000=10/25","位于基因组单拷贝区域+DNA结构正常",170825,"4q12","NM_133267"]
["32629A(745)v13977",68,68,1,"32629A","GUCY2C","chr12:14794062","c.2022C>T(exon18)","p.I674I","rs10772800",0.82,0.99,0.99,0.99,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胎粪性肠梗阻","AR",614665,5,1,4,2,"GUCY2C",1,170,"同义",13203,"1.0000=80/80","位于基因组单拷贝区域+DNA结构正常",2984,"12p12","NM_004963"]
["32629A(745)v14012",89,48,0.5393,"32629A","GZMB","chr14:25100282","c.739T>C(exon5)","p.Y247H","rs2236338",0.29,0.28,0.27,0.29,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12594335;18311812",{"$nulls":3},5,null,7,0,"GZMB",1,100,"非同义",12220,"0.5784=59/102","位于基因组单拷贝区域+DNA结构正常",3002,"14q11.2","NM_004131","TYR247HIS|\"Apoptosis_unable_to_induce_association_with\"|12594335"]
["32629A(745)v14047",23,23,1,"32629A","HACL1","chr3:15643043","c.-73T>C(exon1)","非编码区","rs2019160",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"HACL1",1,180,"非编码区",14200,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",26061,"3p25.1","NM_012260"]
["32629A(745)v14102",72,35,0.4861,"32629A","HAX1","chr1:154245142","c.-58T>G(exon1)","非编码区","rs11265425",0.21,{"$nulls":3},0.47,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性严重嗜中性粒细胞减少症3型","AR",610738,5,3,1,1,"HAX1",1,120,"非编码区",14200,"0.4634=38/82","位于基因组单拷贝区域+DNA结构正常",10456,"1q21.3","NM_006118"]
["32629A(745)v14126",88,88,1,"32629A","HCAR3","chr12:123200693","c.592T>C(exon1)","p.F198L","rs17884481",0.46,0.55,0.48,0.61,0.62,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"HCAR3",1,77,"非同义",12210,"1.0000=98/98","位于基因组多拷贝区域+DNA结构正常",8843,"12q24.31","NM_006018"]
["32629A(745)v14161",85,37,0.4353,"32629A","HDAC3","chr5:141014494","c.165A>G(exon3)","p.Q55Q","rs2530223",0.64,0.34,0.34,0.34,0.31,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20471694;20731616;24120624",{"$nulls":3},5,null,3,0,"HDAC3",1,100,"同义",13203,"0.4176=38/91","位于基因组单拷贝区域+DNA结构正常",8841,"5q31","NM_003883"]
["32629A(745)v14174",76,43,0.5658,"32629A","HDAC9","chr7:18767343","c.1863A>G(exon13)","p.P621P","rs1178127",0.33,0.55,0.55,0.55,0.59,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"HDAC9",1,140,"同义",13203,"0.5506=49/89","位于基因组单拷贝区域+DNA结构正常",9734,"7p21.1","NM_178423"]
["32629A(745)v14235",32,32,1,"32629A","HEATR7A","chr8:145234508","c.300+19G>C(exon5)","非编码区","rs7842771",0.85,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"HEATR7A",1,38,"非编码区",16203,"1.0000=38/38","位于基因组单拷贝区域+DNA结构正常",727957,"8q24.3","NM_032450"]
["32629A(745)v14281",56,52,0.9286,"32629A","HEG1","chr3:124732419-124732420","c.2003(exon6)_c.2004(exon6)insCTCTTCCTCCTCCTCCTC","p.S668delinsSSSSSSS","rs540539937",{"$nulls":4},0.0056,null,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"HEG1",0.98,110,"非移码",2233,"0.9333=56/60","位于基因组单拷贝区域+DNA结构正常",57493,"3q21.2","NM_020733"]
["32629A(745)v14310",18,11,0.6111,"32629A","HELZ2","chr20:62198523","c.2188G>A(exon7)","p.E730K","rs201624376",0.0006,0.0072,0,0.015,2.8E-3,1.4E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,27,0,"HELZ2",1,26,"非同义",12120,"0.5500=11/20","位于基因组单拷贝区域+DNA结构正常",null,null,"NM_001037335"]
["32629A(745)v14354",135,62,0.4593,"32629A","HERC2","chr15:28478799","c.4351+11C>T(exon28)","非编码区","rs72714147",0.16,0.28,0.28,0.28,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精神（智力）发育迟滞38型","AR",615516,5,3,13,2,"HERC2",0.98,130,"非编码区",16203,"0.4497=67/149","位于基因组多拷贝区域+DNA结构正常",8924,"15q13","NM_004667"]
["32629A(745)v14365",191,191,1,"32629A","HERC6","chr4:89319296","c.1027T>C(exon8)","p.F343L","rs17014118",0.56,0.72,0.7,0.73,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23028602,{"$nulls":3},5,null,3,0,"HERC6",1,170,"非同义",12220,"1.0000=213/213","位于基因组单拷贝区域+DNA结构正常",55008,"4q22.1","NM_017912"]
["32629A(745)v14415",79,40,0.5063,"32629A","HHLA1","chr8:133092138","c.752C>T(exon10)","p.P251L","rs2403730",0.26,0.23,0.24,0.22,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"HHLA1",1,150,"非同义",12210,"0.5176=44/85","位于基因组单拷贝区域+DNA结构正常",10086,"8q24","NM_001145095"]
["32629A(745)v14477",22,22,1,"32629A","HIST1H2AA","chr6:25726774","c.-19T>G(exon1)","非编码区","rs4711095",0.35,0.74,0.76,0.72,0.7,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"HIST1H2AA",1,84,"非编码区",14200,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",221613,"6p22.2","NM_170745"]
["32629A(745)v14496",158,78,0.4937,"32629A","HIST1H3D","chr6:26199222","c.-155C>T(exon1)","非编码区","rs113561314",0.11,0.043,0.038,0.049,0.054,0.054,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"HIST1H3D",1,140,"非编码区",14200,"0.4743=83/175","位于基因组多拷贝区域+DNA结构正常",8351,"6p22.1","NM_003530"]
["32629A(745)v14538",130,61,0.4692,"32629A","HK2","chr2:75113657","c.2076C>T(exon15)","p.N692N","rs2229626",0.51,0.39,0.42,0.37,0.41,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"HK2",1,96,"同义",13203,"0.4783=66/138","位于基因组多拷贝区域+DNA结构正常",3099,"2p13","NM_000189"]
["32629A(745)v14561",166,166,1,"32629A","HMCN1","chr1:186026474","c.7253T>C(exon46)","p.I2418T","rs12129650",0.53,0.61,0.56,0.67,0.65,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"年龄相关性黄斑变性1型",null,603075,5,1,9,1,"HMCN1",1,180,"非同义",12210,"1.0000=187/187","位于基因组单拷贝区域+DNA结构正常",83872,"1q25.3-q31.1","NM_031935"]
["32629A(745)v14608",26,13,0.5,"32629A","HNF1A","chr12:121435342","c.1375C>T(exon7)","p.L459L","rs2259820",0.32,0.47,0.48,0.47,0.48,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年轻起病成人型糖尿病3型","AD",600496,5,1,7,6,"HNF1A",1,66,"同义",13203,"0.5357=15/28","位于基因组单拷贝区域+DNA结构正常",6927,"12q24.2","NM_000545",null,"rs2259820|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v14640",44,16,0.3636,"32629A","HNRNPCL1","chr1:12907469","c.674G>C(exon2)","p.S225T","rs200710956",{"$nulls":4},0.17,0.00023,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"HNRNPCL1",1,150,"非同义",12320,"0.3617=17/47","位于基因组多拷贝区域+DNA结构正常",343069,"1p36.21","NM_001013631"]
["32629A(745)v14659",155,81,0.5226,"32629A","HNRNPH1","chr5:179045142","c.715+4C>T(exon6)","非编码区","rs4701143",0.34,0.7,0.7,0.7,0.67,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"HNRNPH1",1,180,"非编码区",16202,"0.5087=88/173","位于基因组单拷贝区域+DNA结构正常",3187,"5q35.3","NM_001257293"]
["32629A(745)v14715",17,6,0.3529,"32629A","HOXD9","chr2:176988290-176988291","c.794(exon1)_c.795(exon1)insGCA","p.P265delinsPQ","rs56007470",null,0.39,0.37,0.41,0.21,0.39,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"HOXD9",1,51,"非移码",2233,"0.4444=8/18","位于基因组单拷贝区域+DNA结构正常",3235,"2q31.1","NM_014213"]
["32629A(745)v14729",69,25,0.3623,"32629A","HPS1","chr10:100184062","c.1397+8G>T(exon14)","非编码区","rs2296433",0.26,0.38,0.32,0.45,0.38,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"赫曼斯基-普德拉克综合征1型","AR",203300,5,3,14,1,"HPS1",1,71,"非编码区",16203,"0.4304=34/79","位于基因组单拷贝区域+DNA结构正常",3257,"10q23.1-q23.3","NM_000195",null,"rs2296433|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v14779",145,35,0.2414,"32629A","HRNR","chr1:152187628","c.6477T>C(exon3)","p.Y2159Y","rs75639578",{"$nulls":4},0.2,0.3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,36,0,"HRNR",1,360,"同义",13303,"0.2281=39/171","位于基因组多拷贝区域+DNA结构正常",388697,"1q21.3","NM_001009931"]
["32629A(745)v14836",3,3,1,"32629A","HSD17B13","chr4:88225032-88225033","c.*1337(exon7)_c.*1338(exon7)insTAAC","非编码区","rs60721737",0.83,0.69,0.69,0.7,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"HSD17B13",1,150,"非编码区",2420,"1.0000=3/3","位于基因组单拷贝区域+简单重复结构",345275,"4q22.1","NM_178135"]
["32629A(745)v14847",80,43,0.5375,"32629A","HSD17B7","chr1:162760551","c.-40C>T(exon1)","非编码区","rs1704754",0.53,0.57,0.56,0.58,0.56,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24560990,{"$nulls":3},5,null,3,0,"HSD17B7",1,150,"非编码区",14200,"0.5269=49/93","位于基因组多拷贝区域+DNA结构正常",51478,"1q23","NM_016371"]
["32629A(745)v14907",48,25,0.5208,"32629A","HSPD1","chr2:198362018","c.273A>G(exon3)","p.K91K","rs8539",0.65,0.48,0.43,0.53,0.57,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16978514;18320357;18571143","遗传性痉挛性截瘫13型","AD",605280,5,1,1,2,"HSPD1",1,130,"同义",13203,"0.5094=27/53","位于基因组多拷贝区域+DNA结构正常",3329,"2q33.1","NM_002156",null,"rs8539|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v14918",29,29,1,"32629A","HSPG2","chr1:22206942","c.2109C>T(exon16)","p.A703A","rs1874793",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Silverman-Handmaker综合征","AR",224410,5,1,15,2,"HSPG2",1,59,"同义",13203,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",3339,"1p36.1-p34","NM_005529"]
["32629A(745)v14949",36,36,1,"32629A","HTR3D","chr3:183756780","c.*17A>C(exon8)","非编码区","rs6765152",0.78,0.9,0.92,0.87,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"HTR3D",1,96,"非编码区",14200,"1.0000=43/43","位于基因组多拷贝区域+DNA结构正常",200909,"3q27.1","NM_001163646"]
["32629A(745)v15009",188,38,0.2021,"32629A","HYDIN","chr16:70916556","c.10215+7C>T(exon60)","非编码区","rs9932260",0.021,0.0024,0.0048,0,0.11,1.4E-3,"杂合","未知","内含子突变可能影响调控",null,"原发性纤毛运动障碍5型","AR",608647,4,3,89,1,"HYDIN",1,290,"非编码区",16103,"0.1914=40/209","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974"]
["32629A(745)v15027",174,70,0.4023,"32629A","HYDIN","chr16:70954809","c.7470G>T(exon46)","p.A2490A","rs1798530",{"$nulls":4},0.5,null,"杂合","未知","预测范围之外的同义突变",null,"原发性纤毛运动障碍5型","AR",608647,4,3,89,1,"HYDIN",1,290,"同义",13303,"0.3842=73/190","位于基因组单拷贝区域+DNA结构正常",54768,"16q22.2","NM_001270974"]
["32629A(745)v15084",105,54,0.5143,"32629A","IARS2","chr1:220319007","c.2896+12A>G(exon22)","非编码区","rs75519000",0.069,0.065,0.062,0.068,0.063,0.063,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"白内障，生长激素缺乏，感觉神经病变，感觉神经性耳聋和骨骼发育异常","AR",616007,5,3,4,1,"IARS2",1,200,"非编码区",16203,"0.5175=59/114","位于基因组单拷贝区域+DNA结构正常",55699,"1q41","NM_018060"]
["32629A(745)v15099",5,2,0.4,"32629A","ID4","chr6:19837966","c.-20T>C(exon1)","非编码区","rs1047316",0.38,0.25,0.27,0.24,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ID4",1,29,"非编码区",14200,"0.4000=2/5","位于基因组单拷贝区域+DNA结构正常",3400,"6p22.3","NM_001546"]
["32629A(745)v15152",66,65,0.9848,"32629A","IFITM2","chr11:308363","c.171G>C(exon1)","p.V57V","rs1058935",0.84,1,1,0.99,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"IFITM2",1,69,"同义",13203,"0.9863=72/73","位于基因组多拷贝区域+DNA结构正常",10581,"11p15.5","NM_006435"]
["32629A(745)v15179",303,142,0.4686,"32629A","IFNA4","chr9:21187121","c.410A>T(exon1)","p.E137V","rs3750480",0.23,0.39,0.4,0.39,0.35,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"IFNA4",1,330,"非同义",12210,"0.4563=162/355","位于基因组多拷贝区域+DNA结构正常",3441,"9p22","NM_021068"]
["32629A(745)v15211",102,50,0.4902,"32629A","IFT140","chr16:1614097","c.1968T>C(exon17)","p.S656S","rs8048410",0.51,0.53,0.57,0.49,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","MAINZER-SALDINO综合征","AR",266920,5,3,7,1,"IFT140",1,51,"同义",13203,"0.5000=60/120","位于基因组单拷贝区域+DNA结构正常",9742,"16p13.3","NM_014714",null,"rs8048410|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v15272",72,41,0.5694,"32629A","IGFN1","chr1:201175715","c.1694G>T(exon12)","p.R565L","rs1341631",0.76,0.67,0.66,0.67,0.66,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"IGFN1",1,170,"非同义",12220,"0.5616=41/73","位于基因组单拷贝区域+DNA结构正常",91156,"1q32.1","NM_001164586"]
["32629A(745)v15286",41,17,0.4146,"32629A","IGHMBP2","chr11:68671393","c.-28C>A(exon1)","非编码区","rs117368938",0.008,0.046,0.033,0.058,0.039,0.06,"杂合","未知","UTR突变可能影响蛋白翻译",null,"Charcot-Marie-Tooth病（腓骨肌萎缩症）轴索型，2S型","AR",616155,3,3,7,2,"IGHMBP2",1,74,"非编码区",14100,"0.4186=18/43","位于基因组单拷贝区域+DNA结构正常",3508,"11q13.3","NM_002180"]
["32629A(745)v15357",13,13,1,"32629A","IGSF9","chr1:159898100","c.3078T>C(exon19)","p.S1026S","rs3747615",0.5,0.68,0.65,0.71,0.67,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"IGSF9",1,54,"同义",13203,"1.0000=13/13","位于基因组单拷贝区域+DNA结构正常",57549,"1q22-q23","NM_001135050"]
["32629A(745)v15393",8,8,1,"32629A","IL16","chr15:81601322","c.*183A>G(exon19)","非编码区","rs859",0.37,0.48,0.5,0.45,0.49,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17327408;18633131;18676870;19066394",{"$nulls":3},5,null,4,0,"IL16",1,95,"非编码区",14200,"1.0000=9/9","位于基因组单拷贝区域+DNA结构正常",3603,"15q26.3","NM_001172128"]
["32629A(745)v15408",8,3,0.375,"32629A","IL18RAP","chr2:103068787","c.*146G>A(exon12)","非编码区","rs7559479",0.69,0.55,0.59,0.51,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"IL18RAP",1,150,"非编码区",14200,"0.4000=4/10","位于基因组单拷贝区域+DNA结构正常",8807,"2q12","NM_003853"]
["32629A(745)v15464",192,191,0.9948,"32629A","IL36A","chr2:113763463","c.10+5A>C(exon1)","非编码区","rs2305152",0.28,0.33,0.33,0.33,0.35,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"IL36A",1,130,"非编码区",16202,"0.9952=208/209","位于基因组单拷贝区域+DNA结构正常",27179,"2q12-q14.1","NM_014440"]
["32629A(745)v15504",3,3,1,"32629A","IMPAD1","chr8:57906269","c.-125C>T(exon1)","非编码区","rs1057409",0.16,0.18,0.14,0.21,0.12,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"软骨发育不良伴关节脱位","AR",614078,5,1,2,1,"IMPAD1",1,99,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",54928,"8q12.1","NM_017813"]
["32629A(745)v15516",105,42,0.4,"32629A","INADL","chr1:62456014","c.3845G>A(exon28)","p.R1282H","rs1134767",0.47,0.44,0.49,0.4,0.48,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"INADL",1,190,"非同义",12220,"0.3932=46/117","位于基因组单拷贝区域+DNA结构正常",10207,"1p31.3","NM_176877"]
["32629A(745)v15570",90,44,0.4889,"32629A","INPP5E","chr9:139324740","c.1791G>A(exon9)","p.P597P","rs10870182",0.13,0.16,0.18,0.15,0.16,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","智力低下伴肢体肥大、视网膜发育不良、小阴茎/MORM综合征","AR",610156,5,3,6,2,"INPP5E",1,39,"同义",13203,"0.4700=47/100","位于基因组单拷贝区域+DNA结构正常",56623,"9q34.3","NM_019892",null,"rs10870182|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v15593",67,67,1,"32629A","INS","chr11:2182004","c.187+11T>C(exon1)","非编码区","rs5506",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19434426,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,4,3,"INS",1,27,"非编码区",16203,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",3630,"11p15.5","NM_001185098"]
["32629A(745)v15622",61,61,1,"32629A","IPO4","chr14:24653954","c.1538C>T(exon16)","p.A513V","rs7146310",0.32,0.4,0.4,0.41,0.41,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"IPO4",1,71,"非同义",12220,"1.0000=64/64","位于基因组单拷贝区域+DNA结构正常",79711,"14q12","NM_024658"]
["32629A(745)v15683",28,28,1,"32629A","IQSEC3","chr12:284058","c.3408T>C(exon14)","p.G1136G","rs216230",0.92,0.87,0.86,0.87,0.85,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"IQSEC3",1,58,"同义",13203,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",440073,"12p13.33","NM_001170738"]
["32629A(745)v15713",78,46,0.5897,"32629A","IRF6","chr1:209968684","c.459G>T(exon5)","p.S153S","rs2013162",0.4,0.56,0.55,0.57,0.57,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15558496;17438386;18278815;18978678;19521098","VanDerWoude综合征1型","AD",119300,5,1,2,3,"IRF6",1,66,"同义",13203,"0.6136=54/88","位于基因组单拷贝区域+DNA结构正常",3664,"1q32.3-q41","NM_006147"]
["32629A(745)v15746",29,29,1,"32629A","ISG15","chr1:948921","c.-33T>C(exon1)","非编码区","rs15842",0.9,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"免疫缺陷38","AR",616126,5,1,5,1,"ISG15",1,44,"非编码区",14200,"1.0000=35/35","位于基因组单拷贝区域+DNA结构正常",9636,"1p36.33","NM_005101"]
["32629A(745)v15760",91,41,0.4505,"32629A","ISPD","chr7:16348262-16348263","c.685-11(exon4)_c.685-10(exon4)insGTT","非编码区","rs201001105",0.073,0.14,0.15,0.13,0.078,0.17,"杂合","未知","内含子突变","CLINVAR数据库","肌营养不良-抗肌萎缩相关糖蛋白病（肢带型），C、7型","AR",616052,4,3,7,2,"ISPD",1,140,"非编码区",2500,"0.4400=44/100","位于基因组单拷贝区域+简单重复结构",729920,"7p21.2","NM_001101426",null,"rs142647500|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v15811",34,18,0.5294,"32629A","ITGA6","chr2:173292713","c.182+15C>T(exon1)","非编码区","rs6716540",0.49,0.85,0.88,0.82,0.82,0.85,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"大疱性表皮松解与幽门闭锁","AR",226730,5,3,5,1,"ITGA6",1,160,"非编码区",16203,"0.5897=23/39","位于基因组单拷贝区域+DNA结构正常",3655,"2q31.1","NM_000210"]
["32629A(745)v15848",61,29,0.4754,"32629A","ITGB3","chr17:45368337","c.1143A>C(exon9)","p.V381V","rs15908",0.43,0.54,0.57,0.5,0.56,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20361340;23628433;25280596;8878424","心肌梗塞,易感1型",null,608446,5,2,5,3,"ITGB3",1,89,"同义",13203,"0.5000=34/68","位于基因组单拷贝区域+DNA结构正常",3690,"17q21.32","NM_000212"]
["32629A(745)v15866",188,186,0.9894,"32629A","ITGBL1","chr13:102220193","c.460G>T(exon3)","p.A154S","rs1140605",0.12,0.16,0.17,0.15,0.14,0.15,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ITGBL1",1,170,"非同义",12220,"0.9909=218/220","位于基因组单拷贝区域+DNA结构正常",9358,"13q33","NM_004791"]
["32629A(745)v15918",111,55,0.4955,"32629A","ITPR2","chr12:26810816","c.2016A>C(exon18)","p.S672S","rs2291263",0.28,0.57,0.6,0.54,0.52,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ITPR2",1,170,"同义",13203,"0.4959=60/121","位于基因组单拷贝区域+DNA结构正常",3709,"12p11","NM_002223"]
["32629A(745)v15954",135,46,0.3407,"32629A","JAK1","chr1:65310489","c.2199A>G(exon16)","p.P733P","rs2230588",0.37,0.26,0.26,0.27,0.3,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15657875;19434718;23670291",{"$nulls":3},5,null,5,0,"JAK1",1,120,"同义",13203,"0.3268=50/153","位于基因组单拷贝区域+DNA结构正常",3716,"1p32.3-p31.3","NM_002227"]
["32629A(745)v15984",110,50,0.4545,"32629A","JMJD1C","chr10:64927823","c.7605G>C(exon26)","p.E2535D","rs1935",0.39,0.36,0.37,0.35,0.33,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,6,0,"JMJD1C",1,120,"非同义",12220,"0.5000=63/126","位于基因组单拷贝区域+DNA结构正常",221037,"10q21.3","NM_032776"]
["32629A(745)v16045",95,37,0.3895,"32629A","KANK1","chr9:712599","c.1833C>T(exon4)","p.N611N","rs11789987",0.25,0.12,0.11,0.14,0.15,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脑性瘫痪,痉挛性四肢瘫3型/常染色体隐性遗传的痉挛性截瘫50",null,612900,5,2,5,1,"KANK1",1,98,"同义",13203,"0.3868=41/106","位于基因组单拷贝区域+DNA结构正常",23189,"9p24.3","NM_001256877"]
["32629A(745)v16060",110,56,0.5091,"32629A","KANSL1","chr17:44117135","c.2136G>A(exon8)","p.P712P","rs2277613",0.13,0.45,0.42,0.49,0.47,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","KOOLEN综合征","AD",610443,5,1,3,1,"KANSL1",1,77,"同义",13203,"0.5038=67/133","位于基因组单拷贝区域+DNA结构正常",284058,"17q21.31","NM_001193466",null,"rs2277613|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v16109",11,5,0.4545,"32629A","KCNA1","chr12:5020435","c.-110G>A(exon2)","非编码区","rs35678382",0.16,0.17,0.2,0.14,0.17,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"间歇性共济失调1型","AD",160120,5,1,5,1,"KCNA1",1,90,"非编码区",14200,"0.4545=5/11","位于基因组单拷贝区域+DNA结构正常",3736,"12p13.32","NM_000217"]
["32629A(745)v16133",33,33,1,"32629A","KCNF1","chr2:11053020","c.468A>G(exon1)","p.A156A","rs3732104",0.89,0.97,0.98,0.95,0.96,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KCNF1",1,37,"同义",13203,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",3754,"2p25","NM_002236"]
["32629A(745)v16185",77,25,0.3247,"32629A","KCNJ12","chr17:21319285","c.631C>T(exon3)","p.L211F","rs72846667",{"$nulls":4},0.42,0.49,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,60,0,"KCNJ12",1,110,"非同义",12310,"0.3293=27/82","位于基因组多拷贝区域+DNA结构正常",3768,"17p11.2","NM_021012"]
["32629A(745)v16237",69,42,0.6087,"32629A","KCNK10","chr14:88658559","c.868+9C>A(exon5)","非编码区","rs2277525",0.23,0.44,0.45,0.42,0.44,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"KCNK10",1,87,"非编码区",16203,"0.6164=45/73","位于基因组单拷贝区域+DNA结构正常",54207,"14q31.3","NM_138317"]
["32629A(745)v16253",40,20,0.5,"32629A","KCNK16","chr6:39290200","c.117G>A(exon1)","p.A39A","rs3734619",0.39,0.37,0.36,0.37,0.36,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"KCNK16",1,81,"同义",13203,"0.5000=20/40","位于基因组单拷贝区域+DNA结构正常",83795,"6p21.2-p21.1","NM_001135105"]
["32629A(745)v16301",102,50,0.4902,"32629A","KCNV2","chr9:2717922","c.183C>G(exon1)","p.G61G","rs10967705",null,0.75,0.72,0.77,0.77,null,"杂合","未知","预测范围之外的同义突变",23757202,"视锥细胞营养不良3b型","AR",610356,4,3,4,1,"KCNV2",1,50,"同义",13303,"0.4954=54/109","位于基因组单拷贝区域+DNA结构正常",169522,"9p24.2","NM_133497",null,"rs10967705|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v16320",81,80,0.9877,"32629A","KCTD18","chr2:201371768","c.-29C>A(exon2)","非编码区","rs3739116",0.76,0.81,0.81,0.81,0.81,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KCTD18",1,130,"非编码区",14200,"0.9899=98/99","位于基因组单拷贝区域+DNA结构正常",130535,"2q33.1","NM_152387"]
["32629A(745)v16371",157,73,0.465,"32629A","KDM5A","chr12:406292","c.4149C>T(exon25)","p.S1383S","rs2229351",0.35,0.51,0.53,0.49,0.52,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"KDM5A",1,130,"同义",13203,"0.4602=81/176","位于基因组单拷贝区域+DNA结构正常",5927,"12p11","NM_001042603"]
["32629A(745)v16432",40,22,0.55,"32629A","KIAA0284","chr14:105344293","c.267C>T(exon4)","p.F89F","rs61995995",0.35,0.19,0.2,0.19,0.21,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"KIAA0284",1,47,"同义",13203,"0.5778=26/45","位于基因组单拷贝区域+DNA结构正常",283638,"14q32.33","NM_001112726"]
["32629A(745)v16451",47,29,0.617,"32629A","KIAA0368","chr9:114176902","c.2328G>A(exon20)","p.A776A","rs192111516",0.0008,0.0096,0.0095,0.0097,0.0052,2.8E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"KIAA0368",0.99,160,"同义",13103,"0.6200=31/50","位于基因组单拷贝区域+DNA结构正常",23392,"9q31.3","NM_001080398"]
["32629A(745)v16508",80,45,0.5625,"32629A","KIAA0947","chr5:5462620","c.3173G>A(exon13)","p.G1058D","rs3806874",0.11,0.3,0.35,0.25,0.27,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"KIAA0947",1,130,"非同义",12220,"0.5464=53/97","位于基因组单拷贝区域+DNA结构正常",23379,"5p15.32","NM_015325"]
["32629A(745)v16526",39,20,0.5128,"32629A","KIAA1161","chr9:34372873","c.69G>C(exon2)","p.U23Y","rs4879782",0.8,0.96,0.96,0.96,0.94,0.95,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KIAA1161",1,38,"非同义",12230,"0.5250=21/40","位于基因组单拷贝区域+DNA结构正常",57462,"9p13.3","NM_020702"]
["32629A(745)v16583",234,128,0.547,"32629A","KIAA1432","chr9:5762600","c.2052G>A(exon18)","p.R684R","rs3739646",0.075,0.072,0.057,0.087,0.073,0.077,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"KIAA1432",0.97,170,"同义",13203,"0.5692=144/253","位于基因组单拷贝区域+DNA结构正常",57589,"9p24.1","NM_020829"]
["32629A(745)v16640",49,17,0.3469,"32629A","KIAA1644","chr22:44681612","c.295T>C(exon4)","p.L99L","rs135388",0.47,0.32,0.33,0.32,0.34,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"KIAA1644",1,75,"同义",13203,"0.3462=18/52","位于基因组单拷贝区域+DNA结构正常",85352,"-","NM_001099294"]
["32629A(745)v16655",31,10,0.3226,"32629A","KIAA1683","chr19:18375882","c.2468C>G(exon3)","p.P823R","rs12608777",0.15,0.34,0.32,0.35,0.33,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"KIAA1683",1,42,"非同义",12220,"0.3143=11/35","位于基因组单拷贝区域+DNA结构正常",80726,"19p13.1","NM_001145304"]
["32629A(745)v16715",23,13,0.5652,"32629A","KIAA2026","chr9:6007500","c.288C>T(exon1)","p.G96G","rs1061767",0.17,0.34,0.34,0.35,0.34,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"KIAA2026",1,120,"同义",13203,"0.5833=14/24","位于基因组单拷贝区域+DNA结构正常",158358,"9p24.1","NM_001017969"]
["32629A(745)v16760",63,31,0.4921,"32629A","KIF1B","chr1:10431329","c.4808+9C>T(exon43)","非编码区","rs72867431",0.043,0.065,0.062,0.068,0.1,0.088,"杂合","未知","内含子突变可能影响调控",null,"恰克-马利-杜斯氏症2A1型，轴索型","AD",118210,4,1,5,3,"KIF1B",1,140,"非编码区",16103,"0.5278=38/72","位于基因组单拷贝区域+DNA结构正常",23095,"1p36.2","NM_015074"]
["32629A(745)v16775",92,92,1,"32629A","KIF22","chr16:29814234","c.1221G>A(exon9)","p.V407V","rs2450399",0.9,0.95,0.93,0.96,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脊柱骨骺干骺端发育不良伴关节松弛2型","AD",603546,5,1,3,1,"KIF22",1,64,"同义",13203,"1.0000=103/103","位于基因组单拷贝区域+DNA结构正常",3835,"16p11.2","NM_001256270"]
["32629A(745)v16835",21,8,0.381,"32629A","KIFC3","chr16:57805176","c.699T>C(exon6)","p.L233L","rs2967165",0.67,0.6,0.6,0.6,0.56,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KIFC3",1,41,"同义",13203,"0.3333=9/27","位于基因组单拷贝区域+DNA结构正常",3801,"16q13-q21","NM_001130100"]
["32629A(745)v16845",327,184,0.5627,"32629A","KIR2DL4","chr19:55317456","c.412G>A(exon4)","p.A138T","rs1051454",0.52,0.71,0.69,0.74,0.59,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"KIR2DL4",1,420,"非同义",12220,"0.5613=206/367","位于基因组多拷贝区域+DNA结构正常",3805,"19q13.4","NM_002255"]
["32629A(745)v16901",85,48,0.5647,"32629A","KLF17","chr1:44595426","c.483G>A(exon2)","p.S161S","rs2429050",0.28,0.45,0.49,0.42,0.46,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KLF17",1,79,"同义",13203,"0.5962=62/104","位于基因组单拷贝区域+DNA结构正常",128209,"1p34.1","NM_173484"]
["32629A(745)v16921",34,17,0.5,"32629A","KLHDC7A","chr1:18807938","c.463C>A(exon1)","p.P155T","rs2992754",0.27,0.62,0.6,0.65,0.65,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"KLHDC7A",1,38,"非同义",12220,"0.5385=21/39","位于基因组单拷贝区域+DNA结构正常",127707,"1p36.13","NM_152375"]
["32629A(745)v16975",75,75,1,"32629A","KLHL31","chr6:53519605","c.466G>A(exon2)","p.V156I","rs3799260",0.86,0.89,0.89,0.89,0.88,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"KLHL31",1,86,"非同义",12220,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",401265,"6p12.1","NM_001003760"]
["32629A(745)v17032",6,6,1,"32629A","KLK3","chr19:51363661","c.*789G>A(exon5)","非编码区","rs6998",0.26,0.4,0.4,0.4,0.43,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"KLK3",1,100,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",354,"19q13.41","NM_001030047"]
["32629A(745)v17047",209,209,1,"32629A","KLRC1","chr12:10603670","c.86A>G(exon3)","p.N29S","rs2253849",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"KLRC1",1,310,"非同义",12230,"1.0000=246/246","位于基因组多拷贝区域+DNA结构正常",3821,"12p13","NM_213658"]
["32629A(745)v17108",5,5,1,"32629A","KRAS","chr12:25359465-25359465","c.*3385(exon6)delT","非编码区","rs34176876",0.55,0.78,0.79,0.76,0,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"线状皮脂腺痣综合征/表皮痣综合征",null,163200,5,1,5,9,"KRAS",1,140,"非编码区",2420,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",3845,"12p12.1","NM_033360"]
["32629A(745)v17124",30,30,1,"32629A","KRI1","chr19:10670184","c.1063G>C(exon12)","p.E355Q","rs3826709",0.62,0.71,0.71,0.7,0.71,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"KRI1",1,56,"非同义",12220,"1.0000=32/32","位于基因组单拷贝区域+DNA结构正常",65095,"19p13.2","NM_023008"]
["32629A(745)v17137",27,14,0.5185,"32629A","KRT13","chr17:39657337","c.*171G>T(exon8)","非编码区","rs903",0.69,0.47,0.39,0.56,0.5,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"白色海绵状痣综合征2型","AD",615785,5,1,7,1,"KRT13",1,120,"非编码区",14200,"0.4667=14/30","位于基因组单拷贝区域+DNA结构正常",3860,"17q12-q21.2","NM_153490"]
["32629A(745)v17167",73,73,1,"32629A","KRT19","chr17:39680796","c.661-4A>T(exon4)","非编码区","rs1869720",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KRT19",1,68,"非编码区",16202,"1.0000=78/78","位于基因组多拷贝区域+DNA结构正常",3880,"17q21.2","NM_002276"]
["32629A(745)v17190",97,46,0.4742,"32629A","KRT27","chr17:38936659","c.577G>A(exon3)","p.G193S","rs17558560",0.35,0.65,0.7,0.6,0.65,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"KRT27",1,140,"非同义",12210,"0.4775=53/111","位于基因组单拷贝区域+DNA结构正常",342574,"17q21.2","NM_181537"]
["32629A(745)v17227",43,19,0.4419,"32629A","KRT39","chr17:39123131-39123132","c.-24(exon1)_c.-23(exon1)insA","非编码区","rs374639710",{"$nulls":4},0.15,0.18,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"KRT39",1,120,"非编码区",2430,"0.4545=20/44","位于基因组单拷贝区域+DNA结构正常",390792,"17q21.2","NM_213656"]
["32629A(745)v17272",5,5,1,"32629A","KRT6C","chr12:52862525","c.*321T>C(exon9)","非编码区","rs372790",0.49,0.7,0.7,0.7,0.77,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"点状或弥漫性非表皮松懈型掌跖角化病","AD",615735,5,1,16,1,"KRT6C",1,130,"非编码区",14200,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",286887,"12q13.13","NM_173086"]
["32629A(745)v17302",64,64,1,"32629A","KRT74","chr12:52965722","c.747+6A>G(exon3)","非编码区","rs673363",0.81,0.72,0.76,0.68,0.68,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常显性遗传羊毛卷发","AD",194300,5,1,5,2,"KRT74",1,93,"非编码区",16202,"1.0000=71/71","位于基因组单拷贝区域+DNA结构正常",121391,"12q13.13","NM_175053"]
["32629A(745)v17342",39,9,0.2308,"32629A","KRT81","chr12:52685096","c.154G>C(exon1)","p.G52R","rs2071588",0.28,0.4,0.44,0.36,0.3,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22628999,"念珠状发","AD",158000,5,1,9,1,"KRT81",1,130,"非同义",12210,"0.2250=9/40","位于基因组多拷贝区域+DNA结构正常",3887,"12q13","NM_002281","GLY52ARG|\"Monilethrix\"|22628999"]
["32629A(745)v17357",51,25,0.4902,"32629A","KRT84","chr12:52774158","c.1413C>T(exon7)","p.G471G","rs951772",0.33,0.23,0.25,0.22,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"KRT84",1,86,"同义",13203,"0.4754=29/61","位于基因组多拷贝区域+DNA结构正常",3890,"12q13","NM_033045"]
["32629A(745)v17418",97,58,0.5979,"32629A","KRTAP10-5","chr21:45999908","c.548T>G(exon1)","p.F183C","rs380585",0.15,0.2,0.18,0.21,0.2,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"KRTAP10-5",1,99,"非同义",12220,"0.5913=68/115","位于基因组多拷贝区域+DNA结构正常",386680,"21q22.3","NM_198694"]
["32629A(745)v17458",35,14,0.4,"32629A","KRTAP12-4","chr21:46074202","c.330T>C(exon1)","p.T110T","rs9984726",0.79,0.66,0.69,0.63,0.65,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"KRTAP12-4",1,79,"同义",13203,"0.4054=15/37","位于基因组单拷贝区域+DNA结构正常",386684,"21q22.3","NM_198698"]
["32629A(745)v17489",134,134,1,"32629A","KRTAP4-1","chr17:39340707","c.343G>A(exon2)","p.A115T","rs398825",0.95,0.94,0.97,0.91,0.95,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"KRTAP4-1",1,130,"非同义",12230,"1.0000=139/139","位于基因组单拷贝区域+DNA结构正常",85285,"17q12-q21","NM_033060"]
["32629A(745)v17550",39,39,1,"32629A","KRTAP9-1","chr17:39346518","c.380T>C(exon1)","p.I127T","rs238824",0.96,0.94,0.97,0.91,null,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KRTAP9-1",null,null,"非同义",12220,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",728318,"17q21.2","NM_001190460"]
["32629A(745)v17587",5,5,1,"32629A","KRTAP9-9","chr17:39412372","c.*225G>C(exon1)","非编码区","rs2007206",0.67,0.62,0.62,0.63,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KRTAP9-9",null,null,"非编码区",14200,"1.0000=5/5","位于基因组多拷贝区域+DNA结构正常",81870,"17q21.2","NM_030975"]
["32629A(745)v17623",19,9,0.4737,"32629A","LAG3","chr12:6887020","c.1364T>C(exon7)","p.I455T","rs870849",0.67,0.83,0.86,0.79,0.83,0.85,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16519819;17708757",{"$nulls":3},5,null,1,0,"LAG3",1,53,"非同义",12220,"0.4737=9/19","位于基因组单拷贝区域+DNA结构正常",3902,"12p13.32","NM_002286"]
["32629A(745)v17672",25,10,0.4,"32629A","LAMA5","chr20:60897487","c.6184G>A(exon47)","p.D2062N","rs2274934",0.48,0.76,0.74,0.77,0.57,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18694491,{"$nulls":3},5,null,27,0,"LAMA5",1,43,"非同义",12220,"0.3226=10/31","位于基因组单拷贝区域+DNA结构正常",3911,"20q13.2-q13.3","NM_005560"]
["32629A(745)v17687",76,76,1,"32629A","LAMA5","chr20:60921643","c.1201A>G(exon9)","p.T401A","rs4925229",0.86,0.97,0.97,0.97,0.91,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,27,0,"LAMA5",1,43,"非同义",12210,"1.0000=81/81","位于基因组单拷贝区域+DNA结构正常",3911,"20q13.2-q13.3","NM_005560"]
["32629A(745)v17716",25,25,1,"32629A","LAMC1","chr1:182993025","c.174C>T(exon1)","p.A58A","rs10911194",0.52,0.59,0.62,0.55,0.54,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"LAMC1",1,120,"同义",13203,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",3915,"1q31","NM_002293"]
["32629A(745)v17784",2,2,1,"32629A","LARS2","chr3:45589411","c.*389A>G(exon22)","非编码区","rs267266",0.86,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"佩罗（Perrault）综合征4型","AR",615300,5,1,7,1,"LARS2",1,140,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",23395,"3p21.3","NM_015340"]
["32629A(745)v17799",63,33,0.5238,"32629A","LAT","chr16:28997997","c.447G>A(exon6)","p.A149A","rs1131543",0.24,0.32,0.33,0.31,0.32,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LAT",1,50,"同义",13203,"0.5135=38/74","位于基因组单拷贝区域+DNA结构正常",27040,"16p11.2","NM_014387"]
["32629A(745)v17836",112,55,0.4911,"32629A","LCMT1","chr16:25182032","c.793-3T>C(exon9)","非编码区","rs9630611",0.14,0.0096,0.0048,0.015,0.016,0.01,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LCMT1",1,130,"非编码区",16202,"0.5000=60/120","位于基因组单拷贝区域+DNA结构正常",51451,"16p12.1","NM_016309"]
["32629A(745)v17867",22,15,0.6818,"32629A","LDHAL6B","chr15:59499120","c.-20C>T(exon1)","非编码区","rs76593785",0.095,0.043,0.033,0.053,0.032,0.045,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"LDHAL6B",1,130,"非编码区",14200,"0.6667=16/24","位于基因组多拷贝区域+DNA结构正常",92483,"15q22.2","NM_033195"]
["32629A(745)v17928",150,150,1,"32629A","LEPREL2","chr12:6942823","c.1264+15A>G(exon7)","非编码区","rs4963512",0.82,0.98,0.99,0.97,0.97,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LEPREL2",1,55,"非编码区",16203,"1.0000=169/169","位于基因组单拷贝区域+DNA结构正常",10536,"12q13","NM_014262"]
["32629A(745)v17985",204,204,1,"32629A","LHCGR","chr2:48915871","c.1065T>C(exon11)","p.D355D","rs11125179",0.59,0.93,0.92,0.94,0.92,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"男性限制的性早熟","AD",176410,5,1,3,2,"LHCGR",1,140,"同义",13203,"1.0000=225/225","位于基因组单拷贝区域+DNA结构正常",3973,"2p21","NM_000233"]
["32629A(745)v17992",10,6,0.6,"32629A","LHX3","chr9:139096898","c.-40A>C(exon1)","非编码区","rs10858245",0.19,0.26,0.23,0.28,0.24,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合垂体激素缺陷3型","AR",221750,5,3,1,1,"LHX3",1,29,"非编码区",14200,"0.7143=10/14","位于基因组单拷贝区域+DNA结构正常",8022,"9q34.3","NM_178138"]
["32629A(745)v18055",201,144,0.7164,"32629A","LILRB3","chr19:54726839","c.10G>A(exon1)","p.A4T","rs141453251",0.27,0.41,0.4,0.42,0.45,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"LILRB3",1,130,"非同义",12220,"0.7393=173/234","位于基因组多拷贝区域+DNA结构正常",11025,"19q13.4","NM_001081450"]
["32629A(745)v18070",91,91,1,"32629A","LIMD1","chr3:45677635-45677636","c.1409-7(exon2)_c.1409-6(exon2)insT","非编码区","rs5848761",null,0.5,0.5,0.5,null,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,6,0,"LIMD1",1,67,"非编码区",2500,"1.0000=99/99","位于基因组单拷贝区域+DNA结构正常",8994,"3p21.3","NM_014240"]
["32629A(745)v18121",186,186,1,"32629A","LIPI","chr21:15481365","c.1395C>A(exon10)","p.D465E","rs7278737",0.52,0.47,0.47,0.48,0.5,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",12719377,"家族性高甘油三酯血症","AD",145750,5,1,6,1,"LIPI",1,190,"非同义",12220,"1.0000=205/205","位于基因组单拷贝区域+DNA结构正常",149998,"21q11.2","NM_198996","ASP465GLU|\"Plasma_HDL_cholesterol\"|12719377"]
["32629A(745)v18177",8,3,0.375,"32629A","LMTK2","chr7:97736577","c.88C>G(exon1)","p.P30A","rs3735252",0.11,0.079,0.081,0.078,0.062,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"LMTK2",1,98,"非同义",12210,"0.4000=4/10","位于基因组单拷贝区域+DNA结构正常",22853,"7q21.3","NM_014916"]
["32629A(745)v18192",45,22,0.4889,"32629A","LOC100129083","chr19:51919782","c.114C>A(exon2)","p.C38X,78","rs562346187",0.011,0.014,0.014,0.015,0.006,8.6E-3,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,3,0,"LOC100129083",0,0,"截断",15100,"0.4894=23/47","位于基因组多拷贝区域+DNA结构正常",100129083,"19q13.41","NM_001256795"]
["32629A(745)v18253",154,54,0.3506,"32629A","LOC100996331","chr15:22074697","c.705C>G(exon4)","p.G235G","rs4102552",{"$nulls":4},0.078,0.21,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"LOC100996331",0.99,950,"同义",13303,"0.3533=65/184","位于基因组多拷贝区域+DNA结构正常",100996331,"-","XM_003846376"]
["32629A(745)v18265",4,3,0.75,"32629A","LOC100996350","chr3:75718878","c.1064A>C(exon2)","p.D355A","rs73124989",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,55,0,"LOC100996350",null,null,"非同义",12330,"0.8000=4/5","位于基因组多拷贝区域+DNA结构正常",100996350,"-","XM_003846328"]
["32629A(745)v18324",40,40,1,"32629A","LOC100996575","chr1:144615080","c.244-16A>G(exon4)","非编码区","rs3896864",0.59,0.89,0.9,0.89,0.93,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,17,0,"LOC100996575",1,180,"非编码区",16203,"1.0000=40/40","位于基因组多拷贝区域+DNA结构正常",100996575,"-","XM_003846383"]
["32629A(745)v18385",3,3,1,"32629A","LOC101060138","chr7:6692605","c.1012T>C(exon3)","p.S338P","rs1474419",0.84,0.96,0.96,0.95,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LOC101060138",null,null,"非同义",12230,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",null,null,"XM_003959916"]
["32629A(745)v18400",133,74,0.5564,"32629A","LOC392288","chr9:19461193","c.865C>A(exon6)","p.Q289K","rs12349140",0.32,0.32,0.31,0.33,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"LOC392288",null,null,"非同义",12220,"0.5486=79/144","位于基因组多拷贝区域+DNA结构正常",392288,"9p22.1","XM_373277"]
["32629A(745)v18462",169,169,1,"32629A","LOC650293","chr4:8951816","c.340A>G(exon1)","p.M114V","rs3952877",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",{"$nulls":4},3,null,1,0,"LOC650293",null,null,"非同义",12320,"1.0000=195/195","位于基因组多拷贝区域+DNA结构正常",650293,"4p16.1","NM_001040071"]
["32629A(745)v18475",88,44,0.5,"32629A","LOC732265","chr15:74392546-74392546","c.4(exon1)delT","p.Y2Mfs*6","rs3214584",{"$nulls":4},0.004,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",{"$nulls":4},1,null,2,0,"LOC732265",null,null,"移码",2130,"0.5106=48/94","位于基因组多拷贝区域+DNA结构正常",732265,"-","XM_003118667"]
["32629A(745)v18532",62,62,1,"32629A","LPHN3","chr4:62845388","c.2709G>C(exon15)","p.R903R","rs1397547",0.82,0.86,0.86,0.85,0.81,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"LPHN3",1,160,"同义",13203,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",23284,"4q13.1","NM_015236"]
["32629A(745)v18589",120,54,0.45,"32629A","LRIT3","chr4:110791361","c.1456G>A(exon4)","p.A486T","rs2347131",0.25,0.31,0.32,0.29,0.3,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"1F型先天性静止性夜盲","AR",615058,5,3,5,1,"LRIT3",0.97,91,"非同义",12220,"0.4552=61/134","位于基因组单拷贝区域+DNA结构正常",345193,"4q25","NM_198506"]
["32629A(745)v18605",100,100,1,"32629A","LRP1B","chr2:141533662","c.5500+5A>G(exon33)","非编码区","rs996361",0.86,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"LRP1B",1,170,"非编码区",16202,"1.0000=111/111","位于基因组单拷贝区域+DNA结构正常",53353,"2q21.2","NM_018557"]
["32629A(745)v18649",69,69,1,"32629A","LRP5","chr11:68171013","c.1647T>C(exon8)","p.F549F","rs545382",0.84,0.98,0.99,0.98,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17137849;18588671;19506792","常染色体显性骨硬化病1型","AD",607634,5,1,5,7,"LRP5",1,64,"同义",13203,"1.0000=73/73","位于基因组多拷贝区域+DNA结构正常",4041,"11q13.4","NM_002335"]
["32629A(745)v18651",33,21,0.6364,"32629A","LRP5","chr11:68192690","c.3357G>A(exon15)","p.V1119V","rs556442",0.58,0.75,0.74,0.76,0.73,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17137849;18058054;18588671;23490293;24736728","vanBuchem病（泛发性骨皮质增厚症）","AD",607636,5,1,5,7,"LRP5",1,64,"同义",13203,"0.6286=22/35","位于基因组单拷贝区域+DNA结构正常",4041,"11q13.4","NM_002335"]
["32629A(745)v18713",70,70,1,"32629A","LRRC40","chr1:70611347","c.*136T>C(exon15)","非编码区","rs595662",0.98,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LRRC40",1,220,"非编码区",14200,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",55631,"1p31.1","NM_017768"]
["32629A(745)v18762",283,283,1,"32629A","LRRFIP2","chr3:37163039","c.286-12C>T(exon7)","非编码区","rs336595",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LRRFIP2",1,160,"非编码区",16202,"1.0000=312/312","位于基因组单拷贝区域+DNA结构正常",9209,"3p22.2","NM_006309"]
["32629A(745)v18777",163,85,0.5215,"32629A","LRRK2","chr12:40713834","c.4872C>A(exon34)","p.G1624G","rs1427263",0.68,0.48,0.48,0.48,0.46,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20301387;15726496;16960813;18952485;19343804","帕金森病8型","AD",607060,5,1,10,1,"LRRK2",1,190,"同义",13203,"0.5135=95/185","位于基因组单拷贝区域+DNA结构正常",120892,"12q12","NM_198578",null,"rs1427263|Uncertain significance|OMIM:607060|NA|no assertion criteria provided|PubMed:20301387"]
["32629A(745)v18836",13,10,0.7692,"32629A","LTBR","chr12:6493524","c.-1C>T(exon1)","非编码区","rs201263587",0.0008,0.0096,0.014,0.0049,0.0037,0.0069,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"LTBR",0,0,"非编码区",14100,"0.8000=12/15","位于基因组单拷贝区域+DNA结构正常",4055,"12p13","NM_002342"]
["32629A(745)v18846",133,133,1,"32629A","LTN1","chr21:30318466","c.3761+8A>C(exon20)","非编码区","rs2243552",0.41,0.74,0.77,0.71,0.7,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"LTN1",1,170,"非编码区",16203,"1.0000=156/156","位于基因组单拷贝区域+DNA结构正常",26046,"21q22.11","NM_015565"]
["32629A(745)v18895",31,31,1,"32629A","LYNX1","chr8:143845950","c.*73T>C(exon5)","非编码区","rs2585187",0.9,0.92,0.91,0.94,0.93,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LYNX1",1,60,"非编码区",14200,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",66004,"8q24.3","NM_023946"]
["32629A(745)v18956",30,30,1,"32629A","MAD2L2","chr1:11735245","c.502-14T>G(exon8)","非编码区","rs878778",0.15,0.5,0.46,0.53,0.5,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MAD2L2",1,56,"非编码区",16202,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",10459,"1p36","NM_001127325"]
["32629A(745)v18984",216,216,1,"32629A","MAGEA12","chrX:151899913","c.888A>G(exon3)","p.G296G","rs2233055",null,0.71,0.74,0.68,0.7,0.67,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"MAGEA12",1,260,"同义",13303,"1.0000=243/243","位于基因组多拷贝区域+DNA结构正常",4111,"Xq28","NM_001166386"]
["32629A(745)v19027",73,37,0.5068,"32629A","MAGEC3","chrX:140967195","c.493T>A(exon3)","p.L165M","rs11095910",null,0.42,0.42,0.41,0.45,0.53,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,7,0,"MAGEC3",1,140,"非同义",12320,"0.5128=40/78","位于基因组单拷贝区域+DNA结构正常",139081,"Xq27.2","NM_138702"]
["32629A(745)v19088",22,12,0.5455,"32629A","MAN2B2","chr4:6596360","c.958G>A(exon7)","p.V320M","rs2301795",0.46,0.4,0.4,0.4,0.38,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"MAN2B2",1,64,"非同义",12220,"0.5833=14/24","位于基因组单拷贝区域+DNA结构正常",23324,"4p16.1","NM_015274"]
["32629A(745)v19103",9,9,1,"32629A","MANF","chr3:51422766","c.-8G>T(exon1)","非编码区","rs13091931",{"$nulls":4},0.81,0.89,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"MANF",1,92,"非编码区",14300,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",7873,"3p21.1","NM_006010"]
["32629A(745)v19144",89,44,0.4944,"32629A","MAP2K3","chr17:21205460","c.405C>T(exon6)","p.D135D","rs62057721",{"$nulls":4},0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,56,0,"MAP2K3",1,140,"同义",13303,"0.4835=44/91","位于基因组单拷贝区域+DNA结构正常",5606,"17q11.2","NM_145109"]
["32629A(745)v19178",7,6,0.8571,"32629A","MAP2K3","chr17:21217866","c.*324T>C(exon12)","非编码区","rs2363189",{"$nulls":4},0.5,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,56,0,"MAP2K3",1,140,"非编码区",14300,"0.8571=6/7","位于基因组单拷贝区域+DNA结构正常",5606,"17q11.2","NM_145109"]
["32629A(745)v19235",72,72,1,"32629A","MAP9","chr4:156274377","c.1496A>G(exon11)","p.K499R","rs386459185",0.41,0.59,0.63,0.54,0.64,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"MAP9",1,150,"非同义",12220,"1.0000=81/81","位于基因组单拷贝区域+DNA结构正常",79884,"4q32.1","NM_001039580"]
["32629A(745)v19269",39,39,1,"32629A","MAPK8IP3","chr16:1814391","c.2208T>C(exon19)","p.D736D","rs2294618",0.15,0.28,0.28,0.27,0.29,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MAPK8IP3",1,52,"同义",13203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",23162,"16p13.3","NM_015133"]
["32629A(745)v19302",62,62,1,"32629A","MARK3","chr14:103934488","c.1229T>C(exon12)","p.F410S","rs10137161",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MARK3",1,150,"非同义",12220,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",4140,"14q32.3","NM_001128918"]
["32629A(745)v19359",129,77,0.5969,"32629A","MATN2","chr8:99039774","c.2073C>T(exon14)","p.A691A","rs2290466",0.12,0.23,0.24,0.21,0.26,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"MATN2",1,110,"同义",13203,"0.5944=85/143","位于基因组单拷贝区域+DNA结构正常",4147,"8q22","NM_002380"]
["32629A(745)v19372",74,36,0.4865,"32629A","MAX","chr14:65550816","c.*82A>T(exon3)","非编码区","rs7159443",0.52,0.36,0.35,0.38,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"噬铬细胞瘤","AD",171300,5,1,2,1,"MAX",1,240,"非编码区",14200,"0.5000=40/80","位于基因组单拷贝区域+DNA结构正常",4149,"14q23","NM_001271068"]
["32629A(745)v19413",27,27,1,"32629A","MB","chr22:36006923-36006924","c.318+7(exon3)_c.318+8(exon3)insG","非编码区","rs35171458",1,1,1,1,0.99,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,3,0,"MB",1,65,"非编码区",2500,"1.0000=29/29","位于基因组单拷贝区域+DNA结构正常",4151,"22q13.1","NM_203377"]
["32629A(745)v19476",56,27,0.4821,"32629A","MCM6","chr2:136598316","c.*89G>A(exon17)","非编码区","rs3087350",0.031,0.07,0.067,0.073,0.051,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"成年型乳糖不耐症","AR",223100,3,3,2,1,"MCM6",1,120,"非编码区",14100,"0.4921=31/63","位于基因组单拷贝区域+DNA结构正常",4175,"2q21","NM_005915"]
["32629A(745)v19491",36,16,0.4444,"32629A","MCPH1","chr8:6264130","c.-59G>C(exon1)","非编码区","rs2305023",0.54,0.48,0.47,0.48,0.49,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24995331,"常染色体隐性原发性小头畸形1型","AR",251200,5,3,12,1,"MCPH1",1,150,"非编码区",14200,"0.4359=17/39","位于基因组单拷贝区域+DNA结构正常",79648,"8p23.1","NM_001172574"]
["32629A(745)v19531",41,17,0.4146,"32629A","MDK","chr11:46403649","c.42G>A(exon2)","p.L14L","rs20542",0.11,0.079,0.052,0.11,0.081,0.081,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MDK",1,42,"同义",13203,"0.4167=20/48","位于基因组单拷贝区域+DNA结构正常",4192,"11p11.2","NM_001270550"]
["32629A(745)v19563",68,22,0.3235,"32629A","MECR","chr1:29529699","c.369A>G(exon5)","p.A123A","rs1062924",0.75,0.56,0.55,0.58,0.61,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MECR",1,81,"同义",13203,"0.3243=24/74","位于基因组单拷贝区域+DNA结构正常",51102,"1p35.3","NM_001024732"]
["32629A(745)v19617",44,20,0.4545,"32629A","MEFV","chr16:3297073","c.1530T>C(exon5)","p.D510D","rs224206",0.66,0.67,0.71,0.63,0.65,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19784369;9288758;10364520","常染色体显性家族性地中海热","AD",134610,5,1,7,2,"MEFV",1,55,"同义",13203,"0.4510=23/51","位于基因组单拷贝区域+DNA结构正常",4210,"16p13.3","NM_000243",null,"rs224206|Benign|OMIM:249100|NA|criteria provided, single submitter|NA"]
["32629A(745)v19670",69,40,0.5797,"32629A","METTL13","chr1:171755170","c.1065G>A(exon3)","p.S355S","rs2232818",0.32,0.53,0.52,0.54,0.49,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"METTL13",1,92,"同义",13203,"0.5584=43/77","位于基因组单拷贝区域+DNA结构正常",51603,"1q24-q25.3","NM_015935"]
["32629A(745)v19717",22,22,1,"32629A","MEX3C","chr18:48723217","c.474G>A(exon1)","p.P158P","rs35675106",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MEX3C",0.93,68,"同义",13203,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",51320,"18q21.2","NM_016626"]
["32629A(745)v19744",15,10,0.6667,"32629A","MFI2","chr3:196742395","c.1082-8C>T(exon9)","非编码区","rs41284049",0.23,0.23,0.22,0.23,0.26,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"MFI2",0.99,58,"非编码区",16202,"0.6667=10/15","位于基因组单拷贝区域+DNA结构正常",4241,"3q28-q29","NM_005929"]
["32629A(745)v19757",14,14,1,"32629A","MFRP","chr11:119217311","c.-88C>T(exon1)","非编码区","rs883245",0.58,0.76,0.78,0.75,0.72,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18334955;18781223","真性小眼球2型",null,609549,5,1,6,2,"MFRP",1,62,"非编码区",14200,"1.0000=17/17","位于基因组单拷贝区域+DNA结构正常",83552,"11q23","NM_031433"]
["32629A(745)v19798",7,4,0.5714,"32629A","MGLL","chr3:127410915","c.*126G>A(exon8)","非编码区","rs814131",0.52,0.68,0.65,0.71,0.63,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MGLL",1,95,"非编码区",14200,"0.5714=4/7","位于基因组单拷贝区域+DNA结构正常",11343,"3q21.3","NM_007283"]
["32629A(745)v19869",91,42,0.4615,"32629A","MICA","chr6:31378956","c.433C>G(exon3)","p.L145V",null,null,0.094,0.048,0.14,0.12,0.11,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,29,0,"MICA",1,84,"非同义",12420,"0.4286=42/98","位于基因组多拷贝区域+DNA结构正常",100507436,"6p21.33","NM_001177519"]
["32629A(745)v19888",102,52,0.5098,"32629A","MICA","chr6:31382938","c.*179A>G(exon6)","非编码区","rs9266827",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",{"$nulls":4},5,null,29,0,"MICA",1,84,"非编码区",14200,"0.5046=55/109","位于基因组多拷贝区域+DNA结构正常",100507436,"6p21.33","NM_001177519"]
["32629A(745)v19944",66,31,0.4697,"32629A","MKKS","chr20:10386013","c.1595G>T(exon6)","p.G532V","rs1545",0.19,0.25,0.26,0.23,0.19,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;18813213;19247371;24400638","Bardet-biedl综合征6型","AR",605231,5,3,5,2,"MKKS",1,110,"非同义",12220,"0.4795=35/73","位于基因组单拷贝区域+DNA结构正常",8195,"20p12","NM_018848","GLY532VAL|\"Obesity_association_with\"|18813213","GLY532VAL|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v19980",96,96,1,"32629A","MLKL","chr16:74706298","c.*104T>A(exon11)","非编码区","rs4888274",0.65,0.79,0.79,0.79,0.75,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MLKL",1,90,"非编码区",14200,"1.0000=103/103","位于基因组单拷贝区域+DNA结构正常",197259,"16q23.1","NM_152649"]
["32629A(745)v20005",459,98,0.2135,"32629A","MLL3","chr7:151962176","c.1131A>T(exon8)","p.P377P","rs62478356",{"$nulls":4},0.23,0.44,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,22,0,"MLL3",1,140,"同义",13303,"0.2224=123/553","位于基因组多拷贝区域+DNA结构正常",58508,"7q36.1","NM_170606"]
["32629A(745)v20062",114,49,0.4298,"32629A","MMP14","chr14:23312923","c.855T>C(exon6)","p.G285G","rs2236307",0.27,0.35,0.36,0.33,0.39,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18784838;22527983;24472034","Winchester综合征","AR",277950,5,3,3,1,"MMP14",1,77,"同义",13203,"0.4355=54/124","位于基因组单拷贝区域+DNA结构正常",4323,"14q11-q12","NM_004995"]
["32629A(745)v20077",180,180,1,"32629A","MMP1","chr11:102666316","c.648A>G(exon5)","p.A216A","rs470558",0.93,0.89,0.88,0.9,0.88,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19318431;19435861","慢性阻塞性肺疾病",null,606963,5,1,5,2,"MMP1",1,180,"同义",13203,"1.0000=199/199","位于基因组单拷贝区域+DNA结构正常",4312,"11q22.3","NM_002421"]
["32629A(745)v20135",115,115,1,"32629A","MNS1","chr15:56721406","c.1396-15G>A(exon10)","非编码区","rs808730",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MNS1",1,120,"非编码区",16202,"1.0000=129/129","位于基因组单拷贝区域+DNA结构正常",55329,"15q21.3","NM_018365"]
["32629A(745)v20189",55,30,0.5455,"32629A","MORN1","chr1:2267900","c.1250+8G>A(exon12)","非编码区","rs201528534",1E-3,0.0072,0.0095,0.0049,0.0088,5.3E-3,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"MORN1",1,73,"非编码区",16103,"0.5645=35/62","位于基因组单拷贝区域+DNA结构正常",79906,"1p36.33-p36.32","NM_024848"]
["32629A(745)v20208",51,28,0.549,"32629A","MOV10L1","chr22:50589196","c.2760C>A(exon21)","p.G920G","rs2294396",0.14,0.21,0.19,0.22,0.25,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"MOV10L1",1,130,"同义",13203,"0.5614=32/57","位于基因组单拷贝区域+DNA结构正常",54456,"22q13.33","NM_018995"]
["32629A(745)v20263",88,88,1,"32629A","MPP4","chr2:202557702","c.130G>A(exon3)","p.G44S","rs6725443",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MPP4",1,150,"非同义",12230,"1.0000=95/95","位于基因组单拷贝区域+DNA结构正常",58538,"2q33.2","NM_033066"]
["32629A(745)v20282",153,153,1,"32629A","MPZL3","chr11:118110977","c.189A>G(exon2)","p.K63K","rs2853006",0.79,0.7,0.7,0.71,0.68,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MPZL3",1,130,"同义",13203,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",196264,"11q23.3","NM_198275"]
["32629A(745)v20339",46,24,0.5217,"32629A","MRPL28","chr16:420140","c.79C>T(exon2)","p.H27Y","rs3194151",0.11,0.15,0.13,0.17,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MRPL28",1,59,"非同义",12210,"0.5472=29/53","位于基因组单拷贝区域+DNA结构正常",10573,"16p13.3","NM_006428"]
["32629A(745)v20396",47,47,1,"32629A","MRPS7","chr17:73257986","c.5C>T(exon1)","p.A2V","rs8075276",0.66,0.88,0.87,0.89,0.9,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MRPS7",1,100,"非同义",12220,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",51081,"17q25","NM_015971"]
["32629A(745)v20419",273,129,0.4725,"32629A","MS4A13","chr11:60291413","c.173C>T(exon4)","p.P58L","rs6591595",0.73,0.7,0.75,0.65,0.71,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MS4A13",1,270,"非同义",12210,"0.4839=150/310","位于基因组单拷贝区域+DNA结构正常",503497,"11q12.2","NM_001012417"]
["32629A(745)v20464",58,58,1,"32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;16847180;20386703","子宫内膜癌",null,608089,5,1,1,3,"MSH6",1,120,"非编码区",16203,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",2956,"2p16","NM_000179",null,"rs2020911|Benign|NA|NA|reviewed by expert panel|PubMed:24033266"]
["32629A(745)v20476",107,43,0.4019,"32629A","MST1R","chr3:49936102","c.1568A>G(exon4)","p.Q523R","rs2230590",0.42,0.12,0.1,0.14,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MST1R",1,72,"非同义",12220,"0.3821=47/123","位于基因组单拷贝区域+DNA结构正常",4486,"3p21.3","NM_002447"]
["32629A(745)v20525",5,3,0.6,"32629A","MTHFSD","chr16:86565537","c.*80G>C(exon8)","非编码区","rs56017283",0.19,0.16,0.18,0.14,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"MTHFSD",1,100,"非编码区",14200,"0.6000=3/5","位于基因组单拷贝区域+DNA结构正常",64779,"16q24.1","NM_022764"]
["32629A(745)v20580",7,7,1,"32629A","MTRNR2L1","chr17:22023516-22023517","c.*54(exon1)_c.*55(exon1)insCTAA","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,63,0,"MTRNR2L1",null,null,"非编码区",2440,"1.0000=7/7","位于基因组多拷贝区域+DNA结构正常",100462977,"17p11.2","NM_001190452"]
["32629A(745)v20599",4,3,0.75,"32629A","MTRNR2L1","chr17:22023645-22023646","c.*183(exon1)_c.*184(exon1)insCT","非编码区","rs376786741",{"$nulls":6},"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,63,0,"MTRNR2L1",null,null,"非编码区",2430,"0.7500=3/4","位于基因组多拷贝区域+DNA结构正常",100462977,"17p11.2","NM_001190452"]
["32629A(745)v20656",45,45,1,"32629A","MTRNR2L8","chr11:10529549","c.*150C>T(exon1)","非编码区","rs76238052",{"$nulls":4},1,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,53,0,"MTRNR2L8",null,null,"非编码区",14300,"1.0000=49/49","位于基因组多拷贝区域+DNA结构正常",100463486,"11p15.3","NM_001190702"]
["32629A(745)v20685",8,5,0.625,"32629A","MTRNR2L8","chr11:10529983","c.-210T>C(exon1)","非编码区","rs7350470",{"$nulls":4},0.68,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,53,0,"MTRNR2L8",null,null,"非编码区",14300,"0.5556=5/9","位于基因组多拷贝区域+DNA结构正常",100463486,"11p15.3","NM_001190702"]
["32629A(745)v20719",66,39,0.5909,"32629A","MTUS1","chr8:17503431","c.*4C>G(exon15)","非编码区","rs1043883",0.44,0.46,0.48,0.45,0.51,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"MTUS1",1,130,"非编码区",14200,"0.6184=47/76","位于基因组单拷贝区域+DNA结构正常",57509,"8p22","NM_001001924"]
["32629A(745)v20776",59,12,0.2034,"32629A","MUC12","chr7:100639540","c.5696C>T(exon2)","p.T1899M","rs199570440",{"$nulls":4},0.036,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,64,0,"MUC12",1,410,"非同义",12320,"0.2154=14/65","位于基因组多拷贝区域+DNA结构正常",10071,"7q22","NM_001164462"]
["32629A(745)v20798",161,75,0.4658,"32629A","MUC15","chr11:26586801","c.686C>T(exon3)","p.T229I","rs15783",0.56,0.45,0.44,0.46,0.48,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22657408,{"$nulls":3},5,null,2,0,"MUC15",1,170,"非同义",12210,"0.4835=88/182","位于基因组单拷贝区域+DNA结构正常",143662,"11p14.3","NM_001135091"]
["32629A(745)v20851",112,66,0.5893,"32629A","MUC16","chr19:9069792","c.17654C>T(exon3)","p.S5885F","rs1862458",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",{"$nulls":4},5,null,78,0,"MUC16",1,160,"非同义",12220,"0.5714=68/119","位于基因组多拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690"]
["32629A(745)v20866",85,54,0.6353,"32629A","MUC16","chr19:9083457","c.8358G>A(exon1)","p.M2786I","rs17000886",0.19,0.3,0.3,0.3,0.32,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,78,0,"MUC16",1,160,"非同义",12220,"0.6374=58/91","位于基因组单拷贝区域+DNA结构正常",94025,"19p13.2","NM_024690"]
["32629A(745)v20927",57,54,0.9474,"32629A","MUC2","chr11:1093057","c.4873A>G(exon31)","p.T1625A","rs11245947",{"$nulls":4},0.5,0.61,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,24,0,"MUC2",1,110,"非同义",12330,"0.9492=56/59","位于基因组多拷贝区域+DNA结构正常",4583,"11p15.5","NM_002457"]
["32629A(745)v20958",3,2,0.6667,"32629A","MUC3A","chr7:100550291","c.860C>A(exon1)","p.T287N","rs71540917",{"$nulls":5},0.28,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,20,0,"MUC3A",null,null,"非同义",12330,"0.6667=2/3","位于基因组单拷贝区域+DNA结构正常",4584,"7q22","XM_001725354"]
["32629A(745)v20998",173,82,0.474,"32629A","MUC4","chr3:195510732","c.7719C>T(exon2)","p.H2573H","rs80145081",0.0074,0,0,0,0.49,0.49,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,73,0,"MUC4",1,310,"同义",13103,"0.5053=96/190","位于基因组多拷贝区域+DNA结构正常",4585,"3q29","NM_018406"]
["32629A(745)v21059",26,26,1,"32629A","MUC5B","chr11:1264742","c.6632G>C(exon31)","p.R2211P","rs137973688",{"$nulls":4},0.6,0.61,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,3,1,48,1,"MUC5B",1,140,"非同义",12320,"1.0000=28/28","位于基因组多拷贝区域+DNA结构正常",727897,"11p15.5","NM_002458"]
["32629A(745)v21074",213,211,0.9906,"32629A","MUC5B","chr11:1269672","c.11562T>C(exon31)","p.S3854S","rs4963057",0.52,0.67,0.69,0.65,0.65,0.65,"纯合","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",614743,5,1,48,1,"MUC5B",1,140,"同义",13203,"0.9920=249/251","位于基因组多拷贝区域+DNA结构正常",727897,"11p15.5","NM_002458"]
["32629A(745)v21155",268,109,0.4067,"32629A","MUC6","chr11:1018246","c.4555A>G(exon31)","p.N1519D","rs773867956",{"$nulls":4},0.49,0.35,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,88,0,"MUC6",1,340,"非同义",12320,"0.4492=137/305","位于基因组多拷贝区域+DNA结构正常",4588,"11p15.5","NM_005961"]
["32629A(745)v21191",6,6,1,"32629A","MXI1","chr10:111985806-111985807","c.-163(exon1)_c.-162(exon1)insGGGGCGGCA","非编码区","rs553212125",0.15,0.3,0.32,0.28,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"前列腺癌","AD",176807,5,1,2,1,"MXI1",1,110,"非编码区",2420,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",4601,"10q24-q25","NM_005962"]
["32629A(745)v21206",143,69,0.4825,"32629A","MXRA5","chrX:3241284","c.2442T>C(exon5)","p.S814S","rs1635248",null,0.37,0.38,0.36,0.43,0.39,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,16,0,"MXRA5",1,97,"同义",13303,"0.5210=87/167","位于基因组多拷贝区域+DNA结构正常",25878,"Xp22.33","NM_015419"]
["32629A(745)v21235",134,44,0.3284,"32629A","MYCBP2","chr13:77792099","c.2940-7A>G(exon21)","非编码区","rs79698158",0.031,0.14,0.14,0.15,0.12,null,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"MYCBP2",1,150,"非编码区",16102,"0.3269=51/156","位于基因组单拷贝区域+DNA结构正常",23077,"13q22","NM_015057"]
["32629A(745)v21303",35,35,1,"32629A","MYH6","chr14:23872666","c.800-11A>G(exon10)","非编码区","rs434273",0.78,0.65,0.72,0.59,0.67,0.68,"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14型",null,613251,5,1,1,4,"MYH6",1,96,"非编码区",16202,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",4624,"14q12","NM_002471",null,"rs434273|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32629A(745)v21313",49,33,0.6735,"32629A","MYH7","chr14:23902753","c.189C>T(exon2)","p.T63T","rs2069540",0.52,0.42,0.33,0.5,0.39,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;20592870;24938736","家族性肥厚型心肌病（线粒体病型）","AD",192600,5,1,1,5,"MYH7",1,95,"同义",13203,"0.6897=40/58","位于基因组单拷贝区域+DNA结构正常",4625,"14q12","NM_000257",null,"rs2069540|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v21336",20,20,1,"32629A","MYLK","chr3:123440967","c.1804+8C>T(exon13)","非编码区","rs820355",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,"家族性胸主动脉瘤7型","AD",613780,5,1,7,1,"MYLK",1,74,"非编码区",16203,"1.0000=29/29","位于基因组多拷贝区域+DNA结构正常",4638,"3q21","NM_053025"]
["32629A(745)v21381",48,48,1,"32629A","MYO19","chr17:34869155","c.*57C>T(exon11)","非编码区","rs8882",0.45,0.43,0.44,0.42,0.49,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MYO19",1,83,"非编码区",14200,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",80179,"17q12","NM_001033580"]
["32629A(745)v21411",65,31,0.4769,"32629A","MYO3B","chr2:171070912","c.345T>C(exon4)","p.T115T","rs13385825",0.42,0.45,0.46,0.45,0.49,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"MYO3B",1,150,"同义",13203,"0.4928=34/69","位于基因组单拷贝区域+DNA结构正常",140469,"2q31.1-q31.2","NM_138995"]
["32629A(745)v21446",106,106,1,"32629A","MYO7B","chr2:128321770","c.61G>A(exon3)","p.G21S","rs2404991",0.4,0.53,0.58,0.49,0.55,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"MYO7B",1,66,"非同义",12220,"1.0000=118/118","位于基因组单拷贝区域+DNA结构正常",4648,"2q21.1","NM_001080527"]
["32629A(745)v21488",71,33,0.4648,"32629A","MYOM2","chr8:2037833","c.1647G>C(exon15)","p.S549S","rs2294061",0.22,0.22,0.19,0.25,0.18,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"MYOM2",1,130,"同义",13202,"0.4487=35/78","位于基因组单拷贝区域+DNA结构正常",9172,"8p23.3","NM_003970"]
["32629A(745)v21515",68,68,1,"32629A","MYOZ3","chr5:150051958","c.481T>C(exon6)","p.S161P","rs194134",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MYOZ3",1,64,"非同义",12220,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",91977,"5q33.1","NM_001122853"]
["32629A(745)v21530",132,62,0.4697,"32629A","MYRIP","chr3:40251392","c.1713T>C(exon11)","p.D571D","rs1799418",0.37,0.3,0.25,0.34,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"MYRIP",1,110,"同义",13203,"0.4737=72/152","位于基因组单拷贝区域+DNA结构正常",25924,"3p22.1","NM_015460"]
["32629A(745)v21585",22,22,1,"32629A","NACAD","chr7:45122464","c.3315T>G(exon2)","p.D1105E","rs10243185",0.49,0.28,0.29,0.27,0.29,0.32,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"NACAD",1,32,"非同义",12220,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",23148,"7p13","NM_001146334"]
["32629A(745)v21629",152,80,0.5263,"32629A","NALCN","chr13:101735211","c.3714C>T(exon33)","p.T1238T","rs17677552",0.33,0.5,0.5,0.51,0.44,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"小儿肌张力低下伴精神运动性迟缓和特征性面容 ","AR",615419,5,3,2,1,"NALCN",1,180,"同义",13203,"0.5280=85/161","位于基因组单拷贝区域+DNA结构正常",259232,"13q32.3","NM_052867"]
["32629A(745)v21653",14,14,1,"32629A","NARG2","chr15:60715643","c.*190G>A(exon16)","非编码区","rs3068",0.63,0.92,0.92,0.92,0.94,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NARG2",1,160,"非编码区",14200,"1.0000=15/15","位于基因组多拷贝区域+DNA结构正常",79664,"15q22.2","NM_024611"]
["32629A(745)v21714",39,39,1,"32629A","NBEAL2","chr3:47045739","c.6054C>G(exon37)","p.P2018P","rs1079276",0.47,0.53,0.55,0.51,0.55,0.54,"纯合","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",139090,5,1,6,1,"NBEAL2",1,47,"同义",13203,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",23218,"3p21.31","NM_015175"]
["32629A(745)v21758",146,90,0.6164,"32629A","NBPF1","chr1:16909129","c.1216A>G(exon14)","p.K406E","rs199798572",{"$nulls":4},0.49,0.5,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,30,0,"NBPF1",1,880,"非同义",12330,"0.6098=100/164","位于基因组多拷贝区域+DNA结构正常",55672,"1p36.13","NM_017940"]
["32629A(745)v21785",50,17,0.34,"32629A","NBPF9","chr1:144811827","c.858G>A(exon1)","p.M286I","rs9730002",{"$nulls":4},0.29,0.061,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,11,0,"NBPF9",1,230,"非同义",12330,"0.3793=22/58","位于基因组多拷贝区域+DNA结构正常",400818,"1q21.1","NM_001037675"]
["32629A(745)v21846",41,19,0.4634,"32629A","NCKAP5","chr2:133542585","c.1799G>C(exon14)","p.S600T","rs17325719",0.082,0.046,0.057,0.034,0.065,0.058,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"NCKAP5",1,93,"非同义",12220,"0.4634=19/41","位于基因组单拷贝区域+DNA结构正常",344148,"2q21.2","NM_207363"]
["32629A(745)v21861",7,7,1,"32629A","NCOA6","chr20:33302801-33302803","c.*323(exon15)_c.*325(exon15)delATG","非编码区","rs3830897",null,0.5,0.49,0.5,0.067,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"NCOA6",1,110,"非编码区",2430,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",23054,"20q11","NM_014071"]
["32629A(745)v21912",292,290,0.9932,"32629A","NDST3","chr4:119035948-119035949","c.1070-13(exon4)_c.1070-12(exon4)insC","非编码区","rs5861378",{"$nulls":4},0.77,0.8,"纯合","未知","内含子突变",{"$nulls":4},4,null,1,0,"NDST3",1,190,"非编码区",2500,"0.9940=333/335","位于基因组单拷贝区域+简单重复结构",9348,"4q26","NM_004784"]
["32629A(745)v21932",306,306,1,"32629A","NDUFAF6","chr8:96053783-96053784","c.421-15(exon4)_c.421-14(exon4)delCT","非编码区","rs79118993",null,0.94,0.92,0.96,0.77,0.94,"纯合","未知","内含子突变",null,"Leigh综合征","AR",256000,4,1,2,1,"NDUFAF6",1,170,"非编码区",2500,"1.0000=347/347","位于基因组单拷贝区域+DNA结构正常",137682,"8q22.1","NM_152416"]
["32629A(745)v21982",85,41,0.4824,"32629A","NEB","chr2:152512992","c.6184-14T>A(exon49)","非编码区","rs10173335",0.1,0.038,0.052,0.024,0.046,0.045,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"2型杆状体肌病","AR",256030,5,3,29,1,"NEB",1,190,"非编码区",16202,"0.4948=48/97","位于基因组单拷贝区域+DNA结构正常",4703,"2q22","NM_001271208"]
["32629A(745)v22041",99,54,0.5455,"32629A","NEK2","chr1:211843609","c.765+14G>T(exon5)","非编码区","rs2289725",0.079,0.2,0.25,0.16,0.21,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"色素性视网膜炎67型","AR",615565,5,3,3,1,"NEK2",0.99,96,"非编码区",16203,"0.5217=60/115","位于基因组单拷贝区域+DNA结构正常",4751,"1q32.2-q41","NM_002497"]
["32629A(745)v22061",158,67,0.4241,"32629A","NELL1","chr11:21596579","c.*11G>A(exon20)","非编码区","rs117482122",0.032,0.065,0.071,0.058,0.066,0.067,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"NELL1",1,170,"非编码区",14100,"0.4302=77/179","位于基因组单拷贝区域+DNA结构正常",4745,"11p15.1","NM_006157"]
["32629A(745)v22109",178,89,0.5,"32629A","NF1","chr17:29553485","c.2034G>A(exon18)","p.P678P","rs2285892",0.5,0.51,0.49,0.53,0.54,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17668375,"家族性脊髓性神经纤维瘤病","AD",162210,5,1,3,5,"NF1",1,160,"同义",13203,"0.4952=103/208","位于基因组多拷贝区域+DNA结构正常",4763,"17q11.2","NM_001042492",null,"rs2285892|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v22113",15,10,0.6667,"32629A","NFAM1","chr22:42780985","c.*182A>G(exon6)","非编码区","rs12484229",0.16,0.24,0.25,0.23,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NFAM1",1,76,"非编码区",14200,"0.6471=11/17","位于基因组单拷贝区域+DNA结构正常",150372,"22q13.2","NM_145912"]
["32629A(745)v22172",58,35,0.6034,"32629A","NGF","chr1:115829313","c.104C>T(exon3)","p.A35V","rs6330",0.25,0.13,0.11,0.14,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18763222;17192954;17212826;18520591;19063739","遗传性感觉自主神经病V型","AR",608654,5,3,1,1,"NGF",1,76,"非同义",12220,"0.6230=38/61","位于基因组单拷贝区域+DNA结构正常",4803,"1p13.1","NM_002506","rs6330|\"Anxiety-related_traits_gender-dependent_association_with\"|18763222"]
["32629A(745)v22228",45,23,0.5111,"32629A","NIPAL3","chr1:24775967","c.395-4G>A(exon6)","非编码区","rs4648989",0.17,0.31,0.35,0.27,0.25,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NIPAL3",1,93,"非编码区",16202,"0.5217=24/46","位于基因组单拷贝区域+DNA结构正常",57185,"1p36.12-p35.1","NM_020448"]
["32629A(745)v22243",10,10,1,"32629A","NISCH","chr3:52526843-52526848","c.*345(exon21)_c.*350(exon21)delTGTTGC","非编码区","rs397989606",{"$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",{"$nulls":4},3,null,7,0,"NISCH",1,56,"非编码区",2430,"1.0000=10/10","位于基因组单拷贝区域+DNA结构正常",11188,"3p21.1","NM_007184"]
["32629A(745)v22297",35,16,0.4571,"32629A","NLRC5","chr16:57116514","c.*74T>A(exon48)","非编码区","rs27194",0.79,0.87,0.87,0.86,0.84,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"NLRC5",1,59,"非编码区",14200,"0.4250=17/40","位于基因组单拷贝区域+DNA结构正常",84166,"16q13","NM_032206"]
["32629A(745)v22323",144,144,1,"32629A","NLRP14","chr11:7071031","c.2253G>A(exon6)","p.E751E","rs1552726",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NLRP14",1,140,"同义",13203,"1.0000=154/154","位于基因组单拷贝区域+DNA结构正常",338323,"11p15.4","NM_176822"]
["32629A(745)v22360",136,54,0.3971,"32629A","NLRP8","chr19:56477710","c.2345T>C(exon5)","p.V782A","rs306496",0.66,0.69,0.68,0.71,0.68,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"NLRP8",1,110,"非同义",12220,"0.4041=59/146","位于基因组单拷贝区域+DNA结构正常",126205,"19q13.43","NM_176811"]
["32629A(745)v22421",59,38,0.6441,"32629A","NOBOX","chr7:144096839","c.1154+11T>C(exon6)","非编码区","rs757388",0.71,0.82,0.83,0.81,0.83,0.83,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17701902,"卵巢早衰5型",null,611548,5,2,3,1,"NOBOX",1,69,"非编码区",16203,"0.6567=44/67","位于基因组单拷贝区域+DNA结构正常",135935,"7q35","NM_001080413"]
["32629A(745)v22440",51,27,0.5294,"32629A","NOD1","chr7:30496382","c.156C>G(exon4)","p.A52A","rs2075818",0.37,0.32,0.34,0.31,0.34,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19327158;21745515;22563200",{"$nulls":3},5,null,5,0,"NOD1",1,69,"同义",13203,"0.5167=31/60","位于基因组单拷贝区域+DNA结构正常",10392,"7p15-p14","NM_006092"]
["32629A(745)v22492",2,2,1,"32629A","NOS1","chr12:117647105","c.*6009A>G(exon30)","非编码区","rs10774906",0.53,0.43,0.45,0.4,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NOS1",0.98,80,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",4842,"12q24.2-q24.31","NM_001204218"]
["32629A(745)v22502",10,10,1,"32629A","NOS3","chr7:150695726","c.774T>C(exon7)","p.D258D","rs1549758",0.82,0.79,0.78,0.81,0.83,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17601350;17980690;18663495;19168583;24713495","缺血性中风（易感）",null,601367,5,1,7,4,"NOS3",0.96,48,"同义",13203,"1.0000=12/12","位于基因组单拷贝区域+DNA结构正常",4846,"7q36","NM_000603"]
["32629A(745)v22530",260,62,0.2385,"32629A","NOTCH2NL","chr1:145281633","c.563C>A(exon4)","p.P188H","rs28576333",{"$nulls":4},0.23,0.43,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,10,0,"NOTCH2NL",1,580,"非同义",12310,"0.2476=76/307","位于基因组多拷贝区域+DNA结构正常",388677,"1q21.2","NM_203458"]
["32629A(745)v22548",43,43,1,"32629A","NOTCH3","chr19:15302844","c.606A>G(exon4)","p.A202A","rs1043994",0.86,0.87,0.89,0.84,0.86,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16426270;22006983;22373597","常显遗传脑动脉病及动脉硬化伴皮质下梗死及白质脑病","AD",125310,5,1,10,2,"NOTCH3",0.98,41,"同义",13203,"1.0000=44/44","位于基因组单拷贝区域+DNA结构正常",4854,"19p13.2-p13.1","NM_000435"]
["32629A(745)v22589",119,51,0.4286,"32629A","NPC1","chr18:21120444","c.2572A>G(exon17)","p.I858V","rs1805082",0.49,0.6,0.6,0.59,0.62,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"尼曼-匹克病C1型","AR",257220,5,3,6,1,"NPC1",1,130,"非同义",12220,"0.4375=56/128","位于基因组单拷贝区域+DNA结构正常",4864,"18q11.2","NM_000271",null,"ILE858VAL|Benign;Likely benign|OMIM:257220|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v22632",39,19,0.4872,"32629A","NPRL2","chr3:50384978-50384978","c.*59(exon11)delG","非编码区","rs34963734",0.2,0.63,0.67,0.6,0.093,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"NPRL2",1,68,"非编码区",2420,"0.4510=23/51","位于基因组单拷贝区域+DNA结构正常",10641,"3p21.3","NM_006545"]
["32629A(745)v22657",49,48,0.9796,"32629A","NQO2","chr6:3015790","c.330A>G(exon5)","p.P110P","rs1049115",0.76,0.69,0.67,0.7,0.68,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乳腺癌，浸润性导管","AD",114480,5,1,3,1,"NQO2",1,110,"同义",13203,"0.9815=53/54","位于基因组单拷贝区域+DNA结构正常",4835,"6p25.2","NM_000904"]
["32629A(745)v22694",67,67,1,"32629A","NRAP","chr10:115405664","c.1030G>A(exon11)","p.A344T","rs3121478",0.56,0.72,0.7,0.75,0.72,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"NRAP",1,110,"非同义",12220,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",4892,"10q24-q26","NM_001261463"]
["32629A(745)v22750",24,13,0.5417,"32629A","NRXN1","chr2:50148972","c.*110G>A(exon24)","非编码区","rs1045881",0.17,0.11,0.12,0.097,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","21687627;18270208;21890328","染色体2q16.3缺失综合征/精神分裂症（易感）17型",null,614332,5,2,3,2,"NRXN1",1,120,"非编码区",14200,"0.6000=18/30","位于基因组单拷贝区域+DNA结构正常",9378,"2p16.3","NM_001135659","rs1045881|\"Increased_white_matter_volume_association_with\"|21687627"]
["32629A(745)v22761",71,71,1,"32629A","NSD1","chr5:176637576","c.2176T>C(exon5)","p.S726P","rs28932178",0.25,0.54,0.51,0.57,0.5,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;18001468","Sotos综合征1型",null,117550,5,1,4,3,"NSD1",1,120,"非同义",12220,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",64324,"5q35","NM_022455",null,"rs28932178|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202;SER726PRO|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v22831",58,30,0.5172,"32629A","NTRK3","chr15:88680684","c.573C>T(exon7)","p.N191N","rs1128994",0.27,0.23,0.25,0.21,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18367154,{"$nulls":3},5,null,3,0,"NTRK3",1,120,"同义",13203,"0.5373=36/67","位于基因组单拷贝区域+DNA结构正常",4916,"15q25","NM_001007156"]
["32629A(745)v22873",123,63,0.5122,"32629A","NUDT5","chr10:12209752","c.609A>G(exon10)","p.A203A","rs6686",0.46,0.61,0.62,0.59,0.54,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,1,0,"NUDT5",1,130,"同义",13203,"0.5039=64/127","位于基因组多拷贝区域+DNA结构正常",11164,"10p14","NM_014142"]
["32629A(745)v22888",69,69,1,"32629A","NUGGC","chr8:27927849","c.68G>C(exon3)","p.R23P","rs6998705",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NUGGC",1,100,"非同义",12220,"1.0000=77/77","位于基因组单拷贝区域+DNA结构正常",389643,"8p21.1","NM_001010906"]
["32629A(745)v22945",57,57,1,"32629A","NUP85","chr17:73230856","c.1740C>T(exon17)","p.D580D","rs9988",0.88,0.94,0.94,0.94,0.94,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NUP85",1,95,"同义",13203,"1.0000=66/66","位于基因组单拷贝区域+DNA结构正常",79902,"17q25.1","NM_024844"]
["32629A(745)v22987",17,8,0.4706,"32629A","NYNRIN","chr14:24877064","c.199-11A>G(exon3)","非编码区","rs77367832",0.063,0.26,0.28,0.25,0.25,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NYNRIN",1,63,"非编码区",16202,"0.4348=10/23","位于基因组单拷贝区域+DNA结构正常",57523,"14q12","NM_025081"]
["32629A(745)v23020",2,2,1,"32629A","OAS3","chr12:113408874","c.*1096A>G(exon16)","非编码区","rs739903",0.22,0.18,0.21,0.16,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"OAS3",1,72,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",4940,"12q24.2","NM_006187"]
["32629A(745)v23075",185,185,1,"32629A","OCA2","chr15:28231793","c.1183-4A>G(exon12)","非编码区","rs10852218",0.69,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17236130,"眼皮肤白化病2型","AR",203200,5,1,5,2,"OCA2",1,120,"非编码区",16202,"1.0000=204/204","位于基因组单拷贝区域+DNA结构正常",4948,"15q","NM_000275",null,"rs10852218|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v23107",22,22,1,"32629A","OGDHL","chr10:50943186","c.*88G>A(exon23)","非编码区","rs1258256",0.43,0.88,0.86,0.9,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OGDHL",1,71,"非编码区",14200,"1.0000=23/23","位于基因组单拷贝区域+DNA结构正常",55753,"10q11.23","NM_018245"]
["32629A(745)v23142",253,126,0.498,"32629A","OPA1","chr3:193334991","c.473G>A(exon4)","p.S158N","rs7624750",0.47,0.36,0.36,0.36,0.38,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"视神经萎缩1型","AD",165500,5,1,5,3,"OPA1",1,240,"非同义",12220,"0.5018=138/275","位于基因组单拷贝区域+DNA结构正常",4976,"3q28-q29","NM_130837",null,"SER158ASN|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v23149",13,4,0.3077,"32629A","OPA3","chr19:46057081","c.231T>C(exon2)","p.A77A","rs3826860",0.77,0.9,0.93,0.87,0.86,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"3-甲基戊烯二酸尿症3型","AR",258501,5,3,3,2,"OPA3",1,25,"同义",13203,"0.2857=4/14","位于基因组单拷贝区域+DNA结构正常",80207,"19q13.32","NM_025136",null,"rs3826860|Benign;Likely benign|OMIM:165300|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v23197",167,62,0.3713,"32629A","OR10G4","chr11:123886320","c.39A>G(exon1)","p.T13T","rs12224056",{"$nulls":4},0.34,0.22,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"OR10G4",1,200,"同义",13303,"0.3874=74/191","位于基因组多拷贝区域+DNA结构正常",390264,"11q24.1","NM_001004462"]
["32629A(745)v23245",132,47,0.3561,"32629A","OR11H12","chr14:19378030","c.437T>A(exon1)","p.L146H","rs138051664",{"$nulls":4},0.49,0.4,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"OR11H12",1,290,"非同义",12320,"0.3467=52/150","位于基因组多拷贝区域+DNA结构正常",440153,"14q11.2","NM_001013354"]
["32629A(745)v23272",177,103,0.5819,"32629A","OR13C5","chr9:107361312","c.383A>G(exon1)","p.N128S","rs1851723",0.24,0.39,0.42,0.36,0.44,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"OR13C5",1,230,"非同义",12210,"0.5539=113/204","位于基因组多拷贝区域+DNA结构正常",138799,"9q31.1","NM_001004482"]
["32629A(745)v23329",134,66,0.4925,"32629A","OR1B1","chr9:125391770-125391771","c.44(exon1)_c.45(exon1)insT","p.L15Ffs*9","rs11421222",0.41,0.36,0.33,0.39,0.33,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"OR1B1",1,120,"移码",2120,"0.4895=70/143","位于基因组单拷贝区域+简单重复结构",347169,"9q33.2","NM_001004450"]
["32629A(745)v23374",122,122,1,"32629A","OR1S1","chr11:57982229","c.13A>G(exon1)","p.S5G","rs1966836",0.66,0.85,0.85,0.84,0.84,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"OR1S1",1,180,"非同义",12220,"1.0000=148/148","位于基因组多拷贝区域+DNA结构正常",219959,"11q12.1","NM_001004458"]
["32629A(745)v23404",92,44,0.4783,"32629A","OR2B2","chr6:27879551","c.547G>C(exon1)","p.A183P","rs9368537",0.058,0.084,0.057,0.11,0.1,0.094,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR2B2",1,130,"非同义",12210,"0.5048=53/105","位于基因组多拷贝区域+DNA结构正常",81697,"6p22.3-p21.3","NM_033057"]
["32629A(745)v23461",91,46,0.5055,"32629A","OR2T12","chr1:248458571","c.310A>T(exon1)","p.T104S","rs12137982",0.39,0.49,0.49,0.49,0.36,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"OR2T12",1,260,"非同义",12210,"0.4951=51/103","位于基因组多拷贝区域+DNA结构正常",127064,"1q44","NM_001004692"]
["32629A(745)v23480",141,138,0.9787,"32629A","OR2T33","chr1:248436611","c.506C>T(exon1)","p.A169V","rs10888338",0.65,0.81,0.83,0.79,0.82,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OR2T33",1,290,"非同义",12220,"0.9819=163/166","位于基因组多拷贝区域+DNA结构正常",391195,"1q44","NM_001004695"]
["32629A(745)v23530",61,33,0.541,"32629A","OR2Y1","chr5:180166141","c.918G>A(exon1)","p.R306R","rs9329115",0.095,0.1,0.076,0.13,0.099,0.081,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR2Y1",1,92,"同义",13203,"0.5075=34/67","位于基因组单拷贝区域+DNA结构正常",134083,"5q35.3","NM_001001657"]
["32629A(745)v23593",94,47,0.5,"32629A","OR4C3","chr11:48347358","c.866C>T(exon1)","p.T289I","rs76274696",{"$nulls":4},0.5,0.44,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,39,0,"OR4C3",1,140,"非同义",12310,"0.5268=59/112","位于基因组单拷贝区域+DNA结构正常",256144,"11p11.2","NM_001004702"]
["32629A(745)v23612",112,112,1,"32629A","OR4K15","chr14:20444490","c.813C>T(exon1)","p.V271V","rs11158071",0.57,0.84,0.83,0.84,0.83,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR4K15",1,96,"同义",13203,"1.0000=127/127","位于基因组多拷贝区域+DNA结构正常",81127,"14q11.2","NM_001005486"]
["32629A(745)v23659",102,45,0.4412,"32629A","OR51B2","chr11:5344681","c.847C>T(exon1)","p.P283S","rs11036815",0.26,0.2,0.2,0.2,0.21,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"OR51B2",1,99,"非同义",12210,"0.4554=51/112","位于基因组多拷贝区域+DNA结构正常",79345,"11p15","NM_033180"]
["32629A(745)v23687",79,46,0.5823,"32629A","OR51Q1","chr11:5443739","c.309T>C(exon1)","p.F103F","rs2736587",0.45,0.73,0.75,0.7,0.7,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"OR51Q1",1,87,"同义",13203,"0.5714=48/84","位于基因组单拷贝区域+DNA结构正常",390061,"11p15.4","NM_001004757"]
["32629A(745)v23744",275,275,1,"32629A","OR52N1","chr11:5809308","c.739T>A(exon1)","p.F247I","rs7934670",0.92,0.92,0.9,0.94,0.89,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR52N1",1,210,"非同义",12220,"1.0000=317/317","位于基因组多拷贝区域+DNA结构正常",79473,"11p15.4","NM_001001913"]
["32629A(745)v23801",52,26,0.5,"32629A","OR5F1","chr11:55762060","c.42A>G(exon1)","p.L14L","rs71490418",0.13,0.14,0.12,0.15,0.14,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR5F1",1,82,"同义",13203,"0.5000=30/60","位于基因组多拷贝区域+DNA结构正常",338674,"11q12.1","NM_003697"]
["32629A(745)v23815",194,103,0.5309,"32629A","OR5H1","chr3:97852229","c.688T>A(exon1)","p.S230T","rs9849637",0.24,0.11,0.1,0.13,0.13,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR5H1",1,190,"非同义",12210,"0.5249=116/221","位于基因组多拷贝区域+DNA结构正常",26341,"3q11.2","NM_001005338"]
["32629A(745)v23876",91,50,0.5495,"32629A","OR6C74","chr12:55641295","c.224A>G(exon1)","p.Y75C","rs4388990",0.24,0.14,0.1,0.18,0.13,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OR6C74",1,80,"非同义",12220,"0.5253=52/99","位于基因组多拷贝区域+DNA结构正常",254783,"12q13.2","NM_001005490"]
["32629A(745)v23891",90,44,0.4889,"32629A","OR6N2","chr1:158746678","c.748A>G(exon1)","p.I250V","rs41273541",0.18,0.16,0.18,0.14,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR6N2",1,99,"非同义",12220,"0.5000=51/102","位于基因组单拷贝区域+DNA结构正常",81442,"1q23.1","NM_001005278"]
["32629A(745)v23952",66,31,0.4697,"32629A","OR8B4","chr11:124294703","c.65A>G(exon1)","p.E22G","rs10750270",0.35,0.61,0.64,0.58,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"OR8B4",1,120,"非同义",12210,"0.4627=31/67","位于基因组单拷贝区域+DNA结构正常",283162,"11q24.2","NM_001005196"]
["32629A(745)v23975",86,86,1,"32629A","OR8G5","chr11:124135481","c.759C>T(exon1)","p.Y253Y","rs2466701",0.44,0.62,0.62,0.61,0.59,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OR8G5",1,130,"同义",13203,"1.0000=101/101","位于基因组多拷贝区域+DNA结构正常",219865,"11q24.2","NM_001005198"]
["32629A(745)v24027",164,96,0.5854,"32629A","OR8U1","chr11:56143434","c.335C>G(exon1)","p.S112C","rs10791961",0.34,0.14,0.14,0.14,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,80,0,"OR8U1",1,140,"非同义",12220,"0.5699=106/186","位于基因组单拷贝区域+DNA结构正常",219417,"11q12.1","NM_001005204"]
["32629A(745)v24084",162,77,0.4753,"32629A","OR9G1","chr11:56468198","c.335A>G(exon1)","p.Y112C","rs4990194",0.0056,0,0,0,0.5,0.5,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,31,0,"OR9G1",1,170,"非同义",12110,"0.4740=82/173","位于基因组单拷贝区域+DNA结构正常",390174,"11q12.1","NM_001005213"]
["32629A(745)v24104",216,58,0.2685,"32629A","OR9G1","chr11:56468704","c.841T>C(exon1)","p.F281L","rs79288825",{"$nulls":4},0.46,0.48,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,31,0,"OR9G1",1,170,"非同义",12320,"0.2780=67/241","位于基因组多拷贝区域+DNA结构正常",390174,"11q12.1","NM_001005213"]
["32629A(745)v24155",167,167,1,"32629A","OSBPL6","chr2:179203797","c.870G>A(exon10)","p.S290S","rs1434087",0.92,0.96,0.95,0.96,0.96,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OSBPL6",1,170,"同义",13203,"1.0000=199/199","位于基因组单拷贝区域+DNA结构正常",114880,"2q32.1","NM_001201480"]
["32629A(745)v24212",9,9,1,"32629A","OTP","chr5:76926578","c.489A>G(exon3)","p.K163K","rs13357072",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OTP",1,31,"同义",13203,"1.0000=12/12","位于基因组单拷贝区域+DNA结构正常",23440,"5q13.3","NM_032109"]
["32629A(745)v24231",104,51,0.4904,"32629A","OVCH1","chr12:29648275","c.397C>T(exon4)","p.R133C","rs10843438",0.45,0.53,0.59,0.48,0.49,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"OVCH1",1,160,"非同义",12220,"0.4957=58/117","位于基因组单拷贝区域+DNA结构正常",341350,"12p11.22","NM_183378"]
["32629A(745)v24297",3,3,1,"32629A","P2RX5","chr17:3599662","c.-363G>C(exon1)","非编码区","rs8066216",0.4,0.52,0.54,0.49,0.58,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"P2RX5",1,60,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",5026,"17p13.3","NM_002561"]
["32629A(745)v24302",99,48,0.4848,"32629A","P2RX7","chr12:121603856","c.615-5C>G(exon7)","非编码区","rs208307",0.25,0.11,0.12,0.092,0.1,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"P2RX7",1,120,"非编码区",16202,"0.4872=57/117","位于基因组单拷贝区域+DNA结构正常",5027,"12q24","NM_002562"]
["32629A(745)v24363",210,61,0.2905,"32629A","PABPC3","chr13:25671206","c.870A>G(exon1)","p.R290R","rs76614854",{"$nulls":4},0.31,0.00023,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,37,0,"PABPC3",1,190,"同义",13303,"0.3140=76/242","位于基因组多拷贝区域+DNA结构正常",5042,"13q12-q13","NM_030979"]
["32629A(745)v24385",59,35,0.5932,"32629A","PADI1","chr1:17563967","c.1458+14T>C(exon12)","非编码区","rs2977306",0.48,0.44,0.4,0.49,0.45,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PADI1",1,83,"非编码区",16203,"0.5970=40/67","位于基因组单拷贝区域+DNA结构正常",29943,"1p36.13","NM_013358"]
["32629A(745)v24434",35,35,1,"32629A","PALD1","chr10:72298631","c.1453-17T>C(exon13)","非编码区","rs1122918",0.9,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PALD1",1,63,"非编码区",16202,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",27143,"10q22.1","NM_014431"]
["32629A(745)v24492",30,18,0.6,"32629A","PAQR6","chr1:156215562","c.67+11C>T(exon3)","非编码区","rs2075166",0.2,0.21,0.24,0.18,0.24,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PAQR6",1,63,"非编码区",16203,"0.6250=20/32","位于基因组单拷贝区域+DNA结构正常",79957,"1q22","NM_024897"]
["32629A(745)v24507",26,15,0.5769,"32629A","PARD6G","chr18:77918221","c.564G>A(exon3)","p.E188E","rs2280349",0.25,0.47,0.49,0.45,0.41,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PARD6G",1,40,"同义",13203,"0.5926=16/27","位于基因组单拷贝区域+DNA结构正常",84552,"18q23","NM_032510"]
["32629A(745)v24573",30,15,0.5,"32629A","PASK","chr2:242062130","c.3072+17G>C(exon12)","非编码区","rs2302049",0.15,0.036,0.048,0.024,0.035,0.036,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"PASK",1,76,"非编码区",16203,"0.4848=16/33","位于基因组单拷贝区域+DNA结构正常",23178,"2q37.3","NM_001252124"]
["32629A(745)v24607",151,72,0.4768,"32629A","PBK","chr8:27690557","c.58+16T>G(exon2)","非编码区","rs10113621",0.22,0.35,0.38,0.32,0.36,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PBK",1,150,"非编码区",16203,"0.4754=87/183","位于基因组单拷贝区域+DNA结构正常",55872,"8p21.2","NM_018492"]
["32629A(745)v24622",18,9,0.5,"32629A","PBXIP1","chr1:154917314","c.*186C>T(exon11)","非编码区","rs705094",0.51,0.87,0.86,0.88,0.88,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PBXIP1",1,48,"非编码区",14200,"0.5000=9/18","位于基因组单拷贝区域+DNA结构正常",57326,"1q21.3","NM_020524"]
["32629A(745)v24658",81,37,0.4568,"32629A","PCDHA5","chr5:140391475","c.*1953A>G(exon4)","非编码区","rs7701616",0.059,0.067,0.081,0.053,0.075,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PCDHA5",1,170,"非编码区",14200,"0.4421=42/95","位于基因组单拷贝区域+DNA结构正常",56143,"5q31","NM_018908"]
["32629A(745)v24658",81,37,0.4568,"32629A","PCDHA8","chr5:140391475","c.*1953A>G(exon4)","非编码区","rs7701616",0.059,0.067,0.081,0.053,0.075,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PCDHA8",1,160,"非编码区",14200,"0.4421=42/95","位于基因组单拷贝区域+DNA结构正常",56140,"5q31","NM_018911"]
["32629A(745)v24714",117,60,0.5128,"32629A","PCDHB3","chr5:140481833","c.1600A>G(exon1)","p.T534A","rs13157538",0.057,0.072,0.081,0.063,0.074,0.066,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"PCDHB3",1,120,"非同义",12220,"0.5379=71/132","位于基因组多拷贝区域+DNA结构正常",56132,"5q31","NM_018937"]
["32629A(745)v24775",109,58,0.5321,"32629A","PCDHGA5","chr5:140745224","c.1327G>A(exon1)","p.A443T","rs79266084",0.023,0.036,0.043,0.029,0.034,0.039,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"PCDHGA5",1,120,"非同义",12120,"0.5424=64/118","位于基因组单拷贝区域+DNA结构正常",56110,"5q31","NM_018918"]
["32629A(745)v24811",72,36,0.5,"32629A","PCDHGB6","chr5:140789158","c.1389G>A(exon1)","p.E463E","rs72790040",0.022,0.036,0.043,0.029,0.035,0.039,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"PCDHGB6",1,120,"同义",13103,"0.4675=36/77","位于基因组多拷贝区域+DNA结构正常",56100,"5q31","NM_018926"]
["32629A(745)v24850",55,24,0.4364,"32629A","PCLO","chr7:82784833-82784834","c.1123(exon2)_c.1124(exon2)insCTCTTGGTCCTGCTAAGCCTCCAGCTC","p.Q375delinsPLGPAKPPAQ",{"$nulls":7},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,11,0,"PCLO",1,110,"非移码",2243,"0.4516=28/62","位于基因组单拷贝区域+DNA结构正常",27445,"7q11.23-q21.3","NM_033026"]
["32629A(745)v24903",61,35,0.5738,"32629A","PCSK6","chr15:101924546","c.1395G>A(exon10)","p.V465V","rs1135911",0.14,0.18,0.19,0.17,0.17,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PCSK6",0.97,81,"同义",13203,"0.5797=40/69","位于基因组单拷贝区域+DNA结构正常",5046,"15q26.3","NM_002570"]
["32629A(745)v24918",54,54,1,"32629A","PCTP","chr17:53851228","c.267C>T(exon4)","p.I89I","rs2960062",0.78,0.94,0.95,0.93,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PCTP",1,85,"同义",13203,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",58488,"17q21-q24","NM_001102402"]
["32629A(745)v24960",115,115,1,"32629A","PDE3A","chr12:20803549","c.2925+15T>C(exon14)","非编码区","rs10743384",0.54,0.76,0.78,0.75,0.74,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PDE3A",0.99,130,"非编码区",16203,"1.0000=134/134","位于基因组单拷贝区域+DNA结构正常",5139,"12p12","NM_000921"]
["32629A(745)v24990",159,86,0.5409,"32629A","PDE4DIP","chr1:144873887","c.5070G>A(exon31)","p.Q1690Q","rs1699787",{"$nulls":4},0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,69,0,"PDE4DIP",1,170,"同义",13303,"0.5588=95/170","位于基因组多拷贝区域+DNA结构正常",9659,"1q12","NM_014644"]
["32629A(745)v25049",220,110,0.5,"32629A","PDE7A","chr8:66701147","c.30C>T(exon1)","p.A10A","rs61736485",0.015,0.029,0.014,0.044,0.041,0.037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"PDE7A",1,180,"同义",13103,"0.5115=133/260","位于基因组单拷贝区域+DNA结构正常",5150,"8q13","NM_002603"]
["32629A(745)v25074",88,36,0.4091,"32629A","PDGFRL","chr8:17500119","c.940-3C>T(exon7)","非编码区","rs17633132",0.12,0.12,0.14,0.097,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22926996,"肝癌","AD",114550,5,1,4,2,"PDGFRL",1,130,"非编码区",16202,"0.4100=41/100","位于基因组单拷贝区域+DNA结构正常",5157,"8p22-p21.3","NM_006207","rs17633132|\"BehÃ§et_disease_association_with\"|22926996"]
["32629A(745)v25106",130,71,0.5462,"32629A","PDILT","chr16:20376734","c.1237+8T>C(exon9)","非编码区","rs8052918",0.48,0.25,0.23,0.27,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PDILT",1,140,"非编码区",16203,"0.5325=82/154","位于基因组单拷贝区域+DNA结构正常",204474,"16p12.3","NM_174924"]
["32629A(745)v25167",87,47,0.5402,"32629A","PDZD2","chr5:32058115","c.2106A>G(exon11)","p.S702S","rs151861",0.88,0.77,0.8,0.75,0.75,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PDZD2",1,98,"同义",13203,"0.5158=49/95","位于基因组单拷贝区域+DNA结构正常",23037,"5p13.3","NM_178140"]
["32629A(745)v25181",45,16,0.3556,"32629A","PDZRN3","chr3:73433369","c.2348C>T(exon10)","p.A783V","rs3205537",0.27,0.44,0.45,0.42,0.43,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PDZRN3",0.97,58,"非同义",12220,"0.3265=16/49","位于基因组单拷贝区域+DNA结构正常",23024,"3p13","NM_015009"]
["32629A(745)v25232",89,40,0.4494,"32629A","PER2","chr2:239165636","c.1992G>A(exon17)","p.A664A","rs2304670",0.093,0.058,0.067,0.049,0.055,0.053,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18663240,"家族性睡眠时相提前综合症","AD",604348,5,1,3,1,"PER2",1,87,"同义",13203,"0.4700=47/100","位于基因组单拷贝区域+DNA结构正常",8864,"2q37.3","NM_022817"]
["32629A(745)v25286",48,48,1,"32629A","PFKP","chr10:3150973","c.927C>T(exon11)","p.F309F","rs1132173",0.37,0.53,0.57,0.5,0.44,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PFKP",0.97,88,"同义",13203,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",5214,"10p15.3-p15.2","NM_001242339"]
["32629A(745)v25301",50,50,1,"32629A","PGBD3","chr10:50723684","c.1477C>T(exon2)","p.L493L","rs4253073",0.89,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PGBD3",1,77,"同义",13203,"1.0000=54/54","位于基因组多拷贝区域+DNA结构正常",267004,"10q11","NM_170753"]
["32629A(745)v25345",4,2,0.5,"32629A","PHACTR1","chr6:13287649-13287649","c.*339(exon15)delG","非编码区","rs34931301",0.38,0.29,0.27,0.31,0,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PHACTR1",1,110,"非编码区",2420,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",221692,"6p24.1","NM_030948"]
["32629A(745)v25372",217,216,0.9954,"32629A","PHF21A","chr11:45975130","c.1040G>A(exon10)","p.R347H","rs3736508",0.17,0.56,0.52,0.61,0.62,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PHF21A",1,130,"非同义",12220,"0.9961=257/258","位于基因组单拷贝区域+DNA结构正常",51317,"11p11.2","NM_001101802"]
["32629A(745)v25425",56,22,0.3929,"32629A","PHYHD1","chr9:131702891","c.578A>G(exon10)","p.E193G","rs2273866",0.35,0.22,0.23,0.21,0.2,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PHYHD1",1,73,"非同义",12220,"0.4032=25/62","位于基因组单拷贝区域+DNA结构正常",254295,"9q34.11","NM_174933"]
["32629A(745)v25480",11,6,0.5455,"32629A","PIEZO2","chr18:10705744","c.5250C>T(exon37)","p.S1750S","rs7227022",0.3,0.38,0.39,0.37,0.41,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"MARDEN-WALKER综合征","AD",248700,5,1,11,3,"PIEZO2",1,140,"同义",13202,"0.3846=5/13","位于基因组单拷贝区域+DNA结构正常",63895,"18p11.22","NM_022068"]
["32629A(745)v25484",146,146,1,"32629A","PIEZO2","chr18:10758023","c.3792C>T(exon25)","p.N1264N","rs7407105",0.82,0.93,0.91,0.94,0.91,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"远端关节弯曲3型","AD",114300,5,1,11,3,"PIEZO2",1,140,"同义",13203,"1.0000=156/156","位于基因组单拷贝区域+DNA结构正常",63895,"18p11.22","NM_022068"]
["32629A(745)v25537",42,42,1,"32629A","PIGT","chr20:44054349","c.1620T>C(exon12)","p.Y540Y","rs707577",0.71,0.48,0.5,0.46,0.47,0.53,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"阵发性睡眠性血红蛋白尿2型","AD",615399,5,1,2,2,"PIGT",1,75,"同义",13203,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",51604,"20q12-q13.12","NM_015937"]
["32629A(745)v25552",7,2,0.2857,"32629A","PIH1D1","chr19:49955016","c.-185C>A(exon1)","非编码区","rs2293011",0.61,0.42,0.44,0.39,0.31,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PIH1D1",1,80,"非编码区",14200,"0.2857=2/7","位于基因组单拷贝区域+DNA结构正常",55011,"19q13.33","NM_017916"]
["32629A(745)v25596",193,65,0.3368,"32629A","PIKFYVE","chr2:209184999","c.2106C>T(exon17)","p.P702P","rs10932259",0.91,0.93,0.93,0.93,0.93,0.94,"杂合","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",1,180,"同义",13203,"0.3275=75/229","位于基因组单拷贝区域+DNA结构正常",200576,"2q34","NM_015040"]
["32629A(745)v25662",22,15,0.6818,"32629A","PKD1L2","chr16:81134541","c.*187C>T(exon43)","非编码区","rs80096476",0.079,0.17,0.18,0.17,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,46,0,"PKD1L2",1,88,"非编码区",14200,"0.6957=16/23","位于基因组单拷贝区域+DNA结构正常",114780,"16q23.2","NM_052892"]
["32629A(745)v25677",72,72,1,"32629A","PKD1L2","chr16:81198306","c.3288G>T(exon20)","p.L1096L","rs10400943",0.23,0.39,0.42,0.35,0.42,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,46,0,"PKD1L2",1,88,"同义",13203,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",114780,"16q23.2","NM_052892"]
["32629A(745)v25734",31,15,0.4839,"32629A","PKDCC","chr2:42284884","c.*56T>C(exon7)","非编码区","rs1044305",0.27,0.49,0.5,0.47,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PKDCC",0.97,38,"非编码区",14200,"0.5294=18/34","位于基因组单拷贝区域+DNA结构正常",91461,"2p21","NM_138370"]
["32629A(745)v25749",213,102,0.4789,"32629A","PKN2","chr1:89225976","c.421T>C(exon3)","p.L141L","rs430600",0.75,0.65,0.66,0.64,0.63,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PKN2",1,220,"同义",13203,"0.4647=112/241","位于基因组单拷贝区域+DNA结构正常",5586,"1p22.2","NM_006256"]
["32629A(745)v25807",66,17,0.2576,"32629A","PLA2G4D","chr15:42378392-42378393","c.387+18(exon4)_c.387+19(exon4)insGGGG","非编码区","rs747034999",{"$nulls":5},4.3E-3,"杂合","未知","内含子突变",{"$nulls":4},4,null,6,0,"PLA2G4D",1,83,"非编码区",2500,"0.2647=18/68","位于基因组单拷贝区域+DNA结构正常",283748,"15q15.1","NM_178034"]
["32629A(745)v25860",32,32,1,"32629A","PLCD3","chr17:43192549-43192550","c.1622(exon10)_c.1623(exon10)insG","p.R541Rfs*250","rs35911033",1,1,1,1,0.98,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PLCD3",1,57,"移码",2120,"1.0000=33/33","位于基因组单拷贝区域+DNA结构正常",113026,"17q21.31","NM_133373"]
["32629A(745)v25875",80,80,1,"32629A","PLCG2","chr16:81819768","c.174T>C(exon2)","p.A58A","rs1143685",0.73,0.88,0.88,0.88,0.88,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性寒冷性自身炎症综合征3型","AD",614468,5,1,7,2,"PLCG2",1,110,"同义",13203,"1.0000=97/97","位于基因组单拷贝区域+DNA结构正常",5336,"16q24.1","NM_002661"]
["32629A(745)v25935",106,53,0.5,"32629A","PLEKHG5","chr1:6579607","c.-36G>A(exon1)","非编码区","rs1556035",0.75,0.8,0.79,0.81,0.82,0.8,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"远端脊髓肌萎缩症4型","AR",611067,5,3,3,2,"PLEKHG5",0.97,41,"非编码区",14200,"0.4878=60/123","位于基因组单拷贝区域+DNA结构正常",57449,"1p36.31","NM_198681"]
["32629A(745)v25940",70,41,0.5857,"32629A","PLEKHG6","chr12:6427052","c.951C>T(exon9)","p.H317H","rs1468603",0.37,0.27,0.29,0.26,0.25,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PLEKHG6",1,67,"同义",13203,"0.5769=45/78","位于基因组单拷贝区域+DNA结构正常",55200,"12p13.31","NM_001144857"]
["32629A(745)v25997",69,69,1,"32629A","PLIN4","chr19:4511140","c.2790G>C(exon3)","p.G930G","rs7255715",0.61,0.66,0.66,0.66,0.64,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"PLIN4",1,120,"同义",13203,"1.0000=78/78","位于基因组多拷贝区域+DNA结构正常",729359,"19p13.3","NM_001080400"]
["32629A(745)v26061",37,37,1,"32629A","PLXNB1","chr3:48451301-48451301","c.5778+13(exon32)delC","非编码区","rs398051914",0.35,0.3,0.28,0.33,0.0078,0.34,"纯合","未知","内含子突变",{"$nulls":4},4,null,4,0,"PLXNB1",1,49,"非编码区",2500,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",5364,"3p21.31","NM_002673"]
["32629A(745)v26072",50,28,0.56,"32629A","PLXNB2","chr22:50722134","c.2467A>G(exon15)","p.I823V","rs11547731",0.65,0.56,0.53,0.6,0.59,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PLXNB2",1,47,"非同义",12220,"0.5893=33/56","位于基因组单拷贝区域+DNA结构正常",23654,"22q13.33","NM_012401"]
["32629A(745)v26123",51,21,0.4118,"32629A","PMP2","chr8:82355518","c.*115T>C(exon4)","非编码区","rs6990882",0.35,0.72,0.76,0.68,0.7,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PMP2",1,160,"非编码区",14200,"0.4259=23/54","位于基因组单拷贝区域+DNA结构正常",5375,"8q21.3-q22.1","NM_002677"]
["32629A(745)v26136",77,40,0.5195,"32629A","PMS2","chr7:6038722","c.705+17A>G(exon6)","非编码区","rs62456182",0.33,0.37,0.32,0.42,0.4,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;14756672;16472587;20205264","错配修复肿瘤综合征（Lynch综合征）","AR",276300,5,3,7,2,"PMS2",0.95,120,"非编码区",16203,"0.5465=47/86","位于基因组单拷贝区域+DNA结构正常",5395,"7p22.2","NM_000535",null,"rs62456182|Benign|NA|NA|reviewed by expert panel|PubMed:23757202"]
["32629A(745)v26201",73,73,1,"32629A","POC1B-GALNT4","chr12:89917518","c.800T>C(exon3)","p.I267T","rs2230281",0.73,0.79,0.73,0.85,0.81,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"POC1B-GALNT4",0.05,6.3,"非同义",12220,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",100528030,"12q","NM_001199781"]
["32629A(745)v26243",74,41,0.5541,"32629A","POLE","chr12:133202759","c.6475C>T(exon46)","p.R2159C","rs5745067",0.0002,0.0024,0,0.0049,1.9E-3,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"FILS综合征（面部异形，免疫缺陷，青斑和身材矮小）","AR",615139,2,3,8,2,"POLE",1,79,"非同义",12110,"0.5181=43/83","位于基因组单拷贝区域+DNA结构正常",5426,"12q24.3","NM_006231"]
["32629A(745)v26256",217,217,1,"32629A","POLN","chr4:2160894","c.1599G>A(exon12)","p.L533L","rs10488836",0.2,0.34,0.34,0.33,0.34,0.35,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"POLN",1,130,"同义",13203,"1.0000=240/240","位于基因组单拷贝区域+DNA结构正常",353497,"4p16.3","NM_181808"]
["32629A(745)v26322",184,183,0.9946,"32629A","POLR3D","chr8:22105502","c.342T>C(exon4)","p.A114A","rs1126677",null,0.81,0.82,0.81,0.84,0.83,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"POLR3D",1,100,"同义",13303,"0.9951=202/203","位于基因组单拷贝区域+DNA结构正常",661,"8q21","NM_001722"]
["32629A(745)v26356",41,41,1,"32629A","POMT2","chr14:77745193","c.1911T>G(exon19)","p.L637L","rs3209079",0.85,0.96,0.97,0.95,0.97,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","肌营养不良-抗肌萎缩相关糖蛋白病（先天性伴有智力低下）B型2","AR",613156,5,1,5,3,"POMT2",1,120,"同义",13203,"1.0000=47/47","位于基因组单拷贝区域+DNA结构正常",29954,"14q24","NM_013382",null,"rs3209079|Benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v26364",141,78,0.5532,"32629A","POMZP3","chr7:76255019","c.66-19A>G(exon3)","非编码区","rs56046726",0.19,0.22,0.21,0.23,0.27,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"POMZP3",1,220,"非编码区",16202,"0.5641=88/156","位于基因组多拷贝区域+DNA结构正常",22932,"7q11.23","NM_012230"]
["32629A(745)v26415",137,49,0.3577,"32629A","POTEF","chr2:130877752","c.337A>G(exon3)","p.S113G","rs2897665",{"$nulls":4},0.61,0.54,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"POTEF",1,280,"非同义",12320,"0.3699=54/146","位于基因组多拷贝区域+DNA结构正常",728378,"2q21.1","NM_001099771"]
["32629A(745)v26448",31,17,0.5484,"32629A","PPAN-P2RY11","chr19:10221151","c.902-10C>G(exon10)","非编码区","rs2305792",0.36,0.29,0.28,0.3,0.25,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PPAN-P2RY11",1,29,"非编码区",16201,"0.5294=18/34","位于基因组单拷贝区域+DNA结构正常",692312,"19p13","NM_001198690"]
["32629A(745)v26488",132,68,0.5152,"32629A","PPFIBP2","chr11:7673015","c.2376G>A(exon23)","p.E792E","rs5864",0.66,0.57,0.58,0.56,0.57,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PPFIBP2",0.98,150,"同义",13203,"0.4966=73/147","位于基因组单拷贝区域+DNA结构正常",8495,"11p15.4","NM_003621"]
["32629A(745)v26545",52,52,1,"32629A","PPP1R26","chr9:138377657","c.1301T>C(exon4)","p.M434T","rs1808998",0.46,0.73,0.74,0.71,0.69,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PPP1R26",1,38,"非同义",12220,"1.0000=56/56","位于基因组多拷贝区域+DNA结构正常",9858,"9q34.3","NM_014811"]
["32629A(745)v26575",16,8,0.5,"32629A","PPP2R1B","chr11:111637117-111637118","c.-33(exon1)_c.-32(exon1)insGCCTGGGCGCGGGGCGGGGCCTGGGCGCGGGGCGGG","非编码区",{"$nulls":5},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",null,"肺癌","AR",211980,3,3,1,1,"PPP2R1B",1,150,"非编码区",2440,"0.4706=8/17","位于基因组单拷贝区域+DNA结构正常",5519,"11q23.2","NM_002716"]
["32629A(745)v26620",68,42,0.6176,"32629A","PPYR1","chr10:47087501","c.718C>T(exon3)","p.R240C","rs3824733",{"$nulls":4},0.39,0.47,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,8,0,"PPYR1",1,140,"非同义",12310,"0.6400=48/75","位于基因组单拷贝区域+DNA结构正常",5540,"10q11.2","NM_005972"]
["32629A(745)v26639",21,21,1,"32629A","PRAMEF19","chr1:13695787","c.1178G>C(exon3)","p.G393A","rs12131695",0.99,1,1,1,0.59,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PRAMEF19",1,240,"非同义",12220,"1.0000=22/22","位于基因组多拷贝区域+DNA结构正常",645414,"1p36.21","NM_001099790"]
["32629A(745)v26696",6,6,1,"32629A","PRDM13","chr6:100062740","c.*105A>G(exon4)","非编码区","rs3734347",0.33,0.68,0.7,0.67,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PRDM13",1,37,"非编码区",14200,"1.0000=6/6","位于基因组单拷贝区域+DNA结构正常",59336,"6q16.2","NM_021620"]
["32629A(745)v26735",44,44,1,"32629A","PREB","chr2:27354173","c.*109G>T(exon9)","非编码区","rs11126874",0.98,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PREB",1,77,"非编码区",14200,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",10113,"2p23.3","NM_013388"]
["32629A(745)v26771",177,177,1,"32629A","PRG4","chr1:186277088","c.2237G>C(exon7)","p.C746S","rs68069719",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Jacob综合征","AR",208250,5,1,2,1,"PRG4",1,240,"非同义",12220,"1.0000=199/199","位于基因组多拷贝区域+DNA结构正常",23572,"-","NM_005807"]
["32629A(745)v26822",109,49,0.4495,"32629A","PRKCG","chr19:54394965","c.567T>C(exon6)","p.N189N","rs3745406",0.33,0.28,0.28,0.28,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17508994;25663494","脊髓小脑性共济失调14型（属于ADCA III型）","AD",605361,5,1,4,1,"PRKCG",1,77,"同义",13203,"0.4688=60/128","位于基因组单拷贝区域+DNA结构正常",5582,"19q13.4","NM_002739",null,"rs3745406|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v26837",99,52,0.5253,"32629A","PRKD3","chr2:37505105","c.1200A>C(exon8)","p.L400L","rs10460527",0.22,0.32,0.31,0.33,0.34,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PRKD3",1,150,"同义",13203,"0.5000=57/114","位于基因组单拷贝区域+DNA结构正常",23683,"2p21","NM_005813"]
["32629A(745)v26879",25,25,1,"32629A","PRODH","chr22:18904414","c.1515T>C(exon13)","p.F505F","rs455072",0.84,0.89,0.88,0.9,0.91,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精神分裂症4型（易感）","AD",600850,5,1,11,2,"PRODH",1,52,"同义",13203,"1.0000=27/27","位于基因组多拷贝区域+DNA结构正常",5625,"22q11.21","NM_016335"]
["32629A(745)v26926",30,30,1,"32629A","PRPH2","chr6:42666061","c.1013A>G(exon3)","p.D338G","rs434102",null,0.86,0.87,0.85,0.85,0.86,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","23105016;22948568","白点状视网膜变性","AD,AR",136880,3,1,5,5,"PRPH2",1,60,"非同义",12320,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",5961,"6p21.2-p12.3","NM_000322","ASP338GLY|\"Retinitis_pigmentosa\"|23105016","ASP338GLY|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v26929",44,44,1,"32629A","PRPH2","chr6:42689755","c.318T>C(exon1)","p.V106V","rs7764439",0.58,0.58,0.58,0.58,0.59,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;22948568","中心性晕轮样脉络膜营养不良","AD",613105,5,1,5,5,"PRPH2",1,60,"同义",13203,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",5961,"6p21.2-p12.3","NM_000322",null,"rs7764439|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v26970",15,10,0.6667,"32629A","PRR5","chr22:45128232","c.585T>C(exon8)","p.R195R","rs8141631",0.38,0.34,0.38,0.31,0.4,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"PRR5",0.93,3.2,"同义",13203,"0.6667=10/15","位于基因组单拷贝区域+DNA结构正常",55615,"22q13","NM_001198721"]
["32629A(745)v27031",12,4,0.3333,"32629A","PRSS22","chr16:2903081","c.*13C>T(exon6)","非编码区","rs3743944",0.52,0.48,0.52,0.44,0.46,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PRSS22",1,58,"非编码区",14200,"0.3571=5/14","位于基因组单拷贝区域+DNA结构正常",64063,"16p13.3","NM_022119"]
["32629A(745)v27050",163,37,0.227,"32629A","PRSS3","chr9:33798543","c.556A>G(exon5)","p.K186E","rs200731425",{"$nulls":4},0.45,0.0012,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,16,0,"PRSS3",0.99,140,"非同义",12320,"0.2444=44/180","位于基因组多拷贝区域+DNA结构正常",5646,"9p11.2","NM_001197097"]
["32629A(745)v27106",50,50,1,"32629A","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,"纯合","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",249900,5,1,2,4,"PSAP",1,81,"非编码区",16202,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",5660,"10q21-q22","NM_001042465",null,"rs4747203|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v27146",100,100,1,"32629A","PSG4","chr19:43709656","c.33G>C(exon1)","p.Q11H","rs11883278",0.91,0.9,0.92,0.89,0.98,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PSG4",1,270,"非同义",12220,"1.0000=107/107","位于基因组多拷贝区域+DNA结构正常",5672,"19q13.2","NM_002780"]
["32629A(745)v27172",55,55,1,"32629A","PSMB1","chr6:170862300","c.31C>G(exon1)","p.P11A","rs12717",0.45,0.78,0.78,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PSMB1",1,140,"非同义",12220,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",5689,"6q27","NM_002793"]
["32629A(745)v27229",10,4,0.4,"32629A","PSORS1C1","chr6:31106500-31106501","c.111(exon5)_c.112(exon5)insC","p.P38Pfs*5",null,null,0.062,0.038,0.087,0.062,0.063,"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",{"$nulls":4},1,null,1,0,"PSORS1C1",null,null,"移码",2140,"0.4000=4/10","位于基因组单拷贝区域+简单重复结构",170679,"6p21.3","NM_014068"]
["32629A(745)v27234",84,24,0.2857,"32629A","PSPH","chr7:56087280","c.275+13C>G(exon5)","非编码区","rs200789478",{"$nulls":4},0.26,3.3E-3,"杂合","未知","内含子突变可能影响调控",null,"磷酸丝氨酸磷酸酶缺乏症",null,614023,4,2,17,1,"PSPH",1,130,"非编码区",16303,"0.2887=28/97","位于基因组多拷贝区域+DNA结构正常",5723,"7p11.2","NM_004577"]
["32629A(745)v27288",55,31,0.5636,"32629A","PTCHD3","chr10:27702624","c.556C>A(exon1)","p.Q186K","rs77473776",0.091,0.26,0.21,0.31,0.29,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"PTCHD3",1,110,"非同义",12220,"0.5667=34/60","位于基因组多拷贝区域+DNA结构正常",374308,"10p12.1","NM_001034842"]
["32629A(745)v27300",2,2,1,"32629A","PTEN","chr10:89623901","c.-326G>C(exon1)","非编码区","rs2943772",1,1,1,1,0.66,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"前列腺癌","AD",176807,5,1,1,11,"PTEN",1,200,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",5728,"10q23.3","NM_000314"]
["32629A(745)v27349",175,89,0.5086,"32629A","PTPN13","chr4:87690998","c.4581A>G(exon29)","p.I1527M","rs2230600",0.16,0.3,0.3,0.31,0.28,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19892796,{"$nulls":3},5,null,4,0,"PTPN13",1,180,"非同义",12220,"0.5077=99/195","位于基因组单拷贝区域+DNA结构正常",5783,"4q21.3","NM_080685","ILE1527MET|\"Squamous_cell_carcinoma_of_head_&_neck_association_with\"|19892796;rs2230600|\"Squamous_cell_carcinoma_of_head_&_neck_association_with\"|19892796"]
["32629A(745)v27397",54,21,0.3889,"32629A","PTPRE","chr10:129871747","c.1599+12C>T(exon17)","非编码区","rs2275802",0.2,0.28,0.29,0.27,null,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"PTPRE",1,110,"非编码区",16203,"0.3770=23/61","位于基因组单拷贝区域+DNA结构正常",5791,"10q26","NM_006504"]
["32629A(745)v27417",100,50,0.5,"32629A","PTPRH","chr19:55710021","c.1680T>C(exon8)","p.T560T","rs2288518",0.15,0.22,0.2,0.24,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PTPRH",1,110,"同义",13203,"0.5189=55/106","位于基因组单拷贝区域+DNA结构正常",5794,"19q13.4","NM_002842"]
["32629A(745)v27474",10,10,1,"32629A","PTX4","chr16:1537839","c.259C>T(exon2)","p.R87W","rs2745101",0.27,0.52,0.5,0.54,0.49,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PTX4",1,44,"非同义",12210,"1.0000=11/11","位于基因组单拷贝区域+DNA结构正常",390667,"16p13.3","NM_001013658"]
["32629A(745)v27485",53,53,1,"32629A","PUS3","chr11:125766204","c.-25C>G(exon2)","非编码区","rs600761",0.8,0.89,0.9,0.88,0.88,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PUS3",1,92,"非编码区",14200,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",83480,"11q24.2","NM_031307"]
["32629A(745)v27548",85,85,1,"32629A","PYHIN1","chr1:158946629-158946630","c.*144(exon9)_c.*145(exon9)insATATATGTAT","非编码区","rs145608153",{"$nulls":4},0.0031,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"PYHIN1",1,220,"非编码区",2430,"1.0000=103/103","位于基因组单拷贝区域+DNA结构正常",149628,"1q23.1","NM_152501"]
["32629A(745)v27605",279,134,0.4803,"32629A","R3HDM1","chr2:136393658","c.808A>G(exon11)","p.M270V","rs961360",0.31,0.46,0.44,0.48,0.48,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23028602,{"$nulls":3},5,null,4,0,"R3HDM1",1,170,"非同义",12220,"0.4778=151/316","位于基因组单拷贝区域+DNA结构正常",23518,"2q21.3","NM_015361"]
["32629A(745)v27624",48,23,0.4792,"32629A","RAB11FIP4","chr17:29844658","c.337-11C>G(exon4)","非编码区","rs3744619",0.51,0.54,0.52,0.55,0.57,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RAB11FIP4",0.96,75,"非编码区",16202,"0.4528=24/53","位于基因组单拷贝区域+DNA结构正常",84440,"17q11.2","NM_032932"]
["32629A(745)v27679",6,3,0.5,"32629A","RAB6B","chr3:133614517","c.-207G>T(exon1)","非编码区","rs9811568",0.44,0.28,0.3,0.26,0.32,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RAB6B",1,90,"非编码区",14200,"0.4286=3/7","位于基因组单拷贝区域+DNA结构正常",51560,"3q22.1","NM_016577"]
["32629A(745)v27693",7,7,1,"32629A","RABEP1","chr17:5286692","c.*174T>C(exon18)","非编码区","rs8703",0.68,0.96,0.97,0.96,0.94,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"RABEP1",1,180,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",9135,"17p13.2","NM_004703"]
["32629A(745)v27752",107,107,1,"32629A","RAET1E","chr6:150209717","c.601G>C(exon4)","p.V201L","rs2342767",0.55,0.89,0.91,0.87,0.88,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"RAET1E",0.99,96,"非同义",12220,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",135250,"6q25.1","NM_001243325"]
["32629A(745)v27801",31,18,0.5806,"32629A","RAP1GAP2","chr17:2929674","c.1896T>C(exon21)","p.R632R","rs12941934",0.58,0.64,0.63,0.65,0.63,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"RAP1GAP2",1,85,"同义",13203,"0.6061=20/33","位于基因组单拷贝区域+DNA结构正常",23108,"17p13.3","NM_015085"]
["32629A(745)v27827",19,11,0.5789,"32629A","RAPSN","chr11:47463484-47463484","c.691-11(exon4)delC","非编码区","rs34729771",0.61,0.64,0.66,0.63,0.25,0.66,"杂合","未知","内含子突变","CLINVAR数据库","先天性重症肌无力综合症伴乙酰胆碱受体缺乏","AR",608931,4,3,3,2,"RAPSN",1,45,"非编码区",2500,"0.6000=12/20","位于基因组单拷贝区域+DNA结构正常",5913,"11p11.2","NM_005055",null,"rs34729771|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v27871",32,13,0.4062,"32629A","RASGRP4","chr19:38905683","c.1035T>C(exon9)","p.G345G","rs10412098",0.34,0.22,0.25,0.18,0.22,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RASGRP4",1,60,"同义",13203,"0.4737=18/38","位于基因组单拷贝区域+DNA结构正常",115727,"19q13.1","NM_170604"]
["32629A(745)v27886",18,18,1,"32629A","RASSF5","chr1:206760474","c.*164T>C(exon6)","非编码区","rs7541244",0.78,0.75,0.71,0.8,0.75,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RASSF5",1,73,"非编码区",14200,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",83593,"1q32.1","NM_182663"]
["32629A(745)v27948",146,72,0.4932,"32629A","RBM28","chr7:127950938","c.2192A>G(exon19)","p.N731S",{"$nulls":5},0.00018,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"秃头症,神经功能缺陷和内分泌病综合征","AR",612079,3,3,2,1,"RBM28",1,100,"非同义",12420,"0.5030=85/169","位于基因组单拷贝区域+DNA结构正常",55131,"7q32.1","NM_018077"]
["32629A(745)v28002",109,45,0.4128,"32629A","RC3H1","chr1:173952539","c.592+17A>T(exon3)","非编码区","rs6686083",0.49,0.57,0.56,0.59,0.59,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RC3H1",1,140,"非编码区",16203,"0.4123=47/114","位于基因组单拷贝区域+DNA结构正常",149041,"1q25.1","NM_172071"]
["32629A(745)v28017",158,158,1,"32629A","RCN2","chr15:77241568","c.*5T>C(exon7)","非编码区","rs1711018",null,0.97,0.98,0.97,1,1,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"RCN2",1,160,"非编码区",14300,"1.0000=177/177","位于基因组单拷贝区域+DNA结构正常",5955,"15q23","NM_002902"]
["32629A(745)v28071",119,119,1,"32629A","REG3G","chr2:79254261","c.297T>C(exon4)","p.Y99Y","rs452267",0.86,0.91,0.94,0.87,0.9,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"REG3G",1,150,"同义",13203,"1.0000=133/133","位于基因组多拷贝区域+DNA结构正常",130120,"2p12","NM_001008387"]
["32629A(745)v28099",31,31,1,"32629A","RERE","chr1:8418650","c.3945A>G(exon21)","p.R1315R","rs1058766",0.8,0.93,0.9,0.95,0.9,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RERE",1,70,"同义",13203,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",473,"1p36.23","NM_012102"]
["32629A(745)v28116",18,18,1,"32629A","RET","chr10:43613843","c.2307G>T(exon13)","p.L769L","rs1800861",null,0.5,0.52,0.49,0.49,0.5,"纯合","未知","预测范围之外的同义突变","24033266;10528857;19138047;19379518;20532249","先天性中枢性肺换气不足综合征","AD",209880,4,1,7,7,"RET",1,72,"同义",13303,"1.0000=19/19","位于基因组单拷贝区域+DNA结构正常",5979,"10q11.2","NM_020975","rs1800861|\"Hirschsprung_disease_association_with\"|10528857","rs1800861|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266"]
["32629A(745)v28159",12,4,0.3333,"32629A","RFX1","chr19:14083761","c.1108A>G(exon9)","p.T370A","rs2305780",0.53,0.43,0.44,0.41,0.43,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RFX1",1,42,"非同义",12220,"0.3846=5/13","位于基因组单拷贝区域+DNA结构正常",5989,"19p13.1","NM_002918"]
["32629A(745)v28186",50,50,1,"32629A","RGL4","chr22:24038847","c.1133T>C(exon7)","p.V378A","rs1007298",0.77,0.67,0.66,0.68,0.68,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RGL4",1,77,"非同义",12220,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",266747,"22q11.23","NM_153615"]
["32629A(745)v28234",26,14,0.5385,"32629A","RGS19","chr20:62705140","c.*66T>G(exon6)","非编码区","rs6011280",0.37,0.26,0.25,0.26,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RGS19",1,43,"非编码区",14200,"0.5357=15/28","位于基因组单拷贝区域+DNA结构正常",10287,"20q13.33","NM_005873"]
["32629A(745)v28249",36,17,0.4722,"32629A","RHAG","chr6:49573302","c.*224G>A(exon10)","非编码区","rs1058066",0.1,0.026,0.024,0.029,0.034,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Rh缺陷综合征（Rh缺陷调控型贫血，溶血）","AR",268150,5,3,1,1,"RHAG",1,160,"非编码区",14200,"0.4500=18/40","位于基因组单拷贝区域+DNA结构正常",6005,"6p12.3","NM_000324"]
["32629A(745)v28300",129,129,1,"32629A","RICTOR","chr5:38950776","c.3174C>T(exon31)","p.S1058S","rs2115949",0.95,0.99,0.99,0.99,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RICTOR",1,200,"同义",13203,"1.0000=146/146","位于基因组单拷贝区域+DNA结构正常",253260,"5p13.1","NM_152756"]
["32629A(745)v28336",12,7,0.5833,"32629A","RIN3","chr14:93119407","c.2013C>T(exon6)","p.S671S","rs3818321",0.17,0.19,0.22,0.17,0.24,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RIN3",1,50,"同义",13203,"0.6154=8/13","位于基因组单拷贝区域+DNA结构正常",79890,"14q32.12","NM_024832"]
["32629A(745)v28373",23,9,0.3913,"32629A","RNASE12","chr14:21058337","c.*102G>A(exon1)","非编码区","rs4981259",0.39,0.33,0.33,0.33,0.34,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RNASE12",1,110,"非编码区",14200,"0.4167=10/24","位于基因组单拷贝区域+DNA结构正常",493901,"14q11.1","NM_001024822"]
["32629A(745)v28434",14,14,1,"32629A","RNF166","chr16:88772815","c.-82G>A(exon1)","非编码区","rs880233",0.34,0.75,0.74,0.76,0.7,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RNF166",1,47,"非编码区",14200,"1.0000=15/15","位于基因组单拷贝区域+DNA结构正常",115992,"16q24.3","NM_178841"]
["32629A(745)v28463",53,25,0.4717,"32629A","RNF20","chr9:104324545","c.2769G>A(exon20)","p.P923P","rs10521057",0.19,0.35,0.41,0.28,0.34,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RNF20",1,160,"同义",13203,"0.4909=27/55","位于基因组单拷贝区域+DNA结构正常",56254,"9q22","NM_019592"]
["32629A(745)v28505",50,21,0.42,"32629A","RNF44","chr5:175956516","c.1136+8C>T(exon9)","非编码区","rs2241585",0.49,0.45,0.47,0.44,0.44,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RNF44",1,42,"非编码区",16203,"0.4237=25/59","位于基因组单拷贝区域+DNA结构正常",22838,"5q35.2","NM_014901"]
["32629A(745)v28564",44,43,0.9773,"32629A","RP1L1","chr8:10467207","c.4401G>T(exon4)","p.R1467S","rs4840498",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"隐匿性黄斑营养不良","AD",613587,5,1,16,1,"RP1L1",1,79,"非同义",12220,"0.9778=44/45","位于基因组单拷贝区域+DNA结构正常",94137,"8p23.1","NM_178857"]
["32629A(745)v28579",3,3,1,"32629A","RPAIN","chr17:5323269","c.-262C>T(exon1)","非编码区","rs1058115",0.57,0.95,0.96,0.94,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"RPAIN",1,140,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",84268,"17p13.2","NM_001160243"]
["32629A(745)v28610",17,17,1,"32629A","RPL14","chr3:40503809","c.*86G>A(exon6)","非编码区","rs11539046",0.66,0.52,0.46,0.59,0.55,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RPL14",1,140,"非编码区",14200,"1.0000=19/19","位于基因组单拷贝区域+DNA结构正常",9045,"3p22-p21.2","NM_001034996"]
["32629A(745)v28685",23,10,0.4348,"32629A","RPS6KB1","chr17:58024275","c.*126A>G(exon15)","非编码区","rs180515",0.34,0.47,0.5,0.44,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",21833088,{"$nulls":3},5,null,3,0,"RPS6KB1",0.94,160,"非编码区",14200,"0.4615=12/26","位于基因组多拷贝区域+DNA结构正常",6198,"17q23.1","NM_003161"]
["32629A(745)v28700",42,16,0.381,"32629A","RPUSD2","chr15:40861965","c.429G>C(exon1)","p.R143R","rs34974852",0.006,0.038,0.038,0.039,0.03,0.033,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"RPUSD2",1,62,"同义",13103,"0.4000=18/45","位于基因组单拷贝区域+DNA结构正常",27079,"15q13.3","NM_152260"]
["32629A(745)v28759",77,33,0.4286,"32629A","RRP1","chr21:45220483","c.977A>G(exon10)","p.K326R","rs915770",0.26,0.26,0.23,0.29,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"RRP1",1,66,"非同义",12210,"0.4471=38/85","位于基因组单拷贝区域+DNA结构正常",8568,"21q22.3","NM_003683"]
["32629A(745)v28805",6,6,1,"32629A","RTBDN","chr19:12936881","c.*540C>T(exon7)","非编码区","rs4804736",0.12,0.11,0.1,0.11,0.12,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RTBDN",1,55,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",83546,"19p12","NM_001270440"]
["32629A(745)v28830",28,16,0.5714,"32629A","RTP1","chr3:186917751","c.685C>G(exon2)","p.Q229E","rs6764714",0.43,0.28,0.29,0.28,0.26,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"RTP1",1,72,"非同义",12220,"0.6129=19/31","位于基因组单拷贝区域+DNA结构正常",132112,"3q27.3","NM_153708"]
["32629A(745)v28883",54,54,1,"32629A","RYR1","chr19:38949904","c.2286C>T(exon19)","p.P762P","rs3745847",0.55,0.55,0.56,0.54,0.54,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;16917943","恶性高热易感1","AD",145600,5,1,11,3,"RYR1",0.99,61,"同义",13203,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",6261,"19q13.1","NM_000540",null,"rs3745847|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v28901",289,289,1,"32629A","RYR2","chr1:237890437","c.10776C>T(exon76)","p.S3592S","rs2685301",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"致心律失常性右室发育不良2","AD",600996,5,1,16,2,"RYR2",1,170,"同义",13203,"1.0000=342/342","位于基因组单拷贝区域+DNA结构正常",6262,"1q43","NM_001035",null,"rs2685301|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v28927",170,170,1,"32629A","S100A7","chr1:153431406","c.84G>C(exon2)","p.E28D","rs3014837",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18373864,{"$nulls":3},5,null,2,0,"S100A7",1,190,"非同义",12220,"1.0000=195/195","位于基因组多拷贝区域+DNA结构正常",6278,"1q21","NM_002963"]
["32629A(745)v28939",380,250,0.6579,"32629A","SAA2","chr11:18267471","c.216T>C(exon3)","p.A72A","rs1136766",{"$nulls":4},0.5,0.49,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"SAA2",1,130,"同义",13303,"0.6682=298/446","位于基因组多拷贝区域+DNA结构正常",6289,"11p15.1-p14","NM_001127380"]
["32629A(745)v28992",142,142,1,"32629A","SAMD9","chr7:92734451","c.960T>C(exon3)","p.Y320Y","rs6965201",0.52,0.54,0.55,0.52,0.51,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性肿瘤样钙沉着症","AR",610455,5,1,5,1,"SAMD9",1,110,"同义",13203,"1.0000=162/162","位于基因组单拷贝区域+DNA结构正常",54809,"7q21.2","NM_017654"]
["32629A(745)v29044",4,4,1,"32629A","SART3","chr12:108955106-108955107","c.-177(exon1)_c.-176(exon1)insA","非编码区","rs397952574",0.89,0.96,0.96,0.96,0.89,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SART3",1,100,"非编码区",2420,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",9733,"12q24.1","NM_014706"]
["32629A(745)v29067",152,65,0.4276,"32629A","SBNO1","chr12:123799938","c.3102G>A(exon22)","p.R1034R","rs61751327",0.089,0.28,0.22,0.33,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SBNO1",1,150,"同义",13203,"0.4241=67/158","位于基因组单拷贝区域+DNA结构正常",55206,"12q24.31","NM_001167856"]
["32629A(745)v29124",101,39,0.3861,"32629A","SCFD2","chr4:53740236","c.1963-8G>A(exon9)","非编码区","rs2306601",0.14,0.27,0.27,0.28,0.24,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SCFD2",1,120,"非编码区",16202,"0.3846=40/104","位于基因组单拷贝区域+DNA结构正常",152579,"4q12","NM_152540"]
["32629A(745)v29173",98,52,0.5306,"32629A","SCN10A","chr3:38798171","c.1284G>A(exon9)","p.E428E","rs62244070",0.21,0.39,0.4,0.39,0.42,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性阵发性疼痛综合征","AD",615551,5,1,14,1,"SCN10A",1,120,"同义",13203,"0.5278=57/108","位于基因组单拷贝区域+DNA结构正常",6336,"3p22.2","NM_006514"]
["32629A(745)v29185",112,112,1,"32629A","SCN1A","chr2:166903445","c.1212A>G(exon11)","p.V404V","rs7580482",0.71,0.88,0.9,0.87,0.89,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"家族性偏瘫性偏头痛3型","AD",609634,5,1,4,3,"SCN1A",1,210,"同义",13203,"1.0000=126/126","位于基因组多拷贝区域+DNA结构正常",6323,"2q24.3","NM_001202435",null,"rs7580482|Benign;Likely benign|OMIM:607208|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v29207",2,2,1,"32629A","SCN5A","chr3:38590849","c.*963C>T(exon28)","非编码区","rs4073796",0.49,0.57,0.57,0.56,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"病态窦房结综合征1型","AR",608567,5,1,6,8,"SCN5A",1,97,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",6331,"3p21","NM_198056"]
["32629A(745)v29209",4,3,0.75,"32629A","SCN5A","chr3:38591689","c.*123A>G(exon28)","非编码区","rs7429945",0.49,0.57,0.58,0.56,0.5,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性长Q-T间期综合征3型","AD",603830,5,1,6,8,"SCN5A",1,97,"非编码区",14200,"0.7500=3/4","位于基因组单拷贝区域+DNA结构正常",6331,"3p21","NM_198056"]
["32629A(745)v29223",86,52,0.6047,"32629A","SCN9A","chr2:167137119","c.2072-14C>T(exon14)","非编码区","rs6432893",0.55,0.3,0.27,0.33,0.32,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性直肠疼痛","AD",167400,5,1,12,5,"SCN9A",1,200,"非编码区",16202,"0.6022=56/93","位于基因组单拷贝区域+DNA结构正常",6335,"2q24","NM_002977",null,"rs6432893|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v29226",170,73,0.4294,"32629A","SCN9A","chr2:167144995","c.1266A>G(exon10)","p.E422E","rs13402180",0.35,0.24,0.22,0.26,0.26,0.32,"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",607208,5,1,12,5,"SCN9A",1,200,"同义",13203,"0.4293=85/198","位于基因组单拷贝区域+DNA结构正常",6335,"2q24","NM_002977",null,"rs13402180|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v29251",202,201,0.995,"32629A","SCPEP1","chr17:55065558-55065559","c.472-19(exon5)_c.472-18(exon5)insA","非编码区","rs11437466",0.83,0.84,0.83,0.86,0.88,0.82,"纯合","未知","内含子突变",{"$nulls":4},4,null,1,0,"SCPEP1",1,150,"非编码区",2500,"0.9958=237/238","位于基因组单拷贝区域+DNA结构正常",59342,"17q22","NM_021626"]
["32629A(745)v29305",258,116,0.4496,"32629A","SDCCAG8","chr1:243493907","c.1134A>T(exon10)","p.E378D","rs2275155",0.27,0.18,0.19,0.17,0.2,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Senior-Loken综合征(肾视网膜营养不良)7型",null,613615,5,2,3,2,"SDCCAG8",1,200,"非同义",12220,"0.4552=127/279","位于基因组单拷贝区域+DNA结构正常",10806,"1q43","NM_006642"]
["32629A(745)v29313",18,5,0.2778,"32629A","SDHD","chr11:111965721","c.*27T>C(exon4)","非编码区","rs200370142",{"$nulls":4},0.29,0.48,"杂合","未知","UTR突变可能影响蛋白翻译",null,"肠道类癌","AD",114900,3,1,2,5,"SDHD",1,72,"非编码区",14300,"0.3182=7/22","位于基因组多拷贝区域+DNA结构正常",6392,"11q23","NM_003002"]
["32629A(745)v29362",100,48,0.48,"32629A","SEC16A","chr9:139358059","c.4509-6C>T(exon11)","非编码区","rs11145753",0.14,0.16,0.16,0.16,0.17,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SEC16A",1,62,"非编码区",16202,"0.4706=56/119","位于基因组单拷贝区域+DNA结构正常",9919,"9q34.3","NM_014866"]
["32629A(745)v29381",200,200,1,"32629A","SEC23IP","chr10:121679013","c.1930A>G(exon11)","p.K644E","rs2475298",0.75,0.83,0.8,0.87,0.79,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16385451;16642439",{"$nulls":3},5,null,1,0,"SEC23IP",1,160,"非同义",12220,"1.0000=228/228","位于基因组单拷贝区域+DNA结构正常",11196,"10q25-q26","NM_007190"]
["32629A(745)v29439",70,41,0.5857,"32629A","SEMA5A","chr5:9154659","c.1422C>G(exon12)","p.G474G","rs1806151",0.27,0.25,0.25,0.24,0.26,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16685660,{"$nulls":3},5,null,4,0,"SEMA5A",1,120,"同义",13203,"0.5676=42/74","位于基因组单拷贝区域+DNA结构正常",9037,"5p15.2","NM_003966"]
["32629A(745)v29488",4,3,0.75,"32629A","SEPT7","chr7:35945184","c.*1281G>A(exon14)","非编码区","rs10255066",0.35,0.48,0.48,0.47,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SEPT7",0.96,250,"非编码区",14200,"0.8571=6/7","位于基因组多拷贝区域+DNA结构正常",989,"7p14.2","NM_001788"]
["32629A(745)v29507",70,38,0.5429,"32629A","SERGEF","chr11:18010137","c.844+7C>T(exon8)","非编码区","rs211125",0.039,0.11,0.11,0.1,0.14,0.16,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,2,0,"SERGEF",1,130,"非编码区",16103,"0.5256=41/78","位于基因组单拷贝区域+DNA结构正常",26297,"11p14.3","NM_012139"]
["32629A(745)v29561",77,77,1,"32629A","SERPINB5","chr18:61160287","c.526T>C(exon5)","p.S176P","rs2289519",0.72,0.58,0.63,0.53,0.53,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18698492,{"$nulls":3},5,null,6,0,"SERPINB5",1,130,"非同义",12220,"1.0000=77/77","位于基因组单拷贝区域+DNA结构正常",5268,"18q21.3","NM_002639","rs2289519|\"Decreased_apoptosis_and_increased_colony_formation_in_vitro\"|18698492"]
["32629A(745)v29586",163,163,1,"32629A","SESTD1","chr2:180047908","c.63A>G(exon3)","p.K21K","rs6757681",0.86,0.92,0.92,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SESTD1",1,180,"同义",13203,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",91404,"2q31.2","NM_178123"]
["32629A(745)v29626",121,61,0.5041,"32629A","SETX","chr9:135173685","c.5563A>G(exon13)","p.T1855A","rs2296871",0.44,0.64,0.66,0.63,0.7,0.7,"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",1,120,"非同义",12220,"0.4885=64/131","位于基因组单拷贝区域+DNA结构正常",23064,"9q34.13","NM_015046",null,"THR1855ALA|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v29677",10,6,0.6,"32629A","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",614743,5,1,3,1,"SFTPA1",1,150,"非编码区",14200,"0.6000=6/10","位于基因组多拷贝区域+DNA结构正常",653509,"10q22.3","NM_005411"]
["32629A(745)v29700",55,55,1,"32629A","SGCG","chr13:23898509","c.705T>C(exon8)","p.L235L","rs1800353",0.63,0.76,0.75,0.77,0.78,0.77,"纯合","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2C型","AR",253700,5,1,3,1,"SGCG",1,180,"同义",13202,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",6445,"13q12","NM_000231",null,"rs1800353|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202"]
["32629A(745)v29747",106,46,0.434,"32629A","SH2D4A","chr8:19192192","c.342-5T>C(exon4)","非编码区","rs17128221",0.3,0.21,0.23,0.2,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"SH2D4A",0.97,140,"非编码区",16202,"0.4118=49/119","位于基因组单拷贝区域+DNA结构正常",63898,"8p21.2","NM_022071"]
["32629A(745)v29804",62,29,0.4677,"32629A","SH3RF2","chr5:145442133","c.2059G>A(exon10)","p.V687I","rs11435",0.17,0.32,0.37,0.27,0.28,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SH3RF2",1,95,"非同义",12220,"0.4789=34/71","位于基因组单拷贝区域+DNA结构正常",153769,"5q32","NM_152550"]
["32629A(745)v29821",118,51,0.4322,"32629A","SH3TC2","chr5:148386525","c.3594A>C(exon16)","p.P1198P","rs6871030",0.38,0.23,0.22,0.23,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","恰克-马利-杜斯氏症4C型","AR",601596,5,3,6,2,"SH3TC2",1,94,"同义",13203,"0.4122=54/131","位于基因组单拷贝区域+DNA结构正常",79628,"5q32","NM_024577",null,"rs6871030|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v29848",20,20,1,"32629A","SHCBP1","chr16:46655210","c.62T>C(exon1)","p.M21T","rs6598679",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SHCBP1",1,110,"非同义",12230,"1.0000=21/21","位于基因组单拷贝区域+DNA结构正常",79801,"16q11.2","NM_024745"]
["32629A(745)v29890",80,34,0.425,"32629A","SIAE","chr11:124506967","c.1347G>A(exon12)","p.T449T","rs7941327",0.15,0.11,0.11,0.11,0.12,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"自身免疫病易感6型",null,613551,5,2,6,1,"SIAE",1,130,"同义",13203,"0.4615=42/91","位于基因组单拷贝区域+DNA结构正常",54414,"11q24","NM_001199922"]
["32629A(745)v29947",132,132,1,"32629A","SIGLEC7","chr19:51656454","c.1356A>T(exon7)","p.G452G","rs273662",0.72,0.56,0.56,0.56,0.64,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SIGLEC7",1,140,"同义",13203,"1.0000=145/145","位于基因组单拷贝区域+DNA结构正常",27036,"19q13.3","NM_014385"]
["32629A(745)v29977",75,38,0.5067,"32629A","SIPA1L2","chr1:232650750","c.336T>C(exon1)","p.S112S","rs3795366",0.84,0.48,0.49,0.48,0.45,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SIPA1L2",1,94,"同义",13203,"0.4815=39/81","位于基因组单拷贝区域+DNA结构正常",57568,"1q42.2","NM_020808"]
["32629A(745)v30020",165,165,1,"32629A","SKA1","chr18:47908556","c.271G>A(exon4)","p.V91I","rs6507992",0.8,0.87,0.89,0.86,0.91,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SKA1",1,240,"非同义",12220,"1.0000=193/193","位于基因组单拷贝区域+DNA结构正常",220134,"18q21.1","NM_001039535"]
["32629A(745)v30075",79,79,1,"32629A","SLC12A7","chr5:1081767","c.1222G>A(exon9)","p.A408T","rs4526148",0.53,0.67,0.66,0.67,0.68,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SLC12A7",1,58,"非同义",12220,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",10723,"5p15","NM_006598"]
["32629A(745)v30090",72,39,0.5417,"32629A","SLC13A3","chr20:45204266","c.1137C>T(exon11)","p.P379P","rs1880898",0.55,0.57,0.52,0.61,0.59,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC13A3",1,100,"同义",13203,"0.5802=47/81","位于基因组单拷贝区域+DNA结构正常",64849,"20q13.12","NM_001011554"]
["32629A(745)v30164",106,50,0.4717,"32629A","SLC1A1","chr9:4576680","c.1110T>C(exon10)","p.T370T","rs301430",0.46,0.62,0.62,0.63,0.63,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16818867;17894418;19349310;19360657;20155310","二羧基氨基酸尿症","AR",222730,5,3,2,2,"SLC1A1",1,120,"同义",13203,"0.4917=59/120","位于基因组单拷贝区域+DNA结构正常",6505,"9p24","NM_004170"]
["32629A(745)v30199",87,38,0.4368,"32629A","SLC22A16","chr6:110778128","c.146A>G(exon2)","p.H49R","rs714368",0.31,0.45,0.42,0.49,0.42,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24944790,{"$nulls":3},5,null,6,0,"SLC22A16",1,130,"非同义",12220,"0.4574=43/94","位于基因组单拷贝区域+DNA结构正常",85413,"6q22.1|6q21-q22.1","NM_033125"]
["32629A(745)v30212",31,31,1,"32629A","SLC22A20","chr11:64981522","c.179C>A(exon1)","p.A60D","rs11605576",0.29,0.24,0.21,0.27,0.27,0.31,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SLC22A20",0.84,40,"非同义",12220,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",440044,"11q13.1","NM_001004326"]
["32629A(745)v30244",60,32,0.5333,"32629A","SLC22A5","chr5:131721204","c.824+13T>C(exon4)","非编码区","rs274557",0.49,0.61,0.64,0.58,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;18682823;18768181","原发性肉碱缺乏症（脂肪酸β-氧化）","AR",212140,5,3,12,1,"SLC22A5",1,81,"非编码区",16203,"0.5469=35/64","位于基因组单拷贝区域+DNA结构正常",6584,"5q23.3","NM_003060",null,"rs274557|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202"]
["32629A(745)v30276",40,22,0.55,"32629A","SLC25A10","chr17:79682558","c.264T>C(exon3)","p.R88R","rs2072700",0.43,0.33,0.33,0.33,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SLC25A10",0.93,30,"同义",13203,"0.5366=22/41","位于基因组单拷贝区域+DNA结构正常",1468,"17q25.3","NM_001270888"]
["32629A(745)v30332",18,5,0.2778,"32629A","SLC25A47","chr14:100795338","c.603G>C(exon5)","p.A201A","rs8015259",0.29,0.21,0.21,0.2,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC25A47",1,40,"同义",13203,"0.2778=5/18","位于基因组单拷贝区域+DNA结构正常",283600,"14q32.2","NM_207117"]
["32629A(745)v30384",6,6,1,"32629A","SLC27A6","chr5:128301586","c.-245T>C(exon1)","非编码区","rs2526245",0.21,0.06,0.057,0.063,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"SLC27A6",1,160,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",28965,"5q23.3","NM_001017372"]
["32629A(745)v30421",63,31,0.4921,"32629A","SLC2A2","chr3:170715711","c.1556G>A(exon11)","p.G519E","rs147959014",0.0046,0.031,0.019,0.044,0.027,0.024,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"范科尼型糖原贮积病(Fanconi-Bickel综合征)","AR",227810,2,3,1,1,"SLC2A2",1,150,"非同义",12110,"0.4714=33/70","位于基因组单拷贝区域+DNA结构正常",6514,"3q26.1-q26.2","NM_000340"]
["32629A(745)v30456",21,10,0.4762,"32629A","SLC30A8","chr8:118185063","c.*143C>G(exon11)","非编码区","rs2466294",0.52,0.84,0.84,0.83,0.82,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,7,1,"SLC30A8",1,110,"非编码区",14200,"0.4583=11/24","位于基因组单拷贝区域+DNA结构正常",169026,"8q24.11","NM_001172813"]
["32629A(745)v30506",103,48,0.466,"32629A","SLC35G4","chr18:11610121","c.527G>A(exon1)","p.G176E","rs73943948",0.22,0.16,0.15,0.18,null,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"SLC35G4",null,null,"非同义",12220,"0.4530=53/117","位于基因组多拷贝区域+DNA结构正常",646000,"18p11.21","XM_928960"]
["32629A(745)v30525",74,28,0.3784,"32629A","SLC35G6","chr17:7385454","c.151G>A(exon2)","p.A51T","rs3760422",0.19,0.2,0.18,0.22,0.19,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SLC35G6",1,140,"非同义",12220,"0.3544=28/79","位于基因组多拷贝区域+DNA结构正常",643664,"17p13.1","NM_001102614"]
["32629A(745)v30569",2,2,1,"32629A","SLC39A13","chr11:47437288-47437289","c.*374(exon10)_c.*375(exon10)insC","非编码区","rs397696692",0.94,1,1,1,0.091,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Ehlers-Danlos样综合征","AR",612350,5,1,4,1,"SLC39A13",1,47,"非编码区",2420,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",91252,"11p11.2","NM_152264"]
["32629A(745)v30591",40,18,0.45,"32629A","SLC39A8","chr4:103184089","c.*112T>C(exon9)","非编码区","rs151393",0.68,0.53,0.55,0.51,0.55,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"SLC39A8",1,160,"非编码区",14200,"0.4524=19/42","位于基因组单拷贝区域+DNA结构正常",64116,"4q22-q24","NM_001135146"]
["32629A(745)v30651",18,7,0.3889,"32629A","SLC47A2","chr17:19619998","c.-130C>T(exon1)","非编码区","rs12943590",0.32,0.47,0.5,0.44,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","21956618;23267855",{"$nulls":3},5,null,4,0,"SLC47A2",1,92,"非编码区",14200,"0.4545=10/22","位于基因组单拷贝区域+DNA结构正常",146802,"17p11.2","NM_152908","rs12943590|\"Increased_promoter_activity\"|21956618"]
["32629A(745)v30679",52,24,0.4615,"32629A","SLC4A8","chr12:51851126","c.575-9G>A(exon6)","非编码区","rs4512904",0.52,0.46,0.48,0.45,0.44,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SLC4A8",0.96,130,"非编码区",16201,"0.4407=26/59","位于基因组单拷贝区域+DNA结构正常",9498,"12q13.13","NM_001039960"]
["32629A(745)v30705",67,67,1,"32629A","SLC5A12","chr11:26692733","c.1773A>G(exon15)","p.R591R","rs7114378",0.32,0.44,0.5,0.39,0.46,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"SLC5A12",1,170,"同义",13203,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",159963,"11p14.2","NM_178498"]
["32629A(745)v30758",72,38,0.5278,"32629A","SLC6A3","chr5:1394815","c.*35T>C(exon15)","非编码区","rs1042098",0.3,0.11,0.13,0.087,0.083,0.092,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16537431;19693267;19739106","烟草成瘾易感",null,188890,5,2,4,2,"SLC6A3",1,89,"非编码区",14200,"0.5000=42/84","位于基因组单拷贝区域+DNA结构正常",6531,"5p15.3","NM_001044"]
["32629A(745)v30770",16,10,0.625,"32629A","SLC6A7","chr5:149583336","c.1194T>C(exon9)","p.D398D","rs2240794",0.79,0.67,0.7,0.65,0.63,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SLC6A7",1,59,"同义",13203,"0.6250=10/16","位于基因组单拷贝区域+DNA结构正常",6534,"5q32","NM_014228"]
["32629A(745)v30825",62,26,0.4194,"32629A","SLC9A4","chr2:103149162","c.*15A>G(exon12)","非编码区","rs2008159",0.62,0.5,0.52,0.47,0.47,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SLC9A4",1,130,"非编码区",14200,"0.4179=28/67","位于基因组单拷贝区域+DNA结构正常",389015,"2q12.1","NM_001011552"]
["32629A(745)v30887",99,99,1,"32629A","SLCO4C1","chr5:101592809","c.1469+10A>T(exon8)","非编码区","rs261101",0.76,0.68,0.68,0.68,0.68,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLCO4C1",1,190,"非编码区",16203,"1.0000=110/110","位于基因组单拷贝区域+DNA结构正常",353189,"5q21.2","NM_180991"]
["32629A(745)v30906",78,53,0.6795,"32629A","SLFN13","chr17:33768383","c.1925A>T(exon6)","p.D642V","rs11657183",0.16,0.096,0.086,0.11,0.11,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"SLFN13",1,130,"非同义",12220,"0.6782=59/87","位于基因组多拷贝区域+DNA结构正常",146857,"17q12","NM_144682"]
["32629A(745)v30954",55,29,0.5273,"32629A","SMAD7","chr18:46448129","c.894C>T(exon4)","p.L298L","rs3809922",0.037,0.12,0.13,0.12,0.16,0.15,"杂合","未知","预测范围之外的同义突变",null,"结肠癌,易感3型",null,612229,4,2,2,1,"SMAD7",1,66,"同义",13103,"0.5397=34/63","位于基因组单拷贝区域+DNA结构正常",4092,"18q21.1","NM_005904"]
["32629A(745)v30975",18,12,0.6667,"32629A","SMC1B","chr22:45740224","c.*213C>T(exon25)","非编码区","rs3747240",0.86,0.85,0.83,0.87,0.77,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SMC1B",1,140,"非编码区",14200,"0.6667=12/18","位于基因组单拷贝区域+DNA结构正常",27127,"22q13.31","NM_148674"]
["32629A(745)v31034",63,63,1,"32629A","SMPD3","chr16:68398924","c.1395G>A(exon4)","p.P465P","rs1868158",0.63,0.8,0.8,0.8,0.79,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SMPD3",1,50,"同义",13203,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",55512,"16q22.1","NM_018667"]
["32629A(745)v31091",160,67,0.4188,"32629A","SNAPC4","chr9:139279173","c.1419C>T(exon13)","p.V473V","rs10781510",0.37,0.29,0.31,0.27,0.3,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"SNAPC4",1,43,"同义",13202,"0.4253=74/174","位于基因组单拷贝区域+DNA结构正常",6621,"9q34.3","NM_003086"]
["32629A(745)v31110",22,8,0.3636,"32629A","SNRNP200","chr2:96971256","c.-81C>T(exon1)","非编码区","rs117673613",0.014,0.084,0.09,0.078,0.068,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"视网膜色素变性33型-AD",null,610359,3,2,2,1,"SNRNP200",1,86,"非编码区",14100,"0.3913=9/23","位于基因组单拷贝区域+DNA结构正常",23020,"2q11.2","NM_014014"]
["32629A(745)v31166",55,27,0.4909,"32629A","SNX19","chr11:130784616","c.1219A>G(exon1)","p.S407G","rs3190345",0.13,0.15,0.17,0.13,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"SNX19",1,98,"非同义",12220,"0.5085=30/59","位于基因组多拷贝区域+DNA结构正常",399979,"11q25","NM_014758"]
["32629A(745)v31181",23,23,1,"32629A","SNX29","chr16:12136954","c.428+20A>C(exon5)","非编码区","rs1703492",null,0.51,0.55,0.48,0.51,0.51,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"SNX29",1,140,"非编码区",16303,"1.0000=25/25","位于基因组多拷贝区域+DNA结构正常",92017,"16p13.13-p13.12","NM_032167"]
["32629A(745)v31235",40,21,0.525,"32629A","SOGA3","chr6:127768762","c.*1023C>T(exon11)","非编码区","rs6902288",0.41,0.077,0.067,0.087,0.082,0.073,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SOGA3",1,58,"非编码区",14200,"0.5333=24/45","位于基因组单拷贝区域+DNA结构正常",387104,"6q22.33","NM_001012279"]
["32629A(745)v31298",16,16,1,"32629A","SOWAHA","chr5:132150948","c.1635T>G(exon1)","p.F545L","rs40470",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SOWAHA",0.95,20,"非同义",12220,"1.0000=18/18","位于基因组单拷贝区域+DNA结构正常",134548,"5q31.1","NM_175873"]
["32629A(745)v31311",23,23,1,"32629A","SOX8","chr16:1034834","c.789T>C(exon3)","p.N263N","rs237674",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SOX8",1,24,"同义",13203,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",30812,"16p13.3","NM_014587"]
["32629A(745)v31367",120,51,0.425,"32629A","SPAG8","chr9:35810245","c.1262C>T(exon6)","p.P421L","rs61758536",0.012,0.058,0.048,0.068,0.067,0.055,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,3,0,"SPAG8",1,93,"非同义",12110,"0.4357=61/140","位于基因组单拷贝区域+DNA结构正常",26206,"9p13.3","NM_172312"]
["32629A(745)v31388",2,2,1,"32629A","SPAST","chr2:32381108-32381109","c.*1543(exon17)_c.*1544(exon17)insT","非编码区","rs751815134",{"$nulls":6},"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"遗传性痉挛性截瘫4型","AD",182601,3,1,2,1,"SPAST",1,17,"非编码区",2430,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",6683,"2p24-p21","NM_014946"]
["32629A(745)v31438",158,158,1,"32629A","SPATA4","chr4:177113836","c.630G>A(exon4)","p.A210A","rs6832177",0.28,0.27,0.27,0.26,0.3,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SPATA4",1,170,"同义",13203,"1.0000=179/179","位于基因组单拷贝区域+DNA结构正常",132851,"4q34.2","NM_144644"]
["32629A(745)v31499",3,3,1,"32629A","SPG20","chr13:36920918","c.-202G>C(exon1)","非编码区","rs9531842",0.29,0.55,0.56,0.54,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性痉挛性截瘫20型","AR",275900,5,1,3,1,"SPG20",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",23111,"13q13.3","NM_001142295"]
["32629A(745)v31514",128,59,0.4609,"32629A","SPICE1","chr3:113176122","c.1518C>T(exon13)","p.P506P","rs7637618",0.33,0.29,0.29,0.3,0.24,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SPICE1",1,150,"同义",13203,"0.4748=66/139","位于基因组单拷贝区域+DNA结构正常",152185,"3q13.2","NM_144718"]
["32629A(745)v31565",169,169,1,"32629A","SPON1","chr11:14101493-14101494","c.601(exon5)_c.602(exon5)insC","p.A201Afs*608","rs5789820",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SPON1",1,100,"移码",2120,"1.0000=185/185","位于基因组单拷贝区域+DNA结构正常",10418,"11p15.2","NM_006108"]
["32629A(745)v31569",19,19,1,"32629A","SPON2","chr4:1165741","c.119T>C(exon4)","p.L40P","rs922697",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SPON2",1,42,"非同义",12230,"1.0000=21/21","位于基因组单拷贝区域+DNA结构正常",10417,"4p16.3","NM_001199021"]
["32629A(745)v31626",3,3,1,"32629A","SPRY4","chr5:141693593","c.*181G>A(exon3)","非编码区","rs10040443",0.71,0.93,0.93,0.93,0.83,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"促性腺激素分泌不足的性腺功能低下症,伴或不伴嗅觉缺失17型","AD",615266,5,1,1,1,"SPRY4",1,38,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",81848,"5q31.3","NM_030964"]
["32629A(745)v31640",247,247,1,"32629A","SPTA1","chr1:158587858","c.6531-12C>T(exon46)","非编码区","rs28525570",0.23,0.21,0.18,0.25,0.19,0.19,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",10192450,"遗传性畸形细胞增多症/遗传性嗜派洛宁异形红细胞症","AR",266140,5,1,18,3,"SPTA1",1,110,"非编码区",16202,"1.0000=288/288","位于基因组单拷贝区域+DNA结构正常",6708,"1q21","NM_003126","rs28525570|\"Reduced_expression\"|10192450"]
["32629A(745)v31661",27,27,1,"32629A","SPTBN5","chr15:42147639","c.9114-13T>G(exon55)","非编码区","rs2305655",0.62,0.84,0.83,0.84,0.81,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"SPTBN5",1,38,"非编码区",16202,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",51332,"15q21","NM_016642"]
["32629A(745)v31721",32,16,0.5,"32629A","SREBF2","chr22:42276742","c.1784G>C(exon10)","p.G595A","rs2228314",0.41,0.18,0.17,0.19,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12119189;19116028;19740467;20111910;24496149",{"$nulls":3},5,null,3,0,"SREBF2",1,69,"非同义",12220,"0.5135=19/37","位于基因组单拷贝区域+DNA结构正常",6721,"22q13","NM_004599","GLY595ALA|\"Increased_plasma_total_cholesterol_levels_association_with\"|12119189"]
["32629A(745)v31736",84,45,0.5357,"32629A","SRGAP3","chr3:9036010","c.2408+17A>C(exon19)","非编码区","rs637172",0.58,0.4,0.4,0.41,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SRGAP3",1,93,"非编码区",16203,"0.5333=48/90","位于基因组单拷贝区域+DNA结构正常",9901,"3p25.3","NM_014850"]
["32629A(745)v31812",85,36,0.4235,"32629A","SSC5D","chr19:56012381","c.2618-20T>C(exon12)","非编码区","rs11084400",0.23,0.41,0.41,0.41,0.37,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SSC5D",1,72,"非编码区",16202,"0.4257=43/101","位于基因组单拷贝区域+DNA结构正常",284297,"19q13.42","NM_001144950"]
["32629A(745)v31852",41,17,0.4146,"32629A","SSTR4","chr20:23017082","c.962T>C(exon1)","p.F321S","rs2567608",0.52,0.61,0.58,0.63,0.57,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20085586;25469008",{"$nulls":3},5,null,4,0,"SSTR4",1,41,"非同义",12220,"0.4186=18/43","位于基因组单拷贝区域+DNA结构正常",6754,"20p11.2","NM_001052"]
["32629A(745)v31867",43,43,1,"32629A","ST14","chr11:130064647","c.1113+15G>A(exon9)","非编码区","rs597661",0.83,0.95,0.96,0.95,0.94,0.95,"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11型","AR",602400,5,1,3,1,"ST14",1,59,"非编码区",16203,"1.0000=49/49","位于基因组单拷贝区域+DNA结构正常",6768,"11q24-q25","NM_021978"]
["32629A(745)v31939",99,48,0.4848,"32629A","STAT1","chr2:191841759","c.1874-8C>T(exon22)","非编码区","rs2066804",0.23,0.46,0.45,0.48,0.46,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17327408;18633131;18803832;19066394;19423540","STAT1缺陷原发性免疫缺陷病，分枝杆菌和病毒感染易感","AR",613796,5,3,2,3,"STAT1",1,150,"非编码区",16202,"0.5000=54/108","位于基因组单拷贝区域+DNA结构正常",6772,"2q32.2","NM_007315"]
["32629A(745)v31974",62,29,0.4677,"32629A","STK11","chr19:1220473","c.566C>T(exon4)","p.T189I","rs587781515",{"$nulls":4},0.00017,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",24307375,"黑斑息肉综合征","AD",175200,2,1,2,3,"STK11",1,62,"非同义",12310,"0.4583=33/72","位于基因组单拷贝区域+DNA结构正常",6794,"19p13.3","NM_000455","THR189ILE|\"Peutz-Jeghers_syndrome\"|24307375","THR189ILE|Uncertain significance|OMIM:175200|NA|criteria provided, multiple submitters, no conflicts|NA"]
["32629A(745)v31985",61,27,0.4426,"32629A","STK24","chr13:99115927","c.929+18T>C(exon7)","非编码区","rs2296149",0.74,0.67,0.66,0.68,0.73,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"STK24",1,120,"非编码区",16203,"0.4462=29/65","位于基因组单拷贝区域+DNA结构正常",8428,"13q31.2-q32.3","NM_001032296"]
["32629A(745)v32046",126,67,0.5317,"32629A","STPG1","chr1:24706292","c.37A>G(exon6)","p.I13V","rs1142057",0.37,0.43,0.41,0.44,0.47,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"STPG1",1,130,"非同义",12220,"0.5517=80/145","位于基因组单拷贝区域+DNA结构正常",90529,"1p36.11","NM_001199014"]
["32629A(745)v32083",25,11,0.44,"32629A","STXBP6","chr14:25281698","c.*217A>G(exon6)","非编码区","rs9319",0.21,0.15,0.13,0.17,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"STXBP6",1,140,"非编码区",14200,"0.4516=14/31","位于基因组单拷贝区域+DNA结构正常",29091,"14q12","NM_014178"]
["32629A(745)v32109",85,42,0.4941,"32629A","SULF2","chr20:46365571","c.291T>C(exon3)","p.T97T","rs3810526",0.66,0.68,0.67,0.69,0.66,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SULF2",1,83,"同义",13203,"0.4889=44/90","位于基因组单拷贝区域+DNA结构正常",55959,"20q12-q13.2","NM_001161841"]
["32629A(745)v32170",19,16,0.8421,"32629A","SVEP1","chr9:113128562-113128569","c.*250(exon48)_c.*257(exon48)delCTACCCTC","非编码区","rs3831123",0.16,0.36,0.4,0.33,0.018,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"SVEP1",1,120,"非编码区",2420,"0.8636=19/22","位于基因组单拷贝区域+DNA结构正常",79987,"9q32","NM_153366"]
["32629A(745)v32204",223,98,0.4395,"32629A","SWT1","chr1:185135745","c.126A>G(exon3)","p.S42S","rs950327",0.35,0.18,0.2,0.16,0.23,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"SWT1",1,200,"同义",13203,"0.4563=115/252","位于基因组单拷贝区域+DNA结构正常",54823,"1q25","NM_017673"]
["32629A(745)v32241",125,125,1,"32629A","SYDE2","chr1:85624549","c.3469G>A(exon7)","p.V1157I","rs709786",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"SYDE2",0.97,110,"非同义",12220,"1.0000=140/140","位于基因组单拷贝区域+DNA结构正常",84144,"1p22.3","NM_032184"]
["32629A(745)v32260",48,48,1,"32629A","SYNC","chr1:33161212","c.487A>G(exon2)","p.M163V","rs360041",0.86,0.87,0.86,0.88,0.83,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SYNC",1,65,"非同义",12230,"1.0000=53/53","位于基因组单拷贝区域+DNA结构正常",81493,"1p35.1","NM_030786"]
["32629A(745)v32293",147,78,0.5306,"32629A","SYNE2","chr14:64494278","c.6481C>T(exon43)","p.L2161L","rs10151127",0.75,0.87,0.87,0.87,0.87,0.84,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18414213,"Emery-Dreifuss型肌营养不良5型","AD",612999,5,1,16,1,"SYNE2",1,160,"同义",13203,"0.5212=86/165","位于基因组单拷贝区域+DNA结构正常",23224,"14q23.2","NM_182914",null,"rs10151127|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:18414213"]
["32629A(745)v32336",39,39,1,"32629A","SYNM","chr15:99671760","c.3195T>C(exon4)","p.F1065F","rs260087",0.77,0.73,0.72,0.73,0.72,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SYNM",0.98,80,"同义",13203,"1.0000=42/42","位于基因组单拷贝区域+DNA结构正常",23336,"15q26.3","NM_145728"]
["32629A(745)v32368",45,23,0.5111,"32629A","SYT5","chr19:55686380","c.709-13C>T(exon7)","非编码区","rs12459917",0.15,0.22,0.2,0.24,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SYT5",1,57,"非编码区",16202,"0.5000=25/50","位于基因组单拷贝区域+DNA结构正常",6861,"19q|11p","NM_003180"]
["32629A(745)v32425",15,15,1,"32629A","TACR2","chr10:71168685","c.734T>A(exon3)","p.M245K","rs55953810",1,1,1,1,0.84,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TACR2",1,72,"非同义",12220,"1.0000=15/15","位于基因组单拷贝区域+DNA结构正常",6865,"10q22.1","NM_001057"]
["32629A(745)v32444",38,38,1,"32629A","TAF1C","chr16:84211483","c.*1064G>A(exon14)","非编码区","rs8692",0.5,0.55,0.48,0.62,0.56,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"TAF1C",1,45,"非编码区",14200,"1.0000=41/41","位于基因组单拷贝区域+DNA结构正常",9013,"16q24","NM_005679"]
["32629A(745)v32496",55,19,0.3455,"32629A","TANC1","chr2:160035552","c.2388C>T(exon14)","p.D796D","rs62171128",0.042,0.075,0.09,0.058,0.04,0.044,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"TANC1",1,110,"同义",13103,"0.2969=19/64","位于基因组单拷贝区域+DNA结构正常",85461,"2q24.2","NM_033394"]
["32629A(745)v32561",157,157,1,"32629A","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,{"$nulls":3},5,null,19,0,"TAS2R19",1,200,"同义",13203,"1.0000=175/175","位于基因组多拷贝区域+DNA结构正常",259294,"12p13.2","NM_176888"]
["32629A(745)v32576",245,242,0.9878,"32629A","TAS2R31","chr12:11183255","c.680C>T(exon1)","p.A227V","rs10845293",0.35,0.21,0.22,0.2,0.22,0.21,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23599216;19092995",{"$nulls":3},5,null,20,0,"TAS2R31",1,320,"非同义",12210,"0.9854=270/274","位于基因组多拷贝区域+DNA结构正常",259290,"12p13.2","NM_176885","ALA227VAL|\"Bitter_taste_sensitivity_association_with\"|23599216"]
["32629A(745)v32625",4,3,0.75,"32629A","TAS2R43","chr12:11244323","c.506A>G(exon1)","p.K169R","rs201365712",{"$nulls":4},0.089,0.0044,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,57,0,"TAS2R43",1,33,"非同义",12320,"0.8000=4/5","位于基因组多拷贝区域+DNA结构正常",259289,"12p13.2","NM_176884"]
["32629A(745)v32651",34,34,1,"32629A","TAS2R43","chr12:11244814","c.15A>G(exon1)","p.L5L","rs377076131",{"$nulls":4},0.35,0.0031,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,57,0,"TAS2R43",1,33,"同义",13303,"1.0000=37/37","位于基因组多拷贝区域+DNA结构正常",259289,"12p13.2","NM_176884"]
["32629A(745)v32708",8,6,0.75,"32629A","TBC1D1","chr4:38139125","c.*169A>G(exon20)","非编码区","rs12644032",0.057,0.12,0.095,0.14,0.12,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"TBC1D1",1,69,"非编码区",14200,"0.7500=6/8","位于基因组单拷贝区域+DNA结构正常",23216,"4p14","NM_015173"]
["32629A(745)v32761",94,56,0.5957,"32629A","TBCEL","chr11:120929197","c.839+17G>A(exon6)","非编码区","rs3758891",0.22,0.32,0.32,0.32,0.33,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TBCEL",1,160,"非编码区",16203,"0.5960=59/99","位于基因组单拷贝区域+DNA结构正常",219899,"11q23.3","NM_152715"]
["32629A(745)v32775",18,7,0.3889,"32629A","TBRG4","chr7:45139892","c.*32C>T(exon11)","非编码区","rs4553",0.4,0.18,0.15,0.2,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TBRG4",1,56,"非编码区",14200,"0.4000=8/20","位于基因组单拷贝区域+DNA结构正常",9238,"7p13","NM_004749"]
["32629A(745)v32812",38,19,0.5,"32629A","TCEB3B","chr18:44560875","c.761G>T(exon1)","p.C254F","rs2010834",0.53,0.6,0.59,0.62,0.66,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"TCEB3B",1,89,"非同义",12220,"0.4750=19/40","位于基因组单拷贝区域+DNA结构正常",51224,"18q21.1","NM_016427"]
["32629A(745)v32831",3,3,1,"32629A","TCF21","chr6:134216475","c.*2191G>A(exon3)","非编码区","rs9389114",0.9,0.87,0.84,0.89,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TCF21",1,72,"非编码区",14200,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",6943,"6q23-q24","NM_198392"]
["32629A(745)v32882",43,29,0.6744,"32629A","TCTE1","chr6:44250165","c.978T>C(exon4)","p.G326G","rs516582",0.64,0.58,0.6,0.56,0.57,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TCTE1",1,64,"同义",13203,"0.6957=32/46","位于基因组单拷贝区域+DNA结构正常",202500,"6p21.1","NM_182539"]
["32629A(745)v32937",76,76,1,"32629A","TEDDM1","chr1:182369078","c.543C>T(exon1)","p.P181P","rs6698722",0.85,0.84,0.85,0.83,0.85,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TEDDM1",1,75,"同义",13203,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",127670,"1q25.3","NM_172000"]
["32629A(745)v32956",28,15,0.5357,"32629A","TELO2","chr16:1545642","c.613+18G>C(exon3)","非编码区","rs117268078",0.032,0.053,0.062,0.044,0.075,0.065,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,6,0,"TELO2",1,50,"非编码区",16103,"0.5429=19/35","位于基因组单拷贝区域+DNA结构正常",9894,"16p13.3","NM_016111"]
["32629A(745)v33007",4,2,0.5,"32629A","TEX13B","chrX:107225579","c.-72G>T(exon1)","非编码区","rs6622278",null,0.12,0.082,0.16,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"TEX13B",1,70,"非编码区",14300,"0.5000=2/4","位于基因组单拷贝区域+DNA结构正常",56156,"Xq22.3","NM_031273"]
["32629A(745)v33025",240,239,0.9958,"32629A","TEX9","chr15:56719797","c.964-6G>T(exon11)","非编码区","rs795785",0.95,0.92,0.89,0.96,0.94,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TEX9",1,290,"非编码区",16202,"0.9964=275/276","位于基因组单拷贝区域+DNA结构正常",374618,"15q21.3","NM_198524"]
["32629A(745)v33071",28,20,0.7143,"32629A","TGM1","chr14:24718515","c.*4C>T(exon15)","非编码区","rs2229463",0.72,0.55,0.55,0.55,0.54,0.58,"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1型","AR",242300,5,3,2,1,"TGM1",1,62,"非编码区",14200,"0.7000=21/30","位于基因组单拷贝区域+DNA结构正常",7051,"14q11.2","NM_000359"]
["32629A(745)v33118",31,14,0.4516,"32629A","THAP4","chr2:242572846","c.726T>C(exon2)","p.S242S","rs3208142",0.43,0.55,0.56,0.53,0.54,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"THAP4",1,62,"同义",13203,"0.4706=16/34","位于基因组单拷贝区域+DNA结构正常",51078,"2q37.3","NM_015963"]
["32629A(745)v33132",88,42,0.4773,"32629A","THBS2","chr6:169622490","c.3075C>T(exon20)","p.A1025A","rs9505895",0.22,0.14,0.15,0.14,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"椎间盘疾病（易感）",null,603932,5,2,14,1,"THBS2",1,94,"同义",13203,"0.4510=46/102","位于基因组单拷贝区域+DNA结构正常",7058,"6q27","NM_003247"]
["32629A(745)v33192",48,48,1,"32629A","THSD1","chr13:52971893","c.495C>T(exon3)","p.I165I","rs3803264",0.59,0.63,0.65,0.61,0.64,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"THSD1",1,88,"同义",13203,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",55901,"13q14.3","NM_018676"]
["32629A(745)v33249",16,11,0.6875,"32629A","TIGD5","chr8:144681777","c.1704G>T(exon1)","p.M568I","rs10282929",0.6,0.46,0.46,0.47,0.51,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TIGD5",0.82,9.4,"非同义",12220,"0.6875=11/16","位于基因组单拷贝区域+DNA结构正常",84948,"8q24.3","NM_032862"]
["32629A(745)v33267",127,127,1,"32629A","TINAG","chr6:54186147","c.472T>C(exon3)","p.S158P","rs1058768",0.74,0.84,0.82,0.87,0.83,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TINAG",1,200,"非同义",12220,"1.0000=153/153","位于基因组单拷贝区域+DNA结构正常",27283,"6p12.1","NM_014464"]
["32629A(745)v33320",88,88,1,"32629A","TLL1","chr4:167012506","c.2656+13A>G(exon19)","非编码区","rs2254420",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",613087,5,1,4,1,"TLL1",1,210,"非编码区",16203,"1.0000=101/101","位于基因组单拷贝区域+DNA结构正常",7092,"4q32-q33","NM_012464"]
["32629A(745)v33330",48,48,1,"32629A","TLN2","chr15:62990971","c.1492C>T(exon13)","p.L498L","rs12905981",0.35,0.65,0.69,0.61,0.61,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"TLN2",1,100,"同义",13203,"1.0000=57/57","位于基因组单拷贝区域+DNA结构正常",83660,"15q15-q21","NM_015059"]
["32629A(745)v33379",64,33,0.5156,"32629A","TM4SF5","chr17:4684095","c.189G>A(exon2)","p.P63P","rs13520",0.33,0.22,0.2,0.23,0.19,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TM4SF5",1,75,"同义",13203,"0.4805=37/77","位于基因组单拷贝区域+DNA结构正常",9032,"17p13.3","NM_003963"]
["32629A(745)v33434",35,35,1,"32629A","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",{"$nulls":4},5,null,5,0,"TMC7",1,100,"非编码区",16203,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",79905,"16p12.3","NM_001160364"]
["32629A(745)v33466",128,61,0.4766,"32629A","TMCO7","chr16:68936332","c.1592C>T(exon9)","p.P531L","rs372396656",{"$nulls":4},0.00052,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"TMCO7",1,120,"非同义",12310,"0.4643=65/140","位于基因组单拷贝区域+DNA结构正常",79613,"16q22.1","NM_024562"]
["32629A(745)v33507",30,30,1,"32629A","TMEM128","chr4:4249483","c.-131G>A(exon1)","非编码区","rs2916466",0.85,0.76,0.77,0.76,0.77,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TMEM128",1,200,"非编码区",14200,"1.0000=32/32","位于基因组单拷贝区域+DNA结构正常",85013,"4p16.3","NM_032927"]
["32629A(745)v33522",117,117,1,"32629A","TMEM132B","chr12:126068417","c.1299T>C(exon5)","p.T433T","rs6489006",0.92,0.96,0.97,0.96,0.97,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TMEM132B",1,110,"同义",13203,"1.0000=127/127","位于基因组多拷贝区域+DNA结构正常",114795,"12q24.31","NM_052907"]
["32629A(745)v33593",51,51,1,"32629A","TMEM177","chr2:120438696","c.267A>G(exon2)","p.Q89Q","rs939777",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TMEM177",1,61,"同义",13203,"1.0000=58/58","位于基因组单拷贝区域+DNA结构正常",80775,"2q14.2","NM_001105198"]
["32629A(745)v33637",12,6,0.5,"32629A","TMEM19","chr12:72094959","c.*184T>C(exon6)","非编码区","rs1048897",0.27,0.33,0.39,0.28,0.37,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TMEM19",1,160,"非编码区",14200,"0.5000=6/12","位于基因组单拷贝区域+DNA结构正常",55266,"12q21.1","NM_018279"]
["32629A(745)v33653",4,4,1,"32629A","TMEM220","chr17:10633245","c.-77A>G(exon1)","非编码区","rs202312",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TMEM220",1,180,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",388335,"17p13.1","NM_001004313"]
["32629A(745)v33707",5,2,0.4,"32629A","TMEM41B","chr11:9336147","c.-159G>A(exon1)","非编码区","rs75582454",0.0012,0.0096,0.0095,0.0097,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"TMEM41B",1,170,"非编码区",14100,"0.4000=2/5","位于基因组单拷贝区域+DNA结构正常",440026,"11p15.4","NM_015012"]
["32629A(745)v33745",56,56,1,"32629A","TMEM61","chr1:55457710","c.567G>A(exon3)","p.A189A","rs2500326",0.79,0.62,0.59,0.64,0.65,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"TMEM61",1,60,"同义",13203,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",199964,"1p32.3","NM_182532"]
["32629A(745)v33774",210,201,0.9571,"32629A","TMEM87A","chr15:42553219-42553219","c.460-19(exon6)delA","非编码区","rs5812215",0.91,0.94,0.93,0.94,0.14,null,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"TMEM87A",1,180,"非编码区",2500,"0.9623=230/239","位于基因组单拷贝区域+简单重复结构",25963,"15q15.1","NM_015497"]
["32629A(745)v33831",152,73,0.4803,"32629A","TMPRSS11F","chr4:68995529","c.10G>A(exon1)","p.A4T","rs10030708",0.33,0.48,0.41,0.55,0.46,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TMPRSS11F",1,170,"非同义",12220,"0.4795=82/171","位于基因组单拷贝区域+DNA结构正常",389208,"4q13.2","NM_207407"]
["32629A(745)v33862",157,72,0.4586,"32629A","TMPRSS5","chr11:113576932","c.3+12T>C(exon1)","非编码区","rs7926267",0.77,0.73,0.73,0.73,0.69,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TMPRSS5",1,70,"非编码区",16203,"0.4481=82/183","位于基因组单拷贝区域+DNA结构正常",80975,"11q","NM_030770"]
["32629A(745)v33906",57,57,1,"32629A","TNFRSF10A","chr8:23059324","c.626G>C(exon4)","p.R209T","rs20575",0.58,0.98,0.98,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","22401174;19356949;19643596;21484799;23050498",{"$nulls":3},5,null,3,0,"TNFRSF10A",1,98,"非同义",12220,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",8797,"8p21","NM_003844","rs20575|\"Hepatocellular_carcinoma_in_hepatitis_C--infected_patients_association_with\"|22401174"]
["32629A(745)v33919",134,134,1,"32629A","TNFRSF11B","chr8:119941173","c.401-5T>C(exon3)","非编码区","rs3134046",0.92,0.9,0.91,0.88,0.86,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年Paget病","AR",239000,5,1,1,1,"TNFRSF11B",1,130,"非编码区",16202,"1.0000=155/155","位于基因组单拷贝区域+DNA结构正常",4982,"8q24","NM_002546",null,"rs3134046|Benign|NA|NA|criteria provided, single submitter|NA"]
["32629A(745)v33975",73,42,0.5753,"32629A","TNK1","chr17:7290788-7290788","c.1492+12(exon10)delG","非编码区","rs5819155",0.32,0.49,0.51,0.47,0.068,0.46,"杂合","未知","内含子突变",{"$nulls":4},4,null,3,0,"TNK1",1,60,"非编码区",2500,"0.5769=45/78","位于基因组单拷贝区域+DNA结构正常",8711,"17p13.1","NM_001251902"]
["32629A(745)v34003",93,93,1,"32629A","TNN","chr1:175054548","c.1242C>T(exon6)","p.H414H","rs1573758",0.54,0.39,0.39,0.39,0.38,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"TNN",1,140,"同义",13203,"1.0000=101/101","位于基因组单拷贝区域+DNA结构正常",63923,"1q23-q24","NM_022093"]
["32629A(745)v34034",122,122,1,"32629A","TNR","chr1:175365663","c.1240+17C>T(exon5)","非编码区","rs859446",0.5,0.63,0.56,0.71,0.63,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"TNR",1,110,"非编码区",16203,"1.0000=145/145","位于基因组单拷贝区域+DNA结构正常",7143,"1q24","NM_003285"]
["32629A(745)v34093",104,44,0.4231,"32629A","TOR1AIP1","chr1:179876988","c.830C>G(exon7)","p.P277R","rs609521",0.58,0.8,0.8,0.79,0.75,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TOR1AIP1",1,140,"非同义",12210,"0.4159=47/113","位于基因组单拷贝区域+DNA结构正常",26092,"1q24.2","NM_001267578"]
["32629A(745)v34110",70,35,0.5,"32629A","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",114480,5,1,4,11,"TP53",1,97,"非同义",11200,"0.4940=41/83","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"]
["32629A(745)v34118",7,7,1,"32629A","TPCN2","chr11:68816370","c.-96A>G(exon1)","非编码区","rs4930642",0.81,0.73,0.75,0.71,0.76,null,"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10型",null,612267,5,1,12,1,"TPCN2",1,63,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",219931,"11q13.3","NM_139075"]
["32629A(745)v34161",173,95,0.5491,"32629A","TPP2","chr13:103316113","c.3201+19G>A(exon25)","非编码区","rs7334625",0.47,0.48,0.45,0.5,0.43,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"TPP2",1,200,"非编码区",16203,"0.5744=112/195","位于基因组单拷贝区域+DNA结构正常",7174,"13q32-q33","NM_003291"]
["32629A(745)v34176",40,18,0.45,"32629A","TPRX1","chr19:48305674","c.594A>G(exon2)","p.P198P","rs78381908",0.14,0.19,0.19,0.18,0.16,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TPRX1",1,100,"同义",13203,"0.4634=19/41","位于基因组单拷贝区域+DNA结构正常",284355,"19q13.33","NM_198479"]
["32629A(745)v34222",603,603,1,"32629A","TPTE","chr21:10910347","c.1409T>C(exon22)","p.L470P","rs150482",0.83,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"TPTE",1,780,"非同义",12220,"1.0000=688/688","位于基因组多拷贝区域+DNA结构正常",7179,"21p11","NM_199261"]
["32629A(745)v34290",53,27,0.5094,"32629A","TRAPPC9","chr8:141461266","c.501T>C(exon2)","p.G167G","rs3735801",0.54,0.58,0.58,0.59,0.57,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","常染色体隐性遗传性精神智力发育迟滞13型","AR",613192,5,3,6,1,"TRAPPC9",1,94,"同义",13203,"0.5439=31/57","位于基因组单拷贝区域+DNA结构正常",83696,"8q24.3","NM_031466",null,"rs3735801|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v34309",28,28,1,"32629A","TREML4","chr6:41196104-41196105","c.-62(exon1)_c.-61(exon1)insCTT","非编码区","rs10700462",null,0.96,0.95,0.97,0.91,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,8,0,"TREML4",1,73,"非编码区",2430,"1.0000=32/32","位于基因组单拷贝区域+DNA结构正常",285852,"6p21.1","NM_198153"]
["32629A(745)v34362",83,83,1,"32629A","TRIM40","chr6:30115484","c.603-18A>G(exon5)","非编码区","rs9261513",0.24,0.29,0.28,0.3,0.27,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TRIM40",0.5,34,"非编码区",16202,"1.0000=93/93","位于基因组单拷贝区域+DNA结构正常",135644,"6p22.1","NM_138700"]
["32629A(745)v34375",5,3,0.6,"32629A","TRIM45","chr1:117654638","c.*289C>A(exon6)","非编码区","rs12118664",0.33,0.12,0.13,0.1,0.1,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"TRIM45",1,72,"非编码区",14200,"0.6000=3/5","位于基因组单拷贝区域+DNA结构正常",80263,"1p13.1","NM_025188"]
["32629A(745)v34437",12,12,1,"32629A","TRIM67","chr1:231298898","c.183C>A(exon1)","p.A61A","rs61750990",0.086,0.24,0.24,0.24,0.23,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TRIM67",1,64,"同义",13203,"1.0000=12/12","位于基因组单拷贝区域+DNA结构正常",440730,"1q42.2","NM_001004342"]
["32629A(745)v34490",149,77,0.5168,"32629A","TRMT10C","chr3:101283792","c.167C>G(exon2)","p.P56R","rs3762735",0.14,0.12,0.14,0.092,0.13,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TRMT10C",1,150,"非同义",12220,"0.5150=86/167","位于基因组单拷贝区域+DNA结构正常",54931,"3q12.3","NM_017819"]
["32629A(745)v34500",21,21,1,"32629A","TRMT61A","chr14:103996396","c.81G>A(exon2)","p.A27A","rs2765037",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TRMT61A",1,38,"同义",13203,"1.0000=22/22","位于基因组单拷贝区域+DNA结构正常",115708,"14q32","NM_152307"]
["32629A(745)v34564",157,157,1,"32629A","TRPS1","chr8:116635872-116635873","c.-9(exon2)_c.-8(exon2)insT","非编码区","rs35329862",{"$nulls":4},0.48,0.5,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"毛发-鼻-指(趾)综合征3型","AD",190351,3,1,2,2,"TRPS1",1,100,"非编码区",2430,"1.0000=175/175","位于基因组单拷贝区域+DNA结构正常",7227,"8q24.12","NM_014112"]
["32629A(745)v34578",80,80,1,"32629A","TRPV3","chr17:3422032","c.1923C>T(exon15)","p.D641D","rs7216486",0.67,0.95,0.97,0.93,0.94,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"残毁性掌跖角化病伴腔口周围角化性斑块/OLMSTED综合征","AD",614594,5,1,8,1,"TRPV3",1,93,"同义",13203,"1.0000=84/84","位于基因组单拷贝区域+DNA结构正常",162514,"17p13.2","NM_001258205"]
["32629A(745)v34613",86,40,0.4651,"32629A","TSHZ3","chr19:31769763","c.936C>T(exon2)","p.V312V","rs12461253",0.35,0.55,0.57,0.52,0.57,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TSHZ3",1,79,"同义",13203,"0.4898=48/98","位于基因组多拷贝区域+DNA结构正常",57616,"19q12","NM_020856"]
["32629A(745)v34669",119,50,0.4202,"32629A","TSPAN8","chr12:71533534","c.218G>C(exon4)","p.G73A","rs3763978",0.23,0.29,0.27,0.3,0.32,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18773191;20052686",{"$nulls":3},5,null,3,0,"TSPAN8",1,210,"非同义",12210,"0.4242=56/132","位于基因组单拷贝区域+DNA结构正常",7103,"12q14.1-q21.1","NM_004616"]
["32629A(745)v34684",68,68,1,"32629A","TSSC1","chr2:3217908","c.516+12C>G(exon5)","非编码区","rs11682452",0.92,0.96,0.98,0.95,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TSSC1",1,91,"非编码区",16203,"1.0000=80/80","位于基因组单拷贝区域+DNA结构正常",7260,"2p25.3","NM_003310"]
["32629A(745)v34741",60,32,0.5333,"32629A","TTC29","chr4:147754939","c.977+19A>G(exon9)","非编码区","rs12506386",0.066,0.062,0.048,0.078,0.092,0.084,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TTC29",1,150,"非编码区",16203,"0.5231=34/65","位于基因组单拷贝区域+DNA结构正常",83894,"4q31.22","NM_031956"]
["32629A(745)v34753",23,15,0.6522,"32629A","TTC32","chr2:20101717","c.-102T>C(exon1)","非编码区","rs2304588",0.12,0.15,0.16,0.15,0.19,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TTC32",1,160,"非编码区",14200,"0.6667=16/24","位于基因组单拷贝区域+DNA结构正常",130502,"2p24.1","NM_001008237"]
["32629A(745)v34812",3,3,1,"32629A","TTI2","chr8:33370261","c.-130C>T(exon1)","非编码区","rs34226219",0.22,0.26,0.23,0.3,0.26,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精神（智力）发育迟滞-39","AR",615541,5,1,5,1,"TTI2",1,93,"非编码区",14200,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",80185,"8p12","NM_025115"]
["32629A(745)v34860",87,39,0.4483,"32629A","TTN","chr2:179397561","c.103781G>A(exon358)","p.R34594H","rs3829747",0.21,0.4,0.44,0.35,0.42,0.43,"杂合","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",608807,5,3,69,6,"TTN",0.99,120,"非同义",12210,"0.4348=40/92","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs3829747|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34863",89,41,0.4607,"32629A","TTN","chr2:179406003","c.97795+6G>T(exon350)","非编码区","rs3731750",0.5,0.68,0.71,0.65,0.67,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"迟发性胫骨肌营养不良症","AD",600334,5,1,69,6,"TTN",0.99,120,"非编码区",16202,"0.4490=44/98","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs3731750|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34873",89,49,0.5506,"32629A","TTN","chr2:179444939","c.67075G>A(exon318)","p.V22359I","rs2303838",0.35,0.61,0.63,0.58,0.59,0.6,"杂合","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,604145,5,2,69,6,"TTN",0.99,120,"非同义",12220,"0.5300=53/100","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs2303838|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34875",134,76,0.5672,"32629A","TTN","chr2:179451420","c.64208C>T(exon308)","p.T21403I","rs2042996",0.51,0.69,0.73,0.66,0.68,0.7,"杂合","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",608807,5,3,69,6,"TTN",0.99,120,"非同义",12220,"0.5548=81/146","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs2042996|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34885",227,96,0.4229,"32629A","TTN","chr2:179558366","c.31564A>G(exon119)","p.I10522V","rs2042995",0.48,0.55,0.6,0.5,0.56,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"迟发性胫骨肌营养不良症","AD",600334,5,1,69,6,"TTN",0.99,120,"非同义",12220,"0.4180=107/256","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"ILE10522VAL|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;rs2042995|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34894",30,18,0.6,"32629A","TTN","chr2:179580434","c.25707T>C(exon89)","p.Y8569Y","rs2742329",0.051,0.22,0.23,0.22,0.21,0.27,"杂合","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,613765,5,2,69,6,"TTN",0.99,120,"同义",13203,"0.6286=22/35","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs2742329|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34897",111,111,1,"32629A","TTN","chr2:179585266","c.23223G>A(exon80)","p.Q7741Q","rs2562831",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,"肢带型肌营养不良症2J型","AR",608807,5,1,69,6,"TTN",0.99,120,"同义",13203,"1.0000=118/118","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs2562831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34907",164,85,0.5183,"32629A","TTN","chr2:179606538","c.11422C>T(exon48)","p.P3808S","rs2627037",0.27,0.24,0.24,0.23,0.23,0.25,"杂合","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",611705,5,3,69,6,"TTN",0.99,120,"非同义",12220,"0.5110=93/182","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs2627037|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;PRO3491SER|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34910",53,26,0.4906,"32629A","TTN","chr2:179615887","c.11240A>G(exon46)","p.D3747G","rs922984",0.73,0.75,0.75,0.75,0.76,0.75,"杂合","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,603689,5,2,69,6,"TTN",0.99,120,"非同义",12220,"0.4407=26/59","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"]
["32629A(745)v34921",164,89,0.5427,"32629A","TTN","chr2:179641975","c.4715G>A(exon27)","p.R1572Q","rs12476289",0.075,0.21,0.22,0.2,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;20031603","肢带型肌营养不良症2J型","AR",608807,5,3,69,6,"TTN",0.99,120,"非同义",12210,"0.5615=105/187","位于基因组单拷贝区域+DNA结构正常",7273,"2q31","NM_001267550",null,"rs12476289|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v34943",162,162,1,"32629A","TUBA3E","chr2:130951548","c.867C>T(exon4)","p.A289A","rs1052319",{"$nulls":4},0.99,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"TUBA3E",1,200,"同义",13303,"0.9944=178/179","位于基因组多拷贝区域+DNA结构正常",112714,"2q21.1","NM_207312"]
["32629A(745)v34958",111,111,1,"32629A","TUBB1","chr20:57599016","c.534T>G(exon4)","p.T178T","rs163777",null,1,1,1,0.97,1,"纯合","未知","预测范围之外的同义突变",null,"巨血小板减少症","AD",613112,4,1,2,1,"TUBB1",1,96,"同义",13303,"1.0000=127/127","位于基因组多拷贝区域+DNA结构正常",81027,"20q13.32","NM_030773"]
["32629A(745)v35007",135,135,1,"32629A","TULP4","chr6:158735090","c.42T>C(exon1)","p.D14D","rs7756620",0.87,0.88,0.89,0.87,0.88,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TULP4",1,79,"同义",13203,"1.0000=147/147","位于基因组单拷贝区域+DNA结构正常",56995,"6q25-q26","NM_020245"]
["32629A(745)v35042",68,68,1,"32629A","TXNDC2","chr18:9886567","c.110-19T>G(exon2)","非编码区","rs62078799",{"$nulls":4},0.47,null,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,6,0,"TXNDC2",1,310,"非编码区",16302,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",84203,"-","NM_001098529"]
["32629A(745)v35078",62,34,0.5484,"32629A","T","chr6:166579270","c.530G>A(exon4)","p.G177D","rs2305089",0.39,0.33,0.35,0.32,0.34,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23064415;24990759","叶酸敏感型神经管畸形","AR",601634,5,3,6,2,"T",1,79,"非同义",12210,"0.5070=36/71","位于基因组单拷贝区域+DNA结构正常",6862,"6q27","NM_003181","GLY177ASP|\"Chordoma_increased_risk\"|23064415"]
["32629A(745)v35137",4,3,0.75,"32629A","UBE2R2","chr9:33917498","c.*263T>C(exon5)","非编码区","rs4817",0.38,0.17,0.16,0.18,0.12,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"UBE2R2",1,150,"非编码区",14200,"0.7500=3/4","位于基因组单拷贝区域+DNA结构正常",54926,"9p13.3","NM_017811"]
["32629A(745)v35165",216,216,1,"32629A","UBR1","chr15:43256121","c.4700+12A>G(exon42)","非编码区","rs2054389",0.84,0.77,0.8,0.74,0.78,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Johanson-Blizzard综合征","AR",243800,5,1,4,1,"UBR1",1,160,"非编码区",16203,"1.0000=255/255","位于基因组单拷贝区域+DNA结构正常",197131,"15q13","NM_174916"]
["32629A(745)v35206",80,44,0.55,"32629A","UCHL3","chr13:76135028","c.75+11T>A(exon3)","非编码区","rs4884008",0.5,0.66,0.73,0.59,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"UCHL3",1,200,"非编码区",16203,"0.5326=49/92","位于基因组单拷贝区域+DNA结构正常",7347,"13q22.2","NM_001270952"]
["32629A(745)v35255",93,46,0.4946,"32629A","UGT1A4","chr2:234627608","c.142T>G(exon1)","p.L48V","rs2011425",0.14,0.2,0.24,0.16,0.18,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",15057901,{"$nulls":3},5,null,6,0,"UGT1A4",1,160,"非同义",12220,"0.4948=48/97","位于基因组多拷贝区域+DNA结构正常",54657,"2q37","NM_007120","LEU48VAL|\"Decreased_activity\"|15057901"]
["32629A(745)v35268",99,42,0.4242,"32629A","UGT1A5","chr2:234622382","c.745G>C(exon1)","p.V249L","rs17862868",0.14,0.21,0.27,0.16,0.18,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"UGT1A5",1,140,"非同义",12220,"0.4211=48/114","位于基因组多拷贝区域+DNA结构正常",54579,"2q37","NM_019078"]
["32629A(745)v35299",211,211,1,"32629A","UGT2B28","chr4:70160277","c.1340T>G(exon6)","p.I447R","rs6843900",0.38,0.33,0.3,0.35,0.34,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"UGT2B28",1,360,"非同义",12220,"1.0000=243/243","位于基因组多拷贝区域+DNA结构正常",54490,"4q13.2","NM_053039"]
["32629A(745)v35333",65,23,0.3538,"32629A","ULK3","chr15:75131661","c.906T>C(exon8)","p.A302A","rs4886615",0.68,0.72,0.74,0.7,0.72,0.7,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ULK3",1,63,"同义",13203,"0.3768=26/69","位于基因组单拷贝区域+DNA结构正常",25989,"15q24.1","NM_001099436"]
["32629A(745)v35388",87,38,0.4368,"32629A","UNC13C","chr15:54919047","c.6381A>G(exon32)","p.R2127R","rs1520411",0.55,0.69,0.7,0.68,0.66,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"UNC13C",1,200,"同义",13203,"0.4316=41/95","位于基因组单拷贝区域+DNA结构正常",440279,"15q21.3","NM_001080534"]
["32629A(745)v35422",43,43,1,"32629A","UNK","chr17:73812909","c.1020A>G(exon8)","p.P340P","rs9908146",0.82,0.56,0.58,0.54,0.6,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"UNK",1,64,"同义",13203,"1.0000=46/46","位于基因组单拷贝区域+DNA结构正常",85451,"17q25.1","NM_001080419"]
["32629A(745)v35459",120,46,0.3833,"32629A","USH1C","chr11:17523474","c.2226+12C>T(exon21)","非编码区","rs17703528",0.084,0.026,0.033,0.019,0.041,0.03,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"尤塞氏综合症IC型","AR",276904,5,3,7,2,"USH1C",1,72,"非编码区",16203,"0.4211=56/133","位于基因组单拷贝区域+DNA结构正常",10083,"11p14.3","NM_153676",null,"rs17703528|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v35504",43,43,1,"32629A","USP20","chr9:132623293","c.408C>T(exon7)","p.D136D","rs1503375",0.87,0.98,0.99,0.97,0.98,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"USP20",1,55,"同义",13203,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",10868,"9q34.11","NM_006676"]
["32629A(745)v35523",50,50,1,"32629A","USP29","chr19:57641146","c.1103A>G(exon4)","p.N368S","rs1027392",0.74,0.96,0.95,0.97,0.94,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"USP29",1,93,"非同义",12210,"1.0000=54/54","位于基因组单拷贝区域+DNA结构正常",57663,"19q13.43","NM_020903"]
["32629A(745)v35566",74,43,0.5811,"32629A","USP42","chr7:6189717","c.1890G>A(exon13)","p.T630T","rs61753118",0.048,0.036,0.048,0.024,0.024,0.03,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"USP42",1,86,"同义",13103,"0.5714=48/84","位于基因组单拷贝区域+DNA结构正常",84132,"7p22.1","NM_032172"]
["32629A(745)v35640",238,237,0.9958,"32629A","UTS2D","chr3:190995847","c.202+14A>G(exon6)","非编码区","rs3214008",0.47,0.55,0.54,0.55,0.58,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"UTS2D",1,250,"非编码区",16203,"0.9964=276/277","位于基因组单拷贝区域+DNA结构正常",257313,"3q28","NM_198152"]
["32629A(745)v35655",67,67,1,"32629A","VAC14","chr16:70796515","c.1306-7C>T(exon12)","非编码区","rs2305689",0.6,0.55,0.5,0.6,0.55,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"VAC14",1,75,"非编码区",16202,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",55697,"16q22.1","NM_018052"]
["32629A(745)v35694",89,89,1,"32629A","VCAM1","chr1:101203827","c.2208G>A(exon9)","p.K736K","rs3176879",0.87,0.85,0.83,0.86,0.83,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17327408;18633131;18676870;19066394",{"$nulls":3},5,null,1,0,"VCAM1",1,170,"同义",13203,"1.0000=96/96","位于基因组单拷贝区域+DNA结构正常",7412,"1p32-p31","NM_001078"]
["32629A(745)v35726",101,101,1,"32629A","VEGFC","chr4:177605082-177605084","c.1256(exon7)_c.1258(exon7)delTGA","p.M419_S420delinsS","rs5864401",1,1,1,1,0.19,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性淋巴水肿1D型","AD",615907,5,1,1,1,"VEGFC",1,120,"非移码",2223,"1.0000=111/111","位于基因组单拷贝区域+DNA结构正常",7424,"4q34.3","NM_005429"]
["32629A(745)v35777",105,57,0.5429,"32629A","VPS13D","chr1:12336785","c.3140C>T(exon19)","p.P1047L","rs74853154",3.8E-3,0.022,0.0095,0.034,0.018,0.028,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,3,0,"VPS13D",1,120,"非同义",12110,"0.5447=67/123","位于基因组单拷贝区域+DNA结构正常",55187,"1p36.22","NM_015378"]
["32629A(745)v35834",15,8,0.5333,"32629A","VSIG8","chr1:159832425","c.-114C>T(exon1)","非编码区","rs2494507",0.5,0.47,0.5,0.45,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"VSIG8",1,12,"非编码区",14200,"0.5333=8/15","位于基因组单拷贝区域+DNA结构正常",391123,"1q23.2","NM_001013661"]
["32629A(745)v35878",44,25,0.5682,"32629A","VWA8","chr13:42465713","c.494G>A(exon5)","p.R165H","rs9562362",0.2,0.16,0.13,0.19,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"VWA8",1,180,"非同义",12210,"0.5636=31/55","位于基因组单拷贝区域+DNA结构正常",23078,"13q14.11","NM_001009814"]
["32629A(745)v35893",41,28,0.6829,"32629A","VWF","chr12:6127891","c.4693G>T(exon28)","p.V1565L","rs1800385",0.18,0.35,0.35,0.35,0.37,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17296575,"II型 von Willebrand病","AD,AR",613554,5,1,14,3,"VWF",1,85,"非同义",12220,"0.6739=31/46","位于基因组多拷贝区域+DNA结构正常",7450,"12p13.3","NM_000552","VAL1565LEU|\"Proteolysis_by_ADAMTS13_susceptibility_to\"|17296575"]
["32629A(745)v35900",90,43,0.4778,"32629A","VWF","chr12:6174414","c.1182A>C(exon11)","p.S394S","rs1800376",0.28,0.23,0.21,0.25,0.21,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"I型 von Willebrand病","AD",193400,5,1,14,3,"VWF",1,85,"同义",13203,"0.5050=51/101","位于基因组单拷贝区域+DNA结构正常",7450,"12p13.3","NM_000552"]
["32629A(745)v35950",152,64,0.4211,"32629A","WDR11","chr10:122649482","c.2304A>G(exon18)","p.A768A","rs2289337",0.2,0.087,0.1,0.073,0.09,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"促性腺激素分泌不足的性腺功能低下症,伴或不伴嗅觉丧失14型","AD",614858,5,1,8,1,"WDR11",1,180,"同义",13203,"0.4176=71/170","位于基因组单拷贝区域+DNA结构正常",55717,"10q26","NM_018117"]
["32629A(745)v35997",59,59,1,"32629A","WDR38","chr9:127619625-127619626","c.769-18(exon8)_c.769-17(exon8)insC","非编码区","rs35041146",0.86,0.74,0.69,0.78,0.72,0.74,"纯合","未知","内含子突变",{"$nulls":4},4,null,6,0,"WDR38",1,57,"非编码区",2500,"1.0000=66/66","位于基因组单拷贝区域+简单重复结构",401551,"9q33.3","NM_001045476"]
["32629A(745)v36015",122,122,1,"32629A","WDR46","chr6:33254556-33254557","c.1115+15(exon10)_c.1115+16(exon10)insC","非编码区","rs529274324",0.37,0.36,0.39,0.33,0.36,0.33,"纯合","未知","内含子突变",{"$nulls":4},4,null,7,0,"WDR46",1,89,"非编码区",2500,"1.0000=145/145","位于基因组单拷贝区域+DNA结构正常",9277,"6p21.3","NM_005452"]
["32629A(745)v36072",47,22,0.4681,"32629A","WDR64","chr1:241907817","c.1563T>C(exon12)","p.N521N","rs10802990",0.59,0.55,0.54,0.56,0.49,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"WDR64",1,190,"同义",13202,"0.5185=28/54","位于基因组单拷贝区域+DNA结构正常",128025,"1q43","NM_144625"]
["32629A(745)v36122",45,45,1,"32629A","WDR81","chr17:1639458","c.5451A>G(exon9)","p.T1817T","rs11549259",0.72,0.84,0.85,0.84,0.86,0.86,"纯合","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",610185,5,1,8,1,"WDR81",1,33,"同义",13203,"1.0000=51/51","位于基因组单拷贝区域+DNA结构正常",124997,"17p13.3","NM_001163809",null,"rs11549259|Likely benign|NA|NA|no assertion criteria provided|NA"]
["32629A(745)v36147",77,77,1,"32629A","WDR90","chr16:709001","c.3001C>A(exon24)","p.P1001T","rs4984906",0.7,0.99,0.99,0.99,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"WDR90",1,38,"非同义",12220,"0.9884=85/86","位于基因组单拷贝区域+DNA结构正常",197335,"16p13.3","NM_145294"]
["32629A(745)v36189",50,50,1,"32629A","WFS1","chr4:6302519","c.997G>A(exon8)","p.V333I","rs1801212",0.88,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;21726277","常染色体显性遗传耳聋","AD",600965,5,1,13,5,"WFS1",1,49,"非同义",12220,"1.0000=52/52","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_006005","VAL333ILE|\"Wolframin_variant\"|21726277","VAL333ILE|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v36193",19,19,1,"32629A","WFS1","chr4:6303022","c.1500C>T(exon8)","p.N500N","rs1801214",null,0.93,0.88,0.98,0.95,0.94,"纯合","未知","预测范围之外的同义突变","24033266;20581827;23462794","WOLFRAM 综合征1型（尿崩症-糖尿病-视神经萎缩-耳聋综合征）","AR",222300,4,1,13,5,"WFS1",1,49,"同义",13303,"1.0000=21/21","位于基因组单拷贝区域+DNA结构正常",7466,"4p16.1","NM_006005",null,"rs1801214|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266"]
["32629A(745)v36227",71,71,1,"32629A","WNK1","chr12:939302","c.1287A>G(exon4)","p.A429A","rs10774466",0.69,0.88,0.88,0.87,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18809789,"假性醛固酮减少症2C型","AD",614492,5,1,8,2,"WNK1",0.97,110,"同义",13203,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",65125,"12p13.3","NM_001184985"]
["32629A(745)v36269",2,2,1,"32629A","WT1","chr11:32410002","c.*602A>G(exon10)","非编码区","rs5030320",0.58,0.75,0.72,0.77,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Meacham综合症",null,608978,5,1,4,6,"WT1",0.99,70,"非编码区",14200,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",7490,"11p13","NM_024426"]
["32629A(745)v36273",112,111,0.9911,"32629A","WTH3DI","chr2:132120501-132120502","c.*27(exon1)_c.*28(exon1)insA","非编码区","rs146351322",0.74,0.79,0.76,0.82,0.77,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"WTH3DI",1,380,"非编码区",2420,"0.9919=123/124","位于基因组多拷贝区域+简单重复结构",150786,"2q21.1","NM_001077637"]
["32629A(745)v36326",121,121,1,"32629A","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",{"$nulls":4},5,null,4,0,"XKR3",1,120,"非同义",12220,"1.0000=133/133","位于基因组多拷贝区域+DNA结构正常",150165,"22q11.1","NM_175878"]
["32629A(745)v36345",61,39,0.6393,"32629A","XPO7","chr8:21862551","c.3216A>G(exon28)","p.S1072S","rs1058486",0.58,0.56,0.59,0.53,0.54,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"XPO7",1,110,"同义",13203,"0.6094=39/64","位于基因组单拷贝区域+DNA结构正常",23039,"8p21","NM_015024"]
["32629A(745)v36399",2,2,1,"32629A","YME1L1","chr10:27400369","c.*537G>T(exon20)","非编码区",{"$nulls":7},"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"YME1L1",1,190,"非编码区",14400,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",10730,"10p14","NM_139312"]
["32629A(745)v36456",61,32,0.5246,"32629A","ZBED4","chr22:50278568","c.1258A>G(exon2)","p.I420V","rs910799",0.62,0.81,0.79,0.84,0.85,0.87,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZBED4",1,65,"非同义",12220,"0.5397=34/63","位于基因组单拷贝区域+DNA结构正常",9889,"22q13.33","NM_014838"]
["32629A(745)v36479",105,57,0.5429,"32629A","ZBTB40","chr1:22852715","c.3546G>C(exon19)","p.P1182P","rs881646",0.32,0.46,0.48,0.44,0.43,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZBTB40",1,100,"同义",13203,"0.5339=63/118","位于基因组单拷贝区域+DNA结构正常",9923,"1p36","NM_001083621"]
["32629A(745)v36531",106,106,1,"32629A","ZC3H7A","chr16:11852354","c.2361T>G(exon20)","p.V787V","rs8743",0.53,0.61,0.63,0.58,0.61,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18381780,{"$nulls":3},5,null,2,0,"ZC3H7A",1,140,"同义",13203,"1.0000=123/123","位于基因组单拷贝区域+DNA结构正常",29066,"16p13-p12","NM_014153"]
["32629A(745)v36546",52,25,0.4808,"32629A","ZC3HAV1","chr7:138764233","c.1454G>A(exon4)","p.R485K","rs2236426",0.23,0.42,0.4,0.45,0.45,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZC3HAV1",1,110,"非同义",12220,"0.4561=26/57","位于基因组单拷贝区域+DNA结构正常",56829,"7q34","NM_020119"]
["32629A(745)v36608",44,19,0.4318,"32629A","ZDHHC21","chr9:14618856","c.*108G>A(exon10)","非编码区","rs3802482",0.6,0.63,0.64,0.61,0.6,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZDHHC21",1,240,"非编码区",14200,"0.4000=22/55","位于基因组单拷贝区域+DNA结构正常",340481,"9p22.3","NM_178566"]
["32629A(745)v36662",107,107,1,"32629A","ZFP28","chr19:57060317","c.524-10C>T(exon5)","非编码区","rs2074940",0.46,0.66,0.64,0.68,0.64,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZFP28",1,160,"非编码区",16202,"1.0000=118/118","位于基因组单拷贝区域+DNA结构正常",140612,"-","NM_020828"]
["32629A(745)v36681",20,20,1,"32629A","ZFPM1","chr16:88599696-88599697","c.1330(exon10)_c.1331(exon10)delGA","p.E444Afs*227","rs67712719",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",{"$nulls":4},5,null,6,0,"ZFPM1",0.92,19,"移码",2120,"1.0000=24/24","位于基因组单拷贝区域+DNA结构正常",161882,"16q24.2","NM_153813"]
["32629A(745)v36738",138,77,0.558,"32629A","ZIM3","chr19:57649900","c.82G>A(exon3)","p.E28K","rs2370134",0.14,0.26,0.22,0.29,0.25,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZIM3",1,110,"非同义",12220,"0.5796=91/157","位于基因组单拷贝区域+DNA结构正常",114026,"-","NM_052882"]
["32629A(745)v36766",73,73,1,"32629A","ZMYND8","chr20:45853037","c.3051T>C(exon19)","p.T1017T","rs2664544",0.9,0.92,0.95,0.89,0.92,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZMYND8",1,110,"同义",13203,"1.0000=83/83","位于基因组单拷贝区域+DNA结构正常",23613,"20q13.12","NM_183047"]
["32629A(745)v36812",46,24,0.5217,"32629A","ZNF138","chr7:64293217","c.*1353T>C(exon5)","非编码区","rs3763506",0.24,0.16,0.17,0.14,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF138",1,220,"非编码区",14200,"0.4364=24/55","位于基因组多拷贝区域+DNA结构正常",7697,"7q11.21","NM_001160183"]
["32629A(745)v36869",143,76,0.5315,"32629A","ZNF180","chr19:44981725","c.973G>A(exon5)","p.E325K","rs188959141",0.0002,0.0024,0,0.0049,0.0016,0.00046,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,6,0,"ZNF180",1,150,"非同义",12120,"0.5528=89/161","位于基因组单拷贝区域+DNA结构正常",7733,"19q13.2","NM_013256"]
["32629A(745)v36888",163,77,0.4724,"32629A","ZNF192","chr6:28120995","c.937C>T(exon6)","p.R313W","rs147775187",0.0016,0,0,0,0.0022,0.0042,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"ZNF192",1,140,"非同义",12110,"0.4670=85/182","位于基因组单拷贝区域+DNA结构正常",7745,"6p21.3","NM_006298"]
["32629A(745)v36922",179,178,0.9944,"32629A","ZNF211","chr19:58153000","c.1341T>C(exon5)","p.F447F","rs3746218",0.21,0.35,0.37,0.34,0.32,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ZNF211",1,170,"同义",13203,"0.9951=204/205","位于基因组多拷贝区域+DNA结构正常",10520,"19q13.4","NM_001265597"]
["32629A(745)v36959",141,73,0.5177,"32629A","ZNF233","chr19:44778796-44778796","c.1983(exon5)delG","p.S661Sfs*45","rs59660444",0.32,0.23,0.25,0.2,null,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF233",1,170,"移码",2120,"0.4940=83/168","位于基因组多拷贝区域+DNA结构正常",353355,"19q13.31","NM_181756"]
["32629A(745)v37020",68,68,1,"32629A","ZNF276","chr16:89805261","c.*607A>G(exon11)","非编码区","rs1800359",0.85,0.99,0.99,0.99,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19578364,{"$nulls":3},5,null,6,0,"ZNF276",1,55,"非编码区",14200,"1.0000=76/76","位于基因组单拷贝区域+DNA结构正常",92822,"16q24.3","NM_001113525"]
["32629A(745)v37051",115,54,0.4696,"32629A","ZNF285","chr19:44890801","c.1606A>G(exon4)","p.R536G","rs12610859",0.43,0.17,0.2,0.15,0.15,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF285",1,120,"非同义",12220,"0.4729=61/129","位于基因组多拷贝区域+DNA结构正常",26974,"-","NM_152354"]
["32629A(745)v37091",2,2,1,"32629A","ZNF30","chr19:35418095","c.-156G>C(exon1)","非编码区","rs56330896",0.28,0.22,0.21,0.23,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ZNF30",1,180,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",90075,"19q13.11","NM_001099438"]
["32629A(745)v37152",81,35,0.4321,"32629A","ZNF382","chr19:37118439","c.1640C>T(exon5)","p.T547M","rs61732180",0.13,0.17,0.15,0.18,0.15,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF382",0.99,190,"非同义",12220,"0.4483=39/87","位于基因组单拷贝区域+DNA结构正常",84911,"19q13.12","NM_032825"]
["32629A(745)v37167",3,3,1,"32629A","ZNF398","chr7:148879951","c.*3058C>A(exon7)","非编码区","rs1044358",0.59,0.91,0.92,0.9,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF398",1,88,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",57541,"7q36.1","NM_020781"]
["32629A(745)v37248",31,14,0.4516,"32629A","ZNF462","chr9:109689859","c.3666T>C(exon3)","p.N1222N","rs3814540",0.52,0.47,0.49,0.45,0.47,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF462",1,100,"同义",13203,"0.4375=14/32","位于基因组单拷贝区域+DNA结构正常",58499,"9q31.2","NM_021224"]
["32629A(745)v37284",113,54,0.4779,"32629A","ZNF480","chr19:52825235","c.732A>G(exon5)","p.S244S","rs8102373",0.53,0.41,0.44,0.38,0.4,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF480",1,190,"同义",13203,"0.5000=66/132","位于基因组多拷贝区域+DNA结构正常",147657,"19q13.41","NM_144684"]
["32629A(745)v37299",36,18,0.5,"32629A","ZNF493","chr19:21608272","c.*486A>T(exon4)","非编码区","rs77440396",0.29,0.35,0.4,0.29,0.35,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ZNF493",0.98,170,"非编码区",14200,"0.4762=20/42","位于基因组多拷贝区域+DNA结构正常",284443,"19p12","NM_001076678"]
["32629A(745)v37336",288,59,0.2049,"32629A","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",1,140,"非编码区",16403,"0.2627=93/354","位于基因组多拷贝区域+DNA结构正常",162655,"18p11.21","NM_145287"]
["32629A(745)v37416",73,39,0.5342,"32629A","ZNF568","chr19:37488472","c.1879C>G(exon10)","p.P627A","rs1644698",0.5,0.26,0.24,0.28,0.28,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,17,0,"ZNF568",0.97,110,"非同义",12220,"0.5263=40/76","位于基因组多拷贝区域+DNA结构正常",374900,"19q13.12","NM_001204838"]
["32629A(745)v37435",111,111,1,"32629A","ZNF57","chr19:2917287","c.668C>A(exon4)","p.T223N","rs2288958",0.47,0.61,0.58,0.65,0.61,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF57",1,160,"非同义",12220,"1.0000=129/129","位于基因组单拷贝区域+DNA结构正常",126295,"19p13.3","NM_173480"]
["32629A(745)v37492",6,6,1,"32629A","ZNF598","chr16:2059698","c.51A>C(exon1)","p.G17G","rs71384661",1,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF598",1,26,"同义",13203,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",90850,"16p13.3","NM_178167"]
["32629A(745)v37537",6,6,1,"32629A","ZNF626","chr19:20806537","c.*559C>T(exon4)","非编码区","rs10407393",0.78,0.82,0.83,0.82,0.8,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"ZNF626",0.99,190,"非编码区",14200,"1.0000=7/7","位于基因组多拷贝区域+DNA结构正常",199777,"19p12","NM_001076675"]
["32629A(745)v37567",86,86,1,"32629A","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",{"$nulls":4},5,null,6,0,"ZNF654",1,130,"非同义",12220,"1.0000=94/94","位于基因组多拷贝区域+DNA结构正常",55279,"3p11.1","NM_018293"]
["32629A(745)v37624",15,7,0.4667,"32629A","ZNF684","chr1:41013260","c.*128C>T(exon5)","非编码区","rs2297756",0.56,0.56,0.56,0.55,0.6,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF684",1,160,"非编码区",14200,"0.5556=10/18","位于基因组单拷贝区域+DNA结构正常",127396,"1p34.2","NM_152373"]
["32629A(745)v37666",30,30,1,"32629A","ZNF707","chr8:144776109","c.525A>G(exon7)","p.S175S","rs11786757",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF707",1,67,"同义",13203,"1.0000=36/36","位于基因组单拷贝区域+DNA结构正常",286075,"8q24.3","NM_173831"]
["32629A(745)v37699",484,116,0.2397,"32629A","ZNF717","chr3:75786252","c.2522C>A(exon5)","p.P841H","rs140641854",{"$nulls":4},0.43,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,174,0,"ZNF717",1,480,"非同义",12310,"0.2500=136/544","位于基因组多拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223"]
["32629A(745)v37714",310,187,0.6032,"32629A","ZNF717","chr3:75786440","c.2334G>A(exon5)","p.G778G","rs6790146",0.62,{"$nulls":3},0.57,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,174,0,"ZNF717",1,480,"同义",13203,"0.6589=255/387","位于基因组单拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223"]
["32629A(745)v37775",274,80,0.292,"32629A","ZNF717","chr3:75787222","c.1552T>C(exon5)","p.C518R","rs200005894",{"$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",{"$nulls":4},3,null,174,0,"ZNF717",1,480,"非同义",12320,"0.2288=70/306","位于基因组多拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223"]
["32629A(745)v37822",309,309,1,"32629A","ZNF717","chr3:75788010","c.764T>G(exon5)","p.V255G","rs151311432",{"$nulls":4},0.9,0,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,174,0,"ZNF717",1,480,"非同义",12320,"0.9506=308/324","位于基因组单拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223"]
["32629A(745)v37846",174,69,0.3966,"32629A","ZNF717","chr3:75788484","c.290T>C(exon5)","p.I97T","rs74485599",{"$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",{"$nulls":4},3,null,174,0,"ZNF717",1,480,"非同义",12320,"0.4197=81/193","位于基因组单拷贝区域+DNA结构正常",100131827,"3p12.3","NM_001128223"]
["32629A(745)v37907",154,55,0.3571,"32629A","ZNF765","chr19:53912548","c.*168T>C(exon4)","非编码区","rs7246019",0.77,0.67,0.7,0.65,0.65,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF765",1,300,"非编码区",14200,"0.3721=64/172","位于基因组多拷贝区域+DNA结构正常",91661,"19q13.42","NM_001040185"]
["32629A(745)v37922",40,18,0.45,"32629A","ZNF773","chr19:58011421","c.-28G>T(exon1)","非编码区","rs12463137",0.26,0.31,0.27,0.35,0.31,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF773",1,240,"非编码区",14200,"0.5000=24/48","位于基因组单拷贝区域+DNA结构正常",374928,"19q13.43","NM_198542"]
["32629A(745)v37960",42,28,0.6667,"32629A","ZNF780A","chr19:40579842","c.*581G>C(exon6)","非编码区","rs427461",0.35,0.27,0.24,0.3,0.29,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF780A",1,240,"非编码区",14200,"0.6739=31/46","位于基因组多拷贝区域+DNA结构正常",284323,"19q13.2","NM_001010880"]
["32629A(745)v37961",109,48,0.4404,"32629A","ZNF781","chr19:38159409","c.*657C>T(exon4)","非编码区","rs8108261",0.086,0.084,0.1,0.068,0.11,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF781",1,150,"非编码区",14200,"0.4167=50/120","位于基因组多拷贝区域+DNA结构正常",163115,"19q13.12","NM_152605"]
["32629A(745)v37962",81,40,0.4938,"32629A","ZNF781","chr19:38159530","c.*536G>A(exon4)","非编码区","rs2927747",0.63,0.4,0.38,0.41,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF781",1,150,"非编码区",14200,"0.4719=42/89","位于基因组多拷贝区域+DNA结构正常",163115,"19q13.12","NM_152605"]
["32629A(745)v37963",134,58,0.4328,"32629A","ZNF781","chr19:38160383","c.667A>C(exon4)","p.I223L","rs56281742",0.086,0.084,0.1,0.068,0.11,0.099,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF781",1,150,"非同义",12220,"0.4481=69/154","位于基因组多拷贝区域+DNA结构正常",163115,"19q13.12","NM_152605"]
["32629A(745)v37964",74,41,0.5541,"32629A","ZNF782","chr9:99580199","c.*6T>C(exon6)","非编码区","rs73654606",0.19,0.22,0.2,0.24,0.22,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF782",1,140,"非编码区",14200,"0.5325=41/77","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662"]
["32629A(745)v37965",114,48,0.4211,"32629A","ZNF782","chr9:99580834","c.1471T>G(exon6)","p.S491A","rs75989782",0.033,0.096,0.081,0.11,0.098,0.11,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,4,0,"ZNF782",1,140,"非同义",12110,"0.4167=50/120","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662"]
["32629A(745)v37966",108,108,1,"32629A","ZNF782","chr9:99581811","c.494G>A(exon6)","p.R165H","rs4645656",0.27,0.32,0.29,0.35,0.32,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF782",1,140,"非同义",12220,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662"]
["32629A(745)v37967",94,94,1,"32629A","ZNF782","chr9:99581916","c.389G>C(exon6)","p.R130P","rs7870376",0.22,0.32,0.29,0.35,0.32,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF782",1,140,"非同义",12220,"1.0000=104/104","位于基因组单拷贝区域+DNA结构正常",158431,"9q22.33","NM_001001662"]
["32629A(745)v37968",38,38,1,"32629A","ZNF792","chr19:35448803","c.*57G>T(exon4)","非编码区","rs1063235",0.65,0.64,0.67,0.62,0.63,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"非编码区",14200,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872"]
["32629A(745)v37969",110,49,0.4455,"32629A","ZNF792","chr19:35449082","c.1677C>T(exon4)","p.D559D","rs3746243",0.26,0.45,0.49,0.41,0.4,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"同义",13203,"0.4417=53/120","位于基因组多拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872"]
["32629A(745)v37970",132,71,0.5379,"32629A","ZNF792","chr19:35449409","c.1350C>T(exon4)","p.H450H","rs2651081",0.33,0.19,0.18,0.21,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"同义",13203,"0.5540=77/139","位于基因组多拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872"]
["32629A(745)v37971",87,47,0.5402,"32629A","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",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"同义",13203,"0.5604=51/91","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872"]
["32629A(745)v37972",74,74,1,"32629A","ZNF792","chr19:35450229","c.530G>A(exon4)","p.R177Q","rs2651079",0.63,0.64,0.66,0.62,0.62,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"非同义",12220,"1.0000=88/88","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872"]
["32629A(745)v37973",36,36,1,"32629A","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",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"非编码区",14200,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872"]
["32629A(745)v37974",36,36,1,"32629A","ZNF792","chr19:35454605","c.-39T>C(exon1)","非编码区","rs2546029",0.64,0.65,0.67,0.63,0.62,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"非编码区",14200,"1.0000=40/40","位于基因组单拷贝区域+DNA结构正常",126375,"19q13.11","NM_175872"]
["32629A(745)v37975",116,54,0.4655,"32629A","ZNF793","chr19:38028579","c.1019G>A(exon8)","p.R340H","rs45505797",0.067,0.075,0.076,0.073,0.1,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF793",1,140,"非同义",12220,"0.4597=57/124","位于基因组单拷贝区域+DNA结构正常",390927,"19q13.12","NM_001013659"]
["32629A(745)v37976",3,3,1,"32629A","ZNF793","chr19:38031067","c.*2286T>C(exon8)","非编码区","rs4803215",0.37,0.6,0.62,0.59,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF793",1,140,"非编码区",14200,"1.0000=3/3","位于基因组多拷贝区域+DNA结构正常",390927,"19q13.12","NM_001013659"]
["32629A(745)v37977",172,76,0.4419,"32629A","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",{"$nulls":4},5,null,1,0,"ZNF799",1,250,"非同义",12220,"0.4346=83/191","位于基因组多拷贝区域+DNA结构正常",90576,"19p13.2","NM_001080821"]
["32629A(745)v37978",48,48,1,"32629A","ZNF7","chr8:146068594","c.*41T>C(exon5)","非编码区","rs1735408",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF7",1,120,"非编码区",14200,"1.0000=55/55","位于基因组单拷贝区域+DNA结构正常",7553,"8q24","NM_003416"]
["32629A(745)v37979",83,83,1,"32629A","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",{"$nulls":4},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"1.0000=94/94","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250"]
["32629A(745)v37980",72,72,1,"32629A","ZNF804A","chr2:185801747","c.1624G>A(exon4)","p.E542K","rs4667001",0.49,0.86,0.89,0.83,0.84,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19844207;23155182",{"$nulls":3},5,null,8,0,"ZNF804A",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",91752,"2q32.1","NM_194250"]
["32629A(745)v37981",71,71,1,"32629A","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",{"$nulls":4},5,null,8,0,"ZNF804A",1,110,"同义",13203,"1.0000=78/78","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250"]
["32629A(745)v37982",53,53,1,"32629A","ZNF804A","chr2:185801917","c.1794A>G(exon4)","p.K598K","rs728534",0.16,0.25,0.23,0.26,0.24,0.25,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",14681825,{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"同义",13203,"1.0000=59/59","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250"]
["32629A(745)v37983",109,109,1,"32629A","ZNF804A","chr2:185802211-185802212","c.2088(exon4)_c.2089(exon4)insACA","p.N696_T697insT","rs5836928",null,0.86,0.89,0.83,0.53,0.85,"纯合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,8,0,"ZNF804A",1,110,"非移码",2231,"1.0000=118/118","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250"]
["32629A(745)v37984",106,106,1,"32629A","ZNF804A","chr2:185802243","c.2120C>A(exon4)","p.T707K","rs1366842",0.49,0.86,0.89,0.83,0.84,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","14681825;22871346",{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250"]
["32629A(745)v37985",70,70,1,"32629A","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,{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"1.0000=74/74","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250"]
["32629A(745)v37986",50,25,0.5,"32629A","ZNF804A","chr2:185803364","c.3241C>G(exon4)","p.L1081V","rs3731834",0.15,0.21,0.2,0.21,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14681825;22871346;23155182",{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"0.4746=28/59","位于基因组单拷贝区域+DNA结构正常",91752,"2q32.1","NM_194250"]
["32629A(745)v37987",246,246,1,"32629A","ZNF804B","chr7:88956699","c.291A>G(exon3)","p.V97V","rs38971",0.31,0.69,0.67,0.7,0.66,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF804B",1,200,"同义",13203,"1.0000=288/288","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646"]
["32629A(745)v37988",111,111,1,"32629A","ZNF804B","chr7:88963039","c.743G>A(exon4)","p.C248Y","rs1916830",0.15,0.45,0.44,0.47,0.42,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20547088,{"$nulls":3},5,null,4,0,"ZNF804B",1,200,"非同义",12210,"1.0000=122/122","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646"]
["32629A(745)v37989",75,75,1,"32629A","ZNF804B","chr7:88964000","c.1704C>T(exon4)","p.F568F","rs801839",0.51,0.68,0.67,0.68,0.64,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF804B",1,200,"同义",13203,"1.0000=87/87","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646"]
["32629A(745)v37990",105,105,1,"32629A","ZNF804B","chr7:88964196","c.1900T>A(exon4)","p.F634I","rs801840",0.52,0.68,0.67,0.68,0.64,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF804B",1,200,"非同义",12220,"1.0000=113/113","位于基因组单拷贝区域+DNA结构正常",219578,"7q21.13","NM_181646"]
["32629A(745)v37991",228,164,0.7193,"32629A","ZNF806","chr2:133066879","c.157G>A(exon2)","p.G53S","rs2677610",0.22,0.16,0.17,0.16,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,39,0,"ZNF806",null,null,"非同义",12220,"0.7306=198/271","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v37992",157,90,0.5732,"32629A","ZNF806","chr2:133070449","c.182T>C(exon3)","p.V61A","rs2459647",{"$nulls":6},"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,39,0,"ZNF806",null,null,"非同义",12310,"0.5852=103/176","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v37993",211,111,0.5261,"32629A","ZNF806","chr2:133070508","c.241G>T(exon3)","p.A81S","rs7340197",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12320,"0.5410=132/244","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v37994",232,126,0.5431,"32629A","ZNF806","chr2:133070531","c.264C>T(exon3)","p.D88D","rs7340370",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,39,0,"ZNF806",null,null,"同义",13303,"0.5534=145/262","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v37995",227,122,0.5374,"32629A","ZNF806","chr2:133070556","c.289T>C(exon3)","p.F97L","rs7355766",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12320,"0.5534=140/253","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v37996",51,27,0.5294,"32629A","ZNF806","chr2:133074683","c.303T>C(exon4)","p.D101D","rs7355726",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,39,0,"ZNF806",null,null,"同义",13303,"0.5357=30/56","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v37997",65,33,0.5077,"32629A","ZNF806","chr2:133074718","c.338A>C(exon4)","p.K113T","rs4953961",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12320,"0.5139=37/72","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v37998",69,36,0.5217,"32629A","ZNF806","chr2:133074727","c.347T>G(exon4)","p.I116S","rs74763985",0.0002,0,0,0,null,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12120,"0.5263=40/76","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v37999",76,41,0.5395,"32629A","ZNF806","chr2:133074745","c.365A>T(exon4)","p.E122V","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,39,0,"ZNF806",null,null,"非同义",12320,"0.5647=48/85","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38000",80,40,0.5,"32629A","ZNF806","chr2:133074759","c.379A>C(exon4)","p.K127Q","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,39,0,"ZNF806",null,null,"非同义",12320,"0.5333=48/90","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38001",86,31,0.3605,"32629A","ZNF806","chr2:133074834","c.454C>T(exon4)","p.P152S",{"$nulls":7},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12420,"0.3299=32/97","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38002",82,32,0.3902,"32629A","ZNF806","chr2:133074851","c.471A>T(exon4)","p.V157V","rs7355688",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,39,0,"ZNF806",null,null,"同义",13303,"0.4348=40/92","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38003",77,24,0.3117,"32629A","ZNF806","chr2:133074876","c.496A>G(exon4)","p.M166V","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,39,0,"ZNF806",null,null,"非同义",12320,"0.3678=32/87","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38004",95,47,0.4947,"32629A","ZNF806","chr2:133075027","c.647G>A(exon4)","p.G216E","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,39,0,"ZNF806",null,null,"非同义",12320,"0.5048=53/105","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38005",72,20,0.2778,"32629A","ZNF806","chr2:133075069","c.689A>G(exon4)","p.H230R","rs72991565",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12320,"0.2727=21/77","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38006",65,36,0.5538,"32629A","ZNF806","chr2:133075104","c.724C>T(exon4)","p.R242C","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",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12120,"0.5538=36/65","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38007",56,32,0.5714,"32629A","ZNF806","chr2:133075207","c.827C>T(exon4)","p.A276V","rs7349365",0.0004,0,0,0,null,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12120,"0.5789=33/57","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38008",51,24,0.4706,"32629A","ZNF806","chr2:133075282","c.902T>C(exon4)","p.V301A","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,39,0,"ZNF806",null,null,"非同义",12320,"0.4808=25/52","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38009",49,21,0.4286,"32629A","ZNF806","chr2:133075298","c.918T>C(exon4)","p.H306H","rs75737268",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,39,0,"ZNF806",null,null,"同义",13303,"0.4400=22/50","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38010",55,30,0.5455,"32629A","ZNF806","chr2:133075364","c.984T>C(exon4)","p.I328I","rs7349447",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,39,0,"ZNF806",null,null,"同义",13303,"0.5469=35/64","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38011",56,31,0.5536,"32629A","ZNF806","chr2:133075365","c.985G>A(exon4)","p.V329I","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,39,0,"ZNF806",null,null,"非同义",12320,"0.5538=36/65","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38012",77,43,0.5584,"32629A","ZNF806","chr2:133075386","c.1006G>A(exon4)","p.G336R","rs7349216",{"$nulls":6},"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,39,0,"ZNF806",null,null,"非同义",12310,"0.5568=49/88","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38013",92,49,0.5326,"32629A","ZNF806","chr2:133075409","c.1029T>C(exon4)","p.H343H","rs7349448",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,39,0,"ZNF806",null,null,"同义",13303,"0.5288=55/104","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38014",136,71,0.5221,"32629A","ZNF806","chr2:133075479-133075479","c.1099(exon4)delC","p.P367Pfs*153","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,39,0,"ZNF806",null,null,"移码",2130,"0.5163=79/153","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38015",248,126,0.5081,"32629A","ZNF806","chr2:133075602","c.1222A>C(exon4)","p.R408R","rs7340473",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,39,0,"ZNF806",null,null,"同义",13303,"0.4801=133/277","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38016",246,122,0.4959,"32629A","ZNF806","chr2:133075612","c.1232C>T(exon4)","p.P411L","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,39,0,"ZNF806",null,null,"非同义",12320,"0.4640=129/278","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38017",244,123,0.5041,"32629A","ZNF806","chr2:133075615","c.1235G>C(exon4)","p.C412S","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,39,0,"ZNF806",null,null,"非同义",12320,"0.4710=130/276","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38018",218,111,0.5092,"32629A","ZNF806","chr2:133075639","c.1259G>T(exon4)","p.G420V","rs7340191",{"$nulls":6},"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,39,0,"ZNF806",null,null,"非同义",12310,"0.4776=117/245","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38019",213,106,0.4977,"32629A","ZNF806","chr2:133075664","c.1284T>G(exon4)","p.D428E","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,39,0,"ZNF806",null,null,"非同义",12320,"0.4625=111/240","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38020",205,101,0.4927,"32629A","ZNF806","chr2:133075674","c.1294G>C(exon4)","p.G432R","rs7340192",{"$nulls":6},"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,39,0,"ZNF806",null,null,"非同义",12310,"0.4565=105/230","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38021",178,83,0.4663,"32629A","ZNF806","chr2:133075726","c.1346A>G(exon4)","p.E449G","rs2598810",{"$nulls":6},"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,39,0,"ZNF806",null,null,"非同义",12310,"0.4350=87/200","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38022",157,70,0.4459,"32629A","ZNF806","chr2:133075904-133075905","c.1524(exon4)_c.1525(exon4)insA","p.N509Kfs*85","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,39,0,"ZNF806",null,null,"移码",2130,"0.4686=82/175","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38023",185,98,0.5297,"32629A","ZNF806","chr2:133076032","c.1652T>G(exon4)","p.F551C","rs2598809",{"$nulls":6},"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,39,0,"ZNF806",null,null,"非同义",12310,"0.5515=107/194","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38024",192,98,0.5104,"32629A","ZNF806","chr2:133076048","c.1668A>G(exon4)","p.A556A","rs2598808",{"$nulls":6},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,39,0,"ZNF806",null,null,"同义",13303,"0.5347=108/202","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38025",206,107,0.5194,"32629A","ZNF806","chr2:133076118-133076118","c.1738(exon4)delA","p.N580Mfs*36","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,39,0,"ZNF806",null,null,"移码",2130,"0.5367=117/218","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38026",200,101,0.505,"32629A","ZNF806","chr2:133076155","c.1775G>A(exon4)","p.C592Y","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",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12120,"0.5236=111/212","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38027",148,79,0.5338,"32629A","ZNF806","chr2:133076206","c.1826C>T(exon4)","p.A609V","rs2598807",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12320,"0.5500=88/160","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38028",134,74,0.5522,"32629A","ZNF806","chr2:133076221","c.1841G>A(exon4)","p.R614H","rs7340213",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12320,"0.5724=83/145","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38029",131,73,0.5573,"32629A","ZNF806","chr2:133076229","c.1849A>G(exon4)","p.K617E","rs2598806",{"$nulls":6},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,39,0,"ZNF806",null,null,"非同义",12320,"0.5816=82/141","位于基因组多拷贝区域+DNA结构正常",646915,"2q21.2","XM_001724242"]
["32629A(745)v38030",56,54,0.9643,"32629A","ZNF808","chr19:53059235","c.*354T>G(exon5)","非编码区","rs9676916",0.3,0.5,0.48,0.52,0.43,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF808",1,240,"非编码区",14200,"0.9683=61/63","位于基因组多拷贝区域+DNA结构正常",388558,"19q13.41","NM_001039886"]
["32629A(745)v38031",83,36,0.4337,"32629A","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,{"$nulls":3},5,null,4,0,"ZNF80",1,110,"非同义",12220,"0.4483=39/87","位于基因组单拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136"]
["32629A(745)v38032",92,39,0.4239,"32629A","ZNF80","chr3:113955265","c.657C>T(exon1)","p.C219C","rs6438190",0.69,0.56,0.59,0.53,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"同义",13203,"0.4257=43/101","位于基因组多拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136"]
["32629A(745)v38033",112,53,0.4732,"32629A","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",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"非同义",12220,"0.4453=57/128","位于基因组多拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136"]
["32629A(745)v38034",72,36,0.5,"32629A","ZNF80","chr3:113955820","c.102C>G(exon1)","p.S34S","rs3732780",0.31,0.38,0.42,0.34,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"同义",13203,"0.4353=37/85","位于基因组单拷贝区域+DNA结构正常",7634,"3q13.3","NM_007136"]
["32629A(745)v38035",553,216,0.3906,"32629A","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,13,0,"ZNF813",1,320,"同义",13303,"0.3982=262/658","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38036",557,209,0.3752,"32629A","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,13,0,"ZNF813",1,320,"同义",13303,"0.3793=253/667","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38037",546,189,0.3462,"32629A","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,13,0,"ZNF813",1,320,"同义",13303,"0.3394=223/657","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38038",500,89,0.178,"32629A","ZNF813","chr19:53990021","c.142+9A>G(exon3)","非编码区","rs201888467",{"$nulls":4},0.084,0.097,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,13,0,"ZNF813",1,320,"非编码区",16303,"0.2003=120/599","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38039",155,80,0.5161,"32629A","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",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"非同义",12220,"0.5298=89/168","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38040",229,108,0.4716,"32629A","ZNF813","chr19:53993764","c.278A>T(exon4)","p.D93V","rs12609217",0.06,0.21,0.24,0.17,0.2,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"非同义",12210,"0.4818=119/247","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38041",310,172,0.5548,"32629A","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",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"非同义",12210,"0.5470=198/362","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38042",238,108,0.4538,"32629A","ZNF813","chr19:53994178","c.692G>A(exon4)","p.R231K","rs10421308",0.092,0.11,0.095,0.13,0.096,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"非同义",12220,"0.4387=118/269","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38043",221,220,0.9955,"32629A","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",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"同义",13203,"0.9958=235/236","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38044",104,56,0.5385,"32629A","ZNF813","chr19:53995530","c.*190A>C(exon4)","非编码区","rs10402859",0.093,0.11,0.095,0.13,0.094,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"非编码区",14200,"0.5439=62/114","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38045",83,36,0.4337,"32629A","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",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"非编码区",14200,"0.4632=44/95","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38046",59,27,0.4576,"32629A","ZNF813","chr19:53996130-53996131","c.*790(exon4)_c.*791(exon4)insAT","非编码区","rs58474905",0.31,0.24,0.2,0.28,0.19,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"非编码区",2420,"0.4444=28/63","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38047",17,5,0.2941,"32629A","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",{"$nulls":4},5,null,13,0,"ZNF813",1,320,"非编码区",14200,"0.2941=5/17","位于基因组多拷贝区域+DNA结构正常",126017,"19q13.42","NM_001004301"]
["32629A(745)v38048",75,35,0.4667,"32629A","ZNF814","chr19:58383921","c.*269G>A(exon3)","非编码区","rs4801239",0.81,0.72,0.76,0.68,0.74,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF814",1,220,"非编码区",14200,"0.4881=41/84","位于基因组多拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989"]
["32629A(745)v38049",130,59,0.4538,"32629A","ZNF814","chr19:58385954","c.804A>G(exon3)","p.K268K","rs10412929",0.31,0.45,0.47,0.43,0.47,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF814",1,220,"同义",13203,"0.4830=71/147","位于基因组单拷贝区域+DNA结构正常",730051,"19q13.43","NM_001144989"]
["32629A(745)v38050",68,32,0.4706,"32629A","ZNF816","chr19:53452769","c.*303T>C(exon5)","非编码区","rs1044467",0.45,0.32,0.33,0.3,0.34,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF816",1,230,"非编码区",14200,"0.4625=37/80","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32629A(745)v38051",90,31,0.3444,"32629A","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",{"$nulls":4},5,null,7,0,"ZNF816",1,230,"非编码区",14200,"0.3300=33/100","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32629A(745)v38052",101,37,0.3663,"32629A","ZNF816","chr19:53452965","c.*107G>A(exon5)","非编码区","rs3745177",0.35,0.37,0.38,0.35,0.38,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF816",1,230,"非编码区",14200,"0.3793=44/116","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32629A(745)v38053",191,95,0.4974,"32629A","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",1,230,"同义",13303,"0.4977=106/213","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32629A(745)v38054",148,75,0.5068,"32629A","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",{"$nulls":4},2,null,7,0,"ZNF816",1,230,"非同义",12110,"0.5150=86/167","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32629A(745)v38055",181,91,0.5028,"32629A","ZNF816","chr19:53454475-53454476","c.552(exon5)_c.553(exon5)insAGT","p.I184_G185insS","rs33949217",0.47,0.21,0.24,0.17,0.37,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF816",1,230,"非移码",2222,"0.5176=103/199","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665"]
["32629A(745)v38056",136,77,0.5662,"32629A","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,{"$nulls":3},5,null,7,0,"ZNF816",1,230,"非同义",12220,"0.5743=85/148","位于基因组多拷贝区域+DNA结构正常",125893,"19q13.41","NM_001031665","rs12459008|\"Psoriasis_reduced_risk\"|24212883"]
["32629A(745)v38057",142,68,0.4789,"32629A","ZNF81","chrX:47705684","c.18C>T(exon2)","p.D6D","rs145478020",null,0.16,0.15,0.17,0.13,0.17,"杂合","未知","预测范围之外的同义突变",18414213,"智力低下45型",null,300498,4,2,1,1,"ZNF81",1,180,"同义",13303,"0.4706=72/153","位于基因组单拷贝区域+DNA结构正常",347344,"Xp11.23","NM_007137",null,"rs145478020|Benign|NA|NA|criteria provided, single submitter|PubMed:18414213"]
["32629A(745)v38058",13,8,0.6154,"32629A","ZNF823","chr19:11832283","c.*233T>C(exon4)","非编码区","rs5851",0.52,0.48,0.5,0.46,0.49,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF823",1,200,"非编码区",14200,"0.6000=9/15","位于基因组单拷贝区域+DNA结构正常",55552,"19p13.2","NM_001080493"]
["32629A(745)v38059",63,63,1,"32629A","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",{"$nulls":4},5,null,2,0,"ZNF830",1,110,"非同义",12220,"1.0000=67/67","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857"]
["32629A(745)v38060",7,7,1,"32629A","ZNF830","chr17:33289937","c.*233A>T(exon1)","非编码区","rs8249",0.55,0.84,0.86,0.83,0.79,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF830",1,110,"非编码区",14200,"1.0000=8/8","位于基因组单拷贝区域+DNA结构正常",91603,"17q12","NM_052857"]
["32629A(745)v38061",60,60,1,"32629A","ZNF831","chr20:57829301","c.4537T>C(exon5)","p.S1513P","rs259956",0.62,0.89,0.89,0.89,0.86,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF831",1,56,"非同义",12220,"1.0000=61/61","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457"]
["32629A(745)v38062",39,39,1,"32629A","ZNF831","chr20:57829821-57829822","c.*23(exon5)_c.*24(exon5)insTT","非编码区","rs528101238",0.62,0.89,0.89,0.89,0.095,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF831",1,56,"非编码区",2420,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",128611,"20q13.32","NM_178457"]
["32629A(745)v38063",71,50,0.7042,"32629A","ZNF835","chr19:57175484","c.1083T>C(exon2)","p.P361P","rs7250003",0.47,0.47,0.46,0.47,0.49,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF835",1,85,"同义",13203,"0.6667=50/75","位于基因组多拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32629A(745)v38064",65,22,0.3385,"32629A","ZNF835","chr19:57175578","c.989G>A(exon2)","p.G330D","rs12610410",0.12,0.18,0.2,0.16,0.16,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF835",1,85,"非同义",12210,"0.3803=27/71","位于基因组多拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32629A(745)v38065",90,50,0.5556,"32629A","ZNF835","chr19:57176198","c.369A>C(exon2)","p.S123S","rs8108756",0.47,0.46,0.45,0.47,0.48,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF835",1,85,"同义",13203,"0.5455=54/99","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32629A(745)v38066",81,43,0.5309,"32629A","ZNF835","chr19:57176304","c.263A>C(exon2)","p.E88A","rs12460400",0.4,0.46,0.46,0.47,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF835",1,85,"非同义",12220,"0.5217=48/92","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32629A(745)v38067",69,36,0.5217,"32629A","ZNF835","chr19:57176482","c.85G>A(exon2)","p.E29K","rs12462469",0.41,0.46,0.46,0.47,0.48,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF835",1,85,"非同义",12220,"0.4941=42/85","位于基因组单拷贝区域+DNA结构正常",90485,"19q13.43","NM_001005850"]
["32629A(745)v38068",162,77,0.4753,"32629A","ZNF836","chr19:52658510","c.2426A>G(exon5)","p.N809S","rs8113504",0.29,0.4,0.44,0.37,0.36,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF836",1,150,"非同义",12220,"0.4492=84/187","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657"]
["32629A(745)v38069",104,104,1,"32629A","ZNF836","chr19:52659991","c.945T>C(exon5)","p.Y315Y","rs1821278",0.5,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF836",1,150,"同义",13203,"1.0000=119/119","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657"]
["32629A(745)v38070",91,91,1,"32629A","ZNF836","chr19:52660279","c.657G>A(exon5)","p.M219I","rs1366245",0.48,0.59,0.6,0.58,0.57,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF836",1,150,"非同义",12220,"1.0000=100/100","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657"]
["32629A(745)v38071",76,25,0.3289,"32629A","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",{"$nulls":4},5,null,4,0,"ZNF836",1,150,"同义",13203,"0.3176=27/85","位于基因组多拷贝区域+DNA结构正常",162962,"19q13.41","NM_001102657"]
["32629A(745)v38072",22,22,1,"32629A","ZNF837","chr19:58879965","c.735T>C(exon3)","p.S245S","rs7255489",0.88,0.91,0.93,0.89,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF837",1,24,"同义",13203,"1.0000=29/29","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32629A(745)v38073",20,20,1,"32629A","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",{"$nulls":4},5,null,2,0,"ZNF837",1,24,"非同义",12220,"1.0000=27/27","位于基因组单拷贝区域+DNA结构正常",116412,"19q13.43","NM_138466"]
["32629A(745)v38074",83,83,1,"32629A","ZNF839","chr14:102808330","c.2598C>T(exon8)","p.V866V","rs12590618",0.27,0.5,0.53,0.48,0.47,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF839",0.95,86,"同义",13203,"1.0000=96/96","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_018335"]
["32629A(745)v38075",5,5,1,"32629A","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",{"$nulls":4},5,null,2,0,"ZNF839",0.95,86,"非编码区",14200,"1.0000=5/5","位于基因组单拷贝区域+DNA结构正常",55778,"14q32.31","NM_018335"]
["32629A(745)v38076",115,66,0.5739,"32629A","ZNF844","chr19:12188326","c.*390C>T(exon4)","非编码区","rs372777656",0.0002,0,0,0,0.0031,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF844",1,210,"非编码区",14100,"0.6000=78/130","位于基因组多拷贝区域+DNA结构正常",284391,"19p13.2","NM_001136501"]
["32629A(745)v38077",218,129,0.5917,"32629A","ZNF845","chr19:53854397","c.469G>C(exon4)","p.E157Q","rs10415799",0.34,0.45,0.48,0.43,0.45,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF845",1,260,"非同义",12220,"0.5808=151/260","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32629A(745)v38078",266,125,0.4699,"32629A","ZNF845","chr19:53854753","c.825T>C(exon4)","p.D275D","rs187114554",0.0002,0.0024,0,0.0049,6.3E-3,0.0037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF845",1,260,"同义",13103,"0.4818=146/303","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32629A(745)v38079",235,137,0.583,"32629A","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",{"$nulls":4},5,null,3,0,"ZNF845",1,260,"非同义",12220,"0.5923=154/260","位于基因组多拷贝区域+DNA结构正常",91664,"19q13.42","NM_138374"]
["32629A(745)v38080",264,141,0.5341,"32629A","ZNF84","chr12:133617991","c.-63G>A(exon2)","非编码区","rs7961667",{"$nulls":4},0.081,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF84",1,250,"非编码区",14300,"0.5559=174/313","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32629A(745)v38081",327,172,0.526,"32629A","ZNF84","chr12:133618022","c.-32G>A(exon2)","非编码区","rs114793246",{"$nulls":4},0.081,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF84",1,250,"非编码区",14300,"0.5417=208/384","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32629A(745)v38082",84,38,0.4524,"32629A","ZNF84","chr12:133633536","c.239-4A>G(exon5)","非编码区","rs202097614",{"$nulls":4},0.14,null,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,5,0,"ZNF84",1,250,"非编码区",16302,"0.4444=40/90","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32629A(745)v38083",169,169,1,"32629A","ZNF84","chr12:133634450","c.1149A>C(exon5)","p.A383A","rs623100",{"$nulls":4},1,null,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ZNF84",1,250,"同义",13303,"1.0000=190/190","位于基因组多拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32629A(745)v38084",40,40,1,"32629A","ZNF84","chr12:133635613","c.*95T>C(exon5)","非编码区","rs114972238",{"$nulls":4},1,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF84",1,250,"非编码区",14300,"1.0000=45/45","位于基因组单拷贝区域+DNA结构正常",7637,"12q24.33","NM_003428"]
["32629A(745)v38085",4,4,1,"32629A","ZNF850","chr19:37236504","c.*2165A>G(exon5)","非编码区","rs3108591",0.77,0.83,0.87,0.8,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF850",null,null,"非编码区",14200,"1.0000=5/5","位于基因组多拷贝区域+DNA结构正常",342892,"19q13.12","NM_001193552"]
["32629A(745)v38086",3,3,1,"32629A","ZNF850","chr19:37236581-37236582","c.*2087(exon5)_c.*2088(exon5)delTT","非编码区","rs398040988",0.75,0.83,0.87,0.8,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF850",null,null,"非编码区",2420,"1.0000=4/4","位于基因组多拷贝区域+DNA结构正常",342892,"19q13.12","NM_001193552"]
["32629A(745)v38087",2,2,1,"32629A","ZNF850","chr19:37238431","c.*238C>G(exon5)","非编码区","rs3108592",0.69,0.81,0.84,0.78,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF850",null,null,"非编码区",14200,"1.0000=2/2","位于基因组多拷贝区域+DNA结构正常",342892,"19q13.12","NM_001193552"]
["32629A(745)v38088",47,30,0.6383,"32629A","ZNF850","chr19:37241141","c.801T>C(exon5)","p.H267H","rs1673082",0.77,0.45,0.4,0.5,null,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF850",null,null,"同义",13203,"0.6038=32/53","位于基因组多拷贝区域+DNA结构正常",342892,"19q13.12","NM_001193552"]
["32629A(745)v38089",102,102,1,"32629A","ZNF852","chr3:44540792-44540793","c.1475(exon4)_c.1476(exon4)delGA","p.E493Kfs*?","rs554288350",1,1,1,1,0.12,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF852",null,null,"移码",2120,"1.0000=122/122","位于基因组多拷贝区域+DNA结构正常",285346,"3p21.31","XM_001717544"]
["32629A(745)v38090",37,14,0.3784,"32629A","ZNF853","chr7:6656830","c.22G>A(exon2)","p.G8R","rs2243563",0.74,0.76,0.76,0.76,0.75,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,58,"非同义",12220,"0.3953=17/43","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560"]
["32629A(745)v38091",37,13,0.3514,"32629A","ZNF853","chr7:6656897","c.89A>G(exon2)","p.Q30R","rs1806552",0.77,0.76,0.76,0.77,0.75,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,58,"非同义",12220,"0.3333=14/42","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560"]
["32629A(745)v38092",3,3,1,"32629A","ZNF853","chr7:6662749","c.*147T>C(exon3)","非编码区","rs2462655",0.78,0.86,0.86,0.86,0.74,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,58,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",54753,"7p22.1","NM_017560"]
["32629A(745)v38093",121,63,0.5207,"32629A","ZNF860","chr3:32030544","c.-28C>T(exon2)","非编码区","rs11129475",0.39,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非编码区",14200,"0.5319=75/141","位于基因组单拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38094",201,106,0.5274,"32629A","ZNF860","chr3:32031024","c.453C>T(exon2)","p.I151I","rs4449357",0.43,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"同义",13203,"0.5364=118/220","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38095",182,84,0.4615,"32629A","ZNF860","chr3:32031135","c.564A>G(exon2)","p.S188S","rs6419811",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"同义",13203,"0.4537=93/205","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38096",249,119,0.4779,"32629A","ZNF860","chr3:32031615","c.1044A>C(exon2)","p.E348D","rs13064905",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非同义",12220,"0.4741=128/270","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38097",249,121,0.4859,"32629A","ZNF860","chr3:32031622","c.1051T>C(exon2)","p.F351L","rs13087612",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非同义",12210,"0.4725=129/273","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38098",261,134,0.5134,"32629A","ZNF860","chr3:32031643","c.1072A>G(exon2)","p.T358A","rs13065048",0.47,0.42,0.43,0.41,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非同义",12220,"0.5000=143/286","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38099",234,126,0.5385,"32629A","ZNF860","chr3:32031852","c.1281G>A(exon2)","p.K427K","rs138977513",0.0074,0.036,0.029,0.044,0.042,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF860",1,250,"同义",13103,"0.5423=141/260","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38100",116,65,0.5603,"32629A","ZNF860","chr3:32032397","c.1826G>T(exon2)","p.R609L","rs4955216",0.43,0.28,0.27,0.29,0.28,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非同义",12220,"0.5878=77/131","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38101",6,5,0.8333,"32629A","ZNF860","chr3:32032743","c.*273T>G(exon2)","非编码区","rs13094125",0.43,0.28,0.27,0.3,0.28,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非编码区",14200,"0.8571=6/7","位于基因组多拷贝区域+DNA结构正常",344787,"3p23","NM_001137674"]
["32629A(745)v38102",47,23,0.4894,"32629A","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",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"非同义",12220,"0.5294=27/51","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32629A(745)v38103",78,34,0.4359,"32629A","ZNF862","chr7:149556518","c.1125C>T(exon6)","p.A375A","rs4725833",0.53,0.37,0.34,0.4,0.35,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"同义",13203,"0.4353=37/85","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32629A(745)v38104",96,45,0.4688,"32629A","ZNF862","chr7:149556587","c.1194G>A(exon6)","p.G398G","rs185623481",0.0022,0.019,0.014,0.024,0.017,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"ZNF862",1,77,"同义",13103,"0.4717=50/106","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32629A(745)v38105",20,8,0.4,"32629A","ZNF862","chr7:149558409","c.2160G>C(exon7)","p.L720L","rs2240361",0.38,0.33,0.33,0.33,0.33,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"同义",13203,"0.3913=9/23","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32629A(745)v38106",36,12,0.3333,"32629A","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",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"同义",13203,"0.3077=12/39","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32629A(745)v38107",58,31,0.5345,"32629A","ZNF862","chr7:149559465","c.3216C>T(exon7)","p.G1072G","rs2074701",0.44,0.33,0.33,0.33,0.32,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"同义",13203,"0.5254=31/59","位于基因组单拷贝区域+DNA结构正常",643641,"7q36.1","NM_001099220"]
["32629A(745)v38108",129,60,0.4651,"32629A","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",{"$nulls":4},5,null,2,0,"ZNF879",1,160,"非同义",12220,"0.4591=73/159","位于基因组单拷贝区域+DNA结构正常",345462,"5q35.3","NM_001136116"]
["32629A(745)v38109",151,67,0.4437,"32629A","ZNF879","chr5:178459426","c.477A>C(exon5)","p.E159D","rs17078991",0.36,0.46,0.49,0.43,0.43,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF879",1,160,"非同义",12220,"0.4343=76/175","位于基因组单拷贝区域+DNA结构正常",345462,"5q35.3","NM_001136116"]
["32629A(745)v38110",132,56,0.4242,"32629A","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",{"$nulls":4},4,null,1,0,"ZNF880",1,200,"同义",13103,"0.4085=67/164","位于基因组多拷贝区域+DNA结构正常",400713,"19q13.41","NM_001145434"]
["32629A(745)v38111",33,15,0.4545,"32629A","ZNF883","chr9:115760561","c.-22G>A(exon5)","非编码区","rs10981590",0.15,0.099,0.11,0.083,0.091,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF883",1,180,"非编码区",14200,"0.4474=17/38","位于基因组单拷贝区域+DNA结构正常",169834,"9q32","NM_001101338"]
["32629A(745)v38112",63,34,0.5397,"32629A","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,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ZNF8",1,89,"非编码区",2500,"0.5143=36/70","位于基因组单拷贝区域+DNA结构正常",7554,"19q13.43","NM_021089"]
["32629A(745)v38113",130,63,0.4846,"32629A","ZNF8","chr19:58806083","c.909T>C(exon4)","p.H303H","rs260471",0.38,0.48,0.41,0.54,0.48,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF8",1,89,"同义",13203,"0.4966=74/149","位于基因组多拷贝区域+DNA结构正常",7554,"19q13.43","NM_021089"]
["32629A(745)v38114",100,100,1,"32629A","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",{"$nulls":4},5,null,3,0,"ZNF90",1,200,"非同义",12210,"1.0000=111/111","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138"]
["32629A(745)v38115",61,61,1,"32629A","ZNF90","chr19:20230264","c.*95T>A(exon4)","非编码区","rs1654275",0.43,0.5,0.45,0.56,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF90",1,200,"非编码区",14200,"1.0000=66/66","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138"]
["32629A(745)v38116",5,5,1,"32629A","ZNF90","chr19:20230492","c.*323C>T(exon4)","非编码区","rs1627721",0.23,0.5,0.45,0.56,0.6,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF90",1,200,"非编码区",14200,"1.0000=6/6","位于基因组多拷贝区域+DNA结构正常",7643,"19p12","NM_007138"]
["32629A(745)v38117",7,7,1,"32629A","ZNF91","chr19:23541372","c.*833T>A(exon4)","非编码区","rs40561",0.62,0.81,0.8,0.81,0.83,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF91",1,160,"非编码区",14200,"1.0000=7/7","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430"]
["32629A(745)v38118",20,6,0.3,"32629A","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",{"$nulls":4},3,null,2,0,"ZNF91",1,160,"非编码区",14100,"0.2857=6/21","位于基因组多拷贝区域+DNA结构正常",7644,"19p12","NM_003430"]
["32629A(745)v38119",39,23,0.5897,"32629A","ZNF92","chr7:64864894","c.*106C>T(exon4)","非编码区","rs7796776",0.14,0.18,0.19,0.17,0.21,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF92",1,200,"非编码区",14200,"0.6444=29/45","位于基因组多拷贝区域+DNA结构正常",168374,"7q11.21","NM_152626"]
["32629A(745)v38120",220,138,0.6273,"32629A","ZNF93","chr19:20011811","c.-87T>C(exon1)","非编码区","rs7253941",0.24,0.18,0.18,0.19,0.19,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF93",1,200,"非编码区",14200,"0.6154=152/247","位于基因组多拷贝区域+DNA结构正常",81931,"19p12","NM_031218"]
["32629A(745)v38121",213,96,0.4507,"32629A","ZNF98","chr19:22575488","c.549G>A(exon4)","p.K183K","rs7247735",0.4,0.46,0.49,0.42,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,240,"同义",13203,"0.4504=109/242","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626"]
["32629A(745)v38122",534,246,0.4607,"32629A","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",{"$nulls":4},5,null,4,0,"ZNF98",1,240,"同义",13203,"0.4696=286/609","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626"]
["32629A(745)v38123",202,91,0.4505,"32629A","ZNF98","chr19:22605103","c.-77C>G(exon1)","非编码区","rs11669353",0.34,0.44,0.47,0.4,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF98",1,240,"非编码区",14200,"0.4779=108/226","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626"]
["32629A(745)v38124",169,74,0.4379,"32629A","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",{"$nulls":4},5,null,4,0,"ZNF98",1,240,"非编码区",14200,"0.4620=85/184","位于基因组多拷贝区域+DNA结构正常",148198,"19p12","NM_001098626"]
["32629A(745)v38125",75,75,1,"32629A","ZNFX1","chr20:47865372","c.4189C>T(exon14)","p.L1397L","rs238208",0.78,0.56,0.57,0.55,0.58,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,84,"同义",13203,"1.0000=82/82","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32629A(745)v38126",80,29,0.3625,"32629A","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",{"$nulls":4},5,null,5,0,"ZNFX1",1,84,"非同义",12220,"0.4157=37/89","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32629A(745)v38127",92,46,0.5,"32629A","ZNFX1","chr20:47872327","c.2804+18T>C(exon9)","非编码区","rs238220",0.61,0.47,0.47,0.48,null,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,84,"非编码区",16203,"0.5096=53/104","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32629A(745)v38128",99,48,0.4848,"32629A","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",{"$nulls":4},5,null,5,0,"ZNFX1",1,84,"非同义",12220,"0.4956=56/113","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32629A(745)v38129",59,59,1,"32629A","ZNFX1","chr20:47886684","c.1665C>T(exon3)","p.Y555Y","rs57950",0.78,0.56,0.57,0.55,0.58,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,84,"同义",13203,"1.0000=62/62","位于基因组单拷贝区域+DNA结构正常",57169,"20q13.13","NM_021035"]
["32629A(745)v38130",47,47,1,"32629A","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",{"$nulls":4},5,null,1,0,"ZNHIT2",1,21,"同义",13203,"1.0000=50/50","位于基因组单拷贝区域+DNA结构正常",741,"11q13","NM_014205"]
["32629A(745)v38131",41,41,1,"32629A","ZNHIT3","chr17:34842521","c.-23A>G(exon1)","非编码区","rs4796224",0.51,0.46,0.49,0.44,0.52,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNHIT3",1,120,"非编码区",14200,"1.0000=43/43","位于基因组单拷贝区域+DNA结构正常",9326,"17q12","NM_004773"]
["32629A(745)v38132",133,57,0.4286,"32629A","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",{"$nulls":4},5,null,2,0,"ZNHIT6",1,160,"非编码区",16202,"0.4610=71/154","位于基因组单拷贝区域+DNA结构正常",54680,"1p22.3","NM_017953"]
["32629A(745)v38133",37,37,1,"32629A","ZNHIT6","chr1:86173298","c.656+14G>A(exon1)","非编码区","rs1539444",0.44,0.46,0.47,0.45,0.49,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNHIT6",1,160,"非编码区",16203,"1.0000=39/39","位于基因组单拷贝区域+DNA结构正常",54680,"1p22.3","NM_017953"]
["32629A(745)v38134",31,31,1,"32629A","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",{"$nulls":4},5,null,1,0,"ZNRF3",0.89,46,"同义",13203,"1.0000=37/37","位于基因组单拷贝区域+DNA结构正常",84133,"22q12.1","NM_001206998"]
["32629A(745)v38135",48,21,0.4375,"32629A","ZNRF4","chr19:5455611","c.109C>T(exon1)","p.P37S","rs2240743",0.53,0.76,0.76,0.76,0.77,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,41,"非同义",12220,"0.4510=23/51","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32629A(745)v38136",34,15,0.4412,"32629A","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",{"$nulls":4},5,null,6,0,"ZNRF4",1,41,"同义",13203,"0.3947=15/38","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32629A(745)v38137",17,12,0.7059,"32629A","ZNRF4","chr19:5455971","c.469G>T(exon1)","p.A157S","rs8103406",0.54,0.76,0.75,0.77,0.78,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,41,"非同义",12220,"0.6842=13/19","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32629A(745)v38138",17,12,0.7059,"32629A","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",{"$nulls":4},5,null,6,0,"ZNRF4",1,41,"非同义",12220,"0.6842=13/19","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32629A(745)v38139",17,13,0.7647,"32629A","ZNRF4","chr19:5455990","c.488G>A(exon1)","p.R163H","rs17304380",0.19,0.4,0.37,0.42,0.44,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNRF4",1,41,"非同义",12210,"0.7500=15/20","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32629A(745)v38140",62,25,0.4032,"32629A","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",{"$nulls":4},5,null,6,0,"ZNRF4",1,41,"同义",13203,"0.4412=30/68","位于基因组单拷贝区域+DNA结构正常",148066,"19p13.3","NM_181710"]
["32629A(745)v38141",48,48,1,"32629A","ZP1","chr11:60635091","c.57T>C(exon1)","p.V19V","rs550479",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,1,4,1,"ZP1",1,64,"同义",13203,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341"]
["32629A(745)v38142",71,71,1,"32629A","ZP1","chr11:60637164","c.473C>T(exon3)","p.T158I","rs489172",0.69,0.37,0.35,0.38,0.42,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,1,4,1,"ZP1",1,64,"非同义",12210,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341"]
["32629A(745)v38143",62,28,0.4516,"32629A","ZP1","chr11:60638461","c.858C>T(exon5)","p.F286F","rs10897122",0.31,0.66,0.69,0.64,0.6,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,3,4,1,"ZP1",1,64,"同义",13203,"0.4507=32/71","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341"]
["32629A(745)v38144",63,63,1,"32629A","ZP1","chr11:60638470","c.867A>G(exon5)","p.V289V","rs566411",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"卵母细胞成熟缺陷","AR",615774,5,1,4,1,"ZP1",1,64,"同义",13203,"1.0000=72/72","位于基因组单拷贝区域+DNA结构正常",22917,"11q12.2","NM_207341"]
["32629A(745)v38145",107,55,0.514,"32629A","ZP2","chr16:21213575","c.1137C>T(exon11)","p.D379D","rs182866863",0.0006,0.0048,0.0095,0,0.0095,0.0049,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZP2",1,140,"同义",13103,"0.5041=61/121","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460"]
["32629A(745)v38146",148,59,0.3986,"32629A","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,{"$nulls":3},5,null,2,0,"ZP2",1,140,"同义",13203,"0.4104=71/173","位于基因组单拷贝区域+DNA结构正常",7783,"16p12","NM_003460"]
["32629A(745)v38147",35,18,0.5143,"32629A","ZP3","chr7:76062770","c.383-17C>A(exon5)","非编码区","rs3762031",0.11,0.12,0.11,0.14,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZP3",1,120,"非编码区",16202,"0.5135=19/37","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_007155"]
["32629A(745)v38148",106,106,1,"32629A","ZP3","chr7:76069811","c.790T>C(exon8)","p.S264P","rs2906999",0.59,0.57,0.54,0.61,0.62,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZP3",1,120,"非同义",12220,"1.0000=121/121","位于基因组多拷贝区域+DNA结构正常",7784,"7q11.23","NM_007155"]
["32629A(745)v38149",88,31,0.3523,"32629A","ZP4","chr1:238051700-238051702","c.509(exon4)_c.511(exon4)delGTT","p.C170_Y171delinsY","rs779614581",{"$nulls":5},0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"ZP4",1,150,"非移码",2233,"0.3500=35/100","位于基因组单拷贝区域+DNA结构正常",57829,"1q43","NM_021186"]
["32629A(745)v38150",90,50,0.5556,"32629A","ZPBP","chr7:50023122","c.784-7G>A(exon7)","非编码区","rs988392",0.78,0.88,0.88,0.89,0.91,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZPBP",1,180,"非编码区",16202,"0.5490=56/102","位于基因组单拷贝区域+DNA结构正常",11055,"7p14.3","NM_007009"]
["32629A(745)v38151",64,32,0.5,"32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZPBP",1,180,"非编码区",16202,"0.4730=35/74","位于基因组单拷贝区域+DNA结构正常",11055,"7p14.3","NM_007009"]
["32629A(745)v38152",84,42,0.5,"32629A","ZRANB2","chr1:71537943","c.379-5T>C(exon6)","非编码区","rs11209745",0.36,0.75,0.72,0.79,0.71,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZRANB2",1,200,"非编码区",16202,"0.4851=49/101","位于基因组单拷贝区域+DNA结构正常",9406,"1p31","NM_005455"]
["32629A(745)v38153",58,37,0.6379,"32629A","ZRANB3","chr2:135960553","c.3010-20A>T(exon20)","非编码区","rs16831434",0.06,0.055,0.062,0.049,0.049,0.052,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZRANB3",1,150,"非编码区",16202,"0.5970=40/67","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32629A(745)v38154",54,26,0.4815,"32629A","ZRANB3","chr2:135965376","c.2637A>G(exon19)","p.P879P","rs7578111",0.27,0.19,0.22,0.17,0.2,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZRANB3",1,150,"同义",13203,"0.4643=26/56","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32629A(745)v38155",149,67,0.4497,"32629A","ZRANB3","chr2:135976740","c.2259A>G(exon16)","p.K753K","rs16831460",0.06,0.055,0.062,0.049,0.049,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZRANB3",1,150,"同义",13203,"0.4364=72/165","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32629A(745)v38156",84,41,0.4881,"32629A","ZRANB3","chr2:135988127","c.1910A>T(exon13)","p.E637V","rs59900519",0.28,0.19,0.22,0.17,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZRANB3",1,150,"非同义",12220,"0.4778=43/90","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32629A(745)v38157",61,27,0.4426,"32629A","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",{"$nulls":4},5,null,6,0,"ZRANB3",1,150,"非同义",12220,"0.4286=30/70","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32629A(745)v38158",128,53,0.4141,"32629A","ZRANB3","chr2:136148401","c.162-11T>A(exon3)","非编码区","rs2043757",0.27,0.18,0.2,0.16,0.19,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZRANB3",1,150,"非编码区",16202,"0.4317=60/139","位于基因组单拷贝区域+DNA结构正常",84083,"2q21.3","NM_032143"]
["32629A(745)v38159",260,260,1,"32629A","ZRSR2","chrX:15838366","c.864C>T(exon10)","p.N288N","rs2301724",null,0.62,0.64,0.61,0.67,0.62,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZRSR2",1,220,"同义",13303,"1.0000=305/305","位于基因组单拷贝区域+DNA结构正常",8233,"Xp22.1","NM_005089"]
["32629A(745)v38160",95,41,0.4316,"32629A","ZSCAN12","chr6:28359170","c.897T>C(exon4)","p.D299D","rs2859348",0.64,0.58,0.58,0.59,0.58,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN12",1,140,"同义",13203,"0.3913=45/115","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391"]
["32629A(745)v38161",100,44,0.44,"32629A","ZSCAN12","chr6:28359186","c.881G>A(exon4)","p.R294K","rs2232430",0.11,0.26,0.32,0.19,0.21,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN12",1,140,"非同义",12220,"0.4032=50/124","位于基因组多拷贝区域+DNA结构正常",9753,"6p21","NM_001163391"]
["32629A(745)v38162",234,100,0.4274,"32629A","ZSCAN16","chr6:28097193","c.527-15G>A(exon4)","非编码区","rs4713140",0.1,0.11,0.086,0.14,0.14,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSCAN16",1,170,"非编码区",16202,"0.4432=117/264","位于基因组单拷贝区域+DNA结构正常",80345,"6p22.1","NM_025231"]
["32629A(745)v38163",38,17,0.4474,"32629A","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",{"$nulls":4},5,null,3,0,"ZSCAN18",1,40,"非编码区",16203,"0.4286=18/42","位于基因组单拷贝区域+DNA结构正常",65982,"19q13.43","NM_023926"]
["32629A(745)v38164",28,15,0.5357,"32629A","ZSCAN18","chr19:58598784","c.554-13T>C(exon4)","非编码区","rs2260914",0.75,0.6,0.57,0.63,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN18",1,40,"非编码区",16202,"0.5357=15/28","位于基因组单拷贝区域+DNA结构正常",65982,"19q13.43","NM_023926"]
["32629A(745)v38165",29,9,0.3103,"32629A","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",{"$nulls":4},5,null,3,0,"ZSCAN18",1,40,"非编码区",16203,"0.2647=9/34","位于基因组单拷贝区域+DNA结构正常",65982,"19q13.43","NM_023926"]
["32629A(745)v38166",34,15,0.4412,"32629A","ZSCAN1","chr19:58549366","c.162C>G(exon3)","p.L54L","rs159870",0.64,0.47,0.41,0.54,0.46,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN1",1,55,"同义",13203,"0.4412=15/34","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572"]
["32629A(745)v38167",11,7,0.6364,"32629A","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",{"$nulls":4},5,null,2,0,"ZSCAN1",1,55,"非编码区",16203,"0.6667=8/12","位于基因组单拷贝区域+DNA结构正常",284312,"19q13.43","NM_182572"]
["32629A(745)v38168",84,44,0.5238,"32629A","ZSCAN20","chr1:33957130","c.1272C>A(exon6)","p.A424A","rs3795419",0.19,0.38,0.37,0.39,0.37,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,120,"同义",13203,"0.5213=49/94","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238"]
["32629A(745)v38169",91,91,1,"32629A","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",{"$nulls":4},5,null,4,0,"ZSCAN20",1,120,"非同义",12230,"1.0000=97/97","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238"]
["32629A(745)v38170",185,94,0.5081,"32629A","ZSCAN20","chr1:33960062","c.2118A>G(exon8)","p.A706A","rs9943259",0.75,0.75,0.76,0.75,0.75,0.74,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,120,"同义",13203,"0.4930=105/213","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238"]
["32629A(745)v38171",33,21,0.6364,"32629A","ZSCAN20","chr1:33961147","c.*71T>G(exon8)","非编码区","rs3795420",0.75,0.75,0.76,0.75,0.75,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZSCAN20",1,120,"非编码区",14200,"0.6486=24/37","位于基因组单拷贝区域+DNA结构正常",7579,"1p34.3","NM_145238"]
["32629A(745)v38172",97,97,1,"32629A","ZSCAN21","chr7:99662512-99662515","c.*272(exon4)_c.*275(exon4)delTAGT","非编码区","rs71689664",null,0.38,0.35,0.41,0.067,0.39,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZSCAN21",1,120,"非编码区",2430,"1.0000=104/104","位于基因组单拷贝区域+DNA结构正常",7589,"7q22.1","NM_145914"]
["32629A(745)v38173",107,107,1,"32629A","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",{"$nulls":4},5,null,2,0,"ZSCAN2",1,110,"非同义",12220,"1.0000=117/117","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_017894"]
["32629A(745)v38174",122,122,1,"32629A","ZSCAN2","chr15:85163998","c.572G>C(exon3)","p.S191T","rs2044502",0.88,0.95,0.93,0.97,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN2",1,110,"非同义",12220,"1.0000=136/136","位于基因组单拷贝区域+DNA结构正常",54993,"15q25.2","NM_181877"]
["32629A(745)v38175",3,3,1,"32629A","ZSCAN30","chr18:32831386","c.*2028C>T(exon5)","非编码区","rs13298",0.2,0.17,0.14,0.2,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN30",1,130,"非编码区",14200,"1.0000=3/3","位于基因组单拷贝区域+DNA结构正常",100101467,"18q12.2","NM_001166012"]
["32629A(745)v38176",94,50,0.5319,"32629A","ZSCAN30","chr18:32834095","c.804A>G(exon5)","p.T268T","rs2289037",0.072,0.23,0.25,0.21,0.23,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN30",1,130,"同义",13203,"0.5340=55/103","位于基因组单拷贝区域+DNA结构正常",100101467,"18q12.2","NM_001166012"]
["32629A(745)v38177",88,44,0.5,"32629A","ZSCAN30","chr18:32834186","c.713A>C(exon5)","p.Q238P","rs2249769",0.11,0.23,0.25,0.21,0.23,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN30",1,130,"非同义",12220,"0.5158=49/95","位于基因组单拷贝区域+DNA结构正常",100101467,"18q12.2","NM_001166012"]
["32629A(745)v38178",99,48,0.4848,"32629A","ZSCAN4","chr19:58189287","c.402C>T(exon4)","p.H134H","rs9676604",0.16,0.26,0.29,0.24,0.26,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSCAN4",1,130,"同义",13203,"0.4679=51/109","位于基因组单拷贝区域+DNA结构正常",201516,"19q13.43","NM_152677"]
["32629A(745)v38179",143,67,0.4685,"32629A","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",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"非同义",12220,"0.4522=71/157","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456"]
["32629A(745)v38180",64,32,0.5,"32629A","ZSCAN5B","chr19:56703248","c.559C>T(exon2)","p.P187S","rs527025",0.25,0.29,0.26,0.32,0.31,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"非同义",12210,"0.5152=34/66","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456"]
["32629A(745)v38181",58,26,0.4483,"32629A","ZSCAN5B","chr19:56704101","c.321C>T(exon1)","p.N107N","rs11084427",0.21,0.29,0.26,0.32,0.27,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZSCAN5B",1,110,"同义",13203,"0.4426=27/61","位于基因组多拷贝区域+DNA结构正常",342933,"19q13.43","NM_001080456"]
["32629A(745)v38182",25,15,0.6,"32629A","ZSCAN5D","chr19:56755770","c.359G>A(exon1)","p.R120Q","rs4801693",0.48,0.5,0.51,0.48,null,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSCAN5D",null,null,"非同义",12210,"0.6071=17/28","位于基因组多拷贝区域+DNA结构正常",646698,"19q13.43","XM_001725568"]
["32629A(745)v38183",53,53,1,"32629A","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",{"$nulls":4},5,null,2,0,"ZSCAN5D",null,null,"非同义",12220,"1.0000=63/63","位于基因组多拷贝区域+DNA结构正常",646698,"19q13.43","XM_001725568"]
["32629A(745)v38184",157,83,0.5287,"32629A","ZSWIM2","chr2:187698751","c.750C>T(exon6)","p.T250T","rs7559533",0.2,0.099,0.09,0.11,0.12,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSWIM2",1,150,"同义",13203,"0.5249=95/181","位于基因组单拷贝区域+DNA结构正常",151112,"2q32.1","NM_182521"]
["32629A(745)v38185",24,12,0.5,"32629A","ZSWIM3","chr20:44507385","c.*97A>G(exon2)","非编码区","rs3746525",0.042,0.1,0.1,0.1,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ZSWIM3",1,67,"非编码区",14100,"0.4667=14/30","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752"]
["32629A(745)v38186",5,2,0.4,"32629A","ZSWIM3","chr20:44507502","c.*214C>T(exon2)","非编码区","rs3746524",0.053,0.1,0.1,0.1,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZSWIM3",1,67,"非编码区",14200,"0.4000=2/5","位于基因组单拷贝区域+DNA结构正常",140831,"20q13.12","NM_080752"]
["32629A(745)v38187",144,57,0.3958,"32629A","ZSWIM5","chr1:45504720","c.1782C>G(exon8)","p.T594T","rs7551698",0.51,0.51,0.46,0.55,0.48,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSWIM5",0.96,78,"同义",13203,"0.3931=68/173","位于基因组单拷贝区域+DNA结构正常",57643,"1p34.1","NM_020883"]
["32629A(745)v38188",105,41,0.3905,"32629A","ZSWIM6","chr5:60839907","c.3411C>A(exon14)","p.P1137P","rs16892374",0.075,0.13,0.14,0.13,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肢端额鼻骨发育不良","AD",603671,5,1,1,1,"ZSWIM6",0.98,100,"同义",13203,"0.4000=46/115","位于基因组单拷贝区域+DNA结构正常",57688,"5q12.1","NM_020928"]
["32629A(745)v38189",6,4,0.6667,"32629A","ZSWIM7","chr17:15881151","c.*210G>C(exon5)","非编码区","rs11654",0.54,0.25,0.25,0.24,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20386734,{"$nulls":3},5,null,1,0,"ZSWIM7",1,100,"非编码区",14200,"0.6667=4/6","位于基因组单拷贝区域+DNA结构正常",125150,"17p12","NM_001042697"]
["32629A(745)v38190",135,59,0.437,"32629A","ZUFSP","chr6:116973182","c.1135A>G(exon6)","p.N379D","rs4946188",0.41,0.26,0.24,0.29,0.3,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZUFSP",1,160,"非同义",12220,"0.4118=63/153","位于基因组单拷贝区域+DNA结构正常",221302,"6q22.1","NM_145062"]
["32629A(745)v38191",137,71,0.5182,"32629A","ZW10","chr11:113609079","c.1791A>G(exon13)","p.K597K","rs77970040",1.8E-3,0.017,0.0048,0.029,0.0057,0.0088,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ZW10",1,130,"同义",13103,"0.5203=77/148","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724"]
["32629A(745)v38192",111,111,1,"32629A","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",{"$nulls":4},5,null,4,0,"ZW10",1,130,"非编码区",16203,"1.0000=128/128","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724"]
["32629A(745)v38193",44,23,0.5227,"32629A","ZW10","chr11:113644336-113644336","c.53(exon1)delA","p.E18Gfs*10",{"$nulls":7},"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",{"$nulls":4},1,null,4,0,"ZW10",1,130,"移码",2140,"0.5714=28/49","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724"]
["32629A(745)v38194",42,21,0.5,"32629A","ZW10","chr11:113644339","c.50A>G(exon1)","p.K17R",{"$nulls":7},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ZW10",1,130,"非同义",12420,"0.5532=26/47","位于基因组单拷贝区域+DNA结构正常",9183,"11q23.2","NM_004724"]
["32629A(745)v38195",130,130,1,"32629A","ZWILCH","chr15:66806308","c.106-18C>T(exon3)","非编码区","rs4238406",1,0.99,1,0.99,0.99,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZWILCH",1,170,"非编码区",16202,"1.0000=149/149","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975"]
["32629A(745)v38196",61,61,1,"32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZWILCH",1,170,"非编码区",16202,"1.0000=65/65","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975"]
["32629A(745)v38197",99,55,0.5556,"32629A","ZWILCH","chr15:66821250","c.1030A>G(exon11)","p.S344G","rs11071896",0.18,0.14,0.17,0.12,0.14,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZWILCH",1,170,"非同义",12220,"0.5619=59/105","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975"]
["32629A(745)v38198",227,120,0.5286,"32629A","ZWILCH","chr15:66832466","c.1605A>G(exon17)","p.I535M","rs75532475",0.079,0.024,0.029,0.019,0.043,0.047,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZWILCH",1,170,"非同义",12220,"0.5290=137/259","位于基因组单拷贝区域+DNA结构正常",55055,"15q22.31","NM_017975"]
["32629A(745)v38199",52,52,1,"32629A","ZWINT","chr10:58118630","c.559A>G(exon6)","p.R187G","rs2241666",0.76,0.8,0.8,0.79,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,1,0,"ZWINT",1,71,"非同义",12210,"1.0000=56/56","位于基因组单拷贝区域+DNA结构正常",11130,"10q21-q22","NM_032997"]
["32629A(745)v38200",8,3,0.375,"32629A","ZXDB","chrX:57618532-57618533","c.51(exon1)_c.51(exon1)insGGCGGCGGT","p.G17_G18insGGG","rs745561157",null,6.3E-3,6.3E-3,6.3E-3,null,0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ZXDB",1,110,"非移码",2232,"0.3750=3/8","位于基因组多拷贝区域+简单重复结构",158586,"Xp11.21","NM_007157"]
["32629A(745)v38201",28,5,0.1786,"32629A","ZXDB","chrX:57618845","c.364G>A(exon1)","p.E122K","rs199513692",{"$nulls":4},0.077,0.071,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ZXDB",1,110,"非同义",12320,"0.2000=6/30","位于基因组多拷贝区域+DNA结构正常",158586,"Xp11.21","NM_007157"]
["32629A(745)v38202",34,6,0.1765,"32629A","ZXDB","chrX:57618870","c.389G>A(exon1)","p.G130D","rs189164178",{"$nulls":4},0.13,0.27,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ZXDB",1,110,"非同义",12320,"0.2162=8/37","位于基因组多拷贝区域+DNA结构正常",158586,"Xp11.21","NM_007157"]
["32629A(745)v38203",158,158,1,"32629A","ZXDB","chrX:57619648","c.1167G>T(exon1)","p.P389P","rs1057328",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ZXDB",1,110,"同义",13303,"1.0000=167/167","位于基因组多拷贝区域+DNA结构正常",158586,"Xp11.21","NM_007157"]
["32629A(745)v38204",28,28,1,"32629A","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",{"$nulls":4},5,null,2,0,"ZXDC",1,61,"非编码区",16202,"1.0000=28/28","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_001040653"]
["32629A(745)v38205",3,3,1,"32629A","ZXDC","chr3:126194357","c.352C>G(exon1)","p.P118A","rs7624748",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZXDC",1,61,"非同义",12220,"1.0000=4/4","位于基因组单拷贝区域+DNA结构正常",79364,"3q21.3","NM_001040653"]
["32629A(745)v38206",6,6,1,"32629A","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",{"$nulls":4},5,null,2,0,"ZYG11B",1,130,"非编码区",14200,"1.0000=7/7","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646"]
["32629A(745)v38207",99,99,1,"32629A","ZYG11B","chr1:53250650","c.1194G>A(exon5)","p.G398G","rs6588443",0.71,0.98,0.98,0.99,0.96,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZYG11B",1,130,"同义",13203,"1.0000=119/119","位于基因组单拷贝区域+DNA结构正常",79699,"1p32.3","NM_024646"]
["32629A(745)v38208",47,47,1,"32629A","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",{"$nulls":4},5,null,2,0,"ZZEF1",1,100,"非编码区",16202,"1.0000=48/48","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113"]
["32629A(745)v38209",2,2,1,"32629A","ZZEF1","chr17:4046101","c.89T>C(exon1)","p.V30A","rs1454121",0.8,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZZEF1",1,100,"非同义",12220,"1.0000=2/2","位于基因组单拷贝区域+DNA结构正常",23140,"17p13.2","NM_015113"]

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["突变编号","总深度A(32629xbycn1A_745)","突变深度A(32629xbycn1A_745)","突变率A(32629xbycn1A_745)","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(32629xbycn1A_745)","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"]
["32629A(745)v2",44,44,1,{"$nulls":3},"A有","32629A","A1BG","chr19:58858232-58858232","c.*156(exon8)delG","非编码区","rs3214663",0.8,0.91,0.93,0.88,0.1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"A1BG",1,42,"非编码区",2420,"1.0000=51/51",null,1,"19q13.4","NM_130786",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3",53,53,1,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,2,0,"A1BG",1,42,"非同义",12220,"1.0000=63/63",null,1,"19q13.4","NM_130786",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v12",127,60,0.47,{"$nulls":3},"A有","32629A","A2M","chr12:9232268","c.2998A>G(exon24)","p.I1000V","rs669",null,0.089,0.081,0.097,0.076,0.093,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","9811940;18191876;21122033;23186781;23238918","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,4,2,"A2M",1,170,"非同义",12320,"0.4762=70/147",null,2,"12p13.31","NM_000014","rs669|\"Alzheimer_disease_association_with\"|9811940","ILE1000VAL|Benign;risk factor|NA|OMIM:103950.0001|no assertion criteria provided|PubMed:9811940",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v12",127,60,0.47,{"$nulls":3},"A有","32629A","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",614036,3,1,4,2,"A2M",1,170,"非同义",12320,"0.4762=70/147",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"]
["32629A(745)v13",102,102,1,{"$nulls":3},"A有","32629A","A2M","chr12:9248233","c.1915A>G(exon16)","p.N639D","rs226405",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,4,2,"A2M",1,170,"非同义",12330,"1.0000=110/110",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13",102,102,1,{"$nulls":3},"A有","32629A","A2M","chr12:9248233","c.1915A>G(exon16)","p.N639D","rs226405",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,4,2,"A2M",1,170,"非同义",12330,"1.0000=110/110",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14",174,75,0.43,{"$nulls":3},"A有","32629A","A2M","chr12:9258821","c.1104+11T>C(exon10)","非编码区","rs12427063",null,0.36,0.35,0.37,0.36,0.35,"杂合","未知","内含子突变可能影响调控",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,4,1,4,2,"A2M",1,170,"非编码区",16303,"0.4444=88/198",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14",174,75,0.43,{"$nulls":3},"A有","32629A","A2M","chr12:9258821","c.1104+11T>C(exon10)","非编码区","rs12427063",null,0.36,0.35,0.37,0.36,0.35,"杂合","未知","内含子突变可能影响调控",null,"α2-巨球蛋白缺乏症","AD",614036,4,1,4,2,"A2M",1,170,"非编码区",16303,"0.4444=88/198",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15",115,48,0.42,{"$nulls":3},"A有","32629A","A2M","chr12:9268473","c.-28T>G(exon1)","非编码区","rs226380",null,0.12,0.11,0.13,0.12,0.13,"杂合","未知","UTR突变可能影响蛋白翻译",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,3,1,4,2,"A2M",1,170,"非编码区",14300,"0.4141=53/128",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15",115,48,0.42,{"$nulls":3},"A有","32629A","A2M","chr12:9268473","c.-28T>G(exon1)","非编码区","rs226380",null,0.12,0.11,0.13,0.12,0.13,"杂合","未知","UTR突变可能影响蛋白翻译",null,"α2-巨球蛋白缺乏症","AD",614036,3,1,4,2,"A2M",1,170,"非编码区",14300,"0.4141=53/128",null,2,"12p13.31","NM_000014",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4",59,26,0.44,{"$nulls":3},"A有","32629A","A2ML1","chr12:8995966","c.1476+9G>A(exon12)","非编码区","rs7136813",null,0.1,0.081,0.12,0.12,0.12,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,8,0,"A2ML1",1,120,"非编码区",16303,"0.4559=31/68",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5",74,73,0.99,{"$nulls":3},"A有","32629A","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",{"$nulls":4},4,null,8,0,"A2ML1",1,120,"同义",13303,"0.9888=88/89",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6",77,76,0.99,{"$nulls":3},"A有","32629A","A2ML1","chr12:9004892","c.2550C>A(exon20)","p.D850E","rs1860926",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"A2ML1",1,120,"非同义",12330,"0.9885=86/87",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7",42,17,0.4,{"$nulls":3},"A有","32629A","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",{"$nulls":4},4,null,8,0,"A2ML1",1,120,"同义",13303,"0.4167=20/48",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8",188,110,0.59,{"$nulls":3},"A有","32629A","A2ML1","chr12:9013755","c.3364C>T(exon28)","p.R1122W","rs1860967",null,0.83,0.83,0.83,0.79,0.78,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"A2ML1",1,120,"非同义",12320,"0.5721=119/208",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9",41,41,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},3,null,8,0,"A2ML1",1,120,"非同义",12330,"1.0000=42/42",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10",77,77,1,{"$nulls":3},"A有","32629A","A2ML1","chr12:9020489","c.3769A>G(exon30)","p.M1257V","rs7308811",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"A2ML1",1,120,"非同义",12320,"1.0000=78/78",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11",77,77,1,{"$nulls":3},"A有","32629A","A2ML1","chr12:9020912","c.4020A>G(exon31)","p.Q1340Q","rs1476910",null,0.48,0.48,0.48,0.47,0.5,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"A2ML1",1,120,"同义",13303,"1.0000=88/88",null,144568,"12p13.31","NM_144670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16",37,19,0.51,{"$nulls":3},"A有","32629A","A4GALT","chr22:43089055","c.903C>G(exon3)","p.P301P","rs6002904",0.7,0.68,0.69,0.67,0.7,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"血型, P 系统",null,111400,5,2,1,1,"A4GALT",1,42,"同义",13203,"0.5116=22/43",null,53947,"22q13.2","NM_017436",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17",11,9,0.82,{"$nulls":3},"A有","32629A","A4GNT","chr3:137843018","c.*88C>G(exon3)","非编码区","rs1564496",null,0.69,0.68,0.71,0.7,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"A4GNT",1,110,"非编码区",14300,"0.8333=10/12",null,51146,"3p14.3","NM_016161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18",44,23,0.52,{"$nulls":3},"A有","32629A","A4GNT","chr3:137843106","c.1023A>G(exon3)","p.X341X","rs2170309",0.65,0.69,0.68,0.71,0.69,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"0.5882=30/51",null,51146,"3p14.3","NM_016161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19",92,51,0.55,{"$nulls":3},"A有","32629A","A4GNT","chr3:137843476","c.653C>A(exon3)","p.A218D","rs2246945",0.65,0.69,0.68,0.71,0.69,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"非同义",12220,"0.5577=58/104",null,51146,"3p14.3","NM_016161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20",89,33,0.37,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"A4GNT",1,110,"同义",13203,"0.3542=34/96",null,51146,"3p14.3","NM_016161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21",63,63,1,{"$nulls":3},"A有","32629A","AAAS","chr12:53703021","c.855C>T(exon9)","p.F285F","rs1546808",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","弛缓不能Addison病无泪腺症综合征","AR",231550,5,1,2,1,"AAAS",1,97,"同义",13203,"1.0000=69/69",null,8086,"12q13","NM_015665",null,"rs1546808|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22",68,68,1,{"$nulls":3},"A有","32629A","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=73/73",null,8086,"12q13","NM_015665",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23",13,7,0.54,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"AACS",1,98,"非编码区",14200,"0.5714=8/14",null,65985,"12q24.31","NM_023928",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24",65,65,1,{"$nulls":3},"A有","32629A","AACS","chr12:125612839","c.1423+19G>A(exon13)","非编码区","rs900411",0.34,0.56,0.61,0.51,0.56,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"AACS",1,98,"非编码区",16203,"1.0000=75/75",null,65985,"12q24.31","NM_023928",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25",39,39,1,{"$nulls":3},"A有","32629A","AACS","chr12:125621419","c.1881+9A>G(exon17)","非编码区","rs41473449",0.37,0.55,0.57,0.53,0.55,0.56,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"AACS",1,98,"非编码区",16203,"1.0000=43/43",null,65985,"12q24.31","NM_023928",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26",4,4,1,{"$nulls":3},"A有","32629A","AACS","chr12:125627053","c.*278C>T(exon18)","非编码区","rs11058046",0.22,0.43,0.43,0.43,0.62,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"AACS",1,98,"非编码区",14200,"1.0000=4/4",null,65985,"12q24.31","NM_023928",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27",125,125,1,{"$nulls":3},"A有","32629A","AADACL2","chr3:151463421","c.556G>T(exon4)","p.A186S","rs1972977",0.71,0.62,0.68,0.57,0.62,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AADACL2",1,180,"非同义",12220,"1.0000=142/142",null,344752,"3q25.1","NM_207365",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28",16,10,0.62,{"$nulls":3},"A有","32629A","AADACL3","chr1:12776134","c.-217C>A(exon1)","非编码区","rs3010874",0.71,0.66,0.69,0.63,0.65,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.6471=11/17",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29",36,24,0.67,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.6585=27/41",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30",71,32,0.45,{"$nulls":3},"A有","32629A","AADACL3","chr1:12776344","c.-7A>T(exon1)","非编码区","rs3000859",0.66,0.66,0.69,0.63,0.65,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.4430=35/79",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v31",88,45,0.51,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"同义",13203,"0.5146=53/103",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32",93,48,0.52,{"$nulls":3},"A有","32629A","AADACL3","chr1:12779563","c.84C>T(exon2)","p.P28P","rs78912772",0.028,0.055,0.062,0.049,0.044,0.044,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,11,0,"AADACL3",1,120,"同义",13103,"0.5000=54/108",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33",112,56,0.5,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非同义",12220,"0.4961=63/127",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34",104,55,0.53,{"$nulls":3},"A有","32629A","AADACL3","chr1:12785295","c.385C>T(exon4)","p.R129W","rs17038445",0.014,0.046,0.052,0.039,0.043,0.048,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,11,0,"AADACL3",1,120,"非同义",12110,"0.5088=58/114",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35",161,76,0.47,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非同义",12210,"0.4566=79/173",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36",9,6,0.67,{"$nulls":3},"A有","32629A","AADACL3","chr1:12786070","c.*107A>G(exon4)","非编码区","rs3000930",0.76,0.79,0.8,0.78,0.84,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.6667=6/9",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37",4,3,0.75,{"$nulls":3},"A有","32629A","AADACL3","chr1:12788406","c.*2443G>A(exon4)","非编码区","rs3000929",0.83,0.79,0.8,0.79,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"AADACL3",1,120,"非编码区",14200,"0.7500=3/4",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38",4,3,0.75,{"$nulls":3},"A有","32629A","AADACL3","chr1:12788411","c.*2448C>T(exon4)","非编码区","rs59335617",0.03,0.053,0.057,0.049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"AADACL3",1,120,"非编码区",14100,"0.7500=3/4",null,126767,"1p36.21","NM_001103170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v39",156,156,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"AADAT",1,200,"非编码区",16202,"1.0000=180/180",null,51166,"4q33","NM_016228",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v40",161,49,0.3,{"$nulls":3},"A有","32629A","AADAT","chr4:170991812-170991815","c.655-12(exon6)_c.655-9(exon6)delAACC","非编码区","rs149355054",0.33,0.74,0.73,0.75,0.14,0.64,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"AADAT",1,200,"非编码区",2500,"0.3202=57/178",null,51166,"4q33","NM_016228",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v41",4,4,1,{"$nulls":3},"A有","32629A","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",1,160,"非编码区",14200,"1.0000=4/4",null,79719,"15q22.33-q23","NM_024666",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v42",4,4,1,{"$nulls":3},"A有","32629A","AAGAB","chr15:67494922","c.*237A>G(exon10)","非编码区","rs12148121",0.25,0.46,0.4,0.52,0.45,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",1,160,"非编码区",14200,"1.0000=4/4",null,79719,"15q22.33-q23","NM_024666",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v43",143,143,1,{"$nulls":3},"A有","32629A","AAGAB","chr15:67528374","c.394A>C(exon4)","p.I132L","rs7173826",0.36,0.63,0.63,0.64,0.64,0.66,"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",1,160,"非同义",12220,"1.0000=158/158",null,79719,"15q22.33-q23","NM_024666",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v44",133,60,0.45,{"$nulls":3},"A有","32629A","AAK1","chr2:69692782","c.*10219C>T(exon22)","非编码区","rs148323049",0.0002,0,0,0,0.0011,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"AAK1",1,130,"非编码区",14100,"0.4750=76/160",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v45",47,24,0.51,{"$nulls":3},"A有","32629A","AAK1","chr2:69741609","c.1770G>A(exon13)","p.E590E","rs2276689",0.32,0.52,0.53,0.51,0.51,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AAK1",1,130,"同义",13203,"0.5000=24/48",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v46",63,63,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,6,0,"AAK1",1,130,"非移码",2222,"1.0000=67/67",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v47",69,69,1,{"$nulls":3},"A有","32629A","AAK1","chr2:69741854","c.1525A>C(exon13)","p.K509Q","rs6715776",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AAK1",1,130,"非同义",12230,"1.0000=73/73",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v48",73,31,0.42,{"$nulls":3},"A有","32629A","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",{"$nulls":4},3,null,6,0,"AAK1",1,130,"非同义",12120,"0.4198=34/81",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v49",2,2,1,{"$nulls":3},"A有","32629A","AAK1","chr2:69870301","c.-129G>T(exon2)","非编码区","rs1396793",0.23,0.4,0.37,0.43,0.39,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"AAK1",1,130,"非编码区",14200,"1.0000=2/2",null,22848,"2p14","NM_014911",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v50",11,11,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"AAMP",1,61,"非编码区",14200,"1.0000=13/13",null,14,"2q35","NM_001087",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v58",56,56,1,{"$nulls":3},"A有","32629A","AARS","chr16:70287177","c.2715T>C(exon20)","p.V905V","rs4081753",0.88,0.96,0.97,0.95,0.95,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,97,"同义",13203,"1.0000=61/61",null,16,"16q22","NM_001605",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v59",52,28,0.54,{"$nulls":3},"A有","32629A","AARS","chr16:70303580","c.903C>T(exon7)","p.H301H","rs2070203",0.43,0.37,0.4,0.33,0.4,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",10393914,"恰克-马利-杜斯氏症2N型，轴索型","AD",613287,5,1,2,1,"AARS",1,97,"同义",13203,"0.4915=29/59",null,16,"16q22","NM_001605","rs2070203|\"Altered_mRNA_folding\"|10393914",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v51",8,8,1,{"$nulls":3},"A有","32629A","AARS2","chr6:44268135","c.*149G>A(exon22)","非编码区","rs325009",0.88,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,6,2,"AARS2",1,65,"非编码区",14200,"1.0000=9/9",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v51",8,8,1,{"$nulls":3},"A有","32629A","AARS2","chr6:44268135","c.*149G>A(exon22)","非编码区","rs325009",0.88,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,6,2,"AARS2",1,65,"非编码区",14200,"1.0000=9/9",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v52",41,41,1,{"$nulls":3},"A有","32629A","AARS2","chr6:44268371","c.2871A>G(exon22)","p.S957S","rs325008",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变","CLINVAR数据库","联合氧化磷酸化缺陷8型","AR",614096,4,1,6,2,"AARS2",1,65,"同义",13303,"1.0000=42/42",null,57505,"6p21.1","NM_020745",null,"rs325008|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v52",41,41,1,{"$nulls":3},"A有","32629A","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",615889,4,1,6,2,"AARS2",1,65,"同义",13303,"1.0000=42/42",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"]
["32629A(745)v53",73,73,1,{"$nulls":3},"A有","32629A","AARS2","chr6:44269023","c.2683-20A>G(exon21)","非编码区","rs325007",0.87,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,1,6,2,"AARS2",1,65,"非编码区",16202,"1.0000=78/78",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v53",73,73,1,{"$nulls":3},"A有","32629A","AARS2","chr6:44269023","c.2683-20A>G(exon21)","非编码区","rs325007",0.87,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,1,6,2,"AARS2",1,65,"非编码区",16202,"1.0000=78/78",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v54",38,16,0.42,{"$nulls":3},"A有","32629A","AARS2","chr6:44269193","c.2607G>A(exon20)","p.K869K","rs498512",0.58,0.44,0.46,0.43,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,6,2,"AARS2",1,65,"同义",13203,"0.4130=19/46",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v54",38,16,0.42,{"$nulls":3},"A有","32629A","AARS2","chr6:44269193","c.2607G>A(exon20)","p.K869K","rs498512",0.58,0.44,0.46,0.43,0.43,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,6,2,"AARS2",1,65,"同义",13203,"0.4130=19/46",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v55",52,52,1,{"$nulls":3},"A有","32629A","AARS2","chr6:44275011","c.1015A>G(exon6)","p.I339V","rs324136",0.89,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","联合氧化磷酸化缺陷8型","AR",614096,5,1,6,2,"AARS2",1,65,"非同义",12230,"1.0000=58/58",null,57505,"6p21.1","NM_020745",null,"VAL339ILE|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v55",52,52,1,{"$nulls":3},"A有","32629A","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",615889,5,1,6,2,"AARS2",1,65,"非同义",12230,"1.0000=58/58",null,57505,"6p21.1","NM_020745",null,"VAL339ILE|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"]
["32629A(745)v56",38,17,0.45,{"$nulls":3},"A有","32629A","AARS2","chr6:44280812","c.243+6G>A(exon1)","非编码区","rs167772",0.45,0.43,0.44,0.42,0.4,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"联合氧化磷酸化缺陷8型","AR",614096,5,3,6,2,"AARS2",1,65,"非编码区",16202,"0.4615=18/39",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v56",38,17,0.45,{"$nulls":3},"A有","32629A","AARS2","chr6:44280812","c.243+6G>A(exon1)","非编码区","rs167772",0.45,0.43,0.44,0.42,0.4,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"进行性脑白质病伴卵巢早衰","AR",615889,5,3,6,2,"AARS2",1,65,"非编码区",16202,"0.4615=18/39",null,57505,"6p21.1","NM_020745",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v57",87,87,1,{"$nulls":3},"A有","32629A","AARSD1","chr17:41116234","c.60C>T(exon2)","p.S20S","rs690941",0.93,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"AARSD1",1,72,"同义",13203,"1.0000=95/95",null,80755,"17q21.31","NM_001261434",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v65",227,104,0.46,{"$nulls":3},"A有","32629A","AASDH","chr4:57248716","c.278C>G(exon3)","p.P93R","rs34228795",0.065,0.18,0.21,0.16,0.22,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AASDH",1,140,"非同义",12210,"0.4612=119/258",null,132949,"4q12","NM_181806",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v68",66,34,0.52,{"$nulls":3},"A有","32629A","AATF","chr17:35346641","c.1245T>C(exon7)","p.S415S","rs1045056",0.16,0.017,0.0048,0.029,0.036,0.039,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"AATF",1,180,"同义",13203,"0.5342=39/73",null,26574,"17q12","NM_012138",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v70",74,37,0.5,{"$nulls":3},"A有","32629A","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",613163,5,3,6,1,"ABAT",1,100,"非同义",12220,"0.5185=42/81",null,18,"16p13.2","NM_000663",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v71",210,101,0.48,{"$nulls":3},"A有","32629A","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",613163,5,3,6,1,"ABAT",1,100,"非编码区",16202,"0.4870=112/230",null,18,"16p13.2","NM_000663",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v109",111,111,1,{"$nulls":3},"A有","32629A","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",205400,5,1,5,3,"ABCA1",1,130,"非同义",12220,"1.0000=122/122",null,19,"9q31.1","NM_005502","rs2230808|\"Altered_HDL_cholesterol_levels\"|15520867",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v109",111,111,1,{"$nulls":3},"A有","32629A","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,604091,5,1,5,3,"ABCA1",1,130,"非同义",12220,"1.0000=122/122",null,19,"9q31.1","NM_005502","rs2230808|\"Altered_HDL_cholesterol_levels\"|15520867",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v110",63,63,1,{"$nulls":3},"A有","32629A","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,604091,5,1,5,3,"ABCA1",1,130,"同义",13203,"1.0000=70/70",null,19,"9q31.1","NM_005502",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v111",134,58,0.43,{"$nulls":3},"A有","32629A","ABCA1","chr9:107586753","c.2649A>G(exon18)","p.I883M","rs2066714",0.36,0.74,0.74,0.74,0.73,0.72,"杂合","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",205400,5,3,5,3,"ABCA1",1,130,"非同义",12220,"0.4079=62/152",null,19,"9q31.1","NM_005502","ILE883MET|\"Tangier_disease\"|10431237",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v112",122,57,0.47,{"$nulls":3},"A有","32629A","ABCA1","chr9:107591272","c.2040C>A(exon15)","p.I680I","rs2853579",0.34,0.74,0.73,0.74,0.73,0.71,"杂合","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,604091,5,2,5,3,"ABCA1",1,130,"同义",13203,"0.4615=60/130",null,19,"9q31.1","NM_005502",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v113",102,41,0.4,{"$nulls":3},"A有","32629A","ABCA1","chr9:107620867","c.656G>A(exon7)","p.R219K","rs2230806",0.44,0.44,0.42,0.47,0.46,0.45,"杂合","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",205400,5,3,5,3,"ABCA1",1,130,"非同义",11200,"0.3981=43/108",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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["32629A(745)v104",112,51,0.46,{"$nulls":3},"A有","32629A","ABCA13","chr7:48506642","c.12905A>G(exon44)","p.Q4302R","rs4917153",0.23,0.22,0.18,0.27,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"0.4344=53/122",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v106",121,121,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非同义",12220,"1.0000=127/127",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v107",118,60,0.51,{"$nulls":3},"A有","32629A","ABCA13","chr7:48634295","c.14641-11C>A(exon58)","非编码区","rs55974693",0.14,0.16,0.14,0.18,0.17,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非编码区",16202,"0.5263=70/133",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v108",165,74,0.45,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,18,0,"ABCA13",1,130,"非编码区",16203,"0.4560=83/182",null,154664,"7p12.3","NM_152701",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v114",11,11,1,{"$nulls":3},"A有","32629A","ABCA2","chr9:139902214","c.*167T>C(exon49)","非编码区","rs10870161",0.93,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"非编码区",14200,"1.0000=11/11",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v115",75,75,1,{"$nulls":3},"A有","32629A","ABCA2","chr9:139904037","c.6690T>C(exon44)","p.L2230L","rs7048567",0.72,0.83,0.83,0.84,0.82,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"同义",13203,"1.0000=86/86",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v116",35,35,1,{"$nulls":3},"A有","32629A","ABCA2","chr9:139906359","c.5472C>T(exon35)","p.H1824H","rs2271862",0.69,0.83,0.82,0.84,0.82,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"同义",13203,"1.0000=40/40",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v117",30,14,0.47,{"$nulls":3},"A有","32629A","ABCA2","chr9:139907219","c.5026G>A(exon31)","p.G1676S","rs184422644",2.8E-3,0.012,0.014,0.0097,0.01,0.0095,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,10,0,"ABCA2",1,39,"非同义",12110,"0.4545=15/33",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v118",35,35,1,{"$nulls":3},"A有","32629A","ABCA2","chr9:139908265","c.4447+19A>G(exon28)","非编码区","rs10781531",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"非编码区",16203,"1.0000=37/37",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v119",32,20,0.62,{"$nulls":3},"A有","32629A","ABCA2","chr9:139908442","c.4289T>C(exon28)","p.L1430P",{"$nulls":5},0.00059,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,10,0,"ABCA2",1,39,"非同义",12410,"0.6286=22/35",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v120",68,68,1,{"$nulls":3},"A有","32629A","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",{"$nulls":3},5,null,10,0,"ABCA2",1,39,"同义",13203,"1.0000=82/82",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v121",36,36,1,{"$nulls":3},"A有","32629A","ABCA2","chr9:139913239","c.1751A>C(exon13)","p.H584P","rs908828",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"非同义",12230,"1.0000=42/42",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v122",20,20,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},4,null,10,0,"ABCA2",1,39,"非编码区",2500,"1.0000=24/24",null,20,"9q34","NM_001606",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v123",38,38,1,{"$nulls":3},"A有","32629A","ABCA2","chr9:139923265","c.60T>C(exon1)","p.A20A","rs4880189",0.77,0.79,0.75,0.82,0.77,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCA2",1,39,"同义",13203,"1.0000=39/39",null,20,"9q34","NM_212533",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v124",91,91,1,{"$nulls":3},"A有","32629A","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",1,71,"同义",13203,"1.0000=104/104",null,21,"16p13.3","NM_001089",null,"rs149532|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"]
["32629A(745)v125",55,30,0.55,{"$nulls":3},"A有","32629A","ABCA3","chr16:2367336","c.1059C>T(exon10)","p.F353F","rs13332514",0.19,0.38,0.39,0.37,0.36,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;18246475;18317237","肺泡蛋白沉着症3型","AR",610921,5,3,3,1,"ABCA3",1,71,"同义",13203,"0.5439=31/57",null,21,"16p13.3","NM_001089",null,"rs13332514|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v126",53,32,0.6,{"$nulls":3},"A有","32629A","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,"杂合","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",610921,5,3,3,1,"ABCA3",1,71,"非编码区",16202,"0.6038=32/53",null,21,"16p13.3","NM_001089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v127",169,169,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"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",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184",null,24,"1p22","NM_000350",null,"rs1762114|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"]
["32629A(745)v127",169,169,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斯特格病变1型","AR",248200,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184",null,24,"1p22","NM_000350",null,"rs1762114|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v127",169,169,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"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19型-AR",null,601718,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184",null,24,"1p22","NM_000350",null,"rs1762114|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"]
["32629A(745)v127",169,169,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视锥-视杆细胞营养不良3型",null,604116,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184",null,24,"1p22","NM_000350",null,"rs1762114|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v127",169,169,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471075","c.6069T>C(exon44)","p.I2023I","rs1762114",0.77,0.88,0.88,0.89,0.87,0.89,"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",613341,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=184/184",null,24,"1p22","NM_000350",null,"rs1762114|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"]
["32629A(745)v128",93,52,0.56,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年龄相关性黄斑变性2型","AD",153800,5,1,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99",null,24,"1p22","NM_000350",null,"rs4147863|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v128",93,52,0.56,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"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",248200,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99",null,24,"1p22","NM_000350",null,"rs4147863|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"]
["32629A(745)v128",93,52,0.56,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性19型-AR",null,601718,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99",null,24,"1p22","NM_000350",null,"rs4147863|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v128",93,52,0.56,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"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,604116,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99",null,24,"1p22","NM_000350",null,"rs4147863|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"]
["32629A(745)v128",93,52,0.56,{"$nulls":3},"A有","32629A","ABCA4","chr1:94471154","c.6006-16G>A(exon44)","非编码区","rs4147863",0.14,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.5455=54/99",null,24,"1p22","NM_000350",null,"rs4147863|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v129",76,29,0.38,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"年龄相关性黄斑变性2型","AD",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86",null,24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|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"]
["32629A(745)v129",76,29,0.38,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"斯特格病变1型","AR",248200,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86",null,24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v129",76,29,0.38,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"视网膜色素变性19型-AR",null,601718,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86",null,24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|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"]
["32629A(745)v129",76,29,0.38,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"视锥-视杆细胞营养不良3型",null,604116,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86",null,24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v129",76,29,0.38,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473845","c.5844A>G(exon42)","p.P1948P","rs2275029",0.17,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25884411,"青少年型视网膜色素变性-AR","AR",613341,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.4070=35/86",null,24,"1p22","NM_000350","rs2275029|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs2275029|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"]
["32629A(745)v130",69,27,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年龄相关性黄斑变性2型","AD",153800,5,1,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78",null,24,"1p22","NM_000350",null,"rs1800739|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v130",69,27,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"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",248200,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78",null,24,"1p22","NM_000350",null,"rs1800739|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"]
["32629A(745)v130",69,27,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性19型-AR",null,601718,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78",null,24,"1p22","NM_000350",null,"rs1800739|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v130",69,27,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"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,604116,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78",null,24,"1p22","NM_000350",null,"rs1800739|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"]
["32629A(745)v130",69,27,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94473864","c.5836-11G>A(exon42)","非编码区","rs1800739",0.18,0.14,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.4103=32/78",null,24,"1p22","NM_000350",null,"rs1800739|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v131",64,34,0.53,{"$nulls":3},"A有","32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"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",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71",null,24,"1p22","NM_000350",null,"rs4147857|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"]
["32629A(745)v131",64,34,0.53,{"$nulls":3},"A有","32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斯特格病变1型","AR",248200,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71",null,24,"1p22","NM_000350",null,"rs4147857|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v131",64,34,0.53,{"$nulls":3},"A有","32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"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,601718,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71",null,24,"1p22","NM_000350",null,"rs4147857|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"]
["32629A(745)v131",64,34,0.53,{"$nulls":3},"A有","32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视锥-视杆细胞营养不良3型",null,604116,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71",null,24,"1p22","NM_000350",null,"rs4147857|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v131",64,34,0.53,{"$nulls":3},"A有","32629A","ABCA4","chr1:94474328","c.5814A>G(exon41)","p.L1938L","rs4147857",0.19,0.14,0.12,0.15,0.14,0.13,"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",613341,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.5352=38/71",null,24,"1p22","NM_000350",null,"rs4147857|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"]
["32629A(745)v132",134,65,0.49,{"$nulls":3},"A有","32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","年龄相关性黄斑变性2型","AD",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159",null,24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v132",134,65,0.49,{"$nulls":3},"A有","32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","斯特格病变1型","AR",248200,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159",null,24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|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"]
["32629A(745)v132",134,65,0.49,{"$nulls":3},"A有","32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","视网膜色素变性19型-AR",null,601718,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159",null,24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v132",134,65,0.49,{"$nulls":3},"A有","32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","视锥-视杆细胞营养不良3型",null,604116,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159",null,24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|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"]
["32629A(745)v132",134,65,0.49,{"$nulls":3},"A有","32629A","ABCA4","chr1:94476388","c.5682G>C(exon40)","p.L1894L","rs1801574",0.2,0.13,0.12,0.15,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25884411;18523590","青少年型视网膜色素变性-AR","AR",613341,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.4906=78/159",null,24,"1p22","NM_000350","rs1801574|\"Chloroquine_induced_maculopathy_protection_against\"|25884411","rs1801574|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v133",113,113,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v133",113,113,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"斯特格病变1型","AR",248200,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v133",113,113,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"视网膜色素变性19型-AR",null,601718,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v133",113,113,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"视锥-视杆细胞营养不良3型",null,604116,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v133",113,113,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94487286-94487287","c.4774-17(exon34)_c.4774-16(exon34)delGT","非编码区","rs3831251",null,0.52,0.52,0.52,0.24,0.47,"纯合","未知","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"1.0000=130/130",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v134",76,42,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"年龄相关性黄斑变性2型","AD",153800,4,1,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v134",76,42,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"斯特格病变1型","AR",248200,4,3,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v134",76,42,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"视网膜色素变性19型-AR",null,601718,4,2,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v134",76,42,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"视锥-视杆细胞营养不良3型",null,604116,4,2,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v134",76,42,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94512654","c.2744-5C>T(exon19)","非编码区","rs76305791",2E-3,0.017,0.0095,0.024,0.011,0.0091,"杂合","未知","剪切位点预测结果为无害",null,"青少年型视网膜色素变性-AR","AR",613341,4,3,13,5,"ABCA4",1,110,"非编码区",16102,"0.5814=50/86",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v135",55,30,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"年龄相关性黄斑变性2型","AD",153800,4,1,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v135",55,30,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"斯特格病变1型","AR",248200,4,3,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v135",55,30,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"视网膜色素变性19型-AR",null,601718,4,2,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v135",55,30,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"视锥-视杆细胞营养不良3型",null,604116,4,2,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v135",55,30,0.55,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544135-94544136","c.1356+10(exon10)_c.1356+11(exon10)insG","非编码区","rs397762117",{"$nulls":4},0.51,0.81,"杂合","未知","内含子突变",null,"青少年型视网膜色素变性-AR","AR",613341,4,3,13,5,"ABCA4",1,110,"非编码区",2500,"0.5484=34/62",null,24,"1p22","NM_000350",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v136",130,51,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","年龄相关性黄斑变性2型","AD",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141",null,24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v136",130,51,0.39,{"$nulls":3},"A有","32629A","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",248200,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141",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"]
["32629A(745)v136",130,51,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视网膜色素变性19型-AR",null,601718,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141",null,24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v136",130,51,0.39,{"$nulls":3},"A有","32629A","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,604116,5,2,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141",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"]
["32629A(745)v136",130,51,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544233","c.1269C>T(exon10)","p.H423H","rs4147831",0.11,0.14,0.15,0.14,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","青少年型视网膜色素变性-AR","AR",613341,5,3,13,5,"ABCA4",1,110,"同义",13203,"0.3830=54/141",null,24,"1p22","NM_000350",null,"rs4147831|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v137",122,48,0.39,{"$nulls":3},"A有","32629A","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,"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",153800,5,1,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129",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"]
["32629A(745)v137",122,48,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","斯特格病变1型","AR",248200,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129",null,24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v137",122,48,0.39,{"$nulls":3},"A有","32629A","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,"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,601718,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129",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"]
["32629A(745)v137",122,48,0.39,{"$nulls":3},"A有","32629A","ABCA4","chr1:94544276","c.1240-14C>T(exon10)","非编码区","rs4147830",0.51,0.59,0.6,0.58,0.55,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","视锥-视杆细胞营养不良3型",null,604116,5,2,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129",null,24,"1p22","NM_000350",null,"rs4147830|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v137",122,48,0.39,{"$nulls":3},"A有","32629A","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,"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",613341,5,3,13,5,"ABCA4",1,110,"非编码区",16202,"0.3798=49/129",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"]
["32629A(745)v138",72,39,0.54,{"$nulls":3},"A有","32629A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"年龄相关性黄斑变性2型","AD",153800,5,1,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87",null,24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v138",72,39,0.54,{"$nulls":3},"A有","32629A","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",248200,5,3,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87",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"]
["32629A(745)v138",72,39,0.54,{"$nulls":3},"A有","32629A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"视网膜色素变性19型-AR",null,601718,5,2,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87",null,24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v138",72,39,0.54,{"$nulls":3},"A有","32629A","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,604116,5,2,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87",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"]
["32629A(745)v138",72,39,0.54,{"$nulls":3},"A有","32629A","ABCA4","chr1:94564483","c.635G>A(exon6)","p.R212H","rs6657239",0.053,0.053,0.052,0.053,0.053,0.064,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",11857735,"青少年型视网膜色素变性-AR","AR",613341,5,3,13,5,"ABCA4",1,110,"非同义","1a200","0.5402=47/87",null,24,"1p22","NM_000350","ARG212HIS|\"Macular_degeneration_age_related\"|11857735","ARG212HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA","ARG212CYS|248200|601691.0020.1","ARG212CYS|Stargardt disease 1 (STGD1) [MIM:248200]","位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v139",135,135,1,{"$nulls":3},"A有","32629A","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",153800,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145",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"]
["32629A(745)v139",135,135,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"斯特格病变1型","AR",248200,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145",null,24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v139",135,135,1,{"$nulls":3},"A有","32629A","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,601718,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145",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"]
["32629A(745)v139",135,135,1,{"$nulls":3},"A有","32629A","ABCA4","chr1:94578548","c.141A>G(exon2)","p.P47P","rs4847281",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19339744,"视锥-视杆细胞营养不良3型",null,604116,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145",null,24,"1p22","NM_000350",null,"rs4847281|Benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v139",135,135,1,{"$nulls":3},"A有","32629A","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",613341,5,1,13,5,"ABCA4",1,110,"同义",13203,"1.0000=145/145",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"]
["32629A(745)v140",240,117,0.49,{"$nulls":3},"A有","32629A","ABCA5","chr17:67257281","c.3549G>A(exon25)","p.L1183L","rs78349182",0.03,0.0048,0,0.0097,0.0031,0.0041,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ABCA5",1,200,"同义",13103,"0.5018=137/273",null,23461,"17q24.3","NM_018672",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v141",256,256,1,{"$nulls":3},"A有","32629A","ABCA5","chr17:67260926","c.3265T>C(exon23)","p.L1089L","rs12449649",0.38,0.39,0.42,0.35,0.36,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCA5",1,200,"同义",13203,"1.0000=298/298",null,23461,"17q24.3","NM_018672",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v142",172,172,1,{"$nulls":3},"A有","32629A","ABCA5","chr17:67273882","c.2494G>T(exon18)","p.A832S","rs536009",0.8,0.95,0.95,0.96,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24957074,{"$nulls":3},5,null,4,0,"ABCA5",1,200,"非同义",12220,"1.0000=202/202",null,23461,"17q24.3","NM_018672",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v143",240,121,0.5,{"$nulls":3},"A有","32629A","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",{"$nulls":4},4,null,4,0,"ABCA5",1,200,"同义",13103,"0.4982=136/273",null,23461,"17q24.3","NM_018672",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v144",146,146,1,{"$nulls":3},"A有","32629A","ABCA6","chr17:67075072","c.*42C>T(exon39)","非编码区","rs2302290",0.61,0.27,0.32,0.21,0.24,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非编码区",14200,"1.0000=155/155",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v145",114,114,1,{"$nulls":3},"A有","32629A","ABCA6","chr17:67081830","c.3965A>G(exon31)","p.N1322S","rs2302134",0.46,0.32,0.37,0.28,0.3,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非同义",12210,"1.0000=133/133",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v146",94,92,0.98,{"$nulls":3},"A有","32629A","ABCA6","chr17:67099129","c.2741-20T>C(exon21)","非编码区","rs2364315",0.43,0.27,0.32,0.21,0.24,0.27,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非编码区",16202,"0.9804=100/102",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v147",404,403,1,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,6,0,"ABCA6",1,210,"非同义",12220,"0.9958=476/478",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v148",71,71,1,{"$nulls":3},"A有","32629A","ABCA6","chr17:67109894","c.1783-16G>A(exon14)","非编码区","rs9282552",0.46,0.3,0.35,0.25,0.3,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非编码区",16202,"1.0000=85/85",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v149",299,299,1,{"$nulls":3},"A有","32629A","ABCA6","chr17:67125840","c.844G>A(exon7)","p.V282I","rs4968839",0.56,0.45,0.5,0.41,0.44,0.45,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABCA6",1,210,"非同义",12220,"1.0000=338/338",null,23460,"17q24.3","NM_080284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v150",39,39,1,{"$nulls":3},"A有","32629A","ABCA7","chr19:1042809","c.563A>G(exon7)","p.E188G","rs3764645",0.4,0.51,0.51,0.51,0.48,0.44,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非同义",12210,"1.0000=40/40",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v151",31,31,1,{"$nulls":3},"A有","32629A","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,18,0,"ABCA7",1,45,"非编码区",16303,"1.0000=35/35",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v152",24,24,1,{"$nulls":3},"A有","32629A","ABCA7","chr19:1047002","c.1824A>G(exon14)","p.A608A","rs3752234",0.58,0.8,0.81,0.78,0.77,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"1.0000=24/24",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v153",22,22,1,{"$nulls":3},"A有","32629A","ABCA7","chr19:1047161","c.1851A>G(exon15)","p.G617G","rs3752237",0.7,0.84,0.84,0.83,0.82,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"1.0000=22/22",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v154",61,61,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非编码区",16203,"1.0000=72/72",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v155",51,51,1,{"$nulls":3},"A有","32629A","ABCA7","chr19:1049305","c.2421C>A(exon18)","p.V807V","rs4147915",0.2,0.46,0.47,0.46,0.41,0.38,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"1.0000=58/58",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v156",41,18,0.44,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"0.4255=20/47",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v157",29,9,0.31,{"$nulls":3},"A有","32629A","ABCA7","chr19:1052005","c.3027C>T(exon22)","p.A1009A","rs3764652",0.38,0.39,0.39,0.39,0.37,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"0.3030=10/33",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v158",53,26,0.49,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"0.4909=27/55",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v159",25,11,0.44,{"$nulls":3},"A有","32629A","ABCA7","chr19:1055191","c.4046G>A(exon30)","p.R1349Q","rs3745842",0.39,0.39,0.39,0.39,0.37,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非同义",12220,"0.4400=11/25",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v160",63,30,0.48,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13202,"0.4627=31/67",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v161",51,51,1,{"$nulls":3},"A有","32629A","ABCA7","chr19:1056492","c.4580G>C(exon33)","p.G1527A","rs3752246",0.83,0.7,0.69,0.72,0.69,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21460841;23669301;24643655;25426068",{"$nulls":3},5,null,18,0,"ABCA7",1,45,"非同义",12220,"1.0000=59/59",null,10347,"19p13.3","NM_019112","GLY1527ALA|\"Alzheimer_disease_late-onset_association_with\"|21460841",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v162",87,48,0.55,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非编码区",16202,"0.5918=58/98",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v163",19,19,1,{"$nulls":3},"A有","32629A","ABCA7","chr19:1064193","c.5985G>A(exon45)","p.L1995L","rs4147930",0.61,0.53,0.53,0.52,0.49,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"同义",13203,"1.0000=21/21",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v164",20,19,0.95,{"$nulls":3},"A有","32629A","ABCA7","chr19:1065018","c.6133G>T(exon46)","p.A2045S","rs4147934",0.61,0.52,0.52,0.52,0.49,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非同义",12220,"0.9500=19/20",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v165",25,12,0.48,{"$nulls":3},"A有","32629A","ABCA7","chr19:1065044","c.6159C>T(exon46)","p.G2053G","rs4147935",{"$nulls":4},0.13,0.25,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,18,0,"ABCA7",1,45,"同义",13303,"0.4800=12/25",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v166",52,25,0.48,{"$nulls":3},"A有","32629A","ABCA7","chr19:1065445","c.*21C>T(exon47)","非编码区","rs766421026",{"$nulls":5},0,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,18,0,"ABCA7",1,45,"非编码区",14300,"0.4386=25/57",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v167",15,15,1,{"$nulls":3},"A有","32629A","ABCA7","chr19:1065563","c.*139G>C(exon47)","非编码区","rs2242437",0.6,0.53,0.53,0.53,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"ABCA7",1,45,"非编码区",14200,"1.0000=18/18",null,10347,"19p13.3","NM_019112",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v168",122,122,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"ABCA8",1,200,"同义",13203,"1.0000=132/132",null,10351,"17q24","NM_007168",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v169",5,2,0.4,{"$nulls":3},"A有","32629A","ABCA9","chr17:66971696-66971699","c.*357(exon39)_c.*360(exon39)delATTT","非编码区","rs150092936",0.61,0.31,0.3,0.32,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",2420,"0.4000=2/5",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v170",38,15,0.39,{"$nulls":3},"A有","32629A","ABCA9","chr17:66971879","c.*177A>G(exon39)","非编码区","rs11077859",0.41,0.31,0.3,0.32,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",14200,"0.4048=17/42",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v171",47,21,0.45,{"$nulls":3},"A有","32629A","ABCA9","chr17:66971898","c.*158G>A(exon39)","非编码区","rs11077860",0.41,0.31,0.3,0.32,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",14200,"0.4510=23/51",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v172",123,63,0.51,{"$nulls":3},"A有","32629A","ABCA9","chr17:66985992","c.3917A>C(exon30)","p.K1306T","rs2302294",0.41,0.31,0.3,0.32,0.32,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非同义",12210,"0.5255=72/137",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v173",115,58,0.5,{"$nulls":3},"A有","32629A","ABCA9","chr17:67024799","c.1505-13A>T(exon12)","非编码区","rs8066758",0.61,0.31,0.3,0.32,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",16202,"0.4769=62/130",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v174",91,52,0.57,{"$nulls":3},"A有","32629A","ABCA9","chr17:67028260","c.1434A>G(exon10)","p.K478K","rs2302291",0.41,0.24,0.22,0.26,0.24,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"同义",13203,"0.5490=56/102",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v175",189,189,1,{"$nulls":3},"A有","32629A","ABCA9","chr17:67031369","c.1128+18A>G(exon8)","非编码区","rs1860448",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非编码区",16203,"1.0000=211/211",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v176",228,228,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,8,0,"ABCA9",1,190,"非同义",12220,"1.0000=264/264",null,10350,"17q24.2","NM_080283",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v187",84,51,0.61,{"$nulls":3},"A有","32629A","ABCB1","chr7:87138645","c.3435T>C(exon27)","p.I1145I","rs1045642",null,0.66,0.7,0.62,0.61,0.62,"杂合","未知","预测范围之外的同义突变","10716719;15197162;15805193;16999857;17146660","秋水仙碱抵抗",null,120080,4,2,4,2,"ABCB1",1,180,"同义",13303,"0.5955=53/89",null,5243,"7q21.12","NM_000927","rs1045642|\"Lower_P-glycoprotein_level_association_with\"|10716719",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v187",84,51,0.61,{"$nulls":3},"A有","32629A","ABCB1","chr7:87138645","c.3435T>C(exon27)","p.I1145I","rs1045642",null,0.66,0.7,0.62,0.61,0.62,"杂合","未知","预测范围之外的同义突变","10716719;15197162;15805193;16999857;17146660","炎性肠病13型",null,612244,4,2,4,2,"ABCB1",1,180,"同义",13303,"0.5955=53/89",null,5243,"7q21.12","NM_000927","rs1045642|\"Lower_P-glycoprotein_level_association_with\"|10716719",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v188",122,60,0.49,{"$nulls":3},"A有","32629A","ABCB1","chr7:87160618","c.2677T>G(exon22)","p.S893A","rs2032582",null,0.48,0.53,0.44,0.43,0.47,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","14610718;15197162;16103896;16999857;17146660","秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,180,"非同义",12320,"0.4779=65/136",null,5243,"7q21.12","NM_000927","SER893ALA|\"Inflammatory_bowel_disease_association_with\"|14610718","SER893ALA|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v188",122,60,0.49,{"$nulls":3},"A有","32629A","ABCB1","chr7:87160618","c.2677T>G(exon22)","p.S893A","rs2032582",null,0.48,0.53,0.44,0.43,0.47,"杂合","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,612244,3,2,4,2,"ABCB1",1,180,"非同义",12320,"0.4779=65/136",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"]
["32629A(745)v189",171,77,0.45,{"$nulls":3},"A有","32629A","ABCB1","chr7:87214970","c.144G>T(exon5)","p.K48N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0047,2.8E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"秋水仙碱抵抗",null,120080,3,2,4,2,"ABCB1",1,180,"非同义",12120,"0.4508=87/193",null,5243,"7q21.12","NM_000927",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v189",171,77,0.45,{"$nulls":3},"A有","32629A","ABCB1","chr7:87214970","c.144G>T(exon5)","p.K48N","rs139583955",0.0008,0.0072,0.0048,0.0097,0.0047,2.8E-3,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"炎性肠病13型",null,612244,3,2,4,2,"ABCB1",1,180,"非同义",12120,"0.4508=87/193",null,5243,"7q21.12","NM_000927",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v190",89,89,1,{"$nulls":3},"A有","32629A","ABCB1","chr7:87229501","c.-1A>G(exon3)","非编码区","rs2214102",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20625815,"秋水仙碱抵抗",null,120080,5,1,4,2,"ABCB1",1,180,"非编码区",14200,"1.0000=102/102",null,5243,"7q21.12","NM_000927",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v190",89,89,1,{"$nulls":3},"A有","32629A","ABCB1","chr7:87229501","c.-1A>G(exon3)","非编码区","rs2214102",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20625815,"炎性肠病13型",null,612244,5,1,4,2,"ABCB1",1,180,"非编码区",14200,"1.0000=102/102",null,5243,"7q21.12","NM_000927",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v177",131,65,0.5,{"$nulls":3},"A有","32629A","ABCB10","chr1:229661711","c.1878G>T(exon10)","p.V626V",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ABCB10",0.86,100,"同义",13403,"0.4968=77/155",null,23456,"1q42.13","NM_012089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v178",93,93,1,{"$nulls":3},"A有","32629A","ABCB10","chr1:229663065-229663069","c.1646-14(exon9)_c.1646-10(exon9)delTTCCT","非编码区","rs397774139",1,1,1,1,0.11,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ABCB10",0.86,100,"非编码区",2500,"1.0000=110/110",null,23456,"1q42.13","NM_012089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v179",8,8,1,{"$nulls":3},"A有","32629A","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",601847,3,1,8,2,"ABCB11",1,140,"非编码区",14300,"1.0000=8/8",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v179",8,8,1,{"$nulls":3},"A有","32629A","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",605479,3,1,8,2,"ABCB11",1,140,"非编码区",14300,"1.0000=8/8",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v180",76,41,0.54,{"$nulls":3},"A有","32629A","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",601847,5,3,8,2,"ABCB11",1,140,"同义",13203,"0.5238=44/84",null,8647,"2q24","NM_003742","rs497692|\"Primary_biliary_cirrhosis_association_with\"|19101985",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v180",76,41,0.54,{"$nulls":3},"A有","32629A","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",605479,5,3,8,2,"ABCB11",1,140,"同义",13203,"0.5238=44/84",null,8647,"2q24","NM_003742","rs497692|\"Primary_biliary_cirrhosis_association_with\"|19101985",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v181",102,102,1,{"$nulls":3},"A有","32629A","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",601847,5,1,8,2,"ABCB11",1,140,"非编码区",16201,"1.0000=113/113",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v181",102,102,1,{"$nulls":3},"A有","32629A","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",605479,5,1,8,2,"ABCB11",1,140,"非编码区",16201,"1.0000=113/113",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v182",72,30,0.42,{"$nulls":3},"A有","32629A","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",601847,5,3,8,2,"ABCB11",1,140,"非编码区",16202,"0.4026=31/77",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v182",72,30,0.42,{"$nulls":3},"A有","32629A","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",605479,5,3,8,2,"ABCB11",1,140,"非编码区",16202,"0.4026=31/77",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v183",80,79,0.99,{"$nulls":3},"A有","32629A","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",601847,3,1,8,2,"ABCB11",1,140,"非同义",12320,"0.9892=92/93",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"]
["32629A(745)v183",80,79,0.99,{"$nulls":3},"A有","32629A","ABCB11","chr2:169830328","c.1331T>C(exon13)","p.V444A","rs2287622",null,0.67,0.67,0.67,0.71,0.73,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","17264802;18176959;18987030;22522591;24914347","良性复发性肝内胆汁淤积2型","AR",605479,3,1,8,2,"ABCB11",1,140,"非同义",12320,"0.9892=92/93",null,8647,"2q24","NM_003742","VAL444ALA|\"Cholestasis_drug-induced_association_with\"|17264802","VAL444ALA|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v184",66,66,1,{"$nulls":3},"A有","32629A","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,"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2型","AR",601847,5,1,8,2,"ABCB11",1,140,"非编码区",16202,"1.0000=73/73",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v184",66,66,1,{"$nulls":3},"A有","32629A","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,"纯合","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",605479,5,1,8,2,"ABCB11",1,140,"非编码区",16202,"1.0000=73/73",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v185",121,121,1,{"$nulls":3},"A有","32629A","ABCB11","chr2:169847412","c.807T>C(exon9)","p.Y269Y","rs2287616",0.065,0.31,0.27,0.35,0.3,0.3,"纯合","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",601847,5,1,8,2,"ABCB11",1,140,"同义",13203,"1.0000=139/139",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v185",121,121,1,{"$nulls":3},"A有","32629A","ABCB11","chr2:169847412","c.807T>C(exon9)","p.Y269Y","rs2287616",0.065,0.31,0.27,0.35,0.3,0.3,"纯合","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",605479,5,1,8,2,"ABCB11",1,140,"同义",13203,"1.0000=139/139",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v186",190,187,0.98,{"$nulls":3},"A有","32629A","ABCB11","chr2:169870855","c.108T>C(exon4)","p.D36D","rs3815675",0.063,0.3,0.26,0.34,0.3,0.3,"纯合","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",601847,5,1,8,2,"ABCB11",1,140,"同义",13203,"0.9865=219/222",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v186",190,187,0.98,{"$nulls":3},"A有","32629A","ABCB11","chr2:169870855","c.108T>C(exon4)","p.D36D","rs3815675",0.063,0.3,0.26,0.34,0.3,0.3,"纯合","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",605479,5,1,8,2,"ABCB11",1,140,"同义",13203,"0.9865=219/222",null,8647,"2q24","NM_003742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v191",71,71,1,{"$nulls":3},"A有","32629A","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",600803,5,1,3,3,"ABCB4",1,180,"非编码区",16202,"1.0000=82/82",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v191",71,71,1,{"$nulls":3},"A有","32629A","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",602347,5,1,3,3,"ABCB4",1,180,"非编码区",16202,"1.0000=82/82",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v191",71,71,1,{"$nulls":3},"A有","32629A","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",614972,5,1,3,3,"ABCB4",1,180,"非编码区",16202,"1.0000=82/82",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v192",87,87,1,{"$nulls":3},"A有","32629A","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",600803,5,1,3,3,"ABCB4",1,180,"非编码区",16203,"1.0000=96/96",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v192",87,87,1,{"$nulls":3},"A有","32629A","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",602347,5,1,3,3,"ABCB4",1,180,"非编码区",16203,"1.0000=96/96",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v192",87,87,1,{"$nulls":3},"A有","32629A","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",614972,5,1,3,3,"ABCB4",1,180,"非编码区",16203,"1.0000=96/96",null,5244,"7q21.1","NM_018849",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v193",115,48,0.42,{"$nulls":3},"A有","32629A","ABCB4","chr7:87082292","c.504C>T(exon6)","p.N168N","rs1202283",0.35,0.33,0.34,0.32,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19584064;24914347;25593501","I型胆囊疾病","AD,AR",600803,5,1,3,3,"ABCB4",1,180,"同义",13203,"0.4341=56/129",null,5244,"7q21.1","NM_018849","rs1202283|\"Intrahepatic_cholestasis_of_pregnancy_association\"|19584064","rs1202283|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"]
["32629A(745)v193",115,48,0.42,{"$nulls":3},"A有","32629A","ABCB4","chr7:87082292","c.504C>T(exon6)","p.N168N","rs1202283",0.35,0.33,0.34,0.32,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19584064;24914347;25593501","进行性家族性肝内胆汁瘀积3型","AR",602347,5,3,3,3,"ABCB4",1,180,"同义",13203,"0.4341=56/129",null,5244,"7q21.1","NM_018849","rs1202283|\"Intrahepatic_cholestasis_of_pregnancy_association\"|19584064","rs1202283|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v193",115,48,0.42,{"$nulls":3},"A有","32629A","ABCB4","chr7:87082292","c.504C>T(exon6)","p.N168N","rs1202283",0.35,0.33,0.34,0.32,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19584064;24914347;25593501","妊娠期肝内胆汁淤积3型","AD,AR",614972,5,1,3,3,"ABCB4",1,180,"同义",13203,"0.4341=56/129",null,5244,"7q21.1","NM_018849","rs1202283|\"Intrahepatic_cholestasis_of_pregnancy_association\"|19584064","rs1202283|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"]
["32629A(745)v194",204,103,0.5,{"$nulls":3},"A有","32629A","ABCB5","chr7:20666235","c.108+1G>C(exon3)","剪切位点","rs17143187",0.15,0.45,0.43,0.46,0.51,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23352160,{"$nulls":3},5,null,10,0,"ABCB5",1,180,"剪切位点",16204,"0.4934=112/227",null,340273,"7p21.1","NM_001163941","rs17143187|\"Autism_spectrum_disorder\"|23352160",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v195",232,106,0.46,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,10,0,"ABCB5",1,180,"非同义",12210,"0.4615=120/260",null,340273,"7p21.1","NM_001163941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v196",198,103,0.52,{"$nulls":3},"A有","32629A","ABCB5","chr7:20685508","c.803+5T>G(exon8)","非编码区","rs11983326",0.32,0.16,0.16,0.15,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"非编码区",16202,"0.5273=116/220",null,340273,"7p21.1","NM_001163941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v197",115,50,0.43,{"$nulls":3},"A有","32629A","ABCB5","chr7:20698270","c.1678A>G(exon14)","p.K560E","rs2301641",0.36,0.16,0.17,0.16,0.19,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23770371;21298007",{"$nulls":3},5,null,10,0,"ABCB5",1,180,"非同义",12220,"0.4207=61/145",null,340273,"7p21.1","NM_001163941","LYS560GLU|\"Melanoma_reduced_risk_association_with\"|23770371;rs2301641|\"Melanoma_reduced_risk_association_with\"|23770371",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v198",11,11,1,{"$nulls":3},"A有","32629A","ABCB5","chr7:20706645","c.*255G>T(exon6)","非编码区","rs12535128",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"非编码区",14200,"1.0000=12/12",null,340273,"7p21.1","NM_001163993",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v199",4,4,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"非编码区",14200,"1.0000=4/4",null,340273,"7p21.1","NM_001163993",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v200",315,315,1,{"$nulls":3},"A有","32629A","ABCB5","chr7:20762646","c.2429G>T(exon21)","p.G810V","rs62453384",0.23,0.21,0.24,0.18,0.2,0.2,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21298007,{"$nulls":3},5,null,10,0,"ABCB5",1,180,"非同义",12210,"1.0000=360/360",null,340273,"7p21.1","NM_001163941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v201",122,57,0.47,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"同义",13203,"0.4662=62/133",null,340273,"7p21.1","NM_001163941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v202",89,89,1,{"$nulls":3},"A有","32629A","ABCB5","chr7:20778646","c.2908G>A(exon24)","p.E970K","rs6461515",0.76,0.85,0.84,0.86,0.84,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21298007,{"$nulls":3},5,null,10,0,"ABCB5",1,180,"非同义",12220,"1.0000=102/102",null,340273,"7p21.1","NM_001163941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v203",61,61,1,{"$nulls":3},"A有","32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ABCB5",1,180,"非编码区",16203,"1.0000=68/68",null,340273,"7p21.1","NM_001163941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v204",33,33,1,{"$nulls":3},"A有","32629A","ABCB6","chr2:220083279","c.117G>A(exon1)","p.L39L","rs1109866",0.74,0.84,0.83,0.84,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Langereis血型系统",null,111600,5,1,2,3,"ABCB6",1,73,"同义",13203,"1.0000=39/39",null,10058,"2q36","NM_005689",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v204",33,33,1,{"$nulls":3},"A有","32629A","ABCB6","chr2:220083279","c.117G>A(exon1)","p.L39L","rs1109866",0.74,0.84,0.83,0.84,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"孤立性小眼畸形伴眼缺损7型","AD",614497,5,1,2,3,"ABCB6",1,73,"同义",13203,"1.0000=39/39",null,10058,"2q36","NM_005689",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v204",33,33,1,{"$nulls":3},"A有","32629A","ABCB6","chr2:220083279","c.117G>A(exon1)","p.L39L","rs1109866",0.74,0.84,0.83,0.84,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"泛发性色素异常症3","AD",615402,5,1,2,3,"ABCB6",1,73,"同义",13203,"1.0000=39/39",null,10058,"2q36","NM_005689",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v205",4,4,1,{"$nulls":3},"A有","32629A","ABCB6","chr2:220083453","c.-58C>A(exon1)","非编码区","rs1109867",0.74,0.84,0.83,0.84,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17847007,"Langereis血型系统",null,111600,5,1,2,3,"ABCB6",1,73,"非编码区",14200,"1.0000=6/6",null,10058,"2q36","NM_005689",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v205",4,4,1,{"$nulls":3},"A有","32629A","ABCB6","chr2:220083453","c.-58C>A(exon1)","非编码区","rs1109867",0.74,0.84,0.83,0.84,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17847007,"孤立性小眼畸形伴眼缺损7型","AD",614497,5,1,2,3,"ABCB6",1,73,"非编码区",14200,"1.0000=6/6",null,10058,"2q36","NM_005689",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v205",4,4,1,{"$nulls":3},"A有","32629A","ABCB6","chr2:220083453","c.-58C>A(exon1)","非编码区","rs1109867",0.74,0.84,0.83,0.84,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17847007,"泛发性色素异常症3","AD",615402,5,1,2,3,"ABCB6",1,73,"非编码区",14200,"1.0000=6/6",null,10058,"2q36","NM_005689",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v206",143,143,1,{"$nulls":3},"A有","32629A","ABCB7","chrX:74334687","c.169-18A>G(exon2)","非编码区","rs4148837",null,0.91,0.89,0.92,null,0.93,"纯合","未知","剪切位点预测结果为无害",null,"X连锁铁粒幼细胞贫血伴脊髓小脑共济失调","XR",301310,4,1,1,1,"ABCB7",1,220,"非编码区",16302,"1.0000=169/169",null,22,"Xq13.3","NM_004299",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v207",33,16,0.48,{"$nulls":3},"A有","32629A","ABCB8","chr7:150731698","c.659+12C>T(exon4)","非编码区","rs2303924",0.13,0.24,0.22,0.25,0.26,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCB8",1,51,"非编码区",16203,"0.5278=19/36",null,11194,"7q36","NM_007188",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v208",60,28,0.47,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ABCB8",1,51,"同义",13203,"0.4308=28/65",null,11194,"7q36","NM_007188",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v209",11,7,0.64,{"$nulls":3},"A有","32629A","ABCB9","chr12:123414349","c.*109A>G(exon12)","非编码区","rs2270788",0.3,0.22,0.2,0.25,0.23,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23382691,{"$nulls":3},5,null,1,0,"ABCB9",0.99,53,"非编码区",14200,"0.6364=7/11",null,23457,"12q24","NM_019625",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v213",50,25,0.5,{"$nulls":3},"A有","32629A","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,5,0,"ABCC1",0.99,78,"非同义",12410,"0.4815=26/54",null,4363,"16p13.1","NM_004996",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v214",47,20,0.43,{"$nulls":3},"A有","32629A","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",{"$nulls":3},5,null,5,0,"ABCC1",0.99,78,"同义",13203,"0.4107=23/56",null,4363,"16p13.1","NM_004996",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v215",38,27,0.71,{"$nulls":3},"A有","32629A","ABCC1","chr16:16173227","c.2007C>T(exon16)","p.P669P","rs2301666",0.0058,0.031,0.029,0.034,0.025,0.026,"杂合","未知","预测范围之外的同义突变",16684361,{"$nulls":3},4,null,5,0,"ABCC1",0.99,78,"同义",13103,"0.6512=28/43",null,4363,"16p13.1","NM_004996",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v216",43,43,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ABCC1",0.99,78,"非编码区",16203,"1.0000=50/50",null,4363,"16p13.1","NM_004996",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v217",40,24,0.6,{"$nulls":3},"A有","32629A","ABCC1","chr16:16232202-16232202","c.4293-19(exon30)delT","非编码区","rs45587033",null,0.51,0.55,0.47,0.073,0.44,"杂合","未知","内含子突变",{"$nulls":4},4,null,5,0,"ABCC1",0.99,78,"非编码区",2500,"0.5957=28/47",null,4363,"16p13.1","NM_004996",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v210",62,62,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"ABCC10",0.96,62,"非编码区",14200,"1.0000=71/71",null,89845,"6p21.1","NM_033450",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v211",54,54,1,{"$nulls":3},"A有","32629A","ABCC11","chr16:48258198","c.538G>A(exon4)","p.G180R","rs17822931",0.3,0.91,0.84,0.97,0.94,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19710689;16444273;16255080;17394018;18037328","顶浆分泌腺变异","AD",117800,5,1,1,1,"ABCC11",1,120,"非同义",11200,"1.0000=58/58",null,85320,"16q12.1","NM_033151","GLY180ARG|\"Earwax_type_association_with\"|16444273","GLY180ARG|Benign|OMIM:117800|OMIM:607040.0001|no assertion criteria provided|PubMed:19710689","GLY180ARG|117800|607040.0001.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v212",133,133,1,{"$nulls":3},"A有","32629A","ABCC12","chr16:48122582","c.3349C>T(exon24)","p.R1117C","rs7193955",0.59,0.89,0.88,0.91,0.87,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCC12",1,120,"非同义",12210,"1.0000=155/155",null,94160,"16q12.1","NM_033226",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v218",104,48,0.46,{"$nulls":3},"A有","32629A","ABCC2","chr10:101542578","c.-24C>T(exon1)","非编码区","rs717620",0.13,0.23,0.22,0.23,0.19,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19415824;17997497;18926681;19568750;20061166","杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,3,3,1,"ABCC2",1,130,"非编码区",14200,"0.4583=55/120",null,1244,"10q24","NM_000392","rs717620|\"Non-response_to_antiepilepsy_medication_in_epileptics_association\"|19415824",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v219",126,126,1,{"$nulls":3},"A有","32629A","ABCC2","chr10:101544447","c.116A>T(exon2)","p.Y39F","rs927344",0.99,1,1,1,0.96,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,1,3,1,"ABCC2",1,130,"非同义",12230,"1.0000=145/145",null,1244,"10q24","NM_000392",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v220",84,38,0.45,{"$nulls":3},"A有","32629A","ABCC2","chr10:101604207","c.3972C>T(exon28)","p.I1324I","rs3740066",0.29,0.25,0.26,0.25,0.19,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17997497;18395921;18926681;19568750;22630058","杜宾约翰逊综合征/Dubin-Johnson综合征/遗传性结合型胆红素增高症1型","AR",237500,5,3,3,1,"ABCC2",1,130,"同义",13203,"0.4624=43/93",null,1244,"10q24","NM_000392","rs3740066|\"Intrahepatic_cholestasis_of_pregnancy_association_with\"|17997497","rs3740066|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v221",34,17,0.5,{"$nulls":3},"A有","32629A","ABCC3","chr17:48753423","c.3039C>T(exon22)","p.G1013G","rs4148416",0.14,0.14,0.19,0.1,0.12,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17267408;24996541",{"$nulls":3},5,null,2,0,"ABCC3",1,74,"同义",13203,"0.5000=19/38",null,8714,"17q22","NM_003786",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v222",83,41,0.49,{"$nulls":3},"A有","32629A","ABCC3","chr17:48761105","c.3942C>T(exon27)","p.H1314H","rs2277624",0.29,0.23,0.26,0.2,0.22,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCC3",1,74,"同义",13203,"0.5248=53/101",null,8714,"17q22","NM_003786",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v223",4,2,0.5,{"$nulls":3},"A有","32629A","ABCC4","chr13:95673518","c.*311A>G(exon31)","非编码区","rs4148551",0.49,0.51,0.51,0.5,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ABCC4",0.99,150,"非编码区",14200,"0.5000=2/4",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v224",148,76,0.51,{"$nulls":3},"A有","32629A","ABCC4","chr13:95673791","c.*38T>G(exon31)","非编码区","rs3742106",0.41,0.51,0.51,0.5,0.49,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;25426075",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"非编码区",14200,"0.5205=89/171",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v225",103,100,0.97,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"非编码区",16202,"0.9727=107/110",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v226",141,75,0.53,{"$nulls":3},"A有","32629A","ABCC4","chr13:95714976","c.3348G>A(exon26)","p.K1116K","rs1751034",0.79,0.81,0.82,0.81,0.77,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;24944790;25426075",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.5153=84/163",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v227",147,80,0.54,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.5301=88/166",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v228",123,66,0.54,{"$nulls":3},"A有","32629A","ABCC4","chr13:95727780","c.2712A>G(exon22)","p.L904L","rs1678339",0.89,0.82,0.83,0.81,0.79,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18364470,{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.5149=69/134",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v229",66,29,0.44,{"$nulls":3},"A有","32629A","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",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.4430=35/79",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v230",57,24,0.42,{"$nulls":3},"A有","32629A","ABCC4","chr13:95858996","c.951A>G(exon8)","p.R317R","rs2274406",0.52,0.53,0.5,0.55,0.55,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;25426075",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.4179=28/67",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v231",37,21,0.57,{"$nulls":3},"A有","32629A","ABCC4","chr13:95859035","c.912G>T(exon8)","p.K304N","rs2274407",0.15,0.15,0.16,0.14,0.14,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;24991206;25426075",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"非同义",12220,"0.5854=24/41",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v232",83,46,0.55,{"$nulls":3},"A有","32629A","ABCC4","chr13:95861804","c.669T>C(exon6)","p.I223I","rs899494",0.81,0.78,0.8,0.77,0.78,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18364470;25426075",{"$nulls":3},5,null,13,0,"ABCC4",0.99,150,"同义",13203,"0.5778=52/90",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v233",83,38,0.46,{"$nulls":3},"A有","32629A","ABCC4","chr13:95886854","c.531+10A>G(exon4)","非编码区","rs11568637",0.036,0.11,0.12,0.097,0.069,0.087,"杂合","未知","内含子突变可能影响调控",18364470,{"$nulls":3},4,null,13,0,"ABCC4",0.99,150,"非编码区",16103,"0.4444=40/90",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v234",79,42,0.53,{"$nulls":3},"A有","32629A","ABCC4","chr13:95899889","c.185+8G>A(exon2)","非编码区","rs763815541",{"$nulls":4},0.00052,0.0012,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,13,0,"ABCC4",0.99,150,"非编码区",16303,"0.5412=46/85",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v235",14,6,0.43,{"$nulls":3},"A有","32629A","ABCC4","chr13:95953617","c.-49C>T(exon1)","非编码区","rs3751333",0.036,0.11,0.11,0.097,0.073,0.1,"杂合","未知","UTR突变可能影响蛋白翻译",18364470,{"$nulls":3},3,null,13,0,"ABCC4",0.99,150,"非编码区",14100,"0.4000=6/15",null,10257,"13q32","NM_005845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v236",99,99,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=109/109",null,10057,"3q27","NM_005688",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v237",211,211,1,{"$nulls":3},"A有","32629A","ABCC5","chr3:183685534","c.1782T>C(exon12)","p.C594C","rs939336",0.69,0.85,0.87,0.82,0.84,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","14507663;24924344",{"$nulls":3},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=234/234",null,10057,"3q27","NM_005688",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v238",114,114,1,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,3,0,"ABCC5",1,110,"同义",13203,"1.0000=125/125",null,10057,"3q27","NM_005688",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v239",41,24,0.59,{"$nulls":3},"A有","32629A","ABCC6","chr16:16255437","c.3507-16T>C(exon25)","非编码区","rs3213471",0.071,0.062,0.057,0.068,0.063,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",12384774,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,80,"非编码区",16202,"0.5682=25/44",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v239",41,24,0.59,{"$nulls":3},"A有","32629A","ABCC6","chr16:16255437","c.3507-16T>C(exon25)","非编码区","rs3213471",0.071,0.062,0.057,0.068,0.063,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",12384774,"弹性纤维假黄瘤","AR",264800,5,3,5,3,"ABCC6",1,80,"非编码区",16202,"0.5682=25/44",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v239",41,24,0.59,{"$nulls":3},"A有","32629A","ABCC6","chr16:16255437","c.3507-16T>C(exon25)","非编码区","rs3213471",0.071,0.062,0.057,0.068,0.063,0.075,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",12384774,"婴儿期广泛性动脉钙化2型","AR",614473,5,3,5,3,"ABCC6",1,80,"非编码区",16202,"0.5682=25/44",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v240",57,57,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,80,"非同义",12230,"1.0000=64/64",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v240",57,57,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,80,"非同义",12230,"1.0000=64/64",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v240",57,57,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16271357","c.2542A>G(exon19)","p.M848V","rs6416668",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,80,"非同义",12230,"1.0000=64/64",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v241",46,46,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,80,"同义",13203,"1.0000=47/47",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v241",46,46,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,80,"同义",13203,"1.0000=47/47",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v241",46,46,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16272670","c.2400A>G(exon18)","p.G800G","rs7500834",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,80,"同义",13203,"1.0000=47/47",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v242",37,37,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"早期弹性纤维假黄瘤","AD",177850,5,1,5,3,"ABCC6",1,80,"非编码区",16203,"1.0000=46/46",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v242",37,37,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"弹性纤维假黄瘤","AR",264800,5,1,5,3,"ABCC6",1,80,"非编码区",16203,"1.0000=46/46",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v242",37,37,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16291858","c.1338+20C>G(exon10)","非编码区","rs12929920",0.73,0.92,0.91,0.92,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",16086317,"婴儿期广泛性动脉钙化2型","AR",614473,5,1,5,3,"ABCC6",1,80,"非编码区",16203,"1.0000=46/46",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v243",43,43,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"早期弹性纤维假黄瘤","AD",177850,4,1,5,3,"ABCC6",1,80,"非编码区",16303,"1.0000=55/55",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v243",43,43,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"弹性纤维假黄瘤","AR",264800,4,1,5,3,"ABCC6",1,80,"非编码区",16303,"1.0000=55/55",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v243",43,43,1,{"$nulls":3},"A有","32629A","ABCC6","chr16:16291871","c.1338+7C>G(exon10)","非编码区","rs9940089",null,0.95,0.94,0.97,0.95,0.95,"纯合","未知","内含子突变可能影响调控",16086317,"婴儿期广泛性动脉钙化2型","AR",614473,4,1,5,3,"ABCC6",1,80,"非编码区",16303,"1.0000=55/55",null,368,"16p13.1","NM_001171",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v244",38,15,0.39,{"$nulls":3},"A有","32629A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42",null,6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v244",38,15,0.39,{"$nulls":3},"A有","32629A","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",240800,5,1,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42",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"]
["32629A(745)v244",38,15,0.39,{"$nulls":3},"A有","32629A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42",null,6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v244",38,15,0.39,{"$nulls":3},"A有","32629A","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",606176,5,1,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42",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"]
["32629A(745)v244",38,15,0.39,{"$nulls":3},"A有","32629A","ABCC8","chr11:17418477","c.4105G>T(exon33)","p.A1369S","rs757110",0.73,0.6,0.58,0.61,0.6,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","11117432;16642433;17903298;18599530;19641380","新生儿暂时性糖尿病2型",null,610374,5,2,6,5,"ABCC8",1,95,"非同义",12220,"0.3810=16/42",null,6833,"11p15.1","NM_000352","rs757110|\"Enhanced_insulin_secretion_in_pregnancy_association\"|11117432","ALA1369SER|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v245",62,32,0.52,{"$nulls":3},"A有","32629A","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",125853,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67",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"]
["32629A(745)v245",62,32,0.52,{"$nulls":3},"A有","32629A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67",null,6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v245",62,32,0.52,{"$nulls":3},"A有","32629A","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",256450,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67",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"]
["32629A(745)v245",62,32,0.52,{"$nulls":3},"A有","32629A","ABCC8","chr11:17419279","c.3819G>A(exon31)","p.R1273R","rs1799859",0.39,0.099,0.1,0.092,0.11,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",9799081,"新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67",null,6833,"11p15.1","NM_000352","rs1799859|\"Hyperinsulinaemia_association_with\"|9799081","rs1799859|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v245",62,32,0.52,{"$nulls":3},"A有","32629A","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,610374,5,2,6,5,"ABCC8",1,95,"同义",13203,"0.4925=33/67",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"]
["32629A(745)v246",55,55,1,{"$nulls":3},"A有","32629A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60",null,6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v246",55,55,1,{"$nulls":3},"A有","32629A","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",240800,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60",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"]
["32629A(745)v246",55,55,1,{"$nulls":3},"A有","32629A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60",null,6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v246",55,55,1,{"$nulls":3},"A有","32629A","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",606176,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60",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"]
["32629A(745)v246",55,55,1,{"$nulls":3},"A有","32629A","ABCC8","chr11:17429922","c.2820+17A>G(exon23)","非编码区","rs2106865",0.61,0.75,0.75,0.75,0.71,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿暂时性糖尿病2型",null,610374,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"1.0000=60/60",null,6833,"11p15.1","NM_000352",null,"rs2106865|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v247",41,19,0.46,{"$nulls":3},"A有","32629A","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",125853,5,1,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44",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"]
["32629A(745)v247",41,19,0.46,{"$nulls":3},"A有","32629A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44",null,6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v247",41,19,0.46,{"$nulls":3},"A有","32629A","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",256450,5,1,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44",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"]
["32629A(745)v247",41,19,0.46,{"$nulls":3},"A有","32629A","ABCC8","chr11:17448704","c.2117-3C>T(exon16)","非编码区","rs1799854",0.37,0.57,0.58,0.55,0.58,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8635661;16873704;18599530;19498446;20079163","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44",null,6833,"11p15.1","NM_000352","rs1799854|\"Diabetes_mellitus_2_association_with\"|8635661","rs1799854|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v247",41,19,0.46,{"$nulls":3},"A有","32629A","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,610374,5,2,6,5,"ABCC8",1,95,"非编码区",16202,"0.4773=21/44",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"]
["32629A(745)v248",110,65,0.59,{"$nulls":3},"A有","32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118",null,6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v248",110,65,0.59,{"$nulls":3},"A有","32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"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",240800,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118",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"]
["32629A(745)v248",110,65,0.59,{"$nulls":3},"A有","32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性高胰岛素低血糖症1型/胰岛细胞增生症","AD,AR",256450,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118",null,6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v248",110,65,0.59,{"$nulls":3},"A有","32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"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",606176,5,1,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118",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"]
["32629A(745)v248",110,65,0.59,{"$nulls":3},"A有","32629A","ABCC8","chr11:17452492","c.1686C>T(exon12)","p.H562H","rs1799857",0.43,0.28,0.27,0.29,0.3,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿暂时性糖尿病2型",null,610374,5,2,6,5,"ABCC8",1,95,"同义",13203,"0.5932=70/118",null,6833,"11p15.1","NM_000352",null,"rs1799857|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v249",48,25,0.52,{"$nulls":3},"A有","32629A","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",125853,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56",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"]
["32629A(745)v249",48,25,0.52,{"$nulls":3},"A有","32629A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","亮氨酸敏感性婴幼儿低血糖","AD",240800,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56",null,6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v249",48,25,0.52,{"$nulls":3},"A有","32629A","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",256450,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56",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"]
["32629A(745)v249",48,25,0.52,{"$nulls":3},"A有","32629A","ABCC8","chr11:17484971","c.579+14C>T(exon4)","非编码区","rs2301703",0.47,0.4,0.42,0.37,0.38,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿永久性糖尿病/DEND综合征","AD",606176,5,1,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56",null,6833,"11p15.1","NM_000352",null,"rs2301703|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v249",48,25,0.52,{"$nulls":3},"A有","32629A","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,610374,5,2,6,5,"ABCC8",1,95,"非编码区",16203,"0.5179=29/56",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"]
["32629A(745)v250",189,189,1,{"$nulls":3},"A有","32629A","ABCC9","chr12:22017422","c.2199-11T>C(exon17)","非编码区","rs697250",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,200,"非编码区",16202,"1.0000=215/215",null,10060,"12p12.1","NM_020297",null,"rs697250|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v250",189,189,1,{"$nulls":3},"A有","32629A","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",1,200,"非编码区",16202,"1.0000=215/215",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"]
["32629A(745)v250",189,189,1,{"$nulls":3},"A有","32629A","ABCC9","chr12:22017422","c.2199-11T>C(exon17)","非编码区","rs697250",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,200,"非编码区",16202,"1.0000=215/215",null,10060,"12p12.1","NM_020297",null,"rs697250|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v251",190,190,1,{"$nulls":3},"A有","32629A","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",1,200,"同义",13203,"1.0000=230/230",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"]
["32629A(745)v251",190,190,1,{"$nulls":3},"A有","32629A","ABCC9","chr12:22063115","c.1296T>C(exon8)","p.P432P","rs10770865",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,1,4,3,"ABCC9",1,200,"同义",13203,"1.0000=230/230",null,10060,"12p12.1","NM_020297",null,"rs10770865|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v251",190,190,1,{"$nulls":3},"A有","32629A","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",1,200,"同义",13203,"1.0000=230/230",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"]
["32629A(745)v252",152,152,1,{"$nulls":3},"A有","32629A","ABCC9","chr12:22063749","c.1164+11A>G(exon7)","非编码区","rs4762720",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"多毛性骨软骨发育不良","AD",239850,5,1,4,3,"ABCC9",1,200,"非编码区",16203,"1.0000=170/170",null,10060,"12p12.1","NM_020297",null,"rs4762720|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v252",152,152,1,{"$nulls":3},"A有","32629A","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",1,200,"非编码区",16203,"1.0000=170/170",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"]
["32629A(745)v252",152,152,1,{"$nulls":3},"A有","32629A","ABCC9","chr12:22063749","c.1164+11A>G(exon7)","非编码区","rs4762720",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性房颤12型","AD",614050,5,1,4,3,"ABCC9",1,200,"非编码区",16203,"1.0000=170/170",null,10060,"12p12.1","NM_020297",null,"rs4762720|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v253",70,31,0.44,{"$nulls":3},"A有","32629A","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",1,200,"非编码区",16201,"0.4342=33/76",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"]
["32629A(745)v253",70,31,0.44,{"$nulls":3},"A有","32629A","ABCC9","chr12:22068849","c.574-5C>A(exon5)","非编码区","rs3759236",0.64,0.78,0.76,0.79,0.77,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1O型",null,608569,5,2,4,3,"ABCC9",1,200,"非编码区",16201,"0.4342=33/76",null,10060,"12p12.1","NM_020297",null,"rs3759236|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v253",70,31,0.44,{"$nulls":3},"A有","32629A","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",1,200,"非编码区",16201,"0.4342=33/76",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"]
["32629A(745)v254",27,11,0.41,{"$nulls":3},"A有","32629A","ABCD1","chrX:152994677","c.901-10C>T(exon2)","非编码区","rs2269365",null,0.057,0.013,0.1,0.062,0.034,"杂合","未知","剪切位点预测结果为无害",null,"X连锁肾上腺脑白质营养不良","XR",300100,4,3,2,1,"ABCD1",1,62,"非编码区",16302,"0.3438=11/32",null,215,"Xq28","NM_000033",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v255",13,5,0.38,{"$nulls":3},"A有","32629A","ABCD1","chrX:153009197","c.*8G>C(exon10)","非编码区","rs2229539",null,0.59,0.59,0.58,0.46,0.65,"杂合","未知","UTR突变可能影响蛋白翻译",23757202,"X连锁肾上腺脑白质营养不良","XR",300100,3,3,2,1,"ABCD1",1,62,"非编码区",14300,"0.3571=5/14",null,215,"Xq28","NM_000033",null,"rs2229539|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v256",2,2,1,{"$nulls":3},"A有","32629A","ABCD2","chr12:39947308","c.*406C>T(exon10)","非编码区","rs4294600",0.11,0.14,0.12,0.16,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCD2",1,170,"非编码区",14200,"1.0000=2/2",null,225,"12q12","NM_005164",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v257",11,3,0.27,{"$nulls":3},"A有","32629A","ABCD3","chr1:94883995","c.-40C>T(exon1)","非编码区","rs4148058",0.053,0.15,0.16,0.13,0.17,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCD3",1,250,"非编码区",14200,"0.2727=3/11",null,5825,"1p21.3","NM_002858",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v258",152,69,0.45,{"$nulls":3},"A有","32629A","ABCD3","chr1:94972207","c.1845+9G>A(exon21)","非编码区","rs192519676",0.0006,0.0048,0.0048,0.0049,4.3E-3,0.0049,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"ABCD3",1,250,"非编码区",16103,"0.4524=76/168",null,5825,"1p21.3","NM_002858",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v259",78,37,0.47,{"$nulls":3},"A有","32629A","ABCD3","chr1:94982785","c.*100A>T(exon23)","非编码区","rs662813",0.28,0.35,0.39,0.31,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCD3",1,250,"非编码区",14200,"0.4659=41/88",null,5825,"1p21.3","NM_002858",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v260",73,35,0.48,{"$nulls":3},"A有","32629A","ABCD3","chr1:94982810","c.*125A>G(exon23)","非编码区","rs337592",0.11,0.12,0.14,0.092,0.095,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCD3",1,250,"非编码区",14200,"0.4815=39/81",null,5825,"1p21.3","NM_002858",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v261",4,2,0.5,{"$nulls":3},"A有","32629A","ABCD4","chr14:74752902","c.*262T>G(exon19)","非编码区","rs2466",0.26,0.52,0.56,0.49,0.25,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甲基丙二酸尿症和高胱氨酸尿 cblJ型","AR",614857,5,3,1,1,"ABCD4",1,87,"非编码区",14200,"0.5000=2/4",null,5826,"14q24.3","NM_005050",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v262",152,152,1,{"$nulls":3},"A有","32629A","ABCE1","chr4:146046138","c.1641-4T>C(exon17)","非编码区","rs4835203",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABCE1",1,230,"非编码区",16202,"1.0000=174/174",null,6059,"4q31","NM_002940",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v263",44,44,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ABCF2",1,71,"同义",13203,"1.0000=47/47",null,10061,"7q36","NM_007189",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v264",82,82,1,{"$nulls":3},"A有","32629A","ABCF2","chr7:150921950","c.279T>C(exon3)","p.L93L","rs6464133",0.74,0.9,0.91,0.88,0.89,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABCF2",1,71,"同义",13203,"1.0000=91/91",null,10061,"7q36","NM_007189",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v265",32,18,0.56,{"$nulls":3},"A有","32629A","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",{"$nulls":4},3,null,3,0,"ABCF3",1,88,"非编码区",2430,"0.5455=18/33",null,55324,"3q27.1","NM_018358",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v266",74,29,0.39,{"$nulls":3},"A有","32629A","ABCF3","chr3:183904049","c.54A>G(exon1)","p.Q18Q","rs11539876",0.17,0.32,0.36,0.29,0.28,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABCF3",1,88,"同义",13203,"0.3875=31/80",null,55324,"3q27.1","NM_018358",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v267",72,40,0.56,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ABCF3",1,88,"非编码区",16202,"0.5185=42/81",null,55324,"3q27.1","NM_018358",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v268",57,32,0.56,{"$nulls":3},"A有","32629A","ABCG1","chr21:43640066","c.-16C>G(exon1)","非编码区","rs9975490",0.16,0.26,0.25,0.27,0.25,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABCG1",0.99,82,"非编码区",14200,"0.5645=35/62",null,9619,"21q22.3","NM_207174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v269",58,36,0.62,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"ABCG1",0.99,82,"非编码区",16203,"0.6230=38/61",null,9619,"21q22.3","NM_207174",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v270",80,40,0.5,{"$nulls":3},"A有","32629A","ABCG1","chr21:43708431-43708432","c.1230+9(exon11)_c.1230+10(exon11)insC","非编码区","rs2234720",{"$nulls":4},0.29,0.32,"杂合","未知","内含子突变",{"$nulls":4},4,null,4,0,"ABCG1",0.99,82,"非编码区",2500,"0.5057=44/87",null,9619,"21q22.3","NM_207627",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v271",8,2,0.25,{"$nulls":3},"A有","32629A","ABCG1","chr21:43716647","c.*145C>T(exon16)","非编码区","rs371391053",0.0004,0.0024,0.0048,0,1.5E-3,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,4,0,"ABCG1",0.99,82,"非编码区",14100,"0.2500=2/8",null,9619,"21q22.3","NM_207627",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v272",129,129,1,{"$nulls":3},"A有","32629A","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",1,160,"非编码区",16203,"1.0000=141/141",null,9429,"4q22","NM_004827",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v272",129,129,1,{"$nulls":3},"A有","32629A","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",1,160,"非编码区",16203,"1.0000=141/141",null,9429,"4q22","NM_004827",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v273",83,27,0.33,{"$nulls":3},"A有","32629A","ABCG2","chr4:89052323","c.421C>A(exon5)","p.Q141K","rs2231142",0.12,0.28,0.26,0.31,0.3,0.3,"杂合","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",1,160,"非同义",11200,"0.3069=31/101",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"]
["32629A(745)v273",83,27,0.33,{"$nulls":3},"A有","32629A","ABCG2","chr4:89052323","c.421C>A(exon5)","p.Q141K","rs2231142",0.12,0.28,0.26,0.31,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20368174;18834626;18547414;19474294;19503597","血型JUNIOR系统",null,614490,5,2,2,2,"ABCG2",1,160,"非同义",11200,"0.3069=31/101",null,9429,"4q22","NM_004827","GLN141LYS|\"Gout_association_with\"|18834626","GLN141LYS|association|OMIM:138900|OMIM:603756.0007|no assertion criteria provided|PubMed:20368174","GLN141LYS|138900|603756.0007.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v274",24,24,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},3,null,1,0,"ABCG4",1,63,"非编码区",2430,"1.0000=27/27",null,64137,"11q23.3","NM_022169",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v275",77,77,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44066174","c.-19T>G(exon1)","非编码区","rs3806471",0.49,0.86,0.86,0.85,0.82,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16507104;19005228","谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,77,"非编码区",14200,"1.0000=95/95",null,64241,"2p21","NM_022437",null,"rs3806471|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v275",77,77,1,{"$nulls":3},"A有","32629A","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",1,77,"非编码区",14200,"1.0000=95/95",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"]
["32629A(745)v276",51,51,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44071639","c.64-7C>T(exon2)","非编码区","rs4148210",0.52,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,77,"非编码区",16202,"1.0000=53/53",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v276",51,51,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44071639","c.64-7C>T(exon2)","非编码区","rs4148210",0.52,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,77,"非编码区",16202,"1.0000=53/53",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v277",46,46,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44071743","c.161A>G(exon2)","p.Y54C","rs4148211",0.43,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17827468;15996216;19005228;20170916","谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,77,"非同义",12210,"1.0000=49/49",null,64241,"2p21","NM_022437","TYR54CYS|\"Smaller_decline_in_cholesterol_synthesis_after_weight_loss\"|17827468",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v277",46,46,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44071743","c.161A>G(exon2)","p.Y54C","rs4148211",0.43,0.87,0.87,0.87,0.85,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17827468;15996216;19005228;20170916","胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,77,"非同义",12210,"1.0000=49/49",null,64241,"2p21","NM_022437","TYR54CYS|\"Smaller_decline_in_cholesterol_synthesis_after_weight_loss\"|17827468",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v278",76,37,0.49,{"$nulls":3},"A有","32629A","ABCG8","chr2:44101537-44101538","c.1412-9(exon10)_c.1412-8(exon10)insT","非编码区","rs138296512",null,0.34,0.35,0.32,0.4,0.32,"杂合","未知","内含子突变",null,"谷甾醇血症","AR",210250,4,3,6,2,"ABCG8",1,77,"非编码区",2500,"0.4938=40/81",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v278",76,37,0.49,{"$nulls":3},"A有","32629A","ABCG8","chr2:44101537-44101538","c.1412-9(exon10)_c.1412-8(exon10)insT","非编码区","rs138296512",null,0.34,0.35,0.32,0.4,0.32,"杂合","未知","内含子突变",null,"胆囊病4型",null,611465,4,2,6,2,"ABCG8",1,77,"非编码区",2500,"0.4938=40/81",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v279",80,80,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44101538","c.1412-8C>T(exon10)","非编码区","rs28517482",0.76,0.97,0.97,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"谷甾醇血症","AR",210250,5,1,6,2,"ABCG8",1,77,"非编码区",16202,"1.0000=85/85",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v279",80,80,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44101538","c.1412-8C>T(exon10)","非编码区","rs28517482",0.76,0.97,0.97,0.98,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"胆囊病4型",null,611465,5,1,6,2,"ABCG8",1,77,"非编码区",16202,"1.0000=85/85",null,64241,"2p21","NM_022437",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v280",117,117,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44104925","c.1895T>C(exon13)","p.V632A","rs6544718",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","16980816;15996216;16507104;20170916","谷甾醇血症","AR",210250,3,1,6,2,"ABCG8",1,77,"非同义",12320,"1.0000=131/131",null,64241,"2p21","NM_022437","rs6544718|\"Increased_serum_cholesterol_in_low-cholesterol_consumers\"|16980816",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v280",117,117,1,{"$nulls":3},"A有","32629A","ABCG8","chr2:44104925","c.1895T>C(exon13)","p.V632A","rs6544718",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","16980816;15996216;16507104;20170916","胆囊病4型",null,611465,3,1,6,2,"ABCG8",1,77,"非同义",12320,"1.0000=131/131",null,64241,"2p21","NM_022437","rs6544718|\"Increased_serum_cholesterol_in_low-cholesterol_consumers\"|16980816",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v301",58,58,1,{"$nulls":3},"A有","32629A","ABHD1","chr2:27351948","c.411T>G(exon3)","p.D137E","rs6715286",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ABHD1",1,80,"非同义",12230,"1.0000=63/63",null,84696,"2p23.3","NM_032604",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v281",14,9,0.64,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ABHD11",1,70,"非编码区",14200,"0.5625=9/16",null,83451,"7q11.23","NM_148912",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v282",39,23,0.59,{"$nulls":3},"A有","32629A","ABHD11","chr7:73151644","c.540T>C(exon4)","p.Y180Y","rs6460052",0.6,0.56,0.55,0.58,0.56,0.53,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ABHD11",1,70,"同义",13203,"0.6087=28/46",null,83451,"7q11.23","NM_148912",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v288",49,19,0.39,{"$nulls":3},"A有","32629A","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,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"非编码区",2420,"0.4038=21/52",null,26090,"20p11.21","NM_015600",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v289",69,41,0.59,{"$nulls":3},"A有","32629A","ABHD12","chr20:25275621","c.1203A>G(exon13)","p.S401S","rs73598373",0.056,0.043,0.062,0.024,0.043,0.068,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"同义",13203,"0.5769=45/78",null,26090,"20p11.21","NM_015600",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v290",7,3,0.43,{"$nulls":3},"A有","32629A","ABHD12","chr20:25281184","c.*297C>G(exon13)","非编码区","rs11100",0.54,0.94,0.93,0.95,null,null,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"非编码区",14200,"0.4286=3/7",null,26090,"20p11.21","NM_001042472",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v291",36,21,0.58,{"$nulls":3},"A有","32629A","ABHD12","chr20:25281333","c.*148C>T(exon13)","非编码区","rs1046073",0.54,0.94,0.93,0.95,null,null,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"非编码区",14200,"0.5526=21/38",null,26090,"20p11.21","NM_001042472",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v292",60,34,0.57,{"$nulls":3},"A有","32629A","ABHD12","chr20:25281398","c.*83G>A(exon13)","非编码区","rs2424708",0.45,0.94,0.92,0.95,null,null,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"非编码区",14200,"0.5538=36/65",null,26090,"20p11.21","NM_001042472",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v293",34,19,0.56,{"$nulls":3},"A有","32629A","ABHD12","chr20:25282944","c.1068T>C(exon12)","p.D356D","rs10966",0.54,0.94,0.93,0.95,0.89,0.92,"杂合","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",612674,5,3,6,1,"ABHD12",1,93,"同义",13203,"0.5429=19/35",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"]
["32629A(745)v283",261,118,0.45,{"$nulls":3},"A有","32629A","ABHD12B","chr14:51368610","c.844A>G(exon10)","p.I282V","rs28564871",0.28,0.46,0.47,0.46,0.46,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非同义",12220,"0.4388=129/294",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v284",98,58,0.59,{"$nulls":3},"A有","32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非编码区",16202,"0.5909=65/110",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v285",147,71,0.48,{"$nulls":3},"A有","32629A","ABHD12B","chr14:51371121","c.*37C>T(exon13)","非编码区","rs4901065",0.28,0.46,0.47,0.46,0.46,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非编码区",14200,"0.4639=77/166",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v286",143,70,0.49,{"$nulls":3},"A有","32629A","ABHD12B","chr14:51371130","c.*46C>T(exon13)","非编码区","rs11157780",0.25,0.46,0.47,0.46,0.46,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非编码区",14200,"0.4750=76/160",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v287",113,55,0.49,{"$nulls":3},"A有","32629A","ABHD12B","chr14:51371150","c.*66C>T(exon13)","非编码区","rs11157781",0.28,0.46,0.47,0.46,0.46,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ABHD12B",1,120,"非编码区",14200,"0.4640=58/125",null,145447,"14q22.1","NM_001206673",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v294",59,59,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ABHD15",1,41,"非编码区",14200,"1.0000=60/60",null,116236,"17q11.2","NM_198147",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v295",41,26,0.63,{"$nulls":3},"A有","32629A","ABHD15","chr17:27889963","c.1023G>C(exon2)","p.P341P","rs721479",0.22,0.21,0.2,0.22,0.22,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ABHD15",1,41,"同义",13203,"0.6170=29/47",null,116236,"17q11.2","NM_198147",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v296",33,33,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ABHD15",1,41,"非同义",12220,"1.0000=39/39",null,116236,"17q11.2","NM_198147",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v297",11,11,1,{"$nulls":3},"A有","32629A","ABHD16B","chr20:62492772","c.-122C>G(exon1)","非编码区","rs6011193",0.89,0.97,0.98,0.97,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,19,"非编码区",14200,"1.0000=12/12",null,140701,"20q13.33","NM_080622",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v298",15,8,0.53,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"ABHD16B",1,19,"非同义",12220,"0.5333=8/15",null,140701,"20q13.33","NM_080622",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v299",19,9,0.47,{"$nulls":3},"A有","32629A","ABHD16B","chr20:62493978","c.1085G>A(exon1)","p.R362Q","rs74444574",0.065,0.14,0.15,0.13,0.079,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ABHD16B",1,19,"非同义",12220,"0.4545=10/22",null,140701,"20q13.33","NM_080622",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v334",45,21,0.47,{"$nulls":3},"A有","32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ABR",0.98,67,"非编码区",16203,"0.4600=23/50",null,29,"17p13.3","NM_001159746",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v361",60,29,0.48,{"$nulls":3},"A有","32629A","ACAD9","chr3:128614133","c.347-20C>T(exon4)","非编码区","rs1683791",0.66,0.71,0.72,0.69,0.7,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","脂酰辅酶A脱氢酶家族成员9缺陷症","AR",611126,5,3,5,1,"ACAD9",1,110,"非编码区",16202,"0.4925=33/67",null,28976,"3q21.3","NM_014049",null,"rs1683791|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v369",20,16,0.8,{"$nulls":3},"A有","32629A","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",201470,4,3,5,1,"ACADS",1,47,"同义",13303,"0.8000=16/20",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"]
["32629A(745)v370",8,4,0.5,{"$nulls":3},"A有","32629A","ACADS","chr12:121177366","c.*115G>A(exon10)","非编码区","rs2229534",0.075,0.29,0.29,0.3,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,5,3,5,1,"ACADS",1,47,"非编码区",14200,"0.5000=4/8",null,35,"12q24.31","NM_000017",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v371",4,2,0.5,{"$nulls":3},"A有","32629A","ACADS","chr12:121177456","c.*205C>T(exon10)","非编码区","rs548735871",0.0002,0.0024,0,0.0049,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",null,"短链酰基辅酶A脱氢酶缺乏症","AR",201470,3,3,5,1,"ACADS",1,47,"非编码区",14100,"0.5000=2/4",null,35,"12q24.31","NM_000017",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v366",4,4,1,{"$nulls":3},"A有","32629A","ACADSB","chr10:124813543","c.*262C>T(exon11)","非编码区","rs12248515",0.44,0.65,0.59,0.7,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"2-甲基丁酰-辅酶A脱氢酶缺乏症","AR",610006,5,1,1,1,"ACADSB",1,180,"非编码区",14200,"1.0000=5/5",null,36,"10q26.13","NM_001609",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v372",13,5,0.38,{"$nulls":3},"A有","32629A","ACADVL","chr17:7123240-7123241","c.-367(exon1)_c.-366(exon1)insGGGCGTGCAGGACGC","非编码区","rs139223575",null,0.47,0.46,0.48,0.075,0.51,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",null,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,3,3,3,1,"ACADVL",0.2,9.8,"非编码区",2430,"0.3846=5/13",null,37,"17p13.1","NM_001270448",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v373",18,11,0.61,{"$nulls":3},"A有","32629A","ACADVL","chr17:7123506","c.128G>A(exon2)","p.G43D","rs2230178",0.061,0.17,0.17,0.18,0.15,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20301763,"极长链酰基辅酶A脱氢酶缺陷症","AR",201475,5,3,3,1,"ACADVL",0.2,9.8,"非同义",12220,"0.6111=11/18",null,37,"17p13.1","NM_000018",null,"GLY43ASP|Benign|OMIM:201475|NA|no assertion criteria provided|PubMed:20301763;rs2230178|Benign|OMIM:201475|NA|no assertion criteria provided|PubMed:20301763",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v374",72,37,0.51,{"$nulls":3},"A有","32629A","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,"杂合","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",201475,5,3,3,1,"ACADVL",0.2,9.8,"非编码区",16201,"0.4253=37/87",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"]
["32629A(745)v375",84,84,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=97/97",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v375",84,84,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=97/97",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v375",84,84,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89391160","c.1623C>A(exon9)","p.P541P","rs2272023",0.69,0.44,0.43,0.45,0.41,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=97/97",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v376",29,29,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=31/31",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v376",29,29,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=31/31",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v376",29,29,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89392745","c.1809T>C(exon10)","p.A603A","rs1568116",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=31/31",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v377",159,159,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"纯合","未知","预测范围之外的同义突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,4,1,8,3,"ACAN",1,120,"同义",13303,"1.0000=179/179",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v377",159,159,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"纯合","未知","预测范围之外的同义突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,4,1,8,3,"ACAN",1,120,"同义",13303,"1.0000=179/179",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v377",159,159,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89398330","c.2514G>A(exon12)","p.S838S","rs3743399",null,0.44,0.43,0.46,0.44,0.47,"纯合","未知","预测范围之外的同义突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,4,1,8,3,"ACAN",1,120,"同义",13303,"1.0000=179/179",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v378",89,89,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,120,"非同义",12210,"1.0000=99/99",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v378",89,89,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"非同义",12210,"1.0000=99/99",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v378",89,89,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89398553","c.2737C>A(exon12)","p.P913T","rs35430524",0.097,0.21,0.23,0.19,0.21,0.21,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"非同义",12210,"1.0000=99/99",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v379",78,77,0.99,{"$nulls":3},"A有","32629A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,120,"非同义",12220,"0.9878=81/82",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v379",78,77,0.99,{"$nulls":3},"A有","32629A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"非同义",12220,"0.9878=81/82",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v379",78,77,0.99,{"$nulls":3},"A有","32629A","ACAN","chr15:89401109","c.5293A>G(exon12)","p.I1765V","rs4932439",0.76,0.44,0.43,0.46,0.44,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"非同义",12220,"0.9878=81/82",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v380",52,51,0.98,{"$nulls":3},"A有","32629A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,120,"同义",13203,"0.9818=54/55",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v380",52,51,0.98,{"$nulls":3},"A有","32629A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"0.9818=54/55",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v380",52,51,0.98,{"$nulls":3},"A有","32629A","ACAN","chr15:89401615","c.5799T>G(exon12)","p.T1933T","rs3825994",0.53,0.53,0.53,0.53,0.5,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"同义",13203,"0.9818=54/55",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v381",58,58,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,120,"非同义",12220,"1.0000=67/67",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v381",58,58,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"非同义",12220,"1.0000=67/67",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v381",58,58,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89402051","c.6235A>G(exon12)","p.I2079V","rs1042630",0.65,0.55,0.56,0.54,0.52,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"非同义",12220,"1.0000=67/67",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v382",30,30,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","剥脱性骨软骨炎,矮小身材和早发型骨关节炎","AD",165800,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=33/33",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v382",30,30,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","Kimberley型脊椎骨骺发育不良","AD",608361,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=33/33",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v382",30,30,1,{"$nulls":3},"A有","32629A","ACAN","chr15:89402239","c.6423T>C(exon12)","p.L2141L","rs1042631",0.74,0.6,0.61,0.59,0.56,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19180518;24552666","Aggrecan型脊椎骨骼-干骺端发育不良",null,612813,5,1,8,3,"ACAN",1,120,"同义",13203,"1.0000=33/33",null,176,"15q26.1","NM_013227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v383",11,10,0.91,{"$nulls":3},"A有","32629A","ACAP1","chr17:7239911","c.-143A>G(exon1)","非编码区","rs3809827",0.4,0.33,0.32,0.34,0.3,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACAP1",1,82,"非编码区",14200,"0.9167=11/12",null,9744,"17p13.1","NM_014716",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v384",181,76,0.42,{"$nulls":3},"A有","32629A","ACAP1","chr17:7254315","c.2119G>A(exon21)","p.A707T","rs35985803",0.043,0.031,0.043,0.019,0.022,0.034,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,2,0,"ACAP1",1,82,"非同义",12120,"0.4155=86/207",null,9744,"17p13.1","NM_014716",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v385",10,4,0.4,{"$nulls":3},"A有","32629A","ACAP2","chr3:194999846-194999846","c.*211(exon23)delA","非编码区","rs149109156",0.034,0.0096,0.0095,0.0097,null,null,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ACAP2",1,180,"非编码区",2410,"0.4545=5/11",null,23527,"3q29","NM_012287",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v386",79,79,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ACAP2",1,180,"非编码区",14200,"1.0000=101/101",null,23527,"3q29","NM_012287",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v387",39,17,0.44,{"$nulls":3},"A有","32629A","ACAP3","chr1:1233941","c.863+6A>G(exon11)","非编码区","rs1739855",0.5,0.75,0.8,0.7,0.7,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACAP3",1,34,"非编码区",16202,"0.4524=19/42",null,116983,"-","NM_030649",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v388",14,7,0.5,{"$nulls":3},"A有","32629A","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",1,190,"非编码区",14200,"0.4375=7/16",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"]
["32629A(745)v389",14,6,0.43,{"$nulls":3},"A有","32629A","ACAT1","chr11:107992346","c.13G>C(exon1)","p.A5P","rs3741056",0.33,0.37,0.39,0.36,0.32,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"线粒体乙酰乙酰辅酶A硫解酶缺乏症/β-酮硫解酶/短链3-酮脂酰辅酶A硫解酶缺乏症","AR",203750,5,3,2,1,"ACAT1",1,190,"非同义",12220,"0.3529=6/17",null,38,"11q22.3","NM_000019",null,"ALA5PRO|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v390",86,53,0.62,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"ACBD3",1,95,"非同义",12220,"0.6087=56/92",null,64746,"1q42.12","NM_022735",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v391",2,2,1,{"$nulls":3},"A有","32629A","ACBD5","chr10:27484746","c.*1613A>G(exon12)","非编码区","rs788231",0.99,1,1,1,null,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"非编码区",14200,"1.0000=2/2",null,91452,"10p12.1","NM_001271512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v392",105,51,0.49,{"$nulls":3},"A有","32629A","ACBD5","chr10:27508746","c.525C>T(exon5)","p.T175T","rs12572325",0.069,0.12,0.09,0.16,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"同义",13203,"0.4622=55/119",null,91452,"10p12.1","NM_001271512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v393",96,48,0.5,{"$nulls":3},"A有","32629A","ACBD5","chr10:27508758","c.513A>G(exon5)","p.P171P","rs10764690",0.32,0.37,0.37,0.36,0.42,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"同义",13203,"0.5185=56/108",null,91452,"10p12.1","NM_001271512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v394",62,62,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"非编码区",14200,"1.0000=71/71",null,91452,"10p12.1","NM_001271512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v395",61,61,1,{"$nulls":3},"A有","32629A","ACBD5","chr10:27529565","c.-143A>G(exon1)","非编码区","rs2489372",0.95,1,0.99,1,0.95,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACBD5",1,140,"非编码区",14200,"1.0000=71/71",null,91452,"10p12.1","NM_001271512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v396",2,2,1,{"$nulls":3},"A有","32629A","ACBD7","chr10:15120038","c.*491A>G(exon4)","非编码区","rs10796256",0.51,0.59,0.56,0.61,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACBD7",1,160,"非编码区",14200,"1.0000=2/2",null,414149,"10p13","NM_001039844",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v398",56,24,0.43,{"$nulls":3},"A有","32629A","ACCS","chr11:44089161","c.1-17G>A(exon2)","非编码区","rs178514",0.83,0.88,0.89,0.87,0.9,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACCS",1,81,"非编码区",16202,"0.4310=25/58",null,84680,"11p11","NM_032592",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v399",82,82,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ACCS",1,81,"非编码区",16203,"1.0000=99/99",null,84680,"11p11","NM_032592",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v400",56,56,1,{"$nulls":3},"A有","32629A","ACCS","chr11:44104701-44104702","c.1112-18(exon13)_c.1112-17(exon13)insCT","非编码区","rs79395013",0.77,0.94,0.95,0.94,0.92,0.92,"纯合","未知","内含子突变",{"$nulls":4},4,null,3,0,"ACCS",1,81,"非编码区",2500,"1.0000=60/60",null,84680,"11p11","NM_032592",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v397",62,34,0.55,{"$nulls":3},"A有","32629A","ACCSL","chr11:44080210","c.1585T>C(exon13)","p.C529R","rs2074051",0.79,0.87,0.87,0.88,0.89,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACCSL",1,98,"非同义",12220,"0.5303=35/66",null,390110,"11p11.2","NM_001031854",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v410",74,43,0.58,{"$nulls":3},"A有","32629A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v410",74,43,0.58,{"$nulls":3},"A有","32629A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","肾小管发育不良","AR",267430,5,3,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v410",74,43,0.58,{"$nulls":3},"A有","32629A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","心肌梗塞,易感1型",null,608446,5,2,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v410",74,43,0.58,{"$nulls":3},"A有","32629A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","糖尿病微血管并发症,易感3型",null,612624,5,2,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v410",74,43,0.58,{"$nulls":3},"A有","32629A","ACE","chr17:61559923","c.1215C>T(exon8)","p.P405P","rs4309",0.42,0.72,0.7,0.73,0.62,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17092869;18698231;19132786;20215856;20854388","脑出血、中风（易感）",null,614519,5,2,10,5,"ACE",1,65,"同义",13203,"0.5921=45/76",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v411",47,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,4,1,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v411",47,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"肾小管发育不良","AR",267430,4,3,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v411",47,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"心肌梗塞,易感1型",null,608446,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v411",47,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"糖尿病微血管并发症,易感3型",null,612624,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v411",47,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560934","c.1586+15A>C(exon10)","非编码区","rs553083017",0.017,0.0024,0,0.0049,0.27,0.0004,"杂合","未知","内含子突变可能影响调控",null,"脑出血、中风（易感）",null,614519,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1538=8/52",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v412",48,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"阿尔茨海默病（老年性痴呆）（易感）","AD",104300,4,1,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v412",48,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"肾小管发育不良","AR",267430,4,3,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v412",48,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"心肌梗塞,易感1型",null,608446,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v412",48,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"糖尿病微血管并发症,易感3型",null,612624,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v412",48,8,0.17,{"$nulls":3},"A有","32629A","ACE","chr17:61560939","c.1586+20A>C(exon10)","非编码区","rs540948069",0.016,0.0024,0,0.0049,0.28,0.00041,"杂合","未知","内含子突变可能影响调控",null,"脑出血、中风（易感）",null,614519,4,2,10,5,"ACE",1,65,"非编码区",16103,"0.1509=8/53",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v413",89,42,0.47,{"$nulls":3},"A有","32629A","ACE","chr17:61562309","c.81C>T(exon1)","p.P27P","rs4316",0.52,0.73,0.71,0.75,0.65,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12733698;24658007","阿尔茨海默病（老年性痴呆）（易感）","AD",104300,5,1,10,5,"ACE",1,65,"同义",13203,"0.4639=45/97",null,1636,"17q23.3","NM_001178057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v419",23,8,0.35,{"$nulls":3},"A有","32629A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","心肌梗塞,易感1型",null,608446,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.3600=9/25",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v419",23,8,0.35,{"$nulls":3},"A有","32629A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","糖尿病微血管并发症,易感3型",null,612624,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.3600=9/25",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v419",23,8,0.35,{"$nulls":3},"A有","32629A","ACE","chr17:61574492","c.3692-6G>A(exon25)","非编码区","rs4363",0.58,0.68,0.66,0.71,0.6,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18057531;20010124;20230274;20798657","脑出血、中风（易感）",null,614519,5,2,10,5,"ACE",1,65,"非编码区",16202,"0.3600=9/25",null,1636,"17q23.3","NM_000789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v401",285,285,1,{"$nulls":3},"A有","32629A","ACE2","chrX:15610348","c.439+4G>A(exon4)","非编码区","rs2285666",null,0.53,0.56,0.51,0.56,0.55,"纯合","未知","剪切位点预测结果为无害","18560893;19684612;20125035;21490025;24926374",{"$nulls":3},4,null,1,0,"ACE2",1,210,"非编码区",16302,"1.0000=328/328",null,59272,"Xp22","NM_021804",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v402",46,16,0.35,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"ACER1",1,61,"非同义",12220,"0.3396=18/53",null,125981,"19p13.3","NM_133492",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v403",27,13,0.48,{"$nulls":3},"A有","32629A","ACER2","chr9:19409206","c.108+16G>C(exon1)","非编码区","rs11792865",0.14,0.14,0.14,0.13,0.14,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACER2",1,87,"非编码区",16203,"0.5000=14/28",null,340485,"9p22.1","NM_001010887",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v404",11,7,0.64,{"$nulls":3},"A有","32629A","ACER2","chr9:19450755","c.*121T>C(exon6)","非编码区","rs143913336",0.017,0.065,0.062,0.068,0.075,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ACER2",1,87,"非编码区",14100,"0.6667=8/12",null,340485,"9p22.1","NM_001010887",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v405",213,74,0.35,{"$nulls":3},"A有","32629A","ACER3","chr11:76637651","c.154G>A(exon2)","p.V52I","rs4379869",0.63,0.6,0.57,0.63,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACER3",1,170,"非同义",12220,"0.3473=83/239",null,55331,"11q13.5","NM_018367",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v406",219,83,0.38,{"$nulls":3},"A有","32629A","ACER3","chr11:76637680","c.183G>A(exon2)","p.K61K","rs4479014",0.5,0.6,0.57,0.63,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACER3",1,170,"同义",13203,"0.3846=95/247",null,55331,"11q13.5","NM_018367",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v407",147,63,0.43,{"$nulls":3},"A有","32629A","ACER3","chr11:76637730","c.214+19C>G(exon2)","非编码区","rs4604914",0.5,0.6,0.57,0.63,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACER3",1,170,"非编码区",16203,"0.4337=72/166",null,55331,"11q13.5","NM_018367",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v408",98,43,0.44,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ACER3",1,170,"非编码区",16203,"0.4393=47/107",null,55331,"11q13.5","NM_018367",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v409",179,88,0.49,{"$nulls":3},"A有","32629A","ACER3","chr11:76701606","c.426G>A(exon6)","p.P142P","rs3740767",0.53,0.66,0.64,0.67,0.67,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19586928,{"$nulls":3},5,null,5,0,"ACER3",1,170,"同义",13203,"0.4778=97/203",null,55331,"11q13.5","NM_018367",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v420",51,31,0.61,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"同义",13203,"0.6441=38/59",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v421",18,15,0.83,{"$nulls":3},"A有","32629A","ACIN1","chr14:23538837","c.2298-11C>A(exon9)","非编码区","rs375019690",{"$nulls":4},0.0012,0.00083,"杂合","可能相关","MaxEntScan软件预测该突变可能影响剪切",{"$nulls":4},2,null,10,0,"ACIN1",1,77,"非编码区",16301,"0.8636=19/22",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v422",47,47,1,{"$nulls":3},"A有","32629A","ACIN1","chr14:23548783-23548784","c.1934(exon6)_c.1935(exon6)insACGTTC","p.S645delinsSRS","rs148403158",0.39,0.43,0.45,0.41,0.19,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非移码",2223,"1.0000=50/50",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v423",62,29,0.47,{"$nulls":3},"A有","32629A","ACIN1","chr14:23549285","c.1433C>T(exon6)","p.S478F","rs3751501",0.052,0.13,0.13,0.12,0.11,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19139070,{"$nulls":3},5,null,10,0,"ACIN1",1,77,"非同义",12220,"0.4328=29/67",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v424",63,30,0.48,{"$nulls":3},"A有","32629A","ACIN1","chr14:23549319","c.1399T>C(exon6)","p.S467P","rs1885097",0.43,0.39,0.4,0.38,0.37,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非同义",12220,"0.4493=31/69",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v425",55,55,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非同义",12230,"1.0000=62/62",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v426",55,25,0.45,{"$nulls":3},"A有","32629A","ACIN1","chr14:23549383","c.1335C>A(exon6)","p.A445A","rs45510791",0.052,0.13,0.13,0.12,0.11,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"同义",13203,"0.4516=28/62",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v427",78,78,1,{"$nulls":3},"A有","32629A","ACIN1","chr14:23549785","c.933A>G(exon6)","p.I311M","rs3811182",0.5,0.46,0.49,0.44,0.42,0.43,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非同义",12220,"1.0000=87/87",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v428",38,38,1,{"$nulls":3},"A有","32629A","ACIN1","chr14:23549879-23549881","c.837(exon6)_c.839(exon6)delGGA","p.E279_E280delinsE","rs3841035",0.11,0.2,0.21,0.18,0.0089,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非移码",2222,"1.0000=42/42",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v429",2,2,1,{"$nulls":3},"A有","32629A","ACIN1","chr14:23564766","c.-271G>C(exon1)","非编码区","rs17126531",0.07,0.13,0.14,0.12,0.091,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ACIN1",1,77,"非编码区",14200,"1.0000=3/3",null,22985,"14q11.2","NM_014977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v430",66,66,1,{"$nulls":3},"A有","32629A","ACLY","chr17:40024023","c.*40T>A(exon29)","非编码区","rs7217218",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,89,"非编码区",14200,"1.0000=74/74",null,47,"17q21.2","NM_001096",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v431",108,108,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"ACLY",1,89,"非编码区",16203,"1.0000=116/116",null,47,"17q21.2","NM_001096",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v432",35,35,1,{"$nulls":3},"A有","32629A","ACLY","chr17:40028450","c.2643-15T>A(exon24)","非编码区","rs8071627",0.78,0.82,0.85,0.79,0.83,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACLY",1,89,"非编码区",16201,"1.0000=36/36",null,47,"17q21.2","NM_001096",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v433",99,99,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"ACLY",1,89,"同义",13203,"1.0000=117/117",null,47,"17q21.2","NM_001096",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v434",8,5,0.62,{"$nulls":3},"A有","32629A","ACN9","chr7:96810729","c.*202G>A(exon2)","非编码区","rs13475",0.56,0.52,0.51,0.52,0.53,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18163977,{"$nulls":3},5,null,1,0,"ACN9",1,190,"非编码区",14200,"0.6250=5/8",null,57001,"7q21.3","NM_020186",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v435",84,39,0.46,{"$nulls":3},"A有","32629A","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",{"$nulls":3},5,null,2,0,"ACO1",1,160,"同义",13203,"0.5102=50/98",null,48,"9p21.1","NM_002197",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v436",28,11,0.39,{"$nulls":3},"A有","32629A","ACO1","chr9:32450187","c.*78T>C(exon21)","非编码区","rs12985",0.4,0.54,0.53,0.54,0.54,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",18755042,{"$nulls":3},5,null,2,0,"ACO1",1,160,"非编码区",14200,"0.3750=12/32",null,48,"9p21.1","NM_002197",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v437",53,30,0.57,{"$nulls":3},"A有","32629A","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",614559,5,3,3,1,"ACO2",1,73,"同义",13203,"0.5263=30/57",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"]
["32629A(745)v438",50,30,0.6,{"$nulls":3},"A有","32629A","ACO2","chr22:41911525","c.670C>T(exon5)","p.L224L","rs1799932",0.27,0.16,0.14,0.18,0.21,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","婴儿大脑-视网膜退化症","AR",614559,5,3,3,1,"ACO2",1,73,"同义",13203,"0.5714=32/56",null,50,"22q13.2","NM_001098",null,"rs1799932|Benign;Likely benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v439",56,24,0.43,{"$nulls":3},"A有","32629A","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",614559,5,3,3,1,"ACO2",1,73,"非编码区",16203,"0.4098=25/61",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"]
["32629A(745)v446",4,4,1,{"$nulls":3},"A有","32629A","ACOT1","chr14:74004595","c.457+13C>T(exon1)","非编码区","rs72738342",0.37,0.17,0.2,0.14,0.51,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACOT1",1,100,"非编码区",16203,"1.0000=4/4",null,641371,"14q24.3","NM_001037161",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v440",53,29,0.55,{"$nulls":3},"A有","32629A","ACOT11","chr1:55060224","c.472-5G>A(exon6)","非编码区","rs1755591",0.2,0.16,0.16,0.16,0.17,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",16202,"0.4915=29/59",null,26027,"1p32.3","NM_147161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v441",39,21,0.54,{"$nulls":3},"A有","32629A","ACOT11","chr1:55060362","c.605G>A(exon6)","p.G202D","rs1702003",0.26,0.16,0.16,0.16,0.17,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15986317;16255080;19737746",{"$nulls":3},5,null,4,0,"ACOT11",1,65,"非同义",12220,"0.4884=21/43",null,26027,"1p32.3","NM_147161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v442",61,29,0.48,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",14200,"0.4412=30/68",null,26027,"1p32.3","NM_147161",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v443",22,10,0.45,{"$nulls":3},"A有","32629A","ACOT11","chr1:55075993","c.*1208G>A(exon16)","非编码区","rs3820113",0.12,0.19,0.2,0.18,0.2,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOT11",1,65,"非编码区",14200,"0.4000=10/25",null,26027,"1p32.3","NM_147161",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v452",80,80,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"ACOT6",1,88,"非编码区",14200,"1.0000=85/85",null,641372,"14q24.3","NM_001037162",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v453",64,64,1,{"$nulls":3},"A有","32629A","ACOX1","chr17:73949540","c.822C>G(exon7)","p.I274M","rs1135640",0.55,0.79,0.82,0.77,0.78,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"过氧化物酶体脂酰辅酶A氧化酶缺陷症","AR",264470,5,1,1,1,"ACOX1",1,120,"非同义",12220,"1.0000=71/71",null,51,"17q25.1","NM_001185039",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v455",35,18,0.51,{"$nulls":3},"A有","32629A","ACOX2","chr3:58512375","c.1164A>G(exon10)","p.A388A","rs1127743",0.16,0.24,0.26,0.22,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,96,"同义",13203,"0.4865=18/37",null,8309,"3p14.3","NM_003500",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v456",75,75,1,{"$nulls":3},"A有","32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,96,"非编码区",16202,"1.0000=81/81",null,8309,"3p14.3","NM_003500",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v457",51,51,1,{"$nulls":3},"A有","32629A","ACOX2","chr3:58520859","c.-26T>C(exon2)","非编码区","rs4681862",0.87,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACOX2",1,96,"非编码区",14200,"1.0000=55/55",null,8309,"3p14.3","NM_003500",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v458",8,5,0.62,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ACOX3",1,94,"非编码区",14200,"0.6250=5/8",null,8310,"4p15.3","NM_003501",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v459",47,23,0.49,{"$nulls":3},"A有","32629A","ACOX3","chr4:8368604","c.*84G>A(exon18)","非编码区","rs708244",0.27,0.31,0.31,0.31,0.34,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACOX3",1,94,"非编码区",14200,"0.5192=27/52",null,8310,"4p15.3","NM_003501",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v460",68,37,0.54,{"$nulls":3},"A有","32629A","ACOX3","chr4:8375342","c.1842C>T(exon16)","p.S614S","rs2280571",0.14,0.14,0.13,0.16,0.15,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACOX3",1,94,"同义",13203,"0.5526=42/76",null,8310,"4p15.3","NM_003501",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v461",123,74,0.6,{"$nulls":3},"A有","32629A","ACOXL","chr2:111598958","c.764C>T(exon10)","p.T255M","rs1554005",0.18,0.15,0.17,0.13,0.17,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACOXL",1,140,"非同义",12210,"0.6111=88/144",null,55289,"2q13","NM_001142807",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v462",197,88,0.45,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ACOXL",1,140,"非同义",12210,"0.4410=101/229",null,55289,"2q13","NM_001142807",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v463",41,41,1,{"$nulls":3},"A有","32629A","ACP1","chr2:264895","c.-70G>C(exon1)","非编码区","rs4854300",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACP1",1,140,"非编码区",14200,"1.0000=48/48",null,52,"2p25","NM_004300",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v464",63,33,0.52,{"$nulls":3},"A有","32629A","ACP1","chr2:272203","c.284C>T(exon3)","p.T95I","rs11553746",0.24,0.24,0.24,0.24,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",20011102,{"$nulls":3},5,null,3,0,"ACP1",1,140,"非同义",12220,"0.5143=36/70",null,52,"2p25","NM_001040649",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v465",247,109,0.44,{"$nulls":3},"A有","32629A","ACP1","chr2:277003","c.317A>G(exon5)","p.Q106R","rs79716074",0.26,0.24,0.24,0.24,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",1627603,{"$nulls":3},5,null,3,0,"ACP1",1,140,"非同义",12210,"0.4096=120/293",null,52,"2p25","NM_004300",null,"GLN106ARG|Benign|NA|OMIM:171500.0001|no assertion criteria provided|PubMed:1627603",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v466",61,61,1,{"$nulls":3},"A有","32629A","ACP2","chr11:47270255","c.86G>A(exon1)","p.R29Q","rs2167079",0.52,0.75,0.79,0.71,0.72,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17357082;19060910","酸性磷酸酶缺乏症","AR",200950,5,1,1,1,"ACP2",1,76,"非同义",12220,"1.0000=66/66",null,53,"11p11.2|11p12-p11","NM_001610",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v467",3,3,1,{"$nulls":3},"A有","32629A","ACP5","chr19:11688460","c.-53A>G(exon3)","非编码区","rs2071484",0.51,0.56,0.57,0.55,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脊柱软骨发育不全伴免疫失调","AD,AR",607944,5,1,1,1,"ACP5",1,69,"非编码区",14200,"1.0000=3/3",null,54,"19p13.3-p13.2","NM_001111035",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v468",99,54,0.55,{"$nulls":3},"A有","32629A","ACP6","chr1:147119273","c.1239C>T(exon10)","p.H413H","rs1344",0.48,0.39,0.43,0.34,0.32,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACP6",1,110,"同义",13203,"0.5093=55/108",null,51205,"1q21","NM_016361",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v469",90,90,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ACP6",1,110,"非同义",12220,"1.0000=95/95",null,51205,"1q21","NM_016361",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v470",43,42,0.98,{"$nulls":3},"A有","32629A","ACP6","chr1:147124310","c.823A>C(exon7)","p.R275R","rs2153463",{"$nulls":4},0.7,0.71,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ACP6",1,110,"同义",13303,"0.9778=44/45",null,51205,"1q21","NM_016361",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v472",6,2,0.33,{"$nulls":3},"A有","32629A","ACP6","chr1:147142296","c.-126A>G(exon1)","非编码区","rs2883202",0.48,0.61,0.58,0.65,0.67,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACP6",1,110,"非编码区",14200,"0.3333=2/6",null,51205,"1q21","NM_016361",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v473",83,47,0.57,{"$nulls":3},"A有","32629A","ACPL2","chr3:140998214","c.239-6G>A(exon6)","非编码区","rs13087169",0.57,0.52,0.5,0.53,0.54,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACPL2",1,94,"非编码区",16202,"0.5647=48/85",null,92370,"3q23","NM_152282",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v474",38,12,0.32,{"$nulls":3},"A有","32629A","ACPL2","chr3:141011630","c.1026C>T(exon8)","p.F342F","rs3210458",0.1,0.13,0.11,0.14,0.1,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACPL2",1,94,"同义",13203,"0.3077=12/39",null,92370,"3q23","NM_152282",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v475",103,54,0.52,{"$nulls":3},"A有","32629A","ACPP","chr3:132051116","c.384T>C(exon4)","p.G128G","rs144823139",3.8E-3,0.022,0.019,0.024,0.021,0.022,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACPP",1,150,"同义",13103,"0.5315=59/111",null,55,"3q22.1","NM_001099",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v482",78,78,1,{"$nulls":3},"A有","32629A","ACR","chr22:51182485","c.566-4A>G(exon4)","非编码区","rs6009961",0.64,0.4,0.39,0.42,0.42,0.41,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACR",1,81,"非编码区",16202,"1.0000=86/86",null,49,"22q13.33","NM_001097",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v498",73,73,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"ACSL6",1,98,"非编码区",16203,"1.0000=84/84",null,23305,"5q31","NM_015256",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v499",59,33,0.56,{"$nulls":3},"A有","32629A","ACSM1","chr16:20634775","c.*33A>G(exon13)","非编码区","rs3087812",0.35,0.37,0.37,0.36,0.38,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"非编码区",14200,"0.5303=35/66",null,116285,"16p12.3","NM_052956",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v500",109,54,0.5,{"$nulls":3},"A有","32629A","ACSM1","chr16:20635418","c.1647G>A(exon12)","p.K549K","rs3743690",0.18,0.5,0.46,0.53,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"剪切位点",13201,"0.4821=54/112",null,116285,"16p12.3","NM_052956",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v501",49,17,0.35,{"$nulls":3},"A有","32629A","ACSM1","chr16:20636814","c.1458C>T(exon11)","p.S486S","rs2301672",0.18,0.5,0.46,0.53,0.47,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"同义",13203,"0.3269=17/52",null,116285,"16p12.3","NM_052956",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v502",106,106,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"同义",13203,"1.0000=120/120",null,116285,"16p12.3","NM_052956",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v503",148,71,0.48,{"$nulls":3},"A有","32629A","ACSM1","chr16:20648702","c.1188C>T(exon8)","p.Y396Y","rs151328",0.35,0.37,0.38,0.35,0.38,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM1",1,120,"同义",13203,"0.5063=80/158",null,116285,"16p12.3","NM_052956",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v504",137,62,0.45,{"$nulls":3},"A有","32629A","ACSM2A","chr16:20471450","c.14G>A(exon3)","p.R5Q","rs59292608",0.17,0.36,0.34,0.38,0.38,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM2A",1,240,"非同义",12220,"0.4408=67/152",null,123876,"16p12.3","NM_001010845",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v505",192,173,0.9,{"$nulls":3},"A有","32629A","ACSM2A","chr16:20476852","c.191T>C(exon4)","p.L64P","rs7187246",0.51,0.73,0.68,0.78,0.6,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM2A",1,240,"非同义",12220,"0.8889=192/216",null,123876,"16p12.3","NM_001010845",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v506",224,107,0.48,{"$nulls":3},"A有","32629A","ACSM2A","chr16:20477004","c.343C>T(exon4)","p.R115X,463","rs59261767",0.046,0.21,0.18,0.25,0.17,0.2,"杂合","较高","无义突变可能会导致蛋白翻译提前终止",{"$nulls":4},1,null,5,0,"ACSM2A",1,240,"截断",15100,"0.4798=119/248",null,123876,"16p12.3","NM_001010845",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v508",119,59,0.5,{"$nulls":3},"A有","32629A","ACSM2A","chr16:20498079","c.*79T>G(exon15)","非编码区","rs2072080",0.79,0.6,0.63,0.57,0.59,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM2A",1,240,"非编码区",14200,"0.5180=72/139",null,123876,"16p12.3","NM_001010845",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v509",7,2,0.29,{"$nulls":3},"A有","32629A","ACSM2B","chr16:20548280","c.*300C>T(exon15)","非编码区","rs11645661",0.095,0.2,0.18,0.22,0.15,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"非编码区",14200,"0.2857=2/7",null,348158,"16p12.3","NM_182617",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v510",20,11,0.55,{"$nulls":3},"A有","32629A","ACSM2B","chr16:20548334","c.*246G>A(exon15)","非编码区","rs7404298",0.81,0.67,0.72,0.62,0.63,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"非编码区",14200,"0.5455=12/22",null,348158,"16p12.3","NM_182617",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v514",130,130,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"非同义",12220,"1.0000=139/139",null,348158,"16p12.3","NM_182617",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v515",173,95,0.55,{"$nulls":3},"A有","32629A","ACSM2B","chr16:20576048","c.120G>T(exon3)","p.V40V","rs112352583",0.27,0.69,0.7,0.69,0.68,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ACSM2B",1,250,"同义",13203,"0.5266=99/188",null,348158,"16p12.3","NM_182617",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v516",133,66,0.5,{"$nulls":3},"A有","32629A","ACSM3","chr16:20792188","c.782+9T>C(exon5)","非编码区","rs5715",0.63,0.43,0.46,0.4,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSM3",1,130,"非编码区",16203,"0.4930=70/142",null,6296,"16p13.11","NM_005622",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v517",103,42,0.41,{"$nulls":3},"A有","32629A","ACSM4","chr12:7459340","c.412+1G>A(exon2)","剪切位点",{"$nulls":5},0.00052,null,"杂合","较高","突变在经典剪切位点上，可能影响mRNA剪切",{"$nulls":4},1,null,2,0,"ACSM4",1,160,"剪切位点",16404,"0.3729=44/118",null,341392,"12p13.31","NM_001080454",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v518",110,110,1,{"$nulls":3},"A有","32629A","ACSM4","chr12:7463241","c.519A>T(exon3)","p.P173P","rs7968241",null,0.39,0.38,0.4,0.38,0.38,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ACSM4",1,160,"同义",13303,"1.0000=118/118",null,341392,"12p13.31","NM_001080454",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v519",70,31,0.44,{"$nulls":3},"A有","32629A","ACSM5","chr16:20429581-20429582","c.405(exon3)_c.406(exon3)insATGCGG","p.C135_M136insMR","rs530730971",0.0008,0,0,0,0.0052,0.015,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,5,0,"ACSM5",1,140,"非移码",2211,"0.3721=32/86",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v520",115,115,1,{"$nulls":3},"A有","32629A","ACSM5","chr16:20441053","c.1055C>G(exon8)","p.P352R","rs8062344",0.44,0.56,0.52,0.61,0.57,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM5",1,140,"非同义",12210,"1.0000=124/124",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v521",119,119,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ACSM5",1,140,"同义",13203,"1.0000=130/130",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v522",142,142,1,{"$nulls":3},"A有","32629A","ACSM5","chr16:20448520","c.1436+19T>C(exon11)","非编码区","rs7499667",0.46,0.73,0.68,0.78,0.75,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ACSM5",1,140,"非编码区",16203,"1.0000=164/164",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v523",5,5,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ACSM5",1,140,"非编码区",14200,"1.0000=5/5",null,54988,"16p12.3","NM_017888",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v524",35,35,1,{"$nulls":3},"A有","32629A","ACSS1","chr20:25038484","c.255C>A(exon1)","p.T85T","rs66817095",0.19,0.5,0.52,0.47,0.44,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ACSS1",0.94,67,"同义",13203,"1.0000=36/36",null,84532,"20p11.23-p11.21","NM_032501",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v525",184,102,0.55,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,2,0,"ACSS2",1,110,"同义",13203,"0.5450=115/211",null,55902,"20q11.22","NM_001076552",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v526",80,41,0.51,{"$nulls":3},"A有","32629A","ACSS2","chr20:33509275","c.1449+10G>A(exon12)","非编码区","rs3818273",0.51,0.44,0.47,0.41,null,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ACSS2",1,110,"非编码区",16203,"0.4945=45/91",null,55902,"20q11.22","NM_001076552",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v527",149,68,0.46,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"ACSS3",1,200,"同义",13203,"0.4491=75/167",null,79611,"12q21.31","NM_024560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v528",62,40,0.65,{"$nulls":3},"A有","32629A","ACTA2","chr10:90701645","c.370-19T>C(exon5)","非编码区","rs714887",0.17,0.28,0.26,0.3,null,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","家族性胸主动脉瘤6型",null,611788,5,2,3,3,"ACTA2",1,130,"非编码区",16202,"0.6857=48/70",null,59,"10q23.3","NM_001141945",null,"rs714887|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v528",62,40,0.65,{"$nulls":3},"A有","32629A","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",1,130,"非编码区",16202,"0.6857=48/70",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"]
["32629A(745)v528",62,40,0.65,{"$nulls":3},"A有","32629A","ACTA2","chr10:90701645","c.370-19T>C(exon5)","非编码区","rs714887",0.17,0.28,0.26,0.3,null,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","烟雾病5型",null,614042,5,2,3,3,"ACTA2",1,130,"非编码区",16202,"0.6857=48/70",null,59,"10q23.3","NM_001141945",null,"rs714887|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v529",2,2,1,{"$nulls":3},"A有","32629A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"纯合","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,611788,5,1,3,3,"ACTA2",1,130,"非编码区",14200,"1.0000=2/2",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v529",2,2,1,{"$nulls":3},"A有","32629A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"纯合","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",1,130,"非编码区",14200,"1.0000=2/2",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v529",2,2,1,{"$nulls":3},"A有","32629A","ACTA2","chr10:90750909","c.-237G>A(exon1)","非编码区","rs12775501",0.36,0.6,0.58,0.61,0.51,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24669260,"烟雾病5型",null,614042,5,1,3,3,"ACTA2",1,130,"非编码区",14200,"1.0000=2/2",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v530",2,2,1,{"$nulls":3},"A有","32629A","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",1,130,"非编码区",14200,"1.0000=2/2",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v530",2,2,1,{"$nulls":3},"A有","32629A","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",1,130,"非编码区",14200,"1.0000=2/2",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v530",2,2,1,{"$nulls":3},"A有","32629A","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",1,130,"非编码区",14200,"1.0000=2/2",null,59,"10q23.3","NM_001141945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v531",11,7,0.64,{"$nulls":3},"A有","32629A","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",1,80,"非编码区",14200,"0.6429=9/14",null,60,"7p22","NM_001101",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v531",11,7,0.64,{"$nulls":3},"A有","32629A","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",1,80,"非编码区",14200,"0.6429=9/14",null,60,"7p22","NM_001101",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v532",34,34,1,{"$nulls":3},"A有","32629A","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,"纯合","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",1,80,"非编码区",16202,"1.0000=35/35",null,60,"7p22","NM_001101",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v532",34,34,1,{"$nulls":3},"A有","32629A","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,"纯合","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",1,80,"非编码区",16202,"1.0000=35/35",null,60,"7p22","NM_001101",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v533",62,62,1,{"$nulls":3},"A有","32629A","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",1,65,"同义",13203,"1.0000=73/73",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"]
["32629A(745)v533",62,62,1,{"$nulls":3},"A有","32629A","ACTG1","chr17:79478019","c.918C>T(exon5)","p.Y306Y","rs1139405",0.76,0.87,0.88,0.87,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"Baraitser-Winter综合征2",null,614583,5,1,2,2,"ACTG1",1,65,"同义",13203,"1.0000=73/73",null,71,"17q25","NM_001199954",null,"rs1139405|Benign;Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v534",62,62,1,{"$nulls":3},"A有","32629A","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",1,65,"非编码区",16203,"1.0000=65/65",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"]
["32629A(745)v534",62,62,1,{"$nulls":3},"A有","32629A","ACTG1","chr17:79478916","c.363+13C>A(exon3)","非编码区","rs9910792",0.56,0.87,0.88,0.86,0.88,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"Baraitser-Winter综合征2",null,614583,5,1,2,2,"ACTG1",1,65,"非编码区",16203,"1.0000=65/65",null,71,"17q25","NM_001199954",null,"rs9910792|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v535",31,31,1,{"$nulls":3},"A有","32629A","ACTG2","chr2:74128433","c.-6C>T(exon2)","非编码区","rs1050146",0.71,0.64,0.68,0.61,0.57,0.56,"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",1,120,"非编码区",14200,"1.0000=31/31",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v536",152,150,0.99,{"$nulls":3},"A有","32629A","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",1,120,"非编码区",16202,"0.9882=167/169",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v537",112,112,1,{"$nulls":3},"A有","32629A","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",1,120,"非编码区",16202,"1.0000=125/125",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v538",143,143,1,{"$nulls":3},"A有","32629A","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",1,120,"同义",13203,"1.0000=160/160",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v539",84,83,0.99,{"$nulls":3},"A有","32629A","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",1,120,"非编码区",16203,"0.9886=87/88",null,72,"2p13.1","NM_001615",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v540",132,132,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},4,null,1,0,"ACTL6A",1,240,"同义",13303,"1.0000=148/148",null,86,"3q26.33","NM_178042",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v543",30,17,0.57,{"$nulls":3},"A有","32629A","ACTL8","chr1:18149510","c.7G>T(exon2)","p.A3S","rs694214",0.31,0.41,0.47,0.35,0.4,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL8",1,47,"非同义",12220,"0.5667=17/30",null,81569,"1p36.2-p35","NM_030812",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v544",36,36,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ACTL8",1,47,"同义",13203,"1.0000=36/36",null,81569,"1p36.2-p35","NM_030812",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v545",35,21,0.6,{"$nulls":3},"A有","32629A","ACTL8","chr1:18152582","c.669C>T(exon3)","p.D223D","rs478698",0.13,0.19,0.22,0.15,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTL8",1,47,"同义",13203,"0.6154=24/39",null,81569,"1p36.2-p35","NM_030812",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v546",27,27,1,{"$nulls":3},"A有","32629A","ACTL9","chr19:8808373","c.679C>A(exon1)","p.H227N","rs4804079",0.6,0.68,0.66,0.7,0.68,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTL9",1,31,"非同义",12220,"1.0000=28/28",null,284382,"19p13.2","NM_178525",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v549",7,7,1,{"$nulls":3},"A有","32629A","ACTL9","chr19:8809100","c.-49A>G(exon1)","非编码区","rs62117992",0.18,0.012,0.014,0.0097,0.01,0.012,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ACTL9",1,31,"非编码区",14200,"1.0000=8/8",null,284382,"19p13.2","NM_178525",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v551",40,40,1,{"$nulls":3},"A有","32629A","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",1,92,"非编码区",16202,"1.0000=41/41",null,87,"14q24|14q22-q24","NM_001130004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v556",165,165,1,{"$nulls":3},"A有","32629A","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=184/184",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"]
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["32629A(745)v561",224,101,0.45,{"$nulls":3},"A有","32629A","ACTR10","chr14:58669661-58669661","c.150+16(exon2)delT","非编码区","rs75291796",0.36,0.37,0.41,0.33,0.047,0.36,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ACTR10",1,220,"非编码区",2500,"0.4517=117/259",null,55860,"14q23.1","NM_018477",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v563",71,70,0.99,{"$nulls":3},"A有","32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ACTR1B",1,66,"非编码区",16202,"0.9868=75/76",null,10120,"2q11.1-q11.2","NM_005735",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v565",100,100,1,{"$nulls":3},"A有","32629A","ACTR2","chr2:65481008","c.600+10A>C(exon6)","非编码区","rs268871",0.79,0.81,0.8,0.82,0.82,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",16203,"1.0000=113/113",null,10097,"2p14","NM_001005386",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v567",162,88,0.54,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",14200,"0.5491=95/173",null,10097,"2p14","NM_001005386",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v570",2,2,1,{"$nulls":3},"A有","32629A","ACTR2","chr2:65496187","c.*319G>A(exon10)","非编码区","rs12560",0.4,0.74,0.74,0.75,0.73,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ACTR2",1,210,"非编码区",14200,"1.0000=2/2",null,10097,"2p14","NM_001005386",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v571",12,5,0.42,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"ACTR3B",1,220,"非编码区",14200,"0.4167=5/12",null,57180,"7q36.1","NM_020445",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v608",38,38,1,{"$nulls":3},"A有","32629A","ADAM11","chr17:42852610","c.1251T>C(exon15)","p.C417C","rs1558084",0.9,0.87,0.87,0.87,0.88,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"同义",13203,"1.0000=39/39",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v609",41,39,0.95,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"同义",13203,"0.9524=40/42",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v610",52,52,1,{"$nulls":3},"A有","32629A","ADAM11","chr17:42855248","c.2070+17T>C(exon23)","非编码区","rs2070603",0.65,0.77,0.76,0.79,0.8,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"非编码区",16203,"1.0000=58/58",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v611",76,76,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"同义",13203,"1.0000=84/84",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v612",4,4,1,{"$nulls":3},"A有","32629A","ADAM11","chr17:42857430","c.*308G>A(exon27)","非编码区","rs35504352",0.65,0.77,0.76,0.79,0.7,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ADAM11",1,66,"非编码区",14200,"1.0000=5/5",null,4185,"17q21.3","NM_002390",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v613",57,57,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ADAM12",1,120,"同义",13203,"1.0000=70/70",null,8038,"10q26.3","NM_003474",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v614",48,21,0.44,{"$nulls":3},"A有","32629A","ADAM12","chr10:127730728","c.2190G>A(exon19)","p.A730A","rs34265990",0.18,0.31,0.27,0.34,0.31,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ADAM12",1,120,"同义",13203,"0.4510=23/51",null,8038,"10q26.3","NM_021641",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v615",154,154,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"ADAM12",1,120,"非编码区",16203,"1.0000=170/170",null,8038,"10q26.3","NM_003474",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v616",122,67,0.55,{"$nulls":3},"A有","32629A","ADAM12","chr10:127967532","c.212G>A(exon3)","p.R71Q","rs75316572",0.032,0.07,0.076,0.063,0.063,0.055,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"ADAM12",1,120,"非同义",12120,"0.5612=78/139",null,8038,"10q26.3","NM_003474",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v618",40,40,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ADAM15",1,66,"非同义",12220,"1.0000=45/45",null,8751,"1q21.3","NM_207197",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v619",31,9,0.29,{"$nulls":3},"A有","32629A","ADAM15","chr1:155033317","c.2277+9T>C(exon19)","非编码区","rs11264304",0.7,0.94,0.94,0.94,0.91,0.91,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM15",1,66,"非编码区",16203,"0.2812=9/32",null,8751,"1q21.3","NM_207197",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v620",93,42,0.45,{"$nulls":3},"A有","32629A","ADAM19","chr5:156916167","c.2268C>T(exon20)","p.S756S","rs753277652",{"$nulls":4},0.0011,1E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ADAM19",1,89,"同义",13303,"0.4537=49/108",null,8728,"5q33.3","NM_033274",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v621",84,40,0.48,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ADAM20",1,130,"同义",13203,"0.4787=45/94",null,8748,"14q24.1","NM_003814",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v622",91,41,0.45,{"$nulls":3},"A有","32629A","ADAM20","chr14:70990398","c.1227C>T(exon2)","p.C409C","rs10162314",0.058,0.026,0.029,0.024,0.024,0.023,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM20",1,130,"同义",13203,"0.4706=48/102",null,8748,"14q24.1","NM_003814",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v623",23,14,0.61,{"$nulls":3},"A有","32629A","ADAM20","chr14:70991650","c.-26T>G(exon2)","非编码区","rs74062730",0.19,0.51,0.46,0.57,0.52,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM20",1,130,"非编码区",14200,"0.5833=14/24",null,8748,"14q24.1","NM_003814",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v624",34,16,0.47,{"$nulls":3},"A有","32629A","ADAM21","chr14:70924072","c.-145A>G(exon2)","非编码区","rs4143920",0.31,0.54,0.54,0.54,0.54,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"非编码区",14200,"0.4571=16/35",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v625",101,42,0.42,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.3925=42/107",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v627",77,72,0.94,{"$nulls":3},"A有","32629A","ADAM21","chr14:70924501","c.285C>G(exon2)","p.D95E","rs8010994",{"$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",{"$nulls":4},3,null,13,0,"ADAM21",1,100,"非同义",12320,"0.9398=78/83",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v630",64,35,0.55,{"$nulls":3},"A有","32629A","ADAM21","chr14:70924567","c.351A>T(exon2)","p.A117A","rs3829453",0.37,0.6,0.59,0.61,0.61,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.5556=40/72",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v631",50,21,0.42,{"$nulls":3},"A有","32629A","ADAM21","chr14:70924693","c.477T>C(exon2)","p.Y159Y","rs45480894",0.26,0.52,0.52,0.52,0.52,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.4426=27/61",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v632",47,19,0.4,{"$nulls":3},"A有","32629A","ADAM21","chr14:70924696","c.480G>A(exon2)","p.K160K","rs77892318",0.25,0.52,0.51,0.52,0.52,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.4211=24/57",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v633",47,20,0.43,{"$nulls":3},"A有","32629A","ADAM21","chr14:70924697","c.481A>G(exon2)","p.I161V","rs45545935",0.25,0.52,0.51,0.52,0.52,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"非同义",12220,"0.4483=26/58",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v634",80,36,0.45,{"$nulls":3},"A有","32629A","ADAM21","chr14:70924955","c.739A>C(exon2)","p.K247Q","rs114864695",0.28,0.54,0.54,0.54,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"非同义",12220,"0.4302=37/86",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v636",47,16,0.34,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,13,0,"ADAM21",1,100,"同义",13203,"0.3077=16/52",null,8747,"14q24.1","NM_003813",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v637",31,18,0.58,{"$nulls":3},"A有","32629A","ADAM22","chr7:87564497","c.242C>G(exon2)","p.P81R","rs2279542",0.63,0.52,0.57,0.47,0.48,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM22",1,200,"非同义",12220,"0.5882=20/34",null,53616,"7q21","NM_021723",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v638",137,68,0.5,{"$nulls":3},"A有","32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAM22",1,200,"非编码区",16202,"0.5000=77/154",null,53616,"7q21","NM_021723",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v639",100,54,0.54,{"$nulls":3},"A有","32629A","ADAM23","chr2:207459467","c.2085C>T(exon23)","p.A695A","rs3732079",0.18,0.17,0.15,0.19,0.18,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ADAM23",1,150,"同义",13203,"0.5135=57/111",null,8745,"2q33","NM_003812",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v640",205,205,1,{"$nulls":3},"A有","32629A","ADAM28","chr8:24171051","c.534C>T(exon6)","p.H178H","rs6996616",0.19,0.39,0.38,0.41,0.38,0.35,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"同义",13203,"1.0000=223/223",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v641",125,123,0.98,{"$nulls":3},"A有","32629A","ADAM28","chr8:24188844","c.1281+4T>C(exon12)","非编码区","rs2278467",0.22,0.4,0.39,0.42,0.39,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非编码区",16202,"0.9860=141/143",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v642",56,56,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非编码区",14200,"1.0000=59/59",null,10863,"8p21.2","NM_021777",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v643",169,82,0.49,{"$nulls":3},"A有","32629A","ADAM28","chr8:24199091","c.1671-20C>A(exon16)","非编码区","rs11996594",0.098,0.084,0.062,0.11,0.12,0.093,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非编码区",16202,"0.4974=94/189",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v644",165,85,0.52,{"$nulls":3},"A有","32629A","ADAM28","chr8:24199099","c.1671-12C>G(exon16)","非编码区","rs188642389",1E-3,0.0024,0,0.0049,0.0021,0.007,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,12,0,"ADAM28",1,210,"非编码区",16102,"0.5054=93/184",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v645",196,99,0.51,{"$nulls":3},"A有","32629A","ADAM28","chr8:24199218","c.1778C>A(exon16)","p.T593K","rs36041430",0.098,0.084,0.062,0.11,0.12,0.093,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非同义",12220,"0.5354=121/226",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v646",163,85,0.52,{"$nulls":3},"A有","32629A","ADAM28","chr8:24207399","c.2013G>C(exon19)","p.V671V","rs7829944",0.072,0.091,0.062,0.12,0.12,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"同义",13203,"0.5156=99/192",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v647",172,93,0.54,{"$nulls":3},"A有","32629A","ADAM28","chr8:24207438","c.2052G>A(exon19)","p.M684I","rs7829965",0.08,0.091,0.062,0.12,0.12,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非同义",12220,"0.5228=103/197",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v648",176,176,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非编码区",16202,"1.0000=203/203",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v649",160,159,0.99,{"$nulls":3},"A有","32629A","ADAM28","chr8:24211331","c.2293G>A(exon22)","p.V765M","rs7814768",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ADAM28",1,210,"非同义",12220,"0.9946=184/185",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v650",139,139,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},4,null,12,0,"ADAM28",1,210,"非编码区",2500,"1.0000=150/150",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v651",129,129,1,{"$nulls":3},"A有","32629A","ADAM28","chr8:24211994-24211997","c.*77(exon23)_c.*80(exon23)delCTAT","非编码区","rs10610134",null,1,1,1,0.14,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,12,0,"ADAM28",1,210,"非编码区",2430,"1.0000=141/141",null,10863,"8p21.2","NM_014265",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v652",86,86,1,{"$nulls":3},"A有","32629A","ADAM29","chr4:175898555","c.1879C>T(exon5)","p.P627S","rs78280171",0.049,0.23,0.25,0.22,0.24,0.24,"纯合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,1,0,"ADAM29",1,150,"非同义",12110,"1.0000=95/95",null,11086,"4q34","NM_014269",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v653",27,27,1,{"$nulls":3},"A有","32629A","ADAM32","chr8:38965271","c.-24C>T(exon1)","非编码区","rs59118660",0.44,0.69,0.71,0.66,0.68,0.71,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM32",1,260,"非编码区",14200,"1.0000=29/29",null,203102,"8p11.22","NM_145004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v654",144,144,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"ADAM32",1,260,"非同义",12230,"1.0000=166/166",null,203102,"8p11.22","NM_145004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v655",225,133,0.59,{"$nulls":3},"A有","32629A","ADAM32","chr8:39091526","c.1743T>C(exon16)","p.T581T","rs4515515",0.22,0.3,0.29,0.31,0.3,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM32",1,260,"同义",13203,"0.6130=160/261",null,203102,"8p11.22","NM_145004",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v656",274,143,0.52,{"$nulls":3},"A有","32629A","ADAM32","chr8:39128387","c.2163-8C>T(exon20)","非编码区","rs4733994",0.22,0.29,0.27,0.31,0.3,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAM32",1,260,"非编码区",16202,"0.5132=156/304",null,203102,"8p11.22","NM_145004",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v657",46,17,0.37,{"$nulls":3},"A有","32629A","ADAM33","chr20:3650205","c.2320C>T(exon20)","p.P774S","rs2280090",0.14,0.11,0.11,0.11,0.075,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20003279;16519819;16784537;17878941;18778489",{"$nulls":3},5,null,8,0,"ADAM33",1,41,"非同义",12210,"0.3469=17/49",null,80332,"20p13","NM_025220","rs2280090|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v658",52,20,0.38,{"$nulls":3},"A有","32629A","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",{"$nulls":3},5,null,8,0,"ADAM33",1,41,"非同义",12210,"0.3571=20/56",null,80332,"20p13","NM_025220","rs2280091|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279;MET764THR|\"Chronic_obstructive_pulmonary_disease_association_with\"|20003279",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v659",39,39,1,{"$nulls":3},"A有","32629A","ADAM33","chr20:3651742","c.2151G>C(exon19)","p.G717G","rs528557",0.39,0.23,0.25,0.2,0.17,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16784537;19146844;19236319;19284602;19317339",{"$nulls":3},5,null,8,0,"ADAM33",1,41,"同义",13203,"1.0000=43/43",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v660",47,24,0.51,{"$nulls":3},"A有","32629A","ADAM33","chr20:3651765","c.2128G>A(exon19)","p.V710I","rs3918396",0.048,0.019,0.019,0.019,0.012,0.025,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","12695330;16784537;17878941;18778489;19236319",{"$nulls":3},3,null,8,0,"ADAM33",1,41,"非同义",12120,"0.5294=27/51",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v661",16,6,0.38,{"$nulls":3},"A有","32629A","ADAM33","chr20:3652298","c.1835T>A(exon16)","p.L612H","rs41453444",0.0058,0.029,0.033,0.024,0.008,0.042,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,8,0,"ADAM33",1,41,"非同义",12110,"0.3529=6/17",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v662",4,2,0.5,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,8,0,"ADAM33",1,41,"同义",13203,"0.5000=2/4",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v663",40,18,0.45,{"$nulls":3},"A有","32629A","ADAM33","chr20:3657803","c.178-13T>C(exon3)","非编码区","rs568251",0.9,0.96,0.97,0.96,null,0.97,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAM33",1,41,"非编码区",16202,"0.4524=19/42",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v664",38,17,0.45,{"$nulls":3},"A有","32629A","ADAM33","chr20:3657804","c.178-14A>T(exon3)","非编码区","rs597165",0.9,0.96,0.97,0.96,null,0.97,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAM33",1,41,"非编码区",16202,"0.4500=18/40",null,80332,"20p13","NM_025220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v665",327,164,0.5,{"$nulls":3},"A有","32629A","ADAM7","chr8:24339679","c.730G>A(exon9)","p.V244M","rs13255694",0.26,0.17,0.14,0.19,0.2,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM7",1,230,"非同义",12210,"0.5040=191/379",null,8756,"8p21.2","NM_003817",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v666",262,128,0.49,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,3,0,"ADAM7",1,230,"非同义",12210,"0.4816=144/299",null,8756,"8p21.2","NM_003817","ASN638HIS|\"Schizophrenia_association_with\"|19435634",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v667",217,107,0.49,{"$nulls":3},"A有","32629A","ADAM7","chr8:24359068","c.2187G>A(exon20)","p.L729L","rs13277171",0.26,0.18,0.15,0.2,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAM7",1,230,"同义",13203,"0.4653=114/245",null,8756,"8p21.2","NM_003817",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v668",36,36,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非编码区",14200,"1.0000=41/41",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v669",57,57,1,{"$nulls":3},"A有","32629A","ADAM8","chr10:135076596","c.*64A>G(exon23)","非编码区","rs2230576",0.74,0.93,0.91,0.94,0.9,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非编码区",14200,"1.0000=66/66",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v670",59,59,1,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,11,0,"ADAM8",1,42,"非同义",12220,"1.0000=65/65",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v671",18,18,1,{"$nulls":3},"A有","32629A","ADAM8","chr10:135084232-135084233","c.1634+7(exon15)_c.1634+8(exon15)insTCT","非编码区","rs5789159",null,0.95,0.95,0.95,0.05,0.95,"纯合","未知","内含子突变",{"$nulls":4},4,null,11,0,"ADAM8",1,42,"非编码区",2500,"1.0000=18/18",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v672",25,25,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"非编码区",16202,"1.0000=27/27",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v673",21,21,1,{"$nulls":3},"A有","32629A","ADAM8","chr10:135085321","c.1095G>A(exon11)","p.A365A","rs1131720",0.85,0.94,0.93,0.94,0.73,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ADAM8",1,42,"同义",13203,"1.0000=23/23",null,101,"10q26.3","NM_001109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v705",28,10,0.36,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5140632","c.52T>C(exon1)","p.L18L","rs270208",0.62,0.8,0.82,0.77,0.76,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"同义",13203,"0.3939=13/33",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v706",33,13,0.39,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5146223","c.176-20G>C(exon3)","非编码区","rs1871468",0.79,0.65,0.67,0.63,0.66,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19423552,{"$nulls":3},5,null,10,0,"ADAMTS16",1,95,"非编码区",16202,"0.3889=14/36",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v707",55,33,0.6,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5146335","c.268C>G(exon3)","p.P90A","rs2086310",0.7,0.49,0.49,0.48,0.52,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19423552,{"$nulls":3},5,null,10,0,"ADAMTS16",1,95,"非同义",12220,"0.5862=34/58",null,170690,"5p15","NM_139056","PRO90ALA|\"Increased_systolic_blood_pressure_association_with\"|19423552",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v708",67,67,1,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5146395","c.328A>G(exon3)","p.M110V","rs1863968",0.48,0.39,0.35,0.43,0.42,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"非同义",12220,"1.0000=68/68",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v709",91,34,0.37,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5200281","c.1350C>T(exon9)","p.C450C","rs6555335",0.73,0.83,0.82,0.84,0.83,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"同义",13203,"0.3824=39/102",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v710",132,61,0.46,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5239862","c.2347A>G(exon16)","p.T783A","rs147650341",3.8E-3,0.014,0.014,0.015,0.017,0.013,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,10,0,"ADAMTS16",1,95,"非同义",12120,"0.4483=65/145",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v711",150,84,0.56,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5239921","c.2406C>T(exon16)","p.T802T","rs11742341",0.11,0.099,0.081,0.12,0.088,0.089,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"同义",13203,"0.5569=93/167",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v712",105,59,0.56,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5240002","c.2487C>A(exon16)","p.I829I","rs11742370",0.11,0.099,0.081,0.12,0.089,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"同义",13203,"0.5487=62/113",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v713",85,35,0.41,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5262766","c.2663-4G>A(exon18)","非编码区","rs34433845",0.22,0.11,0.11,0.1,0.12,0.1,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"非编码区",16202,"0.3854=37/96",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v714",7,3,0.43,{"$nulls":3},"A有","32629A","ADAMTS16","chr5:5319407","c.*156T>G(exon23)","非编码区","rs16875319",0.37,0.54,0.54,0.54,0.54,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ADAMTS16",1,95,"非编码区",14200,"0.3750=3/8",null,170690,"5p15","NM_139056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v715",16,6,0.38,{"$nulls":3},"A有","32629A","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",0.89,82,"非编码区",14200,"0.3529=6/17",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v716",16,6,0.38,{"$nulls":3},"A有","32629A","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",0.89,82,"非编码区",14200,"0.3529=6/17",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v717",46,20,0.43,{"$nulls":3},"A有","32629A","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",0.89,82,"非编码区",14200,"0.4375=21/48",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v718",60,23,0.38,{"$nulls":3},"A有","32629A","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",0.89,82,"非编码区",14200,"0.3968=25/63",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v719",70,28,0.4,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100514561","c.*46C>G(exon22)","非编码区","rs2581340",{"$nulls":4},0.52,0.53,"杂合","未知","UTR突变可能影响蛋白翻译",null,"Weill-Marchesani样综合症","AR",613195,3,3,16,1,"ADAMTS17",0.89,82,"非编码区",14300,"0.4000=30/75",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v720",79,35,0.44,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100514614","c.3281A>G(exon22)","p.N1094S","rs2573652",0.68,0.56,0.58,0.53,0.57,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19330903,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",0.89,82,"非同义",12220,"0.4353=37/85",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v721",59,29,0.49,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100589056","c.2591+6A>G(exon18)","非编码区","rs8028251",0.37,0.49,0.5,0.48,0.5,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",0.89,82,"非编码区",16202,"0.4722=34/72",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v722",76,44,0.58,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100594271","c.2138-12C>T(exon16)","非编码区","rs28529328",0.31,0.43,0.44,0.42,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",0.89,82,"非编码区",16202,"0.5341=47/88",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v723",87,41,0.47,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100636586","c.2112C>T(exon15)","p.G704G","rs4965583",0.26,0.54,0.52,0.55,0.5,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",0.89,82,"同义",13203,"0.4286=42/98",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v724",70,70,1,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100672237","c.1696A>C(exon12)","p.R566R","rs12907333",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,1,16,1,"ADAMTS17",0.89,82,"同义",13203,"1.0000=81/81",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v725",48,19,0.4,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100692845","c.1445T>C(exon10)","p.M482T","rs28567966",0.15,0.065,0.062,0.068,0.062,0.053,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19330903,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",0.89,82,"非同义",12220,"0.4182=23/55",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v726",141,141,1,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100794363","c.1053G>A(exon7)","p.K351K","rs4369638",0.82,0.86,0.84,0.88,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,1,16,1,"ADAMTS17",0.89,82,"同义",13203,"1.0000=162/162",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v727",78,40,0.51,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100801698","c.1017C>T(exon6)","p.A339A","rs4965613",0.69,0.61,0.59,0.62,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,3,16,1,"ADAMTS17",0.89,82,"同义",13203,"0.5521=53/96",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v728",68,68,1,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100821426","c.789+8C>T(exon4)","非编码区","rs7496614",0.35,0.29,0.29,0.29,0.3,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,1,16,1,"ADAMTS17",0.89,82,"非编码区",16203,"1.0000=83/83",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v729",65,65,1,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100821467","c.756C>T(exon4)","p.A252A","rs7496640",null,0.49,0.5,0.49,0.52,0.54,"纯合","未知","预测范围之外的同义突变",null,"Weill-Marchesani样综合症","AR",613195,4,1,16,1,"ADAMTS17",0.89,82,"同义",13303,"1.0000=79/79",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v730",34,34,1,{"$nulls":3},"A有","32629A","ADAMTS17","chr15:100821576","c.647C>T(exon4)","p.S216L","rs7496668",0.48,0.49,0.5,0.49,0.52,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Weill-Marchesani样综合症","AR",613195,5,1,16,1,"ADAMTS17",0.89,82,"非同义",12210,"1.0000=42/42",null,170691,"15q24","NM_139057",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v731",6,3,0.5,{"$nulls":3},"A有","32629A","ADAMTS18","chr16:77317591","c.*262A>G(exon23)","非编码区","rs889706",0.18,0.19,0.23,0.14,0.17,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,8,1,"ADAMTS18",1,130,"非编码区",14200,"0.4286=3/7",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v732",47,24,0.51,{"$nulls":3},"A有","32629A","ADAMTS18","chr16:77317756","c.*97C>T(exon23)","非编码区","rs889707",0.17,0.18,0.22,0.14,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,8,1,"ADAMTS18",1,130,"非编码区",14200,"0.5400=27/50",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v733",122,62,0.51,{"$nulls":3},"A有","32629A","ADAMTS18","chr16:77323235","c.3476G>C(exon22)","p.S1159T","rs3743749",0.18,0.2,0.24,0.16,0.18,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,3,8,1,"ADAMTS18",1,130,"非同义",12220,"0.5194=67/129",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v734",108,108,1,{"$nulls":3},"A有","32629A","ADAMTS18","chr16:77353973","c.2305C>A(exon16)","p.L769I","rs9930984",0.63,0.88,0.86,0.89,0.88,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,8,1,"ADAMTS18",1,130,"非同义",12220,"1.0000=117/117",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v735",105,56,0.53,{"$nulls":3},"A有","32629A","ADAMTS18","chr16:77359768","c.2027T>C(exon13)","p.V676A","rs201322928",0.0002,0.0024,0,0.0049,0.00073,3.5E-4,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,2,3,8,1,"ADAMTS18",1,130,"非同义",12110,"0.5526=63/114",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v736",144,144,1,{"$nulls":3},"A有","32629A","ADAMTS18","chr16:77359919","c.1876T>A(exon13)","p.L626I","rs11640912",0.44,0.88,0.86,0.89,0.87,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,8,1,"ADAMTS18",1,130,"非同义",12220,"1.0000=155/155",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v737",130,129,0.99,{"$nulls":3},"A有","32629A","ADAMTS18","chr16:77389956","c.1341T>C(exon9)","p.D447D","rs8059275",0.88,0.88,0.87,0.9,0.92,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,8,1,"ADAMTS18",1,130,"同义",13203,"0.9864=145/147",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v738",68,68,1,{"$nulls":3},"A有","32629A","ADAMTS18","chr16:77401545","c.571T>C(exon4)","p.Y191H","rs11643211",0.37,0.56,0.57,0.55,0.58,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19844255,"小角膜近视视网膜脉络膜萎缩和内眦距过宽","AR",615458,5,1,8,1,"ADAMTS18",1,130,"非同义",12220,"1.0000=74/74",null,170692,"16q23","NM_199355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v739",182,81,0.45,{"$nulls":3},"A有","32629A","ADAMTS19","chr5:128844838","c.798A>G(exon3)","p.T266T","rs28630040",0.13,0.084,0.1,0.063,0.083,0.077,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS19",1,160,"同义",13203,"0.4698=101/215",null,171019,"5q23.3","NM_133638",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v740",273,273,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"ADAMTS19",1,160,"非同义",12220,"1.0000=306/306",null,171019,"5q23.3","NM_133638",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v741",76,76,1,{"$nulls":3},"A有","32629A","ADAMTS19","chr5:129072943","c.*32G>T(exon23)","非编码区","rs1465686",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS19",1,160,"非编码区",14200,"1.0000=98/98",null,171019,"5q23.3","NM_133638",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v742",3,3,1,{"$nulls":3},"A有","32629A","ADAMTS19","chr5:129073197","c.*286T>G(exon23)","非编码区","rs1549892",0.95,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS19",1,160,"非编码区",14200,"1.0000=3/3",null,171019,"5q23.3","NM_133638",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v751",110,54,0.49,{"$nulls":3},"A有","32629A","ADAMTS2","chr5:178540975","c.3529C>T(exon22)","p.P1177S","rs1054480",0.26,0.27,0.26,0.28,0.29,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23491141,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.98,57,"非同义",12220,"0.5207=63/121",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v752",15,7,0.47,{"$nulls":3},"A有","32629A","ADAMTS2","chr5:178549791","c.2959-17C>T(exon20)","非编码区","rs2303641",0.25,0.29,0.3,0.28,0.31,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.98,57,"非编码区",16202,"0.5000=9/18",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v753",59,24,0.41,{"$nulls":3},"A有","32629A","ADAMTS2","chr5:178567054","c.1630-18T>C(exon11)","非编码区","rs2303638",0.24,0.3,0.3,0.29,0.31,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.98,57,"非编码区",16202,"0.3692=24/65",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v754",40,20,0.5,{"$nulls":3},"A有","32629A","ADAMTS2","chr5:178581797","c.1238+18G>A(exon7)","非编码区","rs2278222",0.23,0.29,0.3,0.28,0.31,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.98,57,"非编码区",16203,"0.4884=21/43",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v755",39,18,0.46,{"$nulls":3},"A有","32629A","ADAMTS2","chr5:178581859","c.1194C>T(exon7)","p.D398D","rs2278221",0.23,0.28,0.29,0.27,0.3,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.98,57,"同义",13203,"0.4419=19/43",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v756",31,31,1,{"$nulls":3},"A有","32629A","ADAMTS2","chr5:178634619","c.786G>A(exon4)","p.A262A","rs423552",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,1,7,1,"ADAMTS2",0.98,57,"同义",13203,"1.0000=32/32",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v757",38,22,0.58,{"$nulls":3},"A有","32629A","ADAMTS2","chr5:178634672","c.733G>A(exon4)","p.V245I","rs398829",0.43,0.63,0.68,0.59,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"爱唐综合症(皮肤弹力过度症)7C型（皮肤脆裂型）","AR",225410,5,3,7,1,"ADAMTS2",0.98,57,"非同义",12220,"0.6098=25/41",null,9509,"5qter","NM_014244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v749",74,40,0.54,{"$nulls":3},"A有","32629A","ADAMTS20","chr12:43819298","c.4284+19C>T(exon28)","非编码区","rs10785430",0.66,0.88,0.89,0.86,0.86,0.86,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS20",1,170,"非编码区",16203,"0.5385=42/78",null,80070,"12q12","NM_025003",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v750",295,145,0.49,{"$nulls":3},"A有","32629A","ADAMTS20","chr12:43860526","c.1296T>C(exon9)","p.P432P","rs11182088",0.43,0.79,0.82,0.77,0.76,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS20",1,170,"同义",13203,"0.4827=167/346",null,80070,"12q12","NM_025003",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v758",171,171,1,{"$nulls":3},"A有","32629A","ADAMTS3","chr4:73414286","c.413G>A(exon3)","p.R138K","rs788908",0.64,0.66,0.65,0.68,0.7,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ADAMTS3",1,150,"非同义",12220,"1.0000=197/197",null,9508,"4q13.3","NM_014243",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v759",116,116,1,{"$nulls":3},"A有","32629A","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,"纯合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ADAMTS3",1,150,"非编码区",2500,"1.0000=122/122",null,9508,"4q13.3","NM_014243",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v760",76,38,0.5,{"$nulls":3},"A有","32629A","ADAMTS4","chr1:161163037","c.1877A>G(exon7)","p.Q626R","rs4233367",0.71,0.88,0.89,0.88,0.91,0.9,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19064571,{"$nulls":3},5,null,3,0,"ADAMTS4",1,51,"非同义",12220,"0.5244=43/82",null,9507,"1q21-q23","NM_005099",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v761",70,39,0.56,{"$nulls":3},"A有","32629A","ADAMTS4","chr1:161163633","c.1549-17G>A(exon6)","非编码区","rs3813622",null,0.89,0.89,0.89,0.91,0.9,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"ADAMTS4",1,51,"非编码区",16302,"0.5476=46/84",null,9507,"1q21-q23","NM_005099",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v762",24,11,0.46,{"$nulls":3},"A有","32629A","ADAMTS4","chr1:161168004","c.414G>A(exon1)","p.S138S","rs33941127",0.37,0.47,0.46,0.47,0.54,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ADAMTS4",1,51,"同义",13203,"0.4800=12/25",null,9507,"1q21-q23","NM_005099",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v763",33,23,0.7,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79054900","c.4748G>C(exon23)","p.G1583A","rs7495616",0.67,0.59,0.6,0.57,0.56,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"非同义",12220,"0.7027=26/37",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v764",24,16,0.67,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79054918-79054919","c.4741-12(exon23)_c.4741-11(exon23)insC","非编码区","rs74316827",0.099,0.35,0.33,0.36,0.23,0.37,"杂合","未知","内含子突变",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"非编码区",2500,"0.6296=17/27",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+简单重复结构","非阳性"]
["32629A(745)v765",26,4,0.15,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79058013","c.4240G>A(exon19)","p.G1414S","rs2929155",0.67,0.58,0.6,0.57,0.51,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"非同义",12220,"0.2000=6/30",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v766",13,4,0.31,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79058307","c.3946T>A(exon19)","p.S1316T","rs200436984",{"$nulls":4},0.39,0.025,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,19,0,"ADAMTS7",1,47,"非同义",12320,"0.3077=4/13",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v767",13,4,0.31,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79058317","c.3936G>A(exon19)","p.P1312P","rs746840767",{"$nulls":4},0.4,0.021,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"同义",13303,"0.3077=4/13",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v768",14,3,0.21,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79058339","c.3914T>G(exon19)","p.V1305G","rs199823022",{"$nulls":4},0.37,0.015,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,19,0,"ADAMTS7",1,47,"非同义",12320,"0.2143=3/14",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v769",22,5,0.23,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79058445","c.3808C>T(exon19)","p.P1270S","rs76784555",{"$nulls":4},0.26,0.26,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,19,0,"ADAMTS7",1,47,"非同义",12310,"0.2000=5/25",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v770",21,21,1,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79058572","c.3681A>C(exon19)","p.R1227R","rs1809421",null,0.98,0.99,0.98,0.98,0.99,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"同义",13303,"1.0000=22/22",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v771",32,32,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"1.0000=38/38",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v772",32,18,0.56,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79059013","c.3240C>T(exon19)","p.P1080P","rs139248514",8.6E-3,0.053,0.062,0.044,0.052,0.037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"同义",13103,"0.5641=22/39",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v773",26,14,0.54,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"非编码区",16202,"0.5556=15/27",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v774",28,28,1,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79065562","c.2011-17T>C(exon14)","非编码区","rs8036224",null,1,1,1,1,1,"纯合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,19,0,"ADAMTS7",1,47,"非编码区",16302,"1.0000=29/29",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v775",37,15,0.41,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"0.4103=16/39",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v776",31,18,0.58,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79066653","c.1877-11T>C(exon13)","非编码区","rs57708073",0.34,0.41,0.4,0.42,0.42,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"非编码区",16202,"0.5758=19/33",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v777",52,17,0.33,{"$nulls":3},"A有","32629A","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,19,0,"ADAMTS7",1,47,"非编码区",16303,"0.3091=17/55",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v778",39,16,0.41,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"0.4222=19/45",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v779",33,7,0.21,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79083120","c.920C>T(exon6)","p.T307M","rs2127898",{"$nulls":4},0.38,0.32,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,19,0,"ADAMTS7",1,47,"非同义",12310,"0.2368=9/38",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v780",37,37,1,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79089007","c.744A>G(exon4)","p.V248V","rs3743057",0.79,0.88,0.87,0.88,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"1.0000=39/39",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v781",23,11,0.48,{"$nulls":3},"A有","32629A","ADAMTS7","chr15:79092603","c.387C>T(exon2)","p.H129H","rs6495329",0.41,0.34,0.33,0.36,0.4,0.34,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"ADAMTS7",1,47,"同义",13203,"0.4483=13/29",null,11173,"15q24.2","NM_014272",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v782",13,11,0.85,{"$nulls":3},"A有","32629A","ADAMTS8","chr11:130275346","c.*107C>T(exon9)","非编码区","rs2242312",0.16,0.24,0.25,0.23,0.3,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ADAMTS8",1,49,"非编码区",14200,"0.8235=14/17",null,11095,"11q25","NM_007037",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v808",96,45,0.47,{"$nulls":3},"A有","32629A","ADAMTSL3","chr15:84639350","c.2605C>T(exon20)","p.L869F","rs2277849",0.26,0.33,0.35,0.31,0.37,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ADAMTSL3",1,150,"非同义",12220,"0.4513=51/113",null,57188,"15q25.2","NM_207517",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v846",63,30,0.48,{"$nulls":3},"A有","32629A","ADCK3","chr1:227174145","c.1660-9T>C(exon15)","非编码区","rs7552783",0.35,0.24,0.25,0.24,0.24,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性脊髓小脑性共济失调9型/原发性辅酶Q10缺陷症4型","AR",612016,5,3,4,1,"ADCK3",1,59,"非编码区",16202,"0.5147=35/68",null,56997,"1q42.13","NM_020247",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v876",33,17,0.52,{"$nulls":3},"A有","32629A","ADCY9","chr16:4016943","c.2895T>C(exon11)","p.S965S","rs2230741",0.17,0.23,0.22,0.24,0.19,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ADCY9",1,71,"同义",13203,"0.5429=19/35",null,115,"16p13.3","NM_001116",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v901",117,117,1,{"$nulls":3},"A有","32629A","ADH4","chr4:100052733","c.765G>T(exon6)","p.P255P","rs1126670",0.85,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16685648;17069770;17185388;19193628;19298322",{"$nulls":3},5,null,7,0,"ADH4",1,160,"同义",13203,"1.0000=124/124",null,127,"4q22","NM_000670",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v973",130,130,1,{"$nulls":3},"A有","32629A","AFAP1","chr4:7783163","c.1722C>T(exon13)","p.S574S","rs28542374",0.63,0.82,0.86,0.79,0.82,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"AFAP1",1,120,"同义",13203,"1.0000=143/143",null,60312,"4p16","NM_001134647",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v990",45,45,1,{"$nulls":3},"A有","32629A","AFP","chr4:74318330","c.1641A>G(exon12)","p.T547T","rs4235117",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,"遗传性α甲胎蛋白持续存在",null,615970,5,1,4,2,"AFP",1,160,"同义",13203,"1.0000=51/51",null,174,"4q13.3","NM_001134",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1016",144,64,0.44,{"$nulls":3},"A有","32629A","AGBL1","chr15:86814866","c.1866A>G(exon14)","p.L622L","rs11858435",0.68,0.4,0.43,0.37,0.4,0.38,"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",615523,5,1,6,1,"AGBL1",1,120,"同义",13203,"0.4410=71/161",null,123624,"15q25.3","NM_152336",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1080",21,21,1,{"$nulls":3},"A有","32629A","AHDC1","chr1:27876482","c.2145G>T(exon6)","p.P715P","rs2076457",0.79,0.81,0.8,0.83,0.77,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"XIA-GIBBS综合征","AD",615829,5,1,2,1,"AHDC1",1,31,"同义",13203,"1.0000=21/21",null,27245,"1p36.13","NM_001029882",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1100",194,89,0.46,{"$nulls":3},"A有","32629A","AHNAK2","chr14:105410827","c.10961G>A(exon7)","p.G3654E","rs28380382",0.55,0.4,0.44,0.35,0.4,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,70,0,"AHNAK2",1,200,"非同义",12210,"0.4749=104/219",null,113146,"14q32.33","NM_138420",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1130",197,79,0.4,{"$nulls":3},"A有","32629A","AHNAK2","chr14:105416971","c.4817A>C(exon7)","p.K1606T","rs77454674",0.03,0.12,0.14,0.097,0.11,0.14,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,70,0,"AHNAK2",1,200,"非同义",12110,"0.3820=89/233",null,113146,"14q32.33","NM_138420",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1166",116,59,0.51,{"$nulls":3},"A有","32629A","AICDA","chr12:8759445","c.156+16G>A(exon2)","非编码区","rs2518144",null,0.78,0.73,0.82,0.8,0.8,"杂合","未知","内含子突变可能影响调控",null,"免疫缺陷伴高IgM2型","AR",605258,4,3,2,1,"AICDA",1,120,"非编码区",16303,"0.4306=62/144",null,57379,"12p13","NM_020661",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1220",87,35,0.4,{"$nulls":3},"A有","32629A","AKAP10","chr17:19835112","c.1641+6G>A(exon10)","非编码区","rs61749865",0.08,0.07,0.086,0.053,0.064,0.078,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"心脏传导缺陷症","AD",115080,5,1,3,1,"AKAP10",1,130,"非编码区",16202,"0.3960=40/101",null,11216,"17p11.1","NM_007202",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1250",22,10,0.45,{"$nulls":3},"A有","32629A","AKAP13","chr15:86125304","c.4005C>T(exon7)","p.I1335I","rs7179919",0.19,0.31,0.28,0.35,0.32,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"AKAP13",0.99,110,"同义",13203,"0.4545=10/22",null,11214,"15q24-q25","NM_006738",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1308",160,80,0.5,{"$nulls":3},"A有","32629A","AKR1B10","chr7:134216684","c.259C>T(exon3)","p.P87S","rs2303312",0.066,0.26,0.27,0.24,0.23,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AKR1B10",1,200,"非同义",12220,"0.4917=89/181",null,57016,"7q33","NM_020299",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1348",32,15,0.47,{"$nulls":3},"A有","32629A","AKT1","chr14:105239894","c.726G>A(exon9)","p.E242E","rs1130233",0.32,0.6,0.64,0.56,0.58,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18497887;16260726;16395129;17464696;18715757","Proteus 综合征/普罗特斯综合征/变形综合征",null,176920,5,2,1,6,"AKT1",1,69,"同义",13203,"0.5000=18/36",null,207,"14q32.32","NM_005163","rs1130233|\"Schizophrenia_familial_association_with\"|18497887",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1374",86,39,0.45,{"$nulls":3},"A有","32629A","ALDH1L1","chr3:125872384","c.761T>C(exon7)","p.L254P","rs3796191",0.064,0.026,0.024,0.029,0.023,0.02,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ALDH1L1",1,87,"非同义",12220,"0.4796=47/98",null,10840,"3q21.3","NM_012190",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1400",29,29,1,{"$nulls":3},"A有","32629A","ALDH3B2","chr11:67434416","c.-10G>T(exon3)","非编码区","rs4646823",0.81,0.91,0.92,0.9,0.88,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ALDH3B2",1,95,"非编码区",14200,"1.0000=34/34",null,222,"11q13","NM_000695",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1472",58,28,0.48,{"$nulls":3},"A有","32629A","ALOX12","chr17:6902760","c.782A>G(exon6)","p.Q261R","rs1126667",0.6,0.52,0.52,0.52,0.5,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16514435;18640486;18992148;19774229;20626912",{"$nulls":3},5,null,7,0,"ALOX12",1,83,"非同义",12220,"0.4746=28/59",null,239,"17p13.1","NM_000697","rs1126667|\"Esential_hypertension_association_with\"|16514435",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1501",85,85,1,{"$nulls":3},"A有","32629A","ALPK2","chr18:56204250","c.3169T>G(exon5)","p.L1057V","rs3809976",0.67,0.79,0.81,0.77,0.77,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,31,0,"ALPK2",1,84,"非同义",12220,"1.0000=91/91",null,115701,"18q21.31","NM_052947",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1525",53,53,1,{"$nulls":3},"A有","32629A","ALPL","chr1:21889635","c.330T>C(exon5)","p.S110S","rs1780316",0.93,0.99,0.99,0.99,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","幼儿型低磷酸酯酶症","AR",241510,5,1,6,3,"ALPL",1,67,"同义",13203,"1.0000=60/60",null,249,"1p36.12","NM_000478",null,"rs1780316|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"]
["32629A(745)v1568",21,8,0.38,{"$nulls":3},"A有","32629A","AMDHD2","chr16:2579681","c.*117C>G(exon10)","非编码区","rs367960426",2.8E-3,0.017,0.014,0.019,0.031,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"AMDHD2",1,46,"非编码区",14100,"0.3636=8/22",null,51005,"16p13.3","NM_015944",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1591",72,25,0.35,{"$nulls":3},"A有","32629A","AMPD2","chr1:110169933","c.1017C>T(exon8)","p.D339D","rs114463063",0.0008,0,0,0,null,0.00023,"杂合","未知","预测范围之外的同义突变",null,"桥脑小脑发育不全9型","AR",615809,4,3,6,2,"AMPD2",1,58,"同义",13103,"0.3649=27/74",null,271,"1p13.3","NM_001257360",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1618",112,112,1,{"$nulls":3},"A有","32629A","ANGPTL5","chr11:101771248","c.574C>T(exon7)","p.R192W","rs3858418",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ANGPTL5",1,210,"非同义",12220,"1.0000=123/123",null,253935,"11q22.1","NM_178127",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1646",39,39,1,{"$nulls":3},"A有","32629A","ANKK1","chr11:113270374","c.1683C>T(exon8)","p.Y561Y","rs2734848",null,0.95,0.96,0.95,0.96,0.96,"纯合","未知","预测范围之外的同义突变",21095016,{"$nulls":3},4,null,7,0,"ANKK1",1,59,"同义",13303,"1.0000=42/42",null,255239,"11q23.2","NM_178510",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1716",14,4,0.29,{"$nulls":3},"A有","32629A","ANKRD20A4","chr9:69423490","c.1786A>G(exon15)","p.K596E","rs376313623",{"$nulls":4},0.063,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,29,0,"ANKRD20A4",0.99,300,"非同义",12310,"0.3571=5/14",null,728747,"9q21.11","NM_001098805",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1746",27,15,0.56,{"$nulls":3},"A有","32629A","ANKRD23","chr2:97508082","c.174+20C>G(exon2)","非编码区","rs58147284",0.22,0.079,0.081,0.078,0.055,0.061,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ANKRD23",1,44,"非编码区",16203,"0.5357=15/28",null,200539,"2q11.2","NM_144994",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1778",428,95,0.22,{"$nulls":3},"A有","32629A","ANKRD30A","chr10:37433914","c.1226-9T>C(exon8)","非编码区","rs200410911",{"$nulls":4},0.11,0,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,9,0,"ANKRD30A",1,390,"非编码区",16302,"0.2260=113/500",null,91074,"10p11.21","NM_052997",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1827",272,157,0.58,{"$nulls":3},"A有","32629A","ANKRD36B","chr2:98129817","c.2631A>G(exon38)","p.I877M","rs199911436",{"$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",{"$nulls":4},3,null,31,0,"ANKRD36B",1,380,"非同义",12320,"0.5914=178/301",null,57730,"2q11.2","NM_025190",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1970",39,39,1,{"$nulls":3},"A有","32629A","ANKRD52","chr12:56647911","c.846C>G(exon8)","p.S282S","rs808919",0.8,0.97,0.98,0.97,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ANKRD52",1,65,"同义",13203,"1.0000=42/42",null,283373,"12q13.3","NM_173595",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v1998",6,6,1,{"$nulls":3},"A有","32629A","ANKS3","chr16:4746829","c.*80T>C(exon18)","非编码区","rs841216",0.52,0.7,0.67,0.73,0.65,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ANKS3",1,51,"非编码区",14200,"1.0000=6/6",null,124401,"16p13.3","NM_133450",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2059",259,259,1,{"$nulls":3},"A有","32629A","ANP32D","chr12:48866585","c.138A>C(exon1)","p.L46F","rs7956679",0.29,0.67,0.69,0.66,0.62,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ANP32D",1,280,"非同义",12220,"1.0000=291/291",null,23519,"12q13.11","NM_012404",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2088",126,126,1,{"$nulls":3},"A有","32629A","ANXA8L2","chr10:47746978","c.-134C>A(exon1)","非编码区","rs61842918",null,0.81,0.84,0.77,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"ANXA8L2",1,240,"非编码区",14300,"1.0000=145/145",null,244,"10q11.22","NM_001630",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2114",52,22,0.42,{"$nulls":3},"A有","32629A","AP2A2","chr11:1009416","c.2610+19C>T(exon20)","非编码区","rs7126709",0.31,0.25,0.27,0.24,0.25,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"AP2A2",1,79,"非编码区",16203,"0.4643=26/56",null,161,"11p15.5","NM_001242837",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2163",110,110,1,{"$nulls":3},"A有","32629A","APC","chr5:112177171","c.5880G>A(exon17)","p.P1960P","rs465899",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;15768050;16569251;17221838;20333795","胃癌",null,613659,5,1,7,5,"APC",0.98,130,"同义",13203,"1.0000=129/129",null,324,"5q21-q22","NM_001127510",null,"rs465899|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"]
["32629A(745)v2187",21,21,1,{"$nulls":3},"A有","32629A","APOA1BP","chr1:156563992","c.*116C>G(exon6)","非编码区","rs1271",0.93,0.96,0.99,0.94,0.96,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"APOA1BP",1,67,"非编码区",14200,"1.0000=24/24",null,128240,"1q21","NM_144772",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2198",56,26,0.46,{"$nulls":3},"A有","32629A","APOBEC2","chr6:41029342","c.407T>C(exon2)","p.I136T","rs2076472",0.18,0.26,0.29,0.24,0.24,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25687184,{"$nulls":3},5,null,2,0,"APOBEC2",1,59,"非同义",12220,"0.4194=26/62",null,10930,"6p21","NM_006789",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2234",224,104,0.46,{"$nulls":3},"A有","32629A","APOH","chr17:64208285","c.1004G>C(exon8)","p.W335S","rs1801690",0.037,0.053,0.071,0.034,0.06,0.069,"杂合","可能相关","Provean软件蛋白结构预测可能有害","9063752;18676959",{"$nulls":3},2,null,7,0,"APOH",1,160,"非同义",12110,"0.4861=122/251",null,350,"17q24.2","NM_000042","TRP335SER|\"Apolipoprotein_H_deficiency_association_with\"|9063752",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2301",36,25,0.69,{"$nulls":3},"A有","32629A","AQP3","chr9:33447547","c.-19C>A(exon1)","非编码区","rs12555686",0.079,0.12,0.13,0.12,0.11,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"GIL血型",null,607457,5,2,5,1,"AQP3",1,100,"非编码区",14200,"0.6750=27/40",null,360,"9p13","NM_004925",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2332",7,3,0.43,{"$nulls":3},"A有","32629A","AQPEP","chr5:115362148","c.*333A>G(exon20)","非编码区","rs1508886",0.62,0.76,0.73,0.8,0.72,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"AQPEP",1,170,"非编码区",14200,"0.3333=3/9",null,206338,"5q23.1","NM_173800",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2362",153,72,0.47,{"$nulls":3},"A有","32629A","ARGFX","chr3:121289594","c.34C>T(exon2)","p.P12S","rs147644178",0.011,0.07,0.052,0.087,0.097,0.06,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"ARGFX",0.88,89,"非同义",12120,"0.4270=76/178",null,503582,"3q13.33","NM_001012659",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2439",57,26,0.46,{"$nulls":3},"A有","32629A","ARHGAP4","chrX:153176254","c.1836T>C(exon16)","p.H612H","rs2070097",null,0.73,0.7,0.76,0.63,0.74,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ARHGAP4",1,51,"同义",13303,"0.4286=27/63",null,393,"Xq28","NM_001164741",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2452",33,33,1,{"$nulls":3},"A有","32629A","ARHGEF10L","chr1:18023365","c.3330C>T(exon29)","p.N1110N","rs2270978",0.78,0.85,0.83,0.88,0.81,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ARHGEF10L",1,61,"同义",13203,"1.0000=37/37",null,55160,"1p36.13","NM_018125",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2481",2,2,1,{"$nulls":3},"A有","32629A","ARHGEF16","chr1:3397415-3397416","c.*264(exon15)_c.*265(exon15)insCT","非编码区","rs142007270",0.97,1,1,1,0.25,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ARHGEF16",1,55,"非编码区",2420,"1.0000=3/3",null,27237,"1p36.3","NM_014448",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2556",64,20,0.31,{"$nulls":3},"A有","32629A","ARID3C","chr9:34622389","c.1003T>G(exon5)","p.C335G","rs3808869",0.6,0.51,0.55,0.48,0.53,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ARID3C",1,43,"非同义",12220,"0.3188=22/69",null,138715,"9p13.3","NM_001017363",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2590",261,127,0.49,{"$nulls":3},"A有","32629A","ARL6","chr3:97499465","c.192A>G(exon5)","p.S64S","rs140114162",1.8E-3,0.012,0.0095,0.015,0.0087,0.0068,"杂合","未知","预测范围之外的同义突变",null,"Bardet-biedl综合征3型","AR",600151,4,3,2,3,"ARL6",1,260,"同义",13103,"0.4747=141/297",null,84100,"3q11.2","NM_032146",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2608",22,11,0.5,{"$nulls":3},"A有","32629A","ARMC5","chr16:31476458","c.2114C>T(exon4)","p.A705V","rs11150624",0.3,0.47,0.46,0.49,0.47,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"促肾上腺皮质激素非依赖性大结节样肾上腺增生2型","AD",615954,5,1,1,1,"ARMC5",1,40,"非同义",12220,"0.5556=15/27",null,79798,"16p11.2","NM_024742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2637",100,56,0.56,{"$nulls":3},"A有","32629A","ARPC5","chr1:183596703","c.429C>T(exon4)","p.S143S","rs2231241",0.1,0.1,0.12,0.078,0.049,0.073,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ARPC5",1,95,"同义",13203,"0.5385=56/104",null,10092,"1q25.3","NM_001270439",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2704",10,4,0.4,{"$nulls":3},"A有","32629A","ASB14","chr3:57303327","c.*342C>A(exon11)","非编码区",{"$nulls":5},1.4E-3,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ASB14",1,130,"非编码区",14400,"0.3636=4/11",null,142686,"3p21.1","NM_001142733",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2732",45,23,0.51,{"$nulls":3},"A有","32629A","ASB6","chr9:132400480","c.855C>T(exon6)","p.A285A","rs3739851",0.46,0.54,0.6,0.49,0.51,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ASB6",1,51,"同义",13203,"0.5000=25/50",null,140459,"-","NM_017873",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2762",97,97,1,{"$nulls":3},"A有","32629A","ASIC2","chr17:32483237","c.315T>C(exon1)","p.N105N","rs2228990",0.27,0.35,0.32,0.38,0.36,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ASIC2",1,69,"同义",13203,"1.0000=116/116",null,40,"17q12","NM_001094",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2824",32,10,0.31,{"$nulls":3},"A有","32629A","ASXL1","chr20:31025163","c.*22A>G(exon13)","非编码区","rs2295764",0.4,0.76,0.79,0.74,0.74,0.77,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Bohring-Opitz综合征/“C类”综合征","AD",605039,5,1,5,2,"ASXL1",1,82,"非编码区",14200,"0.3030=10/33",null,171023,"20q11","NM_015338",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2852",165,76,0.46,{"$nulls":3},"A有","32629A","ATE1","chr10:123600590","c.1157+7T>C(exon9)","非编码区","rs10886994",0.12,0.18,0.21,0.14,null,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ATE1",1,170,"非编码区",16203,"0.4973=93/187",null,11101,"10q26.13","NM_007041",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2882",123,123,1,{"$nulls":3},"A有","32629A","ATG10","chr5:81549240","c.659C>A(exon8)","p.P220H","rs1864182",0.56,0.91,0.91,0.92,0.93,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23850577,{"$nulls":3},5,null,2,0,"ATG10",1,180,"非同义",12220,"1.0000=135/135",null,83734,"5q14.1","NM_001131028","PRO220HIS|\"Breast_cancer_reduced_risk_association_with\"|23850577",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2945",12,5,0.42,{"$nulls":3},"A有","32629A","ATP10D","chr4:47593532","c.*134G>A(exon23)","非编码区","rs12641970",0.18,0.52,0.51,0.53,0.54,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ATP10D",1,140,"非编码区",14200,"0.3571=5/14",null,57205,"4p12","NM_020453",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v2983",65,33,0.51,{"$nulls":3},"A有","32629A","ATP1A2","chr1:160090682-160090685","c.13-14(exon2)_c.13-11(exon2)delCCTT","非编码区","rs373796693",0.69,0.85,0.87,0.83,0.55,0.84,"杂合","未知","内含子突变","CLINVAR数据库","儿童交替性偏瘫1型","AD",104290,4,1,4,2,"ATP1A2",1,100,"非编码区",2500,"0.5147=35/68",null,477,"1q23.2","NM_000702",null,"rs373796693|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"]
["32629A(745)v2992",62,31,0.5,{"$nulls":3},"A有","32629A","ATP1A4","chr1:160133955","c.788G>A(exon7)","p.R263Q","rs76528638",0.025,0.1,0.09,0.12,0.11,0.11,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,7,0,"ATP1A4",1,120,"非同义",12120,"0.5405=40/74",null,480,"1q23.2","NM_144699",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3059",108,108,1,{"$nulls":3},"A有","32629A","ATP6V0A2","chr12:124209332","c.426T>C(exon4)","p.N142N","rs1139789",0.75,0.94,0.95,0.92,0.93,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"常染色体隐性皮肤松弛症2A型","AR",219200,5,1,5,2,"ATP6V0A2",1,120,"同义",13203,"1.0000=131/131",null,23545,"12q24.31","NM_012463",null,"rs1139789|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"]
["32629A(745)v3084",96,53,0.55,{"$nulls":3},"A有","32629A","ATP6V1C2","chr2:10915216","c.825+19A>G(exon10)","非编码区","rs200013514",1E-3,0.0024,0,0.0049,0.012,5.3E-3,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,10,0,"ATP6V1C2",1,130,"非编码区",16103,"0.5294=54/102",null,245973,"-","NM_001039362",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3107",2,2,1,{"$nulls":3},"A有","32629A","ATP8B1","chr18:55314820","c.*900G>T(exon28)","非编码区","rs4940950",0.47,0.55,0.55,0.54,0.25,null,"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1型","AR",211600,5,1,5,3,"ATP8B1",1,160,"非编码区",14200,"1.0000=2/2",null,5205,"18q21.31","NM_005603",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3128",46,46,1,{"$nulls":3},"A有","32629A","ATP8B4","chr15:50152583","c.3387C>A(exon28)","p.G1129G","rs4774549",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ATP8B4",1,190,"同义",13203,"1.0000=49/49",null,79895,"15q21.2","NM_024837",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3193",79,36,0.46,{"$nulls":3},"A有","32629A","AVL9","chr7:32623477","c.1905C>G(exon16)","p.S635S","rs34778959",0.22,0.18,0.15,0.21,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"AVL9",1,140,"同义",13203,"0.4337=36/83",null,23080,"7p14.3","NM_015060",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3210",69,33,0.48,{"$nulls":3},"A有","32629A","AXIN2","chr17:63554591","c.148C>T(exon2)","p.P50S","rs2240308",0.34,0.32,0.3,0.35,0.31,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16820935;18683894;18790474;19065536;21069480","少牙畸形结直肠癌综合征","AD",608615,5,1,6,2,"AXIN2",1,76,"非同义",12210,"0.4800=36/75",null,8313,"17q23-q24","NM_004655","rs2240308|\"Lung_cancer_association_with\"|16820935",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3240",24,24,1,{"$nulls":3},"A有","32629A","B3GNT2","chr2:62450631","c.*82A>G(exon2)","非编码区","rs3811616",0.19,0.23,0.21,0.24,0.24,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"B3GNT2",1,100,"非编码区",14200,"1.0000=28/28",null,10678,"2p15","NM_006577",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3304",772,408,0.53,{"$nulls":3},"A有","32629A","BAGE2","chr21:11021125","c.*1262G>A(exon9)","非编码区","rs610070",{"$nulls":4},0.44,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,28,0,"BAGE2",1,450,"非编码区",14300,"0.5315=473/890",null,85319,"21p","NM_182482",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3334",65,65,1,{"$nulls":3},"A有","32629A","BAHCC1","chr17:79424516","c.4939A>G(exon16)","p.T1647A","rs12601317",0.65,0.41,0.38,0.44,0.44,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"BAHCC1",1,36,"非同义",12230,"1.0000=74/74",null,57597,"17q25.3","NM_001080519",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3364",32,32,1,{"$nulls":3},"A有","32629A","BAK1","chr6:33541507","c.*73T>C(exon6)","非编码区","rs511515",0.79,0.78,0.83,0.74,0.78,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"BAK1",1,78,"非编码区",14200,"1.0000=35/35",null,578,"6p21.3","NM_001188",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3426",22,22,1,{"$nulls":3},"A有","32629A","BCAR1","chr16:75269267","c.1668T>C(exon6)","p.A556A","rs3169330",0.93,1,0.99,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"BCAR1",1,41,"同义",13203,"1.0000=24/24",null,9564,"16q23.1","NM_001170714",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3452",32,32,1,{"$nulls":3},"A有","32629A","BCL11A","chr2:60687959","c.2088T>C(exon4)","p.S696S","rs7569946",0.83,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"BCL11A",1,64,"同义",13203,"1.0000=36/36",null,53335,"2p16.1","NM_022893",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3489",52,25,0.48,{"$nulls":3},"A有","32629A","BCLAF1","chr6:136599842","c.177C>T(exon4)","p.R59R","rs9942519",{"$nulls":4},0.5,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"BCLAF1",1,190,"同义",13303,"0.4655=27/58",null,9774,"6q22-q23","NM_014739",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3528",91,90,0.99,{"$nulls":3},"A有","32629A","BDP1","chr5:70837295","c.6037A>C(exon29)","p.I2013L","rs6453014",0.82,0.9,0.89,0.92,0.9,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"BDP1",1,200,"非同义",12220,"0.9900=99/100",null,55814,"5q13","NM_018429",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3547",96,42,0.44,{"$nulls":3},"A有","32629A","BET1","chr7:93623458","c.*84T>C(exon4)","非编码区","rs2286845",0.29,0.47,0.46,0.48,0.47,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"BET1",1,270,"非编码区",14200,"0.4505=50/111",null,10282,"7q21.1-q22","NM_005868",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3572",148,148,1,{"$nulls":3},"A有","32629A","BIN2","chr12:51681903","c.1585A>G(exon11)","p.N529D","rs7954976",0.83,0.94,0.94,0.93,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"BIN2",1,83,"非同义",12220,"1.0000=172/172",null,51411,"12q13","NM_016293",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3602",79,79,1,{"$nulls":3},"A有","32629A","BLNK","chr10:97990583","c.171T>C(exon4)","p.P57P","rs727852",0.46,0.47,0.48,0.46,0.41,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"无丙种球蛋白血症4型","AR",613502,5,1,1,1,"BLNK",1,180,"同义",13203,"1.0000=85/85",null,29760,"10q23.2-q23.33","NM_013314",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3674",2,2,1,{"$nulls":3},"A有","32629A","BPTF","chr17:65978851","c.*447T>G(exon28)","非编码区","rs10832",0.9,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"BPTF",0.99,140,"非编码区",14200,"1.0000=3/3",null,2186,"17q24.3","NM_182641",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3684",193,193,1,{"$nulls":3},"A有","32629A","BRCA2","chr13:32915005","c.6513G>C(exon11)","p.V2171V","rs206076",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变","CLINVAR数据库","前列腺癌","AD",176807,4,1,4,8,"BRCA2",1,150,"同义",13303,"1.0000=226/226",null,675,"13q12.3","NM_000059",null,"rs206076|Benign|OMIM:114480|NA|reviewed by expert panel|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3702",19,8,0.42,{"$nulls":3},"A有","32629A","BRICD5","chr16:2260935","c.-101C>T(exon1)","非编码区","rs26855",0.34,0.51,0.53,0.5,0.53,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"BRICD5",1,46,"非编码区",14200,"0.4211=8/19",{"$nulls":3},"NM_182563",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3765",46,46,1,{"$nulls":3},"A有","32629A","BTG1","chr12:92539344","c.-33A>G(exon1)","非编码区","rs709223",0.85,0.72,0.74,0.7,0.72,0.73,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"BTG1",1,73,"非编码区",14200,"1.0000=53/53",null,694,"12q22","NM_001731",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3793",166,76,0.46,{"$nulls":3},"A有","32629A","BTNL3","chr5:180432416","c.945C>T(exon8)","p.P315P","rs7726150",0.46,0.38,0.34,0.43,0.35,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"BTNL3",1,140,"同义",13203,"0.4590=84/183",null,10917,"5q35.3","NM_197975",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3822",60,28,0.47,{"$nulls":3},"A有","32629A","C10orf2","chr10:102750783","c.*1C>A(exon4)","非编码区","rs3740487",0.38,0.58,0.59,0.56,0.58,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19680542,"进行性眼外肌麻痹合并线粒体核酸缺失3型","AD",609286,5,1,3,3,"C10orf2",1,77,"非编码区",14200,"0.4615=30/65",null,56652,"10q24","NM_001163812",null,"rs3740487|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"]
["32629A(745)v3887",45,45,1,{"$nulls":3},"A有","32629A","C11orf68","chr11:65684929","c.*1G>A(exon2)","非编码区","rs9667389",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C11orf68",1,40,"非编码区",14200,"1.0000=53/53",null,83638,"11q13.1","NM_001135635",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3919",7,4,0.57,{"$nulls":3},"A有","32629A","C12orf5","chr12:4462040","c.*183C>T(exon6)","非编码区","rs1046161",0.46,0.61,0.6,0.63,0.57,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C12orf5",1,170,"非编码区",14200,"0.5000=4/8",null,57103,"12p13.3","NM_020375",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3944",51,51,1,{"$nulls":3},"A有","32629A","C12orf77","chr12:25148755","c.393G>C(exon3)","p.L131F","rs864161",null,1,1,1,1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"C12orf77",1,150,"非同义",12320,"1.0000=54/54",null,196415,"12p12.1","NM_001101339",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v3997",59,30,0.51,{"$nulls":3},"A有","32629A","C15orf55","chr15:34648935","c.2642G>T(exon7)","p.S881I","rs57115249",0.12,0.29,0.28,0.3,0.29,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"C15orf55",1,83,"非同义",12210,"0.5072=35/69",null,256646,"15q14","NM_175741",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4039",48,21,0.44,{"$nulls":3},"A有","32629A","C16orf89","chr16:5110271","c.509+16G>A(exon3)","非编码区","rs2270834",0.17,0.33,0.37,0.29,0.32,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"C16orf89",1,55,"非编码区",16203,"0.4510=23/51",null,146556,"16p13.3","NM_152459",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4065",84,54,0.64,{"$nulls":3},"A有","32629A","C17orf66","chr17:34195739","c.8A>G(exon1)","p.Y3C","rs77630516",0.025,0.091,0.09,0.092,0.11,0.13,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,4,0,"C17orf66",1,100,"非同义",12110,"0.6596=62/94",null,256957,"17q12","NM_152781",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4095",73,73,1,{"$nulls":3},"A有","32629A","C17orf99","chr17:76157266","c.301T>C(exon3)","p.W101R","rs4071641",0.75,0.65,0.65,0.66,0.68,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"C17orf99",1,60,"非同义",12220,"1.0000=79/79",null,100141515,"17q25.3","NM_001163075",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4166",29,13,0.45,{"$nulls":3},"A有","32629A","C1QTNF1","chr17:77040128","c.78T>C(exon2)","p.R26R","rs4789922",0.32,0.51,0.54,0.48,0.5,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"C1QTNF1",1,57,"同义",13203,"0.4483=13/29",null,114897,"17q25.3","NM_030968",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4192",94,57,0.61,{"$nulls":3},"A有","32629A","C1R","chr12:7242204","c.550G>A(exon4)","p.E184K","rs1126605",null,0.38,0.4,0.36,null,0.37,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",22170086,"补体成分C1r/C1s联合缺陷","AR",216950,3,3,2,1,"C1R",1,96,"非同义",12330,"0.6055=66/109",null,715,"12p13","NM_001733",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4222",144,144,1,{"$nulls":3},"A有","32629A","C1orf141","chr1:67560956","c.565G>A(exon6)","p.V189I","rs11208997",0.94,0.97,0.95,1,0.98,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C1orf141",1,150,"非同义",12220,"1.0000=163/163",null,400757,"1p31.3","NM_001013674",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4293",57,26,0.46,{"$nulls":3},"A有","32629A","C20orf166","chr20:61167658","c.128C>G(exon4)","p.P43R","rs145416632",0.0054,0.019,0.019,0.019,0.046,0.026,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"C20orf166",1,51,"非同义",12110,"0.4426=27/61",null,128826,"20q13.33","NM_178463",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4319",15,15,1,{"$nulls":3},"A有","32629A","C20orf26","chr20:20341191","c.*137C>T(exon27)","非编码区","rs2274673",0.48,0.58,0.6,0.56,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"C20orf26",1,130,"非编码区",14200,"1.0000=15/15",null,26074,"20p11.23","NM_015585",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4349",66,27,0.41,{"$nulls":3},"A有","32629A","C22orf46","chr22:42089630","c.380A>G(exon2)","p.Q127R","rs138061605",0.0058,0.022,0.019,0.024,0.021,0.029,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"C22orf46",1,54,"非同义",12120,"0.4133=31/75",null,79640,"22q13.2","NM_001142964",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4433",59,59,1,{"$nulls":3},"A有","32629A","C3","chr19:6696597","c.2863+7C>T(exon22)","非编码区","rs2287845",0.73,0.86,0.84,0.88,0.85,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"补体成分3缺乏症","AR",613779,5,1,10,3,"C3",1,81,"非编码区",16203,"1.0000=62/62",null,718,"19p13.3-p13.2","NM_000064",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4416",185,89,0.48,{"$nulls":3},"A有","32629A","C3orf30","chr3:118867047","c.1419C>G(exon2)","p.D473E","rs9289122",0.47,0.5,0.5,0.49,0.51,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"C3orf30",1,100,"非同义",12220,"0.4739=100/211",null,152405,"3q13.32","NM_152539",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4454",131,66,0.5,{"$nulls":3},"A有","32629A","C4orf33","chr4:130023759","c.-7A>T(exon2)","非编码区","rs1757935",0.68,0.79,0.77,0.82,0.77,0.74,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"C4orf33",1,210,"非编码区",14200,"0.5506=87/158",null,132321,"4q28.2","NM_173487",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4534",42,42,1,{"$nulls":3},"A有","32629A","C6orf1","chr6:34214322","c.449G>C(exon5)","p.G150A","rs1150781",0.77,0.89,0.9,0.87,0.89,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21998595,{"$nulls":3},5,null,1,0,"C6orf1",1,50,"非同义",12220,"1.0000=51/51",null,221491,"6p21.31","NM_178508",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4540",91,48,0.53,{"$nulls":3},"A有","32629A","C6orf228","chr6:11134861","c.*26G>A(exon2)","非编码区","rs9468484",0.057,0.1,0.095,0.11,0.15,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"C6orf228",1,33,"非编码区",14200,"0.5464=53/97",null,221710,"6p24.2","NM_001135575",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4562",125,61,0.49,{"$nulls":3},"A有","32629A","C7orf57","chr7:48081095","c.220G>T(exon3)","p.A74S","rs10951942",0.36,0.38,0.33,0.42,0.32,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"C7orf57",1,110,"非同义",12210,"0.4675=72/154",null,136288,"7p12.3","NM_001100159",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4597",32,32,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,5,0,"C8orf31",1,64,"非编码区",16203,"1.0000=36/36",null,286122,"8q24.3","NM_173687",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4664",54,53,0.98,{"$nulls":3},"A有","32629A","C9orf174","chr9:100092968-100092969","c.2325(exon18)_c.2326(exon18)insGAGGAG","p.E775_E776insEE","rs113264216",0.59,0.57,0.6,0.54,0.17,0,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"C9orf174",0.94,100,"非移码",2222,"0.9828=57/58",null,100499483,"9q22.33","NM_020893",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v4690",162,162,1,{"$nulls":3},"A有","32629A","C9orf84","chr9:114484682","c.1939+7A>G(exon13)","非编码区","rs1337581",0.83,0.9,0.89,0.91,0.93,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"C9orf84",1,180,"非编码区",16203,"1.0000=181/181",null,158401,"9q31.3","NM_173521",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4722",79,48,0.61,{"$nulls":3},"A有","32629A","CA9","chr9:35674101","c.145T>C(exon1)","p.L49L","rs12553173",0.21,0.18,0.18,0.18,0.16,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19539328,{"$nulls":3},5,null,5,0,"CA9",1,78,"同义",13203,"0.5814=50/86",null,768,"9p13.3","NM_001216",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4772",99,99,1,{"$nulls":3},"A有","32629A","CACNA1D","chr3:53700550","c.1104T>C(exon7)","p.D368D","rs2250736",0.71,0.64,0.57,0.71,0.63,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20168990,"窦房结功能障碍，耳聋","AR",614896,5,1,4,2,"CACNA1D",1,130,"同义",13203,"1.0000=107/107",null,776,"3p14.3","NM_000720",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4787",50,26,0.52,{"$nulls":3},"A有","32629A","CACNA1G","chr17:48692881","c.4911+8C>T(exon27)","非编码区","rs8066527",0.2,0.048,0.048,0.049,0.052,0.056,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CACNA1G",1,64,"非编码区",16203,"0.5082=31/61",null,8913,"17q22","NM_018896",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4811",54,33,0.61,{"$nulls":3},"A有","32629A","CACNA1S","chr1:201035071","c.2748C>T(exon22)","p.H916H","rs2297902",0.054,0.24,0.23,0.26,0.22,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恶性高热易感5型",null,601887,5,2,8,3,"CACNA1S",1,90,"同义",13202,"0.6167=37/60",null,779,"1q32","NM_000069",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4868",43,43,1,{"$nulls":3},"A有","32629A","CALHM1","chr10:105218359","c.150A>G(exon1)","p.A50A","rs2986018",0.88,0.89,0.88,0.91,0.85,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",22874670,{"$nulls":3},5,null,5,0,"CALHM1",1,35,"同义",13203,"1.0000=55/55",null,255022,"10q24.33","NM_001001412",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4898",3,3,1,{"$nulls":3},"A有","32629A","CAMKK2","chr12:121676666","c.*1836A>T(exon17)","非编码区","rs1653588",0.076,0.075,0.062,0.087,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CAMKK2",1,66,"非编码区",14200,"1.0000=3/3",null,10645,"12q24.2","NM_006549",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4928",241,137,0.57,{"$nulls":3},"A有","32629A","CAP2","chr6:17543302","c.1137A>G(exon11)","p.K379K","rs9256",0.63,0.71,0.72,0.7,0.72,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CAP2",1,160,"同义",13203,"0.5761=159/276",null,10486,"6p22.3","NM_006366",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v4954",23,23,1,{"$nulls":3},"A有","32629A","CAPN3","chr15:42704105","c.*134C>T(exon24)","非编码区","rs3098423",0.99,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肢带型肌营养不良症2A型","AR",253600,5,1,1,1,"CAPN3",1,100,"非编码区",14200,"1.0000=28/28",null,825,"15q15.1","NM_000070",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5003",21,11,0.52,{"$nulls":3},"A有","32629A","CARD9","chr9:139266405","c.126C>T(exon2)","p.P42P","rs10781499",0.37,0.29,0.31,0.28,0.29,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","21297633;23128233","家族性念珠菌病2型","AR",212050,5,3,2,1,"CARD9",1,40,"同义",13203,"0.5238=11/21",null,64170,"9q34.3","NM_052813",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5034",105,54,0.51,{"$nulls":3},"A有","32629A","CASP10","chr2:202082459","c.1564T>A(exon10)","p.L522I","rs13006529",0.33,0.2,0.21,0.18,0.23,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","18563783;19604093;22568453","自身免疫性淋巴细胞增生综合征2A型","AD",603909,5,1,2,3,"CASP10",1,110,"非同义",12220,"0.4961=63/127",null,843,"2q33-q34","NM_032977",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5043",88,42,0.48,{"$nulls":3},"A有","32629A","CASP8AP2","chr6:90573819","c.2391G>A(exon7)","p.E797E","rs3799895",2.8E-3,0.019,0.019,0.019,0.017,0.017,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"CASP8AP2",1,110,"同义",13103,"0.4694=46/98",null,9994,"6q15","NM_012115",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5109",8,5,0.62,{"$nulls":3},"A有","32629A","CBL","chr11:119077003","c.-125C>T(exon1)","非编码区","rs7108857",0.34,0.36,0.42,0.3,0.31,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"类努南综合征伴或不伴有幼年型粒-单核细胞白血病",null,613563,5,2,3,1,"CBL",1,120,"非编码区",14200,"0.6250=5/8",null,867,"11q23.3","NM_005188",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5123",34,15,0.44,{"$nulls":3},"A有","32629A","CBS","chr21:44485527","c.636C>T(exon7)","p.N212N","rs2298758",0.003,0.022,0.024,0.019,0.021,0.015,"杂合","未知","预测范围之外的同义突变","CLINVAR数据库","高同型半胱氨酸血症（I型）","AR",236200,4,3,2,1,"CBS",1,42,"同义",13103,"0.4412=15/34",null,875,"21q22.3","NM_000071",null,"rs2298758|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5143",121,120,0.99,{"$nulls":3},"A有","32629A","CCAR1","chr10:70502288","c.480G>A(exon6)","p.T160T","rs1300253",0.86,0.76,0.75,0.77,0.73,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CCAR1",1,210,"同义",13203,"0.9924=130/131",null,55749,"10q21.3","NM_018237",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5211",80,52,0.65,{"$nulls":3},"A有","32629A","CCDC144NL","chr17:20768601","c.*127G>A(exon4)","非编码区","rs62066973",{"$nulls":4},0.5,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,28,0,"CCDC144NL",1,170,"非编码区",14300,"0.6517=58/89",null,339184,"17p11.2","NM_001004306",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5237",130,64,0.49,{"$nulls":3},"A有","32629A","CCDC147","chr10:106214324","c.*36A>G(exon18)","非编码区","rs7905777",0.081,0.12,0.13,0.12,null,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CCDC147",1,160,"非编码区",14200,"0.5195=80/154",null,159686,"10q25.1","NM_001008723",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5261",13,4,0.31,{"$nulls":3},"A有","32629A","CCDC154","chr16:1493491","c.414+16A>C(exon3)","非编码区","rs12929054",0.33,0.13,0.12,0.15,0.11,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"CCDC154",1,31,"非编码区",16203,"0.2667=4/15",null,645811,"16p13.3","NM_001143980",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5338",23,14,0.61,{"$nulls":3},"A有","32629A","CCDC22","chrX:49098631","c.361+17A>G(exon3)","非编码区","rs2294018",null,0.68,0.67,0.68,null,0.65,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,3,0,"CCDC22",1,68,"非编码区",16303,"0.6087=14/23",null,28952,"Xp11.23","NM_014008",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5365",76,76,1,{"$nulls":3},"A有","32629A","CCDC38","chr12:96284650","c.831T>C(exon9)","p.A277A","rs6538681",0.75,0.74,0.74,0.74,0.72,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CCDC38",1,170,"同义",13203,"1.0000=82/82",null,120935,"12q23.1","NM_182496",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5398",50,50,1,{"$nulls":3},"A有","32629A","CCDC51","chr3:48474249","c.805T>C(exon4)","p.L269L","rs2279077",0.32,0.27,0.25,0.28,0.33,0.31,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CCDC51",1,53,"同义",13203,"1.0000=59/59",null,79714,"3p21.31","NM_001256964",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5421",7,7,1,{"$nulls":3},"A有","32629A","CCDC62","chr12:123311302-123311303","c.*374(exon13)_c.*375(exon13)insC","非编码区","rs11386478",null,0.98,0.98,0.98,0.65,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"CCDC62",1,140,"非编码区",2430,"1.0000=9/9",null,84660,"12q24.31","NM_201435",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5508",83,83,1,{"$nulls":3},"A有","32629A","CCDC9","chr19:47761646","c.-12G>C(exon2)","非编码区","rs12985905",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"CCDC9",1,58,"非编码区",14200,"1.0000=97/97",null,26093,"19q13.32","NM_015603",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5505",5,5,1,{"$nulls":3},"A有","32629A","CCDC96","chr4:7044357","c.309T>C(exon1)","p.V103V","rs871133",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CCDC96",1,24,"同义",13203,"1.0000=5/5",null,257236,"4p16.1","NM_153376",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5548",113,58,0.51,{"$nulls":3},"A有","32629A","CCL2","chr17:32583911","c.*65C>T(exon3)","非编码区","rs13900",0.36,0.62,0.6,0.64,0.57,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16672419;17065190;18698231;20339010;23166687","结核分枝杆菌易感",null,607948,5,2,2,3,"CCL2",1,140,"非编码区",14200,"0.5410=66/122",null,6347,"17q11.2-q12","NM_002982",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5604",28,28,1,{"$nulls":3},"A有","32629A","CCT5","chr5:10265076","c.*181C>T(exon11)","非编码区","rs699113",0.69,0.88,0.86,0.89,0.87,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20383335,"感觉神经病变伴遗传性痉挛性截瘫（常染色体隐性遗传）","AR",256840,5,1,7,1,"CCT5",1,130,"非编码区",14200,"1.0000=30/30",null,22948,"5p15.2","NM_012073",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5632",76,35,0.46,{"$nulls":3},"A有","32629A","CD163","chr12:7649653","c.855A>G(exon5)","p.G285G","rs4883264",null,0.39,0.39,0.39,0.37,0.38,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"CD163",1,110,"同义",13303,"0.4500=36/80",null,9332,"12p13.3","NM_004244",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5659",158,83,0.53,{"$nulls":3},"A有","32629A","CD200R1","chr3:112648222","c.335A>G(exon4)","p.K112R","rs2171509",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",{"$nulls":4},5,null,6,0,"CD200R1",1,170,"非同义",12220,"0.5506=98/178",null,131450,"3q13.2","NM_138806",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5710",2,2,1,{"$nulls":3},"A有","32629A","CD320","chr19:8367033","c.*314A>G(exon5)","非编码区","rs250510",0.93,0.93,0.94,0.93,null,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甲基丙二酸尿运钴胺素蛋白受体缺陷",null,613646,5,1,10,1,"CD320",1,30,"非编码区",14200,"1.0000=2/2",null,51293,"19p13.3-p13.2","NM_016579",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5732",47,26,0.55,{"$nulls":3},"A有","32629A","CD3G","chr11:118221349","c.390T>C(exon4)","p.A130A","rs3753059",0.3,0.52,0.54,0.5,0.49,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"免疫缺陷17型","AR",615607,5,3,3,1,"CD3G",1,160,"同义",13203,"0.5472=29/53",null,917,"11q23","NM_000073",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5762",34,34,1,{"$nulls":3},"A有","32629A","CD70","chr19:6585921","c.*110C>G(exon3)","非编码区","rs453462",1,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CD70",1,91,"非编码区",14200,"1.0000=36/36",null,970,"19p13","NM_001252",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5829",227,154,0.68,{"$nulls":3},"A有","32629A","CDC27","chr17:45216132","c.1695A>C(exon13)","p.L565F","rs62075657",{"$nulls":4},0.67,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,59,0,"CDC27",1,450,"非同义",12310,"0.6850=187/273",null,996,"17q21.32","NM_001114091",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5859",140,24,0.17,{"$nulls":3},"A有","32629A","CDC27","chr17:45234702","c.524A>G(exon6)","p.N175S","rs147617501",{"$nulls":4},0.27,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,59,0,"CDC27",1,450,"非同义",12320,"0.2718=53/195",null,996,"17q21.32","NM_001114091",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5889",39,25,0.64,{"$nulls":3},"A有","32629A","CDC42BPG","chr11:64607587","c.581+5G>A(exon5)","非编码区","rs589984",0.27,0.42,0.47,0.38,0.37,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CDC42BPG",1,48,"非编码区",16201,"0.6591=29/44",null,55561,"11q13.1","NM_017525",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5913",25,17,0.68,{"$nulls":3},"A有","32629A","CDCA8","chr1:38158258","c.-105C>T(exon1)","非编码区","rs11558851",0.089,0,0,0,0.014,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CDCA8",1,140,"非编码区",14200,"0.6800=17/25",null,55143,"1p34.3","NM_001256875",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5960",32,31,0.97,{"$nulls":3},"A有","32629A","CDH23","chr10:73544638","c.5503-10A>G(exon43)","非编码区","rs2394839",0.18,0.32,0.32,0.33,0.33,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"尤塞氏综合症ID型","AR",601067,5,1,25,2,"CDH23",1,73,"非编码区",16202,"0.9706=33/34",null,64072,"10q22.1","NM_022124",null,"rs2394839|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"]
["32629A(745)v5976",89,89,1,{"$nulls":3},"A有","32629A","CDH3","chr16:68713730","c.720G>A(exon7)","p.T240T","rs2296409",0.61,0.59,0.59,0.59,0.61,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"EEM综合症","AR",225280,5,1,7,2,"CDH3",1,81,"同义",13203,"0.9897=96/97",null,1001,"16q22.1","NM_001793",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v5999",98,44,0.45,{"$nulls":3},"A有","32629A","CDHR1","chr10:85965574","c.863-9C>T(exon10)","非编码区","rs4933977",0.13,0.19,0.2,0.18,null,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"视锥-视杆细胞营养不良15型","AR",613660,5,3,5,1,"CDHR1",0.98,100,"非编码区",16202,"0.4615=48/104",null,92211,"10q23.1","NM_033100",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6069",124,57,0.46,{"$nulls":3},"A有","32629A","CDKN1A","chr6:36653597","c.*20C>T(exon3)","非编码区","rs1059234",0.23,0.48,0.5,0.46,0.47,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","7655464;15878916;16465622;18174243;19224585",{"$nulls":3},5,null,3,0,"CDKN1A",1,64,"非编码区",14200,"0.4380=60/137",null,1026,"6p21.2","NM_001220778","rs1059234|\"Cancer_association_with\"|7655464",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6095",123,61,0.5,{"$nulls":3},"A有","32629A","CDRT1","chr17:15498181","c.1728T>C(exon10)","p.A576A","rs12601532",0.37,0.38,0.39,0.37,0.38,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"CDRT1",1,210,"同义",13203,"0.4931=71/144",null,374286,"17p12","NM_006382",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6111",30,16,0.53,{"$nulls":3},"A有","32629A","CDSN","chr6:31084943-31084945","c.447(exon2)_c.449(exon2)delAAG","p.G149_S150delinsG","rs57244323",null,0.15,0.11,0.19,0.067,0.18,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"脱皮综合征","AR",270300,3,3,15,2,"CDSN",0.98,49,"非移码",2232,"0.5312=17/32",null,1041,"6p21.3","NM_001264",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6138",113,56,0.5,{"$nulls":3},"A有","32629A","CEACAM21","chr19:42083739-42083740","c.252(exon2)_c.253(exon2)insGAC","p.I84_D85insD","rs3030812",null,0.34,0.31,0.36,0.34,0.37,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,7,0,"CEACAM21",1,110,"非移码",2231,"0.5000=66/132",null,90273,"19q13.2","NM_001098506",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6201",33,18,0.55,{"$nulls":3},"A有","32629A","CELSR1","chr22:46761289","c.8405-12G>A(exon32)","非编码区","rs376816483",{"$nulls":4},0.00057,null,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,6,0,"CELSR1",0.98,49,"非编码区",16302,"0.5429=19/35",null,9620,"22q13.3","NM_014246",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6232",46,46,1,{"$nulls":3},"A有","32629A","CENPJ","chr13:25457207","c.*108A>G(exon17)","非编码区","rs9318911",0.97,0.95,0.96,0.94,0.95,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"常染色体隐性原发性小头畸形6型","AR",608393,5,1,5,2,"CENPJ",1,140,"非编码区",14200,"1.0000=52/52",null,55835,"13q12.12","NM_018451",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6253",3,3,1,{"$nulls":3},"A有","32629A","CENPO","chr2:25044763","c.*2576A>G(exon7)","非编码区","rs3198667",0.57,0.68,0.66,0.69,0.71,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CENPO",1,120,"非编码区",14200,"1.0000=3/3",null,79172,"2p23.3","NM_001199803",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6310",132,62,0.47,{"$nulls":3},"A有","32629A","CEP70","chr3:138218994","c.1610A>G(exon16)","p.N537S","rs35340237",0.2,0.35,0.37,0.33,0.35,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CEP70",1,200,"非同义",12220,"0.4792=69/144",null,80321,"3q22.3","NM_024491",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6345",101,52,0.51,{"$nulls":3},"A有","32629A","CERK","chr22:47083012","c.*19A>T(exon13)","非编码区","rs2748349",0.48,0.36,0.34,0.38,0.35,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CERK",1,81,"非编码区",14200,"0.5000=58/116",null,64781,"22q13.31","NM_022766",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6366",161,51,0.32,{"$nulls":3},"A有","32629A","CES1","chr16:55862712","c.227G>A(exon2)","p.S76N","rs2307240",0.05,0.053,0.048,0.058,0.041,0.047,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"CES1",1,120,"非同义",12220,"0.3277=58/177",null,1066,"16q22.2","NM_001025195",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6405",191,82,0.43,{"$nulls":3},"A有","32629A","CFTR","chr7:117199533","c.1408G>A(exon11)","p.V470M","rs213950",0.58,0.38,0.37,0.38,0.43,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;12952861;16436643;17554260;18716917","遗传性胰腺炎","AD",167800,5,1,2,4,"CFTR",1,170,"非同义",12220,"0.4247=93/219",null,1080,"7q31.2","NM_000492","rs213950|\"Respiratory/pancreatic_disease_association_with\"|12952861","VAL470MET|Benign;Likely benign|OMIM:219700|OMIM:602421.0023|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"]
["32629A(745)v6429",49,49,1,{"$nulls":3},"A有","32629A","CGREF1","chr2:27324751","c.348C>A(exon6)","p.I116I","rs2384572",null,0.7,0.77,0.64,0.71,0.76,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"CGREF1",1,81,"同义",13303,"1.0000=51/51",null,10669,"2p23.3","NM_006569",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6470",42,40,0.95,{"$nulls":3},"A有","32629A","CHD5","chr1:6196943","c.2437-18T>C(exon16)","非编码区","rs2746066",0.52,0.77,0.72,0.82,0.81,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"CHD5",1,59,"非编码区",16202,"0.9556=43/45",null,26038,"1p36.31","NM_015557",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6523",102,102,1,{"$nulls":3},"A有","32629A","CHKA","chr11:67837771","c.765-11T>A(exon6)","非编码区","rs3819255",0.32,0.43,0.47,0.39,0.35,0.35,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CHKA",0.97,110,"非编码区",16201,"1.0000=116/116",null,1119,"11q13.2","NM_001277",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6551",24,24,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,7,0,"CHPF",1,25,"同义",13203,"1.0000=26/26",null,79586,"2q35","NM_024536",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6578",28,18,0.64,{"$nulls":3},"A有","32629A","CHRNA4","chr20:61980991","c.1758+14A>G(exon5)","非编码区","rs3827020",0.24,0.48,0.48,0.49,null,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;15154117","烟草成瘾易感",null,188890,5,2,6,2,"CHRNA4",1,86,"非编码区",16203,"0.6452=20/31",null,1137,"20q13.2-q13.3","NM_000744",null,"rs3827020|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6596",6,3,0.5,{"$nulls":3},"A有","32629A","CHRNE","chr17:4802685","c.1033-6C>T(exon10)","非编码区","rs2075763",0.11,0.24,0.26,0.22,0.25,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","先天性肌无力综合征3B快通道型","AD,AR",608930,5,1,1,3,"CHRNE",1,25,"非编码区",16202,"0.5000=3/6",null,1145,"17p13.2","NM_000080",null,"rs2075763|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"]
["32629A(745)v6655",64,31,0.48,{"$nulls":3},"A有","32629A","CISH","chr3:50645158","c.708T>C(exon4)","p.S236S","rs2239753",0.14,0.34,0.32,0.37,0.31,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"疟疾,易感",null,611162,5,2,4,3,"CISH",1,71,"同义",13203,"0.4925=33/67",null,1154,"3p21.3","NM_013324",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6678",6,6,1,{"$nulls":3},"A有","32629A","CKB","chr14:103988180","c.456C>A(exon4)","p.R152R","rs1136165",0.66,0.83,0.84,0.83,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CKB",1,44,"同义",13203,"1.0000=6/6",null,1152,"14q32","NM_001823",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6703",50,49,0.98,{"$nulls":3},"A有","32629A","CLCN7","chr16:1503879","c.1170A>T(exon14)","p.A390A","rs2235579",0.56,0.7,0.66,0.74,0.7,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18755304,"常染色体隐性骨硬化病4型",null,611490,5,1,2,2,"CLCN7",1,52,"同义",13203,"0.9825=56/57",null,1186,"16p13","NM_001287",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6753",102,46,0.45,{"$nulls":3},"A有","32629A","CLEC12A","chr12:10131939","c.195C>T(exon3)","p.H65H","rs536947",0.19,0.21,0.22,0.2,0.22,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CLEC12A",1,190,"同义",13203,"0.4474=51/114",null,160364,"12p13.2","NM_138337",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6783",2,2,1,{"$nulls":3},"A有","32629A","CLEC2B","chr12:10005670-10005671","c.*228(exon5)_c.*229(exon5)insCTTTCTTTCTTTCT","非编码区","rs10649717",{"$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",{"$nulls":4},3,null,4,0,"CLEC2B",1,200,"非编码区",2430,"1.0000=3/3",null,9976,"12p13-p12","NM_005127",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v6805",37,14,0.38,{"$nulls":3},"A有","32629A","CLEC7A","chr12:10270938","c.*119C>A(exon6)","非编码区","rs11053597",0.17,0.091,0.081,0.1,0.099,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"曲霉病（易感）",null,614079,5,2,7,2,"CLEC7A",1,160,"非编码区",14200,"0.3500=14/40",null,64581,"12p13.2","NM_197947",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6866",60,29,0.48,{"$nulls":3},"A有","32629A","CLSTN2","chr3:140178381","c.992T>C(exon7)","p.I331T","rs17348572",0.03,0.022,0.033,0.0097,0.032,0.026,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",19606085,{"$nulls":3},3,null,7,0,"CLSTN2",1,110,"非同义",12120,"0.4853=33/68",null,64084,"3q23","NM_022131",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6896",13,13,1,{"$nulls":3},"A有","32629A","CMPK1","chr1:47799639","c.22G>C(exon1)","p.G8R","rs7543016",0.6,0.58,0.53,0.63,0.59,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",25162786,{"$nulls":3},5,null,5,0,"CMPK1",1,130,"非同义",12220,"1.0000=15/15",null,51727,"1p32","NM_016308",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6922",86,33,0.38,{"$nulls":3},"A有","32629A","CMYA5","chr5:79029288","c.4700C>A(exon2)","p.A1567E","rs1428223",0.28,0.35,0.29,0.42,0.4,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,35,0,"CMYA5",1,110,"非同义",12220,"0.3723=35/94",null,202333,"5q14.1","NM_153610",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v6967",25,13,0.52,{"$nulls":3},"A有","32629A","CNGB1","chr16:57965793","c.1373-11C>A(exon17)","非编码区","rs2303782",0.028,0.12,0.1,0.13,0.1,0.088,"杂合","未知","剪切位点预测结果为无害",null,"视网膜色素变性45型-AR",null,613767,4,2,12,1,"CNGB1",1,83,"非编码区",16102,"0.5000=13/26",null,1258,"16q13","NM_001297",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7014",20,9,0.45,{"$nulls":3},"A有","32629A","CNR2","chr1:24200969","c.*56A>G(exon2)","非编码区","rs2229584",0.65,0.49,0.47,0.5,0.51,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25268406,{"$nulls":3},5,null,12,0,"CNR2",1,70,"非编码区",14200,"0.4400=11/25",null,1269,"1p36.11","NM_001841",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7044",53,53,1,{"$nulls":3},"A有","32629A","CNTN4","chr3:3076443","c.1911A>G(exon16)","p.P637P","rs6803232",0.56,0.44,0.42,0.47,0.44,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"CNTN4",1,200,"同义",13203,"1.0000=59/59",null,152330,"3p26.3","NM_001206955",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7065",5,5,1,{"$nulls":3},"A有","32629A","CNTNAP2","chr7:148112987","c.*279C>A(exon24)","非编码区","rs987456",0.66,0.69,0.68,0.7,0.72,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"孤独症,易感15型",null,612100,5,1,9,2,"CNTNAP2",1,160,"非编码区",14200,"1.0000=7/7",null,26047,"7q35","NM_014141",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7140",120,63,0.53,{"$nulls":3},"A有","32629A","COL10A1","chr6:116441646","c.1633G>C(exon3)","p.G545R","rs2228547",0.21,0.21,0.22,0.2,0.2,0.21,"杂合","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",156500,5,1,4,1,"COL10A1",1,110,"非同义",12210,"0.5255=72/137",null,1300,"6q21-q22","NM_000493",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7148",58,58,1,{"$nulls":3},"A有","32629A","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,"耳脊椎骨骺发育不良","AR",215150,5,1,7,6,"COL11A2",0.76,31,"同义",13203,"1.0000=58/58",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"]
["32629A(745)v7159",215,121,0.56,{"$nulls":3},"A有","32629A","COL14A1","chr8:121210069","c.612T>C(exon7)","p.G204G","rs2305598",0.63,0.65,0.63,0.67,0.65,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"COL14A1",1,190,"同义",13203,"0.5365=125/233",null,7373,"8q23","NM_021110",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7208",40,40,1,{"$nulls":3},"A有","32629A","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","成骨不全2型","AD",166210,5,1,7,8,"COL1A1",1,82,"非同义",12230,"1.0000=43/43",null,1277,"17q21.33","NM_000088",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7212",158,74,0.47,{"$nulls":3},"A有","32629A","COL1A1","chr17:48276971","c.299-20C>G(exon3)","非编码区","rs2256835",0.52,0.6,0.65,0.56,0.58,0.62,"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)7A型（arthrochalasia型）","AD",130060,5,1,7,8,"COL1A1",1,82,"非编码区",16202,"0.4719=84/178",null,1277,"17q21.33","NM_000088",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7216",154,77,0.5,{"$nulls":3},"A有","32629A","COL1A2","chr7:94039032","c.937-3C>T(exon19)","非编码区","rs42519",0.82,0.92,0.92,0.93,0.93,0.92,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25742658,"成骨不全4型","AD",166220,5,1,6,6,"COL1A2",1,210,"非编码区",16202,"0.4910=82/167",null,1278,"7q22.1","NM_000089","rs42519|\"Osteogenesis_imperfecta\"|25742658",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7262",55,26,0.47,{"$nulls":3},"A有","32629A","COL2A1","chr12:48367976","c.4213G>A(exon53)","p.G1405S","rs2070739",0.17,0.43,0.42,0.45,0.37,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17697348;18523590;19430638","捷克发育不良","AD",609162,5,1,9,14,"COL2A1",1,94,"非同义",12210,"0.4821=27/56",null,1280,"12q13.11","NM_001844",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7265",56,29,0.52,{"$nulls":3},"A有","32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"stickler综合征I型","AD",108300,5,1,9,14,"COL2A1",1,94,"非编码区",16202,"0.5345=31/58",null,1280,"12q13.11","NM_001844",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7266",131,68,0.52,{"$nulls":3},"A有","32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19387081,"捷克发育不良","AD",609162,5,1,9,14,"COL2A1",1,94,"非编码区",16203,"0.5286=74/140",null,1280,"12q13.11","NM_001844",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7275",86,38,0.44,{"$nulls":3},"A有","32629A","COL4A1","chr13:110813532","c.4640+7C>T(exon49)","非编码区","rs2275843",0.19,0.31,0.35,0.27,0.32,0.3,"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,614519,5,2,16,4,"COL4A1",1,140,"非编码区",16203,"0.4124=40/97",null,1282,"13q34","NM_001845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7276",113,57,0.5,{"$nulls":3},"A有","32629A","COL4A1","chr13:110819586","c.3877-9C>T(exon44)","非编码区","rs589985",0.66,0.64,0.63,0.66,0.67,0.66,"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,614519,5,2,16,4,"COL4A1",1,140,"非编码区",16202,"0.5185=70/135",null,1282,"13q34","NM_001845",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7289",7,7,1,{"$nulls":3},"A有","32629A","COL4A1","chr13:110959356","c.19G>C(exon1)","p.V7L","rs9515185",0.42,0.64,0.66,0.63,0.61,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","遗传性血管病伴肾病、微动脉瘤和肌肉痉挛","AD",611773,5,1,16,4,"COL4A1",1,140,"非同义",12220,"1.0000=8/8",null,1282,"13q34","NM_001845",null,"VAL7LEU|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"]
["32629A(745)v7305",355,355,1,{"$nulls":3},"A有","32629A","COL4A3","chr2:228111435","c.422T>C(exon7)","p.L141P","rs10178458",0.8,0.92,0.94,0.91,0.9,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20029656,"常染色体隐性遗传性遗传性肾炎（Alport综合征）","AR",203780,5,1,6,3,"COL4A3",1,200,"非同义",12220,"1.0000=407/407",null,1285,"2q36-q37","NM_000091",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7351",60,60,1,{"$nulls":3},"A有","32629A","COL6A1","chr21:47406612","c.588+13C>A(exon4)","非编码区","rs754507",0.7,0.8,0.8,0.8,0.79,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;12958705","Bethlem肌病","AD,AR",158810,5,1,5,2,"COL6A1",1,59,"非编码区",16203,"1.0000=64/64",null,1291,"21q22.3","NM_001848",null,"rs754507|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7362",76,29,0.38,{"$nulls":3},"A有","32629A","COL6A3","chr2:238233410","c.*7G>C(exon44)","非编码区","rs4663722",0.21,0.24,0.23,0.24,0.18,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"Bethlem肌病","AD,AR",158810,5,1,13,2,"COL6A3",1,94,"非编码区",14200,"0.3855=32/83",null,1293,"2q37","NM_004369",null,"rs4663722|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"]
["32629A(745)v7379",60,60,1,{"$nulls":3},"A有","32629A","COL6A5","chr3:130104206","c.1860A>G(exon5)","p.K620K","rs10212372",0.4,0.51,0.54,0.48,0.51,0.55,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"COL6A5",1,160,"同义",13202,"1.0000=67/67",null,256076,"3q22.1","NM_153264",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7408",89,49,0.55,{"$nulls":3},"A有","32629A","COLEC11","chr2:3691534","c.633C>T(exon8)","p.F211F","rs200901540",0.0002,0.0024,0.0048,0,0.00084,0.00046,"杂合","未知","预测范围之外的同义突变",null,"3MC综合征2型","AR",265050,4,3,2,1,"COLEC11",0.93,84,"同义",13103,"0.5455=54/99",null,78989,"2p25.3","NM_199235",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7435",140,75,0.54,{"$nulls":3},"A有","32629A","COPS3","chr17:17168164","c.573C>T(exon6)","p.I191I","rs3182911",0.49,0.64,0.69,0.6,0.62,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"COPS3",1,130,"同义",13203,"0.5443=86/158",null,8533,"17p11.2","NM_003653",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7459",102,102,1,{"$nulls":3},"A有","32629A","CORIN","chr4:47667064","c.1574A>G(exon11)","p.H525R","rs11934749",0.91,0.96,0.98,0.95,0.96,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先兆子痫/子痫惊厥5型",null,614595,5,1,4,1,"CORIN",1,150,"非同义",12220,"1.0000=110/110",null,10699,"4p13-p12","NM_006587",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7513",32,15,0.47,{"$nulls":3},"A有","32629A","CPAMD8","chr19:17100438","c.1536+15A>T(exon13)","非编码区","rs4447554",0.58,0.63,0.58,0.68,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"CPAMD8",1,75,"非编码区",16203,"0.4857=17/35",null,27151,"19p13.11","NM_015692",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7543",19,19,1,{"$nulls":3},"A有","32629A","CPLX1","chr4:780286","c.*3G>C(exon4)","非编码区","rs10794536",0.84,0.7,0.69,0.71,0.74,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CPLX1",1,38,"非编码区",14200,"1.0000=20/20",null,10815,"4p16.3","NM_006651",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7569",93,39,0.42,{"$nulls":3},"A有","32629A","CPNE6","chr14:24543808","c.567G>C(exon6)","p.L189L","rs2070343",0.27,0.57,0.58,0.56,0.52,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CPNE6",1,76,"同义",13203,"0.4000=44/110",null,9362,"14q11.2","NM_006032",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7595",142,64,0.45,{"$nulls":3},"A有","32629A","CPS1","chr2:211473070","c.2193-15G>T(exon19)","非编码区","rs2287600",0.14,0.28,0.25,0.3,0.24,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿肺动脉高压（易感）",null,615371,5,2,5,2,"CPS1",1,190,"非编码区",16202,"0.4588=78/170",null,1373,"2q35","NM_001875",null,"rs2287600|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"]
["32629A(745)v7637",9,2,0.22,{"$nulls":3},"A有","32629A","CPZ","chr4:8605818","c.201C>T(exon4)","p.C67C","rs6852001",0.16,0.31,0.35,0.28,0.32,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"CPZ",1,61,"同义",13203,"0.2222=2/9",null,8532,"4p16.1","NM_001014448",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7674",38,21,0.55,{"$nulls":3},"A有","32629A","CRB2","chr9:126133497","c.2076C>T(exon8)","p.S692S","rs13290763",0.2,0.28,0.27,0.3,0.26,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"CRB2",0.97,27,"同义",13203,"0.5455=24/44",null,286204,"9q33.3","NM_173689",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7704",74,74,1,{"$nulls":3},"A有","32629A","CRELD1","chr3:9976159","c.37A>G(exon1)","p.M13V","rs279552",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","房室间隔缺陷易感2型","AD",606217,5,1,1,1,"CRELD1",1,85,"非同义",12230,"1.0000=82/82",null,78987,"3p25.3","NM_015513",null,"VAL13MET|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7771",130,130,1,{"$nulls":3},"A有","32629A","CRTAP","chr3:33161898","c.534C>T(exon2)","p.D178D","rs4076086",0.28,0.61,0.64,0.58,0.58,0.58,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19727905,"成骨不全7型","AR",610682,5,1,2,1,"CRTAP",1,85,"同义",13203,"1.0000=141/141",null,10491,"3p22.3","NM_006371",null,"rs4076086|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"]
["32629A(745)v7801",35,16,0.46,{"$nulls":3},"A有","32629A","CSAD","chr12:53552475","c.1390-7T>C(exon17)","非编码区","rs12161793",0.1,0.15,0.15,0.16,0.16,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CSAD",1,96,"非编码区",16202,"0.3953=17/43",null,51380,"12q13.11-q14.3","NM_015989",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7831",133,133,1,{"$nulls":3},"A有","32629A","CSMD1","chr8:2806920-2806921","c.10315-13(exon68)_c.10315-12(exon68)insTCTTTTCTTT","非编码区","rs5741961",{"$nulls":4},0.011,0.73,"纯合","未知","内含子突变",{"$nulls":4},4,null,17,0,"CSMD1",1,160,"非编码区",2500,"1.0000=156/156",null,64478,"8p23.2","NM_033225",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7906",60,32,0.53,{"$nulls":3},"A有","32629A","CST5","chr20:23860178","c.136T>C(exon1)","p.C46R","rs1799841",0.57,0.5,0.49,0.51,0.46,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15767273;20189825",{"$nulls":3},5,null,2,0,"CST5",1,91,"非同义",12220,"0.5303=35/66",null,1473,"20p11.21","NM_001900",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7933",3,3,1,{"$nulls":3},"A有","32629A","CTAGE15P","chr7:143270431","c.1521T>C(exon1)","p.L507L","rs377041391",0.57,0.72,0.73,0.71,0.00052,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"CTAGE15P",1,380,"同义",13203,"1.0000=3/3",null,441294,"7q35","NM_001008747",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v7962",24,7,0.29,{"$nulls":3},"A有","32629A","CTBP2","chr10:126677944","c.*143A>G(exon9)","非编码区","rs80223349",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,54,0,"CTBP2",1,54,"非编码区",14300,"0.3077=8/26",null,1488,"10q26.13","NM_022802",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8033",71,34,0.48,{"$nulls":3},"A有","32629A","CTIF","chr18:46284587","c.882T>C(exon9)","p.L294L","rs1038308",0.86,0.89,0.87,0.92,0.9,0.9,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"CTIF",1,69,"同义",13203,"0.4667=35/75",null,9811,"18q21.1","NM_001142397",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8055",35,19,0.54,{"$nulls":3},"A有","32629A","CTSB","chr8:11702542","c.*92A>G(exon12)","非编码区","rs8898",0.41,0.52,0.53,0.5,0.53,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22851129,{"$nulls":3},5,null,6,0,"CTSB",1,63,"非编码区",14200,"0.5789=22/38",null,1508,"8p22","NM_147780",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8079",31,31,1,{"$nulls":3},"A有","32629A","CTSZ","chr20:57570568","c.*136C>T(exon6)","非编码区","rs13720",0.84,0.87,0.87,0.87,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"CTSZ",1,63,"非编码区",14200,"1.0000=35/35",null,1522,"20q13.32","NM_001336",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8109",136,71,0.52,{"$nulls":3},"A有","32629A","CUL3","chr2:225346646","c.1992A>G(exon14)","p.Q664Q","rs2070127",0.23,0.25,0.25,0.26,0.29,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"假性醛固酮减少症2E型","AD",614496,5,1,3,1,"CUL3",0.96,170,"同义",13203,"0.5122=84/164",null,8452,"2q36.2","NM_003590",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8171",48,48,1,{"$nulls":3},"A有","32629A","CXCL16","chr17:4638737","c.425T>C(exon4)","p.I142T","rs1050998",0.46,0.61,0.63,0.58,0.61,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"CXCL16",1,66,"非同义",12220,"1.0000=54/54",null,58191,"17p13","NM_022059",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8196",26,11,0.42,{"$nulls":3},"A有","32629A","CXXC5","chr5:139060077","c.-32C>T(exon2)","非编码区","rs3756677",0.062,0.055,0.086,0.024,0.063,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"CXXC5",1,41,"非编码区",14200,"0.3438=11/32",null,51523,"5q31.2","NM_016463",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8227",2,2,1,{"$nulls":3},"A有","32629A","CYB5R2","chr11:7686332","c.*273C>T(exon9)","非编码区","rs72851375",0.24,0.15,0.13,0.17,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"CYB5R2",1,140,"非编码区",14200,"1.0000=2/2",null,51700,"11p15.4","NM_016229",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8280",83,40,0.48,{"$nulls":3},"A有","32629A","CYP11B2","chr8:143996553","c.504C>T(exon3)","p.F168F","rs4546",0.35,0.28,0.3,0.26,0.29,0.29,"杂合","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",610600,5,3,9,2,"CYP11B2",1,86,"同义",13203,"0.5000=48/96",null,1585,"8q21-q22","NM_000498",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8301",113,57,0.5,{"$nulls":3},"A有","32629A","CYP24A1","chr20:52786219","c.552C>T(exon4)","p.A184A","rs2296241",0.46,0.39,0.37,0.41,0.41,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15651992;16600026;17244366;19454612;20687218","婴儿型高钙血症","AR",143880,5,3,2,1,"CYP24A1",1,90,"同义",13203,"0.4762=60/126",null,1591,"20q13","NM_000782",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8317",192,87,0.45,{"$nulls":3},"A有","32629A","CYP2A7","chr19:41381647","c.1436T>G(exon9)","p.V479G","rs12460590",0.71,0.7,0.75,0.65,0.6,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,21,0,"CYP2A7",1,160,"非同义",12220,"0.4398=95/216",null,1549,"19q13.2","NM_000764",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8383",122,122,1,{"$nulls":3},"A有","32629A","CYP4F3","chr19:15757927","c.397+12T>C(exon4)","非编码区","rs1290626",0.75,0.84,0.86,0.83,0.86,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"CYP4F3",1,130,"非编码区",16203,"1.0000=144/144",null,4051,"19p13.2","NM_001199208",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8412",160,160,1,{"$nulls":3},"A有","32629A","CYSLTR1","chrX:77528317","c.927C>T(exon3)","p.F309F","rs320995",null,0.63,0.58,0.68,0.62,0.64,"纯合","未知","预测范围之外的同义突变","18829683;18366797;19665766;20592916",{"$nulls":3},4,null,1,0,"CYSLTR1",1,170,"同义",13303,"1.0000=177/177",null,10800,"Xq13.2-q21.1","NM_006639","rs320995|\"Asthma_association_with\"|18829683",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8442",31,31,1,{"$nulls":3},"A有","32629A","DACH2","chrX:86087385","c.*319A>T(exon12)","非编码区","rs3087525",null,0.56,0.55,0.57,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"DACH2",1,170,"非编码区",14300,"1.0000=33/33",null,117154,"Xq21.3","NM_001139514",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8511",131,131,1,{"$nulls":3},"A有","32629A","DCAF4","chr14:73404795","c.92+17G>A(exon2)","非编码区","rs2302587",0.21,0.14,0.13,0.16,0.17,0.14,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DCAF4",1,100,"非编码区",16203,"1.0000=143/143",null,26094,"14q24.3","NM_015604",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8534",21,11,0.52,{"$nulls":3},"A有","32629A","DCHS1","chr11:6648573","c.5697A>G(exon14)","p.A1899A","rs11040936",0.042,0.17,0.17,0.17,0.17,0.21,"杂合","未知","预测范围之外的同义突变",null,"Van Maldergem综合征1型","AR",601390,4,3,8,1,"DCHS1",1,55,"同义",13103,"0.5238=11/21",null,8642,"11p15.4","NM_003737",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8560",29,14,0.48,{"$nulls":3},"A有","32629A","DCHS2","chr4:155412464","c.44G>A(exon1)","p.R15Q","rs13149269",0.37,0.16,0.17,0.16,0.13,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,23,0,"DCHS2",1,100,"非同义",12220,"0.5161=16/31",null,54798,"4q31.3","NM_001142552",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8589",15,15,1,{"$nulls":3},"A有","32629A","DCTD","chr4:183812301","c.*251A>G(exon6)","非编码区","rs3088349",0.37,0.24,0.19,0.28,0.24,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"DCTD",0.98,110,"非编码区",14200,"1.0000=16/16",null,1635,"4q35.1","NM_001012732",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8661",111,111,1,{"$nulls":3},"A有","32629A","DDX39B","chr6:31506624","c.348A>G(exon4)","p.V116V","rs1129640",0.88,0.91,0.91,0.91,0.92,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",12509789,{"$nulls":3},5,null,2,0,"DDX39B",0.9,38,"同义",13203,"1.0000=119/119",null,7919,"6p21.3","NM_004640",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8686",17,3,0.18,{"$nulls":3},"A有","32629A","DDX51","chr12:132628285","c.474C>T(exon2)","p.V158V","rs191101265",0.043,0.058,0.043,0.073,0.073,0.067,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"DDX51",1,48,"同义",13103,"0.2381=5/21",null,317781,"12q24.33","NM_175066",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8714",165,165,1,{"$nulls":3},"A有","32629A","DDX60L","chr4:169336662","c.2876A>G(exon22)","p.Y959C","rs4692661",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,18,0,"DDX60L",1,180,"非同义",12210,"1.0000=180/180",null,91351,"4q32.3","NM_001012967",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8784",27,17,0.63,{"$nulls":3},"A有","32629A","DENND3","chr8:142204326","c.3591C>G(exon23)","p.G1197G","rs1045248",0.51,0.68,0.7,0.66,0.64,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"DENND3",1,83,"同义",13203,"0.6452=20/31",null,22898,"8q24.3","NM_014957",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8814",124,58,0.47,{"$nulls":3},"A有","32629A","DEPDC5","chr22:32229977","c.2170+11G>A(exon25)","非编码区","rs55645350",0.082,0.041,0.048,0.034,0.043,0.038,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"家族性局灶性癫痫伴可变灶","AD",604364,5,1,4,1,"DEPDC5",1,110,"非编码区",16203,"0.4853=66/136",null,9681,"22q12.3","NM_001242896",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8829",19,10,0.53,{"$nulls":3},"A有","32629A","DET1","chr15:89056040","c.*142G>T(exon6)","非编码区","rs13835",0.26,0.14,0.13,0.15,0.14,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DET1",1,87,"非编码区",14200,"0.5455=12/22",null,55070,"15q25.3","NM_017996",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8891",26,11,0.42,{"$nulls":3},"A有","32629A","DHRS3","chr1:12638964","c.480A>G(exon4)","p.P160P","rs2275875",0.8,0.69,0.7,0.68,0.69,0.73,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DHRS3",1,72,"同义",13203,"0.3929=11/28",null,9249,"1p36.1","NM_004753",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8916",27,27,1,{"$nulls":3},"A有","32629A","DHX37","chr12:125437019","c.2793A>G(exon21)","p.A931A","rs4429156",0.66,0.84,0.84,0.84,0.82,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"DHX37",1,54,"同义",13203,"1.0000=29/29",null,57647,"12q24.31","NM_032656",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v8946",79,49,0.62,{"$nulls":3},"A有","32629A","DIAPH3","chr13:60545212","c.1733C>T(exon16)","p.P578L","rs76366906",0.008,0.031,0.024,0.039,0.019,0.031,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"常染色体显性遗传听神经病1型","AD",609129,2,1,5,1,"DIAPH3",1,180,"非同义",12110,"0.6353=54/85",null,81624,"13q21.2","NM_001042517",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["32629A(745)v9003",29,17,0.59,{"$nulls":3},"A有","32629A","DLAT","chr11:111896324","c.128C>T(exon1)","p.A43V","rs2303436",0.36,0.59,0.58,0.6,0.6,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","丙酮酸脱氢酶E2缺陷","AR",245348,5,3,3,1,"DLAT",1,170,"非同义",12220,"0.5429=19/35",null,1737,"11q23.1","NM_001931",null,"ALA43VAL|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"]
["32629A(745)v9028",50,23,0.46,{"$nulls":3},"A有","32629A","DLG4","chr17:7099811","c.1296C>T(exon12)","p.I432I","rs17203281",0.25,0.31,0.29,0.33,0.33,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12444087;17093888;25330160",{"$nulls":3},5,null,5,0,"DLG4",1,73,"同义",13203,"0.4464=25/56",null,1742,"17p13.1","NM_001365",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9051",10,9,0.9,{"$nulls":3},"A有","32629A","DLX3","chr17:48072426","c.-64C>T(exon1)","非编码区","rs2278163",0.38,0.64,0.63,0.65,0.65,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4型","AD",104510,5,1,4,2,"DLX3",1,72,"非编码区",14200,"0.8333=10/12",null,1747,"17q21","NM_005220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9069",156,156,1,{"$nulls":3},"A有","32629A","DMD","chrX:32503194","c.2276A>G(exon21)","p.D759G","rs228406",null,0.9,0.91,0.9,0.86,0.88,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",18339804,"扩张性心肌病(X连锁遗传)",null,302045,3,1,7,3,"DMD",1,190,"非同义",12330,"1.0000=177/177",null,1756,"Xp21.2","NM_004010",null,"rs228406|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"]
["32629A(745)v9235",19,19,1,{"$nulls":3},"A有","32629A","DNAH1","chr3:52415865","c.7805+13A>G(exon49)","非编码区","rs770284",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DNAH1",1,65,"非编码区",16203,"1.0000=20/20",null,25981,"3p21.1","NM_015512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9158",93,93,1,{"$nulls":3},"A有","32629A","DNAH11","chr7:21775443","c.7648G>A(exon46)","p.D2550N","rs2072221",null,0.53,0.51,0.54,0.53,0.52,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",24033266,"原发性纤毛运动障碍7型（伴或不伴内脏异位）","AR",611884,3,1,24,1,"DNAH11",1,180,"非同义",12330,"1.0000=102/102",null,8701,"7p21","NM_003777",null,"rs2072221|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"]
["32629A(745)v9190",232,120,0.52,{"$nulls":3},"A有","32629A","DNAH14","chr1:225305572","c.3973-11C>G(exon25)","非编码区","rs16843988",0.11,0.23,0.25,0.21,0.21,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,23,0,"DNAH14",1,210,"非编码区",16202,"0.5117=131/256",null,127602,"1q42.12","NM_001373",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9261",83,34,0.41,{"$nulls":3},"A有","32629A","DNAH5","chr5:13719022","c.12468A>C(exon72)","p.G4156G","rs30169",0.42,0.39,0.4,0.38,0.36,0.41,"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3型（伴或不伴内脏异位）",null,608644,5,2,21,1,"DNAH5",1,160,"同义",13203,"0.4302=37/86",null,1767,"5p15.2","NM_001369",null,"rs30169|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"]
["32629A(745)v9287",123,123,1,{"$nulls":3},"A有","32629A","DNAH7","chr2:196866420","c.1152G>A(exon11)","p.T384T","rs6434811",0.65,0.65,0.62,0.67,0.67,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"DNAH7",1,170,"同义",13203,"1.0000=135/135",null,56171,"2q32.3","NM_018897",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9317",60,34,0.57,{"$nulls":3},"A有","32629A","DNAI2","chr17:72305534","c.1347+7C>T(exon10)","非编码区","rs2290955",0.36,0.23,0.19,0.28,0.26,0.26,"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9型（伴或不伴内脏异位）",null,612444,5,2,5,1,"DNAI2",1,91,"非编码区",16203,"0.5625=36/64",null,64446,"17q25","NM_023036",null,"rs2290955|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"]
["32629A(745)v9384",22,14,0.64,{"$nulls":3},"A有","32629A","DNHD1","chr11:6579539","c.9002+12A>G(exon25)","非编码区","rs10839583",0.27,0.31,0.28,0.34,0.28,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"DNHD1",1,68,"非编码区",16203,"0.6667=16/24",null,144132,"11p15.4","NM_144666",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9409",66,66,1,{"$nulls":3},"A有","32629A","DNMT3B","chr20:31386347","c.1572T>C(exon15)","p.C524C","rs6058891",0.76,0.99,1,0.98,0.88,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"免疫机能丧失,着丝粒的不稳定和面部畸形综合症1型","AR",242860,5,1,6,1,"DNMT3B",1,120,"同义",13203,"1.0000=76/76",null,1789,"20q11.2","NM_006892",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9432",301,130,0.43,{"$nulls":3},"A有","32629A","DOCK11","chrX:117815650","c.5863-7G>A(exon51)","非编码区","rs2275917",null,0.25,0.22,0.29,null,0.2,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,4,0,"DOCK11",1,230,"非编码区",16302,"0.4330=152/351",null,139818,"Xq24","NM_144658",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9465",42,25,0.6,{"$nulls":3},"A有","32629A","DOCK6","chr19:11326119","c.4050T>C(exon32)","p.N1350N","rs2304155",0.5,0.5,0.5,0.51,0.54,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Adams-Oliver 综合征2型","AR",614219,5,3,10,1,"DOCK6",1,63,"同义",13203,"0.6047=26/43",null,57572,"19p13.2","NM_020812",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9520",17,7,0.41,{"$nulls":3},"A有","32629A","DPAGT1","chr11:118967524","c.*184G>A(exon9)","非编码区","rs8551",0.44,0.62,0.59,0.64,0.61,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17851762;18638378;21512825","先天性肌无力综合征伴管聚集2型","AR",614750,5,3,2,2,"DPAGT1",1,110,"非编码区",14200,"0.5000=10/20",null,1798,"11q23.3","NM_001382",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9545",274,127,0.46,{"$nulls":3},"A有","32629A","DPP10","chr2:116594150","c.1959+9T>C(exon24)","非编码区","rs145699723",0.028,0.0048,0,0.0097,0.013,0.012,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,6,0,"DPP10",0.98,220,"非编码区",16103,"0.4615=144/312",null,57628,"2q14.1","NM_001178036",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9575",55,28,0.51,{"$nulls":3},"A有","32629A","DPY19L2","chr12:64062023","c.151T>G(exon1)","p.S51A","rs10878073",0.4,0.57,0.54,0.61,0.59,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精子生成障碍9","AR",613958,5,3,6,1,"DPY19L2",1,190,"非同义",12220,"0.4833=29/60",null,283417,"12q14.2","NM_173812",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9636",70,70,1,{"$nulls":3},"A有","32629A","DSCAML1","chr11:117335722","c.3381A>G(exon17)","p.Q1127Q","rs538847",0.74,0.9,0.91,0.89,0.89,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"DSCAML1",1,71,"同义",13203,"1.0000=73/73",null,57453,"11q23","NM_020693",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9668",142,142,1,{"$nulls":3},"A有","32629A","DSP","chr6:7563983","c.741T>G(exon6)","p.A247A","rs2806234",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",24033266,"扩张性心肌病伴羊毛状发及皮肤角化病",null,605676,4,1,5,6,"DSP",1,120,"同义",13303,"1.0000=161/161",null,1832,"6p24","NM_004415",null,"rs2806234|Likely benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9657",149,148,0.99,{"$nulls":3},"A有","32629A","DSPP","chr4:88534235","c.897A>G(exon4)","p.S299S","rs2736982",0.67,0.71,0.71,0.71,0.7,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"牙质形成不全，SHIELDS3型","AD",125500,5,1,11,4,"DSPP",1,290,"同义",13203,"0.9942=170/171",null,1834,"4q21.3","NM_014208",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9702",158,64,0.41,{"$nulls":3},"A有","32629A","DUOX1","chr15:45457106","c.*7G>T(exon35)","非编码区","rs12438755",0.26,0.32,0.35,0.3,0.31,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"DUOX1",1,100,"非编码区",14200,"0.4011=73/182",null,53905,"15q15.3","NM_017434",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9745",77,77,1,{"$nulls":3},"A有","32629A","DUSP1","chr5:172196711","c.600C>A(exon3)","p.I200I","rs2431663",0.85,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"DUSP1",0.97,53,"同义",13203,"1.0000=81/81",null,1843,"5q34","NM_004417",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9755",2,2,1,{"$nulls":3},"A有","32629A","DUSP27","chr1:167098131","c.*286G>A(exon5)","非编码区","rs267748",0.81,0.91,0.91,0.91,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"DUSP27",1,85,"非编码区",14200,"1.0000=2/2",null,92235,"1q22-q24","NM_001080426",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9810",133,61,0.46,{"$nulls":3},"A有","32629A","DZANK1","chr20:18395988","c.1060G>A(exon11)","p.G354S","rs6035037",0.25,0.17,0.2,0.14,0.18,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"DZANK1",1,120,"非同义",12220,"0.4867=73/150",null,55184,"20p11.23","NM_001099407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9840",81,37,0.46,{"$nulls":3},"A有","32629A","EARS2","chr16:23563501","c.264G>A(exon2)","p.A88A","rs7187920",0.67,0.67,0.67,0.67,0.68,0.69,"杂合","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12型","AR",614924,5,3,5,1,"EARS2",1,63,"同义",13203,"0.4526=43/95",null,124454,"16p12.2","NM_001083614",null,"rs7187920|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"]
["32629A(745)v9870",48,21,0.44,{"$nulls":3},"A有","32629A","ECHDC3","chr10:11805339","c.708C>T(exon5)","p.I236I","rs17850531",0.2,0.31,0.3,0.32,0.24,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ECHDC3",1,69,"同义",13203,"0.4727=26/55",null,79746,"10p14","NM_024693",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9893",37,37,1,{"$nulls":3},"A有","32629A","EDAR","chr2:109513321","c.*42G>T(exon12)","非编码区","rs7607563",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","CLINVAR数据库","毛发形态学1型",null,612630,5,1,4,3,"EDAR",1,78,"非编码区",14200,"1.0000=45/45",null,10913,"2q13","NM_022336",null,"rs7607563|not provided|NA|NA|no assertion provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9948",11,5,0.45,{"$nulls":3},"A有","32629A","EFCAB12","chr3:129130197","c.839A>G(exon5)","p.H280R","rs9836111",0.15,0.43,0.48,0.37,0.39,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"EFCAB12",1,85,"非同义",12220,"0.5000=6/12",null,90288,"3q21.3","NM_207307",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v9975",50,50,1,{"$nulls":3},"A有","32629A","EFCAB5","chr17:28296327","c.709T>G(exon4)","p.L237V","rs9897794",0.54,0.7,0.68,0.73,0.66,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"EFCAB5",0.98,170,"非同义",12220,"1.0000=59/59",null,374786,"17q11.2","NM_198529",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10003",105,47,0.45,{"$nulls":3},"A有","32629A","EFNA1","chr1:155106054","c.454+10A>G(exon3)","非编码区","rs4390169",0.32,0.17,0.19,0.15,0.16,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"EFNA1",1,67,"非编码区",16203,"0.4667=56/120",null,1942,"1q21-q22","NM_004428",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10067",3,3,1,{"$nulls":3},"A有","32629A","EHMT2","chr6:31856070","c.1510-17C>T(exon13)","非编码区","rs486416",0.82,0.79,0.78,0.8,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17660530,{"$nulls":3},5,null,2,0,"EHMT2",0.61,15,"非编码区",16202,"1.0000=3/3",null,10919,"6p21.31","NM_006709",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10093",75,36,0.48,{"$nulls":3},"A有","32629A","EIF2B4","chr2:27589810","c.1014-7A>G(exon11)","非编码区","rs2280737",0.38,0.15,0.18,0.12,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23757202;20734064","白质消融性脑白质病","AR",603896,5,3,2,1,"EIF2B4",1,83,"非编码区",16202,"0.5000=42/84",null,8890,"2p23.3","NM_001034116",null,"rs2280737|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10121",125,63,0.5,{"$nulls":3},"A有","32629A","EIF4EBP2","chr10:72179746","c.222C>T(exon2)","p.H74H","rs1043098",0.51,0.73,0.77,0.7,0.74,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,5,0,"EIF4EBP2",1,91,"同义",13203,"0.4583=66/144",null,1979,"10q21-q22","NM_004096",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10192",13,6,0.46,{"$nulls":3},"A有","32629A","ELP5","chr17:7162451","c.*344G>A(exon7)","非编码区","rs2106842",0.59,0.4,0.4,0.39,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ELP5",1,110,"非编码区",14200,"0.4615=6/13",null,23587,"17p13.1","NM_203413",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10199",3,2,0.67,{"$nulls":3},"A有","32629A","EMB","chr5:49737223","c.-238C>A(exon1)","非编码区","rs72751723",0.036,0.067,0.062,0.073,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"EMB",1,170,"非编码区",14100,"0.6667=2/3",null,133418,"5q11.1","NM_198449",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10247",2,2,1,{"$nulls":3},"A有","32629A","EMP2","chr16:10624989","c.*1773C>A(exon5)","非编码区","rs7188138",0.81,0.83,0.83,0.83,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肾病综合征10型",null,615861,5,1,3,1,"EMP2",1,97,"非编码区",14200,"1.0000=2/2",null,2013,"16p13.2","NM_001424",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10310",57,57,1,{"$nulls":3},"A有","32629A","ENPP4","chr6:46107752","c.432C>G(exon2)","p.H144Q","rs7451713",0.45,0.44,0.42,0.46,0.45,0.42,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ENPP4",1,110,"非同义",12210,"1.0000=59/59",null,22875,"6p21.1","NM_014936",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10340",24,24,1,{"$nulls":3},"A有","32629A","ENTPD8","chr9:140329265","c.*101C>G(exon10)","非编码区","rs28725243",0.38,0.7,0.7,0.69,0.72,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ENTPD8",1,59,"非编码区",14200,"1.0000=28/28",null,377841,"9q34.3","NM_001033113",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10362",56,56,1,{"$nulls":3},"A有","32629A","EPB41L2","chr6:131276473","c.493-16T>C(exon3)","非编码区","rs45550834",0.61,0.93,0.94,0.91,0.89,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"EPB41L2",1,140,"非编码区",16202,"1.0000=58/58",null,2037,"6q23","NM_001431",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10386",87,47,0.54,{"$nulls":3},"A有","32629A","EPG5","chr18:43490602","c.4089C>T(exon23)","p.H1363H","rs3744996",0.27,0.29,0.29,0.3,0.26,0.3,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Vici综合征","AR",242840,5,3,4,1,"EPG5",1,130,"同义",13203,"0.4948=48/97",null,57724,"18q12.3","NM_020964",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10452",44,26,0.59,{"$nulls":3},"A有","32629A","EPS8L1","chr19:55598724","c.2006A>G(exon19)","p.K669R","rs1054940",0.47,0.46,0.47,0.46,0.42,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"EPS8L1",1,49,"非同义",12220,"0.5909=26/44",null,54869,"19q13.42","NM_133180",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10483",93,93,1,{"$nulls":3},"A有","32629A","ERAP1","chr5:96124330","c.1583A>G(exon11)","p.K528R","rs30187",0.6,0.51,0.51,0.5,0.52,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","11857741;18846218;18853133;19404951;19414429",{"$nulls":3},5,null,12,0,"ERAP1",1,81,"非同义",12220,"1.0000=100/100",null,51752,"5q15","NM_016442","rs30187|\"Raised_blood_pressure_reduced_risk_association_with\"|11857741",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10503",61,61,1,{"$nulls":3},"A有","32629A","ERCC1","chr19:45923653","c.354T>C(exon4)","p.N118N","rs11615",0.67,0.74,0.73,0.75,0.75,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15734977;17299578;18332046;18544627;18635523","脑额骨综合征4型","AR",610758,5,1,5,1,"ERCC1",1,77,"同义",13203,"1.0000=68/68",null,2067,"19q13.32","NM_001983",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10549",41,24,0.59,{"$nulls":3},"A有","32629A","ERV3-1","chr7:64451558","c.*32C>T(exon2)","非编码区","rs11771269",0.39,0.38,0.39,0.37,0.36,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"ERV3-1",1,98,"非编码区",14200,"0.5455=24/44",null,2086,"7q11.2","NM_001007253",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10571",61,61,1,{"$nulls":3},"A有","32629A","ESF1","chr20:13695464","c.*57A>G(exon14)","非编码区","rs6079145",0.93,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ESF1",1,130,"非编码区",14200,"1.0000=64/64",null,51575,"20p12.1","NM_016649",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10600",178,178,1,{"$nulls":3},"A有","32629A","ESR1","chr6:152201875","c.729T>C(exon5)","p.R243R","rs4986934",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15217512;18271972;18990228;19319135","有或无先兆的偏头痛（易感）","AD",157300,5,1,1,4,"ESR1",1,90,"同义",13203,"1.0000=215/215",null,2099,"6q25.1","NM_001122742",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10671",135,135,1,{"$nulls":3},"A有","32629A","EVC","chr4:5743512","c.772T>C(exon6)","p.Y258H","rs6414624",0.74,0.91,0.92,0.9,0.9,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18947413;20184732","Weyers头面骨发育不全综合征","AD",193530,5,1,15,2,"EVC",1,110,"非同义",12220,"1.0000=151/151",null,2121,"4p16","NM_153717",null,"TYR258HIS|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"]
["32629A(745)v10676",39,25,0.64,{"$nulls":3},"A有","32629A","EVC","chr4:5750003","c.1068A>G(exon8)","p.L356L","rs33929747",0.22,0.17,0.16,0.17,0.2,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"埃利伟氏综合症","AR",225500,5,3,15,2,"EVC",1,110,"同义",13203,"0.6364=28/44",null,2121,"4p16","NM_153717",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10709",117,117,1,{"$nulls":3},"A有","32629A","EXD1","chr15:41483631-41483632","c.690+8(exon8)_c.690+9(exon8)insT","非编码区","rs11371504",0.97,1,1,1,1,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,4,0,"EXD1",1,130,"非编码区",2500,"1.0000=137/137",null,161829,"15q15.1","NM_152596",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10772",184,184,1,{"$nulls":3},"A有","32629A","EYA1","chr8:72129009","c.1278C>T(exon14)","p.G426G","rs4738118",0.29,0.65,0.67,0.63,0.62,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"鳃-耳-肾综合症","AD",602588,5,1,3,3,"EYA1",1,200,"同义",13203,"1.0000=209/209",null,2138,"8q13.3","NM_000503",null,"rs4738118|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"]
["32629A(745)v10798",78,43,0.55,{"$nulls":3},"A有","32629A","F10","chr13:113801737","c.792C>T(exon7)","p.T264T","rs5960",0.62,0.49,0.48,0.5,0.5,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17048007,"凝血因子X缺乏症","AR",227600,5,3,2,1,"F10",1,87,"同义",13203,"0.5542=46/83",null,2159,"13q34","NM_000504",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10819",124,124,1,{"$nulls":3},"A有","32629A","F3","chr1:95001600","c.333T>G(exon3)","p.P111P","rs698946",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"F3",1,150,"同义",13203,"1.0000=135/135",null,2152,"1p22-p21","NM_001993",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10825",160,82,0.51,{"$nulls":3},"A有","32629A","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,"活化蛋白C抵抗引起的易栓症/凝血因子V莱顿易栓症","AD",188055,5,1,9,5,"F5",1,180,"同义",13203,"0.5189=96/185",null,2153,"1q23","NM_000130","rs6035|\"Thrombosis_increased_risk\"|16542711",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10880",482,202,0.42,{"$nulls":3},"A有","32629A","FAM104B","chrX:55172687","c.181A>G(exon3)","p.S61G","rs1047037",{"$nulls":4},0.7,0,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,15,0,"FAM104B",1,650,"非同义",12310,"0.4304=241/560",null,90736,"Xp11.21","NM_001166699",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10909",211,115,0.55,{"$nulls":3},"A有","32629A","FAM120AOS","chr9:96212813","c.632G>A(exon2)","p.S211N","rs41274386",0.024,0.017,0.014,0.019,0.015,0.029,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"FAM120AOS",1,220,"非同义",12120,"0.5487=124/226",null,158293,"9q22.31","NM_198841",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v10937",74,33,0.45,{"$nulls":3},"A有","32629A","FAM129C","chr19:17660300","c.1807G>A(exon15)","p.G603S","rs11666267",0.4,0.35,0.34,0.35,0.34,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"FAM129C",1,59,"非同义",12220,"0.4471=38/85",null,199786,"19p13.11","NM_173544",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11008",35,21,0.6,{"$nulls":3},"A有","32629A","FAM160B2","chr8:21955116","c.387C>T(exon4)","p.V129V","rs11352",0.37,0.39,0.42,0.36,0.41,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FAM160B2",1,54,"同义",13203,"0.6000=21/35",null,64760,"8p21.3","NM_022749",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11036",171,78,0.46,{"$nulls":3},"A有","32629A","FAM171A1","chr10:15317835-15317835","c.418+19(exon3)delT","非编码区","rs45612734",0.39,0.3,0.28,0.31,0.033,0.32,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"FAM171A1",1,99,"非编码区",2500,"0.4422=88/199",null,221061,"10p13","NM_001010924",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v11066",39,22,0.56,{"$nulls":3},"A有","32629A","FAM179A","chr2:29226559","c.830+11C>T(exon6)","非编码区","rs12619829",0.65,0.65,0.64,0.66,0.64,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"FAM179A",1,64,"非编码区",16203,"0.5682=25/44",null,165186,"2p23.2","NM_199280",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11096",52,52,1,{"$nulls":3},"A有","32629A","FAM186A","chr12:50744094","c.6503+18C>T(exon4)","非编码区","rs7296277",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"FAM186A",1,160,"非编码区",16203,"1.0000=56/56",null,121006,"12q13.12","NM_001145475",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11163",79,35,0.44,{"$nulls":3},"A有","32629A","FAM19A4","chr3:68782213","c.*80T>C(exon6)","非编码区","rs6549143",0.7,0.9,0.92,0.88,0.91,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"FAM19A4",1,85,"非编码区",14200,"0.4253=37/87",null,151647,"3p14.1","NM_182522",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11178",62,27,0.44,{"$nulls":3},"A有","32629A","FAM205A","chr9:34724796","c.2441A>T(exon4)","p.E814V","rs150496452",0.4,0.56,0.61,0.51,0.5,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"FAM205A",1,72,"非同义",12220,"0.4286=30/70",null,259308,"9p12","NM_001141917",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11218",15,4,0.27,{"$nulls":3},"A有","32629A","FAM20C","chr7:299987","c.*41C>G(exon10)","非编码区","rs36138803",0.59,0.54,0.52,0.57,0.48,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"致死性骨硬化发育不良","AR",259775,5,3,7,1,"FAM20C",1,45,"非编码区",14200,"0.2632=5/19",null,56975,"7p22.3","NM_020223",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11290",63,27,0.43,{"$nulls":3},"A有","32629A","FAM57B","chr16:30037128","c.459T>G(exon4)","p.G153G","rs11544328",0.44,0.39,0.4,0.38,0.4,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FAM57B",1,56,"同义",13203,"0.4474=34/76",null,83723,"16p11.2","NM_031478",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11320",13,7,0.54,{"$nulls":3},"A有","32629A","FAM69C","chr18:72114181","c.536G>A(exon2)","p.R179H","rs3752101",0.037,0.12,0.086,0.15,0.13,0.19,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"FAM69C",1,47,"非同义",12120,"0.5385=7/13",null,125704,"18q22.3","NM_001044369",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11346",98,98,1,{"$nulls":3},"A有","32629A","FAM82A1","chr2:38179134","c.776G>A(exon2)","p.G259D","rs4670800",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"FAM82A1",1,170,"非同义",12220,"1.0000=111/111",null,151393,"2p22.2","NM_144713",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11417",165,165,1,{"$nulls":3},"A有","32629A","FANCA","chr16:89849480","c.1501G>A(exon16)","p.G501S","rs2239359",0.62,0.81,0.86,0.77,0.83,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24728327;23021409;17267408;24045675","范可尼贫血,互补A组","AR",227650,5,1,13,1,"FANCA",1,88,"非同义",12220,"1.0000=180/180",null,2175,"16q24.3","NM_000135","GLY501SER|\"Breast_cancer_association_with\"|23021409","GLY501SER|not provided|NA|NA|no assertion provided|PubMed:24728327",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11447",185,36,0.19,{"$nulls":3},"A有","32629A","FANK1","chr10:127585237","c.13+13C>T(exon1)","非编码区","rs5013589",{"$nulls":4},0.23,0.32,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,11,0,"FANK1",1,180,"非编码区",16303,"0.1962=41/209",null,92565,"10q26.2","NM_145235",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11472",56,32,0.57,{"$nulls":3},"A有","32629A","FASN","chr17:80040430","c.5892C>T(exon34)","p.P1964P","rs199700916",{"$nulls":4},5.8E-4,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"FASN",1,45,"同义",13303,"0.6066=37/61",null,2194,"17q25","NM_004104",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11544",50,29,0.58,{"$nulls":3},"A有","32629A","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,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"FAT3",1,110,"非编码区",16202,"0.5962=31/52",null,120114,"11q14.3","NM_001008781",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11561",45,44,0.98,{"$nulls":3},"A有","32629A","FBLIM1","chr1:16096934","c.572C>T(exon6)","p.S191F","rs10927851",0.64,0.81,0.84,0.78,0.78,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16574953;18843385",{"$nulls":3},5,null,1,0,"FBLIM1",1,65,"非同义",12210,"0.9815=53/54",null,54751,"1p36.21","NM_017556","rs10927851|\"Leukaemia_risk_association_with\"|16574953",{"$nulls":3},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v11580",158,158,1,{"$nulls":3},"A有","32629A","FBN1","chr15:48720526","c.6997+17C>G(exon57)","非编码区","rs363832",0.66,0.63,0.63,0.62,0.62,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19836009,"二尖瓣脱垂综合征",null,604308,5,1,3,7,"FBN1",1,140,"非编码区",16203,"1.0000=177/177",null,2200,"15q21.1","NM_000138",null,"rs363832|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"]
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["32629A(745)v12740",82,45,0.55,{"$nulls":3},"A有","32629A","GALNS","chr16:88902183","c.708C>T(exon7)","p.H236H","rs1064315",0.32,0.62,0.64,0.6,0.61,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"粘多糖贮积症IVA型/Morquio综合征A型","AR",253000,5,3,4,1,"GALNS",1,67,"同义",13203,"0.5455=48/88",null,2588,"16q24.3","NM_000512",null,"rs1064315|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v12766",61,61,1,{"$nulls":3},"A有","32629A","GALNT8","chr12:4881775","c.*12T>C(exon11)","非编码区","rs2286582",0.43,0.41,0.42,0.41,0.39,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"GALNT8",1,120,"非编码区",14200,"1.0000=64/64",null,26290,"12p13.3","NM_017417",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v12798",12,5,0.42,{"$nulls":3},"A有","32629A","GAR1","chr4:110745854","c.*267C>G(exon7)","非编码区","rs10365",0.48,0.5,0.49,0.5,0.47,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GAR1",1,270,"非编码区",14200,"0.4167=5/12",null,54433,"4q25","NM_018983",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v12853",154,154,1,{"$nulls":3},"A有","32629A","GBP1","chr1:89522646","c.1046C>G(exon7)","p.T349S","rs1048425",0.72,0.57,0.58,0.56,0.61,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"GBP1",1,180,"非同义",12210,"1.0000=178/178",null,2633,"1p22.2","NM_002053",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v12879",153,85,0.56,{"$nulls":3},"A有","32629A","GBP6","chr1:89849201","c.1366-10C>G(exon9)","非编码区","rs928652",0.86,0.72,0.73,0.7,0.75,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"GBP6",1,170,"非编码区",16202,"0.5449=91/167",null,163351,"1p22.2","NM_198460",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v12905",33,33,1,{"$nulls":3},"A有","32629A","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,"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2型","AD",125851,5,1,1,4,"GCK",1,64,"非编码区",16203,"1.0000=34/34",null,2645,"7p15.3-p15.1","NM_000162",null,"rs2908274|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"]
["32629A(745)v12960",40,17,0.42,{"$nulls":3},"A有","32629A","GEMIN4","chr17:649935","c.1348C>G(exon2)","p.Q450E","rs2740348",0.89,0.88,0.9,0.87,0.89,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19047128;19138993;20211803;22506892",{"$nulls":3},5,null,5,0,"GEMIN4",1,64,"非同义",12220,"0.4419=19/43",null,50628,"17p13","NM_015721","rs2740348|\"Renal_cell_carcinoma_reduced_risk_association_with\"|19047128",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v12989",21,13,0.62,{"$nulls":3},"A有","32629A","GFPT2","chr5:179740827","c.1411A>G(exon14)","p.I471V","rs2303007",0.23,0.39,0.41,0.36,0.36,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",14764791,{"$nulls":3},5,null,5,0,"GFPT2",1,82,"非同义",12220,"0.6154=16/26",null,9945,"5q34-q35","NM_005110","ILE471VAL|\"Diabetic_nephropathy_association_with\"|14764791",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13016",100,100,1,{"$nulls":3},"A有","32629A","GGCX","chr2:85781318","c.837A>C(exon7)","p.G279G","rs1254896",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"弹性纤维假黄瘤样障碍伴多凝血因子缺陷",null,610842,5,1,3,2,"GGCX",1,110,"同义",13203,"1.0000=116/116",null,2677,"2p12","NM_000821",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13083",24,16,0.67,{"$nulls":3},"A有","32629A","GIMAP6","chr7:150324825","c.1071G>A(exon3)","p.L357L","rs3735084",0.28,0.32,0.29,0.36,0.34,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GIMAP6",1,55,"同义",13203,"0.5926=16/27",null,474344,"-","NM_001244072",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13110",5,3,0.6,{"$nulls":3},"A有","32629A","GJB2","chr13:20762956","c.*84T>C(exon2)","非编码区","rs3751385",0.69,0.57,0.6,0.54,0.53,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16773579;20126254;22890607;23252691","常染色体隐性遗传耳聋1A型","AR",220290,5,3,3,7,"GJB2",1,93,"非编码区",14200,"0.6000=3/5",null,2706,"13q11-q12","NM_004004",null,"rs3751385|Benign|OMIM:220290|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"]
["32629A(745)v13113",97,47,0.48,{"$nulls":3},"A有","32629A","GJB3","chr1:35250720","c.357C>T(exon2)","p.N119N","rs41310442",0.098,0.12,0.11,0.12,0.11,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"可变性红斑皮肤角化病","AD,AR",133200,5,1,1,3,"GJB3",1,100,"同义",13203,"0.4771=52/109",null,2707,"1p34","NM_024009",null,"rs41310442|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13159",8,8,1,{"$nulls":3},"A有","32629A","GLI3","chr7:42005678","c.2993C>T(exon15)","p.P998L","rs929387",0.42,0.79,0.73,0.84,0.82,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17029207;22984994;23549991","Pallister-Hall综合征1型","AD",146510,5,1,4,5,"GLI3",1,80,"非同义",12220,"1.0000=8/8",null,2737,"7p13","NM_000168","rs929387|\"Talipes_equinovarus_congential_idiopathic_association_with\"|17029207",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13177",2,2,1,{"$nulls":3},"A有","32629A","GLIS3","chr9:4118111","c.1367C>A(exon4)","p.P456Q","rs6415788",0.68,0.89,0.9,0.88,0.73,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","新生儿糖尿病伴先天性甲状腺功能低下症",null,610199,5,1,1,1,"GLIS3",1,100,"非同义",12220,"1.0000=2/2",null,169792,"9p24.2","NM_001042413",null,"PRO301GLN|Likely benign|NA|NA|no assertion criteria provided|NA;rs6415788|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"]
["32629A(745)v13203",45,28,0.62,{"$nulls":3},"A有","32629A","GLRX2","chr1:193074651","c.118A>T(exon1)","p.R40W","rs10921310",0.68,0.39,0.4,0.38,0.41,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GLRX2",1,130,"非同义",12220,"0.6400=32/50",null,51022,"1q31.2","NM_016066",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13233",21,11,0.52,{"$nulls":3},"A有","32629A","GLTSCR1","chr19:48205725","c.*53T>C(exon15)","非编码区","rs3745760",0.39,0.33,0.34,0.33,0.33,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22174851,{"$nulls":3},5,null,8,0,"GLTSCR1",1,25,"非编码区",14200,"0.5238=11/21",null,29998,"19q13.3","NM_015711",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13289",165,88,0.53,{"$nulls":3},"A有","32629A","GNAS","chr20:57478807","c.2322C>T(exon5)","p.I774I","rs7121",0.64,0.68,0.7,0.65,0.63,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","10406816;15564881;16642433;18454203;18559376","大结节样肾上腺增生",null,219080,5,2,3,8,"GNAS",1,65,"同义",13203,"0.5333=96/180",null,2778,"20q13.3","NM_080425","rs7121|\"Essential_hypertension_association_with\"|10406816","rs7121|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13305",33,14,0.42,{"$nulls":3},"A有","32629A","GNG5","chr1:84971833","c.-59C>G(exon2)","非编码区","rs11163985",0.19,0.036,0.038,0.034,0.05,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GNG5",1,94,"非编码区",14200,"0.4412=15/34",null,2787,"1p22","NM_005274",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13332",145,145,1,{"$nulls":3},"A有","32629A","GNS","chr12:65146532","c.198G>A(exon2)","p.P66P","rs1147096",{"$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",1,150,"同义",13303,"1.0000=162/162",null,2799,"12q14","NM_002076",null,"rs1147096|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"]
["32629A(745)v13410",63,34,0.54,{"$nulls":3},"A有","32629A","GP1BA","chr17:4836973","c.1074A>G(exon2)","p.R358R","rs6067",0.089,0.19,0.2,0.17,0.19,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"巨大血小板综合征/出血性疾病，血小板1型","AR",231200,5,3,4,4,"GP1BA",1,64,"同义",13203,"0.5588=38/68",null,2811,"17pter-p12","NM_000173",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13433",2,2,1,{"$nulls":3},"A有","32629A","GPANK1","chr6:31629022-31629023","c.*1020(exon4)_c.*1021(exon4)insGTCAA","非编码区","rs144234937",0.43,0.34,0.29,0.4,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GPANK1",0.58,34,"非编码区",2420,"1.0000=2/2",null,7918,"6p21.3","NM_001199237",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13463",2,2,1,{"$nulls":3},"A有","32629A","GPLD1","chr6:24427754","c.*1506T>C(exon25)","非编码区","rs74214076",0.11,0.18,0.19,0.17,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"GPLD1",1,150,"非编码区",14200,"1.0000=2/2",null,2822,"6p22.1","NM_001503",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13529",145,145,1,{"$nulls":3},"A有","32629A","GPR128","chr3:100354683","c.597+13G>A(exon5)","非编码区","rs1520652",0.75,0.99,0.99,0.99,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GPR128",1,170,"非编码区",16203,"1.0000=151/151",null,84873,"3q12.2","NM_032787",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13558",56,56,1,{"$nulls":3},"A有","32629A","GPR148","chr2:131487673","c.949A>C(exon1)","p.T317P","rs272128",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GPR148",1,62,"非同义",12220,"1.0000=68/68",null,344561,"2q21.1","NM_207364",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13596",6,2,0.33,{"$nulls":3},"A有","32629A","GPR27","chr3:71804319","c.1119T>C(exon1)","p.I373I","rs201121673",0.0004,0.0024,0.0048,0,0.0055,0.0052,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"GPR27",0.86,6.9,"同义",13103,"0.4286=3/7",null,2850,"3p21-p14","NM_018971",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13644",101,52,0.51,{"$nulls":3},"A有","32629A","GPR98","chr5:89979750","c.6012G>T(exon28)","p.L2004F","rs16868972",0.31,0.41,0.45,0.36,0.35,0.4,"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",605472,5,3,22,2,"GPR98",1,170,"非同义",12210,"0.5000=59/118",null,84059,"5q13","NM_032119",null,"rs16868972|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"]
["32629A(745)v13659",227,227,1,{"$nulls":3},"A有","32629A","GPR98","chr5:90119324","c.16279G>A(exon76)","p.V5427M","rs2438378",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"尤塞氏综合症IIC型","AR",605472,5,1,22,2,"GPR98",1,170,"非同义",12220,"1.0000=264/264",null,84059,"5q13","NM_032119",null,"rs2438378|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13684",44,21,0.48,{"$nulls":3},"A有","32629A","GPRIN2","chr10:46999178","c.298A>C(exon3)","p.T100P","rs7090312",{"$nulls":4},0.38,0.5,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,26,0,"GPRIN2",1,60,"非同义",12320,"0.5000=23/46",null,9721,"10q11.22","NM_014696",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13714",26,26,1,{"$nulls":3},"A有","32629A","GPSM1","chr9:139235526","c.1283C>A(exon9)","p.S428X,30","rs59873903",0.22,0.29,0.34,0.24,0.28,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",26820475,{"$nulls":3},5,null,5,0,"GPSM1",1,47,"截断",15200,"1.0000=26/26",null,26086,"9q34.3","NM_015597","SER428STOP|\"Blood_pressure_systolic_association_with\"|26820475",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13783",18,18,1,{"$nulls":3},"A有","32629A","GRID1","chr10:88126072","c.78C>T(exon1)","p.I26I","rs61856638",0.34,0.52,0.54,0.49,0.39,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"GRID1",1,81,"同义",13202,"1.0000=21/21",null,2894,"10q22","NM_017551",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13807",23,23,1,{"$nulls":3},"A有","32629A","GRIN2C","chr17:72851133","c.99T>C(exon2)","p.A33A","rs689730",null,0.78,0.78,0.78,0.76,0.74,"纯合","未知","预测范围之外的同义突变",23408766,{"$nulls":3},4,null,4,0,"GRIN2C",0.99,39,"同义",13303,"1.0000=26/26",null,2905,"17q25","NM_000835",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13837",39,25,0.64,{"$nulls":3},"A有","32629A","GRM1","chr6:146755324","c.2977T>C(exon9)","p.S993P","rs6923492",0.6,0.52,0.54,0.51,0.48,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24442360;17609672;19737383;25062106","常染色体隐性脊髓小脑性共济失调13型","AR",614831,5,3,7,1,"GRM1",1,94,"非同义",12220,"0.6279=27/43",null,2911,"6q24","NM_000838","rs6923492|\"Autism_spectrum_disorder_increased_risk\"|24442360","rs6923492|Likely benign|NA|NA|no assertion criteria provided|NA;SER993PRO|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13902",28,12,0.43,{"$nulls":3},"A有","32629A","GSTA4","chr6:52843131","c.*137C>A(exon7)","非编码区","rs367836",0.58,0.75,0.73,0.76,0.72,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GSTA4",1,170,"非编码区",14200,"0.4118=14/34",null,2941,"6p12.1","NM_001512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13932",143,62,0.43,{"$nulls":3},"A有","32629A","GTF2E2","chr8:30469805","c.549+11T>G(exon5)","非编码区","rs7815625",0.33,0.26,0.28,0.23,0.26,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"GTF2E2",1,160,"非编码区",16203,"0.4562=73/160",null,2961,"8p12","NM_002095",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v13962",5,5,1,{"$nulls":3},"A有","32629A","GTPBP4","chr10:1063441","c.*274T>G(exon17)","非编码区","rs2387218",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"GTPBP4",1,160,"非编码区",14200,"1.0000=5/5",null,23560,"10p15-p14","NM_012341",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14023",5,2,0.4,{"$nulls":3},"A有","32629A","H2AFJ","chr12:14927994","c.*200T>C(exon1)","非编码区","rs2195199",0.55,0.36,0.33,0.39,0.39,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"H2AFJ",1,120,"非编码区",14200,"0.3333=2/6",null,55766,"12p12.3","NM_177925",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14050",225,99,0.44,{"$nulls":3},"A有","32629A","HADHB","chr2:26477125-26477126","c.3(exon2)_c.4(exon2)insACT","p.M1_T2insT","rs147970487",0.71,0.15,0.19,0.11,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"线粒体三功能蛋白缺乏症（长链）","AR",609015,5,3,4,1,"HADHB",1,180,"起始密码子",2720,"0.4397=113/257",null,3032,"2p23","NM_000183",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14093",139,137,0.99,{"$nulls":3},"A有","32629A","HAVCR1","chr5:156479424","c.621T>G(exon3)","p.T207T","rs1553317",0.91,0.99,1,0.98,0.99,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"IgE反应,遗传性过敏症","AD",147050,5,1,8,1,"HAVCR1",1,130,"同义",13203,"0.9872=154/156",null,26762,"5q33.2","NM_012206",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14134",83,83,1,{"$nulls":3},"A有","32629A","HCFC1","chrX:153227770","c.713-13C>T(exon5)","非编码区","rs59607260",null,0.78,0.77,0.79,0.65,0.77,"纯合","未知","剪切位点预测结果为无害","CLINVAR数据库","精神（智力）发育迟滞3型 ","XR",309541,4,1,6,1,"HCFC1",1,72,"非编码区",16302,"1.0000=89/89",null,3054,"Xq28","NM_005334",null,"rs59607260|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"]
["32629A(745)v14161",85,37,0.44,{"$nulls":3},"A有","32629A","HDAC3","chr5:141014494","c.165A>G(exon3)","p.Q55Q","rs2530223",0.64,0.34,0.34,0.34,0.31,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","20471694;20731616;24120624",{"$nulls":3},5,null,3,0,"HDAC3",1,100,"同义",13203,"0.4176=38/91",null,8841,"5q31","NM_003883",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14184",74,35,0.47,{"$nulls":3},"A有","32629A","HDGFL1","chr6:22570064","c.260C>T(exon1)","p.T87M","rs2076506",0.19,0.42,0.43,0.4,0.38,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"HDGFL1",1,69,"非同义",12210,"0.4578=38/83",null,154150,"6p22.3","NM_138574",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14215",261,119,0.46,{"$nulls":3},"A有","32629A","HEATR1","chr1:236755814","c.1304+9C>T(exon10)","非编码区","rs2794757",0.56,0.71,0.73,0.7,0.71,0.7,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"HEATR1",1,170,"非编码区",16203,"0.4470=135/302",null,55127,"1q43","NM_018072",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14286",43,43,1,{"$nulls":3},"A有","32629A","HELLS","chr10:96305729","c.31+20T>C(exon1)","非编码区","rs10882474",0.56,0.79,0.83,0.74,0.69,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"HELLS",1,230,"非编码区",16203,"1.0000=48/48",null,3070,"10q24.2","NM_018063",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14309",27,27,1,{"$nulls":3},"A有","32629A","HELZ2","chr20:62198348","c.2363G>A(exon7)","p.S788N","rs438363",0.94,1,1,1,0.81,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,27,0,"HELZ2",1,26,"非同义",12220,"1.0000=30/30",{"$nulls":3},"NM_001037335",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14338",207,95,0.46,{"$nulls":3},"A有","32629A","HERC1","chr15:63953153","c.9223+19T>C(exon46)","非编码区","rs2272209",0.64,0.11,0.1,0.12,0.11,0.084,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"HERC1",1,130,"非编码区",16203,"0.4542=109/240",null,8925,"15q22","NM_003922",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14387",184,184,1,{"$nulls":3},"A有","32629A","HGD","chr3:120389316","c.240A>T(exon4)","p.Q80H","rs2255543",0.73,0.63,0.63,0.63,0.65,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"黑尿酸症","AR",203500,5,1,1,1,"HGD",1,140,"非同义",12220,"1.0000=206/206",null,3081,"3q13.33","NM_000187",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14417",168,94,0.56,{"$nulls":3},"A有","32629A","HHLA1","chr8:133107830","c.384A>G(exon6)","p.V128V","rs7833441",0.87,0.79,0.8,0.78,0.76,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"HHLA1",1,150,"同义",13203,"0.5745=108/188",null,10086,"8q24","NM_001145095",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14447",35,24,0.69,{"$nulls":3},"A有","32629A","HINFP","chr11:119005132","c.1478C>T(exon11)","p.A493V","rs100803",0.4,0.75,0.72,0.77,0.74,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"HINFP",1,72,"非同义",12220,"0.7027=26/37",null,25988,"11q23.3","NM_015517",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14514",31,31,1,{"$nulls":3},"A有","32629A","HIVEP3","chr1:41976328","c.7015A>G(exon9)","p.T2339A","rs9439043",0.96,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"HIVEP3",1,59,"非同义",12220,"1.0000=34/34",null,59269,"1p34","NM_024503",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14538",130,61,0.47,{"$nulls":3},"A有","32629A","HK2","chr2:75113657","c.2076C>T(exon15)","p.N692N","rs2229626",0.51,0.39,0.42,0.37,0.41,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"HK2",1,96,"同义",13203,"0.4783=66/138",null,3099,"2p13","NM_000189",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14568",189,187,0.99,{"$nulls":3},"A有","32629A","HMCN1","chr1:186101539","c.13310A>G(exon86)","p.Q4437R","rs10911825",0.48,0.61,0.58,0.64,0.63,0.63,"纯合","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,603075,5,1,9,1,"HMCN1",1,180,"非同义",12210,"0.9903=205/207",null,83872,"1q25.3-q31.1","NM_031935",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14609",27,17,0.63,{"$nulls":3},"A有","32629A","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","年轻起病成人型糖尿病3型","AD",600496,5,1,7,6,"HNF1A",1,66,"非同义",12220,"0.6667=20/30",null,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",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14627",54,29,0.54,{"$nulls":3},"A有","32629A","HNRNPCL1","chr1:12907351","c.792T>C(exon2)","p.D264D","rs2359485",{"$nulls":4},0.45,0.16,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,37,0,"HNRNPCL1",1,150,"同义",13303,"0.5536=31/56",null,343069,"1p36.21","NM_001013631",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14653",151,47,0.31,{"$nulls":3},"A有","32629A","HNRNPCL1","chr1:12907803","c.340G>A(exon2)","p.G114S","rs141460546",{"$nulls":4},0.39,0.47,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,37,0,"HNRNPCL1",1,150,"非同义",12320,"0.3030=50/165",null,343069,"1p36.21","NM_001013631",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14683",7,7,1,{"$nulls":3},"A有","32629A","HOXA4","chr7:27168512","c.*332G>C(exon2)","非编码区","rs4722661",0.96,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"HOXA4",1,56,"非编码区",14200,"1.0000=8/8",null,3201,"7p15.2","NM_002141",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14755",230,230,1,{"$nulls":3},"A有","32629A","HPSE","chr4:84230619","c.920A>G(exon8)","p.K307R","rs11099592",0.81,0.88,0.87,0.89,0.87,0.87,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17611567;19406828;20578081;22276173;24954766",{"$nulls":3},5,null,2,0,"HPSE",1,150,"非同义",12220,"1.0000=264/264",null,10855,"4q21.3","NM_006665",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14766",12,5,0.42,{"$nulls":3},"A有","32629A","HRH3","chr20:60791404","c.996G>A(exon3)","p.S332S","rs3787429",0.49,0.37,0.33,0.41,0.3,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24835231,{"$nulls":3},5,null,1,0,"HRH3",1,33,"同义",13203,"0.4615=6/13",null,11255,"20q13.33","NM_007232",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14796",237,105,0.44,{"$nulls":3},"A有","32629A","HRNR","chr1:152193121","c.984C>A(exon3)","p.G328G","rs6587651",0.55,0.38,0.36,0.4,0.4,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,36,0,"HRNR",1,360,"同义",13203,"0.4576=124/271",null,388697,"1q21.3","NM_001009931",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14866",79,44,0.56,{"$nulls":3},"A有","32629A","HSP90AA1","chr14:102549873","c.1852+10C>T(exon9)","非编码区","rs7156529",0.11,0.16,0.17,0.15,0.16,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"HSP90AA1",1,99,"非编码区",16203,"0.5435=50/92",null,3320,"14q32.33","NM_001017963",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14892",44,17,0.39,{"$nulls":3},"A有","32629A","HSPA6","chr1:161495117","c.669C>T(exon1)","p.A223A","rs41297716",0.017,0.0048,0.0095,0,0.01,0.016,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"HSPA6",1,55,"同义",13103,"0.4038=21/52",null,3310,"1q23","NM_002155",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14914",40,40,1,{"$nulls":3},"A有","32629A","HSPG2","chr1:22191454","c.4508C>T(exon36)","p.A1503V","rs897471",0.69,0.89,0.88,0.91,0.89,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Schwartz-Jampel综合征1（软骨营养障碍性肌强直）","AR",255800,5,1,15,2,"HSPG2",1,59,"非同义",12210,"1.0000=46/46",null,3339,"1p36.1-p34","NM_005529",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14959",69,38,0.55,{"$nulls":3},"A有","32629A","HTR5A","chr7:154862591","c.-19G>C(exon1)","非编码区","rs1800883",0.45,0.51,0.54,0.47,0.48,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17203304;19328558",{"$nulls":3},5,null,6,0,"HTR5A",1,67,"非编码区",14200,"0.5405=40/74",null,3361,"7q36.1","NM_024012","rs1800883|\"Autism_association_with\"|17203304",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v14988",51,23,0.45,{"$nulls":3},"A有","32629A","HYAL4","chr7:123509196-123509196","c.869(exon3)delC","p.T290Tfs*2","rs767912542",{"$nulls":5},0.00081,"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,1,0,"HYAL4",1,130,"移码",2130,"0.4310=25/58",null,23553,"7q31.3","NM_012269",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15018",176,42,0.24,{"$nulls":3},"A有","32629A","HYDIN","chr16:70934974","c.8981A>G(exon53)","p.E2994G","rs12102425",{"$nulls":4},0.1,0.095,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"原发性纤毛运动障碍5型","AR",608647,2,3,88,1,"HYDIN",1,290,"非同义",12310,"0.2289=46/201",null,54768,"16q22.2","NM_001270974",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["32629A(745)v15044",531,254,0.48,{"$nulls":3},"A有","32629A","HYDIN","chr16:71015290","c.4510+4G>C(exon29)","非编码区","rs2669067",{"$nulls":4},0.5,null,"杂合","未知","剪切位点预测结果为无害",null,"原发性纤毛运动障碍5型","AR",608647,4,3,88,1,"HYDIN",1,290,"非编码区",16302,"0.4789=307/641",null,54768,"16q22.2","NM_001270974",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15107",57,57,1,{"$nulls":3},"A有","32629A","IDO2","chr8:39872866","c.1008A>C(exon11)","p.S336S","rs2981161",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"IDO2",1,130,"同义",13203,"1.0000=63/63",null,169355,"8p11.21","NM_194294",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v15366",51,51,1,{"$nulls":3},"A有","32629A","IKBKE","chr1:206647787","c.201T>C(exon4)","p.I67I","rs1539243",0.9,0.99,1,0.99,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19786281,{"$nulls":3},5,null,5,0,"IKBKE",1,66,"同义",13203,"1.0000=52/52",null,9641,"1q32.1","NM_014002",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15394",3,3,1,{"$nulls":3},"A有","32629A","IL17D","chr13:21296214","c.*121G>C(exon3)","非编码区","rs4770068",0.4,0.75,0.8,0.7,0.78,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"IL17D",0.8,13,"非编码区",14200,"1.0000=4/4",null,53342,"13q11","NM_138284",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15444",52,26,0.5,{"$nulls":3},"A有","32629A","IL27RA","chr19:14150303","c.219-17C>T(exon3)","非编码区","rs75852614",0.11,0.14,0.13,0.16,0.13,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"IL27RA",1,80,"非编码区",16202,"0.5000=28/56",null,9466,"19p13.11","NM_004843",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v15500",39,15,0.38,{"$nulls":3},"A有","32629A","IMPA1","chr8:82571434","c.*152G>T(exon10)","非编码区","rs2955014",0.19,0.57,0.6,0.55,0.54,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"IMPA1",1,180,"非编码区",14200,"0.3810=16/42",null,3612,"8q21.13-q21.3","NM_001144878",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15523",17,17,1,{"$nulls":3},"A有","32629A","INF2","chr14:105167807","c.105C>T(exon2)","p.P35P","rs4983530",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"局灶性节段性肾小球硬化症5型",null,613237,5,1,6,2,"INF2",1,42,"同义",13203,"1.0000=21/21",null,64423,"14q32.33","NM_022489",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15577",82,45,0.55,{"$nulls":3},"A有","32629A","INPP5F","chr10:121586882","c.2989A>G(exon20)","p.N997D","rs3188055",0.27,0.18,0.22,0.15,0.22,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"INPP5F",0.98,180,"非同义",12220,"0.5730=51/89",null,22876,"10q26.11","NM_014937",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v15623",51,51,1,{"$nulls":3},"A有","32629A","IPO4","chr14:24654489","c.1308A>G(exon14)","p.V436V","rs2025258",0.46,0.79,0.8,0.78,0.81,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"IPO4",1,71,"同义",13203,"1.0000=60/60",null,79711,"14q12","NM_024658",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15694",65,32,0.49,{"$nulls":3},"A有","32629A","IRAK2","chr3:10264480","c.1174C>G(exon9)","p.L392V","rs3844283",0.29,0.14,0.11,0.18,0.16,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24550035,{"$nulls":3},5,null,3,0,"IRAK2",1,71,"非同义",12220,"0.5068=37/73",null,3656,"3p25.3","NM_001570",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15714",29,13,0.45,{"$nulls":3},"A有","32629A","IRF7","chr11:614864","c.366G>A(exon2)","p.R122R","rs1061501",0.82,0.72,0.73,0.71,0.7,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"IRF7",1,44,"同义",13203,"0.4571=16/35",null,3665,"11p15.5","NM_004031",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15742",12,12,1,{"$nulls":3},"A有","32629A","ISCU","chr12:108956433","c.35C>T(exon1)","p.A12V","rs2287555",0.51,0.53,0.52,0.55,0.62,0.57,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性肌病伴乳酸酸中毒","AR",255125,5,1,4,1,"ISCU",1,130,"非同义",12220,"1.0000=14/14",null,23479,"12q24.1","NM_213595",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15802",105,105,1,{"$nulls":3},"A有","32629A","ITGA4","chr2:182374534","c.1845A>G(exon16)","p.T615T","rs1143674",0.66,0.63,0.59,0.67,0.64,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18846500;25147926",{"$nulls":3},5,null,4,0,"ITGA4",1,200,"同义",13202,"1.0000=115/115",null,3676,"2q31.3","NM_000885",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15828",31,31,1,{"$nulls":3},"A有","32629A","ITGAM","chr16:31342608","c.3390+12T>C(exon29)","非编码区","rs7188189",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,"系统性红斑狼疮,易感6型,ITGAM突变型",null,609939,5,1,6,1,"ITGAM",1,93,"非编码区",16203,"1.0000=34/34",null,3684,"16p11.2","NM_001145808",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15850",37,23,0.62,{"$nulls":3},"A有","32629A","ITGB3","chr17:45385012","c.2301+9C>T(exon14)","非编码区","rs3809863",0.4,0.28,0.26,0.3,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17827388,"血小板型出血性疾病16型","AD",187800,5,1,5,3,"ITGB3",1,89,"非编码区",16203,"0.6216=23/37",null,3690,"17q21.32","NM_000212",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15905",29,29,1,{"$nulls":3},"A有","32629A","ITPKB","chr1:226923505","c.1655C>A(exon2)","p.P552Q","rs708776",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ITPKB",1,46,"非同义",12220,"1.0000=33/33",null,3707,"1q42.13","NM_002221",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15930",99,99,1,{"$nulls":3},"A有","32629A","ITPRIPL1","chr2:96991492","c.-86A>G(exon2)","非编码区","rs772174",0.81,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ITPRIPL1",1,58,"非编码区",14200,"1.0000=102/102",null,150771,"2q11.2","NM_001008949",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15956",85,41,0.48,{"$nulls":3},"A有","32629A","JAK1","chr1:65321250","c.1590C>T(exon11)","p.I530I","rs2230586",0.039,0.014,0.014,0.015,0.012,0.0094,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"JAK1",1,120,"同义",13103,"0.4681=44/94",null,3716,"1p32.3-p31.3","NM_002227",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v15977",4,2,0.5,{"$nulls":3},"A有","32629A","JAM3","chr11:134019361","c.*285G>A(exon9)","非编码区","rs597320",0.48,0.45,0.42,0.49,0.42,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19384415,"大脑出血性损伤、脑室室管膜下钙化和白内障","AR",613730,5,3,2,1,"JAM3",1,120,"非编码区",14200,"0.5000=2/4",null,83700,"11q25","NM_032801",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16049",19,19,1,{"$nulls":3},"A有","32629A","KANK3","chr19:8398950-8398961","c.1467(exon5)_c.1478(exon5)delTGGCGACAGCGA","p.D489_E493delinsE","rs111751275",0.35,0.3,0.3,0.31,0,0.32,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KANK3",0.99,16,"非移码",2221,"1.0000=20/20",null,256949,"19p13.2","NM_198471",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16074",37,37,1,{"$nulls":3},"A有","32629A","KAT8","chr16:31142381","c.*68A>G(exon10)","非编码区","rs2855479",0.98,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"KAT8",1,59,"非编码区",14200,"1.0000=40/40",null,84148,"16p11.2","NM_182958",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16104",3,2,0.67,{"$nulls":3},"A有","32629A","KBTBD7","chr13:41768690","c.-297C>G(exon1)","非编码区","rs9525462",0.5,0.38,0.39,0.38,0.25,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"KBTBD7",1,110,"非编码区",14200,"0.7500=3/4",null,84078,"13q14.11","NM_032138",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16166",80,15,0.19,{"$nulls":3},"A有","32629A","KCNJ12","chr17:21318698","c.44C>T(exon3)","p.S15L","rs1657738",{"$nulls":4},0.47,0.5,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,60,0,"KCNJ12",1,110,"非同义",12320,"0.1889=17/90",null,3768,"17p11.2","NM_021012",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16192",138,68,0.49,{"$nulls":3},"A有","32629A","KCNJ12","chr17:21319473","c.819G>A(exon3)","p.E273E","rs1657744",{"$nulls":4},0.48,0.5,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,60,0,"KCNJ12",1,110,"同义",13303,"0.5163=79/153",null,3768,"17p11.2","NM_021012",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16222",2,2,1,{"$nulls":3},"A有","32629A","KCNJ12","chr17:21321250","c.*1294G>A(exon3)","非编码区","rs62049523",{"$nulls":4},0.5,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,60,0,"KCNJ12",1,110,"非编码区",14300,"1.0000=2/2",null,3768,"17p11.2","NM_021012",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16248",82,34,0.41,{"$nulls":3},"A有","32629A","KCNK16","chr6:39282748","c.*152C>T(exon5)","非编码区","rs11756070",0.58,0.44,0.45,0.43,0.45,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"KCNK16",1,81,"非编码区",14200,"0.4270=38/89",null,83795,"6p21.2-p21.1","NM_001135105",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16305",87,54,0.62,{"$nulls":3},"A有","32629A","KCP","chr7:128532980","c.1189A>G(exon12)","p.K397E","rs7782976",0.39,0.59,0.59,0.59,0.54,0.58,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"KCP",1,55,"非同义",12220,"0.6364=63/99",null,375616,"7q32.1","NM_001135914",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16335",21,21,1,{"$nulls":3},"A有","32629A","KDELR3","chr22:38878758","c.*217C>A(exon5)","非编码区","rs138436",0.94,0.91,0.88,0.95,0.92,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KDELR3",1,100,"非编码区",14200,"1.0000=22/22",null,11015,"22q13.1","NM_006855",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16361",13,5,0.38,{"$nulls":3},"A有","32629A","KDM4C","chr9:7174898","c.*169C>A(exon22)","非编码区","rs913590",0.55,0.66,0.66,0.66,0.65,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"KDM4C",1,160,"非编码区",14200,"0.3846=5/13",null,23081,"9p24.1","NM_015061",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16431",66,38,0.58,{"$nulls":3},"A有","32629A","KIAA0247","chr14:70171418","c.417T>C(exon4)","p.F139F","rs2275124",0.059,0.13,0.12,0.13,0.14,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"KIAA0247",1,90,"同义",13203,"0.6267=47/75",null,9766,"14q24.1","NM_014734",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16461",72,34,0.47,{"$nulls":3},"A有","32629A","KIAA0556","chr16:27751497","c.1879G>A(exon15)","p.E627K","rs186875199",0.0026,0.022,0.019,0.024,0.017,0.0092,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"KIAA0556",1,91,"非同义",12120,"0.4557=36/79",null,23247,"16p12.1","NM_015202",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16488",68,34,0.5,{"$nulls":3},"A有","32629A","KIAA0895","chr7:36374799","c.829-12C>T(exon3)","非编码区","rs3779230",0.1,0.17,0.2,0.14,0.14,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"KIAA0895",0.92,110,"非编码区",16202,"0.4861=35/72",null,23366,"7p14.2","NM_001199707",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16558",87,87,1,{"$nulls":3},"A有","32629A","KIAA1324","chr1:109737090","c.1995G>A(exon15)","p.P665P","rs2359245",0.72,0.97,0.96,0.98,0.96,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17903293,{"$nulls":3},5,null,10,0,"KIAA1324",1,86,"同义",13203,"1.0000=93/93",null,57535,"1p13.3","NM_020775",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16588",69,69,1,{"$nulls":3},"A有","32629A","KIAA1456","chr8:12878807","c.619T>G(exon5)","p.C207G","rs3739310",0.65,0.77,0.79,0.75,0.76,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"KIAA1456",1,120,"非同义",12220,"1.0000=78/78",null,57604,"8p22","NM_020844",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16629",51,51,1,{"$nulls":3},"A有","32629A","KIAA1609","chr16:84520396","c.799T>C(exon5)","p.C267R","rs422145",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"KIAA1609",1,76,"非同义",12220,"1.0000=58/58",null,57707,"16q24.1","NM_020947",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16684",38,38,1,{"$nulls":3},"A有","32629A","KIAA1755","chr20:36841756","c.3291A>G(exon14)","p.S1097S","rs1534967",0.39,0.48,0.5,0.46,0.49,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"KIAA1755",1,76,"同义",13203,"1.0000=47/47",null,85449,"20q11.23","NM_001029864",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16710",15,15,1,{"$nulls":3},"A有","32629A","KIAA2026","chr9:5923326","c.2687-17G>A(exon8)","非编码区","rs7045445",0.51,0.5,0.49,0.51,0.46,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"KIAA2026",1,120,"非编码区",16202,"1.0000=16/16",null,158358,"9p24.1","NM_001017969",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16740",10,5,0.5,{"$nulls":3},"A有","32629A","KIF16B","chr20:16554067","c.-147T>C(exon1)","非编码区","rs4814510",0.82,0.79,0.82,0.76,null,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"KIF16B",0.85,120,"非编码区",14200,"0.5000=5/10",null,55614,"20p11.23","NM_024704",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16759",103,103,1,{"$nulls":3},"A有","32629A","KIF1B","chr1:10355834","c.1639+10C>T(exon17)","非编码区","rs3753037",0.26,0.33,0.37,0.29,0.28,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"噬铬细胞瘤","AD",171300,5,1,5,3,"KIF1B",1,140,"非编码区",16203,"1.0000=124/124",null,23095,"1p36.2","NM_015074",null,"rs3753037|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16820",16,16,1,{"$nulls":3},"A有","32629A","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,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","Hydrolethalus综合症2型","AR",614120,5,1,5,2,"KIF7",0.99,38,"非编码区",16202,"1.0000=22/22",null,374654,"15q26.1","NM_198525",null,"rs74251725|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"]
["32629A(745)v16846",294,148,0.5,{"$nulls":3},"A有","32629A","KIR2DL4","chr19:55317669","c.625C>G(exon4)","p.P209A","rs1051456",0.53,0.75,0.72,0.78,0.49,0.83,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24136464,{"$nulls":3},5,null,7,0,"KIR2DL4",1,420,"非同义",12210,"0.5029=174/346",null,3805,"19q13.4","NM_002255",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16876",494,247,0.5,{"$nulls":3},"A有","32629A","KIR3DL3","chr19:55246739","c.969C>T(exon6)","p.H323H","rs78691806",0.15,0.41,0.42,0.39,0.37,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"KIR3DL3",1,390,"同义",13203,"0.4966=290/584",null,100133046,"-","NM_153443",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16938",23,11,0.48,{"$nulls":3},"A有","32629A","KLHL14","chr18:30349691","c.864G>A(exon2)","p.P288P","rs17851892",0.33,0.39,0.44,0.34,0.39,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"KLHL14",1,91,"同义",13203,"0.5185=14/27",null,57565,"18q12.1","NM_020805",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16968",65,65,1,{"$nulls":3},"A有","32629A","KLHL30","chr2:239051550","c.885T>C(exon3)","p.F295F","rs935411",0.93,0.93,0.96,0.89,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"KLHL30",1,39,"同义",13203,"1.0000=71/71",null,377007,"2q37.3","NM_198582",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v16995",3,3,1,{"$nulls":3},"A有","32629A","KLHL6","chr3:183209201","c.*514T>G(exon7)","非编码区","rs5025438",1,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"KLHL6",1,90,"非编码区",14200,"1.0000=3/3",null,89857,"3q27.3","NM_130446",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17063",141,141,1,{"$nulls":3},"A有","32629A","KLRC4-KLRK1","chr12:10532326","c.214A>G(exon9)","p.T72A","rs2255336",0.76,0.83,0.81,0.84,0.81,0.76,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19735685;20648603;21598106;25203601",{"$nulls":3},5,null,4,0,"KLRC4-KLRK1",1,130,"非同义",12220,"1.0000=153/153",null,100528032,"12p","NM_001199805","rs2255336|\"Systemic_lupus_erythematosus_association_with\"|19735685",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17098",7,7,1,{"$nulls":3},"A有","32629A","KPNA3","chr13:50366680-50366681","c.-39(exon1)_c.-38(exon1)insCGC","非编码区","rs377544239",{"$nulls":4},0.12,0.51,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"KPNA3",1,160,"非编码区",2430,"1.0000=8/8",null,3839,"13q14.3","NM_002267",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v17108",5,5,1,{"$nulls":3},"A有","32629A","KRAS","chr12:25359465-25359465","c.*3385(exon6)delT","非编码区","rs34176876",0.55,0.78,0.79,0.76,0,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"cardiofaciocutaneous综合征2型","AD",615278,5,1,5,9,"KRAS",1,140,"非编码区",2420,"1.0000=5/5",null,3845,"12p12.1","NM_033360",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17129",6,5,0.83,{"$nulls":3},"A有","32629A","KRR1","chr12:75892164-75892165","c.*1424(exon10)_c.*1425(exon10)insTATT","非编码区","rs397695996",0.31,0.45,0.43,0.48,0.16,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KRR1",1,160,"非编码区",2420,"0.8571=6/7",null,11103,"12q21.2","NM_007043",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17146",84,84,1,{"$nulls":3},"A有","32629A","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","网状色素性皮病","AD",125595,5,1,5,6,"KRT14",1,100,"同义",13203,"1.0000=93/93",null,3861,"17q12-q21","NM_000526",null,"rs11551758|not provided|NA|NA|no assertion provided|NA",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17159",31,8,0.26,{"$nulls":3},"A有","32629A","KRT18","chr12:53343059","c.102C>A(exon1)","p.S34R","rs78343594",{"$nulls":4},0.26,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"家族性肝硬化病","AR",215600,2,3,14,1,"KRT18",1,61,"非同义",12310,"0.2581=8/31",null,3875,"12q13","NM_000224",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","疑似阳性"]
["32629A(745)v17191",70,33,0.47,{"$nulls":3},"A有","32629A","KRT27","chr17:38938316","c.430G>A(exon1)","p.E144K","rs12453124",0.15,0.18,0.16,0.2,0.21,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"KRT27",1,140,"非同义",12210,"0.4583=33/72",null,342574,"17q21.2","NM_181537",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17251",97,97,1,{"$nulls":3},"A有","32629A","KRT5","chr12:52912909","c.591C>A(exon2)","p.D197E","rs641615",0.22,0.33,0.31,0.35,0.33,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",19578363,"全身性单纯性大疱性表皮松解症","AD",131900,5,1,2,7,"KRT5",1,120,"非同义",12220,"1.0000=109/109",null,3852,"12q13.13","NM_000424","ASP197GLU|\"Basal_cell_carcinoma_reduced_risk_association_with\"|19578363","ASP197GLU|not provided|NA|NA|no assertion provided|NA",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17277",77,77,1,{"$nulls":3},"A有","32629A","KRT6C","chr12:52862783","c.*63C>T(exon9)","非编码区","rs2568",0.25,0.5,0.48,0.51,0.47,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",615735,5,1,16,1,"KRT6C",1,130,"非编码区",14200,"1.0000=93/93",null,286887,"12q13.13","NM_173086",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17300",109,63,0.58,{"$nulls":3},"A有","32629A","KRT73","chr12:53010032","c.580C>G(exon2)","p.L194V","rs201634401",0.0008,0.0048,0.0048,0.0049,0.0024,0.0016,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"KRT73",1,110,"非同义",12110,"0.5349=69/129",null,319101,"12q13.3","NM_175068",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17366",14,8,0.57,{"$nulls":3},"A有","32629A","KRT84","chr12:52777580","c.549T>G(exon2)","p.V183V","rs1613929",0.33,0.23,0.24,0.22,0.18,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"KRT84",1,86,"同义",13202,"0.5000=8/16",null,3890,"12q13","NM_033045",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17394",115,58,0.5,{"$nulls":3},"A有","32629A","KRTAP10-11","chr21:46066764","c.389C>T(exon1)","p.S130F","rs4818952",0.78,0.67,0.7,0.65,0.66,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"KRTAP10-11",1,120,"非同义",12210,"0.5078=65/128",null,386678,"21q22.3","NM_198692",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17428",66,37,0.56,{"$nulls":3},"A有","32629A","KRTAP10-7","chr21:46021088","c.567C>T(exon1)","p.S189S","rs388827",{"$nulls":4},0.5,0.58,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,13,0,"KRTAP10-7",1,100,"同义",13303,"0.5733=43/75",null,386675,"21q22.3","NM_198689",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17505",118,59,0.5,{"$nulls":3},"A有","32629A","KRTAP4-7","chr17:39240504","c.46A>G(exon1)","p.S16G","rs11655310",0.62,0.38,0.37,0.4,0.43,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KRTAP4-7",1,140,"非同义",12220,"0.4962=65/131",null,100132476,"17q21.2","NM_033061",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17535",7,3,0.43,{"$nulls":3},"A有","32629A","KRTAP5-5","chr11:1652103","c.*319G>C(exon1)","非编码区","rs10838014",0.25,0.12,0.13,0.12,0.12,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"KRTAP5-5",1,180,"非编码区",14200,"0.4286=3/7",null,439915,"11p15.5","NM_001001480",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17563",260,80,0.31,{"$nulls":3},"A有","32629A","KRTAP9-4","chr17:39406419","c.447T>C(exon1)","p.C149C","rs151209798",{"$nulls":4},0.15,0.2,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,14,0,"KRTAP9-4",1,260,"同义",13303,"0.3165=94/297",null,85280,"17q12-q21","NM_033191",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17615",115,115,1,{"$nulls":3},"A有","32629A","LACTB","chr15:63433766","c.1406G>A(exon6)","p.R469K","rs2729835",0.71,0.99,0.99,0.98,0.98,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18538381,{"$nulls":3},5,null,4,0,"LACTB",1,130,"非同义",12220,"1.0000=128/128",null,114294,"15q22.1","NM_032857",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17657",119,119,1,{"$nulls":3},"A有","32629A","LAMA4","chr6:112435912","c.5160T>A(exon37)","p.V1720V","rs1050353",0.28,0.37,0.37,0.37,0.36,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;24887437","1JJ型扩张型性心肌病","AD",615235,5,1,12,1,"LAMA4",1,150,"同义",13203,"1.0000=132/132",null,3910,"6q21","NM_001105206",null,"rs1050353|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"]
["32629A(745)v17683",38,12,0.32,{"$nulls":3},"A有","32629A","LAMA5","chr20:60909060","c.2775T>C(exon23)","p.P925P","rs13038331",0.76,0.94,0.95,0.94,0.8,0.95,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,27,0,"LAMA5",1,43,"同义",13203,"0.3571=15/42",null,3911,"20q13.2-q13.3","NM_005560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17705",50,20,0.4,{"$nulls":3},"A有","32629A","LAMB3","chr1:209799205","c.1764T>C(exon13)","p.Y588Y","rs2229465",0.094,0.27,0.27,0.28,0.29,0.29,"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",226650,5,3,15,2,"LAMB3",1,71,"同义",13203,"0.4038=21/52",null,3914,"1q32","NM_001017402",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v17880",204,204,1,{"$nulls":3},"A有","32629A","LDHC","chr11:18467821","c.775T>C(exon7)","p.L259L","rs2658565",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LDHC",1,210,"同义",13203,"1.0000=229/229",null,3948,"11p15.1","NM_002301",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17910",36,13,0.36,{"$nulls":3},"A有","32629A","LEMD2","chr6:33740382","c.*23C>T(exon9)","非编码区","rs2296744",0.49,0.77,0.76,0.79,0.78,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"LEMD2",1,50,"非编码区",14200,"0.3659=15/41",null,221496,"6p21.31","NM_181336",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v17930",75,75,1,{"$nulls":3},"A有","32629A","LEPREL4","chr17:39959189","c.*20G>C(exon8)","非编码区","rs1065029",0.91,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LEPREL4",1,53,"非编码区",14200,"1.0000=85/85",null,10609,"17q21.2","NM_006455",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18005",11,11,1,{"$nulls":3},"A有","32629A","LIG1","chr19:48618711","c.*195T>C(exon28)","非编码区","rs251692",0.72,0.86,0.9,0.83,0.87,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"LIG1",1,76,"非编码区",14200,"1.0000=11/11",null,3978,"19q13.2-q13.3","NM_000234",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18033",215,175,0.81,{"$nulls":3},"A有","32629A","LILRA6","chr19:54746051","c.206T>G(exon3)","p.L69W","rs620207",{"$nulls":4},0.52,0.54,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,15,0,"LILRA6",1,210,"非同义",12320,"0.8115=198/244",null,79168,"19q13.4","NM_024318",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18059",11,8,0.73,{"$nulls":3},"A有","32629A","LILRB4","chr19:55174213","c.-273C>T(exon1)","非编码区","rs1654668",0.45,0.46,0.43,0.48,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"LILRB4",1,190,"非编码区",14200,"0.7273=8/11",null,11006,"19q13.4","NM_006847",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18089",136,136,1,{"$nulls":3},"A有","32629A","LIN9","chr1:226474132","c.474C>T(exon6)","p.F158F","rs10799347",0.71,0.74,0.75,0.74,0.74,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LIN9",1,190,"同义",13203,"1.0000=155/155",null,286826,"1q42.12","NM_173083",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18128",169,90,0.53,{"$nulls":3},"A有","32629A","LIPK","chr10:90490921","c.405G>A(exon3)","p.P135P","rs412227",0.26,0.35,0.31,0.39,0.37,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"LIPK",1,180,"同义",13203,"0.5288=101/191",null,643414,"10q23.31","NM_001080518",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18175",3,3,1,{"$nulls":3},"A有","32629A","LMOD1","chr1:201915658","c.-190T>G(exon1)","非编码区","rs2819371",0.92,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LMOD1",1,68,"非编码区",14200,"1.0000=3/3",null,25802,"1q32","NM_012134",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18321",88,33,0.38,{"$nulls":3},"A有","32629A","LOC100996575","chr1:144598641","c.104C>T(exon3)","p.T35M","rs1698687",{"$nulls":4},0.48,null,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,16,0,"LOC100996575",1,180,"非同义",12330,"0.4100=41/100",null,100996575,"-","XM_003846383",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18488",151,85,0.56,{"$nulls":3},"A有","32629A","LONRF2","chr2:100916315","c.1131T>C(exon5)","p.G377G","rs11123823",0.29,0.49,0.5,0.48,0.51,0.52,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24968232,{"$nulls":3},5,null,8,0,"LONRF2",0.83,99,"同义",13203,"0.5689=95/167",null,164832,"2q11.2","NM_198461",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18517",3,3,1,{"$nulls":3},"A有","32629A","LPAR4","chrX:78011737","c.*258T>C(exon2)","非编码区","rs1140040",null,0.99,1,0.99,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"LPAR4",1,96,"非编码区",14300,"1.0000=3/3",null,2846,"Xq21.1","NM_005296",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18543",108,44,0.41,{"$nulls":3},"A有","32629A","LPPR4","chr1:99753631","c.333G>A(exon2)","p.P111P","rs35121076",0.075,0.12,0.12,0.12,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LPPR4",1,100,"同义",13203,"0.4454=53/119",null,9890,"1p21.2","NM_014839",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18596",25,25,1,{"$nulls":3},"A有","32629A","LRP11","chr6:150141532-150141533","c.*152(exon7)_c.*153(exon7)insA","非编码区","rs58791549",null,0.83,0.85,0.82,0.68,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,3,0,"LRP11",0.77,51,"非编码区",2430,"1.0000=27/27",null,84918,"6q25.1","NM_032832",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v18642",124,71,0.57,{"$nulls":3},"A有","32629A","LRP4","chr11:46890197","c.4905C>T(exon33)","p.F1635F","rs2290883",0.22,0.58,0.65,0.51,0.58,0.62,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Cenani-Lenz合指综合征","AR",212780,5,3,6,2,"LRP4",1,86,"同义",13203,"0.5736=74/129",null,4038,"11p11.2","NM_002334",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v18733",20,8,0.4,{"$nulls":3},"A有","32629A","LRRC61","chr7:150034184","c.234T>C(exon3)","p.A78A","rs3735170",0.26,0.27,0.29,0.26,0.26,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"LRRC61",1,31,"同义",13203,"0.3913=9/23",null,65999,"7q31-q35","NM_001142928",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v18790",40,40,1,{"$nulls":3},"A有","32629A","LRRTM1","chr2:80529956","c.989A>G(exon2)","p.N330S","rs6733871",0.37,0.53,0.51,0.55,0.45,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"LRRTM1",1,70,"非同义",12220,"1.0000=43/43",null,347730,"2p12","NM_178839",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18855",28,28,1,{"$nulls":3},"A有","32629A","LURAP1L","chr9:12775861-12775862","c.147(exon1)_c.148(exon1)insGGCGGCGGC","p.G49_G50insGGG","rs139315731",{"$nulls":4},0.098,0.72,"纯合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"LURAP1L",1,68,"非移码",2231,"1.0000=29/29",null,286343,"9p23","NM_203403",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v18879",149,149,1,{"$nulls":3},"A有","32629A","LY75","chr2:160676427","c.3963G>T(exon29)","p.K1321N","rs12692566",0.85,0.89,0.9,0.88,0.88,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"LY75",1,240,"非同义",12220,"1.0000=174/174",null,4065,"2q24","NM_002349",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18902",34,18,0.53,{"$nulls":3},"A有","32629A","LYPD3","chr19:43969757","c.-34T>C(exon1)","非编码区","rs2259013",0.52,0.36,0.34,0.37,0.35,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"LYPD3",1,63,"非编码区",14200,"0.5405=20/37",null,27076,"19q13.31","NM_014400",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18968",47,47,1,{"$nulls":3},"A有","32629A","MAF1","chr8:145161823","c.706G>A(exon7)","p.G236R","rs11546144",0.88,1,1,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MAF1",1,62,"非同义",12220,"1.0000=51/51",null,84232,"8q24.3","NM_032272",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v18995",155,155,1,{"$nulls":3},"A有","32629A","MAGEA5","chrX:151283336","c.*302A>G(exon3)","非编码区","rs3565",null,0.93,0.92,0.94,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"MAGEA5",1,130,"非编码区",14300,"1.0000=172/172",null,4104,"Xq28","NM_021049",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19025",66,30,0.45,{"$nulls":3},"A有","32629A","MAGEC3","chrX:140966946","c.259-15T>C(exon3)","非编码区","rs73577990",null,0.37,0.39,0.35,null,0.42,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,7,0,"MAGEC3",1,140,"非编码区",16302,"0.4595=34/74",null,139081,"Xq27.2","NM_138702",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19096",34,19,0.56,{"$nulls":3},"A有","32629A","MAN2C1","chr15:75649115","c.2708+19A>G(exon22)","非编码区","rs117058294",0.024,0.11,0.086,0.14,0.11,0.1,"杂合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"MAN2C1",1,63,"非编码区",16103,"0.5556=20/36",null,4123,"15q11-q13","NM_001256494",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19126",113,60,0.53,{"$nulls":3},"A有","32629A","MAP2K3","chr17:21201719","c.50-6T>C(exon2)","非编码区","rs8076154",{"$nulls":4},0.5,0.5,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,56,0,"MAP2K3",1,140,"非编码区",16302,"0.5424=64/118",null,5606,"17q11.2","NM_145109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19156",133,63,0.47,{"$nulls":3},"A有","32629A","MAP2K3","chr17:21215446","c.775-8C>T(exon10)","非编码区","rs62055363",{"$nulls":4},0.5,0.5,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,56,0,"MAP2K3",1,140,"非编码区",16302,"0.4863=71/146",null,5606,"17q11.2","NM_145109",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19223",25,24,0.96,{"$nulls":3},"A有","32629A","MAP4K4","chr2:102314391-102314392","c.-152(exon1)_c.-151(exon1)insCCG","非编码区","rs577276891",0.32,0.47,0.46,0.49,0.23,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MAP4K4",0.99,150,"非编码区",2420,"0.9355=29/31",null,9448,"2q11.2-q12","NM_145686",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19253",2,2,1,{"$nulls":3},"A有","32629A","MAPK14","chr6:35995633","c.-302A>G(exon1)","非编码区","rs56156688",0.12,0.16,0.15,0.17,0.071,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MAPK14",1,150,"非编码区",14200,"1.0000=2/2",null,1432,"6p21.3-p21.2","NM_139012",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v19301",8,8,1,{"$nulls":3},"A有","32629A","MARK3","chr14:103852164","c.-203C>G(exon1)","非编码区","rs11541718",0.23,0.33,0.36,0.31,0.34,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MARK3",1,150,"非编码区",14200,"1.0000=10/10",null,4140,"14q32.3","NM_001128918",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19366",90,31,0.34,{"$nulls":3},"A有","32629A","MAU2","chr19:19446936","c.300G>A(exon3)","p.P100P","rs769267",0.53,0.64,0.57,0.72,0.71,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MAU2",1,59,"同义",13203,"0.3400=34/100",null,23383,"19p13.11","NM_015329",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19391",33,33,1,{"$nulls":3},"A有","32629A","MBIP","chr14:36789775","c.20T>A(exon1)","p.L7H","rs2899849",0.79,0.95,0.96,0.95,0.96,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MBIP",1,150,"非同义",12220,"1.0000=37/37",null,51562,"14q13.3","NM_016586",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19416",15,9,0.6,{"$nulls":3},"A有","32629A","MC1R","chr16:89985940","c.274G>A(exon1)","p.V92M","rs2228479",0.08,0.27,0.33,0.21,0.21,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","8990005;11487574;17999355;20042077;20670983","家族性恶性皮肤黑色素瘤易感症5型",null,613099,5,2,3,4,"MC1R",1,26,"非同义",11200,"0.6250=10/16",null,4157,"16q24.3","NM_002386","VAL92MET|\"Ephelides_increased_risk_association_with\"|11487574","VAL92MET|association|NA|OMIM:155555.0002|no assertion criteria provided|PubMed:8990005","VAL92MET|266300|155555.0002.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19478",21,21,1,{"$nulls":3},"A有","32629A","MCM7","chr7:99699169","c.-252T>A(exon1)","非编码区","rs1534310",0.28,0.38,0.36,0.41,0.37,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MCM7",1,78,"非编码区",14200,"1.0000=24/24",null,4176,"7q21.3-q22.1","NM_005916",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19508",3,3,1,{"$nulls":3},"A有","32629A","MCTP1","chr5:94619545-94619546","c.720+14(exon1)_c.720+15(exon1)insG","非编码区","rs5869672",null,1,1,1,0.81,1,"纯合","未知","内含子突变",{"$nulls":4},4,null,3,0,"MCTP1",1,140,"非编码区",2500,"1.0000=3/3",null,79772,"5q15","NM_024717",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19538",125,68,0.54,{"$nulls":3},"A有","32629A","MDN1","chr6:90371202","c.14661C>T(exon88)","p.L4887L","rs9444701",0.73,0.92,0.89,0.94,0.89,0.9,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"MDN1",1,130,"同义",13203,"0.5357=75/140",null,23195,"6q15","NM_014611",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19602",50,50,1,{"$nulls":3},"A有","32629A","MED28","chr4:17625209","c.340-15G>C(exon4)","非编码区","rs11733730",0.64,0.87,0.84,0.89,0.88,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MED28",1,93,"非编码区",16202,"1.0000=56/56",null,80306,"4p16","NM_025205",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19625",12,12,1,{"$nulls":3},"A有","32629A","MEGF6","chr1:3416449","c.2747G>T(exon22)","p.R916L","rs7553399",0.57,0.4,0.4,0.4,0.42,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"MEGF6",1,38,"非同义",12210,"1.0000=12/12",null,1953,"1p36.3","NM_001409",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v19721",30,15,0.5,{"$nulls":3},"A有","32629A","MFAP2","chr1:17303589","c.127+15G>A(exon3)","非编码区","rs2235932",0.38,0.24,0.25,0.24,0.28,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17847002;18843385",{"$nulls":3},5,null,3,0,"MFAP2",1,49,"非编码区",16203,"0.5312=17/32",null,4237,"1p36.1-p35","NM_002403",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19750",79,36,0.46,{"$nulls":3},"A有","32629A","MFN2","chr1:12071680","c.*58A>G(exon19)","非编码区","rs1042842",0.73,0.65,0.67,0.63,0.61,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"恰克-玛丽-杜斯氏症2A2型，轴索型","AD,AR",609260,5,1,1,2,"MFN2",1,78,"非编码区",14200,"0.4535=39/86",null,9927,"1p36.22","NM_014874",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v19800",48,48,1,{"$nulls":3},"A有","32629A","MGP","chr12:15034996","c.*77A>T(exon5)","非编码区","rs2430735",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"科伊特尔综合症","AR",245150,5,1,1,1,"MGP",0.82,130,"非编码区",14200,"1.0000=50/50",null,4256,"12p12.3","NM_001190839",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19842",164,89,0.54,{"$nulls":3},"A有","32629A","MICAL3","chr22:18369916","c.2067+20T>C(exon15)","非编码区","rs4819644",0.23,0.27,0.22,0.33,0.28,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MICAL3",0.99,79,"非编码区",16203,"0.5135=95/185",null,57553,"22q11.21","NM_015241",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19897",60,60,1,{"$nulls":3},"A有","32629A","MICB","chr6:31474884","c.699G>A(exon4)","p.R233R",null,null,0.043,0.024,0.063,0.047,0.055,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"MICB",1,78,"同义",13403,"1.0000=71/71",null,4277,"6p21.3","NM_005931",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19929",62,26,0.42,{"$nulls":3},"A有","32629A","MIS12","chr17:5392161","c.-22C>T(exon3)","非编码区","rs929261",0.35,0.3,0.29,0.3,0.27,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MIS12",1,110,"非编码区",14200,"0.4203=29/69",null,79003,"17p13.2","NM_001258217",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v19978",147,71,0.48,{"$nulls":3},"A有","32629A","MLIP","chr6:54054686","c.958T>A(exon9)","p.S320T","rs6934690",0.8,0.81,0.85,0.77,0.74,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MLIP",1,200,"非同义",12220,"0.4682=81/173",null,90523,"6p12.1","NM_138569",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20011",35,16,0.46,{"$nulls":3},"A有","32629A","MLL4","chr19:36223675","c.6225G>A(exon28)","p.V2075V","rs746249057",{"$nulls":4},0.0077,0.0077,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"MLL4",0.96,52,"同义",13303,"0.4878=20/41",null,9757,"19q13.1","NM_014727",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20042",65,65,1,{"$nulls":3},"A有","32629A","MMADHC","chr2:150426362","c.*126A>G(exon8)","非编码区","rs6923",0.55,0.87,0.88,0.86,0.86,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甲基丙二酸尿症伴同型半胱氨酸血症CblD型","AR",277410,5,1,3,1,"MMADHC",1,200,"非编码区",14200,"1.0000=71/71",null,27249,"2q23.2","NM_015702",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20104",73,73,1,{"$nulls":3},"A有","32629A","MMP3","chr11:102713620","c.133A>G(exon2)","p.K45E","rs679620",0.65,0.67,0.65,0.68,0.66,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19008710;15748780;18303200;18636124;18727828","冠状动脉心脏病易感6型",null,614466,5,1,4,1,"MMP3",1,180,"非同义",12220,"1.0000=85/85",null,4314,"11q22.3","NM_002422","LYS45GLU|\"Blood_pressure_association_with\"|19008710",{"$nulls":3},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20134",92,92,1,{"$nulls":3},"A有","32629A","MNS1","chr15:56721264","c.*35C>T(exon10)","非编码区","rs795787",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"MNS1",1,120,"非编码区",14200,"1.0000=104/104",null,55329,"15q21.3","NM_018365",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20164",45,24,0.53,{"$nulls":3},"A有","32629A","MOGAT1","chr2:223536541","c.37G>A(exon1)","p.A13T","rs35959734",0.06,0.017,0.019,0.015,0.013,0.043,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MOGAT1",1,170,"非同义",12220,"0.5306=26/49",null,116255,"2q36.1","NM_058165",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20190",22,22,1,{"$nulls":3},"A有","32629A","MORN1","chr1:2288852","c.1036+19C>T(exon10)","非编码区","rs2645087",0.18,0.23,0.21,0.24,0.17,0.19,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MORN1",1,73,"非编码区",16203,"1.0000=23/23",null,79906,"1p36.33-p36.32","NM_024848",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20260",30,30,1,{"$nulls":3},"A有","32629A","MPP2","chr17:41960343","c.381A>G(exon5)","p.T127T","rs124719",0.83,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MPP2",1,57,"同义",13203,"1.0000=36/36",null,4355,"17q12-q21","NM_005374",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20286",8,8,1,{"$nulls":3},"A有","32629A","MR1","chr1:181028733","c.*4332T>C(exon7)","非编码区","rs10797667",0.72,0.89,0.9,0.88,0.89,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"非运动诱发的阵发性运动障碍1型","AD",118800,5,1,4,1,"MR1",1,99,"非编码区",14200,"1.0000=11/11",null,3140,"1q25.3","NM_001531",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20316",95,45,0.47,{"$nulls":3},"A有","32629A","MRO","chr18:48327815","c.489C>T(exon6)","p.A163A","rs2276186",0.43,0.39,0.4,0.38,0.39,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15532013;24851122",{"$nulls":3},5,null,3,0,"MRO",1,130,"同义",13203,"0.5263=60/114",null,83876,"18q21","NM_031939",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20387",28,28,1,{"$nulls":3},"A有","32629A","MRPS30","chr5:44809162","c.98G>C(exon1)","p.C33S","rs3747479",0.4,0.58,0.59,0.57,0.55,0.55,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MRPS30",1,140,"非同义",12220,"1.0000=33/33",null,10884,"5q11","NM_016640",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20412",31,13,0.42,{"$nulls":3},"A有","32629A","MS4A10","chr11:60567526-60567530","c.*144(exon8)_c.*148(exon8)delCTGGG","非编码区","rs71997819",0.51,0.85,0.86,0.83,0,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"MS4A10",1,88,"非编码区",2420,"0.4444=16/36",null,341116,"11q12.2","NM_206893",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20443",2,2,1,{"$nulls":3},"A有","32629A","MSC","chr8:72754502","c.*394C>T(exon2)","非编码区","rs3824153",0.081,0.14,0.17,0.12,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"MSC",1,39,"非编码区",14200,"1.0000=2/2",null,9242,"8q21","NM_005098",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v20521",64,64,1,{"$nulls":3},"A有","32629A","MTHFR","chr1:11854457","c.1305C>T(exon8)","p.F435F","rs4846051",0.9,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","15059157;16439441;18483346;19493349","高同型半胱氨酸血症（II型）","AR",236250,5,1,3,4,"MTHFR",1,69,"同义",13203,"1.0000=66/66",null,4524,"1p36.3","NM_005957","rs4846051|\"Preeclampsia_association_with\"|15059157","rs4846051|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"]
["32629A(745)v20546",29,12,0.41,{"$nulls":3},"A有","32629A","MTMR7","chr8:17270763","c.24+15C>G(exon1)","非编码区","rs2073694",0.41,0.46,0.48,0.45,0.41,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"MTMR7",1,160,"非编码区",16203,"0.4516=14/31",null,9108,"8p22","NM_004686",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20732",70,32,0.46,{"$nulls":3},"A有","32629A","MUC12","chr7:100612945","c.42C>T(exon1)","p.C14C","rs76619309",{"$nulls":4},0.46,0.11,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,64,0,"MUC12",1,410,"同义",13303,"0.4578=38/83",null,10071,"7q22","NM_001164462",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20762",129,129,1,{"$nulls":3},"A有","32629A","MUC12","chr7:100639012","c.5168C>T(exon2)","p.T1723I","rs55638317",0.7,0.66,0.64,0.68,0.44,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,64,0,"MUC12",1,410,"非同义",12220,"1.0000=148/148",null,10071,"7q22","NM_001164462",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20792",237,107,0.45,{"$nulls":3},"A有","32629A","MUC12","chr7:100647875","c.14031C>A(exon2)","p.S4677S","rs11766048",0.63,0.62,0.59,0.66,0.6,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,64,0,"MUC12",1,410,"同义",13203,"0.4224=117/277",null,10071,"7q22","NM_001164462",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20820",257,84,0.33,{"$nulls":3},"A有","32629A","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,76,0,"MUC16",1,160,"非编码区",16303,"0.3003=88/293",null,94025,"19p13.2","NM_024690",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20916",65,65,1,{"$nulls":3},"A有","32629A","MUC2","chr11:1078393","c.663+17T>C(exon5)","非编码区","rs7104590",0.44,0.45,0.41,0.49,0.48,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,24,0,"MUC2",1,110,"非编码区",16203,"1.0000=76/76",null,4583,"11p15.5","NM_002457",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20895",69,43,0.62,{"$nulls":3},"A有","32629A","MUC20","chr3:195452689","c.597C>T(exon2)","p.D199D","rs141077164",{"$nulls":4},0.49,0.51,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,23,0,"MUC20",1,140,"同义",13303,"0.6351=47/74",null,200958,"3q29","NM_001098516",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v20969",192,192,1,{"$nulls":3},"A有","32629A","MUC4","chr3:195505664","c.12787C>T(exon2)","p.P4263S","rs2688513",0.79,0.75,0.8,0.69,0.69,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21349170,{"$nulls":3},5,null,73,0,"MUC4",1,310,"非同义",12220,"1.0000=207/207",null,4585,"3q29","NM_018406",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21042",33,33,1,{"$nulls":3},"A有","32629A","MUC5B","chr11:1255090-1255094","c.2377+12(exon19)_c.2377+16(exon19)delCCCTG","非编码区","rs147340559",0.46,0.67,0.69,0.66,0.055,0.59,"纯合","未知","内含子突变",null,"端粒相关性肺纤维化和/或骨髓衰竭2型","AD",614743,4,1,48,1,"MUC5B",1,140,"非编码区",2500,"1.0000=36/36",null,727897,"11p15.5","NM_002458",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21068",183,178,0.97,{"$nulls":3},"A有","32629A","MUC5B","chr11:1268064","c.9954C>T(exon31)","p.A3318A","rs200948102",0.33,0.54,0.55,0.52,0.47,0.55,"纯合","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",614743,5,1,48,1,"MUC5B",1,140,"同义",13203,"0.9756=200/205",null,727897,"11p15.5","NM_002458",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21098",898,210,0.23,{"$nulls":3},"A有","32629A","MUC6","chr11:1016963","c.5838C>A(exon31)","p.G1946G","rs76273000",{"$nulls":4},0.48,0.089,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,84,0,"MUC6",1,340,"同义",13303,"0.2788=242/868",null,4588,"11p15.5","NM_005961",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21137",366,123,0.34,{"$nulls":3},"A有","32629A","MUC6","chr11:1018042","c.4759T>C(exon31)","p.S1587P","rs200364398",{"$nulls":4},0.46,0.33,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,84,0,"MUC6",1,340,"非同义",12320,"0.3342=133/398",null,4588,"11p15.5","NM_005961",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21199",150,67,0.45,{"$nulls":3},"A有","32629A","MXRA5","chrX:3238167","c.5559A>C(exon5)","p.P1853P","rs1635245",null,0.37,0.38,0.36,0.43,0.39,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,16,0,"MXRA5",1,97,"同义",13303,"0.4458=74/166",null,25878,"Xp22.33","NM_015419",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21223",41,24,0.59,{"$nulls":3},"A有","32629A","MYBPC3","chr11:47354787","c.3288G>A(exon30)","p.E1096E","rs1052373",0.48,0.69,0.74,0.63,0.65,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;24938736","家族性肥厚型心肌病4型","AD",115197,5,1,2,2,"MYBPC3",1,58,"同义",13203,"0.5714=24/42",null,4607,"11p11.2","NM_000256",null,"rs1052373|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21279",55,55,1,{"$nulls":3},"A有","32629A","MYH14","chr19:50796960","c.5469+16C>T(exon39)","非编码区","rs3745510",0.69,0.93,0.92,0.94,0.93,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"周围神经病变,肌病,喉咙疼痛和听力损失","AD",614369,5,1,9,2,"MYH14",1,68,"非编码区",16203,"1.0000=59/59",null,79784,"19q13.33","NM_001145809",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21303",35,35,1,{"$nulls":3},"A有","32629A","MYH6","chr14:23872666","c.800-11A>G(exon10)","非编码区","rs434273",0.78,0.65,0.72,0.59,0.67,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"病态窦房结综合征3型",null,614090,5,1,1,4,"MYH6",1,96,"非编码区",16202,"1.0000=37/37",null,4624,"14q12","NM_002471",null,"rs434273|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"]
["32629A(745)v21317",36,18,0.5,{"$nulls":3},"A有","32629A","MYH9","chr22:36684354","c.4876A>G(exon34)","p.I1626V","rs2269529",0.29,0.6,0.64,0.55,0.59,0.61,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;18716610;19891592;20124285","Epstein综合症","AD",153650,5,1,7,6,"MYH9",1,62,"非同义",12220,"0.5750=23/40",null,4627,"22q13.1","NM_002473",null,"ILE1626VAL|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21321",51,16,0.31,{"$nulls":3},"A有","32629A","MYH9","chr22:36708084","c.1728+10G>A(exon14)","非编码区","rs2413396",0.76,0.92,0.91,0.92,0.9,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;20124285;20144966;21245129","巨血小板减少症和渐进神经性耳聋","AD",600208,5,1,7,6,"MYH9",1,62,"非编码区",16203,"0.2982=17/57",null,4627,"22q13.1","NM_002473",null,"rs2413396|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"]
["32629A(745)v21390",26,14,0.54,{"$nulls":3},"A有","32629A","MYO1C","chr17:1377884","c.1797+20G>A(exon17)","非编码区","rs2286872",0.32,0.33,0.34,0.33,0.35,0.33,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MYO1C",1,54,"非编码区",16203,"0.5556=15/27",null,4641,"17p13.3","NM_001080779",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21420",117,117,1,{"$nulls":3},"A有","32629A","MYO5A","chr15:52667552","c.2526C>T(exon20)","p.I842I","rs2414145",0.84,0.96,0.96,0.96,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"格里塞利综合征1型(Griscelli综合征1型)","AR",214450,5,1,7,1,"MYO5A",1,120,"同义",13203,"1.0000=126/126",null,4644,"15q21","NM_000259",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21438",42,16,0.38,{"$nulls":3},"A有","32629A","MYO7A","chr11:76901927","c.3924+12C>T(exon30)","非编码区","rs2276285",0.47,0.45,0.46,0.44,0.49,0.54,"杂合","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11型","AD",601317,5,1,10,3,"MYO7A",1,73,"非编码区",16203,"0.4000=18/45",null,4647,"11q13.5","NM_000260",null,"rs2276285|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"]
["32629A(745)v21495",150,73,0.49,{"$nulls":3},"A有","32629A","MYOM2","chr8:2056569","c.2999-8C>T(exon24)","非编码区","rs1978898",0.15,0.17,0.17,0.17,0.16,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"MYOM2",1,130,"非编码区",16202,"0.4583=77/168",null,9172,"8p23.3","NM_003970",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21515",68,68,1,{"$nulls":3},"A有","32629A","MYOZ3","chr5:150051958","c.481T>C(exon6)","p.S161P","rs194134",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"MYOZ3",1,64,"非同义",12220,"1.0000=74/74",null,91977,"5q33.1","NM_001122853",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21544",68,68,1,{"$nulls":3},"A有","32629A","MYT1L","chr2:1946968","c.291G>A(exon9)","p.E97E","rs3748989",0.17,0.31,0.34,0.29,0.3,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"MYT1L",1,86,"同义",13203,"1.0000=72/72",null,23040,"2p25.3","NM_015025",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21610",200,200,1,{"$nulls":3},"A有","32629A","NAF1","chr4:164085425","c.484A>G(exon2)","p.I162V","rs4691896",0.79,0.78,0.78,0.79,0.77,0.79,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NAF1",1,150,"非同义",12220,"1.0000=240/240",null,92345,"4q32.2","NM_138386",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21618",5,3,0.6,{"$nulls":3},"A有","32629A","NAGK","chr2:71305812","c.*174A>C(exon10)","非编码区","rs77436320",0.13,0.51,0.54,0.49,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NAGK",1,99,"非编码区",14200,"0.6000=3/5",null,55577,"2p13.3","NM_017567",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21666",118,118,1,{"$nulls":3},"A有","32629A","NAT1","chr8:18077007","c.180+9G>C(exon4)","非编码区","rs10106882",null,1,1,1,1,1,"纯合","未知","内含子突变可能影响调控",{"$nulls":4},4,null,4,0,"NAT1",1,150,"非编码区",16303,"1.0000=133/133",null,9,"8p22","NM_001160175",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21750",470,185,0.39,{"$nulls":3},"A有","32629A","NBPF1","chr1:16902884","c.1997A>G(exon19)","p.N666S","rs74630591",{"$nulls":4},0.43,0.46,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,30,0,"NBPF1",1,880,"非同义",12320,"0.3931=206/524",null,55672,"1p36.13","NM_017940",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21729",933,268,0.29,{"$nulls":3},"A有","32629A","NBPF10","chr1:145311083","c.1802-20A>C(exon13)","非编码区","rs61816366",{"$nulls":4},0.5,0.5,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,17,0,"NBPF10",1,300,"非编码区",16302,"0.2756=299/1085",null,100132406,"1q21.1","NM_001039703",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21789",72,17,0.24,{"$nulls":3},"A有","32629A","NBPF9","chr1:144813723","c.216-19C>T(exon2)","非编码区","rs374239613",0.21,0.32,0.3,0.35,0.18,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"NBPF9",1,230,"非编码区",16202,"0.2329=17/73",null,400818,"1q21.1","NM_001037675",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21810",82,44,0.54,{"$nulls":3},"A有","32629A","NCAPG2","chr7:158447855","c.2601A>C(exon21)","p.E867D","rs3214000",0.026,0.15,0.14,0.15,0.14,0.12,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"NCAPG2",1,150,"非同义",12120,"0.5172=45/87",null,54892,"7q36.3","NM_017760",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21886",40,19,0.47,{"$nulls":3},"A有","32629A","NCR1","chr19:55424204-55424206","c.880(exon7)_c.882(exon7)delGAA","p.E294del",null,null,0.091,0.067,0.12,0.012,0.079,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,4,0,"NCR1",1,84,"非移码",2241,"0.4750=19/40",null,9437,"19q13.42","NM_004829",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v21914",80,47,0.59,{"$nulls":3},"A有","32629A","NDUFA10","chr2:240961728","c.105A>G(exon2)","p.K35K","rs2083411",0.7,0.79,0.78,0.81,0.77,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",17601350,"Leigh综合征","AR",256000,5,3,2,1,"NDUFA10",1,110,"同义",13203,"0.5824=53/91",null,4705,"2q37.3","NM_004544",null,"rs2083411|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"]
["32629A(745)v21938",9,9,1,{"$nulls":3},"A有","32629A","NDUFB4","chr3:120320757","c.*617A>G(exon2)","非编码区","rs804970",0.78,0.84,0.85,0.83,0.87,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"NDUFB4",1,140,"非编码区",14200,"1.0000=9/9",null,4710,"3q13.33","NM_001168331",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22005",138,138,1,{"$nulls":3},"A有","32629A","NEDD4","chr15:56130286","c.3242+19T>A(exon16)","非编码区","rs11071227",0.91,0.97,0.96,0.99,0.96,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"NEDD4",1,180,"非编码区",16203,"1.0000=165/165",null,4734,"15q","NM_198400",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22028",12,6,0.5,{"$nulls":3},"A有","32629A","NEFL","chr8:24810088","c.*235A>T(exon4)","非编码区","rs1059111",0.72,0.56,0.52,0.59,0.63,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","25003827;25312269","恰克-马利-杜斯氏症1F型，脱髓鞘型","AD,AR",607734,5,1,2,2,"NEFL",1,67,"非编码区",14200,"0.5000=6/12",null,4747,"8p21","NM_006158",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22057",117,117,1,{"$nulls":3},"A有","32629A","NEK9","chr14:75590822","c.324C>T(exon2)","p.H108H","rs8017642",0.5,0.83,0.82,0.83,0.84,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NEK9",1,120,"同义",13203,"1.0000=134/134",null,91754,"14q24.3","NM_033116",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22087",118,118,1,{"$nulls":3},"A有","32629A","NET1","chr10:5498248","c.1384+12G>T(exon11)","非编码区","rs4242790",0.63,0.64,0.62,0.67,null,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NET1",1,120,"非编码区",16203,"1.0000=132/132",null,10276,"10p15","NM_001047160",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22135",68,36,0.53,{"$nulls":3},"A有","32629A","NFE2L3","chr7:26225055","c.1737C>A(exon4)","p.I579I","rs189509535",0.0006,0.0024,0.0048,0,6.3E-3,5.3E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"NFE2L3",0.96,90,"同义",13103,"0.5316=42/79",null,9603,"7p15.2","NM_004289",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22151",19,19,1,{"$nulls":3},"A有","32629A","NFKBIA","chr14:35871093","c.*126G>A(exon6)","非编码区","rs696",0.46,0.39,0.39,0.4,0.38,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","21738780;17354114;19223558;19500386;19797428","常显性无汗性外胚层发育不良伴T细胞缺乏","AD",612132,5,1,4,1,"NFKBIA",1,79,"非编码区",14200,"1.0000=21/21",null,4792,"14q13","NM_020529","rs696|\"Colorectal_cancer_increased_risk_association_with\"|21738780",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22189",111,57,0.51,{"$nulls":3},"A有","32629A","NID1","chr1:236175339","c.2409A>G(exon12)","p.V803V","rs2031487",0.7,0.8,0.79,0.82,0.77,0.76,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"NID1",1,86,"同义",13203,"0.5167=62/120",null,4811,"1q43","NM_002508",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22257",58,25,0.43,{"$nulls":3},"A有","32629A","NKAPL","chr6:28227604","c.455C>A(exon1)","p.T152N","rs1635",0.22,0.36,0.38,0.33,0.29,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","22037552;23871474;24972756",{"$nulls":3},5,null,3,0,"NKAPL",1,110,"非同义",12210,"0.4219=27/64",null,222698,"6p22.1","NM_001007531",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22287",44,24,0.55,{"$nulls":3},"A有","32629A","NLRC5","chr16:57059999","c.1144G>A(exon5)","p.A382T","rs200058658",0.0008,0,0,0,0.00053,0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,11,0,"NLRC5",1,59,"非同义",12120,"0.5417=26/48",null,84166,"16q13","NM_032206",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22301",65,36,0.55,{"$nulls":3},"A有","32629A","NLRP11","chr19:56321295","c.681C>T(exon5)","p.I227I","rs12977654",0.1,0.29,0.28,0.3,0.25,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"NLRP11",1,96,"同义",13203,"0.5733=43/75",null,204801,"19q13.43","NM_145007",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22372",32,32,1,{"$nulls":3},"A有","32629A","NLRX1","chr11:119052826","c.2378C>A(exon9)","p.A793E","rs4245191",0.69,0.88,0.9,0.87,0.87,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"NLRX1",1,51,"非同义",12220,"1.0000=34/34",null,79671,"11q23.3","NM_024618",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22414",68,29,0.43,{"$nulls":3},"A有","32629A","NMU","chr4:56471433","c.435+9T>C(exon7)","非编码区","rs1873091",0.15,0.062,0.057,0.068,0.068,0.079,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NMU",1,190,"非编码区",16203,"0.3974=31/78",null,10874,"4q12","NM_006681",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22428",43,43,1,{"$nulls":3},"A有","32629A","NOC2L","chr1:888639","c.918A>G(exon9)","p.E306E","rs3748596",0.92,0.92,0.89,0.95,0.92,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"NOC2L",1,56,"同义",13203,"1.0000=46/46",null,26155,"1p36.33","NM_015658",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22497",41,21,0.51,{"$nulls":3},"A有","32629A","NOS2","chr17:26092555","c.2428+6C>T(exon20)","非编码区","rs2297512",0.73,0.67,0.6,0.73,0.68,0.7,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","17601350;19309520","疟疾,易感",null,611162,5,2,6,2,"NOS2",1,86,"非编码区",16202,"0.4783=22/46",null,4843,"17q11.2-q12","NM_000625",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22506",60,60,1,{"$nulls":3},"A有","32629A","NOS3","chr7:150704250","c.1998C>G(exon17)","p.A666A","rs2566514",0.43,0.4,0.39,0.41,0.39,0.36,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",17601350,"原发性高血压",null,145500,5,1,7,4,"NOS3",0.96,48,"同义",13203,"1.0000=66/66",null,4846,"7q36","NM_000603",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22520",33,33,1,{"$nulls":3},"A有","32629A","NOTCH1","chr9:139410424","c.1669+9T>C(exon10)","非编码区","rs3125006",0.88,0.94,0.91,0.96,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Adams-oliver综合征5型","AD",616028,5,1,11,2,"NOTCH1",1,37,"非编码区",16203,"1.0000=40/40",null,4851,"9q34.3","NM_017617",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22540",24,5,0.21,{"$nulls":3},"A有","32629A","NOTCH3","chr19:15271771","c.6668C>T(exon33)","p.A2223V","rs1044009",0.63,0.54,0.6,0.49,0.57,0.64,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22664156,"婴儿肌纤维瘤病2型","AD",615293,5,1,10,2,"NOTCH3",0.98,41,"非同义",12220,"0.2692=7/26",null,4854,"19p13.2-p13.1","NM_000435",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22600",85,33,0.39,{"$nulls":3},"A有","32629A","NPFF","chr12:53900640","c.262T>C(exon3)","p.W88R","rs35822762",0.024,0.031,0.024,0.039,0.029,0.031,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"NPFF",1,79,"非同义",12120,"0.4105=39/95",null,8620,"12q13.13","NM_003717",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22622",156,67,0.43,{"$nulls":3},"A有","32629A","NPL","chr1:182794901-182794902","c.682-15(exon10)_c.682-14(exon10)insT","非编码区","rs397704260",0.27,0.12,0.1,0.13,0.15,0.14,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"NPL",0.94,130,"非编码区",2500,"0.4211=72/171",null,80896,"1q25","NM_001200050",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22667",40,40,1,{"$nulls":3},"A有","32629A","NR2F2","chr15:96876611","c.-493T>A(exon1)","非编码区","rs7173047",0.4,0.6,0.6,0.59,0.57,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"先天性心脏缺陷4，多种类型","AD",615779,5,1,1,1,"NR2F2",1,94,"非编码区",14200,"1.0000=49/49",null,7026,"15q26","NM_001145157",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22697",84,84,1,{"$nulls":3},"A有","32629A","NRAP","chr10:115412686","c.570+8C>T(exon6)","非编码区","rs3121488",0.88,0.93,0.92,0.93,null,0.9,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,20,0,"NRAP",1,110,"非编码区",16203,"1.0000=94/94",null,4892,"10q24-q26","NM_001261463",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22727",128,53,0.41,{"$nulls":3},"A有","32629A","NRG1","chr8:32621844","c.1748G>T(exon12)","p.G583V","rs75155858",0.1,0.35,0.34,0.36,0.3,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"精神分裂症6型",null,603013,5,2,4,1,"NRG1",1,110,"非同义",12220,"0.4014=57/142",null,3084,"8p12","NM_001159995",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22751",78,39,0.5,{"$nulls":3},"A有","32629A","NRXN1","chr2:50692560","c.3484+20T>C(exon18)","非编码区","rs3213756",0.34,0.44,0.46,0.42,0.42,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"染色体2q16.3缺失综合征/精神分裂症（易感）17型",null,614332,5,2,3,2,"NRXN1",1,120,"非编码区",16203,"0.4737=45/95",null,9378,"2p16.3","NM_001135659",null,"rs3213756|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"]
["32629A(745)v22812",77,40,0.52,{"$nulls":3},"A有","32629A","NTF3","chr12:5603602","c.261G>C(exon2)","p.R87R","rs11063713",0.12,0.16,0.16,0.17,0.17,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"NTF3",1,110,"同义",13203,"0.5294=45/85",null,4908,"12p13","NM_001102654",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22840",87,39,0.45,{"$nulls":3},"A有","32629A","NUBP1","chr16:10855341","c.717+10C>T(exon8)","非编码区","rs2233539",0.27,0.5,0.5,0.5,0.47,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NUBP1",1,120,"非编码区",16203,"0.4700=47/100",null,4682,"16p13.13","NM_002484",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22864",82,39,0.48,{"$nulls":3},"A有","32629A","NUDT13","chr10:74886598","c.858+13C>G(exon8)","非编码区","rs7072086",0.29,0.38,0.39,0.37,null,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"NUDT13",1,120,"非编码区",16203,"0.4615=42/91",null,25961,"10q22.1","NM_015901",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22939",39,39,1,{"$nulls":3},"A有","32629A","NUP62","chr19:50411742","c.1323T>C(exon3)","p.D441D","rs892028",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","婴幼儿纹状体退化","AR",271930,5,1,6,1,"NUP62",1,62,"同义",13203,"1.0000=41/41",null,23636,"19q13.33","NM_016553",null,"rs892028|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"]
["32629A(745)v22963",183,96,0.52,{"$nulls":3},"A有","32629A","NVL","chr1:224495852","c.456G>A(exon6)","p.R152R","rs7534447",0.82,0.88,0.87,0.89,0.9,0.9,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"NVL",0.97,140,"同义",13203,"0.5396=109/202",null,4931,"1q41-q42.2","NM_002533",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v22993",32,12,0.38,{"$nulls":3},"A有","32629A","OAF","chr11:120099658","c.629A>G(exon4)","p.H210R","rs2508489",0.56,0.16,0.12,0.19,0.15,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OAF",1,37,"非同义",12220,"0.3514=13/37",null,220323,"11q23.3","NM_178507",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23023",111,111,1,{"$nulls":3},"A有","32629A","OAT","chr10:126089434","c.1134C>T(exon9)","p.N378N","rs11461",0.41,0.6,0.59,0.61,0.54,0.59,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库,OMIM数据库","脉络膜视网膜脑回状萎缩伴或不伴鸟氨酸血症","AR",258870,5,1,2,1,"OAT",1,170,"同义",11200,"1.0000=120/120",null,4942,"10q26","NM_000274",null,"rs11461|Benign|NA|OMIM:613349.0017|no assertion criteria provided|NA","ASN378ASN|258870|613349.0017.1",null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23084",34,13,0.38,{"$nulls":3},"A有","32629A","ODF1","chr8:103563907","c.-49G>T(exon1)","非编码区","rs3808357",0.42,0.41,0.41,0.4,0.36,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ODF1",1,77,"非编码区",14200,"0.3514=13/37",null,4956,"8q22.3","NM_024410",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23111",106,45,0.42,{"$nulls":3},"A有","32629A","OGFOD2","chr12:123460962","c.9+14T>C(exon3)","非编码区","rs884956",0.49,0.64,0.7,0.58,0.64,0.67,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OGFOD2",1,45,"非编码区",16203,"0.3866=46/119",null,79676,"12q24.31","NM_024623",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23156",29,11,0.38,{"$nulls":3},"A有","32629A","OPN4","chr10:88422116","c.1214C>T(exon9)","p.T405I","rs1079610",0.75,0.78,0.8,0.76,0.64,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23555953;16385451;18804284;19470168;20180986",{"$nulls":3},5,null,3,0,"OPN4",1,54,"非同义",12210,"0.3871=12/31",null,94233,"10q22","NM_001030015","THR405ILE|\"Pupillary_light_response_association_with\"|23555953;rs1079610|\"Pupillary_light_response_association_with\"|23555953",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23195",174,109,0.63,{"$nulls":3},"A有","32629A","OR10G4","chr11:123886307","c.26C>T(exon1)","p.A9V","rs79057843",0.31,0.21,0.24,0.18,0.18,0.2,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24316890,{"$nulls":3},5,null,9,0,"OR10G4",1,200,"非同义",12220,"0.6111=121/198",null,390264,"11q24.1","NM_001004462","ALA9VAL|\"Altered_receptor_function\"|24316890",{"$nulls":3},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23225",60,60,1,{"$nulls":3},"A有","32629A","OR10J1","chr1:159409533","c.-16G>A(exon1)","非编码区","rs10908721",0.91,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR10J1",1,94,"非编码区",14200,"1.0000=66/66",null,26476,"1q23.2","NM_012351",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23253",59,59,1,{"$nulls":3},"A有","32629A","OR11L1","chr1:248004848","c.351C>G(exon1)","p.F117L","rs4607924",0.89,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"OR11L1",1,120,"非同义",12220,"1.0000=61/61",null,391189,"1q44","NM_001001959",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23328",133,62,0.47,{"$nulls":3},"A有","32629A","OR1B1","chr9:125391409","c.406T>C(exon1)","p.L136L","rs1536928",0.41,0.36,0.33,0.39,0.36,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"OR1B1",1,120,"同义",13203,"0.4861=70/144",null,347169,"9q33.2","NM_001004450",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23358",88,37,0.42,{"$nulls":3},"A有","32629A","OR1L8","chr9:125330325","c.432G>C(exon1)","p.L144L","rs10985703",0.42,0.81,0.81,0.81,0.79,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OR1L8",1,120,"同义",13203,"0.4124=40/97",null,138881,"9q33.2","NM_001004454",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23384",160,96,0.6,{"$nulls":3},"A有","32629A","OR1S2","chr11:57971201","c.453C>T(exon1)","p.A151A","rs11229280",0.51,0.77,0.79,0.74,0.75,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR1S2",1,210,"同义",13203,"0.5873=111/189",null,219958,"11q12.1","NM_001004459",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23456",291,291,1,{"$nulls":3},"A有","32629A","OR2M7","chr1:248487768","c.103T>C(exon1)","p.F35L","rs7555424",0.8,0.87,0.9,0.84,0.87,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"OR2M7",1,260,"非同义",12210,"1.0000=322/322",null,391196,"1q44","NM_001004691",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23482",160,159,0.99,{"$nulls":3},"A有","32629A","OR2T33","chr1:248436805","c.312A>C(exon1)","p.T104T","rs28399248",{"$nulls":4},0.67,0.78,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"OR2T33",1,290,"同义",13303,"0.9947=188/189",null,391195,"1q44","NM_001004695",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23512",77,32,0.42,{"$nulls":3},"A有","32629A","OR2T8","chr1:248084579","c.260G>A(exon1)","p.S87N","rs113819678",0.16,0.25,0.25,0.26,0.31,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"OR2T8",1,210,"非同义",12220,"0.3908=34/87",null,343172,"1q44","NM_001005522",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23542",66,11,0.17,{"$nulls":3},"A有","32629A","OR4A47","chr11:48510698","c.354T>C(exon1)","p.Y118Y","rs201850440",{"$nulls":4},0.28,null,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"OR4A47",1,100,"同义",13303,"0.2000=14/70",null,403253,"11p11.2","NM_001005512",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23609",3,3,1,{"$nulls":3},"A有","32629A","OR4F5","chr1:69897","c.807T>C(exon1)","p.S269S","rs200676709",0.69,0.89,0.86,0.92,0.39,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR4F5",1,390,"同义",13203,"1.0000=4/4",null,79501,"1p36.33","NM_001005484",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23639",137,40,0.29,{"$nulls":3},"A有","32629A","OR4N4","chr15:22382728","c.256C>T(exon1)","p.L86F","rs2808136",{"$nulls":4},0.13,0.19,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,8,0,"OR4N4",1,170,"非同义",12320,"0.2866=45/157",null,283694,"15q11.2","NM_001005241",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23669",72,30,0.42,{"$nulls":3},"A有","32629A","OR51B6","chr11:5372881","c.144G>A(exon1)","p.R48R","rs77135024",0.11,0.082,0.1,0.063,0.11,0.082,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"OR51B6",1,90,"同义",13203,"0.4096=34/83",null,390058,"11p15.4","NM_001004750",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23704",71,43,0.61,{"$nulls":3},"A有","32629A","OR52B6","chr11:5602605","c.499G>A(exon1)","p.A167T","rs2341433",0.57,0.78,0.78,0.78,0.76,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"OR52B6",1,85,"非同义",12220,"0.6316=48/76",null,340980,"11p15.4","NM_001005162",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23766",66,31,0.47,{"$nulls":3},"A有","32629A","OR5AC2","chr3:97806616","c.600G>A(exon1)","p.M200I","rs4518168",0.52,0.44,0.42,0.47,0.44,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR5AC2",1,110,"非同义",12220,"0.4648=33/71",null,81050,"3q12.1","NM_054106",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23792",127,127,1,{"$nulls":3},"A有","32629A","OR5D13","chr11:55541098","c.185G>A(exon1)","p.C62Y","rs297118",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"OR5D13",1,120,"非同义",12220,"1.0000=144/144",null,390142,"11q11","NM_001001967",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23863",100,57,0.57,{"$nulls":3},"A有","32629A","OR6C4","chr12:55945258","c.248T>C(exon1)","p.M83T","rs11835716",0.12,0.11,0.095,0.13,0.1,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR6C4",1,100,"非同义",12210,"0.5780=63/109",null,341418,"12q13.2","NM_001005494",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23895",74,74,1,{"$nulls":3},"A有","32629A","OR6Q1","chr11:57798723","c.299A>G(exon1)","p.D100G","rs921135",0.41,0.69,0.69,0.68,0.68,0.68,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OR6Q1",1,81,"非同义",12220,"1.0000=85/85",null,219952,"11q12.1","NM_001005186",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23921",89,49,0.55,{"$nulls":3},"A有","32629A","OR7E24","chr19:9362443","c.724C>T(exon1)","p.P242S","rs2240928",0.53,0.56,0.55,0.57,0.55,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR7E24",1,93,"非同义",12220,"0.5368=51/95",null,26648,"19p13.2","NM_001079935",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v23954",136,67,0.49,{"$nulls":3},"A有","32629A","OR8D1","chr11:124179835","c.828G>A(exon1)","p.V276V","rs4936918",0.29,0.44,0.47,0.41,0.44,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"OR8D1",1,120,"同义",13203,"0.4898=72/147",null,283159,"11q24.2","NM_001002917",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24025",166,49,0.3,{"$nulls":3},"A有","32629A","OR8U1","chr11:56143426-56143429","c.327(exon1)_c.329(exon1)delATCA","p.I109_S110delinsI","rs767571255",{"$nulls":5},0.039,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,79,0,"OR8U1",1,140,"非移码",2233,"0.2888=54/187",null,219417,"11q12.1","NM_001005204",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24051",75,25,0.33,{"$nulls":3},"A有","32629A","OR8U1","chr11:56143723","c.624T>C(exon1)","p.I208I","rs12272349",{"$nulls":4},0.24,0.47,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,79,0,"OR8U1",1,140,"同义",13303,"0.3571=30/84",null,219417,"11q12.1","NM_001005204",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24082",141,141,1,{"$nulls":3},"A有","32629A","OR9G1","chr11:56468048","c.185C>T(exon1)","p.T62I","rs2865520",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,31,0,"OR9G1",1,170,"非同义",12220,"1.0000=157/157",null,390174,"11q12.1","NM_001005213",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24145",90,44,0.49,{"$nulls":3},"A有","32629A","OSBPL3","chr7:24844066","c.2445-10G>C(exon22)","非编码区","rs2285653",{"$nulls":4},0.52,0.51,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,3,0,"OSBPL3",1,140,"非编码区",16302,"0.4845=47/97",null,26031,"7p15","NM_015550",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24175",73,73,1,{"$nulls":3},"A有","32629A","OTOA","chr16:21689879","c.44T>A(exon1)","p.F15Y","rs78970023",0.1,0.25,0.23,0.26,0.29,0.26,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"常染色体隐性遗传耳聋22型","AR",607039,5,1,4,1,"OTOA",1,120,"非同义",12220,"1.0000=76/76",null,146183,"16p12.2|16p12.2","NM_144672",null,"PHE15TYR|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24205",9,2,0.22,{"$nulls":3},"A有","32629A","OTOP1","chr4:4228479","c.113C>G(exon1)","p.S38C","rs199890951",{"$nulls":4},0.061,0.02,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,7,0,"OTOP1",1,70,"非同义",12320,"0.2222=2/9",null,133060,"4p16.3","NM_177998",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24278",16,7,0.44,{"$nulls":3},"A有","32629A","OXR1","chr8:107670141","c.-74G>A(exon1)","非编码区","rs2282510",0.3,0.2,0.2,0.21,0.22,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"OXR1",0.94,190,"非编码区",14200,"0.4500=9/20",null,55074,"8q23","NM_181354",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24316",72,72,1,{"$nulls":3},"A有","32629A","P2RY2","chr11:72945341","c.137C>T(exon3)","p.P46L","rs2511241",null,0.88,0.9,0.86,0.91,0.89,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",22773251,{"$nulls":3},3,null,3,0,"P2RY2",1,41,"非同义",12320,"1.0000=82/82",null,5029,"11q13.5-q14.1","NM_176072",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24334",9,3,0.33,{"$nulls":3},"A有","32629A","PABPC1","chr8:101715468","c.*121A>G(exon15)","非编码区","rs79742698",{"$nulls":4},0.46,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,8,0,"PABPC1",1,150,"非编码区",14300,"0.3333=3/9",null,26986,"8q22.2-q23","NM_002568",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24410",455,455,1,{"$nulls":3},"A有","32629A","PAGE2","chrX:55116466","c.13C>G(exon2)","p.L5V","rs1845444",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",{"$nulls":4},3,null,1,0,"PAGE2",1,530,"非同义",12320,"1.0000=542/542",null,203569,"Xp11.21","NM_207339",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24447",59,25,0.42,{"$nulls":3},"A有","32629A","PALM","chr19:731077","c.270-18G>C(exon5)","非编码区","rs10405836",0.52,0.5,0.5,0.5,0.48,0.48,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PALM",1,49,"非编码区",16202,"0.4179=28/67",null,5064,"19p13.3","NM_002579",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24463",54,54,1,{"$nulls":3},"A有","32629A","PANK4","chr1:2452569","c.393A>G(exon3)","p.K131K","rs2985862",0.85,0.98,0.97,0.99,0.96,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PANK4",1,62,"同义",13203,"1.0000=57/57",null,55229,"1p36.32","NM_018216",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24493",49,27,0.55,{"$nulls":3},"A有","32629A","PAQR6","chr1:156215899","c.-260C>T(exon3)","非编码区","rs2075165",0.48,0.42,0.48,0.36,0.47,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PAQR6",1,63,"非编码区",14200,"0.5263=30/57",null,79957,"1q22","NM_024897",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24558",184,80,0.43,{"$nulls":3},"A有","32629A","PARP8","chr5:50057729","c.420G>T(exon7)","p.G140G","rs282547",null,0.12,0.095,0.14,0.12,0.12,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"PARP8",0.96,190,"同义",13303,"0.4433=90/203",null,79668,"5q11.1","NM_001178055",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24584",2,2,1,{"$nulls":3},"A有","32629A","PATE1","chr11:125619227","c.*599G>A(exon5)","非编码区","rs568195",0.82,0.83,0.81,0.84,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PATE1",1,150,"非编码区",14200,"1.0000=2/2",null,160065,"11q24.2","NM_138294",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24603",39,17,0.44,{"$nulls":3},"A有","32629A","PBK","chr8:27667719","c.*103G>C(exon8)","非编码区","rs1052874",0.22,0.35,0.38,0.32,0.36,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16251468,{"$nulls":3},5,null,5,0,"PBK",1,150,"非编码区",14200,"0.4390=18/41",null,55872,"8p21.2","NM_018492",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24656",71,71,1,{"$nulls":3},"A有","32629A","PCDHA10","chr5:140237548","c.1915A>G(exon1)","p.T639A","rs630162",0.61,0.42,0.36,0.49,0.46,0.47,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PCDHA10",1,150,"非同义",12220,"1.0000=86/86",null,56139,"5q31","NM_018901",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24666",163,162,0.99,{"$nulls":3},"A有","32629A","PCDHA9","chr5:140229086","c.1006C>G(exon1)","p.L336V","rs251354",{"$nulls":4},0.47,0.48,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",23031252,{"$nulls":3},3,null,9,0,"PCDHA9",1,150,"非同义",12320,"0.9947=189/190",null,9752,"5q31","NM_014005",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24689",44,44,1,{"$nulls":3},"A有","32629A","PCDHB14","chr5:140605030","c.1953T>G(exon1)","p.P651P","rs650955",null,0.71,0.71,0.71,0.67,0.67,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"PCDHB14",1,140,"同义",13303,"1.0000=51/51",null,56122,"5q31","NM_018934",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24757",106,45,0.42,{"$nulls":3},"A有","32629A","PCDHB9","chr5:140569353","c.*68G>A(exon1)","非编码区","rs3733691",0.26,0.53,0.53,0.52,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PCDHB9",1,160,"非编码区",14200,"0.4132=50/121",null,56127,"5q31","NM_019119",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24799",53,22,0.42,{"$nulls":3},"A有","32629A","PCDHGB2","chr5:140741673","c.1971G>C(exon1)","p.T657T","rs73265834",0.13,0.038,0.043,0.034,0.039,0.043,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PCDHGB2",1,88,"同义",13203,"0.4262=26/61",null,56103,"5q31","NM_018923",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24816",55,55,1,{"$nulls":3},"A有","32629A","PCDHGC3","chr5:140857798","c.2115T>C(exon1)","p.F705F","rs1423148",0.55,0.32,0.31,0.33,0.34,0.33,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PCDHGC3",1,77,"同义",13203,"1.0000=66/66",null,5098,"5q31","NM_002588",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24880",188,188,1,{"$nulls":3},"A有","32629A","PCNXL4","chr14:60581863","c.339G>A(exon3)","p.P113P","rs219314",0.69,0.76,0.74,0.78,0.8,0.77,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PCNXL4",1,170,"同义",13203,"1.0000=218/218",null,64430,"14q23.1","NM_022495",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24909",27,15,0.56,{"$nulls":3},"A有","32629A","PCSK7","chr11:117096652","c.855C>T(exon6)","p.S285S","rs2277287",0.25,0.15,0.13,0.17,0.19,0.18,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PCSK7",1,78,"同义",13203,"0.5000=16/32",null,9159,"11q23-q24","NM_004716",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v24931",9,5,0.56,{"$nulls":3},"A有","32629A","PDCD6IP","chr3:33840114","c.-107T>C(exon1)","非编码区","rs1141054",0.44,0.41,0.44,0.39,0.43,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PDCD6IP",1,160,"非编码区",14200,"0.5556=5/9",null,10015,"3p22.3","NM_001162429",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v25031",333,333,1,{"$nulls":3},"A有","32629A","PDE4DIP","chr1:145016020","c.77-9A>C(exon3)","非编码区","rs657162",0.94,0.96,0.96,0.96,0.95,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,69,0,"PDE4DIP",1,170,"非编码区",16202,"1.0000=365/365",null,9659,"1q12","NM_001198832",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v25074",88,36,0.41,{"$nulls":3},"A有","32629A","PDGFRL","chr8:17500119","c.940-3C>T(exon7)","非编码区","rs17633132",0.12,0.12,0.14,0.097,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",22926996,"肝癌","AD",114550,5,1,4,2,"PDGFRL",1,130,"非编码区",16202,"0.4100=41/100",null,5157,"8p22-p21.3","NM_006207","rs17633132|\"BehÃ§et_disease_association_with\"|22926996",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25140",2,2,1,{"$nulls":3},"A有","32629A","PDS5A","chr4:39979179-39979180","c.-144(exon1)_c.-143(exon1)insCGG","非编码区","rs563638933",0.19,0.19,0.2,0.17,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PDS5A",1,170,"非编码区",2420,"1.0000=2/2",null,23244,"4p14","NM_001100399",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
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["32629A(745)v25199",57,57,1,{"$nulls":3},"A有","32629A","PEAR1","chr1:156882996","c.2433G>C(exon19)","p.P811P","rs822441",0.32,0.34,0.3,0.38,0.39,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"PEAR1",1,63,"同义",13203,"1.0000=65/65",null,375033,"1q23.1","NM_001080471",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v25286",48,48,1,{"$nulls":3},"A有","32629A","PFKP","chr10:3150973","c.927C>T(exon11)","p.F309F","rs1132173",0.37,0.53,0.57,0.5,0.44,0.48,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PFKP",0.97,88,"同义",13203,"1.0000=57/57",null,5214,"10p15.3-p15.2","NM_001242339",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25328",167,167,1,{"$nulls":3},"A有","32629A","PGM2L1","chr11:74053547","c.1591G>A(exon12)","p.V531I","rs592644",null,0.81,0.85,0.78,0.81,0.81,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,6,0,"PGM2L1",1,170,"非同义",12320,"1.0000=186/186",null,283209,"11q13.4","NM_173582",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25378",104,103,0.99,{"$nulls":3},"A有","32629A","PHF7","chr3:52453893","c.231C>T(exon5)","p.G77G","rs498778",0.97,0.99,0.99,0.99,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PHF7",1,100,"同义",13203,"0.9913=114/115",null,51533,"3p21.1","NM_016483",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25405",65,65,1,{"$nulls":3},"A有","32629A","PHLDB3","chr19:43979589","c.1896C>A(exon16)","p.T632T","rs1055099",0.56,0.69,0.72,0.65,0.65,0.65,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PHLDB3",1,61,"同义",13203,"1.0000=70/70",null,653583,"19q13.31","NM_198850",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25430",11,5,0.45,{"$nulls":3},"A有","32629A","PHYHIP","chr8:22089477","c.-320C>T(exon1)","非编码区","rs11547658",0.3,0.53,0.54,0.52,0.54,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PHYHIP",1,61,"非编码区",14200,"0.4545=5/11",null,9796,"8p21.3","NM_001099335",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25460",25,14,0.56,{"$nulls":3},"A有","32629A","PIDD","chr11:802902","c.710-11A>C(exon4)","非编码区","rs28360884",0.63,0.63,0.63,0.63,0.6,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PIDD",1,41,"非编码区",16202,"0.5600=14/25",null,55367,"11p15.5","NM_145886",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25509",218,218,1,{"$nulls":3},"A有","32629A","PIGK","chr1:77627096","c.703-6C>T(exon8)","非编码区","rs839825",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PIGK",1,230,"非编码区",16202,"1.0000=247/247",null,10026,"1p31.1","NM_005482",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25535",59,29,0.49,{"$nulls":3},"A有","32629A","PIGR","chr1:207110936","c.549A>G(exon4)","p.V183V","rs291096",0.55,0.43,0.46,0.39,0.4,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"PIGR",1,72,"同义",13203,"0.4844=31/64",null,5284,"1q31-q41","NM_002644",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25563",83,39,0.47,{"$nulls":3},"A有","32629A","PIK3C2B","chr1:204413297","c.2773-7G>A(exon19)","非编码区","rs2292459",null,0.51,0.51,0.51,0.47,0.48,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,7,0,"PIK3C2B",1,89,"非编码区",16302,"0.4184=41/98",null,5287,"1q32","NM_002646",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25624",43,20,0.47,{"$nulls":3},"A有","32629A","PIP5K1B","chr9:71509238-71509239","c.472-17(exon8)_c.472-16(exon8)insT","非编码区","rs142645474",0.087,0.21,0.23,0.2,0.24,0.25,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"PIP5K1B",1,170,"非编码区",2500,"0.4255=20/47",null,8395,"9q13","NM_003558",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v25653",93,40,0.43,{"$nulls":3},"A有","32629A","PJA2","chr5:108713970","c.1218G>A(exon4)","p.E406E","rs10042721",0.68,0.39,0.4,0.39,0.37,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PJA2",1,120,"同义",13203,"0.4216=43/102",null,9867,"5q21.3","NM_014819",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25680",39,39,1,{"$nulls":3},"A有","32629A","PKD1L2","chr16:81199520","c.3142A>G(exon19)","p.T1048A","rs12931217",0.71,0.67,0.66,0.69,0.68,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,46,0,"PKD1L2",1,88,"非同义",12220,"1.0000=47/47",null,114780,"16q23.2","NM_052892",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25748",39,39,1,{"$nulls":3},"A有","32629A","PKN1","chr19:14582468","c.2701G>A(exon22)","p.V901I","rs10846",0.25,0.8,0.82,0.78,0.79,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PKN1",1,68,"非同义",12220,"1.0000=40/40",null,5585,"19p13.12","NM_002741",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25778",68,68,1,{"$nulls":3},"A有","32629A","PLA1A","chr3:119331874","c.573C>T(exon5)","p.P191P","rs2272270",0.29,0.49,0.48,0.51,0.45,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PLA1A",1,110,"同义",13203,"1.0000=73/73",null,51365,"3q13.13-q13.2","NM_015900",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v25911",31,30,0.97,{"$nulls":3},"A有","32629A","PLEKHA6","chr1:204216601","c.1825-13C>T(exon13)","非编码区","rs4288652",0.67,0.77,0.79,0.75,0.77,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"PLEKHA6",1,59,"非编码区",16202,"0.9697=32/33",null,22874,"1q32.1","NM_014935",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v25938",55,32,0.58,{"$nulls":3},"A有","32629A","PLEKHG6","chr12:6421495","c.103G>A(exon2)","p.A35T","rs740842",0.46,0.27,0.27,0.26,0.24,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19463982,{"$nulls":3},5,null,6,0,"PLEKHG6",1,67,"非同义",12220,"0.6000=36/60",null,55200,"12p13.31","NM_001144856",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26014",105,53,0.5,{"$nulls":3},"A有","32629A","PLIN4","chr19:4512669","c.1261A>G(exon3)","p.T421A","rs55901236",0.45,0.69,0.69,0.69,0.68,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,22,0,"PLIN4",1,120,"非同义",12210,"0.5385=63/117",null,729359,"19p13.3","NM_001080400",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26040",79,79,1,{"$nulls":3},"A有","32629A","PLXDC2","chr10:20357183","c.541+15A>G(exon4)","非编码区","rs7072650",0.22,0.32,0.32,0.32,0.33,0.3,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PLXDC2",1,160,"非编码区",16203,"1.0000=90/90",null,84898,"10p12.31","NM_032812",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26070",24,12,0.5,{"$nulls":3},"A有","32629A","PLXNB2","chr22:50720181","c.3346-10G>C(exon21)","非编码区","rs28442189",0.37,0.32,0.3,0.35,0.32,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PLXNB2",1,47,"非编码区",16202,"0.4815=13/27",null,23654,"22q13.33","NM_012401",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26132",92,47,0.51,{"$nulls":3},"A有","32629A","PMS2","chr7:6022629","c.2007-7C>T(exon12)","非编码区","rs55954143",0.13,0.091,0.12,0.063,0.066,0.091,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","16472587;19132747;20205264","遗传性非息肉性结直肠癌4型（Lynch综合征）",null,614337,5,2,7,2,"PMS2",0.95,120,"非编码区",16202,"0.4808=50/104",null,5395,"7p22.2","NM_000535",null,"rs55954143|Benign|NA|NA|reviewed by expert panel|NA",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26154",2,2,1,{"$nulls":3},"A有","32629A","PNMA5","chrX:152160460","c.-138A>G(exon1)","非编码区","rs67383647",null,0.34,0.34,0.34,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"PNMA5",1,57,"非编码区",14300,"1.0000=2/2",null,114824,"Xq28","NM_001103150",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26183",14,8,0.57,{"$nulls":3},"A有","32629A","PNPLA6","chr19:7619760","c.2665-19A>C(exon24)","非编码区","rs539887",0.35,0.26,0.27,0.24,0.25,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"遗传性痉挛性截瘫39型","AR",612020,5,3,3,2,"PNPLA6",1,51,"非编码区",16202,"0.5000=8/16",null,10908,"19p13.2","NM_001166111",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26245",75,75,1,{"$nulls":3},"A有","32629A","POLE","chr12:133208979","c.6252A>G(exon45)","p.S2084S","rs5745022",0.7,0.76,0.77,0.75,0.78,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"FILS综合征（面部异形，免疫缺陷，青斑和身材矮小）","AR",615139,5,1,8,2,"POLE",1,79,"同义",13203,"1.0000=81/81",null,5426,"12q24.3","NM_006231",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26270",97,97,1,{"$nulls":3},"A有","32629A","POLR1A","chr2:86272758","c.2868C>T(exon20)","p.L956L","rs1561328",0.22,0.21,0.22,0.19,0.21,0.23,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"POLR1A",1,110,"同义",13203,"1.0000=110/110",null,25885,"2p11.2","NM_015425",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26300",90,47,0.52,{"$nulls":3},"A有","32629A","POLR2C","chr16:57496931","c.87-10G>C(exon2)","非编码区","rs223837",0.26,0.11,0.12,0.11,0.098,0.097,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"POLR2C",1,83,"非编码区",16202,"0.5258=51/97",null,5432,"16q13-q21","NM_032940",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26352",47,46,0.98,{"$nulls":3},"A有","32629A","POMT1","chr9:134397624","c.2003+13C>T(exon19)","非编码区","rs4740165",0.83,0.93,0.93,0.92,0.9,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"肌营养不良-抗肌萎缩相关糖蛋白病（先天性伴有智力低下）B型1","AR",613155,5,1,6,3,"POMT1",1,81,"非编码区",16203,"0.9792=47/48",null,10585,"9q34.1","NM_001136113",null,"rs4740165|Benign|NA|NA|criteria provided, single submitter|PubMed:23757202",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26372",62,62,1,{"$nulls":3},"A有","32629A","POPDC2","chr3:119367390","c.726A>G(exon3)","p.S242S","rs2688643",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"POPDC2",1,120,"同义",13203,"1.0000=68/68",null,64091,"3q13.33","NM_022135",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26392",229,77,0.34,{"$nulls":3},"A有","32629A","POTEC","chr18:14542931","c.215G>A(exon1)","p.C72Y","rs45554841",{"$nulls":4},0.28,0.37,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,13,0,"POTEC",1,550,"非同义",12310,"0.3068=81/264",null,388468,"18p11.21","NM_001137671",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26430",63,31,0.49,{"$nulls":3},"A有","32629A","POU1F1","chr3:87308905","c.*139T>A(exon6)","非编码区","rs4988463",0.18,0.22,0.23,0.2,0.2,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"垂体激素缺乏症1型","AD,AR",613038,5,1,2,1,"POU1F1",1,190,"非编码区",14200,"0.4857=34/70",null,5449,"3p11","NM_001122757",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26499",96,58,0.6,{"$nulls":3},"A有","32629A","PPIL1","chr6:36824399","c.243G>A(exon3)","p.Q81Q","rs2071823",0.18,0.38,0.41,0.34,0.33,0.35,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PPIL1",1,100,"同义",13203,"0.6161=69/112",null,51645,"6p21.1","NM_016059",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26525",4,3,0.75,{"$nulls":3},"A有","32629A","PPP1R12A","chr12:80328847","c.-136C>T(exon1)","非编码区","rs2305294",0.12,0.28,0.28,0.29,0.26,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PPP1R12A",1,180,"非编码区",14200,"0.7500=3/4",null,4659,"12q15-q21","NM_002480",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26555",83,41,0.49,{"$nulls":3},"A有","32629A","PPP1R3A","chr7:113518498","c.2649G>T(exon4)","p.R883S","rs1800000",0.036,0.12,0.11,0.12,0.17,0.14,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",9726244,"家族局部性脂质营养不良3型","AD",604367,3,1,5,1,"PPP1R3A",1,120,"非同义",12120,"0.4667=42/90",null,5506,"7q31.1","NM_002711","ARG883SER|\"Insulin_resistance_association_with\"|9726244",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26626",7,7,1,{"$nulls":3},"A有","32629A","PQLC1","chr18:77663863","c.*113T>C(exon6)","非编码区","rs12928",0.5,0.6,0.65,0.56,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PQLC1",1,69,"非编码区",14200,"1.0000=8/8",null,80148,"18q23","NM_025078",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26637",172,83,0.48,{"$nulls":3},"A有","32629A","PRAMEF12","chr1:12835168","c.158C>A(exon1)","p.T53K","rs17346571",0.033,0.048,0.057,0.039,0.052,0.055,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,1,0,"PRAMEF12",1,210,"非同义",12120,"0.4974=94/189",null,390999,"1p36.21","NM_001080830",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26684",210,210,1,{"$nulls":3},"A有","32629A","PRB4","chr12:11461292","c.625G>C(exon3)","p.A209P","rs1052808",0.75,0.78,0.78,0.78,0.78,0.8,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PRB4",1,230,"非同义",12220,"1.0000=232/232",null,5545,"12p13.2","NM_002723",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26751",54,28,0.52,{"$nulls":3},"A有","32629A","PREX1","chr20:47267480","c.2769T>C(exon23)","p.C923C","rs41283556",0.15,0.15,0.16,0.15,0.098,0.14,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"PREX1",1,64,"同义",13203,"0.5273=29/55",null,57580,"20q13.13","NM_020820",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26781",13,13,1,{"$nulls":3},"A有","32629A","PRICKLE2","chr3:64133350","c.816T>C(exon7)","p.D272D","rs27673",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","进行性肌阵挛性癫痫5型","AD",613832,5,1,2,1,"PRICKLE2",1,68,"同义",13203,"1.0000=14/14",null,166336,"3p14.1","NM_198859",null,"rs27673|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26805",28,8,0.29,{"$nulls":3},"A有","32629A","PRKAR1B","chr7:590229","c.984A>G(exon11)","p.A328A","rs28626752",0.049,0.14,0.13,0.15,0.14,0.19,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"PRKAR1B",1,55,"同义",13103,"0.3333=10/30",null,5575,"7p22","NM_001164761",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26831",53,28,0.53,{"$nulls":3},"A有","32629A","PRKCZ","chr1:1987993","c.264T>C(exon3)","p.D88D","rs12184",0.67,0.96,0.96,0.96,0.94,0.95,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"PRKCZ",1,83,"同义",13203,"0.5424=32/59",null,5590,"1p36.33-p36.2","NM_002744",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26886",3,2,0.67,{"$nulls":3},"A有","32629A","PRODH","chr22:18923745","c.56C>A(exon2)","p.P19Q","rs2008720",0.55,0.83,0.81,0.84,0.81,0.89,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","15662599;18408230;23910792;25569235","高脯氨酸血症1型","AR",239500,5,3,11,2,"PRODH",1,52,"非同义",12220,"0.6667=2/3",null,5625,"22q11.21","NM_016335","rs2008720|\"Hyperprolinaemia_association_with\"|15662599",{"$nulls":3},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26907",274,136,0.5,{"$nulls":3},"A有","32629A","PROSER1","chr13:39586343","c.2589C>G(exon12)","p.G863G","rs9576697",0.22,0.25,0.28,0.23,0.23,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"PROSER1",1,180,"同义",13203,"0.4783=154/322",null,80209,"13q13.3","NM_025138",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26926",30,30,1,{"$nulls":3},"A有","32629A","PRPH2","chr6:42666061","c.1013A>G(exon3)","p.D338G","rs434102",null,0.86,0.87,0.85,0.85,0.86,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害","23105016;22948568","成年型卵黄状黄斑营养不良","AD",608161,3,1,5,5,"PRPH2",1,60,"非同义",12320,"1.0000=37/37",null,5961,"6p21.2-p12.3","NM_000322","ASP338GLY|\"Retinitis_pigmentosa\"|23105016","ASP338GLY|Benign;Likely benign|NA|NA|criteria provided, multiple submitters, no conflicts|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v26984",94,94,1,{"$nulls":3},"A有","32629A","PRRC2B","chr9:134350458","c.2942C>T(exon15)","p.P981L","rs10751478",0.77,0.96,0.96,0.96,0.93,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PRRC2B",1,78,"非同义",12220,"1.0000=101/101",null,84726,"9q34.13","NM_013318",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27008",29,21,0.72,{"$nulls":3},"A有","32629A","PRRT4","chr7:127992437","c.1173G>C(exon6)","p.R391R","rs1651945",0.76,0.57,0.53,0.6,0.56,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"PRRT4",1,34,"同义",13203,"0.7333=22/30",null,401399,"7q32.1","NM_001174164",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27031",12,4,0.33,{"$nulls":3},"A有","32629A","PRSS22","chr16:2903081","c.*13C>T(exon6)","非编码区","rs3743944",0.52,0.48,0.52,0.44,0.46,0.55,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PRSS22",1,58,"非编码区",14200,"0.3571=5/14",null,64063,"16p13.3","NM_022119",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27103",21,21,1,{"$nulls":3},"A有","32629A","PRX","chr19:40900865","c.3394G>A(exon7)","p.G1132R","rs268674",0.97,0.98,0.98,0.98,0.98,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","遗传性运动感觉性神经病III型","AD,AR",145900,5,1,1,2,"PRX",1,42,"非同义",12220,"1.0000=21/21",null,57716,"19q13.2","NM_181882",null,"GLY1132ARG|Likely benign|NA|NA|no assertion criteria provided|NA;rs268674|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27118",34,17,0.5,{"$nulls":3},"A有","32629A","PSD3","chr8:18729496","c.878C>T(exon3)","p.P293L","rs13263453",0.21,0.3,0.3,0.31,0.31,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"PSD3",1,130,"非同义",12220,"0.4762=20/42",null,23362,"8p21.3","NM_015310",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27149",216,106,0.49,{"$nulls":3},"A有","32629A","PSG5","chr19:43680147","c.584G>A(exon3)","p.R195Q","rs17856402",0.33,0.59,0.62,0.55,0.46,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"PSG5",1,350,"非同义",12220,"0.5042=121/240",null,5673,"19q13.2","NM_002781",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27216",140,69,0.49,{"$nulls":3},"A有","32629A","PSME4","chr2:54127041","c.3399G>A(exon29)","p.Q1133Q","rs805423",0.61,0.75,0.7,0.79,0.73,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"PSME4",1,190,"同义",13203,"0.5150=86/167",null,23198,"2p16.2","NM_014614",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27248",71,23,0.32,{"$nulls":3},"A有","32629A","PSPH","chr7:56088907","c.-2C>G(exon4)","非编码区","rs201445503",{"$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,614023,3,2,16,1,"PSPH",1,130,"非编码区",14300,"0.3012=25/83",null,5723,"7p11.2","NM_004577",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27269",138,83,0.6,{"$nulls":3},"A有","32629A","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,"基底细胞癌（易感）1型",null,605462,5,2,5,3,"PTCH1",1,94,"非编码区",16202,"0.5960=90/151",null,5727,"9q22.3","NM_001083602",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27288",55,31,0.56,{"$nulls":3},"A有","32629A","PTCHD3","chr10:27702624","c.556C>A(exon1)","p.Q186K","rs77473776",0.091,0.26,0.21,0.31,0.29,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"PTCHD3",1,110,"非同义",12220,"0.5667=34/60",null,374308,"10p12.1","NM_001034842",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27344",14,7,0.5,{"$nulls":3},"A有","32629A","PTPLB","chr3:123303824","c.51T>C(exon1)","p.G17G","rs112371142",0.19,0.4,0.38,0.42,0.33,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PTPLB",1,190,"同义",13203,"0.5000=7/14",null,201562,"3q21.1","NM_198402",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27365",44,44,1,{"$nulls":3},"A有","32629A","PTPN6","chr12:7065635","c.978T>C(exon9)","p.G326G","rs2110072",null,1,1,1,1,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"PTPN6",1,68,"同义",13303,"1.0000=48/48",null,5777,"12p13","NM_080549",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27392",108,108,1,{"$nulls":3},"A有","32629A","PTPRE","chr10:129854369","c.421-18T>C(exon7)","非编码区","rs4424589",0.86,0.84,0.82,0.86,null,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"PTPRE",1,110,"非编码区",16202,"1.0000=124/124",null,5791,"10q26","NM_006504",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27463",105,38,0.36,{"$nulls":3},"A有","32629A","PTPRZ1","chr7:121653557","c.4457G>A(exon12)","p.R1486K",{"$nulls":7},"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"易感型幽门螺杆菌感染",null,600263,3,2,2,1,"PTPRZ1",1,160,"非同义",12420,"0.3805=43/113",null,5803,"7q31.3","NM_002851",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27489",82,36,0.44,{"$nulls":3},"A有","32629A","PVALB","chr22:37196971","c.305-9G>T(exon5)","非编码区","rs2001063",0.5,0.67,0.67,0.67,0.71,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"PVALB",1,53,"非编码区",16202,"0.4353=37/85",null,5816,"22q13.1","NM_002854",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27516",14,5,0.36,{"$nulls":3},"A有","32629A","PXDNL","chr8:52321843","c.2341C>G(exon17)","p.R781G","rs11992240",0.14,0.28,0.3,0.26,0.3,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"PXDNL",1,130,"非同义",12210,"0.3333=6/18",null,137902,"8q11.22-q11.23","NM_144651",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27548",85,85,1,{"$nulls":3},"A有","32629A","PYHIN1","chr1:158946629-158946630","c.*144(exon9)_c.*145(exon9)insATATATGTAT","非编码区","rs145608153",{"$nulls":4},0.0031,null,"纯合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"PYHIN1",1,220,"非编码区",2430,"1.0000=103/103",null,149628,"1q23.1","NM_152501",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27615",60,60,1,{"$nulls":3},"A有","32629A","RAB11B","chr19:8468337","c.552C>T(exon5)","p.R184R","rs2230876",0.33,0.53,0.54,0.52,0.54,0.52,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RAB11B",1,57,"同义",13203,"1.0000=69/69",null,9230,"19p13.2","NM_004218",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27645",32,18,0.56,{"$nulls":3},"A有","32629A","RAB36","chr22:23503121","c.873G>A(exon10)","p.S291S","rs5759611",0.23,0.35,0.39,0.31,0.33,0.36,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RAB36",1,53,"同义",13203,"0.5833=21/36",null,9609,"22q11.22","NM_004914",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27669",5,4,0.8,{"$nulls":3},"A有","32629A","RAB40C","chr16:677854","c.*232G>T(exon7)","非编码区","rs15564",0.54,0.62,0.6,0.63,0.62,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RAB40C",1,71,"非编码区",14200,"0.8333=5/6",null,57799,"16p13.3","NM_001172663",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27740",45,45,1,{"$nulls":3},"A有","32629A","RAD51C","chr17:56769979","c.-26C>T(exon1)","非编码区","rs12946397",0.16,0.18,0.19,0.17,0.18,0.17,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",25343521,"家族性乳腺癌-卵巢癌易感3型",null,613399,5,1,1,2,"RAD51C",1,140,"非编码区",14200,"1.0000=49/49",null,5889,"17q25.1","NM_058216",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27764",47,47,1,{"$nulls":3},"A有","32629A","RAG1","chr11:36595600","c.746A>G(exon2)","p.H249R","rs3740955",0.61,0.78,0.75,0.81,0.76,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",22424479,"严重巨细胞病毒感染伴自身免疫性贫血",null,609889,5,1,2,4,"RAG1",1,72,"非同义",12230,"1.0000=49/49",null,5896,"11p13","NM_000448","HIS249ARG|\"Immunodeficiency_severe_combined\"|22424479","ARG249HIS|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"]
["32629A(745)v27789",2,2,1,{"$nulls":3},"A有","32629A","RALY","chr20:32668244","c.*533A>G(exon10)","非编码区","rs4911148",0.55,0.75,0.73,0.77,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RALY",1,65,"非编码区",14200,"1.0000=2/2",null,22913,"20q11.21-q11.23","NM_016732",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27855",6,5,0.83,{"$nulls":3},"A有","32629A","RASGEF1C","chr5:179528359","c.*142C>G(exon14)","非编码区","rs113499659",null,0.48,0.49,0.47,0.53,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,6,0,"RASGEF1C",1,68,"非编码区",14300,"0.8333=5/6",null,255426,"5q35.3","NM_175062",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27885",8,4,0.5,{"$nulls":3},"A有","32629A","RASSF5","chr1:206730691","c.-211G>C(exon1)","非编码区","rs67223538",0.23,0.24,0.21,0.26,0.27,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RASSF5",1,73,"非编码区",14200,"0.5000=4/8",null,83593,"1q32.1","NM_182665",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27925",11,11,1,{"$nulls":3},"A有","32629A","RBM11","chr21:15599766","c.*152G>A(exon5)","非编码区","rs3761316",0.13,0.27,0.3,0.25,0.28,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RBM11",1,210,"非编码区",14200,"1.0000=15/15",null,54033,"21q11","NM_144770",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v27988",38,10,0.26,{"$nulls":3},"A有","32629A","RBMX","chrX:135956218","c.*83C>T(exon9)","非编码区","rs75376102",{"$nulls":6},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,9,0,"RBMX",1,180,"非编码区",14300,"0.2955=13/44",null,27316,"Xq26.3","NM_002139",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28006",5,5,1,{"$nulls":3},"A有","32629A","RCBTB1","chr13:50107973","c.*285C>G(exon13)","非编码区","rs3186012",0.42,0.45,0.45,0.45,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"酒精依赖症",null,103780,5,1,5,1,"RCBTB1",1,110,"非编码区",14200,"1.0000=6/6",null,55213,"13q14","NM_018191",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28036",62,62,1,{"$nulls":3},"A有","32629A","RDH13","chr19:55570574","c.135T>C(exon2)","p.G45G","rs1654447",0.86,0.98,0.96,1,0.97,0.98,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RDH13",1,65,"同义",13203,"1.0000=75/75",null,112724,"19q13.42","NM_001145971",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28055",18,18,1,{"$nulls":3},"A有","32629A","RECQL5","chr17:73627565","c.1413T>C(exon9)","p.Y471Y","rs820197",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"RECQL5",1,45,"同义",13203,"1.0000=19/19",null,9400,"17q25","NM_004259",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28115",51,23,0.45,{"$nulls":3},"A有","32629A","RET","chr10:43606856","c.1465G>A(exon7)","p.D489N","rs9282834",3.8E-3,0.014,0.0048,0.024,0.026,0.027,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害","24728327;23114404;20532249","先天性中枢性肺换气不足综合征","AD",209880,3,1,7,7,"RET",1,72,"非同义",12120,"0.4828=28/58",null,5979,"10q11.2","NM_020975","ASP489ASN|\"Hirschsprung_disease_association_with\"|23114404","ASP489ASN|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24728327",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28107",7,5,0.71,{"$nulls":3},"A有","32629A","RETN","chr19:7735297","c.*62G>A(exon4)","非编码区","rs3745368",0.091,0.16,0.16,0.17,0.16,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","12629116;15517149;17357083;19074981;19727657","非胰岛素依赖型糖尿病(易感)","AD",125853,5,1,2,1,"RETN",1,32,"非编码区",14200,"0.7143=5/7",null,56729,"19p13.2","NM_020415","rs3745368|\"Insulin_resistance_hypertension_reduced_risk_association\"|12629116",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28142",71,28,0.39,{"$nulls":3},"A有","32629A","RFNG","chr17:80007897","c.574-15C>A(exon5)","非编码区","rs9915742",0.55,0.31,0.27,0.34,0.29,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"RFNG",0.99,40,"非编码区",16202,"0.3836=28/73",null,5986,"17q25","NM_002917",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28209",58,29,0.5,{"$nulls":3},"A有","32629A","RGPD8","chr2:113147159","c.3363C>T(exon20)","p.P1121P","rs62157473",{"$nulls":4},0.19,0.25,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"RGPD8",1,590,"同义",13303,"0.4928=34/69",null,727851,"2q13","NM_001164463",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28239",18,18,1,{"$nulls":3},"A有","32629A","RGS3","chr9:116359339","c.*106T>C(exon26)","非编码区","rs1051013",0.84,1,0.99,1,0.98,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RGS3",0.98,75,"非编码区",14200,"1.0000=22/22",null,5998,"9q32","NM_144488",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28265",102,102,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},4,null,1,0,"RHNO1",1,110,"同义",13303,"1.0000=117/117",null,83695,"12p13.33","NM_001257097",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28330",26,26,1,{"$nulls":3},"A有","32629A","RIN1","chr11:66101974","c.1285+11G>A(exon6)","非编码区","rs3016317",0.75,0.84,0.85,0.83,0.8,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RIN1",1,35,"非编码区",16203,"1.0000=26/26",null,9610,"11q13.2","NM_004292",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28360",13,13,1,{"$nulls":3},"A有","32629A","RLBP1","chr15:89753349","c.*167T>G(exon9)","非编码区","rs834",0.92,1,1,1,0.99,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"白点状视网膜变性","AD,AR",136880,5,1,1,3,"RLBP1",1,79,"非编码区",14200,"1.0000=14/14",null,6017,"15q26","NM_000326",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28403",31,31,1,{"$nulls":3},"A有","32629A","RNF113B","chr13:98829176","c.315A>G(exon1)","p.P105P","rs628778",0.75,0.95,0.95,0.96,0.94,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RNF113B",1,70,"同义",13203,"1.0000=37/37",null,140432,"13q32.2","NM_178861",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28454",25,9,0.36,{"$nulls":3},"A有","32629A","RNF183","chr9:116059733","c.*153T>A(exon2)","非编码区","rs3750535",0.46,0.42,0.41,0.44,0.36,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RNF183",1,74,"非编码区",14200,"0.3448=10/29",null,138065,"9q32","NM_145051",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28478",41,25,0.61,{"$nulls":3},"A有","32629A","RNF213","chr17:78337058","c.11512G>C(exon40)","p.V3838L","rs35332090",0.15,0.019,0.029,0.0097,0.017,0.033,"杂合","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,607151,5,2,20,1,"RNF213",1,81,"非同义",12220,"0.6364=28/44",null,57674,"17q25.3","NM_001256071",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28511",37,37,1,{"$nulls":3},"A有","32629A","RNFT2","chr12:117217141","c.870T>C(exon7)","p.A290A","rs4767452",0.87,0.92,0.92,0.92,0.93,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"RNFT2",1,56,"同义",13203,"1.0000=38/38",null,84900,"12q24.22","NM_001109903",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28541",25,14,0.56,{"$nulls":3},"A有","32629A","ROR2","chr9:94485928","c.*16G>A(exon9)","非编码区","rs2230578",0.76,0.91,0.94,0.88,0.88,0.93,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","短指症B1型","AD",113000,5,1,2,2,"ROR2",1,77,"非编码区",14200,"0.5385=14/26",null,4920,"9q22","NM_004560",null,"rs2230578|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28594",21,10,0.48,{"$nulls":3},"A有","32629A","RPGRIP1","chr14:21769193","c.287C>A(exon3)","p.P96Q","rs1040904",0.058,0.046,0.052,0.039,0.036,0.035,"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13型",null,608194,5,2,2,2,"RPGRIP1",1,120,"非同义",12220,"0.4800=12/25",null,57096,"14q11","NM_020366",null,"PRO96GLN|not provided|NA|NA|no assertion provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28625",58,30,0.52,{"$nulls":3},"A有","32629A","RPL37A","chr2:217363597","c.-1C>T(exon1)","非编码区","rs28365967",0.075,0.18,0.17,0.19,0.17,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"RPL37A",1,140,"非编码区",14200,"0.4918=30/61",null,6168,"2q35","NM_000998",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28654",36,21,0.58,{"$nulls":3},"A有","32629A","RPS27L","chr15:63446012","c.*219C>T(exon4)","非编码区","rs28637229",0.23,0.48,0.45,0.51,0.48,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RPS27L",1,150,"非编码区",14200,"0.5946=22/37",null,51065,"15q22.2","NM_015920",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28722",117,56,0.48,{"$nulls":3},"A有","32629A","RRH","chr4:110754499","c.297+14T>C(exon2)","非编码区","rs12513108",0.3,0.44,0.47,0.42,0.44,0.45,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"RRH",1,170,"非编码区",16203,"0.4621=61/132",null,10692,"4q25","NM_006583",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28743",61,26,0.43,{"$nulls":3},"A有","32629A","RRP12","chr10:99148151","c.890-15T>C(exon8)","非编码区","rs2275090",0.4,0.27,0.26,0.28,null,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"RRP12",1,67,"非编码区",16202,"0.4627=31/67",null,23223,"10q24.1","NM_015179",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28776",32,32,1,{"$nulls":3},"A有","32629A","RSAD2","chr2:7017903","c.-29A>G(exon1)","非编码区","rs10182815",0.95,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RSAD2",1,140,"非编码区",14200,"1.0000=37/37",null,91543,"2p25.2","NM_080657",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28847",10,7,0.7,{"$nulls":3},"A有","32629A","RUFY1","chr5:178986987","c.-53C>T(exon1)","非编码区","rs12658664",0.5,0.76,0.76,0.76,0.76,0.75,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"RUFY1",1,100,"非编码区",14200,"0.7000=7/10",null,80230,"5q35.3","NM_001040451",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28876",69,69,1,{"$nulls":3},"A有","32629A","RYK","chr3:133894761","c.1422+13A>C(exon12)","非编码区","rs28622917",0.15,0.33,0.31,0.34,0.31,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"RYK",1,170,"非编码区",16203,"1.0000=78/78",null,6259,"3q22","NM_001005861",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28887",17,12,0.71,{"$nulls":3},"A有","32629A","RYR1","chr19:38985104","c.6387C>T(exon39)","p.D2129D","rs117886618",0.0032,0.022,0.014,0.029,0.017,0.02,"杂合","未知","预测范围之外的同义突变","11241852;12434264","恶性高热易感1","AD",145600,4,1,11,3,"RYR1",0.99,61,"同义",13103,"0.7143=15/21",null,6261,"19q13.1","NM_000540","rs117886618|\"Malignant_hyperthermia\"|11241852","ASP2129GLU|not provided|NA|NA|no assertion provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28913",48,48,1,{"$nulls":3},"A有","32629A","RYR3","chr15:33954652","c.4921C>T(exon35)","p.R1641C","rs4780144",0.84,0.9,0.92,0.87,0.92,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"RYR3",1,130,"非同义",12220,"1.0000=54/54",null,6263,"15q14-q15","NM_001036",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v28962",113,45,0.4,{"$nulls":3},"A有","32629A","SAG","chr2:234255547","c.1207G>A(exon16)","p.V403I","rs1046974",0.3,0.44,0.41,0.46,0.43,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","先天性静止性夜盲症Oguchi1型","AR",258100,5,3,2,2,"SAG",1,110,"非同义",12220,"0.4113=51/124",null,6295,"2q37.1","NM_000541",null,"VAL403ILE|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"]
["32629A(745)v28983",107,52,0.49,{"$nulls":3},"A有","32629A","SAMD7","chr3:169644710","c.660G>C(exon6)","p.E220D","rs10513680",0.15,0.18,0.15,0.2,0.16,0.15,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SAMD7",1,140,"非同义",12220,"0.4828=56/116",null,344658,"3q26.2","NM_182610",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29013",42,42,1,{"$nulls":3},"A有","32629A","SAR1B","chr5:133942492","c.*148A>G(exon8)","非编码区","rs7728741",0.22,0.31,0.3,0.32,0.33,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"乳糜微粒潴留病","AR",246700,5,1,2,1,"SAR1B",1,180,"非编码区",14200,"1.0000=48/48",null,51128,"5q31.1","NM_001033503",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29080",105,50,0.48,{"$nulls":3},"A有","32629A","SCAI","chr9:127757310","c.1314-16G>A(exon15)","非编码区","rs6478690",0.68,0.65,0.68,0.61,0.6,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SCAI",1,200,"非编码区",16202,"0.4959=60/121",null,286205,"9q33.3","NM_173690",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29110",39,39,1,{"$nulls":3},"A有","32629A","SCARF1","chr17:1542190","c.1274C>T(exon8)","p.A425V","rs2272011",0.67,0.87,0.88,0.87,0.87,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SCARF1",0.99,34,"非同义",12210,"1.0000=39/39",null,8578,"17p13.3","NM_145350",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29140",25,25,1,{"$nulls":3},"A有","32629A","SCGN","chr6:25701718","c.*155G>A(exon11)","非编码区","rs11794",0.35,0.72,0.74,0.7,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SCGN",1,170,"非编码区",14200,"1.0000=26/26",null,10590,"6p22.3-p22.1","NM_006998",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29188",56,24,0.43,{"$nulls":3},"A有","32629A","SCN1B","chr19:35524944","c.749G>C(exon3)","p.R250T","rs67486287",0.12,0.16,0.17,0.15,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","23861362;21703448","Brugada综合征5型",null,612838,5,2,5,3,"SCN1B",1,61,"非同义",12220,"0.4098=25/61",null,6324,"19q13.1","NM_199037","ARG250THR|\"Epilepsy_idiopathic\"|21703448","ARG250THR|Benign|OMIM:115000|NA|criteria provided, multiple submitters, no conflicts|PubMed:23861362",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29202",126,57,0.45,{"$nulls":3},"A有","32629A","SCN4A","chr17:62019103","c.4539C>A(exon24)","p.I1513I","rs56342400",0.14,0.13,0.12,0.15,0.12,0.097,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23757202,"乙酰唑胺反应性重症肌无力综合症",null,614198,5,2,5,5,"SCN4A",1,80,"同义",13203,"0.4589=67/146",null,6329,"17q23.3","NM_000334",null,"rs56342400|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:23757202",null,null,"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29208",2,2,1,{"$nulls":3},"A有","32629A","SCN5A","chr3:38590850","c.*962T>A(exon28)","非编码区","rs4073797",0.49,0.56,0.57,0.56,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"婴儿猝死综合征","AR",272120,5,1,6,8,"SCN5A",1,97,"非编码区",14200,"1.0000=3/3",null,6331,"3p21","NM_198056",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29223",86,52,0.6,{"$nulls":3},"A有","32629A","SCN9A","chr2:167137119","c.2072-14C>T(exon14)","非编码区","rs6432893",0.55,0.3,0.27,0.33,0.32,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","常染色体隐性天生无疼痛","AR",243000,5,3,12,5,"SCN9A",1,200,"非编码区",16202,"0.6022=56/93",null,6335,"2q24","NM_002977",null,"rs6432893|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29229",275,128,0.47,{"$nulls":3},"A有","32629A","SCN9A","chr2:167163043","c.444A>G(exon4)","p.P148P","rs9646771",0.64,0.41,0.42,0.41,0.37,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","常染色体隐性天生无疼痛","AR",243000,5,3,12,5,"SCN9A",1,200,"同义",13203,"0.4566=142/311",null,6335,"2q24","NM_002977",null,"rs9646771|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"]
["32629A(745)v29242",71,36,0.51,{"$nulls":3},"A有","32629A","SCNN1G","chr16:23200761","c.387T>C(exon3)","p.Y129Y","rs5734",0.24,0.18,0.2,0.16,0.17,0.17,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"支气管扩张症伴或不伴汗氯化物升高3型","AD",613071,5,1,4,3,"SCNN1G",1,86,"同义",13203,"0.5063=40/79",null,6340,"16p12","NM_001039",null,"rs5734|Benign|NA|NA|criteria provided, single submitter|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29264",132,132,1,{"$nulls":3},"A有","32629A","SCTR","chr2:120199140","c.1176T>C(exon12)","p.N392N","rs1126839",0.87,0.91,0.9,0.91,0.91,0.91,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SCTR",1,85,"同义",13203,"1.0000=143/143",null,6344,"2q14.1","NM_002980",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29310",50,50,1,{"$nulls":3},"A有","32629A","SDHA","chr5:230980","c.771-11A>G(exon7)","非编码区","rs2288461",0.86,0.68,0.68,0.67,0.7,0.66,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"扩张型心肌病1GG型",null,613642,5,1,2,4,"SDHA",1,110,"非编码区",16202,"1.0000=53/53",null,6389,"5p15","NM_004168",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29339",31,17,0.55,{"$nulls":3},"A有","32629A","SDSL","chr12:113875926","c.*42G>A(exon9)","非编码区",{"$nulls":7},"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"SDSL",1,59,"非编码区",14400,"0.6000=21/35",null,113675,"12q24.13","NM_138432",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29371",2,2,1,{"$nulls":3},"A有","32629A","SEC22A","chr3:122992728-122992729","c.*2159(exon7)_c.*2160(exon7)insTTAA","非编码区","rs10700934",0.99,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SEC22A",1,150,"非编码区",2420,"1.0000=2/2",null,26984,"3q21.1","NM_012430",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29436",75,75,1,{"$nulls":3},"A有","32629A","SEMA4F","chr2:74902872","c.1483-4A>G(exon12)","非编码区","rs363609",0.53,0.81,0.8,0.83,0.8,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SEMA4F",1,84,"非编码区",16202,"1.0000=84/84",null,10505,"2p13.1","NM_004263",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29466",266,266,1,{"$nulls":3},"A有","32629A","SENP6","chr6:76369054","c.627A>G(exon8)","p.R209R","rs507662",0.9,0.85,0.86,0.84,0.9,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SENP6",1,220,"同义",13203,"1.0000=292/292",null,26054,"6q13-q14.3","NM_015571",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29492",74,74,1,{"$nulls":3},"A有","32629A","SEPT8","chr5:132098242","c.630T>C(exon5)","p.N210N","rs30510",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"SEPT8",0,0,"同义",13203,"1.0000=82/82",null,23176,"5q31","NM_015146",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29551",106,106,1,{"$nulls":3},"A有","32629A","SERPINB13","chr18:61264298","c.877G>A(exon8)","p.G293S","rs1020694",0.86,0.87,0.88,0.86,0.88,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SERPINB13",1,130,"非同义",12220,"1.0000=114/114",null,5275,"18q21.3-q22","NM_012397",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29584",95,47,0.49,{"$nulls":3},"A有","32629A","SESN3","chr11:94908658","c.1392+4C>A(exon9)","非编码区","rs11021065",0.26,0.26,0.24,0.28,0.27,0.28,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SESN3",1,150,"非编码区",16202,"0.4649=53/114",null,143686,"11q21","NM_144665",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v29667",81,81,1,{"$nulls":3},"A有","32629A","SFSWAP","chr12:132209933-132209934","c.607-17(exon5)_c.607-16(exon5)delTG","非编码区","rs138640311",0.32,0.44,0.42,0.46,0.091,0.45,"纯合","未知","内含子突变",{"$nulls":4},4,null,6,0,"SFSWAP",0.95,120,"非编码区",2500,"1.0000=88/88",null,6433,"12q24.33","NM_001261411",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29697",14,14,1,{"$nulls":3},"A有","32629A","SGCA","chr17:48252804","c.*6T>C(exon9)","非编码区","rs2696288",null,1,1,1,1,1,"纯合","未知","UTR突变可能影响蛋白翻译",18414213,"肢带型肌营养不良症2D型","AR",608099,3,1,1,1,"SGCA",1,59,"非编码区",14300,"1.0000=16/16",null,6442,"17q21","NM_000023",null,"rs2696288|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"]
["32629A(745)v29722",172,172,1,{"$nulls":3},"A有","32629A","SGPL1","chr10:72619205","c.564C>T(exon7)","p.I188I","rs827255",0.98,1,1,1,0.99,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SGPL1",1,130,"同义",13203,"1.0000=180/180",null,8879,"10q21","NM_003901",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v29801",116,52,0.45,{"$nulls":3},"A有","32629A","SH3RF1","chr4:170077789","c.435T>C(exon3)","p.Y145Y","rs10518039",0.27,0.096,0.11,0.083,0.11,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SH3RF1",1,94,"同义",13203,"0.4252=54/127",null,57630,"4q32.3","NM_020870",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v29836",96,47,0.49,{"$nulls":3},"A有","32629A","SHB","chr9:37919743","c.*75A>G(exon6)","非编码区","rs2281784",0.052,0.096,0.1,0.092,0.1,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"SHB",1,51,"非编码区",14200,"0.4821=54/112",null,6461,"9p13.2","NM_003028",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v30086",19,19,1,{"$nulls":3},"A有","32629A","SLC13A1","chr7:122755445","c.*127T>C(exon15)","非编码区","rs6466854",0.96,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC13A1",1,220,"非编码区",14200,"1.0000=21/21",null,6561,"7q31.32","NM_022444",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30116",238,238,1,{"$nulls":3},"A有","32629A","SLC15A5","chr12:16347308","c.1563C>T(exon8)","p.N521N","rs3942536",0.57,0.72,0.71,0.73,0.71,0.67,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"SLC15A5",1,180,"同义",13203,"1.0000=285/285",null,729025,"12p12.3","NM_001170798",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30175",3,2,0.67,{"$nulls":3},"A有","32629A","SLC1A7","chr1:53553485","c.*196T>C(exon11)","非编码区","rs1288399",0.67,0.71,0.72,0.71,0.7,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SLC1A7",1,66,"非编码区",14200,"0.6667=2/3",null,6512,"1p32.3","NM_006671",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30201",12,6,0.5,{"$nulls":3},"A有","32629A","SLC22A16","chr6:110797713-110797714","c.53+11(exon1)_c.53+12(exon1)insAGGGGTG","非编码区","rs367754468",{"$nulls":5},0.78,"杂合","未知","内含子突变",{"$nulls":4},4,null,6,0,"SLC22A16",1,130,"非编码区",2500,"0.8571=6/7",null,85413,"6q22.1|6q21-q22.1","NM_033125",{"$nulls":4},"位于基因组单拷贝区域+简单重复结构","非阳性"]
["32629A(745)v30223",215,215,1,{"$nulls":3},"A有","32629A","SLC22A24","chr11:62902172","c.471T>G(exon2)","p.L157L","rs1939782",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"SLC22A24",1,200,"同义",13203,"1.0000=257/257",null,283238,"11q12.3","NM_001136506",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30255",97,97,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,1,0,"SLC23A1",1,85,"非同义",12230,"1.0000=109/109",null,9963,"5q31.2","NM_152685",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30314",175,72,0.41,{"$nulls":3},"A有","32629A","SLC25A30","chr13:45978486","c.369T>G(exon5)","p.I123M","rs200588795",0.0004,0.0024,0,0.0049,0.0022,0.0032,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,3,0,"SLC25A30",1,150,"非同义",12120,"0.4343=86/198",null,253512,"13q14.13","NM_001010875",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30343",160,42,0.26,{"$nulls":3},"A有","32629A","SLC25A5","chrX:118603747","c.235A>T(exon2)","p.I79F","rs141428607",{"$nulls":4},0.37,0.048,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,22,0,"SLC25A5",1,100,"非同义",12310,"0.2660=50/188",null,292,"Xq24","NM_001152",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30371",85,85,1,{"$nulls":3},"A有","32629A","SLC26A2","chr5:149360877","c.1721T>C(exon3)","p.I574T","rs30832",{"$nulls":4},1,1,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",11241838,"多发性骨骺发育不良4型","AR",226900,3,1,1,4,"SLC26A2",1,98,"非同义",12320,"1.0000=97/97",null,1836,"5q31-q34","NM_000112","rs30832|\"Diastrophic_dysplasia\"|11241838","ILE574THR|Benign|NA|NA|criteria provided, single submitter|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30433",33,22,0.67,{"$nulls":3},"A有","32629A","SLC2A7","chr1:9074861","c.782G>A(exon7)","p.R261Q","rs12402973",0.095,0.16,0.19,0.12,0.13,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"SLC2A7",1,87,"非同义",12220,"0.6765=23/34",null,155184,"1p36.2","NM_207420",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30462",49,26,0.53,{"$nulls":3},"A有","32629A","SLC34A1","chr5:176813404","c.389-20C>T(exon5)","非编码区","rs3812036",0.17,0.16,0.13,0.19,0.18,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肾结石伴骨质疏松症1型","AD",612286,5,1,2,2,"SLC34A1",1,42,"非编码区",16202,"0.5741=31/54",null,6569,"5q35","NM_003052",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30486",63,63,1,{"$nulls":3},"A有","32629A","SLC35F1","chr6:118475798","c.349+15G>A(exon2)","非编码区","rs205966",0.76,0.42,0.39,0.46,0.51,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"SLC35F1",1,120,"非编码区",16203,"1.0000=67/67",null,222553,"6q22.31","NM_001029858",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30566",33,33,1,{"$nulls":3},"A有","32629A","SLC39A13","chr11:47431728","c.83A>G(exon2)","p.E28G","rs2010519",0.94,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Ehlers-Danlos样综合征","AR",612350,5,1,4,1,"SLC39A13",1,47,"非同义",12230,"1.0000=36/36",null,91252,"11p11.2","NM_152264",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v30625",12,8,0.67,{"$nulls":3},"A有","32629A","SLC45A4","chr8:142221414","c.*127C>T(exon8)","非编码区","rs3739240",0.66,0.81,0.82,0.79,0.77,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"SLC45A4",1,59,"非编码区",14200,"0.6154=8/13",null,57210,"8q24.3","NM_001080431",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v30701",2,2,1,{"$nulls":3},"A有","32629A","SLC5A12","chr11:26692193","c.*456T>C(exon15)","非编码区","rs6484242",0.32,0.44,0.5,0.39,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"SLC5A12",1,170,"非编码区",14200,"1.0000=2/2",null,159963,"11p14.2","NM_178498",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30727",70,38,0.54,{"$nulls":3},"A有","32629A","SLC5A9","chr1:48697226","c.695T>C(exon7)","p.M232T","rs12047252",0.074,0.27,0.29,0.25,0.29,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"SLC5A9",1,98,"非同义",12220,"0.5641=44/78",null,200010,"1p33","NM_001135181",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v30756",38,38,1,{"$nulls":3},"A有","32629A","SLC6A2","chr16:55730124","c.1148-13A>C(exon9)","非编码区","rs5568",0.25,0.28,0.24,0.33,0.29,0.28,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","16380908;18937309;20863575","直立不耐受",null,604715,5,1,2,1,"SLC6A2",0.97,80,"非编码区",16202,"1.0000=39/39",null,6530,"16q12.2","NM_001172501",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v30847",133,63,0.47,{"$nulls":3},"A有","32629A","SLC9C1","chr3:111996726","c.319-19T>C(exon5)","非编码区","rs6791182",0.19,0.21,0.22,0.2,0.21,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,13,0,"SLC9C1",1,230,"非编码区",16202,"0.4828=70/145",null,285335,"3q13.2","NM_183061",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v32304",36,14,0.39,{"$nulls":3},"A有","32629A","SYNE2","chr14:64681193","c.19333+5C>T(exon106)","非编码区","rs1152590",0.58,0.69,0.71,0.67,0.69,0.7,"杂合","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",612999,5,1,16,1,"SYNE2",1,160,"非编码区",16202,"0.3684=14/38",null,23224,"14q23.2","NM_182914",null,"rs1152590|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"]
["32629A(745)v32323",102,46,0.45,{"$nulls":3},"A有","32629A","SYNJ2BP","chr14:70839635","c.*73G>T(exon4)","非编码区","rs3742916",0.029,0.11,0.11,0.11,0.13,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"SYNJ2BP",1,150,"非编码区",14100,"0.4211=48/114",null,55333,"14q24.2","NM_018373",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32358",12,6,0.5,{"$nulls":3},"A有","32629A","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",1,97,"非编码区",14300,"0.4667=7/15",null,83849,"10q11.1","NM_031912",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32419",125,69,0.55,{"$nulls":3},"A有","32629A","TACC2","chr10:123970722","c.6782T>A(exon9)","p.L2261H","rs2295876",0.089,0.14,0.14,0.13,0.12,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",16385451,{"$nulls":3},5,null,14,0,"TACC2",1,93,"非同义",12210,"0.5441=74/136",null,10579,"10q26","NM_206862",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32430",84,38,0.45,{"$nulls":3},"A有","32629A","TADA3","chr3:9828676","c.810+14C>G(exon6)","非编码区","rs7621556",0.3,0.55,0.57,0.54,0.57,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TADA3",1,61,"非编码区",16203,"0.4086=38/93",null,10474,"3p25.3","NM_133480",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v32539",81,81,1,{"$nulls":3},"A有","32629A","TAS2R10","chr12:10978248","c.621G>A(exon1)","p.M207I","rs142507813",3.8E-3,0.026,0.029,0.024,0.033,0.026,"纯合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,2,0,"TAS2R10",1,110,"非同义",12110,"1.0000=87/87",null,50839,"12p13","NM_023921",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32569",342,109,0.32,{"$nulls":3},"A有","32629A","TAS2R31","chr12:11182998","c.*7G>A(exon1)","非编码区","rs200315131",{"$nulls":4},0.48,0.46,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,20,0,"TAS2R31",1,320,"非编码区",14300,"0.3211=123/383",null,259290,"12p13.2","NM_176885",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32598",109,108,0.99,{"$nulls":3},"A有","32629A","TAS2R42","chr12:11338781","c.763G>T(exon1)","p.G255W","rs1669413",0.76,0.96,0.95,0.97,0.97,0.97,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"TAS2R42",1,140,"非同义",12220,"0.9919=123/124",null,353164,"12p13","NM_181429",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32625",4,3,0.75,{"$nulls":3},"A有","32629A","TAS2R43","chr12:11244323","c.506A>G(exon1)","p.K169R","rs201365712",{"$nulls":4},0.089,0.0044,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,56,0,"TAS2R43",1,33,"非同义",12320,"0.8000=4/5",null,259289,"12p13.2","NM_176884",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32691",3,2,0.67,{"$nulls":3},"A有","32629A","TBC1D13","chr9:131570538","c.*380C>T(exon12)","非编码区","rs570079570",1E-3,0.0072,0.014,0,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"TBC1D13",1,78,"非编码区",14100,"0.6667=2/3",null,54662,"9q34.11","NM_018201",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32729",8,3,0.38,{"$nulls":3},"A有","32629A","TBC1D3B","chr17:34499737","c.303A>C(exon6)","p.G101G",{"$nulls":7},"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,8,0,"TBC1D3B",1,200,"同义",13403,"0.5000=5/10",null,414059,"17q12","NM_001001417",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32756",60,60,1,{"$nulls":3},"A有","32629A","TBCC","chr6:42713618","c.194T>C(exon1)","p.V65A","rs2234026",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TBCC",1,52,"非同义",12230,"1.0000=62/62",null,6903,"6p21.1","NM_003192",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32803",9,9,1,{"$nulls":3},"A有","32629A","TCEA3","chr1:23707692","c.*267T>C(exon11)","非编码区","rs650102",0.77,0.9,0.9,0.9,0.91,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TCEA3",1,83,"非编码区",14200,"1.0000=10/10",null,6920,"1p36.12","NM_003196",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32829",47,24,0.51,{"$nulls":3},"A有","32629A","TCF20","chr22:42606257","c.5055G>A(exon1)","p.S1685S","rs2070116",0.23,0.37,0.3,0.44,0.36,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TCF20",1,67,"同义",13203,"0.4561=26/57",null,6942,"22q13.3|22q13.3","NM_005650",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32859",44,19,0.43,{"$nulls":3},"A有","32629A","TCN2","chr22:31011280","c.581-8A>C(exon5)","非编码区","rs7290898",0.16,0.21,0.21,0.21,0.2,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"维生素B12缺乏症/TC II缺乏症/钴胺素转运蛋白II缺陷症","AR",275350,5,3,2,1,"TCN2",1,77,"非编码区",16202,"0.4694=23/49",null,6948,"22q12.2","NM_000355",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v32944",5,5,1,{"$nulls":3},"A有","32629A","TEKT4","chr2:95537245","c.-80C>G(exon1)","非编码区","rs4854234",0.42,0.5,0.55,0.46,0.51,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TEKT4",1,82,"非编码区",14200,"1.0000=5/5",null,150483,"2q11.1","NM_144705",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32964",153,68,0.44,{"$nulls":3},"A有","32629A","TENM3","chr4:183601847","c.1791T>C(exon9)","p.S597S","rs2871328",0.52,0.75,0.71,0.79,0.78,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"孤立性小眼球，伴眼组织缺损9型","AR",615145,5,3,6,1,"TENM3",1,120,"同义",13203,"0.4350=77/177",{"$nulls":3},"NM_001080477",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v32998",97,41,0.42,{"$nulls":3},"A有","32629A","TEX11","chrX:69749853","c.2566-4A>T(exon30)","非编码区","rs1536251",null,0.88,0.88,0.88,null,null,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,6,0,"TEX11",0.97,210,"非编码区",16302,"0.4037=44/109",null,56159,"Xq13.1","NM_001003811",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33109",55,27,0.49,{"$nulls":3},"A有","32629A","TG","chr8:133906136","c.2963G>C(exon11)","p.R988P","rs16893332",0.055,0.077,0.081,0.073,0.097,0.099,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"甲状腺激素生成障碍3型","AR",274700,5,3,10,2,"TG",1,95,"非同义",12210,"0.4912=28/57",null,7038,"8q24","NM_003235",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33068",3,3,1,{"$nulls":3},"A有","32629A","TGIF1","chr18:3412167","c.-203C>T(exon1)","非编码区","rs11571505",0.62,0.52,0.51,0.52,0.5,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"前脑无裂畸形4型","AD",142946,5,1,2,1,"TGIF1",1,78,"非编码区",14200,"1.0000=3/3",null,7050,"18p11.3","NM_174886",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33094",173,173,1,{"$nulls":3},"A有","32629A","TGOLN2","chr2:85549868","c.1363T>C(exon4)","p.U455Q","rs4240199",0.78,0.96,0.95,0.97,0.96,0.96,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TGOLN2",1,110,"非同义",12230,"1.0000=186/186",null,10618,"2p11.2","NM_001206840",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33173",88,85,0.97,{"$nulls":3},"A有","32629A","THNSL2","chr2:88482258","c.843G>A(exon6)","p.L281L","rs35051888",0.12,0.12,0.13,0.12,0.15,0.16,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"THNSL2",1,98,"同义",13203,"0.9688=93/96",null,55258,"2p11.2","NM_001244676",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33203",5,5,1,{"$nulls":3},"A有","32629A","THUMPD1","chr16:20753123","c.-62A>G(exon1)","非编码区","rs234271",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"THUMPD1",1,81,"非编码区",14200,"1.0000=6/6",null,55623,"16p12.3","NM_017736",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33230",11,4,0.36,{"$nulls":3},"A有","32629A","TICAM1","chr19:4818378","c.12A>G(exon2)","p.T4T","rs7255265",0.73,0.59,0.56,0.63,0.6,0.57,"杂合","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,614850,5,2,4,1,"TICAM1",1,30,"同义",13203,"0.3636=4/11",null,148022,"19p13.3","NM_182919",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33288",22,22,1,{"$nulls":3},"A有","32629A","TJP3","chr19:3738971","c.1470A>G(exon13)","p.P490P","rs600986",0.7,0.63,0.61,0.65,0.63,0.64,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"TJP3",0.99,57,"同义",13203,"1.0000=23/23",null,27134,"19p13.3","NM_001267560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33314",37,37,1,{"$nulls":3},"A有","32629A","TLE6","chr19:2994885","c.1615-13G>T(exon17)","非编码区","rs11084986",0.41,0.62,0.62,0.61,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TLE6",1,65,"非编码区",16202,"1.0000=41/41",null,79816,"19p13.3","NM_001143986",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33341",179,85,0.47,{"$nulls":3},"A有","32629A","TLR10","chr4:38775040","c.2172T>C(exon4)","p.H724H","rs10776483",0.3,0.46,0.4,0.52,0.5,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TLR10",1,110,"同义",13203,"0.4949=98/198",null,81793,"4p14","NM_030956",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33366",89,89,1,{"$nulls":3},"A有","32629A","TM2D2","chr8:38848850","c.*1G>A(exon4)","非编码区","rs4733895",0.82,0.94,0.94,0.94,0.95,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TM2D2",1,120,"非编码区",14200,"1.0000=98/98",null,83877,"8p11.22","NM_031940",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33431",57,57,1,{"$nulls":3},"A有","32629A","TMC7","chr16:19041595","c.431G>A(exon6)","p.G144E","rs28583298",0.54,0.76,0.77,0.76,0.79,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TMC7",1,100,"非同义",12220,"1.0000=59/59",null,79905,"16p12.3","NM_001160364",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33450",20,20,1,{"$nulls":3},"A有","32629A","TMCO1","chr1:165737704","c.34+15G>C(exon1)","非编码区","rs2790053",0.92,0.99,0.98,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"颅面畸形，骨骼畸形和智力发育迟滞","AR",213980,5,1,1,1,"TMCO1",1,120,"非编码区",16203,"1.0000=20/20",null,54499,"1q22-q25","NM_001256165",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33493",46,46,1,{"$nulls":3},"A有","32629A","TMEM110","chr3:52874446","c.*64G>A(exon8)","非编码区","rs6769789",0.47,0.56,0.62,0.5,0.59,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24886551,{"$nulls":3},5,null,3,0,"TMEM110",1,68,"非编码区",14200,"1.0000=53/53",null,375346,"3p21.1","NM_198563",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33555",55,54,0.98,{"$nulls":3},"A有","32629A","TMEM155","chr4:122681373","c.*76A>G(exon6)","非编码区","rs4342205",0.9,0.9,0.9,0.9,0.89,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TMEM155",1,150,"非编码区",14200,"0.9841=62/63",null,132332,"4q27","NM_152399",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33583",21,21,1,{"$nulls":3},"A有","32629A","TMEM175","chr4:946226","c.450T>C(exon7)","p.I150I","rs11552301",0.65,0.7,0.73,0.68,0.7,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TMEM175",1,36,"同义",13203,"1.0000=21/21",null,84286,"4p16.3","NM_032326",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33611",25,11,0.44,{"$nulls":3},"A有","32629A","TMEM184A","chr7:1585485","c.*1103G>A(exon9)","非编码区",{"$nulls":5},0.00072,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,11,0,"TMEM184A",1,61,"非编码区",14400,"0.5758=19/33",null,202915,"7p22.3","NM_001097620",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33670",38,38,1,{"$nulls":3},"A有","32629A","TMEM245","chr9:111881927","c.267A>G(exon1)","p.L89L","rs6825",0.33,0.32,0.3,0.34,0.3,0.4,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TMEM245",1,140,"同义",13203,"1.0000=47/47",null,23731,"9q31","NM_032012",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33707",5,2,0.4,{"$nulls":3},"A有","32629A","TMEM41B","chr11:9336147","c.-159G>A(exon1)","非编码区","rs75582454",0.0012,0.0096,0.0095,0.0097,null,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,7,0,"TMEM41B",1,170,"非编码区",14100,"0.4000=2/5",null,440026,"11p15.4","NM_015012",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33732",137,135,0.99,{"$nulls":3},"A有","32629A","TMEM56-RWDD3","chr1:95709821","c.*15T>C(exon8)","非编码区","rs259358",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TMEM56-RWDD3",1,200,"非编码区",14200,"0.9728=143/147",null,100527978,"1p","NM_001199691",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33795",87,43,0.49,{"$nulls":3},"A有","32629A","TMEM99","chr17:38991003","c.235T>C(exon3)","p.Y79H","rs10558",0.34,0.41,0.45,0.37,0.35,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TMEM99",1,77,"非同义",12210,"0.5000=51/102",null,147184,"17q21.2","NM_001195386",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33818",171,171,1,{"$nulls":3},"A有","32629A","TMPRSS11BNL","chr4:69078113","c.91A>G(exon2)","p.T31A","rs4463136",0.72,0.99,0.98,1,0.99,0.99,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TMPRSS11BNL",1,270,"非同义",12230,"1.0000=192/192",null,401136,"4q13.2","NM_001129907",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33852",62,62,1,{"$nulls":3},"A有","32629A","TMPRSS4","chr11:117965530","c.4-7A>G(exon2)","非编码区","rs2276122",0.31,0.35,0.31,0.39,0.37,0.4,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",21205862,{"$nulls":3},5,null,6,0,"TMPRSS4",1,87,"非编码区",16201,"1.0000=67/67",null,56649,"11q23.3","NM_001173551",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33882",3,3,1,{"$nulls":3},"A有","32629A","TMUB1","chr7:150778524","c.*112C>T(exon3)","非编码区","rs4725387",0.97,1,1,1,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TMUB1",1,28,"非编码区",14200,"1.0000=3/3",null,83590,"7q36.1","NM_031434",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33942",6,6,1,{"$nulls":3},"A有","32629A","TNFRSF4","chr1:1146710","c.*225C>T(exon7)","非编码区","rs35502961",0.0026,0.0048,0.0095,0,null,null,"纯合","未知","UTR突变可能影响蛋白翻译",null,"免疫缺陷16型","AR",615593,3,1,2,1,"TNFRSF4",1,25,"非编码区",14100,"1.0000=6/6",null,7293,"1p36","NM_003327",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v33972",35,23,0.66,{"$nulls":3},"A有","32629A","TNIP2","chr4:2743999","c.1275T>C(exon6)","p.A425A","rs232712",0.79,0.56,0.59,0.53,0.6,0.59,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"TNIP2",0.93,31,"同义",13203,"0.6667=24/36",null,79155,"4p16.3","NM_024309",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34031",72,72,1,{"$nulls":3},"A有","32629A","TNR","chr1:175324651","c.3237T>C(exon17)","p.D1079D","rs2228359",0.67,0.8,0.78,0.82,0.79,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,10,0,"TNR",1,110,"同义",13203,"1.0000=78/78",null,7143,"1q24","NM_003285",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34056",36,15,0.42,{"$nulls":3},"A有","32629A","TNXB","chr6:32025858","c.7802C>T(exon22)","p.P2601L","rs575866552",1.8E-3,0.0096,0.0095,0.0097,0.004,0.0069,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"爱唐综合症(皮肤弹力过度症)3型（运动过度型）","AD",130020,2,1,1,3,"TNXB",0.95,29,"非同义",12110,"0.4286=18/42",null,7148,"6p21.3","NM_019105",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","疑似阳性"]
["32629A(745)v34084",13,13,1,{"$nulls":3},"A有","32629A","TOPAZ1","chr3:44283525","c.-21A>G(exon1)","非编码区","rs9850927",0.84,0.85,0.86,0.84,0.8,0.88,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TOPAZ1",1,170,"非编码区",14200,"1.0000=13/13",{"$nulls":3},"NM_001145030",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34108",15,15,1,{"$nulls":3},"A有","32629A","TP53","chr17:7578645","c.-112G>A(exon1)","非编码区","rs2909430",0.84,0.96,0.96,0.97,0.96,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","17301252;17449902;18678618;19276285;19276375","鼻咽癌（易感）",null,607107,5,1,4,11,"TP53",1,97,"非编码区",14200,"1.0000=15/15",null,7157,"17p13.1","NM_001126115",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34131",75,75,1,{"$nulls":3},"A有","32629A","TPD52L3","chr9:6328947","c.352T>C(exon1)","p.F118L","rs3847262",0.92,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TPD52L3",1,160,"非同义",12230,"1.0000=84/84",null,89882,"9p24.1","NM_033516",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34148",16,8,0.5,{"$nulls":3},"A有","32629A","TPO","chr2:1481155","c.1117G>T(exon8)","p.A373S","rs2280132",0.41,0.51,0.53,0.48,0.45,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24829575,"甲状腺激素生成障碍2A型","AR",274500,5,3,7,1,"TPO",1,85,"非同义",12220,"0.4000=8/20",null,7173,"2p25","NM_000547","ALA373SER|\"Thyroid_dyshormonogenesis\"|24829575",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34169",16,9,0.56,{"$nulls":3},"A有","32629A","TPRA1","chr3:127292333","c.*31C>T(exon10)","非编码区","rs62264113",0.15,0.26,0.31,0.21,0.24,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TPRA1",1,65,"非编码区",14200,"0.5882=10/17",null,131601,"3q21.2","NM_016372",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34243",91,41,0.45,{"$nulls":3},"A有","32629A","TRAF3IP2","chr6:111913185-111913186","c.104(exon2)_c.105(exon2)insACC","p.P35delinsPP","rs142054894",0.0054,0.017,0.0048,0.029,0.027,0.022,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"银屑病易感13型",null,614070,3,2,3,2,"TRAF3IP2",1,93,"非移码",2213,"0.4490=44/98",null,10758,"6q21","NM_147686",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34268",28,14,0.5,{"$nulls":3},"A有","32629A","TRANK1","chr3:36897812","c.3269A>G(exon12)","p.E1090G","rs11712950",0.28,0.58,0.6,0.56,0.57,0.57,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"TRANK1",1,91,"非同义",12220,"0.5000=15/30",null,9881,"3p22.2","NM_014831",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34298",55,55,1,{"$nulls":3},"A有","32629A","TREH","chr11:118529017","c.1733A>C(exon15)","p.U578S","rs6589669",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"海藻糖酶缺乏症",null,612119,5,1,6,1,"TREH",1,72,"非同义",12230,"1.0000=63/63",null,11181,"11q23.3","NM_007180",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34325",13,13,1,{"$nulls":3},"A有","32629A","TRIB3","chr20:371972","c.333T>C(exon3)","p.Y111Y","rs6051637",0.72,0.75,0.74,0.76,0.63,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TRIB3",1,34,"同义",13203,"1.0000=13/13",null,57761,"20p13-p12.2","NM_021158",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34397",77,38,0.49,{"$nulls":3},"A有","32629A","TRIM51","chr11:55652963","c.59A>G(exon2)","p.N20S","rs2063276",0.68,0.79,0.84,0.74,0.77,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"TRIM51",1,160,"非同义",12210,"0.4725=43/91",null,84767,"11q11","NM_032681",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34425",101,23,0.23,{"$nulls":3},"A有","32629A","TRIM64B","chr11:89608992-89608992","c.194(exon1)delA","p.N65Tfs*12","rs202171686",0.012,0.053,0.062,0.044,null,0.03,"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",{"$nulls":4},1,null,2,0,"TRIM64B",0.98,260,"移码",2110,"0.2368=27/114",null,642446,"11q14.3","NM_001164397",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34458",78,39,0.5,{"$nulls":3},"A有","32629A","TRIML2","chr4:189022324","c.216G>A(exon3)","p.Q72Q","rs79698746",0.2,0.48,0.51,0.44,0.48,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TRIML2",1,110,"同义",13203,"0.5238=44/84",null,205860,"4q35.2","NM_173553",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34493",77,77,1,{"$nulls":3},"A有","32629A","TRMT12","chr8:125463250","c.82T>C(exon1)","p.W28R","rs3812475",0.57,0.43,0.45,0.4,0.43,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18682748,{"$nulls":3},5,null,4,0,"TRMT12",1,59,"非同义",12220,"1.0000=84/84",null,55039,"8q24.13","NM_017956",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34554",42,42,1,{"$nulls":3},"A有","32629A","TRPM5","chr11:2439542","c.761T>C(exon6)","p.V254A","rs3986599",0.84,0.9,0.9,0.9,0.87,0.89,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TRPM5",1,53,"非同义",12220,"1.0000=45/45",null,29850,"11p15.5","NM_014555",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34578",80,80,1,{"$nulls":3},"A有","32629A","TRPV3","chr17:3422032","c.1923C>T(exon15)","p.D641D","rs7216486",0.67,0.95,0.97,0.93,0.94,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"残毁性掌跖角化病伴腔口周围角化性斑块/OLMSTED综合征","AD",614594,5,1,8,1,"TRPV3",1,93,"同义",13203,"1.0000=84/84",null,162514,"17p13.2","NM_001258205",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34623",78,78,1,{"$nulls":3},"A有","32629A","TSPAN10","chr17:79609410","c.-29G>T(exon1)","非编码区","rs7406219",0.58,0.81,0.82,0.81,0.76,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"TSPAN10",1,25,"非编码区",14200,"1.0000=94/94",null,83882,"17q25.3","NM_031945",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34653",8,5,0.62,{"$nulls":3},"A有","32629A","TSPAN18","chr11:44952669","c.*1940G>C(exon9)","非编码区","rs836001",0.88,0.76,0.77,0.75,0.73,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"TSPAN18",1,79,"非编码区",14200,"0.6250=5/8",null,90139,"11p11.2","NM_130783",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34679",24,18,0.75,{"$nulls":3},"A有","32629A","TSPYL5","chr8:98289986","c.87G>A(exon1)","p.P29P","rs28669903",0.58,0.64,0.66,0.63,0.63,0.65,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"TSPYL5",1,63,"同义",13203,"0.7407=20/27",null,85453,"8q22.1","NM_033512",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34709",98,49,0.5,{"$nulls":3},"A有","32629A","TTC18","chr10:75071579","c.1374+13G>A(exon12)","非编码区","rs10159494",0.18,0.33,0.33,0.33,null,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TTC18",1,140,"非编码区",16203,"0.5243=54/103",null,118491,"10q22.2","NM_145170",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34774",60,30,0.5,{"$nulls":3},"A有","32629A","TTC40","chr10:134646988","c.6991G>A(exon50)","p.A2331T","rs4880433",0.32,0.26,0.28,0.25,0.24,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"TTC40",0.62,32,"非同义",12220,"0.5161=32/62",null,54777,"10q26.3","NM_001200049",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34802",20,20,1,{"$nulls":3},"A有","32629A","TTF2","chr1:117603188","c.131+9G>T(exon2)","非编码区","rs2244406",0.72,0.93,0.93,0.93,0.92,0.93,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"TTF2",1,140,"非编码区",16203,"1.0000=23/23",null,8458,"1p22","NM_003594",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34827",23,9,0.39,{"$nulls":3},"A有","32629A","TTLL12","chr22:43575935","c.618G>A(exon4)","p.V206V","rs33970602",0.049,0.031,0.029,0.034,0.021,0.015,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"TTLL12",1,55,"同义",13103,"0.3462=9/26",null,23170,"22q13.31","NM_015140",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34864",95,45,0.47,{"$nulls":3},"A有","32629A","TTN","chr2:179406191","c.97613G>A(exon350)","p.R32538H","rs3731749",0.21,0.4,0.44,0.36,0.42,0.43,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性肥厚型心肌病9型",null,613765,5,2,69,6,"TTN",0.99,120,"非同义",12210,"0.5000=54/108",null,7273,"2q31","NM_001267550",null,"rs3731749|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34869",84,38,0.45,{"$nulls":3},"A有","32629A","TTN","chr2:179430997","c.79862C>T(exon326)","p.T26621M","rs3731746",0.34,0.6,0.62,0.58,0.59,0.61,"杂合","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,613765,5,2,69,6,"TTN",0.99,120,"非同义",12210,"0.4505=41/91",null,7273,"2q31","NM_001267550",null,"rs3731746|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"]
["32629A(745)v34874",76,29,0.38,{"$nulls":3},"A有","32629A","TTN","chr2:179447848","c.65682A>G(exon313)","p.T21894T","rs4894029",0.51,0.69,0.73,0.66,0.67,0.7,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"家族性肥厚型心肌病9型",null,613765,5,2,69,6,"TTN",0.99,120,"同义",13203,"0.3404=32/94",null,7273,"2q31","NM_001267550",null,"rs4894029|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34881",92,52,0.57,{"$nulls":3},"A有","32629A","TTN","chr2:179474691","c.51459T>G(exon272)","p.D17153E","rs151281257",0.0002,0.0024,0,0.0049,0.0012,1.2E-4,"杂合","可能相关","Provean软件蛋白结构预测可能有害",null,"扩张型心肌病1G型",null,604145,2,2,69,6,"TTN",0.99,120,"非同义",12110,"0.5588=57/102",null,7273,"2q31","NM_001267550",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["32629A(745)v34890",70,27,0.39,{"$nulls":3},"A有","32629A","TTN","chr2:179579037","c.26464G>A(exon91)","p.A8822T","rs184883436",{"$nulls":4},1E-3,1.2E-4,"杂合","可能相关","Provean软件蛋白结构预测可能有害","CLINVAR数据库","家族性肥厚型心肌病9型",null,613765,2,2,69,6,"TTN",0.99,120,"非同义",12310,"0.4110=30/73",null,7273,"2q31","NM_001267550",null,"rs184883436|not provided|NA|NA|no assertion provided|NA;ALA8505THR|not provided|NA|NA|no assertion provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","疑似阳性"]
["32629A(745)v34895",44,18,0.41,{"$nulls":3},"A有","32629A","TTN","chr2:179581835","c.25626G>T(exon88)","p.Q8542H","rs2562832",0.051,0.22,0.23,0.22,0.21,0.22,"杂合","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,603689,5,2,69,6,"TTN",0.99,120,"非同义",12210,"0.3673=18/49",null,7273,"2q31","NM_001267550",null,"GLN7298HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;rs2562832|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"]
["32629A(745)v34907",164,85,0.52,{"$nulls":3},"A有","32629A","TTN","chr2:179606538","c.11422C>T(exon48)","p.P3808S","rs2627037",0.27,0.24,0.24,0.23,0.23,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"迟发性胫骨肌营养不良症","AD",600334,5,1,69,6,"TTN",0.99,120,"非同义",12220,"0.5110=93/182",null,7273,"2q31","NM_001267550",null,"rs2627037|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266;PRO3491SER|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34912",49,49,1,{"$nulls":3},"A有","32629A","TTN","chr2:179615994","c.11133A>G(exon46)","p.T3711T","rs922986",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,"迟发性胫骨肌营养不良症","AD",600334,5,1,69,6,"TTN",0.99,120,"同义",13203,"1.0000=57/57",null,7273,"2q31","NM_133379",null,"rs922986|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"]
["32629A(745)v34916",61,61,1,{"$nulls":3},"A有","32629A","TTN","chr2:179629363","c.9879A>G(exon42)","p.E3293E","rs4894043",0.97,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1G型",null,604145,5,1,69,6,"TTN",0.99,120,"同义",13203,"1.0000=66/66",null,7273,"2q31","NM_001267550",null,"rs4894043|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34921",164,89,0.54,{"$nulls":3},"A有","32629A","TTN","chr2:179641975","c.4715G>A(exon27)","p.R1572Q","rs12476289",0.075,0.21,0.22,0.2,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;20031603","扩张型心肌病1G型",null,604145,5,2,69,6,"TTN",0.99,120,"非同义",12210,"0.5615=105/187",null,7273,"2q31","NM_001267550",null,"rs12476289|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"]
["32629A(745)v34960",120,43,0.36,{"$nulls":3},"A有","32629A","TUBB2A","chr6:3154871","c.564T>G(exon4)","p.S188S","rs17849443",0.4,0.39,0.39,0.4,0.38,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"复合型脑皮质发育不良伴其他脑发育畸形5型","AD",615763,5,1,1,1,"TUBB2A",1,130,"同义",13203,"0.3600=45/125",null,7280,"6p25","NM_001069",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v34982",33,33,1,{"$nulls":3},"A有","32629A","TUBGCP2","chr10:135098672","c.2025C>T(exon14)","p.Y675Y","rs3008334",0.89,0.95,0.96,0.95,0.92,0.95,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TUBGCP2",0.97,55,"同义",13203,"1.0000=36/36",null,10844,"10q26.3","NM_001256617",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35012",2,2,1,{"$nulls":3},"A有","32629A","TUSC1","chr9:25676895","c.*786A>G(exon1)","非编码区","rs10812299",0.5,0.64,0.64,0.65,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"TUSC1",1,18,"非编码区",14200,"1.0000=2/2",null,286319,"9p21.2","NM_001004125",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35085",66,66,1,{"$nulls":3},"A有","32629A","UAP1L1","chr9:139977195","c.*14T>C(exon9)","非编码区","rs4390039",1,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"UAP1L1",1,65,"非编码区",14200,"1.0000=71/71",null,91373,"9q34.3","NM_207309",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35115",23,16,0.7,{"$nulls":3},"A有","32629A","UBE2D3","chr4:103718318","c.*301A>T(exon8)","非编码区","rs11558051",0.013,0.024,0.029,0.019,0.011,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,2,0,"UBE2D3",1,300,"非编码区",14100,"0.7083=17/24",null,7323,"4q24","NM_181892",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35145",187,87,0.47,{"$nulls":3},"A有","32629A","UBE3D","chr6:83667045","c.1135G>A(exon9)","p.V379M","rs7739323",0.16,0.14,0.16,0.13,0.14,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",25872646,{"$nulls":3},5,null,1,0,"UBE3D",1,180,"非同义",12220,"0.4571=96/210",null,90025,"6q14.1","NM_198920","VAL379MET|\"Macular_degeneration_age_related_reduced_risk\"|25872646",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35211",31,13,0.42,{"$nulls":3},"A有","32629A","UCMA","chr10:13275553","c.205A>C(exon3)","p.R69R","rs3829925",0.8,0.82,0.83,0.8,0.79,0.82,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"UCMA",1,60,"同义",13203,"0.4194=13/31",null,221044,"10p13","NM_145314",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35249",10,6,0.6,{"$nulls":3},"A有","32629A","UGT1A1","chr2:234681416","c.*211T>C(exon5)","非编码区","rs10929303",0.75,0.87,0.86,0.89,0.83,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",23408116,"Crigler-Najjar综合征2型","AR",606785,5,3,2,5,"UGT1A1",1,130,"非编码区",14200,"0.6000=6/10",null,54658,"2q37","NM_000463",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35258",121,57,0.47,{"$nulls":3},"A有","32629A","UGT1A4","chr2:234628270","c.804G>A(exon1)","p.P268P","rs3732217",0.13,0.2,0.25,0.16,0.18,0.19,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"UGT1A4",1,160,"同义",13203,"0.5074=69/136",null,54657,"2q37","NM_007120",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35314",19,19,1,{"$nulls":3},"A有","32629A","UHRF1","chr19:4945917","c.1389C>T(exon9)","p.H463H","rs2250981",0.55,0.65,0.63,0.67,0.68,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"UHRF1",1,82,"同义",13203,"1.0000=20/20",null,29128,"19p13.3","NM_013282",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35343",134,54,0.4,{"$nulls":3},"A有","32629A","ULK4","chr3:41937000","c.1577+10G>A(exon16)","非编码区","rs1717003",0.69,0.83,0.86,0.8,0.8,0.81,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,16,0,"ULK4",1,160,"非编码区",16203,"0.4118=63/153",null,54986,"3p22.1","NM_017886",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35366",43,43,1,{"$nulls":3},"A有","32629A","UMODL1","chr21:43547788","c.3705T>C(exon19)","p.P1235P","rs220158",0.82,0.78,0.76,0.8,0.76,0.78,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,19,0,"UMODL1",1,78,"同义",13203,"1.0000=44/44",null,89766,"21q22.3","NM_001199527",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35397",75,34,0.45,{"$nulls":3},"A有","32629A","UNC50","chr2:99234810-99234814","c.*43(exon6)_c.*47(exon6)delGTGAA","非编码区","rs200210715",0.0084,0.012,0.019,0.0049,0,0.014,"杂合","未知","UTR突变影响转录调控，从而可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"UNC50",1,160,"非编码区",2410,"0.4574=43/94",null,25972,"2q11.2","NM_014044",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35461",23,11,0.48,{"$nulls":3},"A有","32629A","USH1C","chr11:17553105","c.105-16C>T(exon3)","非编码区","rs2041027",0.42,0.49,0.49,0.49,0.5,0.51,"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18型","AR",602092,5,3,7,2,"USH1C",1,72,"非编码区",16202,"0.4783=11/23",null,10083,"11p14.3","NM_153676",null,"rs2041027|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"]
["32629A(745)v35478",76,76,1,{"$nulls":3},"A有","32629A","USHBP1","chr19:17367435","c.1315A>G(exon9)","p.M439V","rs9676419",0.33,0.26,0.29,0.24,0.29,0.26,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"USHBP1",1,46,"非同义",12220,"1.0000=81/81",null,83878,"19p13","NM_031941",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35510",2,2,1,{"$nulls":3},"A有","32629A","USP22","chr17:20903976-20903976","c.*2368(exon13)delC","非编码区","rs57441716",0.21,0.28,0.3,0.26,0,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"USP22",1,98,"非编码区",2420,"1.0000=2/2",null,23326,"17p11.2","NM_015276",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35578",181,181,1,{"$nulls":3},"A有","32629A","USP45","chr6:99883704","c.2333A>G(exon18)","p.N778S","rs6570065",0.99,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"USP45",1,160,"非同义",12220,"1.0000=207/207",null,85015,"6q16.2","NM_001080481",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35610",3,2,0.67,{"$nulls":3},"A有","32629A","UTF1","chr10:135043802","c.10C>A(exon1)","p.R4R","rs7092433",0.71,0.68,0.64,0.71,0.38,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"UTF1",1,7.6,"同义",13203,"0.6667=2/3",null,8433,"10q26","NM_003577",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35639",5,5,1,{"$nulls":3},"A有","32629A","UTS2D","chr3:190985807","c.*398T>C(exon9)","非编码区","rs4687206",0.78,0.67,0.63,0.7,0.62,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"UTS2D",1,250,"非编码区",14200,"1.0000=6/6",null,257313,"3q28","NM_198152",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35706",43,23,0.53,{"$nulls":3},"A有","32629A","VCL","chr10:75865065","c.2388G>A(exon16)","p.P796P","rs767809",0.32,0.26,0.27,0.25,0.26,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"扩张型心肌病1W型",null,611407,5,2,2,2,"VCL",1,120,"同义",13203,"0.4808=25/52",null,7414,"10q22.2","NM_014000",null,"rs767809|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"]
["32629A(745)v35734",67,28,0.42,{"$nulls":3},"A有","32629A","VEZT","chr12:95694394","c.2285G>A(exon12)","p.G762D","rs14121",0.76,0.63,0.69,0.58,0.64,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"VEZT",1,150,"非同义",12220,"0.3944=28/71",null,55591,"12q22","NM_017599",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35770",191,93,0.49,{"$nulls":3},"A有","32629A","VPS13A","chr9:79930225","c.4469G>A(exon38)","p.R1490K","rs76077278",0.045,0.079,0.071,0.087,0.11,0.13,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"舞蹈性棘细胞症","AR",200150,3,3,4,1,"VPS13A",1,220,"非同义",12120,"0.4744=102/215",null,23230,"9q21","NM_033305",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35831",78,38,0.49,{"$nulls":3},"A有","32629A","VSIG10","chr12:118520170","c.426C>T(exon3)","p.Y142Y","rs7488309",0.46,0.63,0.65,0.61,0.62,0.6,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"VSIG10",1,97,"同义",13203,"0.5172=45/87",null,54621,"12q24.23","NM_019086",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35850",49,27,0.55,{"$nulls":3},"A有","32629A","VTN","chr17:26694861","c.1199C>T(exon7)","p.T400M","rs704",0.56,0.77,0.8,0.73,0.72,0.72,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","19288063;18194558",{"$nulls":3},5,null,3,0,"VTN",1,63,"非同义",12220,"0.5472=29/53",null,7448,"17q11","NM_000638","rs704|\"Hemangioblastoma_in_VHL_association_with\"|19288063",{"$nulls":3},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35876",166,75,0.45,{"$nulls":3},"A有","32629A","VWA8","chr13:42385446","c.1978A>G(exon17)","p.R660G","rs9562353",0.073,0.12,0.14,0.092,0.083,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"VWA8",1,180,"非同义",12210,"0.4560=83/182",null,23078,"13q14.11","NM_001009814",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35894",41,28,0.68,{"$nulls":3},"A有","32629A","VWF","chr12:6127919","c.4665A>C(exon28)","p.A1555A","rs1800384",0.18,0.36,0.36,0.35,0.36,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"I型 von Willebrand病","AD",193400,5,1,14,3,"VWF",1,85,"同义",13203,"0.6818=30/44",null,7450,"12p13.3","NM_000552",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35969",131,69,0.53,{"$nulls":3},"A有","32629A","WDR1","chr4:10080545","c.1365C>T(exon12)","p.P455P","rs369817887",0.0004,0.0024,0,0.0049,0.0042,1.4E-3,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"WDR1",1,78,"同义",13103,"0.5290=73/138",null,9948,"4p16.1","NM_017491",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35967",173,94,0.54,{"$nulls":3},"A有","32629A","WDR19","chr4:39216221","c.891C>T(exon10)","p.C297C","rs2167494",0.26,0.15,0.14,0.17,0.15,0.16,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"窒息性胸廓发育不良5型","AR",614376,5,3,3,3,"WDR19",1,190,"同义",13202,"0.5122=105/205",null,57728,"4p14","NM_025132",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v35992",186,72,0.39,{"$nulls":3},"A有","32629A","WDR36","chr5:110456704","c.2181A>T(exon19)","p.V727V","rs13186912",0.26,0.27,0.25,0.29,0.27,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",19347049,"开角型青光眼1G型",null,609887,5,2,2,1,"WDR36",1,200,"同义",13203,"0.3981=82/206",null,134430,"5q22.1","NM_139281",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36056",45,45,1,{"$nulls":3},"A有","32629A","WDR60","chr7:158719084","c.2372-9C>T(exon19)","非编码区","rs2244789",0.78,0.93,0.93,0.92,0.91,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"短肋骨胸廓发育不良8伴或不伴多趾","AR",615503,5,1,6,1,"WDR60",1,160,"非编码区",16202,"1.0000=52/52",null,55112,"7q36.3","NM_018051",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36086",147,64,0.44,{"$nulls":3},"A有","32629A","WDR67","chr8:124138891","c.1848G>A(exon13)","p.T616T","rs16898013",0.087,0.034,0.038,0.029,0.049,0.047,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"WDR67",1,190,"同义",13203,"0.4485=74/165",null,93594,"8q24.13","NM_145647",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36119",33,33,1,{"$nulls":3},"A有","32629A","WDR81","chr17:1636934","c.4603A>G(exon7)","p.M1535V","rs3809870",0.28,0.5,0.5,0.49,0.51,0.51,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","CLINVAR数据库","小脑性共济失调、智力低下和平衡失调综合征2型","AR",610185,5,1,8,1,"WDR81",1,33,"非同义",12220,"1.0000=38/38",null,124997,"17p13.3","NM_001163809",null,"MET1535VAL|Likely benign|NA|NA|no assertion criteria provided|NA;rs3809870|Likely benign|NA|NA|no assertion criteria provided|NA",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36186",46,46,1,{"$nulls":3},"A有","32629A","WFS1","chr4:6292909","c.461-15C>T(exon5)","非编码区","rs9998519",0.72,0.91,0.86,0.96,0.92,0.92,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",24033266,"白内障41型","AD",116400,5,1,13,5,"WFS1",1,49,"非编码区",16202,"1.0000=53/53",null,7466,"4p16.1","NM_006005",null,"rs9998519|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"]
["32629A(745)v36192",19,10,0.53,{"$nulls":3},"A有","32629A","WFS1","chr4:6302889","c.1367G>A(exon8)","p.R456H","rs1801208",0.06,0.094,0.086,0.1,0.11,0.092,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","24033266;10679252;19258739","白内障41型","AD",116400,5,1,13,5,"WFS1",1,49,"非同义",12210,"0.5500=11/20",null,7466,"4p16.1","NM_006005","ARG456HIS|\"Diabetes_type_1_association_with\"|10679252","ARG456HIS|Benign|NA|NA|criteria provided, multiple submitters, no conflicts|PubMed:24033266",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36210",16,9,0.56,{"$nulls":3},"A有","32629A","WIPF3","chr7:29923947","c.837C>A(exon5)","p.P279P","rs548308628",1.4E-3,0.0096,0.0095,0.0097,0.014,0.0069,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"WIPF3",1,71,"同义",13103,"0.5000=9/18",null,644150,"7p14.3","NM_001080529",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36219",17,17,1,{"$nulls":3},"A有","32629A","WISP3","chr6:112375307","c.-81A>G(exon1)","非编码区","rs3806964",0.24,0.35,0.35,0.35,0.33,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"儿童期进行性假风湿关节病/晚发型脊柱骨骺发育不良伴进行性骨关节病","AR",208230,5,1,2,1,"WISP3",1,170,"非编码区",14200,"1.0000=17/17",null,8838,"6q21","NM_003880",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36270",5,5,1,{"$nulls":3},"A有","32629A","WT1","chr11:32410337","c.*267G>C(exon10)","非编码区","rs5030317",0.59,0.75,0.72,0.77,0.69,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"Meacham综合症",null,608978,5,1,4,6,"WT1",0.99,70,"非编码区",14200,"1.0000=5/5",null,7490,"11p13","NM_024426",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36286",9,9,1,{"$nulls":3},"A有","32629A","WWC3","chrX:10085674","c.1575T>C(exon11)","p.D525D","rs6530368",null,1,1,1,0.63,1,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"WWC3",1,120,"同义",13303,"1.0000=11/11",null,55841,"Xp22.32","NM_015691",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36313",123,123,1,{"$nulls":3},"A有","32629A","XCL2","chr1:168513129","c.61+13G>A(exon1)","非编码区","rs3820405",0.35,0.73,0.7,0.77,0.69,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"XCL2",1,190,"非编码区",16203,"1.0000=136/136",null,6846,"1q24.2","NM_003175",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36381",62,35,0.56,{"$nulls":3},"A有","32629A","YEATS2","chr3:183508590","c.2919A>G(exon21)","p.E973E","rs79808533",0.046,0.15,0.16,0.13,0.14,0.15,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,7,0,"YEATS2",1,140,"同义",13103,"0.5625=36/64",null,55689,"3q27.1","NM_018023",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36407",60,60,1,{"$nulls":3},"A有","32629A","YPEL1","chr22:22055394","c.*24T>C(exon5)","非编码区","rs1860",0.67,0.76,0.75,0.77,0.76,0.74,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"YPEL1",1,87,"非编码区",14200,"1.0000=62/62",null,29799,"22q11.2","NM_013313",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36437",39,39,1,{"$nulls":3},"A有","32629A","ZAN","chr7:100371476-100371477","c.5767(exon31)_c.5768(exon31)insG","p.F1923Cfs*891","rs148800656",0.45,0.82,0.79,0.85,0.78,0.81,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,17,0,"ZAN",1,140,"移码",2120,"1.0000=45/45",null,7455,"7q22","NM_003386",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36508",25,25,1,{"$nulls":3},"A有","32629A","ZC2HC1C","chr14:75544470","c.*203T>A(exon3)","非编码区","rs10246",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",{"$nulls":4},5,null,3,0,"ZC2HC1C",1,130,"非编码区",14200,"1.0000=26/26",null,79696,"14q24.3","NM_024643",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36535",2,2,1,{"$nulls":3},"A有","32629A","ZC3HAV1","chr7:138731898","c.*442G>A(exon13)","非编码区","rs10250457",0.42,0.35,0.35,0.34,null,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,12,0,"ZC3HAV1",1,110,"非编码区",14200,"1.0000=2/2",null,56829,"7q34","NM_020119",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36564",22,13,0.59,{"$nulls":3},"A有","32629A","ZCCHC3","chr20:279483","c.*41T>C(exon1)","非编码区","rs1046560",0.45,0.66,0.64,0.67,null,0.66,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZCCHC3",1,27,"非编码区",14200,"0.5833=14/24",null,85364,"20p13-p12.2","NM_033089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36644",44,17,0.39,{"$nulls":3},"A有","32629A","ZFHX3","chr16:72991660","c.2385G>C(exon2)","p.P795P","rs10852515",0.77,0.65,0.64,0.66,0.65,0.68,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"前列腺癌","AD",176807,5,1,10,1,"ZFHX3",1,62,"同义",13203,"0.3778=17/45",null,463,"16q22.3","NM_006885",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36676",13,13,1,{"$nulls":3},"A有","32629A","ZFP82","chr19:36883444","c.*199A>G(exon5)","非编码区","rs2945961",0.66,0.6,0.56,0.63,0.61,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZFP82",1,170,"非编码区",14200,"1.0000=14/14",null,284406,"19q13.12","NM_133466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36706",64,64,1,{"$nulls":3},"A有","32629A","ZFYVE21","chr14:104199356","c.*1C>T(exon8)","非编码区","rs2295146",0.38,0.35,0.37,0.33,0.35,0.37,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","18413776;18551366",{"$nulls":3},5,null,3,0,"ZFYVE21",0.93,61,"非编码区",14200,"1.0000=73/73",null,79038,"14q32.33","NM_001198953",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36767",51,23,0.45,{"$nulls":3},"A有","32629A","ZMYND8","chr20:45867852","c.2315T>C(exon15)","p.V772A","rs2275801",0.33,0.25,0.25,0.25,0.21,0.24,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZMYND8",1,110,"非同义",12220,"0.4182=23/55",null,23613,"20q13.12","NM_183047",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36801",95,56,0.59,{"$nulls":3},"A有","32629A","ZNF135","chr19:58572979","c.65G>A(exon3)","p.G22D","rs1469087",0.78,0.51,0.49,0.54,0.51,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF135",1,130,"非同义",12220,"0.6126=68/111",null,7694,"19q13.4","NM_003436",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36825",138,37,0.27,{"$nulls":3},"A有","32629A","ZNF141","chr4:338129","c.136G>A(exon3)","p.A46T","rs75245145",{"$nulls":4},0.022,0.012,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",null,"轴后多指趾畸形A6型","AR",615226,3,3,12,1,"ZNF141",1,210,"非同义",12320,"0.2667=40/150",null,7700,"4p16.3","NM_003441",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36854",170,170,1,{"$nulls":3},"A有","32629A","ZNF167","chr3:44612050","c.1448C>T(exon6)","p.T483I","rs9873604",0.75,0.86,0.87,0.85,0.86,0.84,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF167",1,150,"非同义",12220,"1.0000=187/187",null,55888,"3p21.32","NM_018651",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36926",38,19,0.5,{"$nulls":3},"A有","32629A","ZNF211","chr19:58153656","c.*107A>G(exon5)","非编码区","rs1044985",0.14,0.28,0.29,0.28,0.26,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,11,0,"ZNF211",1,170,"非编码区",14200,"0.5250=21/40",null,10520,"19q13.4","NM_001265597",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36952",227,121,0.53,{"$nulls":3},"A有","32629A","ZNF227","chr19:44732658","c.120C>G(exon4)","p.L40L","rs922063",0.2,0.082,0.081,0.083,0.074,0.083,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF227",1,170,"同义",13203,"0.5211=136/261",null,7770,"-","NM_182490",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v36982",85,47,0.55,{"$nulls":3},"A有","32629A","ZNF251","chr8:145947776","c.1269C>T(exon5)","p.H423H","rs2722468",0.1,0.38,0.36,0.39,0.39,0.39,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF251",1,94,"同义",13203,"0.5474=52/95",null,90987,"8q24.3","NM_138367",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37053",277,130,0.47,{"$nulls":3},"A有","32629A","ZNF286A","chr17:15611495","c.268T>C(exon5)","p.Y90H","rs3760299",0.51,0.64,0.68,0.6,0.64,0.63,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF286A",1,200,"非同义",12220,"0.4934=150/304",null,57335,"17p11.2","NM_020652",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37084",121,67,0.55,{"$nulls":3},"A有","32629A","ZNF300","chr5:150275577","c.1272G>A(exon7)","p.P424P","rs76474888",0.049,0.043,0.043,0.044,0.047,0.034,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,2,0,"ZNF300",1,160,"同义",13103,"0.5929=83/140",null,91975,"5q33.1","NM_001172831",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37127",50,25,0.5,{"$nulls":3},"A有","32629A","ZNF34","chr8:146003567","c.97-18T>C(exon4)","非编码区","rs2294120",0.43,0.73,0.73,0.73,0.7,0.74,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF34",1,99,"非编码区",16202,"0.4808=25/52",null,80778,"8q24.3","NM_030580",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37192",266,101,0.38,{"$nulls":3},"A有","32629A","ZNF417","chr19:58420699","c.947G>T(exon3)","p.R316L","rs3745133",0.34,0.28,0.26,0.31,0.27,0.27,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF417",1,250,"非同义",12210,"0.3960=118/298",null,147687,"19q13.43","NM_152475",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37220",149,72,0.48,{"$nulls":3},"A有","32629A","ZNF438","chr10:31146643","c.-28A>G(exon7)","非编码区","rs4237394",0.37,0.38,0.34,0.42,0.35,0.41,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF438",1,99,"非编码区",14200,"0.4826=83/172",null,220929,"10p11.23","NM_001143770",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37253",20,20,1,{"$nulls":3},"A有","32629A","ZNF469","chr16:88495654","c.1776A>G(exon1)","p.P592P","rs12927001",0.87,0.92,0.92,0.91,0.92,0.94,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"脆性角膜综合症1型","AR",229200,5,1,21,1,"ZNF469",1,38,"同义",13203,"1.0000=22/22",null,84627,"16q24","NM_001127464",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37279",140,64,0.46,{"$nulls":3},"A有","32629A","ZNF479","chr7:57187595","c.1527T>G(exon5)","p.A509A","rs78428923",0.046,0.14,0.16,0.12,0.16,0.17,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,4,0,"ZNF479",1,200,"同义",13103,"0.4967=76/153",null,90827,"7p11.2","NM_033273",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37345",3,3,1,{"$nulls":3},"A有","32629A","ZNF529","chr19:37036003","c.*1765A>C(exon6)","非编码区","rs61396420",0.21,0.19,0.18,0.19,0.33,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF529",1,150,"非编码区",14200,"1.0000=3/3",null,57711,"19q13.13","NM_001145649",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37375",144,144,1,{"$nulls":3},"A有","32629A","ZNF550","chr19:58058536","c.953T>C(exon2)","p.I318T","rs1548476",0.66,0.75,0.71,0.79,0.75,0.75,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF550",1,140,"非同义",12220,"1.0000=155/155",null,162972,"19q13.43","NM_001039654",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37405",155,68,0.44,{"$nulls":3},"A有","32629A","ZNF568","chr19:37441462","c.1407T>C(exon7)","p.T469T","rs546589",0.57,0.31,0.29,0.32,0.32,0.32,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,17,0,"ZNF568",0.97,110,"同义",13203,"0.4182=69/165",null,374900,"19q13.12","NM_198539",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37480",49,49,1,{"$nulls":3},"A有","32629A","ZNF595","chr4:86101-86102","c.706(exon4)_c.707(exon4)insC","p.F237Lfs*?","rs58319295",null,1,1,1,1,1,"纯合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,19,0,"ZNF595",0.99,330,"移码",2130,"1.0000=56/56",null,152687,"4p16.3","NM_182524",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37506",290,290,1,{"$nulls":3},"A有","32629A","ZNF610","chr19:52856955","c.84C>T(exon4)","p.D28D","rs1961205",0.41,0.44,0.44,0.44,0.39,0.39,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF610",1,210,"同义",13203,"1.0000=326/326",null,162963,"19q13.41","NM_001161425",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37539",8,8,1,{"$nulls":3},"A有","32629A","ZNF626","chr19:20806577","c.*519T>G(exon4)","非编码区","rs12150926",0.78,0.82,0.83,0.82,0.77,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,15,0,"ZNF626",0.99,190,"非编码区",14200,"1.0000=9/9",null,199777,"19p12","NM_001076675",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37614",121,121,1,{"$nulls":3},"A有","32629A","ZNF681","chr19:23927468","c.884T>C(exon4)","p.L295S","rs1818989",0.98,1,1,1,1,1,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF681",1,180,"非同义",12220,"1.0000=129/129",null,148213,"19p12","NM_138286",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37669",87,49,0.56,{"$nulls":3},"A有","32629A","ZNF70","chr22:24086107","c.1221T>C(exon2)","p.I407I","rs5759985",0.56,0.69,0.7,0.67,0.68,0.69,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF70",1,100,"同义",13203,"0.5638=53/94",null,7621,"22q11.23","NM_021916",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37675",116,66,0.57,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ZNF713",1,140,"非编码区",16202,"0.5802=76/131",null,349075,"7p11.2","NM_182633",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37744",372,207,0.56,{"$nulls":3},"A有","32629A","ZNF717","chr3:75786773","c.2001A>T(exon5)","p.R667S","rs76175438",{"$nulls":4},0.44,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,170,0,"ZNF717",1,480,"非同义",12310,"0.4807=237/493",null,100131827,"3p12.3","NM_001128223",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37775",274,80,0.29,{"$nulls":3},"A有","32629A","ZNF717","chr3:75787222","c.1552T>C(exon5)","p.C518R","rs200005894",{"$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",{"$nulls":4},3,null,170,0,"ZNF717",1,480,"非同义",12320,"0.2288=70/306",null,100131827,"3p12.3","NM_001128223",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37805",327,172,0.53,{"$nulls":3},"A有","32629A","ZNF717","chr3:75787732","c.1042T>G(exon5)","p.F348V","rs74776730",{"$nulls":4},0.47,null,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,170,0,"ZNF717",1,480,"非同义",12310,"0.5266=188/357",null,100131827,"3p12.3","NM_001128223",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37831",328,179,0.55,{"$nulls":3},"A有","32629A","ZNF717","chr3:75788152","c.622A>G(exon5)","p.T208A","rs76179262",{"$nulls":4},0.43,0,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,170,0,"ZNF717",1,480,"非同义",12320,"0.5575=189/339",null,100131827,"3p12.3","NM_001128223",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37904",116,116,1,{"$nulls":3},"A有","32629A","ZNF763","chr19:12090765","c.*841C>A(exon4)","非编码区","rs279142",0.86,0.7,0.74,0.67,0.65,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF763",1,310,"非编码区",14200,"1.0000=130/130",null,284390,"19p13.2","NM_001012753",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37912",8,3,0.38,{"$nulls":3},"A有","32629A","ZNF765","chr19:53914425","c.*2045C>A(exon4)","非编码区","rs7253508",0.77,0.68,0.7,0.66,0.73,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF765",1,300,"非编码区",14200,"0.4000=4/10",null,91661,"19q13.42","NM_001040185",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37951",44,44,1,{"$nulls":3},"A有","32629A","ZNF77","chr19:2933480","c.*7G>A(exon4)","非编码区","rs3786948",0.67,0.56,0.55,0.57,0.53,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF77",1,100,"非编码区",14200,"1.0000=49/49",null,58492,"19p13.3","NM_021217",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37952",101,101,1,{"$nulls":3},"A有","32629A","ZNF77","chr19:2934282","c.843A>G(exon4)","p.S281S","rs3746073",0.84,0.56,0.55,0.57,0.53,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF77",1,100,"同义",13203,"1.0000=111/111",null,58492,"19p13.3","NM_021217",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37953",144,143,0.99,{"$nulls":3},"A有","32629A","ZNF77","chr19:2936623","c.210G>A(exon3)","p.E70E","rs4807371",0.84,0.56,0.55,0.57,0.53,0.54,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF77",1,100,"同义",13203,"0.9939=163/164",null,58492,"19p13.3","NM_021217",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37954",66,25,0.38,{"$nulls":3},"A有","32629A","ZNF77","chr19:2939254-2939266","c.130+13(exon2)_c.130+25(exon2)delTCATTCCCTCACT","非编码区",{"$nulls":7},"杂合","未知","内含子突变",{"$nulls":4},4,null,8,0,"ZNF77",1,100,"非编码区",2500,"0.3731=25/67",null,58492,"19p13.3","NM_021217",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37955",64,23,0.36,{"$nulls":3},"A有","32629A","ZNF77","chr19:2939268-2939269","c.130+10(exon2)_c.130+11(exon2)insCGTCATTCCCTCACTGCCTCCTTGGGTAAGGGTGG","非编码区",{"$nulls":7},"杂合","未知","内含子突变",{"$nulls":4},4,null,8,0,"ZNF77",1,100,"非编码区",2500,"0.3538=23/65",null,58492,"19p13.3","NM_021217",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37956",76,26,0.34,{"$nulls":3},"A有","32629A","ZNF77","chr19:2939268-2939289","c.120(exon2)_c.130+11(exon2)delTGCCTCCTTGGGTAAGGGTGGT","p.L40Lfs*7",{"$nulls":7},"杂合","较高","理论上这种移码突变会导致突变之后的所有蛋白序列异常变化",{"$nulls":4},1,null,8,0,"ZNF77",1,100,"移码",2140,"0.3291=26/79",null,58492,"19p13.3","NM_021217",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37957",102,55,0.54,{"$nulls":3},"A有","32629A","ZNF77","chr19:2939396","c.13A>G(exon2)","p.I5V","rs12609268",0.18,0.39,0.38,0.39,0.38,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF77",1,100,"非同义",12220,"0.5229=57/109",null,58492,"19p13.3","NM_021217",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37958",96,51,0.53,{"$nulls":3},"A有","32629A","ZNF77","chr19:2939401","c.8G>C(exon2)","p.C3S","rs12610412",0.18,0.39,0.38,0.39,0.38,0.38,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,8,0,"ZNF77",1,100,"非同义",12220,"0.5146=53/103",null,58492,"19p13.3","NM_021217",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37916",39,39,1,{"$nulls":3},"A有","32629A","ZNF770","chr15:35273620","c.2016G>A(exon3)","p.Q672Q","rs4923849",0.47,0.38,0.4,0.37,0.35,0.34,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF770",1,91,"同义",13203,"1.0000=41/41",null,54989,"15q14","NM_014106",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37917",9,9,1,{"$nulls":3},"A有","32629A","ZNF772","chr19:57984426","c.*216G>T(exon5)","非编码区","rs10407042",0.41,0.63,0.6,0.66,0.64,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF772",1,190,"非编码区",14200,"1.0000=9/9",null,400720,"19q13.43","NM_001024596",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37918",171,171,1,{"$nulls":3},"A有","32629A","ZNF772","chr19:57984918","c.1194T>C(exon5)","p.S398S","rs2074058",0.41,0.63,0.6,0.66,0.64,0.63,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF772",1,190,"同义",13203,"1.0000=204/204",null,400720,"19q13.43","NM_001024596",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37919",129,129,1,{"$nulls":3},"A有","32629A","ZNF772","chr19:57985460","c.652A>T(exon5)","p.M218L","rs2074059",null,0.69,0.68,0.71,0.73,0.72,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"ZNF772",1,190,"非同义",12320,"1.0000=141/141",null,400720,"19q13.43","NM_001024596",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37920",152,152,1,{"$nulls":3},"A有","32629A","ZNF772","chr19:57985566","c.546C>G(exon5)","p.C182W","rs2074060",0.68,0.69,0.68,0.71,0.73,0.72,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNF772",1,190,"非同义",12220,"1.0000=171/171",null,400720,"19q13.43","NM_001024596",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37921",74,74,1,{"$nulls":3},"A有","32629A","ZNF772","chr19:57988666-57988667","c.11(exon1)_c.12(exon1)insGGC","p.A4delinsAA","rs528587884",null,0.62,0.59,0.65,0.43,0.63,"纯合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,5,0,"ZNF772",1,190,"非移码",2233,"1.0000=84/84",null,400720,"19q13.43","NM_001024596",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37922",40,18,0.45,{"$nulls":3},"A有","32629A","ZNF773","chr19:58011421","c.-28G>T(exon1)","非编码区","rs12463137",0.26,0.31,0.27,0.35,0.31,0.47,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF773",1,240,"非编码区",14200,"0.5000=24/48",null,374928,"19q13.43","NM_198542",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37923",42,25,0.6,{"$nulls":3},"A有","32629A","ZNF773","chr19:58011447","c.-2C>T(exon1)","非编码区","rs138317120",0.085,0.17,0.19,0.16,0.2,0.25,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF773",1,240,"非编码区",14200,"0.5192=27/52",null,374928,"19q13.43","NM_198542",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37924",267,117,0.44,{"$nulls":3},"A有","32629A","ZNF773","chr19:58018497","c.1034G>A(exon4)","p.S345N","rs190737852",0.0008,0.0072,0.014,0,0.0073,0.0075,"杂合","未知","Provean软件蛋白结构预测容忍或可能无害",{"$nulls":4},3,null,4,0,"ZNF773",1,240,"非同义",12120,"0.4411=131/297",null,374928,"19q13.43","NM_198542",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37925",63,62,0.98,{"$nulls":3},"A有","32629A","ZNF773","chr19:58018848","c.*56A>G(exon4)","非编码区","rs2066936",0.44,0.62,0.58,0.66,0.62,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF773",1,240,"非编码区",14200,"0.9853=67/68",null,374928,"19q13.43","NM_198542",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37926",77,77,1,{"$nulls":3},"A有","32629A","ZNF774","chr15:90903311","c.248A>G(exon4)","p.N83S","rs2589957",0.69,0.84,0.86,0.83,0.83,0.86,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",18817904,{"$nulls":3},5,null,2,0,"ZNF774",1,120,"非同义",12220,"1.0000=85/85",null,342132,"15q26.1","NM_001004309",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37927",122,54,0.44,{"$nulls":3},"A有","32629A","ZNF774","chr15:90903502","c.439G>A(exon4)","p.V147I","rs11854320",0.096,0.058,0.052,0.063,0.054,0.049,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF774",1,120,"非同义",12220,"0.4370=59/135",null,342132,"15q26.1","NM_001004309",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37928",45,18,0.4,{"$nulls":3},"A有","32629A","ZNF775","chr7:150093701","c.132A>C(exon3)","p.I44I","rs940453",0.84,0.81,0.78,0.84,0.77,0.8,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF775",1,27,"同义",13203,"0.3958=19/48",null,285971,"7q36.1","NM_173680",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37929",18,9,0.5,{"$nulls":3},"A有","32629A","ZNF775","chr7:150094851","c.1282A>G(exon3)","p.T428A","rs13225910",0.38,0.45,0.46,0.44,0.45,0.56,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF775",1,27,"非同义",12220,"0.5909=13/22",null,285971,"7q36.1","NM_173680",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37930",5,3,0.6,{"$nulls":3},"A有","32629A","ZNF775","chr7:150095271","c.*88T>C(exon3)","非编码区","rs7393",0.38,0.45,0.46,0.43,0.44,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF775",1,27,"非编码区",14200,"0.6000=3/5",null,285971,"7q36.1","NM_173680",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37931",45,18,0.4,{"$nulls":3},"A有","32629A","ZNF776","chr19:58258466","c.33+7G>T(exon1)","非编码区","rs60751243",0.28,0.47,0.49,0.46,0.47,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF776",1,190,"非编码区",16203,"0.3958=19/48",null,284309,"19q13.43","NM_173632",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37932",105,49,0.47,{"$nulls":3},"A有","32629A","ZNF776","chr19:58264688","c.190C>T(exon3)","p.P64S","rs184557756",1E-3,0.0048,0,0.0097,0.0042,0.0025,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,3,0,"ZNF776",1,190,"非同义",12110,"0.4690=53/113",null,284309,"19q13.43","NM_173632",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37933",14,6,0.43,{"$nulls":3},"A有","32629A","ZNF776","chr19:58266192","c.*137C>T(exon3)","非编码区","rs12609667",0.3,0.45,0.47,0.44,0.44,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF776",1,190,"非编码区",14200,"0.4667=7/15",null,284309,"19q13.43","NM_173632",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37934",22,10,0.45,{"$nulls":3},"A有","32629A","ZNF777","chr7:149129829","c.1534G>A(exon6)","p.A512T","rs17852167",0.15,0.14,0.13,0.16,0.16,0.12,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF777",1,63,"非同义",12220,"0.4583=11/24",null,27153,"7q36.1","NM_015694",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37935",57,57,1,{"$nulls":3},"A有","32629A","ZNF777","chr7:149152770","c.344T>C(exon2)","p.V115A","rs3735319",0.66,0.8,0.83,0.78,0.82,0.83,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF777",1,63,"非同义",12220,"1.0000=58/58",null,27153,"7q36.1","NM_015694",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37936",127,127,1,{"$nulls":3},"A有","32629A","ZNF777","chr7:149152906","c.208C>T(exon2)","p.R70W","rs3735318",0.6,0.8,0.82,0.78,0.81,0.82,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF777",1,63,"非同义",12220,"1.0000=142/142",null,27153,"7q36.1","NM_015694",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37937",69,34,0.49,{"$nulls":3},"A有","32629A","ZNF778","chr16:89287481","c.-55C>A(exon2)","非编码区","rs117976521",0.04,0.082,0.09,0.073,0.08,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,14,0,"ZNF778",1,140,"非编码区",14100,"0.4658=34/73",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37938",169,55,0.33,{"$nulls":3},"A有","32629A","ZNF778","chr16:89289624","c.177G>A(exon4)","p.L59L","rs12920028",0.12,0.1,0.12,0.083,0.1,0.11,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"同义",13203,"0.3109=60/193",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37939",146,78,0.53,{"$nulls":3},"A有","32629A","ZNF778","chr16:89291945-89291946","c.329-18(exon6)_c.329-17(exon6)insT","非编码区","rs11464538",null,0.89,0.88,0.9,0.59,0.86,"杂合","未知","内含子突变",{"$nulls":4},4,null,14,0,"ZNF778",1,140,"非编码区",2500,"0.5521=90/163",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37940",150,82,0.55,{"$nulls":3},"A有","32629A","ZNF778","chr16:89291948","c.329-15C>T(exon6)","非编码区","rs12926996",0.77,0.89,0.88,0.9,0.89,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"非编码区",16202,"0.5595=94/168",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37941",153,84,0.55,{"$nulls":3},"A有","32629A","ZNF778","chr16:89291951","c.329-12C>T(exon6)","非编码区","rs12926997",0.77,0.89,0.88,0.9,0.89,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"非编码区",16202,"0.5614=96/171",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37942",92,39,0.42,{"$nulls":3},"A有","32629A","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",{"$nulls":4},3,null,14,0,"ZNF778",1,140,"非同义",12120,"0.4095=43/105",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37943",109,57,0.52,{"$nulls":3},"A有","32629A","ZNF778","chr16:89293614","c.918A>G(exon7)","p.E306E","rs4785626",0.77,0.89,0.88,0.9,0.89,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"同义",13203,"0.4844=62/128",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37944",126,64,0.51,{"$nulls":3},"A有","32629A","ZNF778","chr16:89294184","c.1488G>A(exon7)","p.A496A","rs4785627",0.77,0.89,0.88,0.9,0.89,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"同义",13203,"0.4894=69/141",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37945",169,77,0.46,{"$nulls":3},"A有","32629A","ZNF778","chr16:89294381","c.1685T>C(exon7)","p.I562T","rs28415940",0.7,0.68,0.68,0.68,0.71,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"非同义",12220,"0.4541=89/196",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37946",147,69,0.47,{"$nulls":3},"A有","32629A","ZNF778","chr16:89294439","c.1743G>T(exon7)","p.Q581H","rs9921361",0.7,0.68,0.68,0.68,0.72,0.71,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"非同义",12220,"0.4578=76/166",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37947",112,57,0.51,{"$nulls":3},"A有","32629A","ZNF778","chr16:89294511","c.1815C>T(exon7)","p.T605T","rs28638280",0.77,0.89,0.88,0.9,0.9,0.88,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"同义",13203,"0.5200=65/125",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37948",144,67,0.47,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"同义",13203,"0.4516=70/155",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37949",139,77,0.55,{"$nulls":3},"A有","32629A","ZNF778","chr16:89294798","c.2102A>G(exon7)","p.Y701C","rs118093429",0.041,0.082,0.09,0.073,0.082,0.086,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,14,0,"ZNF778",1,140,"非同义",12110,"0.5417=78/144",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37950",11,5,0.45,{"$nulls":3},"A有","32629A","ZNF778","chr16:89295046","c.*76T>C(exon7)","非编码区","rs12927047",0.23,0.11,0.12,0.1,0.12,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,14,0,"ZNF778",1,140,"非编码区",14200,"0.4545=5/11",null,197320,"16q24.3","NM_001201407",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37959",6,6,1,{"$nulls":3},"A有","32629A","ZNF780A","chr19:40578253","c.*324T>A(exon9)","非编码区","rs337783",0.99,1,1,1,1,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF780A",1,240,"非编码区",14200,"1.0000=7/7",null,284323,"19q13.2","NM_001142579",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37960",42,28,0.67,{"$nulls":3},"A有","32629A","ZNF780A","chr19:40579842","c.*581G>C(exon6)","非编码区","rs427461",0.35,0.27,0.24,0.3,0.29,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF780A",1,240,"非编码区",14200,"0.6739=31/46",null,284323,"19q13.2","NM_001010880",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37961",109,48,0.44,{"$nulls":3},"A有","32629A","ZNF781","chr19:38159409","c.*657C>T(exon4)","非编码区","rs8108261",0.086,0.084,0.1,0.068,0.11,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF781",1,150,"非编码区",14200,"0.4167=50/120",null,163115,"19q13.12","NM_152605",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37962",81,40,0.49,{"$nulls":3},"A有","32629A","ZNF781","chr19:38159530","c.*536G>A(exon4)","非编码区","rs2927747",0.63,0.4,0.38,0.41,0.4,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF781",1,150,"非编码区",14200,"0.4719=42/89",null,163115,"19q13.12","NM_152605",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37963",134,58,0.43,{"$nulls":3},"A有","32629A","ZNF781","chr19:38160383","c.667A>C(exon4)","p.I223L","rs56281742",0.086,0.084,0.1,0.068,0.11,0.099,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF781",1,150,"非同义",12220,"0.4481=69/154",null,163115,"19q13.12","NM_152605",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37964",74,41,0.55,{"$nulls":3},"A有","32629A","ZNF782","chr9:99580199","c.*6T>C(exon6)","非编码区","rs73654606",0.19,0.22,0.2,0.24,0.22,0.23,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF782",1,140,"非编码区",14200,"0.5325=41/77",null,158431,"9q22.33","NM_001001662",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37965",114,48,0.42,{"$nulls":3},"A有","32629A","ZNF782","chr9:99580834","c.1471T>G(exon6)","p.S491A","rs75989782",0.033,0.096,0.081,0.11,0.098,0.11,"杂合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,4,0,"ZNF782",1,140,"非同义",12110,"0.4167=50/120",null,158431,"9q22.33","NM_001001662",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v37968",38,38,1,{"$nulls":3},"A有","32629A","ZNF792","chr19:35448803","c.*57G>T(exon4)","非编码区","rs1063235",0.65,0.64,0.67,0.62,0.63,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"非编码区",14200,"1.0000=39/39",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37969",110,49,0.45,{"$nulls":3},"A有","32629A","ZNF792","chr19:35449082","c.1677C>T(exon4)","p.D559D","rs3746243",0.26,0.45,0.49,0.41,0.4,0.4,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"同义",13203,"0.4417=53/120",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37970",132,71,0.54,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"同义",13203,"0.5540=77/139",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37971",87,47,0.54,{"$nulls":3},"A有","32629A","ZNF792","chr19:35449760","c.999C>G(exon4)","p.T333T","rs2651080",0.32,0.19,0.18,0.21,0.23,0.22,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"同义",13203,"0.5604=51/91",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37972",74,74,1,{"$nulls":3},"A有","32629A","ZNF792","chr19:35450229","c.530G>A(exon4)","p.R177Q","rs2651079",0.63,0.64,0.66,0.62,0.62,0.62,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"非同义",12220,"1.0000=88/88",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37973",36,36,1,{"$nulls":3},"A有","32629A","ZNF792","chr19:35454604","c.-38T>G(exon1)","非编码区","rs2546028",0.64,0.65,0.67,0.63,0.62,0.61,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"非编码区",14200,"1.0000=40/40",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37974",36,36,1,{"$nulls":3},"A有","32629A","ZNF792","chr19:35454605","c.-39T>C(exon1)","非编码区","rs2546029",0.64,0.65,0.67,0.63,0.62,0.6,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,7,0,"ZNF792",1,110,"非编码区",14200,"1.0000=40/40",null,126375,"19q13.11","NM_175872",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37975",116,54,0.47,{"$nulls":3},"A有","32629A","ZNF793","chr19:38028579","c.1019G>A(exon8)","p.R340H","rs45505797",0.067,0.075,0.076,0.073,0.1,0.088,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF793",1,140,"非同义",12220,"0.4597=57/124",null,390927,"19q13.12","NM_001013659",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37976",3,3,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ZNF793",1,140,"非编码区",14200,"1.0000=3/3",null,390927,"19q13.12","NM_001013659",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37977",172,76,0.44,{"$nulls":3},"A有","32629A","ZNF799","chr19:12502457","c.755T>C(exon4)","p.L252P","rs4804669",0.72,0.54,0.5,0.58,0.53,0.5,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF799",1,250,"非同义",12220,"0.4346=83/191",null,90576,"19p13.2","NM_001080821",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38112",63,34,0.54,{"$nulls":3},"A有","32629A","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,"杂合","未知","内含子突变",{"$nulls":4},4,null,2,0,"ZNF8",1,89,"非编码区",2500,"0.5143=36/70",null,7554,"19q13.43","NM_021089",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38113",130,63,0.48,{"$nulls":3},"A有","32629A","ZNF8","chr19:58806083","c.909T>C(exon4)","p.H303H","rs260471",0.38,0.48,0.41,0.54,0.48,0.46,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF8",1,89,"同义",13203,"0.4966=74/149",null,7554,"19q13.43","NM_021089",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38031",83,36,0.43,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,4,0,"ZNF80",1,110,"非同义",12220,"0.4483=39/87",null,7634,"3q13.3","NM_007136",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38032",92,39,0.42,{"$nulls":3},"A有","32629A","ZNF80","chr3:113955265","c.657C>T(exon1)","p.C219C","rs6438190",0.69,0.56,0.59,0.53,0.53,0.54,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"同义",13203,"0.4257=43/101",null,7634,"3q13.3","NM_007136",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38033",112,53,0.47,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"非同义",12220,"0.4453=57/128",null,7634,"3q13.3","NM_007136",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38034",72,36,0.5,{"$nulls":3},"A有","32629A","ZNF80","chr3:113955820","c.102C>G(exon1)","p.S34S","rs3732780",0.31,0.38,0.42,0.34,0.36,0.37,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF80",1,110,"同义",13203,"0.4353=37/85",null,7634,"3q13.3","NM_007136",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37979",83,83,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"1.0000=94/94",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37980",72,72,1,{"$nulls":3},"A有","32629A","ZNF804A","chr2:185801747","c.1624G>A(exon4)","p.E542K","rs4667001",0.49,0.86,0.89,0.83,0.84,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","19844207;23155182",{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"1.0000=79/79",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37981",71,71,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,8,0,"ZNF804A",1,110,"同义",13203,"1.0000=78/78",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37982",53,53,1,{"$nulls":3},"A有","32629A","ZNF804A","chr2:185801917","c.1794A>G(exon4)","p.K598K","rs728534",0.16,0.25,0.23,0.26,0.24,0.25,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",14681825,{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"同义",13203,"1.0000=59/59",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37983",109,109,1,{"$nulls":3},"A有","32629A","ZNF804A","chr2:185802211-185802212","c.2088(exon4)_c.2089(exon4)insACA","p.N696_T697insT","rs5836928",null,0.86,0.89,0.83,0.53,0.85,"纯合","可能相关","Provean软件蛋白结构预测可能有害",{"$nulls":4},2,null,8,0,"ZNF804A",1,110,"非移码",2231,"1.0000=118/118",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37984",106,106,1,{"$nulls":3},"A有","32629A","ZNF804A","chr2:185802243","c.2120C>A(exon4)","p.T707K","rs1366842",0.49,0.86,0.89,0.83,0.84,0.85,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变","14681825;22871346",{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"1.0000=117/117",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37985",70,70,1,{"$nulls":3},"A有","32629A","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,{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"1.0000=74/74",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37986",50,25,0.5,{"$nulls":3},"A有","32629A","ZNF804A","chr2:185803364","c.3241C>G(exon4)","p.L1081V","rs3731834",0.15,0.21,0.2,0.21,0.2,0.21,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变","14681825;22871346;23155182",{"$nulls":3},5,null,8,0,"ZNF804A",1,110,"非同义",12220,"0.4746=28/59",null,91752,"2q32.1","NM_194250",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37987",246,246,1,{"$nulls":3},"A有","32629A","ZNF804B","chr7:88956699","c.291A>G(exon3)","p.V97V","rs38971",0.31,0.69,0.67,0.7,0.66,0.7,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF804B",1,200,"同义",13203,"1.0000=288/288",null,219578,"7q21.13","NM_181646",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37988",111,111,1,{"$nulls":3},"A有","32629A","ZNF804B","chr7:88963039","c.743G>A(exon4)","p.C248Y","rs1916830",0.15,0.45,0.44,0.47,0.42,0.46,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",20547088,{"$nulls":3},5,null,4,0,"ZNF804B",1,200,"非同义",12210,"1.0000=122/122",null,219578,"7q21.13","NM_181646",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37989",75,75,1,{"$nulls":3},"A有","32629A","ZNF804B","chr7:88964000","c.1704C>T(exon4)","p.F568F","rs801839",0.51,0.68,0.67,0.68,0.64,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF804B",1,200,"同义",13203,"1.0000=87/87",null,219578,"7q21.13","NM_181646",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v37990",105,105,1,{"$nulls":3},"A有","32629A","ZNF804B","chr7:88964196","c.1900T>A(exon4)","p.F634I","rs801840",0.52,0.68,0.67,0.68,0.64,0.69,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,4,0,"ZNF804B",1,200,"非同义",12220,"1.0000=113/113",null,219578,"7q21.13","NM_181646",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38030",56,54,0.96,{"$nulls":3},"A有","32629A","ZNF808","chr19:53059235","c.*354T>G(exon5)","非编码区","rs9676916",0.3,0.5,0.48,0.52,0.43,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF808",1,240,"非编码区",14200,"0.9683=61/63",null,388558,"19q13.41","NM_001039886",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38057",142,68,0.48,{"$nulls":3},"A有","32629A","ZNF81","chrX:47705684","c.18C>T(exon2)","p.D6D","rs145478020",null,0.16,0.15,0.17,0.13,0.17,"杂合","未知","预测范围之外的同义突变",18414213,"智力低下45型",null,300498,4,2,1,1,"ZNF81",1,180,"同义",13303,"0.4706=72/153",null,347344,"Xp11.23","NM_007137",null,"rs145478020|Benign|NA|NA|criteria provided, single submitter|PubMed:18414213",null,null,"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v38073",20,20,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ZNF837",1,24,"非同义",12220,"1.0000=27/27",null,116412,"19q13.43","NM_138466",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38074",83,83,1,{"$nulls":3},"A有","32629A","ZNF839","chr14:102808330","c.2598C>T(exon8)","p.V866V","rs12590618",0.27,0.5,0.53,0.48,0.47,0.5,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF839",0.95,86,"同义",13203,"1.0000=96/96",null,55778,"14q32.31","NM_018335",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38075",5,5,1,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ZNF839",0.95,86,"非编码区",14200,"1.0000=5/5",null,55778,"14q32.31","NM_018335",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38080",264,141,0.53,{"$nulls":3},"A有","32629A","ZNF84","chr12:133617991","c.-63G>A(exon2)","非编码区","rs7961667",{"$nulls":4},0.081,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF84",1,250,"非编码区",14300,"0.5559=174/313",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38081",327,172,0.53,{"$nulls":3},"A有","32629A","ZNF84","chr12:133618022","c.-32G>A(exon2)","非编码区","rs114793246",{"$nulls":4},0.081,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF84",1,250,"非编码区",14300,"0.5417=208/384",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38082",84,38,0.45,{"$nulls":3},"A有","32629A","ZNF84","chr12:133633536","c.239-4A>G(exon5)","非编码区","rs202097614",{"$nulls":4},0.14,null,"杂合","未知","剪切位点预测结果为无害",{"$nulls":4},4,null,5,0,"ZNF84",1,250,"非编码区",16302,"0.4444=40/90",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38083",169,169,1,{"$nulls":3},"A有","32629A","ZNF84","chr12:133634450","c.1149A>C(exon5)","p.A383A","rs623100",{"$nulls":4},1,null,"纯合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,5,0,"ZNF84",1,250,"同义",13303,"1.0000=190/190",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38084",40,40,1,{"$nulls":3},"A有","32629A","ZNF84","chr12:133635613","c.*95T>C(exon5)","非编码区","rs114972238",{"$nulls":4},1,null,"纯合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,5,0,"ZNF84",1,250,"非编码区",14300,"1.0000=45/45",null,7637,"12q24.33","NM_003428",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38076",115,66,0.57,{"$nulls":3},"A有","32629A","ZNF844","chr19:12188326","c.*390C>T(exon4)","非编码区","rs372777656",0.0002,0,0,0,0.0031,null,"杂合","未知","UTR突变可能影响蛋白翻译",{"$nulls":4},3,null,1,0,"ZNF844",1,210,"非编码区",14100,"0.6000=78/130",null,284391,"19p13.2","NM_001136501",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38077",218,129,0.59,{"$nulls":3},"A有","32629A","ZNF845","chr19:53854397","c.469G>C(exon4)","p.E157Q","rs10415799",0.34,0.45,0.48,0.43,0.45,0.49,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF845",1,260,"非同义",12220,"0.5808=151/260",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38078",266,125,0.47,{"$nulls":3},"A有","32629A","ZNF845","chr19:53854753","c.825T>C(exon4)","p.D275D","rs187114554",0.0002,0.0024,0,0.0049,6.3E-3,0.0037,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,3,0,"ZNF845",1,260,"同义",13103,"0.4818=146/303",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38079",235,137,0.58,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,3,0,"ZNF845",1,260,"非同义",12220,"0.5923=154/260",null,91664,"19q13.42","NM_138374",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38090",37,14,0.38,{"$nulls":3},"A有","32629A","ZNF853","chr7:6656830","c.22G>A(exon2)","p.G8R","rs2243563",0.74,0.76,0.76,0.76,0.75,0.78,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,58,"非同义",12220,"0.3953=17/43",null,54753,"7p22.1","NM_017560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38091",37,13,0.35,{"$nulls":3},"A有","32629A","ZNF853","chr7:6656897","c.89A>G(exon2)","p.Q30R","rs1806552",0.77,0.76,0.76,0.77,0.75,0.79,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,58,"非同义",12220,"0.3333=14/42",null,54753,"7p22.1","NM_017560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38092",3,3,1,{"$nulls":3},"A有","32629A","ZNF853","chr7:6662749","c.*147T>C(exon3)","非编码区","rs2462655",0.78,0.86,0.86,0.86,0.74,null,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,3,0,"ZNF853",1,58,"非编码区",14200,"1.0000=3/3",null,54753,"7p22.1","NM_017560",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38093",121,63,0.52,{"$nulls":3},"A有","32629A","ZNF860","chr3:32030544","c.-28C>T(exon2)","非编码区","rs11129475",0.39,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非编码区",14200,"0.5319=75/141",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38094",201,106,0.53,{"$nulls":3},"A有","32629A","ZNF860","chr3:32031024","c.453C>T(exon2)","p.I151I","rs4449357",0.43,0.28,0.27,0.29,0.28,0.29,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"同义",13203,"0.5364=118/220",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38095",182,84,0.46,{"$nulls":3},"A有","32629A","ZNF860","chr3:32031135","c.564A>G(exon2)","p.S188S","rs6419811",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"同义",13203,"0.4537=93/205",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38096",249,119,0.48,{"$nulls":3},"A有","32629A","ZNF860","chr3:32031615","c.1044A>C(exon2)","p.E348D","rs13064905",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非同义",12220,"0.4741=128/270",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38097",249,121,0.49,{"$nulls":3},"A有","32629A","ZNF860","chr3:32031622","c.1051T>C(exon2)","p.F351L","rs13087612",0.47,0.42,0.43,0.4,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非同义",12210,"0.4725=129/273",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38098",261,134,0.51,{"$nulls":3},"A有","32629A","ZNF860","chr3:32031643","c.1072A>G(exon2)","p.T358A","rs13065048",0.47,0.42,0.43,0.41,0.44,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非同义",12220,"0.5000=143/286",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38099",234,126,0.54,{"$nulls":3},"A有","32629A","ZNF860","chr3:32031852","c.1281G>A(exon2)","p.K427K","rs138977513",0.0074,0.036,0.029,0.044,0.042,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,9,0,"ZNF860",1,250,"同义",13103,"0.5423=141/260",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38100",116,65,0.56,{"$nulls":3},"A有","32629A","ZNF860","chr3:32032397","c.1826G>T(exon2)","p.R609L","rs4955216",0.43,0.28,0.27,0.29,0.28,0.42,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非同义",12220,"0.5878=77/131",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38101",6,5,0.83,{"$nulls":3},"A有","32629A","ZNF860","chr3:32032743","c.*273T>G(exon2)","非编码区","rs13094125",0.43,0.28,0.27,0.3,0.28,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,9,0,"ZNF860",1,250,"非编码区",14200,"0.8571=6/7",null,344787,"3p23","NM_001137674",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38102",47,23,0.49,{"$nulls":3},"A有","32629A","ZNF862","chr7:149543269","c.166C>T(exon3)","p.R56C","rs62621204",0.18,0.22,0.25,0.19,0.27,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"非同义",12220,"0.5294=27/51",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38103",78,34,0.44,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"同义",13203,"0.4353=37/85",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38104",96,45,0.47,{"$nulls":3},"A有","32629A","ZNF862","chr7:149556587","c.1194G>A(exon6)","p.G398G","rs185623481",0.0022,0.019,0.014,0.024,0.017,0.036,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,6,0,"ZNF862",1,77,"同义",13103,"0.4717=50/106",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38105",20,8,0.4,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"同义",13203,"0.3913=9/23",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38106",36,12,0.33,{"$nulls":3},"A有","32629A","ZNF862","chr7:149559273","c.3024C>T(exon7)","p.L1008L","rs2074700",0.37,0.33,0.33,0.33,0.32,0.31,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"同义",13203,"0.3077=12/39",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38107",58,31,0.53,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,6,0,"ZNF862",1,77,"同义",13203,"0.5254=31/59",null,643641,"7q36.1","NM_001099220",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38108",129,60,0.47,{"$nulls":3},"A有","32629A","ZNF879","chr5:178459283","c.334A>G(exon5)","p.T112A","rs17078988",0.36,0.46,0.49,0.43,0.42,0.44,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNF879",1,160,"非同义",12220,"0.4591=73/159",null,345462,"5q35.3","NM_001136116",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38109",151,67,0.44,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ZNF879",1,160,"非同义",12220,"0.4343=76/175",null,345462,"5q35.3","NM_001136116",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38110",132,56,0.42,{"$nulls":3},"A有","32629A","ZNF880","chr19:52887382","c.549G>A(exon4)","p.P183P","rs74256648",0.014,0.05,0.043,0.058,0.06,0.09,"杂合","未知","预测范围之外的同义突变",{"$nulls":4},4,null,1,0,"ZNF880",1,200,"同义",13103,"0.4085=67/164",null,400713,"19q13.41","NM_001145434",{"$nulls":4},"位于基因组多拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38111",33,15,0.45,{"$nulls":3},"A有","32629A","ZNF883","chr9:115760561","c.-22G>A(exon5)","非编码区","rs10981590",0.15,0.099,0.11,0.083,0.091,null,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZNF883",1,180,"非编码区",14200,"0.4474=17/38",null,169834,"9q32","NM_001101338",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v38128",99,48,0.48,{"$nulls":3},"A有","32629A","ZNFX1","chr20:47872377","c.2772G>C(exon9)","p.Q924H","rs238221",0.57,0.43,0.43,0.43,0.45,0.51,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,5,0,"ZNFX1",1,84,"非同义",12220,"0.4956=56/113",null,57169,"20q13.13","NM_021035",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v38132",133,57,0.43,{"$nulls":3},"A有","32629A","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",{"$nulls":4},5,null,2,0,"ZNHIT6",1,160,"非编码区",16202,"0.4610=71/154",null,54680,"1p22.3","NM_017953",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
["32629A(745)v38133",37,37,1,{"$nulls":3},"A有","32629A","ZNHIT6","chr1:86173298","c.656+14G>A(exon1)","非编码区","rs1539444",0.44,0.46,0.47,0.45,0.49,0.49,"纯合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,2,0,"ZNHIT6",1,160,"非编码区",16203,"1.0000=39/39",null,54680,"1p22.3","NM_017953",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v38178",99,48,0.48,{"$nulls":3},"A有","32629A","ZSCAN4","chr19:58189287","c.402C>T(exon4)","p.H134H","rs9676604",0.16,0.26,0.29,0.24,0.26,0.26,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",{"$nulls":4},5,null,1,0,"ZSCAN4",1,130,"同义",13203,"0.4679=51/109",null,201516,"19q13.43","NM_152677",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["32629A(745)v38188",105,41,0.39,{"$nulls":3},"A有","32629A","ZSWIM6","chr5:60839907","c.3411C>A(exon14)","p.P1137P","rs16892374",0.075,0.13,0.14,0.13,0.13,0.13,"杂合","无关","有rs号，MAF>=5%，可能为多态性突变",null,"肢端额鼻骨发育不良","AD",603671,5,1,1,1,"ZSWIM6",0.98,100,"同义",13203,"0.4000=46/115",null,57688,"5q12.1","NM_020928",{"$nulls":4},"位于基因组单拷贝区域+DNA结构正常","非阳性"]
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["ABHD1",1,80.3694581280788,0,0,1,0,"是"]
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