Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43063955_43071241del | CA10575957 | BRCA1 | c.4674_5072del c.4677_5075del c.4551_4949del c.4671_5069del c.4599_4997del c.1365_1763del c.1227_1625del c.3789_4187del c.4554_4952del c.4743_5141del c.4536_4934del c.1239_1637del c.4740_5138del c.1064_1462del c.1251_1649del c.*4460_*4858del c.990_1388del c.5-7286_5del c.150_548del c.-98-21047_-98-13761del (n.-98-21047_-98-13761del) n.4813_5211del n.4854_5252del | |
17 | g.43066661_43072815del | CA913190336 | BRCA1 | c.4672+1532_5071+963del c.4675+1532_5074+963del c.4549+1532_4948+963del c.4669+1532_5068+963del c.4597+1532_4996+963del c.1363+1532_1762+963del c.1225+1532_1624+963del c.3787+1532_4186+963del c.4552+1532_4951+963del c.4741+1532_5140+963del c.4534+1532_4933+963del c.1237+1532_1636+963del c.4738+1532_5137+963del c.1062+1532_1461+963del c.1249+1532_1648+963del c.*4458+1532_*4857+963del c.988+1532_1387+963del c.5-8848_5-2694del (n.5-8848_5-2694del) c.148+1532_547+963del c.-98-22609_-98-16455del (n.-98-22609_-98-16455del) n.4811+1532_5210+963del n.4852+1532_5251+963del | ClinVar |
17 | g.43067611_43071241del | CA2581463406 | BRCA1 | c.4673_5071del c.4676_5074del c.4550_4948del c.4670_5068del c.4598_4996del c.1364_1762del c.1226_1624del c.3788_4186del c.4553_4951del c.4742_5140del c.4535_4933del c.1238_1636del c.4739_5137del c.1063_1461del c.1250_1648del c.*4459_*4857del c.989_1387del c.5-7287_5-3657del (n.5-7287_5-3657del) c.149_547del c.-98-21048_-98-17418del (n.-98-21048_-98-17418del) n.4812_5210del n.4853_5251del | |
17 | g.43070037_43072667del | CA10602585 | BRCA1 | c.4673-1420_4983+900del c.4676-1420_4986+900del c.4550-1420_4860+900del c.4670-1420_4980+900del c.4598-1420_4908+900del c.1364-1420_1674+900del c.1226-1420_1536+900del c.3788-1420_4098+900del c.4553-1420_4863+900del c.4742-1420_5052+900del c.4535-1420_4845+900del c.1238-1420_1548+900del c.4739-1420_5049+900del c.1063-1420_1373+900del c.1250-1420_1560+900del c.*4459-1420_*4769+900del c.989-1420_1299+900del c.5-8707_5-6077del (n.5-8707_5-6077del) c.149-1420_459+900del c.-98-22468_-98-19838del (n.-98-22468_-98-19838del) n.4812-1420_5122+900del n.4853-1420_5163+900del | ClinVar |
17 | g.43070145_43072775del | CA2697559917 | BRCA1 | c.4673-1528_4983+792del c.4676-1528_4986+792del c.4550-1528_4860+792del c.4670-1528_4980+792del c.4598-1528_4908+792del c.1364-1528_1674+792del c.1226-1528_1536+792del c.3788-1528_4098+792del c.4553-1528_4863+792del c.4742-1528_5052+792del c.4535-1528_4845+792del c.1238-1528_1548+792del c.4739-1528_5049+792del c.1063-1528_1373+792del c.1250-1528_1560+792del c.*4459-1528_*4769+792del c.989-1528_1299+792del c.5-8815_5-6185del (n.5-8815_5-6185del) c.149-1528_459+792del c.-98-22576_-98-19946del (n.-98-22576_-98-19946del) n.4812-1528_5122+792del n.4853-1528_5163+792del | ClinVar |
17 | g.43070208_43078359dup | CA16043350 | BRCA1 | c.4358-1732_4983+736dup c.4358-1729_4986+736dup c.4232-1729_4860+736dup c.4352-1729_4980+736dup c.4280-1729_4908+736dup c.1046-1729_1674+736dup c.908-1729_1536+736dup c.3470-1729_4098+736dup c.4235-1729_4863+736dup c.4423+991_5052+736dup c.4217-1729_4845+736dup c.923-1732_1548+736dup c.4423+991_5049+736dup c.744+991_1373+736dup c.932-1729_1560+736dup c.*4141-1729_*4769+736dup c.1049-1732_1674+736dup c.671-1729_1299+736dup c.5-14392_5-6241dup (n.5-14392_5-6241dup) c.-43-3822_459+736dup c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup) n.4494-1729_5122+736dup n.4535-1729_5163+736dup | |
17 | g.43070192_43078360dup | CA2580612611 | BRCA1 | c.4358-1749_4983+736dup c.4358-1746_4986+736dup c.4232-1746_4860+736dup c.4352-1746_4980+736dup c.4280-1746_4908+736dup c.1046-1746_1674+736dup c.908-1746_1536+736dup c.3470-1746_4098+736dup c.4235-1746_4863+736dup c.4423+974_5052+736dup c.4217-1746_4845+736dup c.923-1749_1548+736dup c.4423+974_5049+736dup c.744+974_1373+736dup c.932-1746_1560+736dup c.*4141-1746_*4769+736dup c.1049-1749_1674+736dup c.671-1746_1299+736dup c.5-14409_5-6241dup (n.5-14409_5-6241dup) c.-43-3839_459+736dup c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup) n.4494-1746_5122+736dup n.4535-1746_5163+736dup | |
17 | g.43070972_43071054delinsTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA | CA2260772786 | BRCA1 | c.4857_4939delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1619=) c.4860_4942delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1620=) c.4734_4816delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1578=) c.4854_4936delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1618=) c.4782_4864delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1594=) c.1548_1630delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr516=) c.1410_1492delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr470=) c.3972_4054delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1324=) c.4737_4819delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1579=) c.4926_5008delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1642=) c.4719_4801delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1573=) c.1422_1504delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr474=) c.1467_1549delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr489=) c.4923_5005delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1641=) c.1247_1329delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA c.1434_1516delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr478=) c.*4643_*4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.*4643_*4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) n.13_95delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA c.1173_1255delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr391=) c.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) c.333_415delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr111=) c.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) n.4996_5078delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA n.5037_5119delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA | |
17 | g.43070975_43071056del | CA10589635 | BRCA1 | c.4857_4938del (p.Asp1620LysfsTer10) c.4860_4941del (p.Asp1621LysfsTer10) c.4734_4815del (p.Asp1579LysfsTer10) c.4854_4935del (p.Asp1619LysfsTer10) c.4782_4863del (p.Asp1595LysfsTer10) c.1548_1629del (p.Asp517LysfsTer10) c.1410_1491del (p.Asp471LysfsTer10) c.3972_4053del (p.Asp1325LysfsTer10) c.4737_4818del (p.Asp1580LysfsTer10) c.4926_5007del (p.Asp1643LysfsTer10) c.4719_4800del (p.Asp1574LysfsTer10) c.1422_1503del (p.Asp475LysfsTer10) c.1467_1548del (p.Asp490LysfsTer10) c.4923_5004del (p.Asp1642LysfsTer10) c.1247_1328del c.1434_1515del (p.Asp479LysfsTer10) c.*4643_*4724del (n.*4643_*4724del) n.13_94del c.1173_1254del (p.Asp392LysfsTer10) c.5-7103_5-7022del (n.5-7103_5-7022del) c.333_414del (p.Asp112LysfsTer10) c.-98-20864_-98-20783del (n.-98-20864_-98-20783del) n.4996_5077del n.5037_5118del | ClinVar dbSNP |
17 | g.43070975T>A | CA10591646 | BRCA1 | c.4936A>T (p.Asn1646Tyr) c.4939A>T (p.Asn1647Tyr) c.4813A>T (p.Asn1605Tyr) c.4933A>T (p.Asn1645Tyr) c.4861A>T (p.Asn1621Tyr) c.1627A>T (p.Asn543Tyr) c.1489A>T (p.Asn497Tyr) c.4051A>T (p.Asn1351Tyr) c.4816A>T (p.Asn1606Tyr) c.5005A>T (p.Asn1669Tyr) c.4798A>T (p.Asn1600Tyr) c.1501A>T (p.Asn501Tyr) c.1546A>T (p.Asn516Tyr) c.5002A>T (p.Asn1668Tyr) c.1326A>T c.1513A>T (p.Asn505Tyr) c.*4722A>T (n.*4722A>T) n.92A>T c.1252A>T (p.Asn418Tyr) c.5-7024A>T (n.5-7024A>T) c.412A>T (p.Asn138Tyr) c.-98-20785A>T (n.-98-20785A>T) n.5075A>T n.5116A>T | ClinVar dbSNP |
17 | g.43070975T>C | CA10591647 | BRCA1 | c.4936A>G (p.Asn1646Asp) c.4939A>G (p.Asn1647Asp) c.4813A>G (p.Asn1605Asp) c.4933A>G (p.Asn1645Asp) c.4861A>G (p.Asn1621Asp) c.1627A>G (p.Asn543Asp) c.1489A>G (p.Asn497Asp) c.4051A>G (p.Asn1351Asp) c.4816A>G (p.Asn1606Asp) c.5005A>G (p.Asn1669Asp) c.4798A>G (p.Asn1600Asp) c.1501A>G (p.Asn501Asp) c.1546A>G (p.Asn516Asp) c.5002A>G (p.Asn1668Asp) c.1326A>G c.1513A>G (p.Asn505Asp) c.*4722A>G (n.*4722A>G) n.92A>G c.1252A>G (p.Asn418Asp) c.5-7024A>G (n.5-7024A>G) c.412A>G (p.Asn138Asp) c.-98-20785A>G (n.-98-20785A>G) n.5075A>G n.5116A>G | ClinVar dbSNP |
17 | g.43070975T>G | CA10591648 | BRCA1 | c.4936A>C (p.Asn1646His) c.4939A>C (p.Asn1647His) c.4813A>C (p.Asn1605His) c.4933A>C (p.Asn1645His) c.4861A>C (p.Asn1621His) c.1627A>C (p.Asn543His) c.1489A>C (p.Asn497His) c.4051A>C (p.Asn1351His) c.4816A>C (p.Asn1606His) c.5005A>C (p.Asn1669His) c.4798A>C (p.Asn1600His) c.1501A>C (p.Asn501His) c.1546A>C (p.Asn516His) c.5002A>C (p.Asn1668His) c.1326A>C c.1513A>C (p.Asn505His) c.*4722A>C (n.*4722A>C) n.92A>C c.1252A>C (p.Asn418His) c.5-7024A>C (n.5-7024A>C) c.412A>C (p.Asn138His) c.-98-20785A>C (n.-98-20785A>C) n.5075A>C n.5116A>C | ClinVar dbSNP |
17 | g.43070975T= | CA2260772790 | BRCA1 | c.4936A= (p.Asn1646=) c.4939A= (p.Asn1647=) c.4813A= (p.Asn1605=) c.4933A= (p.Asn1645=) c.4861A= (p.Asn1621=) c.1627A= (p.Asn543=) c.1489A= (p.Asn497=) c.4051A= (p.Asn1351=) c.4816A= (p.Asn1606=) c.5005A= (p.Asn1669=) c.4798A= (p.Asn1600=) c.1501A= (p.Asn501=) c.1546A= (p.Asn516=) c.5002A= (p.Asn1668=) c.1326A= c.1513A= (p.Asn505=) c.*4722A= (n.*4722A=) n.92A= c.1252A= (p.Asn418=) c.5-7024A= (n.5-7024A=) c.412A= (p.Asn138=) c.-98-20785A= (n.-98-20785A=) n.5075A= n.5116A= | |
17 | g.43070976G>A | CA500231617 | BRCA1 | c.4935C>T (p.Val1645=) c.4938C>T (p.Val1646=) c.4812C>T (p.Val1604=) c.4932C>T (p.Val1644=) c.4860C>T (p.Val1620=) c.1626C>T (p.Val542=) c.1488C>T (p.Val496=) c.4050C>T (p.Val1350=) c.4815C>T (p.Val1605=) c.5004C>T (p.Val1668=) c.4797C>T (p.Val1599=) c.1500C>T (p.Val500=) c.1545C>T (p.Val515=) c.5001C>T (p.Val1667=) c.1325C>T c.1512C>T (p.Val504=) c.*4721C>T (n.*4721C>T) n.91C>T c.1251C>T (p.Val417=) c.5-7025C>T (n.5-7025C>T) c.411C>T (p.Val137=) c.-98-20786C>T (n.-98-20786C>T) n.5074C>T n.5115C>T | ClinVar dbSNP |
17 | g.43070976G>C | CA500231618 | BRCA1 | c.4935C>G (p.Val1645=) c.4938C>G (p.Val1646=) c.4812C>G (p.Val1604=) c.4932C>G (p.Val1644=) c.4860C>G (p.Val1620=) c.1626C>G (p.Val542=) c.1488C>G (p.Val496=) c.4050C>G (p.Val1350=) c.4815C>G (p.Val1605=) c.5004C>G (p.Val1668=) c.4797C>G (p.Val1599=) c.1500C>G (p.Val500=) c.1545C>G (p.Val515=) c.5001C>G (p.Val1667=) c.1325C>G c.1512C>G (p.Val504=) c.*4721C>G (n.*4721C>G) n.91C>G c.1251C>G (p.Val417=) c.5-7025C>G (n.5-7025C>G) c.411C>G (p.Val137=) c.-98-20786C>G (n.-98-20786C>G) n.5074C>G n.5115C>G | ClinVar dbSNP |
17 | g.43070976G= | CA2260772791 | BRCA1 | c.4935C= (p.Val1645=) c.4938C= (p.Val1646=) c.4812C= (p.Val1604=) c.4932C= (p.Val1644=) c.4860C= (p.Val1620=) c.1626C= (p.Val542=) c.1488C= (p.Val496=) c.4050C= (p.Val1350=) c.4815C= (p.Val1605=) c.5004C= (p.Val1668=) c.4797C= (p.Val1599=) c.1500C= (p.Val500=) c.1545C= (p.Val515=) c.5001C= (p.Val1667=) c.1325C= c.1512C= (p.Val504=) c.*4721C= (n.*4721C=) n.91C= c.1251C= (p.Val417=) c.5-7025C= (n.5-7025C=) c.411C= (p.Val137=) c.-98-20786C= (n.-98-20786C=) n.5074C= n.5115C= | |
17 | g.43070976G>T | CA500231619 | BRCA1 | c.4935C>A (p.Val1645=) c.4938C>A (p.Val1646=) c.4812C>A (p.Val1604=) c.4932C>A (p.Val1644=) c.4860C>A (p.Val1620=) c.1626C>A (p.Val542=) c.1488C>A (p.Val496=) c.4050C>A (p.Val1350=) c.4815C>A (p.Val1605=) c.5004C>A (p.Val1668=) c.4797C>A (p.Val1599=) c.1500C>A (p.Val500=) c.1545C>A (p.Val515=) c.5001C>A (p.Val1667=) c.1325C>A c.1512C>A (p.Val504=) c.*4721C>A (n.*4721C>A) n.91C>A c.1251C>A (p.Val417=) c.5-7025C>A (n.5-7025C>A) c.411C>A (p.Val137=) c.-98-20786C>A (n.-98-20786C>A) n.5074C>A n.5115C>A | ClinVar dbSNP |
17 | g.43070977A= | CA2260772792 | BRCA1 | c.4934T= (p.Val1645=) c.4937T= (p.Val1646=) c.4811T= (p.Val1604=) c.4931T= (p.Val1644=) c.4859T= (p.Val1620=) c.1625T= (p.Val542=) c.1487T= (p.Val496=) c.4049T= (p.Val1350=) c.4814T= (p.Val1605=) c.5003T= (p.Val1668=) c.4796T= (p.Val1599=) c.1499T= (p.Val500=) c.1544T= (p.Val515=) c.5000T= (p.Val1667=) c.1324T= c.1511T= (p.Val504=) c.*4720T= (n.*4720T=) n.90T= c.1250T= (p.Val417=) c.5-7026T= (n.5-7026T=) c.410T= (p.Val137=) c.-98-20787T= (n.-98-20787T=) n.5073T= n.5114T= | |
17 | g.43070977A>C | CA10591649 | BRCA1 | c.4934T>G (p.Val1645Gly) c.4937T>G (p.Val1646Gly) c.4811T>G (p.Val1604Gly) c.4931T>G (p.Val1644Gly) c.4859T>G (p.Val1620Gly) c.1625T>G (p.Val542Gly) c.1487T>G (p.Val496Gly) c.4049T>G (p.Val1350Gly) c.4814T>G (p.Val1605Gly) c.5003T>G (p.Val1668Gly) c.4796T>G (p.Val1599Gly) c.1499T>G (p.Val500Gly) c.1544T>G (p.Val515Gly) c.5000T>G (p.Val1667Gly) c.1324T>G c.1511T>G (p.Val504Gly) c.*4720T>G (n.*4720T>G) n.90T>G c.1250T>G (p.Val417Gly) c.5-7026T>G (n.5-7026T>G) c.410T>G (p.Val137Gly) c.-98-20787T>G (n.-98-20787T>G) n.5073T>G n.5114T>G | ClinVar dbSNP |
17 | g.43070977A>G | CA10591650 | BRCA1 | c.4934T>C (p.Val1645Ala) c.4937T>C (p.Val1646Ala) c.4811T>C (p.Val1604Ala) c.4931T>C (p.Val1644Ala) c.4859T>C (p.Val1620Ala) c.1625T>C (p.Val542Ala) c.1487T>C (p.Val496Ala) c.4049T>C (p.Val1350Ala) c.4814T>C (p.Val1605Ala) c.5003T>C (p.Val1668Ala) c.4796T>C (p.Val1599Ala) c.1499T>C (p.Val500Ala) c.1544T>C (p.Val515Ala) c.5000T>C (p.Val1667Ala) c.1324T>C c.1511T>C (p.Val504Ala) c.*4720T>C (n.*4720T>C) n.90T>C c.1250T>C (p.Val417Ala) c.5-7026T>C (n.5-7026T>C) c.410T>C (p.Val137Ala) c.-98-20787T>C (n.-98-20787T>C) n.5073T>C n.5114T>C | ClinVar dbSNP |
17 | g.43070977A>T | CA10591651 | BRCA1 | c.4934T>A (p.Val1645Asp) c.4937T>A (p.Val1646Asp) c.4811T>A (p.Val1604Asp) c.4931T>A (p.Val1644Asp) c.4859T>A (p.Val1620Asp) c.1625T>A (p.Val542Asp) c.1487T>A (p.Val496Asp) c.4049T>A (p.Val1350Asp) c.4814T>A (p.Val1605Asp) c.5003T>A (p.Val1668Asp) c.4796T>A (p.Val1599Asp) c.1499T>A (p.Val500Asp) c.1544T>A (p.Val515Asp) c.5000T>A (p.Val1667Asp) c.1324T>A c.1511T>A (p.Val504Asp) c.*4720T>A (n.*4720T>A) n.90T>A c.1250T>A (p.Val417Asp) c.5-7026T>A (n.5-7026T>A) c.410T>A (p.Val137Asp) c.-98-20787T>A (n.-98-20787T>A) n.5073T>A n.5114T>A | ClinVar dbSNP |
17 | g.43070977_43070978delinsAC | CA2260772793 | BRCA1 | c.4933_4934delinsGT (p.Val1645=) c.4936_4937delinsGT (p.Val1646=) c.4810_4811delinsGT (p.Val1604=) c.4930_4931delinsGT (p.Val1644=) c.4858_4859delinsGT (p.Val1620=) c.1624_1625delinsGT (p.Val542=) c.1486_1487delinsGT (p.Val496=) c.4048_4049delinsGT (p.Val1350=) c.4813_4814delinsGT (p.Val1605=) c.5002_5003delinsGT (p.Val1668=) c.4795_4796delinsGT (p.Val1599=) c.1498_1499delinsGT (p.Val500=) c.1543_1544delinsGT (p.Val515=) c.4999_5000delinsGT (p.Val1667=) c.1323_1324delinsGT c.1510_1511delinsGT (p.Val504=) c.*4719_*4720delinsGT (n.*4719_*4720delinsGT) n.89_90delinsGT c.1249_1250delinsGT (p.Val417=) c.5-7027_5-7026delinsGT (n.5-7027_5-7026delinsGT) c.409_410delinsGT (p.Val137=) c.-98-20788_-98-20787delinsGT (n.-98-20788_-98-20787delinsGT) n.5072_5073delinsGT n.5113_5114delinsGT | |
17 | g.43070978C>A | CA10591652 | BRCA1 | c.4933G>T (p.Val1645Phe) c.4936G>T (p.Val1646Phe) c.4810G>T (p.Val1604Phe) c.4930G>T (p.Val1644Phe) c.4858G>T (p.Val1620Phe) c.1624G>T (p.Val542Phe) c.1486G>T (p.Val496Phe) c.4048G>T (p.Val1350Phe) c.4813G>T (p.Val1605Phe) c.5002G>T (p.Val1668Phe) c.4795G>T (p.Val1599Phe) c.1498G>T (p.Val500Phe) c.1543G>T (p.Val515Phe) c.4999G>T (p.Val1667Phe) c.1323G>T c.1510G>T (p.Val504Phe) c.*4719G>T (n.*4719G>T) n.89G>T c.1249G>T (p.Val417Phe) c.5-7027G>T (n.5-7027G>T) c.409G>T (p.Val137Phe) c.-98-20788G>T (n.-98-20788G>T) n.5072G>T n.5113G>T | ClinVar dbSNP |
17 | g.43070978C= | CA2260772794 | BRCA1 | c.4933G= (p.Val1645=) c.4936G= (p.Val1646=) c.4810G= (p.Val1604=) c.4930G= (p.Val1644=) c.4858G= (p.Val1620=) c.1624G= (p.Val542=) c.1486G= (p.Val496=) c.4048G= (p.Val1350=) c.4813G= (p.Val1605=) c.5002G= (p.Val1668=) c.4795G= (p.Val1599=) c.1498G= (p.Val500=) c.1543G= (p.Val515=) c.4999G= (p.Val1667=) c.1323G= c.1510G= (p.Val504=) c.*4719G= (n.*4719G=) n.89G= c.1249G= (p.Val417=) c.5-7027G= (n.5-7027G=) c.409G= (p.Val137=) c.-98-20788G= (n.-98-20788G=) n.5072G= n.5113G= | |
17 | g.43070978C>G | CA10591653 | BRCA1 | c.4933G>C (p.Val1645Leu) c.4936G>C (p.Val1646Leu) c.4810G>C (p.Val1604Leu) c.4930G>C (p.Val1644Leu) c.4858G>C (p.Val1620Leu) c.1624G>C (p.Val542Leu) c.1486G>C (p.Val496Leu) c.4048G>C (p.Val1350Leu) c.4813G>C (p.Val1605Leu) c.5002G>C (p.Val1668Leu) c.4795G>C (p.Val1599Leu) c.1498G>C (p.Val500Leu) c.1543G>C (p.Val515Leu) c.4999G>C (p.Val1667Leu) c.1323G>C c.1510G>C (p.Val504Leu) c.*4719G>C (n.*4719G>C) n.89G>C c.1249G>C (p.Val417Leu) c.5-7027G>C (n.5-7027G>C) c.409G>C (p.Val137Leu) c.-98-20788G>C (n.-98-20788G>C) n.5072G>C n.5113G>C | ClinVar dbSNP |
17 | g.43070978C>T | CA10591654 | BRCA1 | c.4933G>A (p.Val1645Ile) c.4936G>A (p.Val1646Ile) c.4810G>A (p.Val1604Ile) c.4930G>A (p.Val1644Ile) c.4858G>A (p.Val1620Ile) c.1624G>A (p.Val542Ile) c.1486G>A (p.Val496Ile) c.4048G>A (p.Val1350Ile) c.4813G>A (p.Val1605Ile) c.5002G>A (p.Val1668Ile) c.4795G>A (p.Val1599Ile) c.1498G>A (p.Val500Ile) c.1543G>A (p.Val515Ile) c.4999G>A (p.Val1667Ile) c.1323G>A c.1510G>A (p.Val504Ile) c.*4719G>A (n.*4719G>A) n.89G>A c.1249G>A (p.Val417Ile) c.5-7027G>A (n.5-7027G>A) c.409G>A (p.Val137Ile) c.-98-20788G>A (n.-98-20788G>A) n.5072G>A n.5113G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43070980dup | CA2695195948 | BRCA1 | c.4933dup (p.Val1645GlyfsTer?) c.4936dup (p.Val1646GlyfsTer?) c.4810dup (p.Val1604GlyfsTer?) c.4930dup (p.Val1644GlyfsTer?) c.4858dup (p.Val1620GlyfsTer?) c.1624dup (p.Val542GlyfsTer?) c.1486dup (p.Val496GlyfsTer?) c.4048dup (p.Val1350GlyfsTer?) c.4813dup (p.Val1605GlyfsTer?) c.5002dup (p.Val1668GlyfsTer?) c.4795dup (p.Val1599GlyfsTer?) c.1498dup (p.Val500GlyfsTer?) c.1543dup (p.Val515GlyfsTer29) c.4999dup (p.Val1667GlyfsTer?) c.1323dup c.1510dup (p.Val504GlyfsTer?) c.*4719dup (n.*4719dup) n.89dup c.1249dup (p.Val417GlyfsTer?) c.5-7027dup (n.5-7027dup) c.409dup (p.Val137GlyfsTer?) c.-98-20788dup (n.-98-20788dup) n.5072dup n.5113dup | |
17 | g.43070980del | CA003086 | BRCA1 | c.4933del (p.Val1645SerfsTer12) c.4936del (p.Val1646SerfsTer12) c.4810del (p.Val1604SerfsTer12) c.4930del (p.Val1644SerfsTer12) c.4858del (p.Val1620SerfsTer12) c.1624del (p.Val542SerfsTer12) c.1486del (p.Val496SerfsTer12) c.4048del (p.Val1350SerfsTer12) c.4813del (p.Val1605SerfsTer12) c.5002del (p.Val1668SerfsTer12) c.4795del (p.Val1599SerfsTer12) c.1498del (p.Val500SerfsTer12) c.1543del (p.Val515SerfsTer12) c.4999del (p.Val1667SerfsTer12) c.1323del c.1510del (p.Val504SerfsTer12) c.*4719del (n.*4719del) n.89del c.1249del (p.Val417SerfsTer12) c.5-7027del (n.5-7027del) c.409del (p.Val137SerfsTer12) c.-98-20788del (n.-98-20788del) n.5072del n.5113del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43070978_43070979insTT | CA658825002 | BRCA1 | c.4932_4933insAA (p.Val1645LysfsTer13) c.4935_4936insAA (p.Val1646LysfsTer13) c.4809_4810insAA (p.Val1604LysfsTer13) c.4929_4930insAA (p.Val1644LysfsTer13) c.4857_4858insAA (p.Val1620LysfsTer13) c.1623_1624insAA (p.Val542LysfsTer13) c.1485_1486insAA (p.Val496LysfsTer13) c.4047_4048insAA (p.Val1350LysfsTer13) c.4812_4813insAA (p.Val1605LysfsTer13) c.5001_5002insAA (p.Val1668LysfsTer13) c.4794_4795insAA (p.Val1599LysfsTer13) c.1497_1498insAA (p.Val500LysfsTer13) c.1542_1543insAA (p.Val515LysfsTer13) c.4998_4999insAA (p.Val1667LysfsTer13) c.1322_1323insAA c.1509_1510insAA (p.Val504LysfsTer13) c.*4718_*4719insAA (n.*4718_*4719insAA) n.88_89insAA c.1248_1249insAA (p.Val417LysfsTer13) c.5-7028_5-7027insAA (n.5-7028_5-7027insAA) c.408_409insAA (p.Val137LysfsTer13) c.-98-20789_-98-20788insAA (n.-98-20789_-98-20788insAA) n.5071_5072insAA n.5112_5113insAA | ClinVar dbSNP |
17 | g.43070979C>A | CA10591655 | BRCA1 | c.4932G>T (p.Arg1644Ser) c.4935G>T (p.Arg1645Ser) c.4809G>T (p.Arg1603Ser) c.4929G>T (p.Arg1643Ser) c.4857G>T (p.Arg1619Ser) c.1623G>T (p.Arg541Ser) c.1485G>T (p.Arg495Ser) c.4047G>T (p.Arg1349Ser) c.4812G>T (p.Arg1604Ser) c.5001G>T (p.Arg1667Ser) c.4794G>T (p.Arg1598Ser) c.1497G>T (p.Arg499Ser) c.1542G>T (p.Arg514Ser) c.4998G>T (p.Arg1666Ser) c.1322G>T c.1509G>T (p.Arg503Ser) c.*4718G>T (n.*4718G>T) n.88G>T c.1248G>T (p.Arg416Ser) c.5-7028G>T (n.5-7028G>T) c.408G>T (p.Arg136Ser) c.-98-20789G>T (n.-98-20789G>T) n.5071G>T n.5112G>T | ClinVar dbSNP |
17 | g.43070979C= | CA2260772795 | BRCA1 | c.4932G= (p.Arg1644=) c.4935G= (p.Arg1645=) c.4809G= (p.Arg1603=) c.4929G= (p.Arg1643=) c.4857G= (p.Arg1619=) c.1623G= (p.Arg541=) c.1485G= (p.Arg495=) c.4047G= (p.Arg1349=) c.4812G= (p.Arg1604=) c.5001G= (p.Arg1667=) c.4794G= (p.Arg1598=) c.1497G= (p.Arg499=) c.1542G= (p.Arg514=) c.4998G= (p.Arg1666=) c.1322G= c.1509G= (p.Arg503=) c.*4718G= (n.*4718G=) n.88G= c.1248G= (p.Arg416=) c.5-7028G= (n.5-7028G=) c.408G= (p.Arg136=) c.-98-20789G= (n.-98-20789G=) n.5071G= n.5112G= | |
17 | g.43070979C>G | CA003089 | BRCA1 | c.4932G>C (p.Arg1644Ser) c.4935G>C (p.Arg1645Ser) c.4809G>C (p.Arg1603Ser) c.4929G>C (p.Arg1643Ser) c.4857G>C (p.Arg1619Ser) c.1623G>C (p.Arg541Ser) c.1485G>C (p.Arg495Ser) c.4047G>C (p.Arg1349Ser) c.4812G>C (p.Arg1604Ser) c.5001G>C (p.Arg1667Ser) c.4794G>C (p.Arg1598Ser) c.1497G>C (p.Arg499Ser) c.1542G>C (p.Arg514Ser) c.4998G>C (p.Arg1666Ser) c.1322G>C c.1509G>C (p.Arg503Ser) c.*4718G>C (n.*4718G>C) n.88G>C c.1248G>C (p.Arg416Ser) c.5-7028G>C (n.5-7028G>C) c.408G>C (p.Arg136Ser) c.-98-20789G>C (n.-98-20789G>C) n.5071G>C n.5112G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43070979C>T | CA500231627 | BRCA1 | c.4932G>A (p.Arg1644=) c.4935G>A (p.Arg1645=) c.4809G>A (p.Arg1603=) c.4929G>A (p.Arg1643=) c.4857G>A (p.Arg1619=) c.1623G>A (p.Arg541=) c.1485G>A (p.Arg495=) c.4047G>A (p.Arg1349=) c.4812G>A (p.Arg1604=) c.5001G>A (p.Arg1667=) c.4794G>A (p.Arg1598=) c.1497G>A (p.Arg499=) c.1542G>A (p.Arg514=) c.4998G>A (p.Arg1666=) c.1322G>A c.1509G>A (p.Arg503=) c.*4718G>A (n.*4718G>A) n.88G>A c.1248G>A (p.Arg416=) c.5-7028G>A (n.5-7028G>A) c.408G>A (p.Arg136=) c.-98-20789G>A (n.-98-20789G>A) n.5071G>A n.5112G>A | ClinVar dbSNP |
17 | g.43070979_43070980insTTGTC | CA2733912913 | BRCA1 | c.4932_4933insACAAG (p.Val1645ThrfsTer14) c.4935_4936insACAAG (p.Val1646ThrfsTer14) c.4809_4810insACAAG (p.Val1604ThrfsTer14) c.4929_4930insACAAG (p.Val1644ThrfsTer14) c.4857_4858insACAAG (p.Val1620ThrfsTer14) c.1623_1624insACAAG (p.Val542ThrfsTer14) c.1485_1486insACAAG (p.Val496ThrfsTer14) c.4047_4048insACAAG (p.Val1350ThrfsTer14) c.4812_4813insACAAG (p.Val1605ThrfsTer14) c.5001_5002insACAAG (p.Val1668ThrfsTer14) c.4794_4795insACAAG (p.Val1599ThrfsTer14) c.1497_1498insACAAG (p.Val500ThrfsTer14) c.1542_1543insACAAG (p.Val515ThrfsTer14) c.4998_4999insACAAG (p.Val1667ThrfsTer14) c.1322_1323insACAAG c.1509_1510insACAAG (p.Val504ThrfsTer14) c.*4718_*4719insACAAG (n.*4718_*4719insACAAG) n.88_89insACAAG c.1248_1249insACAAG (p.Val417ThrfsTer14) c.5-7028_5-7027insACAAG (n.5-7028_5-7027insACAAG) c.408_409insACAAG (p.Val137ThrfsTer14) c.-98-20789_-98-20788insACAAG (n.-98-20789_-98-20788insACAAG) n.5071_5072insACAAG n.5112_5113insACAAG | dbSNP |
17 | g.43070979_43070980insTT | CA645373140 | BRCA1 | c.4931_4932insAA (p.Val1645ArgfsTer13) c.4934_4935insAA (p.Val1646ArgfsTer13) c.4808_4809insAA (p.Val1604ArgfsTer13) c.4928_4929insAA (p.Val1644ArgfsTer13) c.4856_4857insAA (p.Val1620ArgfsTer13) c.1622_1623insAA (p.Val542ArgfsTer13) c.1484_1485insAA (p.Val496ArgfsTer13) c.4046_4047insAA (p.Val1350ArgfsTer13) c.4811_4812insAA (p.Val1605ArgfsTer13) c.5000_5001insAA (p.Val1668ArgfsTer13) c.4793_4794insAA (p.Val1599ArgfsTer13) c.1496_1497insAA (p.Val500ArgfsTer13) c.1541_1542insAA (p.Val515ArgfsTer13) c.4997_4998insAA (p.Val1667ArgfsTer13) c.1321_1322insAA c.1508_1509insAA (p.Val504ArgfsTer13) c.*4717_*4718insAA (n.*4717_*4718insAA) n.87_88insAA c.1247_1248insAA (p.Val417ArgfsTer13) c.5-7029_5-7028insAA (n.5-7029_5-7028insAA) c.407_408insAA (p.Val137ArgfsTer13) c.-98-20790_-98-20789insAA (n.-98-20790_-98-20789insAA) n.5070_5071insAA n.5111_5112insAA | ClinVar dbSNP |
17 | g.43070980C>A | CA003088 | BRCA1 | c.4931G>T (p.Arg1644Met) c.4934G>T (p.Arg1645Met) c.4808G>T (p.Arg1603Met) c.4928G>T (p.Arg1643Met) c.4856G>T (p.Arg1619Met) c.1622G>T (p.Arg541Met) c.1484G>T (p.Arg495Met) c.4046G>T (p.Arg1349Met) c.4811G>T (p.Arg1604Met) c.5000G>T (p.Arg1667Met) c.4793G>T (p.Arg1598Met) c.1496G>T (p.Arg499Met) c.1541G>T (p.Arg514Met) c.4997G>T (p.Arg1666Met) c.1321G>T c.1508G>T (p.Arg503Met) c.*4717G>T (n.*4717G>T) n.87G>T c.1247G>T (p.Arg416Met) c.5-7029G>T (n.5-7029G>T) c.407G>T (p.Arg136Met) c.-98-20790G>T (n.-98-20790G>T) n.5070G>T n.5111G>T | ClinVar dbSNP |
17 | g.43070980C= | CA2260772796 | BRCA1 | c.4931G= (p.Arg1644=) c.4934G= (p.Arg1645=) c.4808G= (p.Arg1603=) c.4928G= (p.Arg1643=) c.4856G= (p.Arg1619=) c.1622G= (p.Arg541=) c.1484G= (p.Arg495=) c.4046G= (p.Arg1349=) c.4811G= (p.Arg1604=) c.5000G= (p.Arg1667=) c.4793G= (p.Arg1598=) c.1496G= (p.Arg499=) c.1541G= (p.Arg514=) c.4997G= (p.Arg1666=) c.1321G= c.1508G= (p.Arg503=) c.*4717G= (n.*4717G=) n.87G= c.1247G= (p.Arg416=) c.5-7029G= (n.5-7029G=) c.407G= (p.Arg136=) c.-98-20790G= (n.-98-20790G=) n.5070G= n.5111G= | |
17 | g.43070980C>G | CA003087 | BRCA1 | c.4931G>C (p.Arg1644Thr) c.4934G>C (p.Arg1645Thr) c.4808G>C (p.Arg1603Thr) c.4928G>C (p.Arg1643Thr) c.4856G>C (p.Arg1619Thr) c.1622G>C (p.Arg541Thr) c.1484G>C (p.Arg495Thr) c.4046G>C (p.Arg1349Thr) c.4811G>C (p.Arg1604Thr) c.5000G>C (p.Arg1667Thr) c.4793G>C (p.Arg1598Thr) c.1496G>C (p.Arg499Thr) c.1541G>C (p.Arg514Thr) c.4997G>C (p.Arg1666Thr) c.1321G>C c.1508G>C (p.Arg503Thr) c.*4717G>C (n.*4717G>C) n.87G>C c.1247G>C (p.Arg416Thr) c.5-7029G>C (n.5-7029G>C) c.407G>C (p.Arg136Thr) c.-98-20790G>C (n.-98-20790G>C) n.5070G>C n.5111G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43070980C>T | CA10591656 | BRCA1 | c.4931G>A (p.Arg1644Lys) c.4934G>A (p.Arg1645Lys) c.4808G>A (p.Arg1603Lys) c.4928G>A (p.Arg1643Lys) c.4856G>A (p.Arg1619Lys) c.1622G>A (p.Arg541Lys) c.1484G>A (p.Arg495Lys) c.4046G>A (p.Arg1349Lys) c.4811G>A (p.Arg1604Lys) c.5000G>A (p.Arg1667Lys) c.4793G>A (p.Arg1598Lys) c.1496G>A (p.Arg499Lys) c.1541G>A (p.Arg514Lys) c.4997G>A (p.Arg1666Lys) c.1321G>A c.1508G>A (p.Arg503Lys) c.*4717G>A (n.*4717G>A) n.87G>A c.1247G>A (p.Arg416Lys) c.5-7029G>A (n.5-7029G>A) c.407G>A (p.Arg136Lys) c.-98-20790G>A (n.-98-20790G>A) n.5070G>A n.5111G>A | ClinVar dbSNP |
17 | g.43070981T>A | CA10591657 | BRCA1 | c.4930A>T (p.Arg1644Trp) c.4933A>T (p.Arg1645Trp) c.4807A>T (p.Arg1603Trp) c.4927A>T (p.Arg1643Trp) c.4855A>T (p.Arg1619Trp) c.1621A>T (p.Arg541Trp) c.1483A>T (p.Arg495Trp) c.4045A>T (p.Arg1349Trp) c.4810A>T (p.Arg1604Trp) c.4999A>T (p.Arg1667Trp) c.4792A>T (p.Arg1598Trp) c.1495A>T (p.Arg499Trp) c.1540A>T (p.Arg514Trp) c.4996A>T (p.Arg1666Trp) c.1320A>T c.1507A>T (p.Arg503Trp) c.*4716A>T (n.*4716A>T) n.86A>T c.1246A>T (p.Arg416Trp) c.5-7030A>T (n.5-7030A>T) c.406A>T (p.Arg136Trp) c.-98-20791A>T (n.-98-20791A>T) n.5069A>T n.5110A>T | ClinVar dbSNP |
17 | g.43070981T>C | CA003084 | BRCA1 | c.4930A>G (p.Arg1644Gly) c.4933A>G (p.Arg1645Gly) c.4807A>G (p.Arg1603Gly) c.4927A>G (p.Arg1643Gly) c.4855A>G (p.Arg1619Gly) c.1621A>G (p.Arg541Gly) c.1483A>G (p.Arg495Gly) c.4045A>G (p.Arg1349Gly) c.4810A>G (p.Arg1604Gly) c.4999A>G (p.Arg1667Gly) c.4792A>G (p.Arg1598Gly) c.1495A>G (p.Arg499Gly) c.1540A>G (p.Arg514Gly) c.4996A>G (p.Arg1666Gly) c.1320A>G c.1507A>G (p.Arg503Gly) c.*4716A>G (n.*4716A>G) n.86A>G c.1246A>G (p.Arg416Gly) c.5-7030A>G (n.5-7030A>G) c.406A>G (p.Arg136Gly) c.-98-20791A>G (n.-98-20791A>G) n.5069A>G n.5110A>G | ClinVar dbSNP |
17 | g.43070981T>G | CA500231628 | BRCA1 | c.4930A>C (p.Arg1644=) c.4933A>C (p.Arg1645=) c.4807A>C (p.Arg1603=) c.4927A>C (p.Arg1643=) c.4855A>C (p.Arg1619=) c.1621A>C (p.Arg541=) c.1483A>C (p.Arg495=) c.4045A>C (p.Arg1349=) c.4810A>C (p.Arg1604=) c.4999A>C (p.Arg1667=) c.4792A>C (p.Arg1598=) c.1495A>C (p.Arg499=) c.1540A>C (p.Arg514=) c.4996A>C (p.Arg1666=) c.1320A>C c.1507A>C (p.Arg503=) c.*4716A>C (n.*4716A>C) n.86A>C c.1246A>C (p.Arg416=) c.5-7030A>C (n.5-7030A>C) c.406A>C (p.Arg136=) c.-98-20791A>C (n.-98-20791A>C) n.5069A>C n.5110A>C | ClinVar dbSNP |
17 | g.43070981T= | CA2260772797 | BRCA1 | c.4930A= (p.Arg1644=) c.4933A= (p.Arg1645=) c.4807A= (p.Arg1603=) c.4927A= (p.Arg1643=) c.4855A= (p.Arg1619=) c.1621A= (p.Arg541=) c.1483A= (p.Arg495=) c.4045A= (p.Arg1349=) c.4810A= (p.Arg1604=) c.4999A= (p.Arg1667=) c.4792A= (p.Arg1598=) c.1495A= (p.Arg499=) c.1540A= (p.Arg514=) c.4996A= (p.Arg1666=) c.1320A= c.1507A= (p.Arg503=) c.*4716A= (n.*4716A=) n.86A= c.1246A= (p.Arg416=) c.5-7030A= (n.5-7030A=) c.406A= (p.Arg136=) c.-98-20791A= (n.-98-20791A=) n.5069A= n.5110A= | |
17 | g.43070982_43070983dup | CA003083 | BRCA1 | c.4929_4930dup (p.Arg1644LysfsTer14) c.4932_4933dup (p.Arg1645LysfsTer14) c.4806_4807dup (p.Arg1603LysfsTer14) c.4926_4927dup (p.Arg1643LysfsTer14) c.4854_4855dup (p.Arg1619LysfsTer14) c.1620_1621dup (p.Arg541LysfsTer14) c.1482_1483dup (p.Arg495LysfsTer14) c.4044_4045dup (p.Arg1349LysfsTer14) c.4809_4810dup (p.Arg1604LysfsTer14) c.4998_4999dup (p.Arg1667LysfsTer14) c.4791_4792dup (p.Arg1598LysfsTer14) c.1494_1495dup (p.Arg499LysfsTer14) c.1539_1540dup (p.Arg514LysfsTer14) c.4995_4996dup (p.Arg1666LysfsTer14) c.1319_1320dup c.1506_1507dup (p.Arg503LysfsTer14) c.*4715_*4716dup (n.*4715_*4716dup) n.85_86dup c.1245_1246dup (p.Arg416LysfsTer14) c.5-7031_5-7030dup (n.5-7031_5-7030dup) c.405_406dup (p.Arg136LysfsTer14) c.-98-20792_-98-20791dup (n.-98-20792_-98-20791dup) n.5068_5069dup n.5109_5110dup | ClinVar dbSNP |
17 | g.43070983del | CA1139768351 | BRCA1 | c.4930del (p.Arg1644GlyfsTer13) c.4933del (p.Arg1645GlyfsTer13) c.4807del (p.Arg1603GlyfsTer13) c.4927del (p.Arg1643GlyfsTer13) c.4855del (p.Arg1619GlyfsTer13) c.1621del (p.Arg541GlyfsTer13) c.1483del (p.Arg495GlyfsTer13) c.4045del (p.Arg1349GlyfsTer13) c.4810del (p.Arg1604GlyfsTer13) c.4999del (p.Arg1667GlyfsTer13) c.4792del (p.Arg1598GlyfsTer13) c.1495del (p.Arg499GlyfsTer13) c.1540del (p.Arg514GlyfsTer13) c.4996del (p.Arg1666GlyfsTer13) c.1320del c.1507del (p.Arg503GlyfsTer13) c.*4716del (n.*4716del) n.86del c.1246del (p.Arg416GlyfsTer13) c.5-7030del (n.5-7030del) c.406del (p.Arg136GlyfsTer13) c.-98-20791del (n.-98-20791del) n.5069del n.5110del | ClinVar dbSNP |
17 | g.43070982T>A | CA10591658 | BRCA1 | c.4929A>T (p.Glu1643Asp) c.4932A>T (p.Glu1644Asp) c.4806A>T (p.Glu1602Asp) c.4926A>T (p.Glu1642Asp) c.4854A>T (p.Glu1618Asp) c.1620A>T (p.Glu540Asp) c.1482A>T (p.Glu494Asp) c.4044A>T (p.Glu1348Asp) c.4809A>T (p.Glu1603Asp) c.4998A>T (p.Glu1666Asp) c.4791A>T (p.Glu1597Asp) c.1494A>T (p.Glu498Asp) c.1539A>T (p.Glu513Asp) c.4995A>T (p.Glu1665Asp) c.1319A>T c.1506A>T (p.Glu502Asp) c.*4715A>T (n.*4715A>T) n.85A>T c.1245A>T (p.Glu415Asp) c.5-7031A>T (n.5-7031A>T) c.405A>T (p.Glu135Asp) c.-98-20792A>T (n.-98-20792A>T) n.5068A>T n.5109A>T | ClinVar dbSNP |
17 | g.43070982T>C | CA500231630 | BRCA1 | c.4929A>G (p.Glu1643=) c.4932A>G (p.Glu1644=) c.4806A>G (p.Glu1602=) c.4926A>G (p.Glu1642=) c.4854A>G (p.Glu1618=) c.1620A>G (p.Glu540=) c.1482A>G (p.Glu494=) c.4044A>G (p.Glu1348=) c.4809A>G (p.Glu1603=) c.4998A>G (p.Glu1666=) c.4791A>G (p.Glu1597=) c.1494A>G (p.Glu498=) c.1539A>G (p.Glu513=) c.4995A>G (p.Glu1665=) c.1319A>G c.1506A>G (p.Glu502=) c.*4715A>G (n.*4715A>G) n.85A>G c.1245A>G (p.Glu415=) c.5-7031A>G (n.5-7031A>G) c.405A>G (p.Glu135=) c.-98-20792A>G (n.-98-20792A>G) n.5068A>G n.5109A>G | ClinVar dbSNP |
17 | g.43070982T>G | CA10591659 | BRCA1 | c.4929A>C (p.Glu1643Asp) c.4932A>C (p.Glu1644Asp) c.4806A>C (p.Glu1602Asp) c.4926A>C (p.Glu1642Asp) c.4854A>C (p.Glu1618Asp) c.1620A>C (p.Glu540Asp) c.1482A>C (p.Glu494Asp) c.4044A>C (p.Glu1348Asp) c.4809A>C (p.Glu1603Asp) c.4998A>C (p.Glu1666Asp) c.4791A>C (p.Glu1597Asp) c.1494A>C (p.Glu498Asp) c.1539A>C (p.Glu513Asp) c.4995A>C (p.Glu1665Asp) c.1319A>C c.1506A>C (p.Glu502Asp) c.*4715A>C (n.*4715A>C) n.85A>C c.1245A>C (p.Glu415Asp) c.5-7031A>C (n.5-7031A>C) c.405A>C (p.Glu135Asp) c.-98-20792A>C (n.-98-20792A>C) n.5068A>C n.5109A>C | ClinVar dbSNP |
17 | g.43070982T= | CA2260772799 | BRCA1 | c.4929A= (p.Glu1643=) c.4932A= (p.Glu1644=) c.4806A= (p.Glu1602=) c.4926A= (p.Glu1642=) c.4854A= (p.Glu1618=) c.1620A= (p.Glu540=) c.1482A= (p.Glu494=) c.4044A= (p.Glu1348=) c.4809A= (p.Glu1603=) c.4998A= (p.Glu1666=) c.4791A= (p.Glu1597=) c.1494A= (p.Glu498=) c.1539A= (p.Glu513=) c.4995A= (p.Glu1665=) c.1319A= c.1506A= (p.Glu502=) c.*4715A= (n.*4715A=) n.85A= c.1245A= (p.Glu415=) c.5-7031A= (n.5-7031A=) c.405A= (p.Glu135=) c.-98-20792A= (n.-98-20792A=) n.5068A= n.5109A= | |
17 | g.43070982_43070984delinsTTC | CA2260772798 | BRCA1 | c.4927_4929delinsGAA (p.Glu1643=) c.4930_4932delinsGAA (p.Glu1644=) c.4804_4806delinsGAA (p.Glu1602=) c.4924_4926delinsGAA (p.Glu1642=) c.4852_4854delinsGAA (p.Glu1618=) c.1618_1620delinsGAA (p.Glu540=) c.1480_1482delinsGAA (p.Glu494=) c.4042_4044delinsGAA (p.Glu1348=) c.4807_4809delinsGAA (p.Glu1603=) c.4996_4998delinsGAA (p.Glu1666=) c.4789_4791delinsGAA (p.Glu1597=) c.1492_1494delinsGAA (p.Glu498=) c.1537_1539delinsGAA (p.Glu513=) c.4993_4995delinsGAA (p.Glu1665=) c.1317_1319delinsGAA c.1504_1506delinsGAA (p.Glu502=) c.*4713_*4715delinsGAA (n.*4713_*4715delinsGAA) n.83_85delinsGAA c.1243_1245delinsGAA (p.Glu415=) c.5-7033_5-7031delinsGAA (n.5-7033_5-7031delinsGAA) c.403_405delinsGAA (p.Glu135=) c.-98-20794_-98-20792delinsGAA (n.-98-20794_-98-20792delinsGAA) n.5066_5068delinsGAA n.5107_5109delinsGAA | |
17 | g.43070983T>A | CA10591660 | BRCA1 | c.4928A>T (p.Glu1643Val) c.4931A>T (p.Glu1644Val) c.4805A>T (p.Glu1602Val) c.4925A>T (p.Glu1642Val) c.4853A>T (p.Glu1618Val) c.1619A>T (p.Glu540Val) c.1481A>T (p.Glu494Val) c.4043A>T (p.Glu1348Val) c.4808A>T (p.Glu1603Val) c.4997A>T (p.Glu1666Val) c.4790A>T (p.Glu1597Val) c.1493A>T (p.Glu498Val) c.1538A>T (p.Glu513Val) c.4994A>T (p.Glu1665Val) c.1318A>T c.1505A>T (p.Glu502Val) c.*4714A>T (n.*4714A>T) n.84A>T c.1244A>T (p.Glu415Val) c.5-7032A>T (n.5-7032A>T) c.404A>T (p.Glu135Val) c.-98-20793A>T (n.-98-20793A>T) n.5067A>T n.5108A>T | ClinVar dbSNP |
17 | g.43070983T>C | CA003082 | BRCA1 | c.4928A>G (p.Glu1643Gly) c.4931A>G (p.Glu1644Gly) c.4805A>G (p.Glu1602Gly) c.4925A>G (p.Glu1642Gly) c.4853A>G (p.Glu1618Gly) c.1619A>G (p.Glu540Gly) c.1481A>G (p.Glu494Gly) c.4043A>G (p.Glu1348Gly) c.4808A>G (p.Glu1603Gly) c.4997A>G (p.Glu1666Gly) c.4790A>G (p.Glu1597Gly) c.1493A>G (p.Glu498Gly) c.1538A>G (p.Glu513Gly) c.4994A>G (p.Glu1665Gly) c.1318A>G c.1505A>G (p.Glu502Gly) c.*4714A>G (n.*4714A>G) n.84A>G c.1244A>G (p.Glu415Gly) c.5-7032A>G (n.5-7032A>G) c.404A>G (p.Glu135Gly) c.-98-20793A>G (n.-98-20793A>G) n.5067A>G n.5108A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43070983T>G | CA10591661 | BRCA1 | c.4928A>C (p.Glu1643Ala) c.4931A>C (p.Glu1644Ala) c.4805A>C (p.Glu1602Ala) c.4925A>C (p.Glu1642Ala) c.4853A>C (p.Glu1618Ala) c.1619A>C (p.Glu540Ala) c.1481A>C (p.Glu494Ala) c.4043A>C (p.Glu1348Ala) c.4808A>C (p.Glu1603Ala) c.4997A>C (p.Glu1666Ala) c.4790A>C (p.Glu1597Ala) c.1493A>C (p.Glu498Ala) c.1538A>C (p.Glu513Ala) c.4994A>C (p.Glu1665Ala) c.1318A>C c.1505A>C (p.Glu502Ala) c.*4714A>C (n.*4714A>C) n.84A>C c.1244A>C (p.Glu415Ala) c.5-7032A>C (n.5-7032A>C) c.404A>C (p.Glu135Ala) c.-98-20793A>C (n.-98-20793A>C) n.5067A>C n.5108A>C | ClinVar dbSNP |
17 | g.43070983T= | CA2260772800 | BRCA1 | c.4928A= (p.Glu1643=) c.4931A= (p.Glu1644=) c.4805A= (p.Glu1602=) c.4925A= (p.Glu1642=) c.4853A= (p.Glu1618=) c.1619A= (p.Glu540=) c.1481A= (p.Glu494=) c.4043A= (p.Glu1348=) c.4808A= (p.Glu1603=) c.4997A= (p.Glu1666=) c.4790A= (p.Glu1597=) c.1493A= (p.Glu498=) c.1538A= (p.Glu513=) c.4994A= (p.Glu1665=) c.1318A= c.1505A= (p.Glu502=) c.*4714A= (n.*4714A=) n.84A= c.1244A= (p.Glu415=) c.5-7032A= (n.5-7032A=) c.404A= (p.Glu135=) c.-98-20793A= (n.-98-20793A=) n.5067A= n.5108A= | |
17 | g.43070984_43070985del | CA919844185 | BRCA1 | c.4927_4928del (p.Glu1643LysfsTer?) c.4930_4931del (p.Glu1644LysfsTer?) c.4804_4805del (p.Glu1602LysfsTer?) c.4924_4925del (p.Glu1642LysfsTer?) c.4852_4853del (p.Glu1618LysfsTer?) c.1618_1619del (p.Glu540LysfsTer?) c.1480_1481del (p.Glu494LysfsTer?) c.4042_4043del (p.Glu1348LysfsTer?) c.4807_4808del (p.Glu1603LysfsTer?) c.4996_4997del (p.Glu1666LysfsTer?) c.4789_4790del (p.Glu1597LysfsTer?) c.1492_1493del (p.Glu498LysfsTer?) c.1537_1538del (p.Glu513LysfsTer30) c.4993_4994del (p.Glu1665LysfsTer?) c.1317_1318del c.1504_1505del (p.Glu502LysfsTer?) c.*4713_*4714del (n.*4713_*4714del) n.83_84del c.1243_1244del (p.Glu415LysfsTer?) c.5-7033_5-7032del (n.5-7033_5-7032del) c.403_404del (p.Glu135LysfsTer?) c.-98-20794_-98-20793del (n.-98-20794_-98-20793del) n.5066_5067del n.5107_5108del | dbSNP |
17 | g.43070984C>A | CA003081 | BRCA1 | c.4927G>T (p.Glu1643Ter) c.4930G>T (p.Glu1644Ter) c.4804G>T (p.Glu1602Ter) c.4924G>T (p.Glu1642Ter) c.4852G>T (p.Glu1618Ter) c.1618G>T (p.Glu540Ter) c.1480G>T (p.Glu494Ter) c.4042G>T (p.Glu1348Ter) c.4807G>T (p.Glu1603Ter) c.4996G>T (p.Glu1666Ter) c.4789G>T (p.Glu1597Ter) c.1492G>T (p.Glu498Ter) c.1537G>T (p.Glu513Ter) c.4993G>T (p.Glu1665Ter) c.1317G>T c.1504G>T (p.Glu502Ter) c.*4713G>T (n.*4713G>T) n.83G>T c.1243G>T (p.Glu415Ter) c.5-7033G>T (n.5-7033G>T) c.403G>T (p.Glu135Ter) c.-98-20794G>T (n.-98-20794G>T) n.5066G>T n.5107G>T | ClinVar dbSNP COSMIC |
17 | g.43070984C= | CA2260772801 | BRCA1 | c.4927G= (p.Glu1643=) c.4930G= (p.Glu1644=) c.4804G= (p.Glu1602=) c.4924G= (p.Glu1642=) c.4852G= (p.Glu1618=) c.1618G= (p.Glu540=) c.1480G= (p.Glu494=) c.4042G= (p.Glu1348=) c.4807G= (p.Glu1603=) c.4996G= (p.Glu1666=) c.4789G= (p.Glu1597=) c.1492G= (p.Glu498=) c.1537G= (p.Glu513=) c.4993G= (p.Glu1665=) c.1317G= c.1504G= (p.Glu502=) c.*4713G= (n.*4713G=) n.83G= c.1243G= (p.Glu415=) c.5-7033G= (n.5-7033G=) c.403G= (p.Glu135=) c.-98-20794G= (n.-98-20794G=) n.5066G= n.5107G= | |
17 | g.43070984C>G | CA10591662 | BRCA1 | c.4927G>C (p.Glu1643Gln) c.4930G>C (p.Glu1644Gln) c.4804G>C (p.Glu1602Gln) c.4924G>C (p.Glu1642Gln) c.4852G>C (p.Glu1618Gln) c.1618G>C (p.Glu540Gln) c.1480G>C (p.Glu494Gln) c.4042G>C (p.Glu1348Gln) c.4807G>C (p.Glu1603Gln) c.4996G>C (p.Glu1666Gln) c.4789G>C (p.Glu1597Gln) c.1492G>C (p.Glu498Gln) c.1537G>C (p.Glu513Gln) c.4993G>C (p.Glu1665Gln) c.1317G>C c.1504G>C (p.Glu502Gln) c.*4713G>C (n.*4713G>C) n.83G>C c.1243G>C (p.Glu415Gln) c.5-7033G>C (n.5-7033G>C) c.403G>C (p.Glu135Gln) c.-98-20794G>C (n.-98-20794G>C) n.5066G>C n.5107G>C | ClinVar dbSNP |
17 | g.43070984C>T | CA10591663 | BRCA1 | c.4927G>A (p.Glu1643Lys) c.4930G>A (p.Glu1644Lys) c.4804G>A (p.Glu1602Lys) c.4924G>A (p.Glu1642Lys) c.4852G>A (p.Glu1618Lys) c.1618G>A (p.Glu540Lys) c.1480G>A (p.Glu494Lys) c.4042G>A (p.Glu1348Lys) c.4807G>A (p.Glu1603Lys) c.4996G>A (p.Glu1666Lys) c.4789G>A (p.Glu1597Lys) c.1492G>A (p.Glu498Lys) c.1537G>A (p.Glu513Lys) c.4993G>A (p.Glu1665Lys) c.1317G>A c.1504G>A (p.Glu502Lys) c.*4713G>A (n.*4713G>A) n.83G>A c.1243G>A (p.Glu415Lys) c.5-7033G>A (n.5-7033G>A) c.403G>A (p.Glu135Lys) c.-98-20794G>A (n.-98-20794G>A) n.5066G>A n.5107G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43070985del | CA2580094006 | BRCA1 | c.4926del (p.Glu1643LysfsTer14) c.4929del (p.Glu1644LysfsTer14) c.4803del (p.Glu1602LysfsTer14) c.4923del (p.Glu1642LysfsTer14) c.4851del (p.Glu1618LysfsTer14) c.1617del (p.Glu540LysfsTer14) c.1479del (p.Glu494LysfsTer14) c.4041del (p.Glu1348LysfsTer14) c.4806del (p.Glu1603LysfsTer14) c.4995del (p.Glu1666LysfsTer14) c.4788del (p.Glu1597LysfsTer14) c.1491del (p.Glu498LysfsTer14) c.1536del (p.Glu513LysfsTer14) c.4992del (p.Glu1665LysfsTer14) c.1316del c.1503del (p.Glu502LysfsTer14) c.*4712del (n.*4712del) n.82del c.1242del (p.Glu415LysfsTer14) c.5-7034del (n.5-7034del) c.402del (p.Glu135LysfsTer14) c.-98-20795del (n.-98-20795del) n.5065del n.5106del | ClinVar |
17 | g.43070985T>A | CA500231637 | BRCA1 | c.4926A>T (p.Thr1642=) c.4929A>T (p.Thr1643=) c.4803A>T (p.Thr1601=) c.4923A>T (p.Thr1641=) c.4851A>T (p.Thr1617=) c.1617A>T (p.Thr539=) c.1479A>T (p.Thr493=) c.4041A>T (p.Thr1347=) c.4806A>T (p.Thr1602=) c.4995A>T (p.Thr1665=) c.4788A>T (p.Thr1596=) c.1491A>T (p.Thr497=) c.1536A>T (p.Thr512=) c.4992A>T (p.Thr1664=) c.1316A>T c.1503A>T (p.Thr501=) c.*4712A>T (n.*4712A>T) n.82A>T c.1242A>T (p.Thr414=) c.5-7034A>T (n.5-7034A>T) c.402A>T (p.Thr134=) c.-98-20795A>T (n.-98-20795A>T) n.5065A>T n.5106A>T | ClinVar dbSNP |
17 | g.43070985T>C | CA500231639 | BRCA1 | c.4926A>G (p.Thr1642=) c.4929A>G (p.Thr1643=) c.4803A>G (p.Thr1601=) c.4923A>G (p.Thr1641=) c.4851A>G (p.Thr1617=) c.1617A>G (p.Thr539=) c.1479A>G (p.Thr493=) c.4041A>G (p.Thr1347=) c.4806A>G (p.Thr1602=) c.4995A>G (p.Thr1665=) c.4788A>G (p.Thr1596=) c.1491A>G (p.Thr497=) c.1536A>G (p.Thr512=) c.4992A>G (p.Thr1664=) c.1316A>G c.1503A>G (p.Thr501=) c.*4712A>G (n.*4712A>G) n.82A>G c.1242A>G (p.Thr414=) c.5-7034A>G (n.5-7034A>G) c.402A>G (p.Thr134=) c.-98-20795A>G (n.-98-20795A>G) n.5065A>G n.5106A>G | ClinVar dbSNP |
17 | g.43070985T>G | CA003080 | BRCA1 | c.4926A>C (p.Thr1642=) c.4929A>C (p.Thr1643=) c.4803A>C (p.Thr1601=) c.4923A>C (p.Thr1641=) c.4851A>C (p.Thr1617=) c.1617A>C (p.Thr539=) c.1479A>C (p.Thr493=) c.4041A>C (p.Thr1347=) c.4806A>C (p.Thr1602=) c.4995A>C (p.Thr1665=) c.4788A>C (p.Thr1596=) c.1491A>C (p.Thr497=) c.1536A>C (p.Thr512=) c.4992A>C (p.Thr1664=) c.1316A>C c.1503A>C (p.Thr501=) c.*4712A>C (n.*4712A>C) n.82A>C c.1242A>C (p.Thr414=) c.5-7034A>C (n.5-7034A>C) c.402A>C (p.Thr134=) c.-98-20795A>C (n.-98-20795A>C) n.5065A>C n.5106A>C | ClinVar dbSNP |
17 | g.43070985T= | CA2260772802 | BRCA1 | c.4926A= (p.Thr1642=) c.4929A= (p.Thr1643=) c.4803A= (p.Thr1601=) c.4923A= (p.Thr1641=) c.4851A= (p.Thr1617=) c.1617A= (p.Thr539=) c.1479A= (p.Thr493=) c.4041A= (p.Thr1347=) c.4806A= (p.Thr1602=) c.4995A= (p.Thr1665=) c.4788A= (p.Thr1596=) c.1491A= (p.Thr497=) c.1536A= (p.Thr512=) c.4992A= (p.Thr1664=) c.1316A= c.1503A= (p.Thr501=) c.*4712A= (n.*4712A=) n.82A= c.1242A= (p.Thr414=) c.5-7034A= (n.5-7034A=) c.402A= (p.Thr134=) c.-98-20795A= (n.-98-20795A=) n.5065A= n.5106A= | |
17 | g.43070986G>A | CA10591664 | BRCA1 | c.4925C>T (p.Thr1642Ile) c.4928C>T (p.Thr1643Ile) c.4802C>T (p.Thr1601Ile) c.4922C>T (p.Thr1641Ile) c.4850C>T (p.Thr1617Ile) c.1616C>T (p.Thr539Ile) c.1478C>T (p.Thr493Ile) c.4040C>T (p.Thr1347Ile) c.4805C>T (p.Thr1602Ile) c.4994C>T (p.Thr1665Ile) c.4787C>T (p.Thr1596Ile) c.1490C>T (p.Thr497Ile) c.1535C>T (p.Thr512Ile) c.4991C>T (p.Thr1664Ile) c.1315C>T c.1502C>T (p.Thr501Ile) c.*4711C>T (n.*4711C>T) n.81C>T c.1241C>T (p.Thr414Ile) c.5-7035C>T (n.5-7035C>T) c.401C>T (p.Thr134Ile) c.-98-20796C>T (n.-98-20796C>T) n.5064C>T n.5105C>T | ClinVar dbSNP |
17 | g.43070986G>C | CA10591665 | BRCA1 | c.4925C>G (p.Thr1642Arg) c.4928C>G (p.Thr1643Arg) c.4802C>G (p.Thr1601Arg) c.4922C>G (p.Thr1641Arg) c.4850C>G (p.Thr1617Arg) c.1616C>G (p.Thr539Arg) c.1478C>G (p.Thr493Arg) c.4040C>G (p.Thr1347Arg) c.4805C>G (p.Thr1602Arg) c.4994C>G (p.Thr1665Arg) c.4787C>G (p.Thr1596Arg) c.1490C>G (p.Thr497Arg) c.1535C>G (p.Thr512Arg) c.4991C>G (p.Thr1664Arg) c.1315C>G c.1502C>G (p.Thr501Arg) c.*4711C>G (n.*4711C>G) n.81C>G c.1241C>G (p.Thr414Arg) c.5-7035C>G (n.5-7035C>G) c.401C>G (p.Thr134Arg) c.-98-20796C>G (n.-98-20796C>G) n.5064C>G n.5105C>G | ClinVar dbSNP |
17 | g.43070986G= | CA2260772803 | BRCA1 | c.4925C= (p.Thr1642=) c.4928C= (p.Thr1643=) c.4802C= (p.Thr1601=) c.4922C= (p.Thr1641=) c.4850C= (p.Thr1617=) c.1616C= (p.Thr539=) c.1478C= (p.Thr493=) c.4040C= (p.Thr1347=) c.4805C= (p.Thr1602=) c.4994C= (p.Thr1665=) c.4787C= (p.Thr1596=) c.1490C= (p.Thr497=) c.1535C= (p.Thr512=) c.4991C= (p.Thr1664=) c.1315C= c.1502C= (p.Thr501=) c.*4711C= (n.*4711C=) n.81C= c.1241C= (p.Thr414=) c.5-7035C= (n.5-7035C=) c.401C= (p.Thr134=) c.-98-20796C= (n.-98-20796C=) n.5064C= n.5105C= | |
17 | g.43070986G>T | CA10591666 | BRCA1 | c.4925C>A (p.Thr1642Lys) c.4928C>A (p.Thr1643Lys) c.4802C>A (p.Thr1601Lys) c.4922C>A (p.Thr1641Lys) c.4850C>A (p.Thr1617Lys) c.1616C>A (p.Thr539Lys) c.1478C>A (p.Thr493Lys) c.4040C>A (p.Thr1347Lys) c.4805C>A (p.Thr1602Lys) c.4994C>A (p.Thr1665Lys) c.4787C>A (p.Thr1596Lys) c.1490C>A (p.Thr497Lys) c.1535C>A (p.Thr512Lys) c.4991C>A (p.Thr1664Lys) c.1315C>A c.1502C>A (p.Thr501Lys) c.*4711C>A (n.*4711C>A) n.81C>A c.1241C>A (p.Thr414Lys) c.5-7035C>A (n.5-7035C>A) c.401C>A (p.Thr134Lys) c.-98-20796C>A (n.-98-20796C>A) n.5064C>A n.5105C>A | ClinVar dbSNP |
17 | g.43070987T>A | CA10591667 | BRCA1 | c.4924A>T (p.Thr1642Ser) c.4927A>T (p.Thr1643Ser) c.4801A>T (p.Thr1601Ser) c.4921A>T (p.Thr1641Ser) c.4849A>T (p.Thr1617Ser) c.1615A>T (p.Thr539Ser) c.1477A>T (p.Thr493Ser) c.4039A>T (p.Thr1347Ser) c.4804A>T (p.Thr1602Ser) c.4993A>T (p.Thr1665Ser) c.4786A>T (p.Thr1596Ser) c.1489A>T (p.Thr497Ser) c.1534A>T (p.Thr512Ser) c.4990A>T (p.Thr1664Ser) c.1314A>T c.1501A>T (p.Thr501Ser) c.*4710A>T (n.*4710A>T) n.80A>T c.1240A>T (p.Thr414Ser) c.5-7036A>T (n.5-7036A>T) c.400A>T (p.Thr134Ser) c.-98-20797A>T (n.-98-20797A>T) n.5063A>T n.5104A>T | ClinVar dbSNP |
17 | g.43070987T>C | CA10591668 | BRCA1 | c.4924A>G (p.Thr1642Ala) c.4927A>G (p.Thr1643Ala) c.4801A>G (p.Thr1601Ala) c.4921A>G (p.Thr1641Ala) c.4849A>G (p.Thr1617Ala) c.1615A>G (p.Thr539Ala) c.1477A>G (p.Thr493Ala) c.4039A>G (p.Thr1347Ala) c.4804A>G (p.Thr1602Ala) c.4993A>G (p.Thr1665Ala) c.4786A>G (p.Thr1596Ala) c.1489A>G (p.Thr497Ala) c.1534A>G (p.Thr512Ala) c.4990A>G (p.Thr1664Ala) c.1314A>G c.1501A>G (p.Thr501Ala) c.*4710A>G (n.*4710A>G) n.80A>G c.1240A>G (p.Thr414Ala) c.5-7036A>G (n.5-7036A>G) c.400A>G (p.Thr134Ala) c.-98-20797A>G (n.-98-20797A>G) n.5063A>G n.5104A>G | ClinVar dbSNP |
17 | g.43070987T>G | CA10591669 | BRCA1 | c.4924A>C (p.Thr1642Pro) c.4927A>C (p.Thr1643Pro) c.4801A>C (p.Thr1601Pro) c.4921A>C (p.Thr1641Pro) c.4849A>C (p.Thr1617Pro) c.1615A>C (p.Thr539Pro) c.1477A>C (p.Thr493Pro) c.4039A>C (p.Thr1347Pro) c.4804A>C (p.Thr1602Pro) c.4993A>C (p.Thr1665Pro) c.4786A>C (p.Thr1596Pro) c.1489A>C (p.Thr497Pro) c.1534A>C (p.Thr512Pro) c.4990A>C (p.Thr1664Pro) c.1314A>C c.1501A>C (p.Thr501Pro) c.*4710A>C (n.*4710A>C) n.80A>C c.1240A>C (p.Thr414Pro) c.5-7036A>C (n.5-7036A>C) c.400A>C (p.Thr134Pro) c.-98-20797A>C (n.-98-20797A>C) n.5063A>C n.5104A>C | ClinVar dbSNP |
17 | g.43070987T= | CA2260772804 | BRCA1 | c.4924A= (p.Thr1642=) c.4927A= (p.Thr1643=) c.4801A= (p.Thr1601=) c.4921A= (p.Thr1641=) c.4849A= (p.Thr1617=) c.1615A= (p.Thr539=) c.1477A= (p.Thr493=) c.4039A= (p.Thr1347=) c.4804A= (p.Thr1602=) c.4993A= (p.Thr1665=) c.4786A= (p.Thr1596=) c.1489A= (p.Thr497=) c.1534A= (p.Thr512=) c.4990A= (p.Thr1664=) c.1314A= c.1501A= (p.Thr501=) c.*4710A= (n.*4710A=) n.80A= c.1240A= (p.Thr414=) c.5-7036A= (n.5-7036A=) c.400A= (p.Thr134=) c.-98-20797A= (n.-98-20797A=) n.5063A= n.5104A= | |
17 | g.43070988T>A | CA500231647 | BRCA1 | c.4923A>T (p.Ser1641=) c.4926A>T (p.Ser1642=) c.4800A>T (p.Ser1600=) c.4920A>T (p.Ser1640=) c.4848A>T (p.Ser1616=) c.1614A>T (p.Ser538=) c.1476A>T (p.Ser492=) c.4038A>T (p.Ser1346=) c.4803A>T (p.Ser1601=) c.4992A>T (p.Ser1664=) c.4785A>T (p.Ser1595=) c.1488A>T (p.Ser496=) c.1533A>T (p.Ser511=) c.4989A>T (p.Ser1663=) c.1313A>T c.1500A>T (p.Ser500=) c.*4709A>T (n.*4709A>T) n.79A>T c.1239A>T (p.Ser413=) c.5-7037A>T (n.5-7037A>T) c.399A>T (p.Ser133=) c.-98-20798A>T (n.-98-20798A>T) n.5062A>T n.5103A>T | ClinVar dbSNP |
17 | g.43070988T>C | CA500231644 | BRCA1 | c.4923A>G (p.Ser1641=) c.4926A>G (p.Ser1642=) c.4800A>G (p.Ser1600=) c.4920A>G (p.Ser1640=) c.4848A>G (p.Ser1616=) c.1614A>G (p.Ser538=) c.1476A>G (p.Ser492=) c.4038A>G (p.Ser1346=) c.4803A>G (p.Ser1601=) c.4992A>G (p.Ser1664=) c.4785A>G (p.Ser1595=) c.1488A>G (p.Ser496=) c.1533A>G (p.Ser511=) c.4989A>G (p.Ser1663=) c.1313A>G c.1500A>G (p.Ser500=) c.*4709A>G (n.*4709A>G) n.79A>G c.1239A>G (p.Ser413=) c.5-7037A>G (n.5-7037A>G) c.399A>G (p.Ser133=) c.-98-20798A>G (n.-98-20798A>G) n.5062A>G n.5103A>G | ClinVar dbSNP |
17 | g.43070988T>G | CA500231645 | BRCA1 | c.4923A>C (p.Ser1641=) c.4926A>C (p.Ser1642=) c.4800A>C (p.Ser1600=) c.4920A>C (p.Ser1640=) c.4848A>C (p.Ser1616=) c.1614A>C (p.Ser538=) c.1476A>C (p.Ser492=) c.4038A>C (p.Ser1346=) c.4803A>C (p.Ser1601=) c.4992A>C (p.Ser1664=) c.4785A>C (p.Ser1595=) c.1488A>C (p.Ser496=) c.1533A>C (p.Ser511=) c.4989A>C (p.Ser1663=) c.1313A>C c.1500A>C (p.Ser500=) c.*4709A>C (n.*4709A>C) n.79A>C c.1239A>C (p.Ser413=) c.5-7037A>C (n.5-7037A>C) c.399A>C (p.Ser133=) c.-98-20798A>C (n.-98-20798A>C) n.5062A>C n.5103A>C | ClinVar dbSNP |
17 | g.43070988T= | CA2260772805 | BRCA1 | c.4923A= (p.Ser1641=) c.4926A= (p.Ser1642=) c.4800A= (p.Ser1600=) c.4920A= (p.Ser1640=) c.4848A= (p.Ser1616=) c.1614A= (p.Ser538=) c.1476A= (p.Ser492=) c.4038A= (p.Ser1346=) c.4803A= (p.Ser1601=) c.4992A= (p.Ser1664=) c.4785A= (p.Ser1595=) c.1488A= (p.Ser496=) c.1533A= (p.Ser511=) c.4989A= (p.Ser1663=) c.1313A= c.1500A= (p.Ser500=) c.*4709A= (n.*4709A=) n.79A= c.1239A= (p.Ser413=) c.5-7037A= (n.5-7037A=) c.399A= (p.Ser133=) c.-98-20798A= (n.-98-20798A=) n.5062A= n.5103A= | |
17 | g.43070989G>A | CA10591670 | BRCA1 | c.4922C>T (p.Ser1641Leu) c.4925C>T (p.Ser1642Leu) c.4799C>T (p.Ser1600Leu) c.4919C>T (p.Ser1640Leu) c.4847C>T (p.Ser1616Leu) c.1613C>T (p.Ser538Leu) c.1475C>T (p.Ser492Leu) c.4037C>T (p.Ser1346Leu) c.4802C>T (p.Ser1601Leu) c.4991C>T (p.Ser1664Leu) c.4784C>T (p.Ser1595Leu) c.1487C>T (p.Ser496Leu) c.1532C>T (p.Ser511Leu) c.4988C>T (p.Ser1663Leu) c.1312C>T c.1499C>T (p.Ser500Leu) c.*4708C>T (n.*4708C>T) n.78C>T c.1238C>T (p.Ser413Leu) c.5-7038C>T (n.5-7038C>T) c.398C>T (p.Ser133Leu) c.-98-20799C>T (n.-98-20799C>T) n.5061C>T n.5102C>T | ClinVar dbSNP |
17 | g.43070989G>C | CA10591671 | BRCA1 | c.4922C>G (p.Ser1641Ter) c.4925C>G (p.Ser1642Ter) c.4799C>G (p.Ser1600Ter) c.4919C>G (p.Ser1640Ter) c.4847C>G (p.Ser1616Ter) c.1613C>G (p.Ser538Ter) c.1475C>G (p.Ser492Ter) c.4037C>G (p.Ser1346Ter) c.4802C>G (p.Ser1601Ter) c.4991C>G (p.Ser1664Ter) c.4784C>G (p.Ser1595Ter) c.1487C>G (p.Ser496Ter) c.1532C>G (p.Ser511Ter) c.4988C>G (p.Ser1663Ter) c.1312C>G c.1499C>G (p.Ser500Ter) c.*4708C>G (n.*4708C>G) n.78C>G c.1238C>G (p.Ser413Ter) c.5-7038C>G (n.5-7038C>G) c.398C>G (p.Ser133Ter) c.-98-20799C>G (n.-98-20799C>G) n.5061C>G n.5102C>G | ClinVar dbSNP |
17 | g.43070989G= | CA2260772806 | BRCA1 | c.4922C= (p.Ser1641=) c.4925C= (p.Ser1642=) c.4799C= (p.Ser1600=) c.4919C= (p.Ser1640=) c.4847C= (p.Ser1616=) c.1613C= (p.Ser538=) c.1475C= (p.Ser492=) c.4037C= (p.Ser1346=) c.4802C= (p.Ser1601=) c.4991C= (p.Ser1664=) c.4784C= (p.Ser1595=) c.1487C= (p.Ser496=) c.1532C= (p.Ser511=) c.4988C= (p.Ser1663=) c.1312C= c.1499C= (p.Ser500=) c.*4708C= (n.*4708C=) n.78C= c.1238C= (p.Ser413=) c.5-7038C= (n.5-7038C=) c.398C= (p.Ser133=) c.-98-20799C= (n.-98-20799C=) n.5061C= n.5102C= | |
17 | g.43070989G>T | CA10591672 | BRCA1 | c.4922C>A (p.Ser1641Ter) c.4925C>A (p.Ser1642Ter) c.4799C>A (p.Ser1600Ter) c.4919C>A (p.Ser1640Ter) c.4847C>A (p.Ser1616Ter) c.1613C>A (p.Ser538Ter) c.1475C>A (p.Ser492Ter) c.4037C>A (p.Ser1346Ter) c.4802C>A (p.Ser1601Ter) c.4991C>A (p.Ser1664Ter) c.4784C>A (p.Ser1595Ter) c.1487C>A (p.Ser496Ter) c.1532C>A (p.Ser511Ter) c.4988C>A (p.Ser1663Ter) c.1312C>A c.1499C>A (p.Ser500Ter) c.*4708C>A (n.*4708C>A) n.78C>A c.1238C>A (p.Ser413Ter) c.5-7038C>A (n.5-7038C>A) c.398C>A (p.Ser133Ter) c.-98-20799C>A (n.-98-20799C>A) n.5061C>A n.5102C>A | ClinVar dbSNP |
17 | g.43070990A= | CA2260772807 | BRCA1 | c.4921T= (p.Ser1641=) c.4924T= (p.Ser1642=) c.4798T= (p.Ser1600=) c.4918T= (p.Ser1640=) c.4846T= (p.Ser1616=) c.1612T= (p.Ser538=) c.1474T= (p.Ser492=) c.4036T= (p.Ser1346=) c.4801T= (p.Ser1601=) c.4990T= (p.Ser1664=) c.4783T= (p.Ser1595=) c.1486T= (p.Ser496=) c.1531T= (p.Ser511=) c.4987T= (p.Ser1663=) c.1311T= c.1498T= (p.Ser500=) c.*4707T= (n.*4707T=) n.77T= c.1237T= (p.Ser413=) c.5-7039T= (n.5-7039T=) c.397T= (p.Ser133=) c.-98-20800T= (n.-98-20800T=) n.5060T= n.5101T= | |
17 | g.43070990A>C | CA10591673 | BRCA1 | c.4921T>G (p.Ser1641Ala) c.4924T>G (p.Ser1642Ala) c.4798T>G (p.Ser1600Ala) c.4918T>G (p.Ser1640Ala) c.4846T>G (p.Ser1616Ala) c.1612T>G (p.Ser538Ala) c.1474T>G (p.Ser492Ala) c.4036T>G (p.Ser1346Ala) c.4801T>G (p.Ser1601Ala) c.4990T>G (p.Ser1664Ala) c.4783T>G (p.Ser1595Ala) c.1486T>G (p.Ser496Ala) c.1531T>G (p.Ser511Ala) c.4987T>G (p.Ser1663Ala) c.1311T>G c.1498T>G (p.Ser500Ala) c.*4707T>G (n.*4707T>G) n.77T>G c.1237T>G (p.Ser413Ala) c.5-7039T>G (n.5-7039T>G) c.397T>G (p.Ser133Ala) c.-98-20800T>G (n.-98-20800T>G) n.5060T>G n.5101T>G | ClinVar dbSNP |
17 | g.43070990A>G | CA10591674 | BRCA1 | c.4921T>C (p.Ser1641Pro) c.4924T>C (p.Ser1642Pro) c.4798T>C (p.Ser1600Pro) c.4918T>C (p.Ser1640Pro) c.4846T>C (p.Ser1616Pro) c.1612T>C (p.Ser538Pro) c.1474T>C (p.Ser492Pro) c.4036T>C (p.Ser1346Pro) c.4801T>C (p.Ser1601Pro) c.4990T>C (p.Ser1664Pro) c.4783T>C (p.Ser1595Pro) c.1486T>C (p.Ser496Pro) c.1531T>C (p.Ser511Pro) c.4987T>C (p.Ser1663Pro) c.1311T>C c.1498T>C (p.Ser500Pro) c.*4707T>C (n.*4707T>C) n.77T>C c.1237T>C (p.Ser413Pro) c.5-7039T>C (n.5-7039T>C) c.397T>C (p.Ser133Pro) c.-98-20800T>C (n.-98-20800T>C) n.5060T>C n.5101T>C | ClinVar dbSNP |
17 | g.43070990A>T | CA10591675 | BRCA1 | c.4921T>A (p.Ser1641Thr) c.4924T>A (p.Ser1642Thr) c.4798T>A (p.Ser1600Thr) c.4918T>A (p.Ser1640Thr) c.4846T>A (p.Ser1616Thr) c.1612T>A (p.Ser538Thr) c.1474T>A (p.Ser492Thr) c.4036T>A (p.Ser1346Thr) c.4801T>A (p.Ser1601Thr) c.4990T>A (p.Ser1664Thr) c.4783T>A (p.Ser1595Thr) c.1486T>A (p.Ser496Thr) c.1531T>A (p.Ser511Thr) c.4987T>A (p.Ser1663Thr) c.1311T>A c.1498T>A (p.Ser500Thr) c.*4707T>A (n.*4707T>A) n.77T>A c.1237T>A (p.Ser413Thr) c.5-7039T>A (n.5-7039T>A) c.397T>A (p.Ser133Thr) c.-98-20800T>A (n.-98-20800T>A) n.5060T>A n.5101T>A | ClinVar dbSNP |
17 | g.43070991A= | CA2260772808 | BRCA1 | c.4920T= (p.Ala1640=) c.4923T= (p.Ala1641=) c.4797T= (p.Ala1599=) c.4917T= (p.Ala1639=) c.4845T= (p.Ala1615=) c.1611T= (p.Ala537=) c.1473T= (p.Ala491=) c.4035T= (p.Ala1345=) c.4800T= (p.Ala1600=) c.4989T= (p.Ala1663=) c.4782T= (p.Ala1594=) c.1485T= (p.Ala495=) c.1530T= (p.Ala510=) c.4986T= (p.Ala1662=) c.1310T= c.1497T= (p.Ala499=) c.*4706T= (n.*4706T=) n.76T= c.1236T= (p.Ala412=) c.5-7040T= (n.5-7040T=) c.396T= (p.Ala132=) c.-98-20801T= (n.-98-20801T=) n.5059T= n.5100T= | |
17 | g.43070991A>C | CA10580505 | BRCA1 | c.4920T>G (p.Ala1640=) c.4923T>G (p.Ala1641=) c.4797T>G (p.Ala1599=) c.4917T>G (p.Ala1639=) c.4845T>G (p.Ala1615=) c.1611T>G (p.Ala537=) c.1473T>G (p.Ala491=) c.4035T>G (p.Ala1345=) c.4800T>G (p.Ala1600=) c.4989T>G (p.Ala1663=) c.4782T>G (p.Ala1594=) c.1485T>G (p.Ala495=) c.1530T>G (p.Ala510=) c.4986T>G (p.Ala1662=) c.1310T>G c.1497T>G (p.Ala499=) c.*4706T>G (n.*4706T>G) n.76T>G c.1236T>G (p.Ala412=) c.5-7040T>G (n.5-7040T>G) c.396T>G (p.Ala132=) c.-98-20801T>G (n.-98-20801T>G) n.5059T>G n.5100T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43070991A>G | CA500231648 | BRCA1 | c.4920T>C (p.Ala1640=) c.4923T>C (p.Ala1641=) c.4797T>C (p.Ala1599=) c.4917T>C (p.Ala1639=) c.4845T>C (p.Ala1615=) c.1611T>C (p.Ala537=) c.1473T>C (p.Ala491=) c.4035T>C (p.Ala1345=) c.4800T>C (p.Ala1600=) c.4989T>C (p.Ala1663=) c.4782T>C (p.Ala1594=) c.1485T>C (p.Ala495=) c.1530T>C (p.Ala510=) c.4986T>C (p.Ala1662=) c.1310T>C c.1497T>C (p.Ala499=) c.*4706T>C (n.*4706T>C) n.76T>C c.1236T>C (p.Ala412=) c.5-7040T>C (n.5-7040T>C) c.396T>C (p.Ala132=) c.-98-20801T>C (n.-98-20801T>C) n.5059T>C n.5100T>C | ClinVar dbSNP |
17 | g.43070991A>T | CA500231649 | BRCA1 | c.4920T>A (p.Ala1640=) c.4923T>A (p.Ala1641=) c.4797T>A (p.Ala1599=) c.4917T>A (p.Ala1639=) c.4845T>A (p.Ala1615=) c.1611T>A (p.Ala537=) c.1473T>A (p.Ala491=) c.4035T>A (p.Ala1345=) c.4800T>A (p.Ala1600=) c.4989T>A (p.Ala1663=) c.4782T>A (p.Ala1594=) c.1485T>A (p.Ala495=) c.1530T>A (p.Ala510=) c.4986T>A (p.Ala1662=) c.1310T>A c.1497T>A (p.Ala499=) c.*4706T>A (n.*4706T>A) n.76T>A c.1236T>A (p.Ala412=) c.5-7040T>A (n.5-7040T>A) c.396T>A (p.Ala132=) c.-98-20801T>A (n.-98-20801T>A) n.5059T>A n.5100T>A | ClinVar dbSNP |
17 | g.43070992G>A | CA10591676 | BRCA1 | c.4919C>T (p.Ala1640Val) c.4922C>T (p.Ala1641Val) c.4796C>T (p.Ala1599Val) c.4916C>T (p.Ala1639Val) c.4844C>T (p.Ala1615Val) c.1610C>T (p.Ala537Val) c.1472C>T (p.Ala491Val) c.4034C>T (p.Ala1345Val) c.4799C>T (p.Ala1600Val) c.4988C>T (p.Ala1663Val) c.4781C>T (p.Ala1594Val) c.1484C>T (p.Ala495Val) c.1529C>T (p.Ala510Val) c.4985C>T (p.Ala1662Val) c.1309C>T c.1496C>T (p.Ala499Val) c.*4705C>T (n.*4705C>T) n.75C>T c.1235C>T (p.Ala412Val) c.5-7041C>T (n.5-7041C>T) c.395C>T (p.Ala132Val) c.-98-20802C>T (n.-98-20802C>T) n.5058C>T n.5099C>T | ClinVar dbSNP |
17 | g.43070992G>C | CA10591677 | BRCA1 | c.4919C>G (p.Ala1640Gly) c.4922C>G (p.Ala1641Gly) c.4796C>G (p.Ala1599Gly) c.4916C>G (p.Ala1639Gly) c.4844C>G (p.Ala1615Gly) c.1610C>G (p.Ala537Gly) c.1472C>G (p.Ala491Gly) c.4034C>G (p.Ala1345Gly) c.4799C>G (p.Ala1600Gly) c.4988C>G (p.Ala1663Gly) c.4781C>G (p.Ala1594Gly) c.1484C>G (p.Ala495Gly) c.1529C>G (p.Ala510Gly) c.4985C>G (p.Ala1662Gly) c.1309C>G c.1496C>G (p.Ala499Gly) c.*4705C>G (n.*4705C>G) n.75C>G c.1235C>G (p.Ala412Gly) c.5-7041C>G (n.5-7041C>G) c.395C>G (p.Ala132Gly) c.-98-20802C>G (n.-98-20802C>G) n.5058C>G n.5099C>G | ClinVar dbSNP |
17 | g.43070992G= | CA2260772810 | BRCA1 | c.4919C= (p.Ala1640=) c.4922C= (p.Ala1641=) c.4796C= (p.Ala1599=) c.4916C= (p.Ala1639=) c.4844C= (p.Ala1615=) c.1610C= (p.Ala537=) c.1472C= (p.Ala491=) c.4034C= (p.Ala1345=) c.4799C= (p.Ala1600=) c.4988C= (p.Ala1663=) c.4781C= (p.Ala1594=) c.1484C= (p.Ala495=) c.1529C= (p.Ala510=) c.4985C= (p.Ala1662=) c.1309C= c.1496C= (p.Ala499=) c.*4705C= (n.*4705C=) n.75C= c.1235C= (p.Ala412=) c.5-7041C= (n.5-7041C=) c.395C= (p.Ala132=) c.-98-20802C= (n.-98-20802C=) n.5058C= n.5099C= | |
17 | g.43070992G>T | CA10591678 | BRCA1 | c.4919C>A (p.Ala1640Asp) c.4922C>A (p.Ala1641Asp) c.4796C>A (p.Ala1599Asp) c.4916C>A (p.Ala1639Asp) c.4844C>A (p.Ala1615Asp) c.1610C>A (p.Ala537Asp) c.1472C>A (p.Ala491Asp) c.4034C>A (p.Ala1345Asp) c.4799C>A (p.Ala1600Asp) c.4988C>A (p.Ala1663Asp) c.4781C>A (p.Ala1594Asp) c.1484C>A (p.Ala495Asp) c.1529C>A (p.Ala510Asp) c.4985C>A (p.Ala1662Asp) c.1309C>A c.1496C>A (p.Ala499Asp) c.*4705C>A (n.*4705C>A) n.75C>A c.1235C>A (p.Ala412Asp) c.5-7041C>A (n.5-7041C>A) c.395C>A (p.Ala132Asp) c.-98-20802C>A (n.-98-20802C>A) n.5058C>A n.5099C>A | ClinVar dbSNP |
17 | g.43070992_43070993delinsGC | CA2260772809 | BRCA1 | c.4918_4919delinsGC (p.Ala1640=) c.4921_4922delinsGC (p.Ala1641=) c.4795_4796delinsGC (p.Ala1599=) c.4915_4916delinsGC (p.Ala1639=) c.4843_4844delinsGC (p.Ala1615=) c.1609_1610delinsGC (p.Ala537=) c.1471_1472delinsGC (p.Ala491=) c.4033_4034delinsGC (p.Ala1345=) c.4798_4799delinsGC (p.Ala1600=) c.4987_4988delinsGC (p.Ala1663=) c.4780_4781delinsGC (p.Ala1594=) c.1483_1484delinsGC (p.Ala495=) c.1528_1529delinsGC (p.Ala510=) c.4984_4985delinsGC (p.Ala1662=) c.1308_1309delinsGC c.1495_1496delinsGC (p.Ala499=) c.*4704_*4705delinsGC (n.*4704_*4705delinsGC) n.74_75delinsGC c.1234_1235delinsGC (p.Ala412=) c.5-7042_5-7041delinsGC (n.5-7042_5-7041delinsGC) c.394_395delinsGC (p.Ala132=) c.-98-20803_-98-20802delinsGC (n.-98-20803_-98-20802delinsGC) n.5057_5058delinsGC n.5098_5099delinsGC | |
17 | g.43070993del | CA10589636 | BRCA1 | c.4918del (p.Ala1640LeufsTer17) c.4921del (p.Ala1641LeufsTer17) c.4795del (p.Ala1599LeufsTer17) c.4915del (p.Ala1639LeufsTer17) c.4843del (p.Ala1615LeufsTer17) c.1609del (p.Ala537LeufsTer17) c.1471del (p.Ala491LeufsTer17) c.4033del (p.Ala1345LeufsTer17) c.4798del (p.Ala1600LeufsTer17) c.4987del (p.Ala1663LeufsTer17) c.4780del (p.Ala1594LeufsTer17) c.1483del (p.Ala495LeufsTer17) c.1528del (p.Ala510LeufsTer17) c.4984del (p.Ala1662LeufsTer17) c.1308del c.1495del (p.Ala499LeufsTer17) c.*4704del (n.*4704del) n.74del c.1234del (p.Ala412LeufsTer17) c.5-7042del (n.5-7042del) c.394del (p.Ala132LeufsTer17) c.-98-20803del (n.-98-20803del) n.5057del n.5098del | ClinVar dbSNP |
17 | g.43070993C>A | CA10591679 | BRCA1 | c.4918G>T (p.Ala1640Ser) c.4921G>T (p.Ala1641Ser) c.4795G>T (p.Ala1599Ser) c.4915G>T (p.Ala1639Ser) c.4843G>T (p.Ala1615Ser) c.1609G>T (p.Ala537Ser) c.1471G>T (p.Ala491Ser) c.4033G>T (p.Ala1345Ser) c.4798G>T (p.Ala1600Ser) c.4987G>T (p.Ala1663Ser) c.4780G>T (p.Ala1594Ser) c.1483G>T (p.Ala495Ser) c.1528G>T (p.Ala510Ser) c.4984G>T (p.Ala1662Ser) c.1308G>T c.1495G>T (p.Ala499Ser) c.*4704G>T (n.*4704G>T) n.74G>T c.1234G>T (p.Ala412Ser) c.5-7042G>T (n.5-7042G>T) c.394G>T (p.Ala132Ser) c.-98-20803G>T (n.-98-20803G>T) n.5057G>T n.5098G>T | ClinVar dbSNP |
17 | g.43070993C= | CA2260772811 | BRCA1 | c.4918G= (p.Ala1640=) c.4921G= (p.Ala1641=) c.4795G= (p.Ala1599=) c.4915G= (p.Ala1639=) c.4843G= (p.Ala1615=) c.1609G= (p.Ala537=) c.1471G= (p.Ala491=) c.4033G= (p.Ala1345=) c.4798G= (p.Ala1600=) c.4987G= (p.Ala1663=) c.4780G= (p.Ala1594=) c.1483G= (p.Ala495=) c.1528G= (p.Ala510=) c.4984G= (p.Ala1662=) c.1308G= c.1495G= (p.Ala499=) c.*4704G= (n.*4704G=) n.74G= c.1234G= (p.Ala412=) c.5-7042G= (n.5-7042G=) c.394G= (p.Ala132=) c.-98-20803G= (n.-98-20803G=) n.5057G= n.5098G= | |
17 | g.43070993C>G | CA10591680 | BRCA1 | c.4918G>C (p.Ala1640Pro) c.4921G>C (p.Ala1641Pro) c.4795G>C (p.Ala1599Pro) c.4915G>C (p.Ala1639Pro) c.4843G>C (p.Ala1615Pro) c.1609G>C (p.Ala537Pro) c.1471G>C (p.Ala491Pro) c.4033G>C (p.Ala1345Pro) c.4798G>C (p.Ala1600Pro) c.4987G>C (p.Ala1663Pro) c.4780G>C (p.Ala1594Pro) c.1483G>C (p.Ala495Pro) c.1528G>C (p.Ala510Pro) c.4984G>C (p.Ala1662Pro) c.1308G>C c.1495G>C (p.Ala499Pro) c.*4704G>C (n.*4704G>C) n.74G>C c.1234G>C (p.Ala412Pro) c.5-7042G>C (n.5-7042G>C) c.394G>C (p.Ala132Pro) c.-98-20803G>C (n.-98-20803G>C) n.5057G>C n.5098G>C | ClinVar dbSNP |
17 | g.43070993C>T | CA003079 | BRCA1 | c.4918G>A (p.Ala1640Thr) c.4921G>A (p.Ala1641Thr) c.4795G>A (p.Ala1599Thr) c.4915G>A (p.Ala1639Thr) c.4843G>A (p.Ala1615Thr) c.1609G>A (p.Ala537Thr) c.1471G>A (p.Ala491Thr) c.4033G>A (p.Ala1345Thr) c.4798G>A (p.Ala1600Thr) c.4987G>A (p.Ala1663Thr) c.4780G>A (p.Ala1594Thr) c.1483G>A (p.Ala495Thr) c.1528G>A (p.Ala510Thr) c.4984G>A (p.Ala1662Thr) c.1308G>A c.1495G>A (p.Ala499Thr) c.*4704G>A (n.*4704G>A) n.74G>A c.1234G>A (p.Ala412Thr) c.5-7042G>A (n.5-7042G>A) c.394G>A (p.Ala132Thr) c.-98-20803G>A (n.-98-20803G>A) n.5057G>A n.5098G>A | ClinVar dbSNP |
17 | g.43070994T>A | CA500231660 | BRCA1 | c.4917A>T (p.Thr1639=) c.4920A>T (p.Thr1640=) c.4794A>T (p.Thr1598=) c.4914A>T (p.Thr1638=) c.4842A>T (p.Thr1614=) c.1608A>T (p.Thr536=) c.1470A>T (p.Thr490=) c.4032A>T (p.Thr1344=) c.4797A>T (p.Thr1599=) c.4986A>T (p.Thr1662=) c.4779A>T (p.Thr1593=) c.1482A>T (p.Thr494=) c.1527A>T (p.Thr509=) c.4983A>T (p.Thr1661=) c.1307A>T c.1494A>T (p.Thr498=) c.*4703A>T (n.*4703A>T) n.73A>T c.1233A>T (p.Thr411=) c.5-7043A>T (n.5-7043A>T) c.393A>T (p.Thr131=) c.-98-20804A>T (n.-98-20804A>T) n.5056A>T n.5097A>T | ClinVar dbSNP |
17 | g.43070994T>C | CA500231661 | BRCA1 | c.4917A>G (p.Thr1639=) c.4920A>G (p.Thr1640=) c.4794A>G (p.Thr1598=) c.4914A>G (p.Thr1638=) c.4842A>G (p.Thr1614=) c.1608A>G (p.Thr536=) c.1470A>G (p.Thr490=) c.4032A>G (p.Thr1344=) c.4797A>G (p.Thr1599=) c.4986A>G (p.Thr1662=) c.4779A>G (p.Thr1593=) c.1482A>G (p.Thr494=) c.1527A>G (p.Thr509=) c.4983A>G (p.Thr1661=) c.1307A>G c.1494A>G (p.Thr498=) c.*4703A>G (n.*4703A>G) n.73A>G c.1233A>G (p.Thr411=) c.5-7043A>G (n.5-7043A>G) c.393A>G (p.Thr131=) c.-98-20804A>G (n.-98-20804A>G) n.5056A>G n.5097A>G | ClinVar dbSNP |
17 | g.43070994T>G | CA500231662 | BRCA1 | c.4917A>C (p.Thr1639=) c.4920A>C (p.Thr1640=) c.4794A>C (p.Thr1598=) c.4914A>C (p.Thr1638=) c.4842A>C (p.Thr1614=) c.1608A>C (p.Thr536=) c.1470A>C (p.Thr490=) c.4032A>C (p.Thr1344=) c.4797A>C (p.Thr1599=) c.4986A>C (p.Thr1662=) c.4779A>C (p.Thr1593=) c.1482A>C (p.Thr494=) c.1527A>C (p.Thr509=) c.4983A>C (p.Thr1661=) c.1307A>C c.1494A>C (p.Thr498=) c.*4703A>C (n.*4703A>C) n.73A>C c.1233A>C (p.Thr411=) c.5-7043A>C (n.5-7043A>C) c.393A>C (p.Thr131=) c.-98-20804A>C (n.-98-20804A>C) n.5056A>C n.5097A>C | ClinVar dbSNP COSMIC |
17 | g.43070994T= | CA2260772813 | BRCA1 | c.4917A= (p.Thr1639=) c.4920A= (p.Thr1640=) c.4794A= (p.Thr1598=) c.4914A= (p.Thr1638=) c.4842A= (p.Thr1614=) c.1608A= (p.Thr536=) c.1470A= (p.Thr490=) c.4032A= (p.Thr1344=) c.4797A= (p.Thr1599=) c.4986A= (p.Thr1662=) c.4779A= (p.Thr1593=) c.1482A= (p.Thr494=) c.1527A= (p.Thr509=) c.4983A= (p.Thr1661=) c.1307A= c.1494A= (p.Thr498=) c.*4703A= (n.*4703A=) n.73A= c.1233A= (p.Thr411=) c.5-7043A= (n.5-7043A=) c.393A= (p.Thr131=) c.-98-20804A= (n.-98-20804A=) n.5056A= n.5097A= | |
17 | g.43070994_43071013delinsTGTCAATTCTGGCTTCTCCC | CA2260772812 | BRCA1 | c.4898_4917delinsGGGAGAAGCCAGAATTGACA (p.Arg1633=) c.4901_4920delinsGGGAGAAGCCAGAATTGACA (p.Arg1634=) c.4775_4794delinsGGGAGAAGCCAGAATTGACA (p.Arg1592=) c.4895_4914delinsGGGAGAAGCCAGAATTGACA (p.Arg1632=) c.4823_4842delinsGGGAGAAGCCAGAATTGACA (p.Arg1608=) c.1589_1608delinsGGGAGAAGCCAGAATTGACA (p.Arg530=) c.1451_1470delinsGGGAGAAGCCAGAATTGACA (p.Arg484=) c.4013_4032delinsGGGAGAAGCCAGAATTGACA (p.Arg1338=) c.4778_4797delinsGGGAGAAGCCAGAATTGACA (p.Arg1593=) c.4967_4986delinsGGGAGAAGCCAGAATTGACA (p.Arg1656=) c.4760_4779delinsGGGAGAAGCCAGAATTGACA (p.Arg1587=) c.1463_1482delinsGGGAGAAGCCAGAATTGACA (p.Arg488=) c.1508_1527delinsGGGAGAAGCCAGAATTGACA (p.Arg503=) c.4964_4983delinsGGGAGAAGCCAGAATTGACA (p.Arg1655=) c.1288_1307delinsGGGAGAAGCCAGAATTGACA c.1475_1494delinsGGGAGAAGCCAGAATTGACA (p.Arg492=) c.*4684_*4703delinsGGGAGAAGCCAGAATTGACA (n.*4684_*4703delinsGGGAGAAGCCAGAATTGACA) n.54_73delinsGGGAGAAGCCAGAATTGACA c.1214_1233delinsGGGAGAAGCCAGAATTGACA (p.Arg405=) c.5-7062_5-7043delinsGGGAGAAGCCAGAATTGACA (n.5-7062_5-7043delinsGGGAGAAGCCAGAATTGACA) c.374_393delinsGGGAGAAGCCAGAATTGACA (p.Arg125=) c.-98-20823_-98-20804delinsGGGAGAAGCCAGAATTGACA (n.-98-20823_-98-20804delinsGGGAGAAGCCAGAATTGACA) n.5037_5056delinsGGGAGAAGCCAGAATTGACA n.5078_5097delinsGGGAGAAGCCAGAATTGACA | |
17 | g.43070995G>A | CA10591681 | BRCA1 | c.4916C>T (p.Thr1639Ile) c.4919C>T (p.Thr1640Ile) c.4793C>T (p.Thr1598Ile) c.4913C>T (p.Thr1638Ile) c.4841C>T (p.Thr1614Ile) c.1607C>T (p.Thr536Ile) c.1469C>T (p.Thr490Ile) c.4031C>T (p.Thr1344Ile) c.4796C>T (p.Thr1599Ile) c.4985C>T (p.Thr1662Ile) c.4778C>T (p.Thr1593Ile) c.1481C>T (p.Thr494Ile) c.1526C>T (p.Thr509Ile) c.4982C>T (p.Thr1661Ile) c.1306C>T c.1493C>T (p.Thr498Ile) c.*4702C>T (n.*4702C>T) n.72C>T c.1232C>T (p.Thr411Ile) c.5-7044C>T (n.5-7044C>T) c.392C>T (p.Thr131Ile) c.-98-20805C>T (n.-98-20805C>T) n.5055C>T n.5096C>T | ClinVar dbSNP |
17 | g.43070995G>C | CA10591682 | BRCA1 | c.4916C>G (p.Thr1639Arg) c.4919C>G (p.Thr1640Arg) c.4793C>G (p.Thr1598Arg) c.4913C>G (p.Thr1638Arg) c.4841C>G (p.Thr1614Arg) c.1607C>G (p.Thr536Arg) c.1469C>G (p.Thr490Arg) c.4031C>G (p.Thr1344Arg) c.4796C>G (p.Thr1599Arg) c.4985C>G (p.Thr1662Arg) c.4778C>G (p.Thr1593Arg) c.1481C>G (p.Thr494Arg) c.1526C>G (p.Thr509Arg) c.4982C>G (p.Thr1661Arg) c.1306C>G c.1493C>G (p.Thr498Arg) c.*4702C>G (n.*4702C>G) n.72C>G c.1232C>G (p.Thr411Arg) c.5-7044C>G (n.5-7044C>G) c.392C>G (p.Thr131Arg) c.-98-20805C>G (n.-98-20805C>G) n.5055C>G n.5096C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43070995G= | CA2260772814 | BRCA1 | c.4916C= (p.Thr1639=) c.4919C= (p.Thr1640=) c.4793C= (p.Thr1598=) c.4913C= (p.Thr1638=) c.4841C= (p.Thr1614=) c.1607C= (p.Thr536=) c.1469C= (p.Thr490=) c.4031C= (p.Thr1344=) c.4796C= (p.Thr1599=) c.4985C= (p.Thr1662=) c.4778C= (p.Thr1593=) c.1481C= (p.Thr494=) c.1526C= (p.Thr509=) c.4982C= (p.Thr1661=) c.1306C= c.1493C= (p.Thr498=) c.*4702C= (n.*4702C=) n.72C= c.1232C= (p.Thr411=) c.5-7044C= (n.5-7044C=) c.392C= (p.Thr131=) c.-98-20805C= (n.-98-20805C=) n.5055C= n.5096C= | |
17 | g.43070995G>T | CA10591683 | BRCA1 | c.4916C>A (p.Thr1639Lys) c.4919C>A (p.Thr1640Lys) c.4793C>A (p.Thr1598Lys) c.4913C>A (p.Thr1638Lys) c.4841C>A (p.Thr1614Lys) c.1607C>A (p.Thr536Lys) c.1469C>A (p.Thr490Lys) c.4031C>A (p.Thr1344Lys) c.4796C>A (p.Thr1599Lys) c.4985C>A (p.Thr1662Lys) c.4778C>A (p.Thr1593Lys) c.1481C>A (p.Thr494Lys) c.1526C>A (p.Thr509Lys) c.4982C>A (p.Thr1661Lys) c.1306C>A c.1493C>A (p.Thr498Lys) c.*4702C>A (n.*4702C>A) n.72C>A c.1232C>A (p.Thr411Lys) c.5-7044C>A (n.5-7044C>A) c.392C>A (p.Thr131Lys) c.-98-20805C>A (n.-98-20805C>A) n.5055C>A n.5096C>A | ClinVar dbSNP |
17 | g.43070995_43071013del | CA645373141 | BRCA1 | c.4898_4916del (p.Arg1633LysfsTer18) c.4901_4919del (p.Arg1634LysfsTer18) c.4775_4793del (p.Arg1592LysfsTer18) c.4895_4913del (p.Arg1632LysfsTer18) c.4823_4841del (p.Arg1608LysfsTer18) c.1589_1607del (p.Arg530LysfsTer18) c.1451_1469del (p.Arg484LysfsTer18) c.4013_4031del (p.Arg1338LysfsTer18) c.4778_4796del (p.Arg1593LysfsTer18) c.4967_4985del (p.Arg1656LysfsTer18) c.4760_4778del (p.Arg1587LysfsTer18) c.1463_1481del (p.Arg488LysfsTer18) c.1508_1526del (p.Arg503LysfsTer18) c.4964_4982del (p.Arg1655LysfsTer18) c.1288_1306del c.1475_1493del (p.Arg492LysfsTer18) c.*4684_*4702del (n.*4684_*4702del) n.54_72del c.1214_1232del (p.Arg405LysfsTer18) c.5-7062_5-7044del (n.5-7062_5-7044del) c.374_392del (p.Arg125LysfsTer18) c.-98-20823_-98-20805del (n.-98-20823_-98-20805del) n.5037_5055del n.5078_5096del | ClinVar dbSNP |
17 | g.43070995_43070996insGTCAATTCTGGCTTCTCCC | CA919844186 | BRCA1 | c.4915_4916insGGGAGAAGCCAGAATTGAC (p.Thr1639ArgfsTer?) c.4918_4919insGGGAGAAGCCAGAATTGAC (p.Thr1640ArgfsTer?) c.4792_4793insGGGAGAAGCCAGAATTGAC (p.Thr1598ArgfsTer?) c.4912_4913insGGGAGAAGCCAGAATTGAC (p.Thr1638ArgfsTer?) c.4840_4841insGGGAGAAGCCAGAATTGAC (p.Thr1614ArgfsTer?) c.1606_1607insGGGAGAAGCCAGAATTGAC (p.Thr536ArgfsTer?) c.1468_1469insGGGAGAAGCCAGAATTGAC (p.Thr490ArgfsTer?) c.4030_4031insGGGAGAAGCCAGAATTGAC (p.Thr1344ArgfsTer?) c.4795_4796insGGGAGAAGCCAGAATTGAC (p.Thr1599ArgfsTer?) c.4984_4985insGGGAGAAGCCAGAATTGAC (p.Thr1662ArgfsTer?) c.4777_4778insGGGAGAAGCCAGAATTGAC (p.Thr1593ArgfsTer?) c.1480_1481insGGGAGAAGCCAGAATTGAC (p.Thr494ArgfsTer?) c.1525_1526insGGGAGAAGCCAGAATTGAC (p.Thr509ArgfsTer?) c.4981_4982insGGGAGAAGCCAGAATTGAC (p.Thr1661ArgfsTer?) c.1305_1306insGGGAGAAGCCAGAATTGAC c.1492_1493insGGGAGAAGCCAGAATTGAC (p.Thr498ArgfsTer?) c.*4701_*4702insGGGAGAAGCCAGAATTGAC (n.*4701_*4702insGGGAGAAGCCAGAATTGAC) n.71_72insGGGAGAAGCCAGAATTGAC c.1231_1232insGGGAGAAGCCAGAATTGAC (p.Thr411ArgfsTer?) c.5-7045_5-7044insGGGAGAAGCCAGAATTGAC (n.5-7045_5-7044insGGGAGAAGCCAGAATTGAC) c.391_392insGGGAGAAGCCAGAATTGAC (p.Thr131ArgfsTer?) c.-98-20806_-98-20805insGGGAGAAGCCAGAATTGAC (n.-98-20806_-98-20805insGGGAGAAGCCAGAATTGAC) n.5054_5055insGGGAGAAGCCAGAATTGAC n.5095_5096insGGGAGAAGCCAGAATTGAC | dbSNP |
17 | g.43070996T>A | CA10591684 | BRCA1 | c.4915A>T (p.Thr1639Ser) c.4918A>T (p.Thr1640Ser) c.4792A>T (p.Thr1598Ser) c.4912A>T (p.Thr1638Ser) c.4840A>T (p.Thr1614Ser) c.1606A>T (p.Thr536Ser) c.1468A>T (p.Thr490Ser) c.4030A>T (p.Thr1344Ser) c.4795A>T (p.Thr1599Ser) c.4984A>T (p.Thr1662Ser) c.4777A>T (p.Thr1593Ser) c.1480A>T (p.Thr494Ser) c.1525A>T (p.Thr509Ser) c.4981A>T (p.Thr1661Ser) c.1305A>T c.1492A>T (p.Thr498Ser) c.*4701A>T (n.*4701A>T) n.71A>T c.1231A>T (p.Thr411Ser) c.5-7045A>T (n.5-7045A>T) c.391A>T (p.Thr131Ser) c.-98-20806A>T (n.-98-20806A>T) n.5054A>T n.5095A>T | ClinVar dbSNP |
17 | g.43070996T>C | CA10591685 | BRCA1 | c.4915A>G (p.Thr1639Ala) c.4918A>G (p.Thr1640Ala) c.4792A>G (p.Thr1598Ala) c.4912A>G (p.Thr1638Ala) c.4840A>G (p.Thr1614Ala) c.1606A>G (p.Thr536Ala) c.1468A>G (p.Thr490Ala) c.4030A>G (p.Thr1344Ala) c.4795A>G (p.Thr1599Ala) c.4984A>G (p.Thr1662Ala) c.4777A>G (p.Thr1593Ala) c.1480A>G (p.Thr494Ala) c.1525A>G (p.Thr509Ala) c.4981A>G (p.Thr1661Ala) c.1305A>G c.1492A>G (p.Thr498Ala) c.*4701A>G (n.*4701A>G) n.71A>G c.1231A>G (p.Thr411Ala) c.5-7045A>G (n.5-7045A>G) c.391A>G (p.Thr131Ala) c.-98-20806A>G (n.-98-20806A>G) n.5054A>G n.5095A>G | ClinVar dbSNP |
17 | g.43070996T>G | CA10591686 | BRCA1 | c.4915A>C (p.Thr1639Pro) c.4918A>C (p.Thr1640Pro) c.4792A>C (p.Thr1598Pro) c.4912A>C (p.Thr1638Pro) c.4840A>C (p.Thr1614Pro) c.1606A>C (p.Thr536Pro) c.1468A>C (p.Thr490Pro) c.4030A>C (p.Thr1344Pro) c.4795A>C (p.Thr1599Pro) c.4984A>C (p.Thr1662Pro) c.4777A>C (p.Thr1593Pro) c.1480A>C (p.Thr494Pro) c.1525A>C (p.Thr509Pro) c.4981A>C (p.Thr1661Pro) c.1305A>C c.1492A>C (p.Thr498Pro) c.*4701A>C (n.*4701A>C) n.71A>C c.1231A>C (p.Thr411Pro) c.5-7045A>C (n.5-7045A>C) c.391A>C (p.Thr131Pro) c.-98-20806A>C (n.-98-20806A>C) n.5054A>C n.5095A>C | ClinVar dbSNP |
17 | g.43070996T= | CA2260772815 | BRCA1 | c.4915A= (p.Thr1639=) c.4918A= (p.Thr1640=) c.4792A= (p.Thr1598=) c.4912A= (p.Thr1638=) c.4840A= (p.Thr1614=) c.1606A= (p.Thr536=) c.1468A= (p.Thr490=) c.4030A= (p.Thr1344=) c.4795A= (p.Thr1599=) c.4984A= (p.Thr1662=) c.4777A= (p.Thr1593=) c.1480A= (p.Thr494=) c.1525A= (p.Thr509=) c.4981A= (p.Thr1661=) c.1305A= c.1492A= (p.Thr498=) c.*4701A= (n.*4701A=) n.71A= c.1231A= (p.Thr411=) c.5-7045A= (n.5-7045A=) c.391A= (p.Thr131=) c.-98-20806A= (n.-98-20806A=) n.5054A= n.5095A= | |
17 | g.43070997C>A | CA10591687 | BRCA1 | c.4914G>T (p.Leu1638Phe) c.4917G>T (p.Leu1639Phe) c.4791G>T (p.Leu1597Phe) c.4911G>T (p.Leu1637Phe) c.4839G>T (p.Leu1613Phe) c.1605G>T (p.Leu535Phe) c.1467G>T (p.Leu489Phe) c.4029G>T (p.Leu1343Phe) c.4794G>T (p.Leu1598Phe) c.4983G>T (p.Leu1661Phe) c.4776G>T (p.Leu1592Phe) c.1479G>T (p.Leu493Phe) c.1524G>T (p.Leu508Phe) c.4980G>T (p.Leu1660Phe) c.1304G>T c.1491G>T (p.Leu497Phe) c.*4700G>T (n.*4700G>T) n.70G>T c.1230G>T (p.Leu410Phe) c.5-7046G>T (n.5-7046G>T) c.390G>T (p.Leu130Phe) c.-98-20807G>T (n.-98-20807G>T) n.5053G>T n.5094G>T | ClinVar dbSNP |
17 | g.43070997C= | CA2260772816 | BRCA1 | c.4914G= (p.Leu1638=) c.4917G= (p.Leu1639=) c.4791G= (p.Leu1597=) c.4911G= (p.Leu1637=) c.4839G= (p.Leu1613=) c.1605G= (p.Leu535=) c.1467G= (p.Leu489=) c.4029G= (p.Leu1343=) c.4794G= (p.Leu1598=) c.4983G= (p.Leu1661=) c.4776G= (p.Leu1592=) c.1479G= (p.Leu493=) c.1524G= (p.Leu508=) c.4980G= (p.Leu1660=) c.1304G= c.1491G= (p.Leu497=) c.*4700G= (n.*4700G=) n.70G= c.1230G= (p.Leu410=) c.5-7046G= (n.5-7046G=) c.390G= (p.Leu130=) c.-98-20807G= (n.-98-20807G=) n.5053G= n.5094G= | |
17 | g.43070997C>G | CA10591688 | BRCA1 | c.4914G>C (p.Leu1638Phe) c.4917G>C (p.Leu1639Phe) c.4791G>C (p.Leu1597Phe) c.4911G>C (p.Leu1637Phe) c.4839G>C (p.Leu1613Phe) c.1605G>C (p.Leu535Phe) c.1467G>C (p.Leu489Phe) c.4029G>C (p.Leu1343Phe) c.4794G>C (p.Leu1598Phe) c.4983G>C (p.Leu1661Phe) c.4776G>C (p.Leu1592Phe) c.1479G>C (p.Leu493Phe) c.1524G>C (p.Leu508Phe) c.4980G>C (p.Leu1660Phe) c.1304G>C c.1491G>C (p.Leu497Phe) c.*4700G>C (n.*4700G>C) n.70G>C c.1230G>C (p.Leu410Phe) c.5-7046G>C (n.5-7046G>C) c.390G>C (p.Leu130Phe) c.-98-20807G>C (n.-98-20807G>C) n.5053G>C n.5094G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43070997C>T | CA16615754 | BRCA1 | c.4914G>A (p.Leu1638=) c.4917G>A (p.Leu1639=) c.4791G>A (p.Leu1597=) c.4911G>A (p.Leu1637=) c.4839G>A (p.Leu1613=) c.1605G>A (p.Leu535=) c.1467G>A (p.Leu489=) c.4029G>A (p.Leu1343=) c.4794G>A (p.Leu1598=) c.4983G>A (p.Leu1661=) c.4776G>A (p.Leu1592=) c.1479G>A (p.Leu493=) c.1524G>A (p.Leu508=) c.4980G>A (p.Leu1660=) c.1304G>A c.1491G>A (p.Leu497=) c.*4700G>A (n.*4700G>A) n.70G>A c.1230G>A (p.Leu410=) c.5-7046G>A (n.5-7046G>A) c.390G>A (p.Leu130=) c.-98-20807G>A (n.-98-20807G>A) n.5053G>A n.5094G>A | ClinVar dbSNP |
17 | g.43070998A= | CA2260772817 | BRCA1 | c.4913T= (p.Leu1638=) c.4916T= (p.Leu1639=) c.4790T= (p.Leu1597=) c.4910T= (p.Leu1637=) c.4838T= (p.Leu1613=) c.1604T= (p.Leu535=) c.1466T= (p.Leu489=) c.4028T= (p.Leu1343=) c.4793T= (p.Leu1598=) c.4982T= (p.Leu1661=) c.4775T= (p.Leu1592=) c.1478T= (p.Leu493=) c.1523T= (p.Leu508=) c.4979T= (p.Leu1660=) c.1303T= c.1490T= (p.Leu497=) c.*4699T= (n.*4699T=) n.69T= c.1229T= (p.Leu410=) c.5-7047T= (n.5-7047T=) c.389T= (p.Leu130=) c.-98-20808T= (n.-98-20808T=) n.5052T= n.5093T= | |
17 | g.43070998A>C | CA10591689 | BRCA1 | c.4913T>G (p.Leu1638Trp) c.4916T>G (p.Leu1639Trp) c.4790T>G (p.Leu1597Trp) c.4910T>G (p.Leu1637Trp) c.4838T>G (p.Leu1613Trp) c.1604T>G (p.Leu535Trp) c.1466T>G (p.Leu489Trp) c.4028T>G (p.Leu1343Trp) c.4793T>G (p.Leu1598Trp) c.4982T>G (p.Leu1661Trp) c.4775T>G (p.Leu1592Trp) c.1478T>G (p.Leu493Trp) c.1523T>G (p.Leu508Trp) c.4979T>G (p.Leu1660Trp) c.1303T>G c.1490T>G (p.Leu497Trp) c.*4699T>G (n.*4699T>G) n.69T>G c.1229T>G (p.Leu410Trp) c.5-7047T>G (n.5-7047T>G) c.389T>G (p.Leu130Trp) c.-98-20808T>G (n.-98-20808T>G) n.5052T>G n.5093T>G | ClinVar dbSNP |
17 | g.43070998A>G | CA10591690 | BRCA1 | c.4913T>C (p.Leu1638Ser) c.4916T>C (p.Leu1639Ser) c.4790T>C (p.Leu1597Ser) c.4910T>C (p.Leu1637Ser) c.4838T>C (p.Leu1613Ser) c.1604T>C (p.Leu535Ser) c.1466T>C (p.Leu489Ser) c.4028T>C (p.Leu1343Ser) c.4793T>C (p.Leu1598Ser) c.4982T>C (p.Leu1661Ser) c.4775T>C (p.Leu1592Ser) c.1478T>C (p.Leu493Ser) c.1523T>C (p.Leu508Ser) c.4979T>C (p.Leu1660Ser) c.1303T>C c.1490T>C (p.Leu497Ser) c.*4699T>C (n.*4699T>C) n.69T>C c.1229T>C (p.Leu410Ser) c.5-7047T>C (n.5-7047T>C) c.389T>C (p.Leu130Ser) c.-98-20808T>C (n.-98-20808T>C) n.5052T>C n.5093T>C | ClinVar dbSNP |
17 | g.43070998A>T | CA10591691 | BRCA1 | c.4913T>A (p.Leu1638Ter) c.4916T>A (p.Leu1639Ter) c.4790T>A (p.Leu1597Ter) c.4910T>A (p.Leu1637Ter) c.4838T>A (p.Leu1613Ter) c.1604T>A (p.Leu535Ter) c.1466T>A (p.Leu489Ter) c.4028T>A (p.Leu1343Ter) c.4793T>A (p.Leu1598Ter) c.4982T>A (p.Leu1661Ter) c.4775T>A (p.Leu1592Ter) c.1478T>A (p.Leu493Ter) c.1523T>A (p.Leu508Ter) c.4979T>A (p.Leu1660Ter) c.1303T>A c.1490T>A (p.Leu497Ter) c.*4699T>A (n.*4699T>A) n.69T>A c.1229T>A (p.Leu410Ter) c.5-7047T>A (n.5-7047T>A) c.389T>A (p.Leu130Ter) c.-98-20808T>A (n.-98-20808T>A) n.5052T>A n.5093T>A | ClinVar dbSNP |
17 | g.43070999A= | CA2260772818 | BRCA1 | c.4912T= (p.Leu1638=) c.4915T= (p.Leu1639=) c.4789T= (p.Leu1597=) c.4909T= (p.Leu1637=) c.4837T= (p.Leu1613=) c.1603T= (p.Leu535=) c.1465T= (p.Leu489=) c.4027T= (p.Leu1343=) c.4792T= (p.Leu1598=) c.4981T= (p.Leu1661=) c.4774T= (p.Leu1592=) c.1477T= (p.Leu493=) c.1522T= (p.Leu508=) c.4978T= (p.Leu1660=) c.1302T= c.1489T= (p.Leu497=) c.*4698T= (n.*4698T=) n.68T= c.1228T= (p.Leu410=) c.5-7048T= (n.5-7048T=) c.388T= (p.Leu130=) c.-98-20809T= (n.-98-20809T=) n.5051T= n.5092T= | |
17 | g.43070999A>C | CA10591692 | BRCA1 | c.4912T>G (p.Leu1638Val) c.4915T>G (p.Leu1639Val) c.4789T>G (p.Leu1597Val) c.4909T>G (p.Leu1637Val) c.4837T>G (p.Leu1613Val) c.1603T>G (p.Leu535Val) c.1465T>G (p.Leu489Val) c.4027T>G (p.Leu1343Val) c.4792T>G (p.Leu1598Val) c.4981T>G (p.Leu1661Val) c.4774T>G (p.Leu1592Val) c.1477T>G (p.Leu493Val) c.1522T>G (p.Leu508Val) c.4978T>G (p.Leu1660Val) c.1302T>G c.1489T>G (p.Leu497Val) c.*4698T>G (n.*4698T>G) n.68T>G c.1228T>G (p.Leu410Val) c.5-7048T>G (n.5-7048T>G) c.388T>G (p.Leu130Val) c.-98-20809T>G (n.-98-20809T>G) n.5051T>G n.5092T>G | ClinVar dbSNP |
17 | g.43070999A>G | CA500231674 | BRCA1 | c.4912T>C (p.Leu1638=) c.4915T>C (p.Leu1639=) c.4789T>C (p.Leu1597=) c.4909T>C (p.Leu1637=) c.4837T>C (p.Leu1613=) c.1603T>C (p.Leu535=) c.1465T>C (p.Leu489=) c.4027T>C (p.Leu1343=) c.4792T>C (p.Leu1598=) c.4981T>C (p.Leu1661=) c.4774T>C (p.Leu1592=) c.1477T>C (p.Leu493=) c.1522T>C (p.Leu508=) c.4978T>C (p.Leu1660=) c.1302T>C c.1489T>C (p.Leu497=) c.*4698T>C (n.*4698T>C) n.68T>C c.1228T>C (p.Leu410=) c.5-7048T>C (n.5-7048T>C) c.388T>C (p.Leu130=) c.-98-20809T>C (n.-98-20809T>C) n.5051T>C n.5092T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43070999A>T | CA10591693 | BRCA1 | c.4912T>A (p.Leu1638Met) c.4915T>A (p.Leu1639Met) c.4789T>A (p.Leu1597Met) c.4909T>A (p.Leu1637Met) c.4837T>A (p.Leu1613Met) c.1603T>A (p.Leu535Met) c.1465T>A (p.Leu489Met) c.4027T>A (p.Leu1343Met) c.4792T>A (p.Leu1598Met) c.4981T>A (p.Leu1661Met) c.4774T>A (p.Leu1592Met) c.1477T>A (p.Leu493Met) c.1522T>A (p.Leu508Met) c.4978T>A (p.Leu1660Met) c.1302T>A c.1489T>A (p.Leu497Met) c.*4698T>A (n.*4698T>A) n.68T>A c.1228T>A (p.Leu410Met) c.5-7048T>A (n.5-7048T>A) c.388T>A (p.Leu130Met) c.-98-20809T>A (n.-98-20809T>A) n.5051T>A n.5092T>A | ClinVar dbSNP |
17 | g.43071000T>A | CA10591694 | BRCA1 | c.4911A>T (p.Glu1637Asp) c.4914A>T (p.Glu1638Asp) c.4788A>T (p.Glu1596Asp) c.4908A>T (p.Glu1636Asp) c.4836A>T (p.Glu1612Asp) c.1602A>T (p.Glu534Asp) c.1464A>T (p.Glu488Asp) c.4026A>T (p.Glu1342Asp) c.4791A>T (p.Glu1597Asp) c.4980A>T (p.Glu1660Asp) c.4773A>T (p.Glu1591Asp) c.1476A>T (p.Glu492Asp) c.1521A>T (p.Glu507Asp) c.4977A>T (p.Glu1659Asp) c.1301A>T c.1488A>T (p.Glu496Asp) c.*4697A>T (n.*4697A>T) n.67A>T c.1227A>T (p.Glu409Asp) c.5-7049A>T (n.5-7049A>T) c.387A>T (p.Glu129Asp) c.-98-20810A>T (n.-98-20810A>T) n.5050A>T n.5091A>T | ClinVar dbSNP |
17 | g.43071000T>C | CA003078 | BRCA1 | c.4911A>G (p.Glu1637=) c.4914A>G (p.Glu1638=) c.4788A>G (p.Glu1596=) c.4908A>G (p.Glu1636=) c.4836A>G (p.Glu1612=) c.1602A>G (p.Glu534=) c.1464A>G (p.Glu488=) c.4026A>G (p.Glu1342=) c.4791A>G (p.Glu1597=) c.4980A>G (p.Glu1660=) c.4773A>G (p.Glu1591=) c.1476A>G (p.Glu492=) c.1521A>G (p.Glu507=) c.4977A>G (p.Glu1659=) c.1301A>G c.1488A>G (p.Glu496=) c.*4697A>G (n.*4697A>G) n.67A>G c.1227A>G (p.Glu409=) c.5-7049A>G (n.5-7049A>G) c.387A>G (p.Glu129=) c.-98-20810A>G (n.-98-20810A>G) n.5050A>G n.5091A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071000T>G | CA10591695 | BRCA1 | c.4911A>C (p.Glu1637Asp) c.4914A>C (p.Glu1638Asp) c.4788A>C (p.Glu1596Asp) c.4908A>C (p.Glu1636Asp) c.4836A>C (p.Glu1612Asp) c.1602A>C (p.Glu534Asp) c.1464A>C (p.Glu488Asp) c.4026A>C (p.Glu1342Asp) c.4791A>C (p.Glu1597Asp) c.4980A>C (p.Glu1660Asp) c.4773A>C (p.Glu1591Asp) c.1476A>C (p.Glu492Asp) c.1521A>C (p.Glu507Asp) c.4977A>C (p.Glu1659Asp) c.1301A>C c.1488A>C (p.Glu496Asp) c.*4697A>C (n.*4697A>C) n.67A>C c.1227A>C (p.Glu409Asp) c.5-7049A>C (n.5-7049A>C) c.387A>C (p.Glu129Asp) c.-98-20810A>C (n.-98-20810A>C) n.5050A>C n.5091A>C | ClinVar dbSNP COSMIC COSMIC |
17 | g.43071000T= | CA2260772819 | BRCA1 | c.4911A= (p.Glu1637=) c.4914A= (p.Glu1638=) c.4788A= (p.Glu1596=) c.4908A= (p.Glu1636=) c.4836A= (p.Glu1612=) c.1602A= (p.Glu534=) c.1464A= (p.Glu488=) c.4026A= (p.Glu1342=) c.4791A= (p.Glu1597=) c.4980A= (p.Glu1660=) c.4773A= (p.Glu1591=) c.1476A= (p.Glu492=) c.1521A= (p.Glu507=) c.4977A= (p.Glu1659=) c.1301A= c.1488A= (p.Glu496=) c.*4697A= (n.*4697A=) n.67A= c.1227A= (p.Glu409=) c.5-7049A= (n.5-7049A=) c.387A= (p.Glu129=) c.-98-20810A= (n.-98-20810A=) n.5050A= n.5091A= | |
17 | g.43071001T>A | CA10591696 | BRCA1 | c.4910A>T (p.Glu1637Val) c.4913A>T (p.Glu1638Val) c.4787A>T (p.Glu1596Val) c.4907A>T (p.Glu1636Val) c.4835A>T (p.Glu1612Val) c.1601A>T (p.Glu534Val) c.1463A>T (p.Glu488Val) c.4025A>T (p.Glu1342Val) c.4790A>T (p.Glu1597Val) c.4979A>T (p.Glu1660Val) c.4772A>T (p.Glu1591Val) c.1475A>T (p.Glu492Val) c.1520A>T (p.Glu507Val) c.4976A>T (p.Glu1659Val) c.1300A>T c.1487A>T (p.Glu496Val) c.*4696A>T (n.*4696A>T) n.66A>T c.1226A>T (p.Glu409Val) c.5-7050A>T (n.5-7050A>T) c.386A>T (p.Glu129Val) c.-98-20811A>T (n.-98-20811A>T) n.5049A>T n.5090A>T | ClinVar dbSNP |
17 | g.43071001T>C | CA10591697 | BRCA1 | c.4910A>G (p.Glu1637Gly) c.4913A>G (p.Glu1638Gly) c.4787A>G (p.Glu1596Gly) c.4907A>G (p.Glu1636Gly) c.4835A>G (p.Glu1612Gly) c.1601A>G (p.Glu534Gly) c.1463A>G (p.Glu488Gly) c.4025A>G (p.Glu1342Gly) c.4790A>G (p.Glu1597Gly) c.4979A>G (p.Glu1660Gly) c.4772A>G (p.Glu1591Gly) c.1475A>G (p.Glu492Gly) c.1520A>G (p.Glu507Gly) c.4976A>G (p.Glu1659Gly) c.1300A>G c.1487A>G (p.Glu496Gly) c.*4696A>G (n.*4696A>G) n.66A>G c.1226A>G (p.Glu409Gly) c.5-7050A>G (n.5-7050A>G) c.386A>G (p.Glu129Gly) c.-98-20811A>G (n.-98-20811A>G) n.5049A>G n.5090A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43071001T>G | CA10591698 | BRCA1 | c.4910A>C (p.Glu1637Ala) c.4913A>C (p.Glu1638Ala) c.4787A>C (p.Glu1596Ala) c.4907A>C (p.Glu1636Ala) c.4835A>C (p.Glu1612Ala) c.1601A>C (p.Glu534Ala) c.1463A>C (p.Glu488Ala) c.4025A>C (p.Glu1342Ala) c.4790A>C (p.Glu1597Ala) c.4979A>C (p.Glu1660Ala) c.4772A>C (p.Glu1591Ala) c.1475A>C (p.Glu492Ala) c.1520A>C (p.Glu507Ala) c.4976A>C (p.Glu1659Ala) c.1300A>C c.1487A>C (p.Glu496Ala) c.*4696A>C (n.*4696A>C) n.66A>C c.1226A>C (p.Glu409Ala) c.5-7050A>C (n.5-7050A>C) c.386A>C (p.Glu129Ala) c.-98-20811A>C (n.-98-20811A>C) n.5049A>C n.5090A>C | ClinVar dbSNP |
17 | g.43071001T= | CA2260772820 | BRCA1 | c.4910A= (p.Glu1637=) c.4913A= (p.Glu1638=) c.4787A= (p.Glu1596=) c.4907A= (p.Glu1636=) c.4835A= (p.Glu1612=) c.1601A= (p.Glu534=) c.1463A= (p.Glu488=) c.4025A= (p.Glu1342=) c.4790A= (p.Glu1597=) c.4979A= (p.Glu1660=) c.4772A= (p.Glu1591=) c.1475A= (p.Glu492=) c.1520A= (p.Glu507=) c.4976A= (p.Glu1659=) c.1300A= c.1487A= (p.Glu496=) c.*4696A= (n.*4696A=) n.66A= c.1226A= (p.Glu409=) c.5-7050A= (n.5-7050A=) c.386A= (p.Glu129=) c.-98-20811A= (n.-98-20811A=) n.5049A= n.5090A= | |
17 | g.43071002C>A | CA10591699 | BRCA1 | c.4909G>T (p.Glu1637Ter) c.4912G>T (p.Glu1638Ter) c.4786G>T (p.Glu1596Ter) c.4906G>T (p.Glu1636Ter) c.4834G>T (p.Glu1612Ter) c.1600G>T (p.Glu534Ter) c.1462G>T (p.Glu488Ter) c.4024G>T (p.Glu1342Ter) c.4789G>T (p.Glu1597Ter) c.4978G>T (p.Glu1660Ter) c.4771G>T (p.Glu1591Ter) c.1474G>T (p.Glu492Ter) c.1519G>T (p.Glu507Ter) c.4975G>T (p.Glu1659Ter) c.1299G>T c.1486G>T (p.Glu496Ter) c.*4695G>T (n.*4695G>T) n.65G>T c.1225G>T (p.Glu409Ter) c.5-7051G>T (n.5-7051G>T) c.385G>T (p.Glu129Ter) c.-98-20812G>T (n.-98-20812G>T) n.5048G>T n.5089G>T | ClinVar dbSNP |
17 | g.43071002C= | CA2260772821 | BRCA1 | c.4909G= (p.Glu1637=) c.4912G= (p.Glu1638=) c.4786G= (p.Glu1596=) c.4906G= (p.Glu1636=) c.4834G= (p.Glu1612=) c.1600G= (p.Glu534=) c.1462G= (p.Glu488=) c.4024G= (p.Glu1342=) c.4789G= (p.Glu1597=) c.4978G= (p.Glu1660=) c.4771G= (p.Glu1591=) c.1474G= (p.Glu492=) c.1519G= (p.Glu507=) c.4975G= (p.Glu1659=) c.1299G= c.1486G= (p.Glu496=) c.*4695G= (n.*4695G=) n.65G= c.1225G= (p.Glu409=) c.5-7051G= (n.5-7051G=) c.385G= (p.Glu129=) c.-98-20812G= (n.-98-20812G=) n.5048G= n.5089G= | |
17 | g.43071002C>G | CA10591700 | BRCA1 | c.4909G>C (p.Glu1637Gln) c.4912G>C (p.Glu1638Gln) c.4786G>C (p.Glu1596Gln) c.4906G>C (p.Glu1636Gln) c.4834G>C (p.Glu1612Gln) c.1600G>C (p.Glu534Gln) c.1462G>C (p.Glu488Gln) c.4024G>C (p.Glu1342Gln) c.4789G>C (p.Glu1597Gln) c.4978G>C (p.Glu1660Gln) c.4771G>C (p.Glu1591Gln) c.1474G>C (p.Glu492Gln) c.1519G>C (p.Glu507Gln) c.4975G>C (p.Glu1659Gln) c.1299G>C c.1486G>C (p.Glu496Gln) c.*4695G>C (n.*4695G>C) n.65G>C c.1225G>C (p.Glu409Gln) c.5-7051G>C (n.5-7051G>C) c.385G>C (p.Glu129Gln) c.-98-20812G>C (n.-98-20812G>C) n.5048G>C n.5089G>C | ClinVar dbSNP |
17 | g.43071002C>T | CA10591701 | BRCA1 | c.4909G>A (p.Glu1637Lys) c.4912G>A (p.Glu1638Lys) c.4786G>A (p.Glu1596Lys) c.4906G>A (p.Glu1636Lys) c.4834G>A (p.Glu1612Lys) c.1600G>A (p.Glu534Lys) c.1462G>A (p.Glu488Lys) c.4024G>A (p.Glu1342Lys) c.4789G>A (p.Glu1597Lys) c.4978G>A (p.Glu1660Lys) c.4771G>A (p.Glu1591Lys) c.1474G>A (p.Glu492Lys) c.1519G>A (p.Glu507Lys) c.4975G>A (p.Glu1659Lys) c.1299G>A c.1486G>A (p.Glu496Lys) c.*4695G>A (n.*4695G>A) n.65G>A c.1225G>A (p.Glu409Lys) c.5-7051G>A (n.5-7051G>A) c.385G>A (p.Glu129Lys) c.-98-20812G>A (n.-98-20812G>A) n.5048G>A n.5089G>A | ClinVar dbSNP |
17 | g.43071003T>A | CA500231677 | BRCA1 | c.4908A>T (p.Pro1636=) c.4911A>T (p.Pro1637=) c.4785A>T (p.Pro1595=) c.4905A>T (p.Pro1635=) c.4833A>T (p.Pro1611=) c.1599A>T (p.Pro533=) c.1461A>T (p.Pro487=) c.4023A>T (p.Pro1341=) c.4788A>T (p.Pro1596=) c.4977A>T (p.Pro1659=) c.4770A>T (p.Pro1590=) c.1473A>T (p.Pro491=) c.1518A>T (p.Pro506=) c.4974A>T (p.Pro1658=) c.1298A>T c.1485A>T (p.Pro495=) c.*4694A>T (n.*4694A>T) n.64A>T c.1224A>T (p.Pro408=) c.5-7052A>T (n.5-7052A>T) c.384A>T (p.Pro128=) c.-98-20813A>T (n.-98-20813A>T) n.5047A>T n.5088A>T | ClinVar dbSNP |
17 | g.43071003T>C | CA500231678 | BRCA1 | c.4908A>G (p.Pro1636=) c.4911A>G (p.Pro1637=) c.4785A>G (p.Pro1595=) c.4905A>G (p.Pro1635=) c.4833A>G (p.Pro1611=) c.1599A>G (p.Pro533=) c.1461A>G (p.Pro487=) c.4023A>G (p.Pro1341=) c.4788A>G (p.Pro1596=) c.4977A>G (p.Pro1659=) c.4770A>G (p.Pro1590=) c.1473A>G (p.Pro491=) c.1518A>G (p.Pro506=) c.4974A>G (p.Pro1658=) c.1298A>G c.1485A>G (p.Pro495=) c.*4694A>G (n.*4694A>G) n.64A>G c.1224A>G (p.Pro408=) c.5-7052A>G (n.5-7052A>G) c.384A>G (p.Pro128=) c.-98-20813A>G (n.-98-20813A>G) n.5047A>G n.5088A>G | ClinVar dbSNP COSMIC COSMIC |
17 | g.43071003T>G | CA500231679 | BRCA1 | c.4908A>C (p.Pro1636=) c.4911A>C (p.Pro1637=) c.4785A>C (p.Pro1595=) c.4905A>C (p.Pro1635=) c.4833A>C (p.Pro1611=) c.1599A>C (p.Pro533=) c.1461A>C (p.Pro487=) c.4023A>C (p.Pro1341=) c.4788A>C (p.Pro1596=) c.4977A>C (p.Pro1659=) c.4770A>C (p.Pro1590=) c.1473A>C (p.Pro491=) c.1518A>C (p.Pro506=) c.4974A>C (p.Pro1658=) c.1298A>C c.1485A>C (p.Pro495=) c.*4694A>C (n.*4694A>C) n.64A>C c.1224A>C (p.Pro408=) c.5-7052A>C (n.5-7052A>C) c.384A>C (p.Pro128=) c.-98-20813A>C (n.-98-20813A>C) n.5047A>C n.5088A>C | ClinVar dbSNP |
17 | g.43071003T= | CA2260772823 | BRCA1 | c.4908A= (p.Pro1636=) c.4911A= (p.Pro1637=) c.4785A= (p.Pro1595=) c.4905A= (p.Pro1635=) c.4833A= (p.Pro1611=) c.1599A= (p.Pro533=) c.1461A= (p.Pro487=) c.4023A= (p.Pro1341=) c.4788A= (p.Pro1596=) c.4977A= (p.Pro1659=) c.4770A= (p.Pro1590=) c.1473A= (p.Pro491=) c.1518A= (p.Pro506=) c.4974A= (p.Pro1658=) c.1298A= c.1485A= (p.Pro495=) c.*4694A= (n.*4694A=) n.64A= c.1224A= (p.Pro408=) c.5-7052A= (n.5-7052A=) c.384A= (p.Pro128=) c.-98-20813A= (n.-98-20813A=) n.5047A= n.5088A= | |
17 | g.43071003_43071004delinsTG | CA2260772822 | BRCA1 | c.4907_4908delinsCA (p.Pro1636=) c.4910_4911delinsCA (p.Pro1637=) c.4784_4785delinsCA (p.Pro1595=) c.4904_4905delinsCA (p.Pro1635=) c.4832_4833delinsCA (p.Pro1611=) c.1598_1599delinsCA (p.Pro533=) c.1460_1461delinsCA (p.Pro487=) c.4022_4023delinsCA (p.Pro1341=) c.4787_4788delinsCA (p.Pro1596=) c.4976_4977delinsCA (p.Pro1659=) c.4769_4770delinsCA (p.Pro1590=) c.1472_1473delinsCA (p.Pro491=) c.1517_1518delinsCA (p.Pro506=) c.4973_4974delinsCA (p.Pro1658=) c.1297_1298delinsCA c.1484_1485delinsCA (p.Pro495=) c.*4693_*4694delinsCA (n.*4693_*4694delinsCA) n.63_64delinsCA c.1223_1224delinsCA (p.Pro408=) c.5-7053_5-7052delinsCA (n.5-7053_5-7052delinsCA) c.383_384delinsCA (p.Pro128=) c.-98-20814_-98-20813delinsCA (n.-98-20814_-98-20813delinsCA) n.5046_5047delinsCA n.5087_5088delinsCA | |
17 | g.43071004G>A | CA003076 | BRCA1 | c.4907C>T (p.Pro1636Leu) c.4910C>T (p.Pro1637Leu) c.4784C>T (p.Pro1595Leu) c.4904C>T (p.Pro1635Leu) c.4832C>T (p.Pro1611Leu) c.1598C>T (p.Pro533Leu) c.1460C>T (p.Pro487Leu) c.4022C>T (p.Pro1341Leu) c.4787C>T (p.Pro1596Leu) c.4976C>T (p.Pro1659Leu) c.4769C>T (p.Pro1590Leu) c.1472C>T (p.Pro491Leu) c.1517C>T (p.Pro506Leu) c.4973C>T (p.Pro1658Leu) c.1297C>T c.1484C>T (p.Pro495Leu) c.*4693C>T (n.*4693C>T) n.63C>T c.1223C>T (p.Pro408Leu) c.5-7053C>T (n.5-7053C>T) c.383C>T (p.Pro128Leu) c.-98-20814C>T (n.-98-20814C>T) n.5046C>T n.5087C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071004G>C | CA10591702 | BRCA1 | c.4907C>G (p.Pro1636Arg) c.4910C>G (p.Pro1637Arg) c.4784C>G (p.Pro1595Arg) c.4904C>G (p.Pro1635Arg) c.4832C>G (p.Pro1611Arg) c.1598C>G (p.Pro533Arg) c.1460C>G (p.Pro487Arg) c.4022C>G (p.Pro1341Arg) c.4787C>G (p.Pro1596Arg) c.4976C>G (p.Pro1659Arg) c.4769C>G (p.Pro1590Arg) c.1472C>G (p.Pro491Arg) c.1517C>G (p.Pro506Arg) c.4973C>G (p.Pro1658Arg) c.1297C>G c.1484C>G (p.Pro495Arg) c.*4693C>G (n.*4693C>G) n.63C>G c.1223C>G (p.Pro408Arg) c.5-7053C>G (n.5-7053C>G) c.383C>G (p.Pro128Arg) c.-98-20814C>G (n.-98-20814C>G) n.5046C>G n.5087C>G | ClinVar dbSNP |
17 | g.43071004G= | CA2260772824 | BRCA1 | c.4907C= (p.Pro1636=) c.4910C= (p.Pro1637=) c.4784C= (p.Pro1595=) c.4904C= (p.Pro1635=) c.4832C= (p.Pro1611=) c.1598C= (p.Pro533=) c.1460C= (p.Pro487=) c.4022C= (p.Pro1341=) c.4787C= (p.Pro1596=) c.4976C= (p.Pro1659=) c.4769C= (p.Pro1590=) c.1472C= (p.Pro491=) c.1517C= (p.Pro506=) c.4973C= (p.Pro1658=) c.1297C= c.1484C= (p.Pro495=) c.*4693C= (n.*4693C=) n.63C= c.1223C= (p.Pro408=) c.5-7053C= (n.5-7053C=) c.383C= (p.Pro128=) c.-98-20814C= (n.-98-20814C=) n.5046C= n.5087C= | |
17 | g.43071004G>T | CA10591703 | BRCA1 | c.4907C>A (p.Pro1636Gln) c.4910C>A (p.Pro1637Gln) c.4784C>A (p.Pro1595Gln) c.4904C>A (p.Pro1635Gln) c.4832C>A (p.Pro1611Gln) c.1598C>A (p.Pro533Gln) c.1460C>A (p.Pro487Gln) c.4022C>A (p.Pro1341Gln) c.4787C>A (p.Pro1596Gln) c.4976C>A (p.Pro1659Gln) c.4769C>A (p.Pro1590Gln) c.1472C>A (p.Pro491Gln) c.1517C>A (p.Pro506Gln) c.4973C>A (p.Pro1658Gln) c.1297C>A c.1484C>A (p.Pro495Gln) c.*4693C>A (n.*4693C>A) n.63C>A c.1223C>A (p.Pro408Gln) c.5-7053C>A (n.5-7053C>A) c.383C>A (p.Pro128Gln) c.-98-20814C>A (n.-98-20814C>A) n.5046C>A n.5087C>A | ClinVar dbSNP |
17 | g.43071005del | CA003077 | BRCA1 | c.4907del (p.Pro1636GlnfsTer3) c.4910del (p.Pro1637GlnfsTer3) c.4784del (p.Pro1595GlnfsTer3) c.4904del (p.Pro1635GlnfsTer3) c.4832del (p.Pro1611GlnfsTer3) c.1598del (p.Pro533GlnfsTer3) c.1460del (p.Pro487GlnfsTer3) c.4022del (p.Pro1341GlnfsTer3) c.4787del (p.Pro1596GlnfsTer3) c.4976del (p.Pro1659GlnfsTer3) c.4769del (p.Pro1590GlnfsTer3) c.1472del (p.Pro491GlnfsTer3) c.1517del (p.Pro506GlnfsTer3) c.4973del (p.Pro1658GlnfsTer3) c.1297del c.1484del (p.Pro495GlnfsTer3) c.*4693del (n.*4693del) n.63del c.1223del (p.Pro408GlnfsTer3) c.5-7053del (n.5-7053del) c.383del (p.Pro128GlnfsTer3) c.-98-20814del (n.-98-20814del) n.5046del n.5087del | ClinVar dbSNP |
17 | g.43071005G>A | CA10580506 | BRCA1 | c.4906C>T (p.Pro1636Ser) c.4909C>T (p.Pro1637Ser) c.4783C>T (p.Pro1595Ser) c.4903C>T (p.Pro1635Ser) c.4831C>T (p.Pro1611Ser) c.1597C>T (p.Pro533Ser) c.1459C>T (p.Pro487Ser) c.4021C>T (p.Pro1341Ser) c.4786C>T (p.Pro1596Ser) c.4975C>T (p.Pro1659Ser) c.4768C>T (p.Pro1590Ser) c.1471C>T (p.Pro491Ser) c.1516C>T (p.Pro506Ser) c.4972C>T (p.Pro1658Ser) c.1296C>T c.1483C>T (p.Pro495Ser) c.*4692C>T (n.*4692C>T) n.62C>T c.1222C>T (p.Pro408Ser) c.5-7054C>T (n.5-7054C>T) c.382C>T (p.Pro128Ser) c.-98-20815C>T (n.-98-20815C>T) n.5045C>T n.5086C>T | ClinVar dbSNP |
17 | g.43071005G>C | CA10591704 | BRCA1 | c.4906C>G (p.Pro1636Ala) c.4909C>G (p.Pro1637Ala) c.4783C>G (p.Pro1595Ala) c.4903C>G (p.Pro1635Ala) c.4831C>G (p.Pro1611Ala) c.1597C>G (p.Pro533Ala) c.1459C>G (p.Pro487Ala) c.4021C>G (p.Pro1341Ala) c.4786C>G (p.Pro1596Ala) c.4975C>G (p.Pro1659Ala) c.4768C>G (p.Pro1590Ala) c.1471C>G (p.Pro491Ala) c.1516C>G (p.Pro506Ala) c.4972C>G (p.Pro1658Ala) c.1296C>G c.1483C>G (p.Pro495Ala) c.*4692C>G (n.*4692C>G) n.62C>G c.1222C>G (p.Pro408Ala) c.5-7054C>G (n.5-7054C>G) c.382C>G (p.Pro128Ala) c.-98-20815C>G (n.-98-20815C>G) n.5045C>G n.5086C>G | ClinVar dbSNP |
17 | g.43071005G= | CA2260772825 | BRCA1 | c.4906C= (p.Pro1636=) c.4909C= (p.Pro1637=) c.4783C= (p.Pro1595=) c.4903C= (p.Pro1635=) c.4831C= (p.Pro1611=) c.1597C= (p.Pro533=) c.1459C= (p.Pro487=) c.4021C= (p.Pro1341=) c.4786C= (p.Pro1596=) c.4975C= (p.Pro1659=) c.4768C= (p.Pro1590=) c.1471C= (p.Pro491=) c.1516C= (p.Pro506=) c.4972C= (p.Pro1658=) c.1296C= c.1483C= (p.Pro495=) c.*4692C= (n.*4692C=) n.62C= c.1222C= (p.Pro408=) c.5-7054C= (n.5-7054C=) c.382C= (p.Pro128=) c.-98-20815C= (n.-98-20815C=) n.5045C= n.5086C= | |
17 | g.43071005G>T | CA10591705 | BRCA1 | c.4906C>A (p.Pro1636Thr) c.4909C>A (p.Pro1637Thr) c.4783C>A (p.Pro1595Thr) c.4903C>A (p.Pro1635Thr) c.4831C>A (p.Pro1611Thr) c.1597C>A (p.Pro533Thr) c.1459C>A (p.Pro487Thr) c.4021C>A (p.Pro1341Thr) c.4786C>A (p.Pro1596Thr) c.4975C>A (p.Pro1659Thr) c.4768C>A (p.Pro1590Thr) c.1471C>A (p.Pro491Thr) c.1516C>A (p.Pro506Thr) c.4972C>A (p.Pro1658Thr) c.1296C>A c.1483C>A (p.Pro495Thr) c.*4692C>A (n.*4692C>A) n.62C>A c.1222C>A (p.Pro408Thr) c.5-7054C>A (n.5-7054C>A) c.382C>A (p.Pro128Thr) c.-98-20815C>A (n.-98-20815C>A) n.5045C>A n.5086C>A | ClinVar dbSNP |
17 | g.43071006C>A | CA10591706 | BRCA1 | c.4905G>T (p.Lys1635Asn) c.4908G>T (p.Lys1636Asn) c.4782G>T (p.Lys1594Asn) c.4902G>T (p.Lys1634Asn) c.4830G>T (p.Lys1610Asn) c.1596G>T (p.Lys532Asn) c.1458G>T (p.Lys486Asn) c.4020G>T (p.Lys1340Asn) c.4785G>T (p.Lys1595Asn) c.4974G>T (p.Lys1658Asn) c.4767G>T (p.Lys1589Asn) c.1470G>T (p.Lys490Asn) c.1515G>T (p.Lys505Asn) c.4971G>T (p.Lys1657Asn) c.1295G>T c.1482G>T (p.Lys494Asn) c.*4691G>T (n.*4691G>T) n.61G>T c.1221G>T (p.Lys407Asn) c.5-7055G>T (n.5-7055G>T) c.381G>T (p.Lys127Asn) c.-98-20816G>T (n.-98-20816G>T) n.5044G>T n.5085G>T | ClinVar dbSNP |
17 | g.43071006C= | CA2260772826 | BRCA1 | c.4905G= (p.Lys1635=) c.4908G= (p.Lys1636=) c.4782G= (p.Lys1594=) c.4902G= (p.Lys1634=) c.4830G= (p.Lys1610=) c.1596G= (p.Lys532=) c.1458G= (p.Lys486=) c.4020G= (p.Lys1340=) c.4785G= (p.Lys1595=) c.4974G= (p.Lys1658=) c.4767G= (p.Lys1589=) c.1470G= (p.Lys490=) c.1515G= (p.Lys505=) c.4971G= (p.Lys1657=) c.1295G= c.1482G= (p.Lys494=) c.*4691G= (n.*4691G=) n.61G= c.1221G= (p.Lys407=) c.5-7055G= (n.5-7055G=) c.381G= (p.Lys127=) c.-98-20816G= (n.-98-20816G=) n.5044G= n.5085G= | |
17 | g.43071006C>G | CA10591707 | BRCA1 | c.4905G>C (p.Lys1635Asn) c.4908G>C (p.Lys1636Asn) c.4782G>C (p.Lys1594Asn) c.4902G>C (p.Lys1634Asn) c.4830G>C (p.Lys1610Asn) c.1596G>C (p.Lys532Asn) c.1458G>C (p.Lys486Asn) c.4020G>C (p.Lys1340Asn) c.4785G>C (p.Lys1595Asn) c.4974G>C (p.Lys1658Asn) c.4767G>C (p.Lys1589Asn) c.1470G>C (p.Lys490Asn) c.1515G>C (p.Lys505Asn) c.4971G>C (p.Lys1657Asn) c.1295G>C c.1482G>C (p.Lys494Asn) c.*4691G>C (n.*4691G>C) n.61G>C c.1221G>C (p.Lys407Asn) c.5-7055G>C (n.5-7055G>C) c.381G>C (p.Lys127Asn) c.-98-20816G>C (n.-98-20816G>C) n.5044G>C n.5085G>C | ClinVar dbSNP |
17 | g.43071006C>T | CA500231688 | BRCA1 | c.4905G>A (p.Lys1635=) c.4908G>A (p.Lys1636=) c.4782G>A (p.Lys1594=) c.4902G>A (p.Lys1634=) c.4830G>A (p.Lys1610=) c.1596G>A (p.Lys532=) c.1458G>A (p.Lys486=) c.4020G>A (p.Lys1340=) c.4785G>A (p.Lys1595=) c.4974G>A (p.Lys1658=) c.4767G>A (p.Lys1589=) c.1470G>A (p.Lys490=) c.1515G>A (p.Lys505=) c.4971G>A (p.Lys1657=) c.1295G>A c.1482G>A (p.Lys494=) c.*4691G>A (n.*4691G>A) n.61G>A c.1221G>A (p.Lys407=) c.5-7055G>A (n.5-7055G>A) c.381G>A (p.Lys127=) c.-98-20816G>A (n.-98-20816G>A) n.5044G>A n.5085G>A | ClinVar dbSNP |
17 | g.43071007T>A | CA10591708 | BRCA1 | c.4904A>T (p.Lys1635Met) c.4907A>T (p.Lys1636Met) c.4781A>T (p.Lys1594Met) c.4901A>T (p.Lys1634Met) c.4829A>T (p.Lys1610Met) c.1595A>T (p.Lys532Met) c.1457A>T (p.Lys486Met) c.4019A>T (p.Lys1340Met) c.4784A>T (p.Lys1595Met) c.4973A>T (p.Lys1658Met) c.4766A>T (p.Lys1589Met) c.1469A>T (p.Lys490Met) c.1514A>T (p.Lys505Met) c.4970A>T (p.Lys1657Met) c.1294A>T c.1481A>T (p.Lys494Met) c.*4690A>T (n.*4690A>T) n.60A>T c.1220A>T (p.Lys407Met) c.5-7056A>T (n.5-7056A>T) c.380A>T (p.Lys127Met) c.-98-20817A>T (n.-98-20817A>T) n.5043A>T n.5084A>T | ClinVar dbSNP |
17 | g.43071007T>C | CA10591709 | BRCA1 | c.4904A>G (p.Lys1635Arg) c.4907A>G (p.Lys1636Arg) c.4781A>G (p.Lys1594Arg) c.4901A>G (p.Lys1634Arg) c.4829A>G (p.Lys1610Arg) c.1595A>G (p.Lys532Arg) c.1457A>G (p.Lys486Arg) c.4019A>G (p.Lys1340Arg) c.4784A>G (p.Lys1595Arg) c.4973A>G (p.Lys1658Arg) c.4766A>G (p.Lys1589Arg) c.1469A>G (p.Lys490Arg) c.1514A>G (p.Lys505Arg) c.4970A>G (p.Lys1657Arg) c.1294A>G c.1481A>G (p.Lys494Arg) c.*4690A>G (n.*4690A>G) n.60A>G c.1220A>G (p.Lys407Arg) c.5-7056A>G (n.5-7056A>G) c.380A>G (p.Lys127Arg) c.-98-20817A>G (n.-98-20817A>G) n.5043A>G n.5084A>G | ClinVar dbSNP |
17 | g.43071007T>G | CA10591710 | BRCA1 | c.4904A>C (p.Lys1635Thr) c.4907A>C (p.Lys1636Thr) c.4781A>C (p.Lys1594Thr) c.4901A>C (p.Lys1634Thr) c.4829A>C (p.Lys1610Thr) c.1595A>C (p.Lys532Thr) c.1457A>C (p.Lys486Thr) c.4019A>C (p.Lys1340Thr) c.4784A>C (p.Lys1595Thr) c.4973A>C (p.Lys1658Thr) c.4766A>C (p.Lys1589Thr) c.1469A>C (p.Lys490Thr) c.1514A>C (p.Lys505Thr) c.4970A>C (p.Lys1657Thr) c.1294A>C c.1481A>C (p.Lys494Thr) c.*4690A>C (n.*4690A>C) n.60A>C c.1220A>C (p.Lys407Thr) c.5-7056A>C (n.5-7056A>C) c.380A>C (p.Lys127Thr) c.-98-20817A>C (n.-98-20817A>C) n.5043A>C n.5084A>C | ClinVar dbSNP |
17 | g.43071007T= | CA2260772828 | BRCA1 | c.4904A= (p.Lys1635=) c.4907A= (p.Lys1636=) c.4781A= (p.Lys1594=) c.4901A= (p.Lys1634=) c.4829A= (p.Lys1610=) c.1595A= (p.Lys532=) c.1457A= (p.Lys486=) c.4019A= (p.Lys1340=) c.4784A= (p.Lys1595=) c.4973A= (p.Lys1658=) c.4766A= (p.Lys1589=) c.1469A= (p.Lys490=) c.1514A= (p.Lys505=) c.4970A= (p.Lys1657=) c.1294A= c.1481A= (p.Lys494=) c.*4690A= (n.*4690A=) n.60A= c.1220A= (p.Lys407=) c.5-7056A= (n.5-7056A=) c.380A= (p.Lys127=) c.-98-20817A= (n.-98-20817A=) n.5043A= n.5084A= | |
17 | g.43071008del | CA2733912920 | BRCA1 | c.4904del (p.Lys1635SerfsTer4) c.4907del (p.Lys1636SerfsTer4) c.4781del (p.Lys1594SerfsTer4) c.4901del (p.Lys1634SerfsTer4) c.4829del (p.Lys1610SerfsTer4) c.1595del (p.Lys532SerfsTer4) c.1457del (p.Lys486SerfsTer4) c.4019del (p.Lys1340SerfsTer4) c.4784del (p.Lys1595SerfsTer4) c.4973del (p.Lys1658SerfsTer4) c.4766del (p.Lys1589SerfsTer4) c.1469del (p.Lys490SerfsTer4) c.1514del (p.Lys505SerfsTer4) c.4970del (p.Lys1657SerfsTer4) c.1294del c.1481del (p.Lys494SerfsTer4) c.*4690del (n.*4690del) n.60del c.1220del (p.Lys407SerfsTer4) c.5-7056del (n.5-7056del) c.380del (p.Lys127SerfsTer4) c.-98-20817del (n.-98-20817del) n.5043del n.5084del | dbSNP |
17 | g.43071007_43071009delinsTTC | CA2260772827 | BRCA1 | c.4902_4904delinsGAA (p.Glu1634=) c.4905_4907delinsGAA (p.Glu1635=) c.4779_4781delinsGAA (p.Glu1593=) c.4899_4901delinsGAA (p.Glu1633=) c.4827_4829delinsGAA (p.Glu1609=) c.1593_1595delinsGAA (p.Glu531=) c.1455_1457delinsGAA (p.Glu485=) c.4017_4019delinsGAA (p.Glu1339=) c.4782_4784delinsGAA (p.Glu1594=) c.4971_4973delinsGAA (p.Glu1657=) c.4764_4766delinsGAA (p.Glu1588=) c.1467_1469delinsGAA (p.Glu489=) c.1512_1514delinsGAA (p.Glu504=) c.4968_4970delinsGAA (p.Glu1656=) c.1292_1294delinsGAA c.1479_1481delinsGAA (p.Glu493=) c.*4688_*4690delinsGAA (n.*4688_*4690delinsGAA) n.58_60delinsGAA c.1218_1220delinsGAA (p.Glu406=) c.5-7058_5-7056delinsGAA (n.5-7058_5-7056delinsGAA) c.378_380delinsGAA (p.Glu126=) c.-98-20819_-98-20817delinsGAA (n.-98-20819_-98-20817delinsGAA) n.5041_5043delinsGAA n.5082_5084delinsGAA | |
17 | g.43071008T>A | CA10591711 | BRCA1 | c.4903A>T (p.Lys1635Ter) c.4906A>T (p.Lys1636Ter) c.4780A>T (p.Lys1594Ter) c.4900A>T (p.Lys1634Ter) c.4828A>T (p.Lys1610Ter) c.1594A>T (p.Lys532Ter) c.1456A>T (p.Lys486Ter) c.4018A>T (p.Lys1340Ter) c.4783A>T (p.Lys1595Ter) c.4972A>T (p.Lys1658Ter) c.4765A>T (p.Lys1589Ter) c.1468A>T (p.Lys490Ter) c.1513A>T (p.Lys505Ter) c.4969A>T (p.Lys1657Ter) c.1293A>T c.1480A>T (p.Lys494Ter) c.*4689A>T (n.*4689A>T) n.59A>T c.1219A>T (p.Lys407Ter) c.5-7057A>T (n.5-7057A>T) c.379A>T (p.Lys127Ter) c.-98-20818A>T (n.-98-20818A>T) n.5042A>T n.5083A>T | ClinVar dbSNP |
17 | g.43071008T>C | CA10591712 | BRCA1 | c.4903A>G (p.Lys1635Glu) c.4906A>G (p.Lys1636Glu) c.4780A>G (p.Lys1594Glu) c.4900A>G (p.Lys1634Glu) c.4828A>G (p.Lys1610Glu) c.1594A>G (p.Lys532Glu) c.1456A>G (p.Lys486Glu) c.4018A>G (p.Lys1340Glu) c.4783A>G (p.Lys1595Glu) c.4972A>G (p.Lys1658Glu) c.4765A>G (p.Lys1589Glu) c.1468A>G (p.Lys490Glu) c.1513A>G (p.Lys505Glu) c.4969A>G (p.Lys1657Glu) c.1293A>G c.1480A>G (p.Lys494Glu) c.*4689A>G (n.*4689A>G) n.59A>G c.1219A>G (p.Lys407Glu) c.5-7057A>G (n.5-7057A>G) c.379A>G (p.Lys127Glu) c.-98-20818A>G (n.-98-20818A>G) n.5042A>G n.5083A>G | ClinVar dbSNP |
17 | g.43071008T>G | CA10591713 | BRCA1 | c.4903A>C (p.Lys1635Gln) c.4906A>C (p.Lys1636Gln) c.4780A>C (p.Lys1594Gln) c.4900A>C (p.Lys1634Gln) c.4828A>C (p.Lys1610Gln) c.1594A>C (p.Lys532Gln) c.1456A>C (p.Lys486Gln) c.4018A>C (p.Lys1340Gln) c.4783A>C (p.Lys1595Gln) c.4972A>C (p.Lys1658Gln) c.4765A>C (p.Lys1589Gln) c.1468A>C (p.Lys490Gln) c.1513A>C (p.Lys505Gln) c.4969A>C (p.Lys1657Gln) c.1293A>C c.1480A>C (p.Lys494Gln) c.*4689A>C (n.*4689A>C) n.59A>C c.1219A>C (p.Lys407Gln) c.5-7057A>C (n.5-7057A>C) c.379A>C (p.Lys127Gln) c.-98-20818A>C (n.-98-20818A>C) n.5042A>C n.5083A>C | ClinVar dbSNP |
17 | g.43071008T= | CA2260772829 | BRCA1 | c.4903A= (p.Lys1635=) c.4906A= (p.Lys1636=) c.4780A= (p.Lys1594=) c.4900A= (p.Lys1634=) c.4828A= (p.Lys1610=) c.1594A= (p.Lys532=) c.1456A= (p.Lys486=) c.4018A= (p.Lys1340=) c.4783A= (p.Lys1595=) c.4972A= (p.Lys1658=) c.4765A= (p.Lys1589=) c.1468A= (p.Lys490=) c.1513A= (p.Lys505=) c.4969A= (p.Lys1657=) c.1293A= c.1480A= (p.Lys494=) c.*4689A= (n.*4689A=) n.59A= c.1219A= (p.Lys407=) c.5-7057A= (n.5-7057A=) c.379A= (p.Lys127=) c.-98-20818A= (n.-98-20818A=) n.5042A= n.5083A= | |
17 | g.43071010_43071011del | CA003074 | BRCA1 | c.4902_4903del (p.Lys1635AlafsTer?) c.4905_4906del (p.Lys1636AlafsTer?) c.4779_4780del (p.Lys1594AlafsTer?) c.4899_4900del (p.Lys1634AlafsTer?) c.4827_4828del (p.Lys1610AlafsTer?) c.1593_1594del (p.Lys532AlafsTer?) c.1455_1456del (p.Lys486AlafsTer?) c.4017_4018del (p.Lys1340AlafsTer?) c.4782_4783del (p.Lys1595AlafsTer?) c.4971_4972del (p.Lys1658AlafsTer?) c.4764_4765del (p.Lys1589AlafsTer?) c.1467_1468del (p.Lys490AlafsTer?) c.1512_1513del (p.Lys505AlafsTer?) c.4968_4969del (p.Lys1657AlafsTer?) c.1292_1293del c.1479_1480del (p.Lys494AlafsTer?) c.*4688_*4689del (n.*4688_*4689del) n.58_59del c.1218_1219del (p.Lys407AlafsTer?) c.5-7058_5-7057del (n.5-7058_5-7057del) c.378_379del (p.Lys127AlafsTer?) c.-98-20819_-98-20818del (n.-98-20819_-98-20818del) n.5041_5042del n.5082_5083del | ClinVar dbSNP |
17 | g.43071009C>A | CA10591714 | BRCA1 | c.4902G>T (p.Glu1634Asp) c.4905G>T (p.Glu1635Asp) c.4779G>T (p.Glu1593Asp) c.4899G>T (p.Glu1633Asp) c.4827G>T (p.Glu1609Asp) c.1593G>T (p.Glu531Asp) c.1455G>T (p.Glu485Asp) c.4017G>T (p.Glu1339Asp) c.4782G>T (p.Glu1594Asp) c.4971G>T (p.Glu1657Asp) c.4764G>T (p.Glu1588Asp) c.1467G>T (p.Glu489Asp) c.1512G>T (p.Glu504Asp) c.4968G>T (p.Glu1656Asp) c.1292G>T c.1479G>T (p.Glu493Asp) c.*4688G>T (n.*4688G>T) n.58G>T c.1218G>T (p.Glu406Asp) c.5-7058G>T (n.5-7058G>T) c.378G>T (p.Glu126Asp) c.-98-20819G>T (n.-98-20819G>T) n.5041G>T n.5082G>T | ClinVar dbSNP |
17 | g.43071009C= | CA2260772830 | BRCA1 | c.4902G= (p.Glu1634=) c.4905G= (p.Glu1635=) c.4779G= (p.Glu1593=) c.4899G= (p.Glu1633=) c.4827G= (p.Glu1609=) c.1593G= (p.Glu531=) c.1455G= (p.Glu485=) c.4017G= (p.Glu1339=) c.4782G= (p.Glu1594=) c.4971G= (p.Glu1657=) c.4764G= (p.Glu1588=) c.1467G= (p.Glu489=) c.1512G= (p.Glu504=) c.4968G= (p.Glu1656=) c.1292G= c.1479G= (p.Glu493=) c.*4688G= (n.*4688G=) n.58G= c.1218G= (p.Glu406=) c.5-7058G= (n.5-7058G=) c.378G= (p.Glu126=) c.-98-20819G= (n.-98-20819G=) n.5041G= n.5082G= | |
17 | g.43071009C>G | CA10591715 | BRCA1 | c.4902G>C (p.Glu1634Asp) c.4905G>C (p.Glu1635Asp) c.4779G>C (p.Glu1593Asp) c.4899G>C (p.Glu1633Asp) c.4827G>C (p.Glu1609Asp) c.1593G>C (p.Glu531Asp) c.1455G>C (p.Glu485Asp) c.4017G>C (p.Glu1339Asp) c.4782G>C (p.Glu1594Asp) c.4971G>C (p.Glu1657Asp) c.4764G>C (p.Glu1588Asp) c.1467G>C (p.Glu489Asp) c.1512G>C (p.Glu504Asp) c.4968G>C (p.Glu1656Asp) c.1292G>C c.1479G>C (p.Glu493Asp) c.*4688G>C (n.*4688G>C) n.58G>C c.1218G>C (p.Glu406Asp) c.5-7058G>C (n.5-7058G>C) c.378G>C (p.Glu126Asp) c.-98-20819G>C (n.-98-20819G>C) n.5041G>C n.5082G>C | ClinVar dbSNP |
17 | g.43071009C>T | CA500231696 | BRCA1 | c.4902G>A (p.Glu1634=) c.4905G>A (p.Glu1635=) c.4779G>A (p.Glu1593=) c.4899G>A (p.Glu1633=) c.4827G>A (p.Glu1609=) c.1593G>A (p.Glu531=) c.1455G>A (p.Glu485=) c.4017G>A (p.Glu1339=) c.4782G>A (p.Glu1594=) c.4971G>A (p.Glu1657=) c.4764G>A (p.Glu1588=) c.1467G>A (p.Glu489=) c.1512G>A (p.Glu504=) c.4968G>A (p.Glu1656=) c.1292G>A c.1479G>A (p.Glu493=) c.*4688G>A (n.*4688G>A) n.58G>A c.1218G>A (p.Glu406=) c.5-7058G>A (n.5-7058G>A) c.378G>A (p.Glu126=) c.-98-20819G>A (n.-98-20819G>A) n.5041G>A n.5082G>A | ClinVar dbSNP COSMIC COSMIC |
17 | g.43071010T>A | CA10591716 | BRCA1 | c.4901A>T (p.Glu1634Val) c.4904A>T (p.Glu1635Val) c.4778A>T (p.Glu1593Val) c.4898A>T (p.Glu1633Val) c.4826A>T (p.Glu1609Val) c.1592A>T (p.Glu531Val) c.1454A>T (p.Glu485Val) c.4016A>T (p.Glu1339Val) c.4781A>T (p.Glu1594Val) c.4970A>T (p.Glu1657Val) c.4763A>T (p.Glu1588Val) c.1466A>T (p.Glu489Val) c.1511A>T (p.Glu504Val) c.4967A>T (p.Glu1656Val) c.1291A>T c.1478A>T (p.Glu493Val) c.*4687A>T (n.*4687A>T) n.57A>T c.1217A>T (p.Glu406Val) c.5-7059A>T (n.5-7059A>T) c.377A>T (p.Glu126Val) c.-98-20820A>T (n.-98-20820A>T) n.5040A>T n.5081A>T | ClinVar dbSNP |
17 | g.43071010T>C | CA10591717 | BRCA1 | c.4901A>G (p.Glu1634Gly) c.4904A>G (p.Glu1635Gly) c.4778A>G (p.Glu1593Gly) c.4898A>G (p.Glu1633Gly) c.4826A>G (p.Glu1609Gly) c.1592A>G (p.Glu531Gly) c.1454A>G (p.Glu485Gly) c.4016A>G (p.Glu1339Gly) c.4781A>G (p.Glu1594Gly) c.4970A>G (p.Glu1657Gly) c.4763A>G (p.Glu1588Gly) c.1466A>G (p.Glu489Gly) c.1511A>G (p.Glu504Gly) c.4967A>G (p.Glu1656Gly) c.1291A>G c.1478A>G (p.Glu493Gly) c.*4687A>G (n.*4687A>G) n.57A>G c.1217A>G (p.Glu406Gly) c.5-7059A>G (n.5-7059A>G) c.377A>G (p.Glu126Gly) c.-98-20820A>G (n.-98-20820A>G) n.5040A>G n.5081A>G | ClinVar dbSNP |
17 | g.43071010T>G | CA10591718 | BRCA1 | c.4901A>C (p.Glu1634Ala) c.4904A>C (p.Glu1635Ala) c.4778A>C (p.Glu1593Ala) c.4898A>C (p.Glu1633Ala) c.4826A>C (p.Glu1609Ala) c.1592A>C (p.Glu531Ala) c.1454A>C (p.Glu485Ala) c.4016A>C (p.Glu1339Ala) c.4781A>C (p.Glu1594Ala) c.4970A>C (p.Glu1657Ala) c.4763A>C (p.Glu1588Ala) c.1466A>C (p.Glu489Ala) c.1511A>C (p.Glu504Ala) c.4967A>C (p.Glu1656Ala) c.1291A>C c.1478A>C (p.Glu493Ala) c.*4687A>C (n.*4687A>C) n.57A>C c.1217A>C (p.Glu406Ala) c.5-7059A>C (n.5-7059A>C) c.377A>C (p.Glu126Ala) c.-98-20820A>C (n.-98-20820A>C) n.5040A>C n.5081A>C | ClinVar dbSNP |
17 | g.43071010T= | CA2260772832 | BRCA1 | c.4901A= (p.Glu1634=) c.4904A= (p.Glu1635=) c.4778A= (p.Glu1593=) c.4898A= (p.Glu1633=) c.4826A= (p.Glu1609=) c.1592A= (p.Glu531=) c.1454A= (p.Glu485=) c.4016A= (p.Glu1339=) c.4781A= (p.Glu1594=) c.4970A= (p.Glu1657=) c.4763A= (p.Glu1588=) c.1466A= (p.Glu489=) c.1511A= (p.Glu504=) c.4967A= (p.Glu1656=) c.1291A= c.1478A= (p.Glu493=) c.*4687A= (n.*4687A=) n.57A= c.1217A= (p.Glu406=) c.5-7059A= (n.5-7059A=) c.377A= (p.Glu126=) c.-98-20820A= (n.-98-20820A=) n.5040A= n.5081A= | |
17 | g.43071010_43071011delinsTC | CA2260772831 | BRCA1 | c.4900_4901delinsGA (p.Glu1634=) c.4903_4904delinsGA (p.Glu1635=) c.4777_4778delinsGA (p.Glu1593=) c.4897_4898delinsGA (p.Glu1633=) c.4825_4826delinsGA (p.Glu1609=) c.1591_1592delinsGA (p.Glu531=) c.1453_1454delinsGA (p.Glu485=) c.4015_4016delinsGA (p.Glu1339=) c.4780_4781delinsGA (p.Glu1594=) c.4969_4970delinsGA (p.Glu1657=) c.4762_4763delinsGA (p.Glu1588=) c.1465_1466delinsGA (p.Glu489=) c.1510_1511delinsGA (p.Glu504=) c.4966_4967delinsGA (p.Glu1656=) c.1290_1291delinsGA c.1477_1478delinsGA (p.Glu493=) c.*4686_*4687delinsGA (n.*4686_*4687delinsGA) n.56_57delinsGA c.1216_1217delinsGA (p.Glu406=) c.5-7060_5-7059delinsGA (n.5-7060_5-7059delinsGA) c.376_377delinsGA (p.Glu126=) c.-98-20821_-98-20820delinsGA (n.-98-20821_-98-20820delinsGA) n.5039_5040delinsGA n.5080_5081delinsGA | |
17 | g.43071011C>A | CA003073 | BRCA1 | c.4900G>T (p.Glu1634Ter) c.4903G>T (p.Glu1635Ter) c.4777G>T (p.Glu1593Ter) c.4897G>T (p.Glu1633Ter) c.4825G>T (p.Glu1609Ter) c.1591G>T (p.Glu531Ter) c.1453G>T (p.Glu485Ter) c.4015G>T (p.Glu1339Ter) c.4780G>T (p.Glu1594Ter) c.4969G>T (p.Glu1657Ter) c.4762G>T (p.Glu1588Ter) c.1465G>T (p.Glu489Ter) c.1510G>T (p.Glu504Ter) c.4966G>T (p.Glu1656Ter) c.1290G>T c.1477G>T (p.Glu493Ter) c.*4686G>T (n.*4686G>T) n.56G>T c.1216G>T (p.Glu406Ter) c.5-7060G>T (n.5-7060G>T) c.376G>T (p.Glu126Ter) c.-98-20821G>T (n.-98-20821G>T) n.5039G>T n.5080G>T | ClinVar dbSNP |
17 | g.43071011C= | CA2260772833 | BRCA1 | c.4900G= (p.Glu1634=) c.4903G= (p.Glu1635=) c.4777G= (p.Glu1593=) c.4897G= (p.Glu1633=) c.4825G= (p.Glu1609=) c.1591G= (p.Glu531=) c.1453G= (p.Glu485=) c.4015G= (p.Glu1339=) c.4780G= (p.Glu1594=) c.4969G= (p.Glu1657=) c.4762G= (p.Glu1588=) c.1465G= (p.Glu489=) c.1510G= (p.Glu504=) c.4966G= (p.Glu1656=) c.1290G= c.1477G= (p.Glu493=) c.*4686G= (n.*4686G=) n.56G= c.1216G= (p.Glu406=) c.5-7060G= (n.5-7060G=) c.376G= (p.Glu126=) c.-98-20821G= (n.-98-20821G=) n.5039G= n.5080G= | |
17 | g.43071011C>G | CA10591719 | BRCA1 | c.4900G>C (p.Glu1634Gln) c.4903G>C (p.Glu1635Gln) c.4777G>C (p.Glu1593Gln) c.4897G>C (p.Glu1633Gln) c.4825G>C (p.Glu1609Gln) c.1591G>C (p.Glu531Gln) c.1453G>C (p.Glu485Gln) c.4015G>C (p.Glu1339Gln) c.4780G>C (p.Glu1594Gln) c.4969G>C (p.Glu1657Gln) c.4762G>C (p.Glu1588Gln) c.1465G>C (p.Glu489Gln) c.1510G>C (p.Glu504Gln) c.4966G>C (p.Glu1656Gln) c.1290G>C c.1477G>C (p.Glu493Gln) c.*4686G>C (n.*4686G>C) n.56G>C c.1216G>C (p.Glu406Gln) c.5-7060G>C (n.5-7060G>C) c.376G>C (p.Glu126Gln) c.-98-20821G>C (n.-98-20821G>C) n.5039G>C n.5080G>C | ClinVar dbSNP |
17 | g.43071011C>T | CA003072 | BRCA1 | c.4900G>A (p.Glu1634Lys) c.4903G>A (p.Glu1635Lys) c.4777G>A (p.Glu1593Lys) c.4897G>A (p.Glu1633Lys) c.4825G>A (p.Glu1609Lys) c.1591G>A (p.Glu531Lys) c.1453G>A (p.Glu485Lys) c.4015G>A (p.Glu1339Lys) c.4780G>A (p.Glu1594Lys) c.4969G>A (p.Glu1657Lys) c.4762G>A (p.Glu1588Lys) c.1465G>A (p.Glu489Lys) c.1510G>A (p.Glu504Lys) c.4966G>A (p.Glu1656Lys) c.1290G>A c.1477G>A (p.Glu493Lys) c.*4686G>A (n.*4686G>A) n.56G>A c.1216G>A (p.Glu406Lys) c.5-7060G>A (n.5-7060G>A) c.376G>A (p.Glu126Lys) c.-98-20821G>A (n.-98-20821G>A) n.5039G>A n.5080G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071013dup | CA915950106 | BRCA1 | c.4900dup (p.Glu1634GlyfsTer?) c.4903dup (p.Glu1635GlyfsTer?) c.4777dup (p.Glu1593GlyfsTer?) c.4897dup (p.Glu1633GlyfsTer?) c.4825dup (p.Glu1609GlyfsTer?) c.1591dup (p.Glu531GlyfsTer?) c.1453dup (p.Glu485GlyfsTer?) c.4015dup (p.Glu1339GlyfsTer?) c.4780dup (p.Glu1594GlyfsTer?) c.4969dup (p.Glu1657GlyfsTer?) c.4762dup (p.Glu1588GlyfsTer?) c.1465dup (p.Glu489GlyfsTer?) c.1510dup (p.Glu504GlyfsTer?) c.4966dup (p.Glu1656GlyfsTer?) c.1290dup c.1477dup (p.Glu493GlyfsTer?) c.*4686dup (n.*4686dup) n.56dup c.1216dup (p.Glu406GlyfsTer?) c.5-7060dup (n.5-7060dup) c.376dup (p.Glu126GlyfsTer?) c.-98-20821dup (n.-98-20821dup) n.5039dup n.5080dup | ClinVar dbSNP |
17 | g.43071013del | CA645373142 | BRCA1 | c.4900del (p.Glu1634ArgfsTer5) c.4903del (p.Glu1635ArgfsTer5) c.4777del (p.Glu1593ArgfsTer5) c.4897del (p.Glu1633ArgfsTer5) c.4825del (p.Glu1609ArgfsTer5) c.1591del (p.Glu531ArgfsTer5) c.1453del (p.Glu485ArgfsTer5) c.4015del (p.Glu1339ArgfsTer5) c.4780del (p.Glu1594ArgfsTer5) c.4969del (p.Glu1657ArgfsTer5) c.4762del (p.Glu1588ArgfsTer5) c.1465del (p.Glu489ArgfsTer5) c.1510del (p.Glu504ArgfsTer5) c.4966del (p.Glu1656ArgfsTer5) c.1290del c.1477del (p.Glu493ArgfsTer5) c.*4686del (n.*4686del) n.56del c.1216del (p.Glu406ArgfsTer5) c.5-7060del (n.5-7060del) c.376del (p.Glu126ArgfsTer5) c.-98-20821del (n.-98-20821del) n.5039del n.5080del | ClinVar dbSNP |
17 | g.43071012C>A | CA053433 | BRCA1 | c.4899G>T (p.Arg1633Ser) c.4902G>T (p.Arg1634Ser) c.4776G>T (p.Arg1592Ser) c.4896G>T (p.Arg1632Ser) c.4824G>T (p.Arg1608Ser) c.1590G>T (p.Arg530Ser) c.1452G>T (p.Arg484Ser) c.4014G>T (p.Arg1338Ser) c.4779G>T (p.Arg1593Ser) c.4968G>T (p.Arg1656Ser) c.4761G>T (p.Arg1587Ser) c.1464G>T (p.Arg488Ser) c.1509G>T (p.Arg503Ser) c.4965G>T (p.Arg1655Ser) c.1289G>T c.1476G>T (p.Arg492Ser) c.*4685G>T (n.*4685G>T) n.55G>T c.1215G>T (p.Arg405Ser) c.5-7061G>T (n.5-7061G>T) c.375G>T (p.Arg125Ser) c.-98-20822G>T (n.-98-20822G>T) n.5038G>T n.5079G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43071012C= | CA2260772834 | BRCA1 | c.4899G= (p.Arg1633=) c.4902G= (p.Arg1634=) c.4776G= (p.Arg1592=) c.4896G= (p.Arg1632=) c.4824G= (p.Arg1608=) c.1590G= (p.Arg530=) c.1452G= (p.Arg484=) c.4014G= (p.Arg1338=) c.4779G= (p.Arg1593=) c.4968G= (p.Arg1656=) c.4761G= (p.Arg1587=) c.1464G= (p.Arg488=) c.1509G= (p.Arg503=) c.4965G= (p.Arg1655=) c.1289G= c.1476G= (p.Arg492=) c.*4685G= (n.*4685G=) n.55G= c.1215G= (p.Arg405=) c.5-7061G= (n.5-7061G=) c.375G= (p.Arg125=) c.-98-20822G= (n.-98-20822G=) n.5038G= n.5079G= | |
17 | g.43071012C>G | CA10591720 | BRCA1 | c.4899G>C (p.Arg1633Ser) c.4902G>C (p.Arg1634Ser) c.4776G>C (p.Arg1592Ser) c.4896G>C (p.Arg1632Ser) c.4824G>C (p.Arg1608Ser) c.1590G>C (p.Arg530Ser) c.1452G>C (p.Arg484Ser) c.4014G>C (p.Arg1338Ser) c.4779G>C (p.Arg1593Ser) c.4968G>C (p.Arg1656Ser) c.4761G>C (p.Arg1587Ser) c.1464G>C (p.Arg488Ser) c.1509G>C (p.Arg503Ser) c.4965G>C (p.Arg1655Ser) c.1289G>C c.1476G>C (p.Arg492Ser) c.*4685G>C (n.*4685G>C) n.55G>C c.1215G>C (p.Arg405Ser) c.5-7061G>C (n.5-7061G>C) c.375G>C (p.Arg125Ser) c.-98-20822G>C (n.-98-20822G>C) n.5038G>C n.5079G>C | ClinVar dbSNP |
17 | g.43071012C>T | CA339038 | BRCA1 | c.4899G>A (p.Arg1633=) c.4902G>A (p.Arg1634=) c.4776G>A (p.Arg1592=) c.4896G>A (p.Arg1632=) c.4824G>A (p.Arg1608=) c.1590G>A (p.Arg530=) c.1452G>A (p.Arg484=) c.4014G>A (p.Arg1338=) c.4779G>A (p.Arg1593=) c.4968G>A (p.Arg1656=) c.4761G>A (p.Arg1587=) c.1464G>A (p.Arg488=) c.1509G>A (p.Arg503=) c.4965G>A (p.Arg1655=) c.1289G>A c.1476G>A (p.Arg492=) c.*4685G>A (n.*4685G>A) n.55G>A c.1215G>A (p.Arg405=) c.5-7061G>A (n.5-7061G>A) c.375G>A (p.Arg125=) c.-98-20822G>A (n.-98-20822G>A) n.5038G>A n.5079G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43071013C>A | CA10591721 | BRCA1 | c.4898G>T (p.Arg1633Met) c.4901G>T (p.Arg1634Met) c.4775G>T (p.Arg1592Met) c.4895G>T (p.Arg1632Met) c.4823G>T (p.Arg1608Met) c.1589G>T (p.Arg530Met) c.1451G>T (p.Arg484Met) c.4013G>T (p.Arg1338Met) c.4778G>T (p.Arg1593Met) c.4967G>T (p.Arg1656Met) c.4760G>T (p.Arg1587Met) c.1463G>T (p.Arg488Met) c.1508G>T (p.Arg503Met) c.4964G>T (p.Arg1655Met) c.1288G>T c.1475G>T (p.Arg492Met) c.*4684G>T (n.*4684G>T) n.54G>T c.1214G>T (p.Arg405Met) c.5-7062G>T (n.5-7062G>T) c.374G>T (p.Arg125Met) c.-98-20823G>T (n.-98-20823G>T) n.5037G>T n.5078G>T | dbSNP |
17 | g.43071013C= | CA2260772835 | BRCA1 | c.4898G= (p.Arg1633=) c.4901G= (p.Arg1634=) c.4775G= (p.Arg1592=) c.4895G= (p.Arg1632=) c.4823G= (p.Arg1608=) c.1589G= (p.Arg530=) c.1451G= (p.Arg484=) c.4013G= (p.Arg1338=) c.4778G= (p.Arg1593=) c.4967G= (p.Arg1656=) c.4760G= (p.Arg1587=) c.1463G= (p.Arg488=) c.1508G= (p.Arg503=) c.4964G= (p.Arg1655=) c.1288G= c.1475G= (p.Arg492=) c.*4684G= (n.*4684G=) n.54G= c.1214G= (p.Arg405=) c.5-7062G= (n.5-7062G=) c.374G= (p.Arg125=) c.-98-20823G= (n.-98-20823G=) n.5037G= n.5078G= | |
17 | g.43071013C>G | CA10591722 | BRCA1 | c.4898G>C (p.Arg1633Thr) c.4901G>C (p.Arg1634Thr) c.4775G>C (p.Arg1592Thr) c.4895G>C (p.Arg1632Thr) c.4823G>C (p.Arg1608Thr) c.1589G>C (p.Arg530Thr) c.1451G>C (p.Arg484Thr) c.4013G>C (p.Arg1338Thr) c.4778G>C (p.Arg1593Thr) c.4967G>C (p.Arg1656Thr) c.4760G>C (p.Arg1587Thr) c.1463G>C (p.Arg488Thr) c.1508G>C (p.Arg503Thr) c.4964G>C (p.Arg1655Thr) c.1288G>C c.1475G>C (p.Arg492Thr) c.*4684G>C (n.*4684G>C) n.54G>C c.1214G>C (p.Arg405Thr) c.5-7062G>C (n.5-7062G>C) c.374G>C (p.Arg125Thr) c.-98-20823G>C (n.-98-20823G>C) n.5037G>C n.5078G>C | ClinVar dbSNP |
17 | g.43071013C>T | CA10591723 | BRCA1 | c.4898G>A (p.Arg1633Lys) c.4901G>A (p.Arg1634Lys) c.4775G>A (p.Arg1592Lys) c.4895G>A (p.Arg1632Lys) c.4823G>A (p.Arg1608Lys) c.1589G>A (p.Arg530Lys) c.1451G>A (p.Arg484Lys) c.4013G>A (p.Arg1338Lys) c.4778G>A (p.Arg1593Lys) c.4967G>A (p.Arg1656Lys) c.4760G>A (p.Arg1587Lys) c.1463G>A (p.Arg488Lys) c.1508G>A (p.Arg503Lys) c.4964G>A (p.Arg1655Lys) c.1288G>A c.1475G>A (p.Arg492Lys) c.*4684G>A (n.*4684G>A) n.54G>A c.1214G>A (p.Arg405Lys) c.5-7062G>A (n.5-7062G>A) c.374G>A (p.Arg125Lys) c.-98-20823G>A (n.-98-20823G>A) n.5037G>A n.5078G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43071014T>A | CA10591724 | BRCA1 | c.4897A>T (p.Arg1633Trp) c.4900A>T (p.Arg1634Trp) c.4774A>T (p.Arg1592Trp) c.4894A>T (p.Arg1632Trp) c.4822A>T (p.Arg1608Trp) c.1588A>T (p.Arg530Trp) c.1450A>T (p.Arg484Trp) c.4012A>T (p.Arg1338Trp) c.4777A>T (p.Arg1593Trp) c.4966A>T (p.Arg1656Trp) c.4759A>T (p.Arg1587Trp) c.1462A>T (p.Arg488Trp) c.1507A>T (p.Arg503Trp) c.4963A>T (p.Arg1655Trp) c.1287A>T c.1474A>T (p.Arg492Trp) c.*4683A>T (n.*4683A>T) n.53A>T c.1213A>T (p.Arg405Trp) c.5-7063A>T (n.5-7063A>T) c.373A>T (p.Arg125Trp) c.-98-20824A>T (n.-98-20824A>T) n.5036A>T n.5077A>T | dbSNP |
17 | g.43071014T>C | CA10591725 | BRCA1 | c.4897A>G (p.Arg1633Gly) c.4900A>G (p.Arg1634Gly) c.4774A>G (p.Arg1592Gly) c.4894A>G (p.Arg1632Gly) c.4822A>G (p.Arg1608Gly) c.1588A>G (p.Arg530Gly) c.1450A>G (p.Arg484Gly) c.4012A>G (p.Arg1338Gly) c.4777A>G (p.Arg1593Gly) c.4966A>G (p.Arg1656Gly) c.4759A>G (p.Arg1587Gly) c.1462A>G (p.Arg488Gly) c.1507A>G (p.Arg503Gly) c.4963A>G (p.Arg1655Gly) c.1287A>G c.1474A>G (p.Arg492Gly) c.*4683A>G (n.*4683A>G) n.53A>G c.1213A>G (p.Arg405Gly) c.5-7063A>G (n.5-7063A>G) c.373A>G (p.Arg125Gly) c.-98-20824A>G (n.-98-20824A>G) n.5036A>G n.5077A>G | ClinVar dbSNP |
17 | g.43071014T>G | CA500231709 | BRCA1 | c.4897A>C (p.Arg1633=) c.4900A>C (p.Arg1634=) c.4774A>C (p.Arg1592=) c.4894A>C (p.Arg1632=) c.4822A>C (p.Arg1608=) c.1588A>C (p.Arg530=) c.1450A>C (p.Arg484=) c.4012A>C (p.Arg1338=) c.4777A>C (p.Arg1593=) c.4966A>C (p.Arg1656=) c.4759A>C (p.Arg1587=) c.1462A>C (p.Arg488=) c.1507A>C (p.Arg503=) c.4963A>C (p.Arg1655=) c.1287A>C c.1474A>C (p.Arg492=) c.*4683A>C (n.*4683A>C) n.53A>C c.1213A>C (p.Arg405=) c.5-7063A>C (n.5-7063A>C) c.373A>C (p.Arg125=) c.-98-20824A>C (n.-98-20824A>C) n.5036A>C n.5077A>C | ClinVar dbSNP |
17 | g.43071014T= | CA2260772836 | BRCA1 | c.4897A= (p.Arg1633=) c.4900A= (p.Arg1634=) c.4774A= (p.Arg1592=) c.4894A= (p.Arg1632=) c.4822A= (p.Arg1608=) c.1588A= (p.Arg530=) c.1450A= (p.Arg484=) c.4012A= (p.Arg1338=) c.4777A= (p.Arg1593=) c.4966A= (p.Arg1656=) c.4759A= (p.Arg1587=) c.1462A= (p.Arg488=) c.1507A= (p.Arg503=) c.4963A= (p.Arg1655=) c.1287A= c.1474A= (p.Arg492=) c.*4683A= (n.*4683A=) n.53A= c.1213A= (p.Arg405=) c.5-7063A= (n.5-7063A=) c.373A= (p.Arg125=) c.-98-20824A= (n.-98-20824A=) n.5036A= n.5077A= | |
17 | g.43071015G>A | CA500231712 | BRCA1 | c.4896C>T (p.Ser1632=) c.4899C>T (p.Ser1633=) c.4773C>T (p.Ser1591=) c.4893C>T (p.Ser1631=) c.4821C>T (p.Ser1607=) c.1587C>T (p.Ser529=) c.1449C>T (p.Ser483=) c.4011C>T (p.Ser1337=) c.4776C>T (p.Ser1592=) c.4965C>T (p.Ser1655=) c.4758C>T (p.Ser1586=) c.1461C>T (p.Ser487=) c.1506C>T (p.Ser502=) c.4962C>T (p.Ser1654=) c.1286C>T c.1473C>T (p.Ser491=) c.*4682C>T (n.*4682C>T) n.52C>T c.1212C>T (p.Ser404=) c.5-7064C>T (n.5-7064C>T) c.372C>T (p.Ser124=) c.-98-20825C>T (n.-98-20825C>T) n.5035C>T n.5076C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43071015G>C | CA10591726 | BRCA1 | c.4896C>G (p.Ser1632Arg) c.4899C>G (p.Ser1633Arg) c.4773C>G (p.Ser1591Arg) c.4893C>G (p.Ser1631Arg) c.4821C>G (p.Ser1607Arg) c.1587C>G (p.Ser529Arg) c.1449C>G (p.Ser483Arg) c.4011C>G (p.Ser1337Arg) c.4776C>G (p.Ser1592Arg) c.4965C>G (p.Ser1655Arg) c.4758C>G (p.Ser1586Arg) c.1461C>G (p.Ser487Arg) c.1506C>G (p.Ser502Arg) c.4962C>G (p.Ser1654Arg) c.1286C>G c.1473C>G (p.Ser491Arg) c.*4682C>G (n.*4682C>G) n.52C>G c.1212C>G (p.Ser404Arg) c.5-7064C>G (n.5-7064C>G) c.372C>G (p.Ser124Arg) c.-98-20825C>G (n.-98-20825C>G) n.5035C>G n.5076C>G | ClinVar dbSNP |
17 | g.43071015G= | CA2260772837 | BRCA1 | c.4896C= (p.Ser1632=) c.4899C= (p.Ser1633=) c.4773C= (p.Ser1591=) c.4893C= (p.Ser1631=) c.4821C= (p.Ser1607=) c.1587C= (p.Ser529=) c.1449C= (p.Ser483=) c.4011C= (p.Ser1337=) c.4776C= (p.Ser1592=) c.4965C= (p.Ser1655=) c.4758C= (p.Ser1586=) c.1461C= (p.Ser487=) c.1506C= (p.Ser502=) c.4962C= (p.Ser1654=) c.1286C= c.1473C= (p.Ser491=) c.*4682C= (n.*4682C=) n.52C= c.1212C= (p.Ser404=) c.5-7064C= (n.5-7064C=) c.372C= (p.Ser124=) c.-98-20825C= (n.-98-20825C=) n.5035C= n.5076C= | |
17 | g.43071015G>T | CA10591727 | BRCA1 | c.4896C>A (p.Ser1632Arg) c.4899C>A (p.Ser1633Arg) c.4773C>A (p.Ser1591Arg) c.4893C>A (p.Ser1631Arg) c.4821C>A (p.Ser1607Arg) c.1587C>A (p.Ser529Arg) c.1449C>A (p.Ser483Arg) c.4011C>A (p.Ser1337Arg) c.4776C>A (p.Ser1592Arg) c.4965C>A (p.Ser1655Arg) c.4758C>A (p.Ser1586Arg) c.1461C>A (p.Ser487Arg) c.1506C>A (p.Ser502Arg) c.4962C>A (p.Ser1654Arg) c.1286C>A c.1473C>A (p.Ser491Arg) c.*4682C>A (n.*4682C>A) n.52C>A c.1212C>A (p.Ser404Arg) c.5-7064C>A (n.5-7064C>A) c.372C>A (p.Ser124Arg) c.-98-20825C>A (n.-98-20825C>A) n.5035C>A n.5076C>A | ClinVar dbSNP |
17 | g.43071015dup | CA2695225904 | BRCA1 | c.4896dup (p.Arg1633GlnfsTer?) c.4899dup (p.Arg1634GlnfsTer?) c.4773dup (p.Arg1592GlnfsTer?) c.4893dup (p.Arg1632GlnfsTer?) c.4821dup (p.Arg1608GlnfsTer?) c.1587dup (p.Arg530GlnfsTer?) c.1449dup (p.Arg484GlnfsTer?) c.4011dup (p.Arg1338GlnfsTer?) c.4776dup (p.Arg1593GlnfsTer?) c.4965dup (p.Arg1656GlnfsTer?) c.4758dup (p.Arg1587GlnfsTer?) c.1461dup (p.Arg488GlnfsTer?) c.1506dup (p.Arg503GlnfsTer?) c.4962dup (p.Arg1655GlnfsTer?) c.1286dup c.1473dup (p.Arg492GlnfsTer?) c.*4682dup (n.*4682dup) n.52dup c.1212dup (p.Arg405GlnfsTer?) c.5-7064dup (n.5-7064dup) c.372dup (p.Arg125GlnfsTer?) c.-98-20825dup (n.-98-20825dup) n.5035dup n.5076dup | |
17 | g.43071016C>A | CA10591728 | BRCA1 | c.4895G>T (p.Ser1632Ile) c.4898G>T (p.Ser1633Ile) c.4772G>T (p.Ser1591Ile) c.4892G>T (p.Ser1631Ile) c.4820G>T (p.Ser1607Ile) c.1586G>T (p.Ser529Ile) c.1448G>T (p.Ser483Ile) c.4010G>T (p.Ser1337Ile) c.4775G>T (p.Ser1592Ile) c.4964G>T (p.Ser1655Ile) c.4757G>T (p.Ser1586Ile) c.1460G>T (p.Ser487Ile) c.1505G>T (p.Ser502Ile) c.4961G>T (p.Ser1654Ile) c.1285G>T c.1472G>T (p.Ser491Ile) c.*4681G>T (n.*4681G>T) n.51G>T c.1211G>T (p.Ser404Ile) c.5-7065G>T (n.5-7065G>T) c.371G>T (p.Ser124Ile) c.-98-20826G>T (n.-98-20826G>T) n.5034G>T n.5075G>T | ClinVar dbSNP |
17 | g.43071016C= | CA2260772838 | BRCA1 | c.4895G= (p.Ser1632=) c.4898G= (p.Ser1633=) c.4772G= (p.Ser1591=) c.4892G= (p.Ser1631=) c.4820G= (p.Ser1607=) c.1586G= (p.Ser529=) c.1448G= (p.Ser483=) c.4010G= (p.Ser1337=) c.4775G= (p.Ser1592=) c.4964G= (p.Ser1655=) c.4757G= (p.Ser1586=) c.1460G= (p.Ser487=) c.1505G= (p.Ser502=) c.4961G= (p.Ser1654=) c.1285G= c.1472G= (p.Ser491=) c.*4681G= (n.*4681G=) n.51G= c.1211G= (p.Ser404=) c.5-7065G= (n.5-7065G=) c.371G= (p.Ser124=) c.-98-20826G= (n.-98-20826G=) n.5034G= n.5075G= | |
17 | g.43071016C>G | CA10591729 | BRCA1 | c.4895G>C (p.Ser1632Thr) c.4898G>C (p.Ser1633Thr) c.4772G>C (p.Ser1591Thr) c.4892G>C (p.Ser1631Thr) c.4820G>C (p.Ser1607Thr) c.1586G>C (p.Ser529Thr) c.1448G>C (p.Ser483Thr) c.4010G>C (p.Ser1337Thr) c.4775G>C (p.Ser1592Thr) c.4964G>C (p.Ser1655Thr) c.4757G>C (p.Ser1586Thr) c.1460G>C (p.Ser487Thr) c.1505G>C (p.Ser502Thr) c.4961G>C (p.Ser1654Thr) c.1285G>C c.1472G>C (p.Ser491Thr) c.*4681G>C (n.*4681G>C) n.51G>C c.1211G>C (p.Ser404Thr) c.5-7065G>C (n.5-7065G>C) c.371G>C (p.Ser124Thr) c.-98-20826G>C (n.-98-20826G>C) n.5034G>C n.5075G>C | ClinVar dbSNP |
17 | g.43071016C>T | CA10591730 | BRCA1 | c.4895G>A (p.Ser1632Asn) c.4898G>A (p.Ser1633Asn) c.4772G>A (p.Ser1591Asn) c.4892G>A (p.Ser1631Asn) c.4820G>A (p.Ser1607Asn) c.1586G>A (p.Ser529Asn) c.1448G>A (p.Ser483Asn) c.4010G>A (p.Ser1337Asn) c.4775G>A (p.Ser1592Asn) c.4964G>A (p.Ser1655Asn) c.4757G>A (p.Ser1586Asn) c.1460G>A (p.Ser487Asn) c.1505G>A (p.Ser502Asn) c.4961G>A (p.Ser1654Asn) c.1285G>A c.1472G>A (p.Ser491Asn) c.*4681G>A (n.*4681G>A) n.51G>A c.1211G>A (p.Ser404Asn) c.5-7065G>A (n.5-7065G>A) c.371G>A (p.Ser124Asn) c.-98-20826G>A (n.-98-20826G>A) n.5034G>A n.5075G>A | ClinVar dbSNP |
17 | g.43071017T>A | CA10591731 | BRCA1 | c.4894A>T (p.Ser1632Cys) c.4897A>T (p.Ser1633Cys) c.4771A>T (p.Ser1591Cys) c.4891A>T (p.Ser1631Cys) c.4819A>T (p.Ser1607Cys) c.1585A>T (p.Ser529Cys) c.1447A>T (p.Ser483Cys) c.4009A>T (p.Ser1337Cys) c.4774A>T (p.Ser1592Cys) c.4963A>T (p.Ser1655Cys) c.4756A>T (p.Ser1586Cys) c.1459A>T (p.Ser487Cys) c.1504A>T (p.Ser502Cys) c.4960A>T (p.Ser1654Cys) c.1284A>T c.1471A>T (p.Ser491Cys) c.*4680A>T (n.*4680A>T) n.50A>T c.1210A>T (p.Ser404Cys) c.5-7066A>T (n.5-7066A>T) c.370A>T (p.Ser124Cys) c.-98-20827A>T (n.-98-20827A>T) n.5033A>T n.5074A>T | ClinVar dbSNP |
17 | g.43071017T>C | CA10591732 | BRCA1 | c.4894A>G (p.Ser1632Gly) c.4897A>G (p.Ser1633Gly) c.4771A>G (p.Ser1591Gly) c.4891A>G (p.Ser1631Gly) c.4819A>G (p.Ser1607Gly) c.1585A>G (p.Ser529Gly) c.1447A>G (p.Ser483Gly) c.4009A>G (p.Ser1337Gly) c.4774A>G (p.Ser1592Gly) c.4963A>G (p.Ser1655Gly) c.4756A>G (p.Ser1586Gly) c.1459A>G (p.Ser487Gly) c.1504A>G (p.Ser502Gly) c.4960A>G (p.Ser1654Gly) c.1284A>G c.1471A>G (p.Ser491Gly) c.*4680A>G (n.*4680A>G) n.50A>G c.1210A>G (p.Ser404Gly) c.5-7066A>G (n.5-7066A>G) c.370A>G (p.Ser124Gly) c.-98-20827A>G (n.-98-20827A>G) n.5033A>G n.5074A>G | ClinVar dbSNP |
17 | g.43071017T>G | CA10591733 | BRCA1 | c.4894A>C (p.Ser1632Arg) c.4897A>C (p.Ser1633Arg) c.4771A>C (p.Ser1591Arg) c.4891A>C (p.Ser1631Arg) c.4819A>C (p.Ser1607Arg) c.1585A>C (p.Ser529Arg) c.1447A>C (p.Ser483Arg) c.4009A>C (p.Ser1337Arg) c.4774A>C (p.Ser1592Arg) c.4963A>C (p.Ser1655Arg) c.4756A>C (p.Ser1586Arg) c.1459A>C (p.Ser487Arg) c.1504A>C (p.Ser502Arg) c.4960A>C (p.Ser1654Arg) c.1284A>C c.1471A>C (p.Ser491Arg) c.*4680A>C (n.*4680A>C) n.50A>C c.1210A>C (p.Ser404Arg) c.5-7066A>C (n.5-7066A>C) c.370A>C (p.Ser124Arg) c.-98-20827A>C (n.-98-20827A>C) n.5033A>C n.5074A>C | ClinVar dbSNP |
17 | g.43071017T= | CA2260772840 | BRCA1 | c.4894A= (p.Ser1632=) c.4897A= (p.Ser1633=) c.4771A= (p.Ser1591=) c.4891A= (p.Ser1631=) c.4819A= (p.Ser1607=) c.1585A= (p.Ser529=) c.1447A= (p.Ser483=) c.4009A= (p.Ser1337=) c.4774A= (p.Ser1592=) c.4963A= (p.Ser1655=) c.4756A= (p.Ser1586=) c.1459A= (p.Ser487=) c.1504A= (p.Ser502=) c.4960A= (p.Ser1654=) c.1284A= c.1471A= (p.Ser491=) c.*4680A= (n.*4680A=) n.50A= c.1210A= (p.Ser404=) c.5-7066A= (n.5-7066A=) c.370A= (p.Ser124=) c.-98-20827A= (n.-98-20827A=) n.5033A= n.5074A= | |
17 | g.43071017_43071019delinsTCA | CA2260772839 | BRCA1 | c.4892_4894delinsTGA (p.Val1631=) c.4895_4897delinsTGA (p.Val1632=) c.4769_4771delinsTGA (p.Val1590=) c.4889_4891delinsTGA (p.Val1630=) c.4817_4819delinsTGA (p.Val1606=) c.1583_1585delinsTGA (p.Val528=) c.1445_1447delinsTGA (p.Val482=) c.4007_4009delinsTGA (p.Val1336=) c.4772_4774delinsTGA (p.Val1591=) c.4961_4963delinsTGA (p.Val1654=) c.4754_4756delinsTGA (p.Val1585=) c.1457_1459delinsTGA (p.Val486=) c.1502_1504delinsTGA (p.Val501=) c.4958_4960delinsTGA (p.Val1653=) c.1282_1284delinsTGA c.1469_1471delinsTGA (p.Val490=) c.*4678_*4680delinsTGA (n.*4678_*4680delinsTGA) n.48_50delinsTGA c.1208_1210delinsTGA (p.Val403=) c.5-7068_5-7066delinsTGA (n.5-7068_5-7066delinsTGA) c.368_370delinsTGA (p.Val123=) c.-98-20829_-98-20827delinsTGA (n.-98-20829_-98-20827delinsTGA) n.5031_5033delinsTGA n.5072_5074delinsTGA | |
17 | g.43071018del | CA2695225905 | BRCA1 | c.4893del (p.Ser1632AlafsTer7) c.4896del (p.Ser1633AlafsTer7) c.4770del (p.Ser1591AlafsTer7) c.4890del (p.Ser1631AlafsTer7) c.4818del (p.Ser1607AlafsTer7) c.1584del (p.Ser529AlafsTer7) c.1446del (p.Ser483AlafsTer7) c.4008del (p.Ser1337AlafsTer7) c.4773del (p.Ser1592AlafsTer7) c.4962del (p.Ser1655AlafsTer7) c.4755del (p.Ser1586AlafsTer7) c.1458del (p.Ser487AlafsTer7) c.1503del (p.Ser502AlafsTer7) c.4959del (p.Ser1654AlafsTer7) c.1283del c.1470del (p.Ser491AlafsTer7) c.*4679del (n.*4679del) n.49del c.1209del (p.Ser404AlafsTer7) c.5-7067del (n.5-7067del) c.369del (p.Ser124AlafsTer7) c.-98-20828del (n.-98-20828del) n.5032del n.5073del | |
17 | g.43071018C>A | CA500231715 | BRCA1 | c.4893G>T (p.Val1631=) c.4896G>T (p.Val1632=) c.4770G>T (p.Val1590=) c.4890G>T (p.Val1630=) c.4818G>T (p.Val1606=) c.1584G>T (p.Val528=) c.1446G>T (p.Val482=) c.4008G>T (p.Val1336=) c.4773G>T (p.Val1591=) c.4962G>T (p.Val1654=) c.4755G>T (p.Val1585=) c.1458G>T (p.Val486=) c.1503G>T (p.Val501=) c.4959G>T (p.Val1653=) c.1283G>T c.1470G>T (p.Val490=) c.*4679G>T (n.*4679G>T) n.49G>T c.1209G>T (p.Val403=) c.5-7067G>T (n.5-7067G>T) c.369G>T (p.Val123=) c.-98-20828G>T (n.-98-20828G>T) n.5032G>T n.5073G>T | ClinVar dbSNP |
17 | g.43071018C= | CA2260772841 | BRCA1 | c.4893G= (p.Val1631=) c.4896G= (p.Val1632=) c.4770G= (p.Val1590=) c.4890G= (p.Val1630=) c.4818G= (p.Val1606=) c.1584G= (p.Val528=) c.1446G= (p.Val482=) c.4008G= (p.Val1336=) c.4773G= (p.Val1591=) c.4962G= (p.Val1654=) c.4755G= (p.Val1585=) c.1458G= (p.Val486=) c.1503G= (p.Val501=) c.4959G= (p.Val1653=) c.1283G= c.1470G= (p.Val490=) c.*4679G= (n.*4679G=) n.49G= c.1209G= (p.Val403=) c.5-7067G= (n.5-7067G=) c.369G= (p.Val123=) c.-98-20828G= (n.-98-20828G=) n.5032G= n.5073G= | |
17 | g.43071018C>G | CA500231718 | BRCA1 | c.4893G>C (p.Val1631=) c.4896G>C (p.Val1632=) c.4770G>C (p.Val1590=) c.4890G>C (p.Val1630=) c.4818G>C (p.Val1606=) c.1584G>C (p.Val528=) c.1446G>C (p.Val482=) c.4008G>C (p.Val1336=) c.4773G>C (p.Val1591=) c.4962G>C (p.Val1654=) c.4755G>C (p.Val1585=) c.1458G>C (p.Val486=) c.1503G>C (p.Val501=) c.4959G>C (p.Val1653=) c.1283G>C c.1470G>C (p.Val490=) c.*4679G>C (n.*4679G>C) n.49G>C c.1209G>C (p.Val403=) c.5-7067G>C (n.5-7067G>C) c.369G>C (p.Val123=) c.-98-20828G>C (n.-98-20828G>C) n.5032G>C n.5073G>C | ClinVar dbSNP |
17 | g.43071018C>T | CA500231720 | BRCA1 | c.4893G>A (p.Val1631=) c.4896G>A (p.Val1632=) c.4770G>A (p.Val1590=) c.4890G>A (p.Val1630=) c.4818G>A (p.Val1606=) c.1584G>A (p.Val528=) c.1446G>A (p.Val482=) c.4008G>A (p.Val1336=) c.4773G>A (p.Val1591=) c.4962G>A (p.Val1654=) c.4755G>A (p.Val1585=) c.1458G>A (p.Val486=) c.1503G>A (p.Val501=) c.4959G>A (p.Val1653=) c.1283G>A c.1470G>A (p.Val490=) c.*4679G>A (n.*4679G>A) n.49G>A c.1209G>A (p.Val403=) c.5-7067G>A (n.5-7067G>A) c.369G>A (p.Val123=) c.-98-20828G>A (n.-98-20828G>A) n.5032G>A n.5073G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43071021_43071022del | CA10586606 | BRCA1 | c.4892_4893del (p.Val1631GlufsTer?) c.4895_4896del (p.Val1632GlufsTer?) c.4769_4770del (p.Val1590GlufsTer?) c.4889_4890del (p.Val1630GlufsTer?) c.4817_4818del (p.Val1606GlufsTer?) c.1583_1584del (p.Val528GlufsTer?) c.1445_1446del (p.Val482GlufsTer?) c.4007_4008del (p.Val1336GlufsTer?) c.4772_4773del (p.Val1591GlufsTer?) c.4961_4962del (p.Val1654GlufsTer?) c.4754_4755del (p.Val1585GlufsTer?) c.1457_1458del (p.Val486GlufsTer?) c.1502_1503del (p.Val501GlufsTer?) c.4958_4959del (p.Val1653GlufsTer?) c.1282_1283del c.1469_1470del (p.Val490GlufsTer?) c.*4678_*4679del (n.*4678_*4679del) n.48_49del c.1208_1209del (p.Val403GlufsTer?) c.5-7068_5-7067del (n.5-7068_5-7067del) c.368_369del (p.Val123GlufsTer?) c.-98-20829_-98-20828del (n.-98-20829_-98-20828del) n.5031_5032del n.5072_5073del | ClinVar dbSNP |
17 | g.43071019A= | CA2260772842 | BRCA1 | c.4892T= (p.Val1631=) c.4895T= (p.Val1632=) c.4769T= (p.Val1590=) c.4889T= (p.Val1630=) c.4817T= (p.Val1606=) c.1583T= (p.Val528=) c.1445T= (p.Val482=) c.4007T= (p.Val1336=) c.4772T= (p.Val1591=) c.4961T= (p.Val1654=) c.4754T= (p.Val1585=) c.1457T= (p.Val486=) c.1502T= (p.Val501=) c.4958T= (p.Val1653=) c.1282T= c.1469T= (p.Val490=) c.*4678T= (n.*4678T=) n.48T= c.1208T= (p.Val403=) c.5-7068T= (n.5-7068T=) c.368T= (p.Val123=) c.-98-20829T= (n.-98-20829T=) n.5031T= n.5072T= | |
17 | g.43071019A>C | CA10591734 | BRCA1 | c.4892T>G (p.Val1631Gly) c.4895T>G (p.Val1632Gly) c.4769T>G (p.Val1590Gly) c.4889T>G (p.Val1630Gly) c.4817T>G (p.Val1606Gly) c.1583T>G (p.Val528Gly) c.1445T>G (p.Val482Gly) c.4007T>G (p.Val1336Gly) c.4772T>G (p.Val1591Gly) c.4961T>G (p.Val1654Gly) c.4754T>G (p.Val1585Gly) c.1457T>G (p.Val486Gly) c.1502T>G (p.Val501Gly) c.4958T>G (p.Val1653Gly) c.1282T>G c.1469T>G (p.Val490Gly) c.*4678T>G (n.*4678T>G) n.48T>G c.1208T>G (p.Val403Gly) c.5-7068T>G (n.5-7068T>G) c.368T>G (p.Val123Gly) c.-98-20829T>G (n.-98-20829T>G) n.5031T>G n.5072T>G | ClinVar dbSNP |
17 | g.43071019A>G | CA10591735 | BRCA1 | c.4892T>C (p.Val1631Ala) c.4895T>C (p.Val1632Ala) c.4769T>C (p.Val1590Ala) c.4889T>C (p.Val1630Ala) c.4817T>C (p.Val1606Ala) c.1583T>C (p.Val528Ala) c.1445T>C (p.Val482Ala) c.4007T>C (p.Val1336Ala) c.4772T>C (p.Val1591Ala) c.4961T>C (p.Val1654Ala) c.4754T>C (p.Val1585Ala) c.1457T>C (p.Val486Ala) c.1502T>C (p.Val501Ala) c.4958T>C (p.Val1653Ala) c.1282T>C c.1469T>C (p.Val490Ala) c.*4678T>C (n.*4678T>C) n.48T>C c.1208T>C (p.Val403Ala) c.5-7068T>C (n.5-7068T>C) c.368T>C (p.Val123Ala) c.-98-20829T>C (n.-98-20829T>C) n.5031T>C n.5072T>C | ClinVar dbSNP |
17 | g.43071019A>T | CA10591736 | BRCA1 | c.4892T>A (p.Val1631Glu) c.4895T>A (p.Val1632Glu) c.4769T>A (p.Val1590Glu) c.4889T>A (p.Val1630Glu) c.4817T>A (p.Val1606Glu) c.1583T>A (p.Val528Glu) c.1445T>A (p.Val482Glu) c.4007T>A (p.Val1336Glu) c.4772T>A (p.Val1591Glu) c.4961T>A (p.Val1654Glu) c.4754T>A (p.Val1585Glu) c.1457T>A (p.Val486Glu) c.1502T>A (p.Val501Glu) c.4958T>A (p.Val1653Glu) c.1282T>A c.1469T>A (p.Val490Glu) c.*4678T>A (n.*4678T>A) n.48T>A c.1208T>A (p.Val403Glu) c.5-7068T>A (n.5-7068T>A) c.368T>A (p.Val123Glu) c.-98-20829T>A (n.-98-20829T>A) n.5031T>A n.5072T>A | ClinVar dbSNP |
17 | g.43071020C>A | CA003070 | BRCA1 | c.4891G>T (p.Val1631Leu) c.4894G>T (p.Val1632Leu) c.4768G>T (p.Val1590Leu) c.4888G>T (p.Val1630Leu) c.4816G>T (p.Val1606Leu) c.1582G>T (p.Val528Leu) c.1444G>T (p.Val482Leu) c.4006G>T (p.Val1336Leu) c.4771G>T (p.Val1591Leu) c.4960G>T (p.Val1654Leu) c.4753G>T (p.Val1585Leu) c.1456G>T (p.Val486Leu) c.1501G>T (p.Val501Leu) c.4957G>T (p.Val1653Leu) c.1281G>T c.1468G>T (p.Val490Leu) c.*4677G>T (n.*4677G>T) n.47G>T c.1207G>T (p.Val403Leu) c.5-7069G>T (n.5-7069G>T) c.367G>T (p.Val123Leu) c.-98-20830G>T (n.-98-20830G>T) n.5030G>T n.5071G>T | ClinVar dbSNP |
17 | g.43071020C= | CA2260772843 | BRCA1 | c.4891G= (p.Val1631=) c.4894G= (p.Val1632=) c.4768G= (p.Val1590=) c.4888G= (p.Val1630=) c.4816G= (p.Val1606=) c.1582G= (p.Val528=) c.1444G= (p.Val482=) c.4006G= (p.Val1336=) c.4771G= (p.Val1591=) c.4960G= (p.Val1654=) c.4753G= (p.Val1585=) c.1456G= (p.Val486=) c.1501G= (p.Val501=) c.4957G= (p.Val1653=) c.1281G= c.1468G= (p.Val490=) c.*4677G= (n.*4677G=) n.47G= c.1207G= (p.Val403=) c.5-7069G= (n.5-7069G=) c.367G= (p.Val123=) c.-98-20830G= (n.-98-20830G=) n.5030G= n.5071G= | |
17 | g.43071020C>G | CA10591737 | BRCA1 | c.4891G>C (p.Val1631Leu) c.4894G>C (p.Val1632Leu) c.4768G>C (p.Val1590Leu) c.4888G>C (p.Val1630Leu) c.4816G>C (p.Val1606Leu) c.1582G>C (p.Val528Leu) c.1444G>C (p.Val482Leu) c.4006G>C (p.Val1336Leu) c.4771G>C (p.Val1591Leu) c.4960G>C (p.Val1654Leu) c.4753G>C (p.Val1585Leu) c.1456G>C (p.Val486Leu) c.1501G>C (p.Val501Leu) c.4957G>C (p.Val1653Leu) c.1281G>C c.1468G>C (p.Val490Leu) c.*4677G>C (n.*4677G>C) n.47G>C c.1207G>C (p.Val403Leu) c.5-7069G>C (n.5-7069G>C) c.367G>C (p.Val123Leu) c.-98-20830G>C (n.-98-20830G>C) n.5030G>C n.5071G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43071020C>T | CA053429 | BRCA1 | c.4891G>A (p.Val1631Met) c.4894G>A (p.Val1632Met) c.4768G>A (p.Val1590Met) c.4888G>A (p.Val1630Met) c.4816G>A (p.Val1606Met) c.1582G>A (p.Val528Met) c.1444G>A (p.Val482Met) c.4006G>A (p.Val1336Met) c.4771G>A (p.Val1591Met) c.4960G>A (p.Val1654Met) c.4753G>A (p.Val1585Met) c.1456G>A (p.Val486Met) c.1501G>A (p.Val501Met) c.4957G>A (p.Val1653Met) c.1281G>A c.1468G>A (p.Val490Met) c.*4677G>A (n.*4677G>A) n.47G>A c.1207G>A (p.Val403Met) c.5-7069G>A (n.5-7069G>A) c.367G>A (p.Val123Met) c.-98-20830G>A (n.-98-20830G>A) n.5030G>A n.5071G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071020_43071027delinsCACTTTCT | CA2260772844 | BRCA1 | c.4884_4891delinsAGAAAGTG (p.Glu1628=) c.4887_4894delinsAGAAAGTG (p.Glu1629=) c.4761_4768delinsAGAAAGTG (p.Glu1587=) c.4881_4888delinsAGAAAGTG (p.Glu1627=) c.4809_4816delinsAGAAAGTG (p.Glu1603=) c.1575_1582delinsAGAAAGTG (p.Glu525=) c.1437_1444delinsAGAAAGTG (p.Glu479=) c.3999_4006delinsAGAAAGTG (p.Glu1333=) c.4764_4771delinsAGAAAGTG (p.Glu1588=) c.4953_4960delinsAGAAAGTG (p.Glu1651=) c.4746_4753delinsAGAAAGTG (p.Glu1582=) c.1449_1456delinsAGAAAGTG (p.Glu483=) c.1494_1501delinsAGAAAGTG (p.Glu498=) c.4950_4957delinsAGAAAGTG (p.Glu1650=) c.1274_1281delinsAGAAAGTG c.1461_1468delinsAGAAAGTG (p.Glu487=) c.*4670_*4677delinsAGAAAGTG (n.*4670_*4677delinsAGAAAGTG) n.40_47delinsAGAAAGTG c.1200_1207delinsAGAAAGTG (p.Glu400=) c.5-7076_5-7069delinsAGAAAGTG (n.5-7076_5-7069delinsAGAAAGTG) c.360_367delinsAGAAAGTG (p.Glu120=) c.-98-20837_-98-20830delinsAGAAAGTG (n.-98-20837_-98-20830delinsAGAAAGTG) n.5023_5030delinsAGAAAGTG n.5064_5071delinsAGAAAGTG | |
17 | g.43071021A= | CA2260772845 | BRCA1 | c.4890T= (p.Ser1630=) c.4893T= (p.Ser1631=) c.4767T= (p.Ser1589=) c.4887T= (p.Ser1629=) c.4815T= (p.Ser1605=) c.1581T= (p.Ser527=) c.1443T= (p.Ser481=) c.4005T= (p.Ser1335=) c.4770T= (p.Ser1590=) c.4959T= (p.Ser1653=) c.4752T= (p.Ser1584=) c.1455T= (p.Ser485=) c.1500T= (p.Ser500=) c.4956T= (p.Ser1652=) c.1280T= c.1467T= (p.Ser489=) c.*4676T= (n.*4676T=) n.46T= c.1206T= (p.Ser402=) c.5-7070T= (n.5-7070T=) c.366T= (p.Ser122=) c.-98-20831T= (n.-98-20831T=) n.5029T= n.5070T= | |
17 | g.43071021A>C | CA10591738 | BRCA1 | c.4890T>G (p.Ser1630Arg) c.4893T>G (p.Ser1631Arg) c.4767T>G (p.Ser1589Arg) c.4887T>G (p.Ser1629Arg) c.4815T>G (p.Ser1605Arg) c.1581T>G (p.Ser527Arg) c.1443T>G (p.Ser481Arg) c.4005T>G (p.Ser1335Arg) c.4770T>G (p.Ser1590Arg) c.4959T>G (p.Ser1653Arg) c.4752T>G (p.Ser1584Arg) c.1455T>G (p.Ser485Arg) c.1500T>G (p.Ser500Arg) c.4956T>G (p.Ser1652Arg) c.1280T>G c.1467T>G (p.Ser489Arg) c.*4676T>G (n.*4676T>G) n.46T>G c.1206T>G (p.Ser402Arg) c.5-7070T>G (n.5-7070T>G) c.366T>G (p.Ser122Arg) c.-98-20831T>G (n.-98-20831T>G) n.5029T>G n.5070T>G | ClinVar dbSNP |
17 | g.43071021A>G | CA003068 | BRCA1 | c.4890T>C (p.Ser1630=) c.4893T>C (p.Ser1631=) c.4767T>C (p.Ser1589=) c.4887T>C (p.Ser1629=) c.4815T>C (p.Ser1605=) c.1581T>C (p.Ser527=) c.1443T>C (p.Ser481=) c.4005T>C (p.Ser1335=) c.4770T>C (p.Ser1590=) c.4959T>C (p.Ser1653=) c.4752T>C (p.Ser1584=) c.1455T>C (p.Ser485=) c.1500T>C (p.Ser500=) c.4956T>C (p.Ser1652=) c.1280T>C c.1467T>C (p.Ser489=) c.*4676T>C (n.*4676T>C) n.46T>C c.1206T>C (p.Ser402=) c.5-7070T>C (n.5-7070T>C) c.366T>C (p.Ser122=) c.-98-20831T>C (n.-98-20831T>C) n.5029T>C n.5070T>C | ClinVar dbSNP |
17 | g.43071021A>T | CA10591739 | BRCA1 | c.4890T>A (p.Ser1630Arg) c.4893T>A (p.Ser1631Arg) c.4767T>A (p.Ser1589Arg) c.4887T>A (p.Ser1629Arg) c.4815T>A (p.Ser1605Arg) c.1581T>A (p.Ser527Arg) c.1443T>A (p.Ser481Arg) c.4005T>A (p.Ser1335Arg) c.4770T>A (p.Ser1590Arg) c.4959T>A (p.Ser1653Arg) c.4752T>A (p.Ser1584Arg) c.1455T>A (p.Ser485Arg) c.1500T>A (p.Ser500Arg) c.4956T>A (p.Ser1652Arg) c.1280T>A c.1467T>A (p.Ser489Arg) c.*4676T>A (n.*4676T>A) n.46T>A c.1206T>A (p.Ser402Arg) c.5-7070T>A (n.5-7070T>A) c.366T>A (p.Ser122Arg) c.-98-20831T>A (n.-98-20831T>A) n.5029T>A n.5070T>A | ClinVar dbSNP |
17 | g.43071021_43071027del | CA10589637 | BRCA1 | c.4884_4890del (p.Glu1629Ter) c.4887_4893del (p.Glu1630Ter) c.4761_4767del (p.Glu1588Ter) c.4881_4887del (p.Glu1628Ter) c.4809_4815del (p.Glu1604Ter) c.1575_1581del (p.Glu526Ter) c.1437_1443del (p.Glu480Ter) c.3999_4005del (p.Glu1334Ter) c.4764_4770del (p.Glu1589Ter) c.4953_4959del (p.Glu1652Ter) c.4746_4752del (p.Glu1583Ter) c.1449_1455del (p.Glu484Ter) c.1494_1500del (p.Glu499Ter) c.4950_4956del (p.Glu1651Ter) c.1274_1280del c.1461_1467del (p.Glu488Ter) c.*4670_*4676del (n.*4670_*4676del) n.40_46del c.1200_1206del (p.Glu401Ter) c.5-7076_5-7070del (n.5-7076_5-7070del) c.360_366del (p.Glu121Ter) c.-98-20837_-98-20831del (n.-98-20837_-98-20831del) n.5023_5029del n.5064_5070del | ClinVar dbSNP |
17 | g.43071022C>A | CA10591740 | BRCA1 | c.4889G>T (p.Ser1630Ile) c.4892G>T (p.Ser1631Ile) c.4766G>T (p.Ser1589Ile) c.4886G>T (p.Ser1629Ile) c.4814G>T (p.Ser1605Ile) c.1580G>T (p.Ser527Ile) c.1442G>T (p.Ser481Ile) c.4004G>T (p.Ser1335Ile) c.4769G>T (p.Ser1590Ile) c.4958G>T (p.Ser1653Ile) c.4751G>T (p.Ser1584Ile) c.1454G>T (p.Ser485Ile) c.1499G>T (p.Ser500Ile) c.4955G>T (p.Ser1652Ile) c.1279G>T c.1466G>T (p.Ser489Ile) c.*4675G>T (n.*4675G>T) n.45G>T c.1205G>T (p.Ser402Ile) c.5-7071G>T (n.5-7071G>T) c.365G>T (p.Ser122Ile) c.-98-20832G>T (n.-98-20832G>T) n.5028G>T n.5069G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43071022C= | CA2260772846 | BRCA1 | c.4889G= (p.Ser1630=) c.4892G= (p.Ser1631=) c.4766G= (p.Ser1589=) c.4886G= (p.Ser1629=) c.4814G= (p.Ser1605=) c.1580G= (p.Ser527=) c.1442G= (p.Ser481=) c.4004G= (p.Ser1335=) c.4769G= (p.Ser1590=) c.4958G= (p.Ser1653=) c.4751G= (p.Ser1584=) c.1454G= (p.Ser485=) c.1499G= (p.Ser500=) c.4955G= (p.Ser1652=) c.1279G= c.1466G= (p.Ser489=) c.*4675G= (n.*4675G=) n.45G= c.1205G= (p.Ser402=) c.5-7071G= (n.5-7071G=) c.365G= (p.Ser122=) c.-98-20832G= (n.-98-20832G=) n.5028G= n.5069G= | |
17 | g.43071022C>G | CA10591741 | BRCA1 | c.4889G>C (p.Ser1630Thr) c.4892G>C (p.Ser1631Thr) c.4766G>C (p.Ser1589Thr) c.4886G>C (p.Ser1629Thr) c.4814G>C (p.Ser1605Thr) c.1580G>C (p.Ser527Thr) c.1442G>C (p.Ser481Thr) c.4004G>C (p.Ser1335Thr) c.4769G>C (p.Ser1590Thr) c.4958G>C (p.Ser1653Thr) c.4751G>C (p.Ser1584Thr) c.1454G>C (p.Ser485Thr) c.1499G>C (p.Ser500Thr) c.4955G>C (p.Ser1652Thr) c.1279G>C c.1466G>C (p.Ser489Thr) c.*4675G>C (n.*4675G>C) n.45G>C c.1205G>C (p.Ser402Thr) c.5-7071G>C (n.5-7071G>C) c.365G>C (p.Ser122Thr) c.-98-20832G>C (n.-98-20832G>C) n.5028G>C n.5069G>C | ClinVar dbSNP |
17 | g.43071022C>T | CA003067 | BRCA1 | c.4889G>A (p.Ser1630Asn) c.4892G>A (p.Ser1631Asn) c.4766G>A (p.Ser1589Asn) c.4886G>A (p.Ser1629Asn) c.4814G>A (p.Ser1605Asn) c.1580G>A (p.Ser527Asn) c.1442G>A (p.Ser481Asn) c.4004G>A (p.Ser1335Asn) c.4769G>A (p.Ser1590Asn) c.4958G>A (p.Ser1653Asn) c.4751G>A (p.Ser1584Asn) c.1454G>A (p.Ser485Asn) c.1499G>A (p.Ser500Asn) c.4955G>A (p.Ser1652Asn) c.1279G>A c.1466G>A (p.Ser489Asn) c.*4675G>A (n.*4675G>A) n.45G>A c.1205G>A (p.Ser402Asn) c.5-7071G>A (n.5-7071G>A) c.365G>A (p.Ser122Asn) c.-98-20832G>A (n.-98-20832G>A) n.5028G>A n.5069G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43071022_43071023delinsCT | CA2260772847 | BRCA1 | c.4888_4889delinsAG (p.Ser1630=) c.4891_4892delinsAG (p.Ser1631=) c.4765_4766delinsAG (p.Ser1589=) c.4885_4886delinsAG (p.Ser1629=) c.4813_4814delinsAG (p.Ser1605=) c.1579_1580delinsAG (p.Ser527=) c.1441_1442delinsAG (p.Ser481=) c.4003_4004delinsAG (p.Ser1335=) c.4768_4769delinsAG (p.Ser1590=) c.4957_4958delinsAG (p.Ser1653=) c.4750_4751delinsAG (p.Ser1584=) c.1453_1454delinsAG (p.Ser485=) c.1498_1499delinsAG (p.Ser500=) c.4954_4955delinsAG (p.Ser1652=) c.1278_1279delinsAG c.1465_1466delinsAG (p.Ser489=) c.*4674_*4675delinsAG (n.*4674_*4675delinsAG) n.44_45delinsAG c.1204_1205delinsAG (p.Ser402=) c.5-7072_5-7071delinsAG (n.5-7072_5-7071delinsAG) c.364_365delinsAG (p.Ser122=) c.-98-20833_-98-20832delinsAG (n.-98-20833_-98-20832delinsAG) n.5027_5028delinsAG n.5068_5069delinsAG | |
17 | g.43071023T>A | CA003066 | BRCA1 | c.4888A>T (p.Ser1630Cys) c.4891A>T (p.Ser1631Cys) c.4765A>T (p.Ser1589Cys) c.4885A>T (p.Ser1629Cys) c.4813A>T (p.Ser1605Cys) c.1579A>T (p.Ser527Cys) c.1441A>T (p.Ser481Cys) c.4003A>T (p.Ser1335Cys) c.4768A>T (p.Ser1590Cys) c.4957A>T (p.Ser1653Cys) c.4750A>T (p.Ser1584Cys) c.1453A>T (p.Ser485Cys) c.1498A>T (p.Ser500Cys) c.4954A>T (p.Ser1652Cys) c.1278A>T c.1465A>T (p.Ser489Cys) c.*4674A>T (n.*4674A>T) n.44A>T c.1204A>T (p.Ser402Cys) c.5-7072A>T (n.5-7072A>T) c.364A>T (p.Ser122Cys) c.-98-20833A>T (n.-98-20833A>T) n.5027A>T n.5068A>T | ClinVar dbSNP |
17 | g.43071023T>C | CA10591742 | BRCA1 | c.4888A>G (p.Ser1630Gly) c.4891A>G (p.Ser1631Gly) c.4765A>G (p.Ser1589Gly) c.4885A>G (p.Ser1629Gly) c.4813A>G (p.Ser1605Gly) c.1579A>G (p.Ser527Gly) c.1441A>G (p.Ser481Gly) c.4003A>G (p.Ser1335Gly) c.4768A>G (p.Ser1590Gly) c.4957A>G (p.Ser1653Gly) c.4750A>G (p.Ser1584Gly) c.1453A>G (p.Ser485Gly) c.1498A>G (p.Ser500Gly) c.4954A>G (p.Ser1652Gly) c.1278A>G c.1465A>G (p.Ser489Gly) c.*4674A>G (n.*4674A>G) n.44A>G c.1204A>G (p.Ser402Gly) c.5-7072A>G (n.5-7072A>G) c.364A>G (p.Ser122Gly) c.-98-20833A>G (n.-98-20833A>G) n.5027A>G n.5068A>G | ClinVar dbSNP |
17 | g.43071023T>G | CA10591743 | BRCA1 | c.4888A>C (p.Ser1630Arg) c.4891A>C (p.Ser1631Arg) c.4765A>C (p.Ser1589Arg) c.4885A>C (p.Ser1629Arg) c.4813A>C (p.Ser1605Arg) c.1579A>C (p.Ser527Arg) c.1441A>C (p.Ser481Arg) c.4003A>C (p.Ser1335Arg) c.4768A>C (p.Ser1590Arg) c.4957A>C (p.Ser1653Arg) c.4750A>C (p.Ser1584Arg) c.1453A>C (p.Ser485Arg) c.1498A>C (p.Ser500Arg) c.4954A>C (p.Ser1652Arg) c.1278A>C c.1465A>C (p.Ser489Arg) c.*4674A>C (n.*4674A>C) n.44A>C c.1204A>C (p.Ser402Arg) c.5-7072A>C (n.5-7072A>C) c.364A>C (p.Ser122Arg) c.-98-20833A>C (n.-98-20833A>C) n.5027A>C n.5068A>C | ClinVar dbSNP |
17 | g.43071023T= | CA2260772848 | BRCA1 | c.4888A= (p.Ser1630=) c.4891A= (p.Ser1631=) c.4765A= (p.Ser1589=) c.4885A= (p.Ser1629=) c.4813A= (p.Ser1605=) c.1579A= (p.Ser527=) c.1441A= (p.Ser481=) c.4003A= (p.Ser1335=) c.4768A= (p.Ser1590=) c.4957A= (p.Ser1653=) c.4750A= (p.Ser1584=) c.1453A= (p.Ser485=) c.1498A= (p.Ser500=) c.4954A= (p.Ser1652=) c.1278A= c.1465A= (p.Ser489=) c.*4674A= (n.*4674A=) n.44A= c.1204A= (p.Ser402=) c.5-7072A= (n.5-7072A=) c.364A= (p.Ser122=) c.-98-20833A= (n.-98-20833A=) n.5027A= n.5068A= | |
17 | g.43071025dup | CA003065 | BRCA1 | c.4888dup (p.Ser1630LysfsTer?) c.4891dup (p.Ser1631LysfsTer?) c.4765dup (p.Ser1589LysfsTer?) c.4885dup (p.Ser1629LysfsTer?) c.4813dup (p.Ser1605LysfsTer?) c.1579dup (p.Ser527LysfsTer?) c.1441dup (p.Ser481LysfsTer?) c.4003dup (p.Ser1335LysfsTer?) c.4768dup (p.Ser1590LysfsTer?) c.4957dup (p.Ser1653LysfsTer?) c.4750dup (p.Ser1584LysfsTer?) c.1453dup (p.Ser485LysfsTer?) c.1498dup (p.Ser500LysfsTer?) c.4954dup (p.Ser1652LysfsTer?) c.1278dup c.1465dup (p.Ser489LysfsTer?) c.*4674dup (n.*4674dup) n.44dup c.1204dup (p.Ser402LysfsTer?) c.5-7072dup (n.5-7072dup) c.364dup (p.Ser122LysfsTer?) c.-98-20833dup (n.-98-20833dup) n.5027dup n.5068dup | ClinVar dbSNP |
17 | g.43071025del | CA10589638 | BRCA1 | c.4888del (p.Ser1630ValfsTer2) c.4891del (p.Ser1631ValfsTer2) c.4765del (p.Ser1589ValfsTer2) c.4885del (p.Ser1629ValfsTer2) c.4813del (p.Ser1605ValfsTer2) c.1579del (p.Ser527ValfsTer2) c.1441del (p.Ser481ValfsTer2) c.4003del (p.Ser1335ValfsTer2) c.4768del (p.Ser1590ValfsTer2) c.4957del (p.Ser1653ValfsTer2) c.4750del (p.Ser1584ValfsTer2) c.1453del (p.Ser485ValfsTer2) c.1498del (p.Ser500ValfsTer2) c.4954del (p.Ser1652ValfsTer2) c.1278del c.1465del (p.Ser489ValfsTer2) c.*4674del (n.*4674del) n.44del c.1204del (p.Ser402ValfsTer2) c.5-7072del (n.5-7072del) c.364del (p.Ser122ValfsTer2) c.-98-20833del (n.-98-20833del) n.5027del n.5068del | ClinVar dbSNP |
17 | g.43071024T>A | CA10591744 | BRCA1 | c.4887A>T (p.Glu1629Asp) c.4890A>T (p.Glu1630Asp) c.4764A>T (p.Glu1588Asp) c.4884A>T (p.Glu1628Asp) c.4812A>T (p.Glu1604Asp) c.1578A>T (p.Glu526Asp) c.1440A>T (p.Glu480Asp) c.4002A>T (p.Glu1334Asp) c.4767A>T (p.Glu1589Asp) c.4956A>T (p.Glu1652Asp) c.4749A>T (p.Glu1583Asp) c.1452A>T (p.Glu484Asp) c.1497A>T (p.Glu499Asp) c.4953A>T (p.Glu1651Asp) c.1277A>T c.1464A>T (p.Glu488Asp) c.*4673A>T (n.*4673A>T) n.43A>T c.1203A>T (p.Glu401Asp) c.5-7073A>T (n.5-7073A>T) c.363A>T (p.Glu121Asp) c.-98-20834A>T (n.-98-20834A>T) n.5026A>T n.5067A>T | dbSNP |
17 | g.43071024T>C | CA500231736 | BRCA1 | c.4887A>G (p.Glu1629=) c.4890A>G (p.Glu1630=) c.4764A>G (p.Glu1588=) c.4884A>G (p.Glu1628=) c.4812A>G (p.Glu1604=) c.1578A>G (p.Glu526=) c.1440A>G (p.Glu480=) c.4002A>G (p.Glu1334=) c.4767A>G (p.Glu1589=) c.4956A>G (p.Glu1652=) c.4749A>G (p.Glu1583=) c.1452A>G (p.Glu484=) c.1497A>G (p.Glu499=) c.4953A>G (p.Glu1651=) c.1277A>G c.1464A>G (p.Glu488=) c.*4673A>G (n.*4673A>G) n.43A>G c.1203A>G (p.Glu401=) c.5-7073A>G (n.5-7073A>G) c.363A>G (p.Glu121=) c.-98-20834A>G (n.-98-20834A>G) n.5026A>G n.5067A>G | ClinVar dbSNP |
17 | g.43071024T>G | CA10591745 | BRCA1 | c.4887A>C (p.Glu1629Asp) c.4890A>C (p.Glu1630Asp) c.4764A>C (p.Glu1588Asp) c.4884A>C (p.Glu1628Asp) c.4812A>C (p.Glu1604Asp) c.1578A>C (p.Glu526Asp) c.1440A>C (p.Glu480Asp) c.4002A>C (p.Glu1334Asp) c.4767A>C (p.Glu1589Asp) c.4956A>C (p.Glu1652Asp) c.4749A>C (p.Glu1583Asp) c.1452A>C (p.Glu484Asp) c.1497A>C (p.Glu499Asp) c.4953A>C (p.Glu1651Asp) c.1277A>C c.1464A>C (p.Glu488Asp) c.*4673A>C (n.*4673A>C) n.43A>C c.1203A>C (p.Glu401Asp) c.5-7073A>C (n.5-7073A>C) c.363A>C (p.Glu121Asp) c.-98-20834A>C (n.-98-20834A>C) n.5026A>C n.5067A>C | |
17 | g.43071024_43071026delinsTTC | CA2260772849 | BRCA1 | c.4885_4887delinsGAA (p.Glu1629=) c.4888_4890delinsGAA (p.Glu1630=) c.4762_4764delinsGAA (p.Glu1588=) c.4882_4884delinsGAA (p.Glu1628=) c.4810_4812delinsGAA (p.Glu1604=) c.1576_1578delinsGAA (p.Glu526=) c.1438_1440delinsGAA (p.Glu480=) c.4000_4002delinsGAA (p.Glu1334=) c.4765_4767delinsGAA (p.Glu1589=) c.4954_4956delinsGAA (p.Glu1652=) c.4747_4749delinsGAA (p.Glu1583=) c.1450_1452delinsGAA (p.Glu484=) c.1495_1497delinsGAA (p.Glu499=) c.4951_4953delinsGAA (p.Glu1651=) c.1275_1277delinsGAA c.1462_1464delinsGAA (p.Glu488=) c.*4671_*4673delinsGAA (n.*4671_*4673delinsGAA) n.41_43delinsGAA c.1201_1203delinsGAA (p.Glu401=) c.5-7075_5-7073delinsGAA (n.5-7075_5-7073delinsGAA) c.361_363delinsGAA (p.Glu121=) c.-98-20836_-98-20834delinsGAA (n.-98-20836_-98-20834delinsGAA) n.5024_5026delinsGAA n.5065_5067delinsGAA | |
17 | g.43071026_43071033del | CA2582342171 | BRCA1 | c.4880_4887del (p.Met1627LysfsTer?) c.4883_4890del (p.Met1628LysfsTer?) c.4757_4764del (p.Met1586LysfsTer?) c.4877_4884del (p.Met1626LysfsTer?) c.4805_4812del (p.Met1602LysfsTer?) c.1571_1578del (p.Met524LysfsTer?) c.1433_1440del (p.Met478LysfsTer?) c.3995_4002del (p.Met1332LysfsTer?) c.4760_4767del (p.Met1587LysfsTer?) c.4949_4956del (p.Met1650LysfsTer?) c.4742_4749del (p.Met1581LysfsTer?) c.1445_1452del (p.Met482LysfsTer?) c.1490_1497del (p.Met497LysfsTer?) c.4946_4953del (p.Met1649LysfsTer?) c.1270_1277del c.1457_1464del (p.Met486LysfsTer?) c.*4666_*4673del (n.*4666_*4673del) n.36_43del c.1196_1203del (p.Met399LysfsTer?) c.5-7080_5-7073del (n.5-7080_5-7073del) c.356_363del (p.Met119LysfsTer?) c.-98-20841_-98-20834del (n.-98-20841_-98-20834del) n.5019_5026del n.5060_5067del | ClinVar |
17 | g.43071025T>A | CA10591746 | BRCA1 | c.4886A>T (p.Glu1629Val) c.4889A>T (p.Glu1630Val) c.4763A>T (p.Glu1588Val) c.4883A>T (p.Glu1628Val) c.4811A>T (p.Glu1604Val) c.1577A>T (p.Glu526Val) c.1439A>T (p.Glu480Val) c.4001A>T (p.Glu1334Val) c.4766A>T (p.Glu1589Val) c.4955A>T (p.Glu1652Val) c.4748A>T (p.Glu1583Val) c.1451A>T (p.Glu484Val) c.1496A>T (p.Glu499Val) c.4952A>T (p.Glu1651Val) c.1276A>T c.1463A>T (p.Glu488Val) c.*4672A>T (n.*4672A>T) n.42A>T c.1202A>T (p.Glu401Val) c.5-7074A>T (n.5-7074A>T) c.362A>T (p.Glu121Val) c.-98-20835A>T (n.-98-20835A>T) n.5025A>T n.5066A>T | |
17 | g.43071025T>C | CA10591747 | BRCA1 | c.4886A>G (p.Glu1629Gly) c.4889A>G (p.Glu1630Gly) c.4763A>G (p.Glu1588Gly) c.4883A>G (p.Glu1628Gly) c.4811A>G (p.Glu1604Gly) c.1577A>G (p.Glu526Gly) c.1439A>G (p.Glu480Gly) c.4001A>G (p.Glu1334Gly) c.4766A>G (p.Glu1589Gly) c.4955A>G (p.Glu1652Gly) c.4748A>G (p.Glu1583Gly) c.1451A>G (p.Glu484Gly) c.1496A>G (p.Glu499Gly) c.4952A>G (p.Glu1651Gly) c.1276A>G c.1463A>G (p.Glu488Gly) c.*4672A>G (n.*4672A>G) n.42A>G c.1202A>G (p.Glu401Gly) c.5-7074A>G (n.5-7074A>G) c.362A>G (p.Glu121Gly) c.-98-20835A>G (n.-98-20835A>G) n.5025A>G n.5066A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43071025T>G | CA10591748 | BRCA1 | c.4886A>C (p.Glu1629Ala) c.4889A>C (p.Glu1630Ala) c.4763A>C (p.Glu1588Ala) c.4883A>C (p.Glu1628Ala) c.4811A>C (p.Glu1604Ala) c.1577A>C (p.Glu526Ala) c.1439A>C (p.Glu480Ala) c.4001A>C (p.Glu1334Ala) c.4766A>C (p.Glu1589Ala) c.4955A>C (p.Glu1652Ala) c.4748A>C (p.Glu1583Ala) c.1451A>C (p.Glu484Ala) c.1496A>C (p.Glu499Ala) c.4952A>C (p.Glu1651Ala) c.1276A>C c.1463A>C (p.Glu488Ala) c.*4672A>C (n.*4672A>C) n.42A>C c.1202A>C (p.Glu401Ala) c.5-7074A>C (n.5-7074A>C) c.362A>C (p.Glu121Ala) c.-98-20835A>C (n.-98-20835A>C) n.5025A>C n.5066A>C | |
17 | g.43071026_43071027del | CA10586110 | BRCA1 | c.4885_4886del (p.Glu1629LysfsTer?) c.4888_4889del (p.Glu1630LysfsTer?) c.4762_4763del (p.Glu1588LysfsTer?) c.4882_4883del (p.Glu1628LysfsTer?) c.4810_4811del (p.Glu1604LysfsTer?) c.1576_1577del (p.Glu526LysfsTer?) c.1438_1439del (p.Glu480LysfsTer?) c.4000_4001del (p.Glu1334LysfsTer?) c.4765_4766del (p.Glu1589LysfsTer?) c.4954_4955del (p.Glu1652LysfsTer?) c.4747_4748del (p.Glu1583LysfsTer?) c.1450_1451del (p.Glu484LysfsTer?) c.1495_1496del (p.Glu499LysfsTer?) c.4951_4952del (p.Glu1651LysfsTer?) c.1275_1276del c.1462_1463del (p.Glu488LysfsTer?) c.*4671_*4672del (n.*4671_*4672del) n.41_42del c.1201_1202del (p.Glu401LysfsTer?) c.5-7075_5-7074del (n.5-7075_5-7074del) c.361_362del (p.Glu121LysfsTer?) c.-98-20836_-98-20835del (n.-98-20836_-98-20835del) n.5024_5025del n.5065_5066del | ClinVar dbSNP |
17 | g.43071026C>A | CA10591749 | BRCA1 | c.4885G>T (p.Glu1629Ter) c.4888G>T (p.Glu1630Ter) c.4762G>T (p.Glu1588Ter) c.4882G>T (p.Glu1628Ter) c.4810G>T (p.Glu1604Ter) c.1576G>T (p.Glu526Ter) c.1438G>T (p.Glu480Ter) c.4000G>T (p.Glu1334Ter) c.4765G>T (p.Glu1589Ter) c.4954G>T (p.Glu1652Ter) c.4747G>T (p.Glu1583Ter) c.1450G>T (p.Glu484Ter) c.1495G>T (p.Glu499Ter) c.4951G>T (p.Glu1651Ter) c.1275G>T c.1462G>T (p.Glu488Ter) c.*4671G>T (n.*4671G>T) n.41G>T c.1201G>T (p.Glu401Ter) c.5-7075G>T (n.5-7075G>T) c.361G>T (p.Glu121Ter) c.-98-20836G>T (n.-98-20836G>T) n.5024G>T n.5065G>T | ClinVar dbSNP |
17 | g.43071026C= | CA2260772851 | BRCA1 | c.4885G= (p.Glu1629=) c.4888G= (p.Glu1630=) c.4762G= (p.Glu1588=) c.4882G= (p.Glu1628=) c.4810G= (p.Glu1604=) c.1576G= (p.Glu526=) c.1438G= (p.Glu480=) c.4000G= (p.Glu1334=) c.4765G= (p.Glu1589=) c.4954G= (p.Glu1652=) c.4747G= (p.Glu1583=) c.1450G= (p.Glu484=) c.1495G= (p.Glu499=) c.4951G= (p.Glu1651=) c.1275G= c.1462G= (p.Glu488=) c.*4671G= (n.*4671G=) n.41G= c.1201G= (p.Glu401=) c.5-7075G= (n.5-7075G=) c.361G= (p.Glu121=) c.-98-20836G= (n.-98-20836G=) n.5024G= n.5065G= | |
17 | g.43071026C>G | CA10591750 | BRCA1 | c.4885G>C (p.Glu1629Gln) c.4888G>C (p.Glu1630Gln) c.4762G>C (p.Glu1588Gln) c.4882G>C (p.Glu1628Gln) c.4810G>C (p.Glu1604Gln) c.1576G>C (p.Glu526Gln) c.1438G>C (p.Glu480Gln) c.4000G>C (p.Glu1334Gln) c.4765G>C (p.Glu1589Gln) c.4954G>C (p.Glu1652Gln) c.4747G>C (p.Glu1583Gln) c.1450G>C (p.Glu484Gln) c.1495G>C (p.Glu499Gln) c.4951G>C (p.Glu1651Gln) c.1275G>C c.1462G>C (p.Glu488Gln) c.*4671G>C (n.*4671G>C) n.41G>C c.1201G>C (p.Glu401Gln) c.5-7075G>C (n.5-7075G>C) c.361G>C (p.Glu121Gln) c.-98-20836G>C (n.-98-20836G>C) n.5024G>C n.5065G>C | dbSNP |
17 | g.43071026C>T | CA10591751 | BRCA1 | c.4885G>A (p.Glu1629Lys) c.4888G>A (p.Glu1630Lys) c.4762G>A (p.Glu1588Lys) c.4882G>A (p.Glu1628Lys) c.4810G>A (p.Glu1604Lys) c.1576G>A (p.Glu526Lys) c.1438G>A (p.Glu480Lys) c.4000G>A (p.Glu1334Lys) c.4765G>A (p.Glu1589Lys) c.4954G>A (p.Glu1652Lys) c.4747G>A (p.Glu1583Lys) c.1450G>A (p.Glu484Lys) c.1495G>A (p.Glu499Lys) c.4951G>A (p.Glu1651Lys) c.1275G>A c.1462G>A (p.Glu488Lys) c.*4671G>A (n.*4671G>A) n.41G>A c.1201G>A (p.Glu401Lys) c.5-7075G>A (n.5-7075G>A) c.361G>A (p.Glu121Lys) c.-98-20836G>A (n.-98-20836G>A) n.5024G>A n.5065G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43071026_43071027delinsCT | CA2260772850 | BRCA1 | c.4884_4885delinsAG (p.Glu1628=) c.4887_4888delinsAG (p.Glu1629=) c.4761_4762delinsAG (p.Glu1587=) c.4881_4882delinsAG (p.Glu1627=) c.4809_4810delinsAG (p.Glu1603=) c.1575_1576delinsAG (p.Glu525=) c.1437_1438delinsAG (p.Glu479=) c.3999_4000delinsAG (p.Glu1333=) c.4764_4765delinsAG (p.Glu1588=) c.4953_4954delinsAG (p.Glu1651=) c.4746_4747delinsAG (p.Glu1582=) c.1449_1450delinsAG (p.Glu483=) c.1494_1495delinsAG (p.Glu498=) c.4950_4951delinsAG (p.Glu1650=) c.1274_1275delinsAG c.1461_1462delinsAG (p.Glu487=) c.*4670_*4671delinsAG (n.*4670_*4671delinsAG) n.40_41delinsAG c.1200_1201delinsAG (p.Glu400=) c.5-7076_5-7075delinsAG (n.5-7076_5-7075delinsAG) c.360_361delinsAG (p.Glu120=) c.-98-20837_-98-20836delinsAG (n.-98-20837_-98-20836delinsAG) n.5023_5024delinsAG n.5064_5065delinsAG | |
17 | g.43071026_43071027insG | CA919844193 | BRCA1 | c.4884_4885insC (p.Glu1629ArgfsTer?) c.4887_4888insC (p.Glu1630ArgfsTer?) c.4761_4762insC (p.Glu1588ArgfsTer?) c.4881_4882insC (p.Glu1628ArgfsTer?) c.4809_4810insC (p.Glu1604ArgfsTer?) c.1575_1576insC (p.Glu526ArgfsTer?) c.1437_1438insC (p.Glu480ArgfsTer?) c.3999_4000insC (p.Glu1334ArgfsTer?) c.4764_4765insC (p.Glu1589ArgfsTer?) c.4953_4954insC (p.Glu1652ArgfsTer?) c.4746_4747insC (p.Glu1583ArgfsTer?) c.1449_1450insC (p.Glu484ArgfsTer?) c.1494_1495insC (p.Glu499ArgfsTer?) c.4950_4951insC (p.Glu1651ArgfsTer?) c.1274_1275insC c.1461_1462insC (p.Glu488ArgfsTer?) c.*4670_*4671insC (n.*4670_*4671insC) n.40_41insC c.1200_1201insC (p.Glu401ArgfsTer?) c.5-7076_5-7075insC (n.5-7076_5-7075insC) c.360_361insC (p.Glu121ArgfsTer?) c.-98-20837_-98-20836insC (n.-98-20837_-98-20836insC) n.5023_5024insC n.5064_5065insC | dbSNP |
17 | g.43071027T>A | CA10591752 | BRCA1 | c.4884A>T (p.Glu1628Asp) c.4887A>T (p.Glu1629Asp) c.4761A>T (p.Glu1587Asp) c.4881A>T (p.Glu1627Asp) c.4809A>T (p.Glu1603Asp) c.1575A>T (p.Glu525Asp) c.1437A>T (p.Glu479Asp) c.3999A>T (p.Glu1333Asp) c.4764A>T (p.Glu1588Asp) c.4953A>T (p.Glu1651Asp) c.4746A>T (p.Glu1582Asp) c.1449A>T (p.Glu483Asp) c.1494A>T (p.Glu498Asp) c.4950A>T (p.Glu1650Asp) c.1274A>T c.1461A>T (p.Glu487Asp) c.*4670A>T (n.*4670A>T) n.40A>T c.1200A>T (p.Glu400Asp) c.5-7076A>T (n.5-7076A>T) c.360A>T (p.Glu120Asp) c.-98-20837A>T (n.-98-20837A>T) n.5023A>T n.5064A>T | dbSNP |
17 | g.43071027T>C | CA500231742 | BRCA1 | c.4884A>G (p.Glu1628=) c.4887A>G (p.Glu1629=) c.4761A>G (p.Glu1587=) c.4881A>G (p.Glu1627=) c.4809A>G (p.Glu1603=) c.1575A>G (p.Glu525=) c.1437A>G (p.Glu479=) c.3999A>G (p.Glu1333=) c.4764A>G (p.Glu1588=) c.4953A>G (p.Glu1651=) c.4746A>G (p.Glu1582=) c.1449A>G (p.Glu483=) c.1494A>G (p.Glu498=) c.4950A>G (p.Glu1650=) c.1274A>G c.1461A>G (p.Glu487=) c.*4670A>G (n.*4670A>G) n.40A>G c.1200A>G (p.Glu400=) c.5-7076A>G (n.5-7076A>G) c.360A>G (p.Glu120=) c.-98-20837A>G (n.-98-20837A>G) n.5023A>G n.5064A>G | |
17 | g.43071027T>G | CA10591753 | BRCA1 | c.4884A>C (p.Glu1628Asp) c.4887A>C (p.Glu1629Asp) c.4761A>C (p.Glu1587Asp) c.4881A>C (p.Glu1627Asp) c.4809A>C (p.Glu1603Asp) c.1575A>C (p.Glu525Asp) c.1437A>C (p.Glu479Asp) c.3999A>C (p.Glu1333Asp) c.4764A>C (p.Glu1588Asp) c.4953A>C (p.Glu1651Asp) c.4746A>C (p.Glu1582Asp) c.1449A>C (p.Glu483Asp) c.1494A>C (p.Glu498Asp) c.4950A>C (p.Glu1650Asp) c.1274A>C c.1461A>C (p.Glu487Asp) c.*4670A>C (n.*4670A>C) n.40A>C c.1200A>C (p.Glu400Asp) c.5-7076A>C (n.5-7076A>C) c.360A>C (p.Glu120Asp) c.-98-20837A>C (n.-98-20837A>C) n.5023A>C n.5064A>C | |
17 | g.43071027_43071028delinsG | CA2499224390 | BRCA1 | c.4883_4884delinsC (p.Glu1628AlafsTer4) c.4886_4887delinsC (p.Glu1629AlafsTer4) c.4760_4761delinsC (p.Glu1587AlafsTer4) c.4880_4881delinsC (p.Glu1627AlafsTer4) c.4808_4809delinsC (p.Glu1603AlafsTer4) c.1574_1575delinsC (p.Glu525AlafsTer4) c.1436_1437delinsC (p.Glu479AlafsTer4) c.3998_3999delinsC (p.Glu1333AlafsTer4) c.4763_4764delinsC (p.Glu1588AlafsTer4) c.4952_4953delinsC (p.Glu1651AlafsTer4) c.4745_4746delinsC (p.Glu1582AlafsTer4) c.1448_1449delinsC (p.Glu483AlafsTer4) c.1493_1494delinsC (p.Glu498AlafsTer4) c.4949_4950delinsC (p.Glu1650AlafsTer4) c.1273_1274delinsC c.1460_1461delinsC (p.Glu487AlafsTer4) c.*4669_*4670delinsC (n.*4669_*4670delinsC) n.39_40delinsC c.1199_1200delinsC (p.Glu400AlafsTer4) c.5-7077_5-7076delinsC (n.5-7077_5-7076delinsC) c.359_360delinsC (p.Glu120AlafsTer4) c.-98-20838_-98-20837delinsC (n.-98-20838_-98-20837delinsC) n.5022_5023delinsC n.5063_5064delinsC | |
17 | g.43071028del | CA919844194 | BRCA1 | c.4884del (p.Glu1629LysfsTer3) c.4887del (p.Glu1630LysfsTer3) c.4761del (p.Glu1588LysfsTer3) c.4881del (p.Glu1628LysfsTer3) c.4809del (p.Glu1604LysfsTer3) c.1575del (p.Glu526LysfsTer3) c.1437del (p.Glu480LysfsTer3) c.3999del (p.Glu1334LysfsTer3) c.4764del (p.Glu1589LysfsTer3) c.4953del (p.Glu1652LysfsTer3) c.4746del (p.Glu1583LysfsTer3) c.1449del (p.Glu484LysfsTer3) c.1494del (p.Glu499LysfsTer3) c.4950del (p.Glu1651LysfsTer3) c.1274del c.1461del (p.Glu488LysfsTer3) c.*4670del (n.*4670del) n.40del c.1200del (p.Glu401LysfsTer3) c.5-7076del (n.5-7076del) c.360del (p.Glu121LysfsTer3) c.-98-20837del (n.-98-20837del) n.5023del n.5064del | dbSNP |
17 | g.43071028T>A | CA10591754 | BRCA1 | c.4883A>T (p.Glu1628Val) c.4886A>T (p.Glu1629Val) c.4760A>T (p.Glu1587Val) c.4880A>T (p.Glu1627Val) c.4808A>T (p.Glu1603Val) c.1574A>T (p.Glu525Val) c.1436A>T (p.Glu479Val) c.3998A>T (p.Glu1333Val) c.4763A>T (p.Glu1588Val) c.4952A>T (p.Glu1651Val) c.4745A>T (p.Glu1582Val) c.1448A>T (p.Glu483Val) c.1493A>T (p.Glu498Val) c.4949A>T (p.Glu1650Val) c.1273A>T c.1460A>T (p.Glu487Val) c.*4669A>T (n.*4669A>T) n.39A>T c.1199A>T (p.Glu400Val) c.5-7077A>T (n.5-7077A>T) c.359A>T (p.Glu120Val) c.-98-20838A>T (n.-98-20838A>T) n.5022A>T n.5063A>T | dbSNP |
17 | g.43071028T>C | CA10591755 | BRCA1 | c.4883A>G (p.Glu1628Gly) c.4886A>G (p.Glu1629Gly) c.4760A>G (p.Glu1587Gly) c.4880A>G (p.Glu1627Gly) c.4808A>G (p.Glu1603Gly) c.1574A>G (p.Glu525Gly) c.1436A>G (p.Glu479Gly) c.3998A>G (p.Glu1333Gly) c.4763A>G (p.Glu1588Gly) c.4952A>G (p.Glu1651Gly) c.4745A>G (p.Glu1582Gly) c.1448A>G (p.Glu483Gly) c.1493A>G (p.Glu498Gly) c.4949A>G (p.Glu1650Gly) c.1273A>G c.1460A>G (p.Glu487Gly) c.*4669A>G (n.*4669A>G) n.39A>G c.1199A>G (p.Glu400Gly) c.5-7077A>G (n.5-7077A>G) c.359A>G (p.Glu120Gly) c.-98-20838A>G (n.-98-20838A>G) n.5022A>G n.5063A>G | ClinVar dbSNP |
17 | g.43071028T>G | CA10591756 | BRCA1 | c.4883A>C (p.Glu1628Ala) c.4886A>C (p.Glu1629Ala) c.4760A>C (p.Glu1587Ala) c.4880A>C (p.Glu1627Ala) c.4808A>C (p.Glu1603Ala) c.1574A>C (p.Glu525Ala) c.1436A>C (p.Glu479Ala) c.3998A>C (p.Glu1333Ala) c.4763A>C (p.Glu1588Ala) c.4952A>C (p.Glu1651Ala) c.4745A>C (p.Glu1582Ala) c.1448A>C (p.Glu483Ala) c.1493A>C (p.Glu498Ala) c.4949A>C (p.Glu1650Ala) c.1273A>C c.1460A>C (p.Glu487Ala) c.*4669A>C (n.*4669A>C) n.39A>C c.1199A>C (p.Glu400Ala) c.5-7077A>C (n.5-7077A>C) c.359A>C (p.Glu120Ala) c.-98-20838A>C (n.-98-20838A>C) n.5022A>C n.5063A>C | |
17 | g.43071028_43071029delinsTC | CA2260772852 | BRCA1 | c.4882_4883delinsGA (p.Glu1628=) c.4885_4886delinsGA (p.Glu1629=) c.4759_4760delinsGA (p.Glu1587=) c.4879_4880delinsGA (p.Glu1627=) c.4807_4808delinsGA (p.Glu1603=) c.1573_1574delinsGA (p.Glu525=) c.1435_1436delinsGA (p.Glu479=) c.3997_3998delinsGA (p.Glu1333=) c.4762_4763delinsGA (p.Glu1588=) c.4951_4952delinsGA (p.Glu1651=) c.4744_4745delinsGA (p.Glu1582=) c.1447_1448delinsGA (p.Glu483=) c.1492_1493delinsGA (p.Glu498=) c.4948_4949delinsGA (p.Glu1650=) c.1272_1273delinsGA c.1459_1460delinsGA (p.Glu487=) c.*4668_*4669delinsGA (n.*4668_*4669delinsGA) n.38_39delinsGA c.1198_1199delinsGA (p.Glu400=) c.5-7078_5-7077delinsGA (n.5-7078_5-7077delinsGA) c.358_359delinsGA (p.Glu120=) c.-98-20839_-98-20838delinsGA (n.-98-20839_-98-20838delinsGA) n.5021_5022delinsGA n.5062_5063delinsGA | |
17 | g.43071028_43071041delinsTCCATTGCATTATA | CA2260772853 | BRCA1 | c.4870_4883delinsTATAATGCAATGGA (p.Tyr1624=) c.4873_4886delinsTATAATGCAATGGA (p.Tyr1625=) c.4747_4760delinsTATAATGCAATGGA (p.Tyr1583=) c.4867_4880delinsTATAATGCAATGGA (p.Tyr1623=) c.4795_4808delinsTATAATGCAATGGA (p.Tyr1599=) c.1561_1574delinsTATAATGCAATGGA (p.Tyr521=) c.1423_1436delinsTATAATGCAATGGA (p.Tyr475=) c.3985_3998delinsTATAATGCAATGGA (p.Tyr1329=) c.4750_4763delinsTATAATGCAATGGA (p.Tyr1584=) c.4939_4952delinsTATAATGCAATGGA (p.Tyr1647=) c.4732_4745delinsTATAATGCAATGGA (p.Tyr1578=) c.1435_1448delinsTATAATGCAATGGA (p.Tyr479=) c.1480_1493delinsTATAATGCAATGGA (p.Tyr494=) c.4936_4949delinsTATAATGCAATGGA (p.Tyr1646=) c.1260_1273delinsTATAATGCAATGGA c.1447_1460delinsTATAATGCAATGGA (p.Tyr483=) c.*4656_*4669delinsTATAATGCAATGGA (n.*4656_*4669delinsTATAATGCAATGGA) n.26_39delinsTATAATGCAATGGA c.1186_1199delinsTATAATGCAATGGA (p.Tyr396=) c.5-7090_5-7077delinsTATAATGCAATGGA (n.5-7090_5-7077delinsTATAATGCAATGGA) c.346_359delinsTATAATGCAATGGA (p.Tyr116=) c.-98-20851_-98-20838delinsTATAATGCAATGGA (n.-98-20851_-98-20838delinsTATAATGCAATGGA) n.5009_5022delinsTATAATGCAATGGA n.5050_5063delinsTATAATGCAATGGA | |
17 | g.43071029C>A | CA10591757 | BRCA1 | c.4882G>T (p.Glu1628Ter) c.4885G>T (p.Glu1629Ter) c.4759G>T (p.Glu1587Ter) c.4879G>T (p.Glu1627Ter) c.4807G>T (p.Glu1603Ter) c.1573G>T (p.Glu525Ter) c.1435G>T (p.Glu479Ter) c.3997G>T (p.Glu1333Ter) c.4762G>T (p.Glu1588Ter) c.4951G>T (p.Glu1651Ter) c.4744G>T (p.Glu1582Ter) c.1447G>T (p.Glu483Ter) c.1492G>T (p.Glu498Ter) c.4948G>T (p.Glu1650Ter) c.1272G>T c.1459G>T (p.Glu487Ter) c.*4668G>T (n.*4668G>T) n.38G>T c.1198G>T (p.Glu400Ter) c.5-7078G>T (n.5-7078G>T) c.358G>T (p.Glu120Ter) c.-98-20839G>T (n.-98-20839G>T) n.5021G>T n.5062G>T | dbSNP |
17 | g.43071029C>G | CA10591758 | BRCA1 | c.4882G>C (p.Glu1628Gln) c.4885G>C (p.Glu1629Gln) c.4759G>C (p.Glu1587Gln) c.4879G>C (p.Glu1627Gln) c.4807G>C (p.Glu1603Gln) c.1573G>C (p.Glu525Gln) c.1435G>C (p.Glu479Gln) c.3997G>C (p.Glu1333Gln) c.4762G>C (p.Glu1588Gln) c.4951G>C (p.Glu1651Gln) c.4744G>C (p.Glu1582Gln) c.1447G>C (p.Glu483Gln) c.1492G>C (p.Glu498Gln) c.4948G>C (p.Glu1650Gln) c.1272G>C c.1459G>C (p.Glu487Gln) c.*4668G>C (n.*4668G>C) n.38G>C c.1198G>C (p.Glu400Gln) c.5-7078G>C (n.5-7078G>C) c.358G>C (p.Glu120Gln) c.-98-20839G>C (n.-98-20839G>C) n.5021G>C n.5062G>C | dbSNP |
17 | g.43071029C>T | CA10591759 | BRCA1 | c.4882G>A (p.Glu1628Lys) c.4885G>A (p.Glu1629Lys) c.4759G>A (p.Glu1587Lys) c.4879G>A (p.Glu1627Lys) c.4807G>A (p.Glu1603Lys) c.1573G>A (p.Glu525Lys) c.1435G>A (p.Glu479Lys) c.3997G>A (p.Glu1333Lys) c.4762G>A (p.Glu1588Lys) c.4951G>A (p.Glu1651Lys) c.4744G>A (p.Glu1582Lys) c.1447G>A (p.Glu483Lys) c.1492G>A (p.Glu498Lys) c.4948G>A (p.Glu1650Lys) c.1272G>A c.1459G>A (p.Glu487Lys) c.*4668G>A (n.*4668G>A) n.38G>A c.1198G>A (p.Glu400Lys) c.5-7078G>A (n.5-7078G>A) c.358G>A (p.Glu120Lys) c.-98-20839G>A (n.-98-20839G>A) n.5021G>A n.5062G>A | dbSNP |
17 | g.43071030dup | CA10589639 | BRCA1 | c.4882dup (p.Glu1628GlyfsTer?) c.4885dup (p.Glu1629GlyfsTer?) c.4759dup (p.Glu1587GlyfsTer?) c.4879dup (p.Glu1627GlyfsTer?) c.4807dup (p.Glu1603GlyfsTer?) c.1573dup (p.Glu525GlyfsTer?) c.1435dup (p.Glu479GlyfsTer?) c.3997dup (p.Glu1333GlyfsTer?) c.4762dup (p.Glu1588GlyfsTer?) c.4951dup (p.Glu1651GlyfsTer?) c.4744dup (p.Glu1582GlyfsTer?) c.1447dup (p.Glu483GlyfsTer?) c.1492dup (p.Glu498GlyfsTer?) c.4948dup (p.Glu1650GlyfsTer?) c.1272dup c.1459dup (p.Glu487GlyfsTer?) c.*4668dup (n.*4668dup) n.38dup c.1198dup (p.Glu400GlyfsTer?) c.5-7078dup (n.5-7078dup) c.358dup (p.Glu120GlyfsTer?) c.-98-20839dup (n.-98-20839dup) n.5021dup n.5062dup | ClinVar dbSNP |
17 | g.43071030del | CA658825003 | BRCA1 | c.4882del (p.Glu1628LysfsTer4) c.4885del (p.Glu1629LysfsTer4) c.4759del (p.Glu1587LysfsTer4) c.4879del (p.Glu1627LysfsTer4) c.4807del (p.Glu1603LysfsTer4) c.1573del (p.Glu525LysfsTer4) c.1435del (p.Glu479LysfsTer4) c.3997del (p.Glu1333LysfsTer4) c.4762del (p.Glu1588LysfsTer4) c.4951del (p.Glu1651LysfsTer4) c.4744del (p.Glu1582LysfsTer4) c.1447del (p.Glu483LysfsTer4) c.1492del (p.Glu498LysfsTer4) c.4948del (p.Glu1650LysfsTer4) c.1272del c.1459del (p.Glu487LysfsTer4) c.*4668del (n.*4668del) n.38del c.1198del (p.Glu400LysfsTer4) c.5-7078del (n.5-7078del) c.358del (p.Glu120LysfsTer4) c.-98-20839del (n.-98-20839del) n.5021del n.5062del | ClinVar dbSNP |
17 | g.43071031_43071043del | CA003059 | BRCA1 | c.4870_4882del (p.Tyr1624LysfsTer4) c.4873_4885del (p.Tyr1625LysfsTer4) c.4747_4759del (p.Tyr1583LysfsTer4) c.4867_4879del (p.Tyr1623LysfsTer4) c.4795_4807del (p.Tyr1599LysfsTer4) c.1561_1573del (p.Tyr521LysfsTer4) c.1423_1435del (p.Tyr475LysfsTer4) c.3985_3997del (p.Tyr1329LysfsTer4) c.4750_4762del (p.Tyr1584LysfsTer4) c.4939_4951del (p.Tyr1647LysfsTer4) c.4732_4744del (p.Tyr1578LysfsTer4) c.1435_1447del (p.Tyr479LysfsTer4) c.1480_1492del (p.Tyr494LysfsTer4) c.4936_4948del (p.Tyr1646LysfsTer4) c.1260_1272del c.1447_1459del (p.Tyr483LysfsTer4) c.*4656_*4668del (n.*4656_*4668del) n.26_38del c.1186_1198del (p.Tyr396LysfsTer4) c.5-7090_5-7078del (n.5-7090_5-7078del) c.346_358del (p.Tyr116LysfsTer4) c.-98-20851_-98-20839del (n.-98-20851_-98-20839del) n.5009_5021del n.5050_5062del | ClinVar dbSNP |
17 | g.43071030C>A | CA003063 | BRCA1 | c.4881G>T (p.Met1627Ile) c.4884G>T (p.Met1628Ile) c.4758G>T (p.Met1586Ile) c.4878G>T (p.Met1626Ile) c.4806G>T (p.Met1602Ile) c.1572G>T (p.Met524Ile) c.1434G>T (p.Met478Ile) c.3996G>T (p.Met1332Ile) c.4761G>T (p.Met1587Ile) c.4950G>T (p.Met1650Ile) c.4743G>T (p.Met1581Ile) c.1446G>T (p.Met482Ile) c.1491G>T (p.Met497Ile) c.4947G>T (p.Met1649Ile) c.1271G>T c.1458G>T (p.Met486Ile) c.*4667G>T (n.*4667G>T) n.37G>T c.1197G>T (p.Met399Ile) c.5-7079G>T (n.5-7079G>T) c.357G>T (p.Met119Ile) c.-98-20840G>T (n.-98-20840G>T) n.5020G>T n.5061G>T | ClinVar dbSNP |
17 | g.43071030C= | CA2260772854 | BRCA1 | c.4881G= (p.Met1627=) c.4884G= (p.Met1628=) c.4758G= (p.Met1586=) c.4878G= (p.Met1626=) c.4806G= (p.Met1602=) c.1572G= (p.Met524=) c.1434G= (p.Met478=) c.3996G= (p.Met1332=) c.4761G= (p.Met1587=) c.4950G= (p.Met1650=) c.4743G= (p.Met1581=) c.1446G= (p.Met482=) c.1491G= (p.Met497=) c.4947G= (p.Met1649=) c.1271G= c.1458G= (p.Met486=) c.*4667G= (n.*4667G=) n.37G= c.1197G= (p.Met399=) c.5-7079G= (n.5-7079G=) c.357G= (p.Met119=) c.-98-20840G= (n.-98-20840G=) n.5020G= n.5061G= | |
17 | g.43071030C>G | CA10591760 | BRCA1 | c.4881G>C (p.Met1627Ile) c.4884G>C (p.Met1628Ile) c.4758G>C (p.Met1586Ile) c.4878G>C (p.Met1626Ile) c.4806G>C (p.Met1602Ile) c.1572G>C (p.Met524Ile) c.1434G>C (p.Met478Ile) c.3996G>C (p.Met1332Ile) c.4761G>C (p.Met1587Ile) c.4950G>C (p.Met1650Ile) c.4743G>C (p.Met1581Ile) c.1446G>C (p.Met482Ile) c.1491G>C (p.Met497Ile) c.4947G>C (p.Met1649Ile) c.1271G>C c.1458G>C (p.Met486Ile) c.*4667G>C (n.*4667G>C) n.37G>C c.1197G>C (p.Met399Ile) c.5-7079G>C (n.5-7079G>C) c.357G>C (p.Met119Ile) c.-98-20840G>C (n.-98-20840G>C) n.5020G>C n.5061G>C | dbSNP |
17 | g.43071030C>T | CA10591761 | BRCA1 | c.4881G>A (p.Met1627Ile) c.4884G>A (p.Met1628Ile) c.4758G>A (p.Met1586Ile) c.4878G>A (p.Met1626Ile) c.4806G>A (p.Met1602Ile) c.1572G>A (p.Met524Ile) c.1434G>A (p.Met478Ile) c.3996G>A (p.Met1332Ile) c.4761G>A (p.Met1587Ile) c.4950G>A (p.Met1650Ile) c.4743G>A (p.Met1581Ile) c.1446G>A (p.Met482Ile) c.1491G>A (p.Met497Ile) c.4947G>A (p.Met1649Ile) c.1271G>A c.1458G>A (p.Met486Ile) c.*4667G>A (n.*4667G>A) n.37G>A c.1197G>A (p.Met399Ile) c.5-7079G>A (n.5-7079G>A) c.357G>A (p.Met119Ile) c.-98-20840G>A (n.-98-20840G>A) n.5020G>A n.5061G>A | ClinVar dbSNP |
17 | g.43071031del | CA2697559920 | BRCA1 | c.4880del (p.Met1627ArgfsTer5) c.4883del (p.Met1628ArgfsTer5) c.4757del (p.Met1586ArgfsTer5) c.4877del (p.Met1626ArgfsTer5) c.4805del (p.Met1602ArgfsTer5) c.1571del (p.Met524ArgfsTer5) c.1433del (p.Met478ArgfsTer5) c.3995del (p.Met1332ArgfsTer5) c.4760del (p.Met1587ArgfsTer5) c.4949del (p.Met1650ArgfsTer5) c.4742del (p.Met1581ArgfsTer5) c.1445del (p.Met482ArgfsTer5) c.1490del (p.Met497ArgfsTer5) c.4946del (p.Met1649ArgfsTer5) c.1270del c.1457del (p.Met486ArgfsTer5) c.*4666del (n.*4666del) n.36del c.1196del (p.Met399ArgfsTer5) c.5-7080del (n.5-7080del) c.356del (p.Met119ArgfsTer5) c.-98-20841del (n.-98-20841del) n.5019del n.5060del | ClinVar |
17 | g.43071031A= | CA2260772855 | BRCA1 | c.4880T= (p.Met1627=) c.4883T= (p.Met1628=) c.4757T= (p.Met1586=) c.4877T= (p.Met1626=) c.4805T= (p.Met1602=) c.1571T= (p.Met524=) c.1433T= (p.Met478=) c.3995T= (p.Met1332=) c.4760T= (p.Met1587=) c.4949T= (p.Met1650=) c.4742T= (p.Met1581=) c.1445T= (p.Met482=) c.1490T= (p.Met497=) c.4946T= (p.Met1649=) c.1270T= c.1457T= (p.Met486=) c.*4666T= (n.*4666T=) n.36T= c.1196T= (p.Met399=) c.5-7080T= (n.5-7080T=) c.356T= (p.Met119=) c.-98-20841T= (n.-98-20841T=) n.5019T= n.5060T= | |
17 | g.43071031A>C | CA10591762 | BRCA1 | c.4880T>G (p.Met1627Arg) c.4883T>G (p.Met1628Arg) c.4757T>G (p.Met1586Arg) c.4877T>G (p.Met1626Arg) c.4805T>G (p.Met1602Arg) c.1571T>G (p.Met524Arg) c.1433T>G (p.Met478Arg) c.3995T>G (p.Met1332Arg) c.4760T>G (p.Met1587Arg) c.4949T>G (p.Met1650Arg) c.4742T>G (p.Met1581Arg) c.1445T>G (p.Met482Arg) c.1490T>G (p.Met497Arg) c.4946T>G (p.Met1649Arg) c.1270T>G c.1457T>G (p.Met486Arg) c.*4666T>G (n.*4666T>G) n.36T>G c.1196T>G (p.Met399Arg) c.5-7080T>G (n.5-7080T>G) c.356T>G (p.Met119Arg) c.-98-20841T>G (n.-98-20841T>G) n.5019T>G n.5060T>G | dbSNP |
17 | g.43071031A>G | CA003062 | BRCA1 | c.4880T>C (p.Met1627Thr) c.4883T>C (p.Met1628Thr) c.4757T>C (p.Met1586Thr) c.4877T>C (p.Met1626Thr) c.4805T>C (p.Met1602Thr) c.1571T>C (p.Met524Thr) c.1433T>C (p.Met478Thr) c.3995T>C (p.Met1332Thr) c.4760T>C (p.Met1587Thr) c.4949T>C (p.Met1650Thr) c.4742T>C (p.Met1581Thr) c.1445T>C (p.Met482Thr) c.1490T>C (p.Met497Thr) c.4946T>C (p.Met1649Thr) c.1270T>C c.1457T>C (p.Met486Thr) c.*4666T>C (n.*4666T>C) n.36T>C c.1196T>C (p.Met399Thr) c.5-7080T>C (n.5-7080T>C) c.356T>C (p.Met119Thr) c.-98-20841T>C (n.-98-20841T>C) n.5019T>C n.5060T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071031A>T | CA10591763 | BRCA1 | c.4880T>A (p.Met1627Lys) c.4883T>A (p.Met1628Lys) c.4757T>A (p.Met1586Lys) c.4877T>A (p.Met1626Lys) c.4805T>A (p.Met1602Lys) c.1571T>A (p.Met524Lys) c.1433T>A (p.Met478Lys) c.3995T>A (p.Met1332Lys) c.4760T>A (p.Met1587Lys) c.4949T>A (p.Met1650Lys) c.4742T>A (p.Met1581Lys) c.1445T>A (p.Met482Lys) c.1490T>A (p.Met497Lys) c.4946T>A (p.Met1649Lys) c.1270T>A c.1457T>A (p.Met486Lys) c.*4666T>A (n.*4666T>A) n.36T>A c.1196T>A (p.Met399Lys) c.5-7080T>A (n.5-7080T>A) c.356T>A (p.Met119Lys) c.-98-20841T>A (n.-98-20841T>A) n.5019T>A n.5060T>A | ClinVar dbSNP |
17 | g.43071032T>A | CA10591764 | BRCA1 | c.4879A>T (p.Met1627Leu) c.4882A>T (p.Met1628Leu) c.4756A>T (p.Met1586Leu) c.4876A>T (p.Met1626Leu) c.4804A>T (p.Met1602Leu) c.1570A>T (p.Met524Leu) c.1432A>T (p.Met478Leu) c.3994A>T (p.Met1332Leu) c.4759A>T (p.Met1587Leu) c.4948A>T (p.Met1650Leu) c.4741A>T (p.Met1581Leu) c.1444A>T (p.Met482Leu) c.1489A>T (p.Met497Leu) c.4945A>T (p.Met1649Leu) c.1269A>T c.1456A>T (p.Met486Leu) c.*4665A>T (n.*4665A>T) n.35A>T c.1195A>T (p.Met399Leu) c.5-7081A>T (n.5-7081A>T) c.355A>T (p.Met119Leu) c.-98-20842A>T (n.-98-20842A>T) n.5018A>T n.5059A>T | dbSNP |
17 | g.43071032T>C | CA003061 | BRCA1 | c.4879A>G (p.Met1627Val) c.4882A>G (p.Met1628Val) c.4756A>G (p.Met1586Val) c.4876A>G (p.Met1626Val) c.4804A>G (p.Met1602Val) c.1570A>G (p.Met524Val) c.1432A>G (p.Met478Val) c.3994A>G (p.Met1332Val) c.4759A>G (p.Met1587Val) c.4948A>G (p.Met1650Val) c.4741A>G (p.Met1581Val) c.1444A>G (p.Met482Val) c.1489A>G (p.Met497Val) c.4945A>G (p.Met1649Val) c.1269A>G c.1456A>G (p.Met486Val) c.*4665A>G (n.*4665A>G) n.35A>G c.1195A>G (p.Met399Val) c.5-7081A>G (n.5-7081A>G) c.355A>G (p.Met119Val) c.-98-20842A>G (n.-98-20842A>G) n.5018A>G n.5059A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071032T>G | CA10591765 | BRCA1 | c.4879A>C (p.Met1627Leu) c.4882A>C (p.Met1628Leu) c.4756A>C (p.Met1586Leu) c.4876A>C (p.Met1626Leu) c.4804A>C (p.Met1602Leu) c.1570A>C (p.Met524Leu) c.1432A>C (p.Met478Leu) c.3994A>C (p.Met1332Leu) c.4759A>C (p.Met1587Leu) c.4948A>C (p.Met1650Leu) c.4741A>C (p.Met1581Leu) c.1444A>C (p.Met482Leu) c.1489A>C (p.Met497Leu) c.4945A>C (p.Met1649Leu) c.1269A>C c.1456A>C (p.Met486Leu) c.*4665A>C (n.*4665A>C) n.35A>C c.1195A>C (p.Met399Leu) c.5-7081A>C (n.5-7081A>C) c.355A>C (p.Met119Leu) c.-98-20842A>C (n.-98-20842A>C) n.5018A>C n.5059A>C | dbSNP |
17 | g.43071032T= | CA2260772856 | BRCA1 | c.4879A= (p.Met1627=) c.4882A= (p.Met1628=) c.4756A= (p.Met1586=) c.4876A= (p.Met1626=) c.4804A= (p.Met1602=) c.1570A= (p.Met524=) c.1432A= (p.Met478=) c.3994A= (p.Met1332=) c.4759A= (p.Met1587=) c.4948A= (p.Met1650=) c.4741A= (p.Met1581=) c.1444A= (p.Met482=) c.1489A= (p.Met497=) c.4945A= (p.Met1649=) c.1269A= c.1456A= (p.Met486=) c.*4665A= (n.*4665A=) n.35A= c.1195A= (p.Met399=) c.5-7081A= (n.5-7081A=) c.355A= (p.Met119=) c.-98-20842A= (n.-98-20842A=) n.5018A= n.5059A= | |
17 | g.43071033T>A | CA500231753 | BRCA1 | c.4878A>T (p.Ala1626=) c.4881A>T (p.Ala1627=) c.4755A>T (p.Ala1585=) c.4875A>T (p.Ala1625=) c.4803A>T (p.Ala1601=) c.1569A>T (p.Ala523=) c.1431A>T (p.Ala477=) c.3993A>T (p.Ala1331=) c.4758A>T (p.Ala1586=) c.4947A>T (p.Ala1649=) c.4740A>T (p.Ala1580=) c.1443A>T (p.Ala481=) c.1488A>T (p.Ala496=) c.4944A>T (p.Ala1648=) c.1268A>T c.1455A>T (p.Ala485=) c.*4664A>T (n.*4664A>T) n.34A>T c.1194A>T (p.Ala398=) c.5-7082A>T (n.5-7082A>T) c.354A>T (p.Ala118=) c.-98-20843A>T (n.-98-20843A>T) n.5017A>T n.5058A>T | dbSNP |
17 | g.43071033T>C | CA500231751 | BRCA1 | c.4878A>G (p.Ala1626=) c.4881A>G (p.Ala1627=) c.4755A>G (p.Ala1585=) c.4875A>G (p.Ala1625=) c.4803A>G (p.Ala1601=) c.1569A>G (p.Ala523=) c.1431A>G (p.Ala477=) c.3993A>G (p.Ala1331=) c.4758A>G (p.Ala1586=) c.4947A>G (p.Ala1649=) c.4740A>G (p.Ala1580=) c.1443A>G (p.Ala481=) c.1488A>G (p.Ala496=) c.4944A>G (p.Ala1648=) c.1268A>G c.1455A>G (p.Ala485=) c.*4664A>G (n.*4664A>G) n.34A>G c.1194A>G (p.Ala398=) c.5-7082A>G (n.5-7082A>G) c.354A>G (p.Ala118=) c.-98-20843A>G (n.-98-20843A>G) n.5017A>G n.5058A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43071033T>G | CA500231752 | BRCA1 | c.4878A>C (p.Ala1626=) c.4881A>C (p.Ala1627=) c.4755A>C (p.Ala1585=) c.4875A>C (p.Ala1625=) c.4803A>C (p.Ala1601=) c.1569A>C (p.Ala523=) c.1431A>C (p.Ala477=) c.3993A>C (p.Ala1331=) c.4758A>C (p.Ala1586=) c.4947A>C (p.Ala1649=) c.4740A>C (p.Ala1580=) c.1443A>C (p.Ala481=) c.1488A>C (p.Ala496=) c.4944A>C (p.Ala1648=) c.1268A>C c.1455A>C (p.Ala485=) c.*4664A>C (n.*4664A>C) n.34A>C c.1194A>C (p.Ala398=) c.5-7082A>C (n.5-7082A>C) c.354A>C (p.Ala118=) c.-98-20843A>C (n.-98-20843A>C) n.5017A>C n.5058A>C | |
17 | g.43071033T= | CA2260772857 | BRCA1 | c.4878A= (p.Ala1626=) c.4881A= (p.Ala1627=) c.4755A= (p.Ala1585=) c.4875A= (p.Ala1625=) c.4803A= (p.Ala1601=) c.1569A= (p.Ala523=) c.1431A= (p.Ala477=) c.3993A= (p.Ala1331=) c.4758A= (p.Ala1586=) c.4947A= (p.Ala1649=) c.4740A= (p.Ala1580=) c.1443A= (p.Ala481=) c.1488A= (p.Ala496=) c.4944A= (p.Ala1648=) c.1268A= c.1455A= (p.Ala485=) c.*4664A= (n.*4664A=) n.34A= c.1194A= (p.Ala398=) c.5-7082A= (n.5-7082A=) c.354A= (p.Ala118=) c.-98-20843A= (n.-98-20843A=) n.5017A= n.5058A= | |
17 | g.43071034G>A | CA053410 | BRCA1 | c.4877C>T (p.Ala1626Val) c.4880C>T (p.Ala1627Val) c.4754C>T (p.Ala1585Val) c.4874C>T (p.Ala1625Val) c.4802C>T (p.Ala1601Val) c.1568C>T (p.Ala523Val) c.1430C>T (p.Ala477Val) c.3992C>T (p.Ala1331Val) c.4757C>T (p.Ala1586Val) c.4946C>T (p.Ala1649Val) c.4739C>T (p.Ala1580Val) c.1442C>T (p.Ala481Val) c.1487C>T (p.Ala496Val) c.4943C>T (p.Ala1648Val) c.1267C>T c.1454C>T (p.Ala485Val) c.*4663C>T (n.*4663C>T) n.33C>T c.1193C>T (p.Ala398Val) c.5-7083C>T (n.5-7083C>T) c.353C>T (p.Ala118Val) c.-98-20844C>T (n.-98-20844C>T) n.5016C>T n.5057C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43071034G>C | CA10591766 | BRCA1 | c.4877C>G (p.Ala1626Gly) c.4880C>G (p.Ala1627Gly) c.4754C>G (p.Ala1585Gly) c.4874C>G (p.Ala1625Gly) c.4802C>G (p.Ala1601Gly) c.1568C>G (p.Ala523Gly) c.1430C>G (p.Ala477Gly) c.3992C>G (p.Ala1331Gly) c.4757C>G (p.Ala1586Gly) c.4946C>G (p.Ala1649Gly) c.4739C>G (p.Ala1580Gly) c.1442C>G (p.Ala481Gly) c.1487C>G (p.Ala496Gly) c.4943C>G (p.Ala1648Gly) c.1267C>G c.1454C>G (p.Ala485Gly) c.*4663C>G (n.*4663C>G) n.33C>G c.1193C>G (p.Ala398Gly) c.5-7083C>G (n.5-7083C>G) c.353C>G (p.Ala118Gly) c.-98-20844C>G (n.-98-20844C>G) n.5016C>G n.5057C>G | ClinVar dbSNP |
17 | g.43071034G= | CA2260772858 | BRCA1 | c.4877C= (p.Ala1626=) c.4880C= (p.Ala1627=) c.4754C= (p.Ala1585=) c.4874C= (p.Ala1625=) c.4802C= (p.Ala1601=) c.1568C= (p.Ala523=) c.1430C= (p.Ala477=) c.3992C= (p.Ala1331=) c.4757C= (p.Ala1586=) c.4946C= (p.Ala1649=) c.4739C= (p.Ala1580=) c.1442C= (p.Ala481=) c.1487C= (p.Ala496=) c.4943C= (p.Ala1648=) c.1267C= c.1454C= (p.Ala485=) c.*4663C= (n.*4663C=) n.33C= c.1193C= (p.Ala398=) c.5-7083C= (n.5-7083C=) c.353C= (p.Ala118=) c.-98-20844C= (n.-98-20844C=) n.5016C= n.5057C= | |
17 | g.43071034G>T | CA10591767 | BRCA1 | c.4877C>A (p.Ala1626Glu) c.4880C>A (p.Ala1627Glu) c.4754C>A (p.Ala1585Glu) c.4874C>A (p.Ala1625Glu) c.4802C>A (p.Ala1601Glu) c.1568C>A (p.Ala523Glu) c.1430C>A (p.Ala477Glu) c.3992C>A (p.Ala1331Glu) c.4757C>A (p.Ala1586Glu) c.4946C>A (p.Ala1649Glu) c.4739C>A (p.Ala1580Glu) c.1442C>A (p.Ala481Glu) c.1487C>A (p.Ala496Glu) c.4943C>A (p.Ala1648Glu) c.1267C>A c.1454C>A (p.Ala485Glu) c.*4663C>A (n.*4663C>A) n.33C>A c.1193C>A (p.Ala398Glu) c.5-7083C>A (n.5-7083C>A) c.353C>A (p.Ala118Glu) c.-98-20844C>A (n.-98-20844C>A) n.5016C>A n.5057C>A | dbSNP gnomAD v4 |
17 | g.43071034_43071041del | CA2499224391 | BRCA1 | c.4870_4877del (p.Tyr1624AsnfsTer?) c.4873_4880del (p.Tyr1625AsnfsTer?) c.4747_4754del (p.Tyr1583AsnfsTer?) c.4867_4874del (p.Tyr1623AsnfsTer?) c.4795_4802del (p.Tyr1599AsnfsTer?) c.1561_1568del (p.Tyr521AsnfsTer?) c.1423_1430del (p.Tyr475AsnfsTer?) c.3985_3992del (p.Tyr1329AsnfsTer?) c.4750_4757del (p.Tyr1584AsnfsTer?) c.4939_4946del (p.Tyr1647AsnfsTer?) c.4732_4739del (p.Tyr1578AsnfsTer?) c.1435_1442del (p.Tyr479AsnfsTer?) c.1480_1487del (p.Tyr494AsnfsTer?) c.4936_4943del (p.Tyr1646AsnfsTer?) c.1260_1267del c.1447_1454del (p.Tyr483AsnfsTer?) c.*4656_*4663del (n.*4656_*4663del) n.26_33del c.1186_1193del (p.Tyr396AsnfsTer?) c.5-7090_5-7083del (n.5-7090_5-7083del) c.346_353del (p.Tyr116AsnfsTer?) c.-98-20851_-98-20844del (n.-98-20851_-98-20844del) n.5009_5016del n.5050_5057del | |
17 | g.43071035C>A | CA10591768 | BRCA1 | c.4876G>T (p.Ala1626Ser) c.4879G>T (p.Ala1627Ser) c.4753G>T (p.Ala1585Ser) c.4873G>T (p.Ala1625Ser) c.4801G>T (p.Ala1601Ser) c.1567G>T (p.Ala523Ser) c.1429G>T (p.Ala477Ser) c.3991G>T (p.Ala1331Ser) c.4756G>T (p.Ala1586Ser) c.4945G>T (p.Ala1649Ser) c.4738G>T (p.Ala1580Ser) c.1441G>T (p.Ala481Ser) c.1486G>T (p.Ala496Ser) c.4942G>T (p.Ala1648Ser) c.1266G>T c.1453G>T (p.Ala485Ser) c.*4662G>T (n.*4662G>T) n.32G>T c.1192G>T (p.Ala398Ser) c.5-7084G>T (n.5-7084G>T) c.352G>T (p.Ala118Ser) c.-98-20845G>T (n.-98-20845G>T) n.5015G>T n.5056G>T | ClinVar dbSNP |
17 | g.43071035C= | CA2260772859 | BRCA1 | c.4876G= (p.Ala1626=) c.4879G= (p.Ala1627=) c.4753G= (p.Ala1585=) c.4873G= (p.Ala1625=) c.4801G= (p.Ala1601=) c.1567G= (p.Ala523=) c.1429G= (p.Ala477=) c.3991G= (p.Ala1331=) c.4756G= (p.Ala1586=) c.4945G= (p.Ala1649=) c.4738G= (p.Ala1580=) c.1441G= (p.Ala481=) c.1486G= (p.Ala496=) c.4942G= (p.Ala1648=) c.1266G= c.1453G= (p.Ala485=) c.*4662G= (n.*4662G=) n.32G= c.1192G= (p.Ala398=) c.5-7084G= (n.5-7084G=) c.352G= (p.Ala118=) c.-98-20845G= (n.-98-20845G=) n.5015G= n.5056G= | |
17 | g.43071035C>G | CA10591769 | BRCA1 | c.4876G>C (p.Ala1626Pro) c.4879G>C (p.Ala1627Pro) c.4753G>C (p.Ala1585Pro) c.4873G>C (p.Ala1625Pro) c.4801G>C (p.Ala1601Pro) c.1567G>C (p.Ala523Pro) c.1429G>C (p.Ala477Pro) c.3991G>C (p.Ala1331Pro) c.4756G>C (p.Ala1586Pro) c.4945G>C (p.Ala1649Pro) c.4738G>C (p.Ala1580Pro) c.1441G>C (p.Ala481Pro) c.1486G>C (p.Ala496Pro) c.4942G>C (p.Ala1648Pro) c.1266G>C c.1453G>C (p.Ala485Pro) c.*4662G>C (n.*4662G>C) n.32G>C c.1192G>C (p.Ala398Pro) c.5-7084G>C (n.5-7084G>C) c.352G>C (p.Ala118Pro) c.-98-20845G>C (n.-98-20845G>C) n.5015G>C n.5056G>C | dbSNP |
17 | g.43071035C>T | CA053401 | BRCA1 | c.4876G>A (p.Ala1626Thr) c.4879G>A (p.Ala1627Thr) c.4753G>A (p.Ala1585Thr) c.4873G>A (p.Ala1625Thr) c.4801G>A (p.Ala1601Thr) c.1567G>A (p.Ala523Thr) c.1429G>A (p.Ala477Thr) c.3991G>A (p.Ala1331Thr) c.4756G>A (p.Ala1586Thr) c.4945G>A (p.Ala1649Thr) c.4738G>A (p.Ala1580Thr) c.1441G>A (p.Ala481Thr) c.1486G>A (p.Ala496Thr) c.4942G>A (p.Ala1648Thr) c.1266G>A c.1453G>A (p.Ala485Thr) c.*4662G>A (n.*4662G>A) n.32G>A c.1192G>A (p.Ala398Thr) c.5-7084G>A (n.5-7084G>A) c.352G>A (p.Ala118Thr) c.-98-20845G>A (n.-98-20845G>A) n.5015G>A n.5056G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43071036del | CA2573154030 | BRCA1 | c.4875del (p.Asn1625LysfsTer7) c.4878del (p.Asn1626LysfsTer7) c.4752del (p.Asn1584LysfsTer7) c.4872del (p.Asn1624LysfsTer7) c.4800del (p.Asn1600LysfsTer7) c.1566del (p.Asn522LysfsTer7) c.1428del (p.Asn476LysfsTer7) c.3990del (p.Asn1330LysfsTer7) c.4755del (p.Asn1585LysfsTer7) c.4944del (p.Asn1648LysfsTer7) c.4737del (p.Asn1579LysfsTer7) c.1440del (p.Asn480LysfsTer7) c.1485del (p.Asn495LysfsTer7) c.4941del (p.Asn1647LysfsTer7) c.1265del c.1452del (p.Asn484LysfsTer7) c.*4661del (n.*4661del) n.31del c.1191del (p.Asn397LysfsTer7) c.5-7085del (n.5-7085del) c.351del (p.Asn117LysfsTer7) c.-98-20846del (n.-98-20846del) n.5014del n.5055del | ClinVar dbSNP |
17 | g.43071036A= | CA2260772861 | BRCA1 | c.4875T= (p.Asn1625=) c.4878T= (p.Asn1626=) c.4752T= (p.Asn1584=) c.4872T= (p.Asn1624=) c.4800T= (p.Asn1600=) c.1566T= (p.Asn522=) c.1428T= (p.Asn476=) c.3990T= (p.Asn1330=) c.4755T= (p.Asn1585=) c.4944T= (p.Asn1648=) c.4737T= (p.Asn1579=) c.1440T= (p.Asn480=) c.1485T= (p.Asn495=) c.4941T= (p.Asn1647=) c.1265T= c.1452T= (p.Asn484=) c.*4661T= (n.*4661T=) n.31T= c.1191T= (p.Asn397=) c.5-7085T= (n.5-7085T=) c.351T= (p.Asn117=) c.-98-20846T= (n.-98-20846T=) n.5014T= n.5055T= | |
17 | g.43071036A>C | CA10591770 | BRCA1 | c.4875T>G (p.Asn1625Lys) c.4878T>G (p.Asn1626Lys) c.4752T>G (p.Asn1584Lys) c.4872T>G (p.Asn1624Lys) c.4800T>G (p.Asn1600Lys) c.1566T>G (p.Asn522Lys) c.1428T>G (p.Asn476Lys) c.3990T>G (p.Asn1330Lys) c.4755T>G (p.Asn1585Lys) c.4944T>G (p.Asn1648Lys) c.4737T>G (p.Asn1579Lys) c.1440T>G (p.Asn480Lys) c.1485T>G (p.Asn495Lys) c.4941T>G (p.Asn1647Lys) c.1265T>G c.1452T>G (p.Asn484Lys) c.*4661T>G (n.*4661T>G) n.31T>G c.1191T>G (p.Asn397Lys) c.5-7085T>G (n.5-7085T>G) c.351T>G (p.Asn117Lys) c.-98-20846T>G (n.-98-20846T>G) n.5014T>G n.5055T>G | |
17 | g.43071036A>G | CA500231756 | BRCA1 | c.4875T>C (p.Asn1625=) c.4878T>C (p.Asn1626=) c.4752T>C (p.Asn1584=) c.4872T>C (p.Asn1624=) c.4800T>C (p.Asn1600=) c.1566T>C (p.Asn522=) c.1428T>C (p.Asn476=) c.3990T>C (p.Asn1330=) c.4755T>C (p.Asn1585=) c.4944T>C (p.Asn1648=) c.4737T>C (p.Asn1579=) c.1440T>C (p.Asn480=) c.1485T>C (p.Asn495=) c.4941T>C (p.Asn1647=) c.1265T>C c.1452T>C (p.Asn484=) c.*4661T>C (n.*4661T>C) n.31T>C c.1191T>C (p.Asn397=) c.5-7085T>C (n.5-7085T>C) c.351T>C (p.Asn117=) c.-98-20846T>C (n.-98-20846T>C) n.5014T>C n.5055T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43071036A>T | CA10591771 | BRCA1 | c.4875T>A (p.Asn1625Lys) c.4878T>A (p.Asn1626Lys) c.4752T>A (p.Asn1584Lys) c.4872T>A (p.Asn1624Lys) c.4800T>A (p.Asn1600Lys) c.1566T>A (p.Asn522Lys) c.1428T>A (p.Asn476Lys) c.3990T>A (p.Asn1330Lys) c.4755T>A (p.Asn1585Lys) c.4944T>A (p.Asn1648Lys) c.4737T>A (p.Asn1579Lys) c.1440T>A (p.Asn480Lys) c.1485T>A (p.Asn495Lys) c.4941T>A (p.Asn1647Lys) c.1265T>A c.1452T>A (p.Asn484Lys) c.*4661T>A (n.*4661T>A) n.31T>A c.1191T>A (p.Asn397Lys) c.5-7085T>A (n.5-7085T>A) c.351T>A (p.Asn117Lys) c.-98-20846T>A (n.-98-20846T>A) n.5014T>A n.5055T>A | |
17 | g.43071036dup | CA10589640 | BRCA1 | c.4875dup (p.Ala1626CysfsTer?) c.4878dup (p.Ala1627CysfsTer?) c.4752dup (p.Ala1585CysfsTer?) c.4872dup (p.Ala1625CysfsTer?) c.4800dup (p.Ala1601CysfsTer?) c.1566dup (p.Ala523CysfsTer?) c.1428dup (p.Ala477CysfsTer?) c.3990dup (p.Ala1331CysfsTer?) c.4755dup (p.Ala1586CysfsTer?) c.4944dup (p.Ala1649CysfsTer?) c.4737dup (p.Ala1580CysfsTer?) c.1440dup (p.Ala481CysfsTer?) c.1485dup (p.Ala496CysfsTer?) c.4941dup (p.Ala1648CysfsTer?) c.1265dup c.1452dup (p.Ala485CysfsTer?) c.*4661dup (n.*4661dup) n.31dup c.1191dup (p.Ala398CysfsTer?) c.5-7085dup (n.5-7085dup) c.351dup (p.Ala118CysfsTer?) c.-98-20846dup (n.-98-20846dup) n.5014dup n.5055dup | ClinVar dbSNP |
17 | g.43071036_43071037delinsAT | CA2260772860 | BRCA1 | c.4874_4875delinsAT (p.Asn1625=) c.4877_4878delinsAT (p.Asn1626=) c.4751_4752delinsAT (p.Asn1584=) c.4871_4872delinsAT (p.Asn1624=) c.4799_4800delinsAT (p.Asn1600=) c.1565_1566delinsAT (p.Asn522=) c.1427_1428delinsAT (p.Asn476=) c.3989_3990delinsAT (p.Asn1330=) c.4754_4755delinsAT (p.Asn1585=) c.4943_4944delinsAT (p.Asn1648=) c.4736_4737delinsAT (p.Asn1579=) c.1439_1440delinsAT (p.Asn480=) c.1484_1485delinsAT (p.Asn495=) c.4940_4941delinsAT (p.Asn1647=) c.1264_1265delinsAT c.1451_1452delinsAT (p.Asn484=) c.*4660_*4661delinsAT (n.*4660_*4661delinsAT) n.30_31delinsAT c.1190_1191delinsAT (p.Asn397=) c.5-7086_5-7085delinsAT (n.5-7086_5-7085delinsAT) c.350_351delinsAT (p.Asn117=) c.-98-20847_-98-20846delinsAT (n.-98-20847_-98-20846delinsAT) n.5013_5014delinsAT n.5054_5055delinsAT | |
17 | g.43071037T>A | CA10591772 | BRCA1 | c.4874A>T (p.Asn1625Ile) c.4877A>T (p.Asn1626Ile) c.4751A>T (p.Asn1584Ile) c.4871A>T (p.Asn1624Ile) c.4799A>T (p.Asn1600Ile) c.1565A>T (p.Asn522Ile) c.1427A>T (p.Asn476Ile) c.3989A>T (p.Asn1330Ile) c.4754A>T (p.Asn1585Ile) c.4943A>T (p.Asn1648Ile) c.4736A>T (p.Asn1579Ile) c.1439A>T (p.Asn480Ile) c.1484A>T (p.Asn495Ile) c.4940A>T (p.Asn1647Ile) c.1264A>T c.1451A>T (p.Asn484Ile) c.*4660A>T (n.*4660A>T) n.30A>T c.1190A>T (p.Asn397Ile) c.5-7086A>T (n.5-7086A>T) c.350A>T (p.Asn117Ile) c.-98-20847A>T (n.-98-20847A>T) n.5013A>T n.5054A>T | dbSNP |
17 | g.43071037T>C | CA10591773 | BRCA1 | c.4874A>G (p.Asn1625Ser) c.4877A>G (p.Asn1626Ser) c.4751A>G (p.Asn1584Ser) c.4871A>G (p.Asn1624Ser) c.4799A>G (p.Asn1600Ser) c.1565A>G (p.Asn522Ser) c.1427A>G (p.Asn476Ser) c.3989A>G (p.Asn1330Ser) c.4754A>G (p.Asn1585Ser) c.4943A>G (p.Asn1648Ser) c.4736A>G (p.Asn1579Ser) c.1439A>G (p.Asn480Ser) c.1484A>G (p.Asn495Ser) c.4940A>G (p.Asn1647Ser) c.1264A>G c.1451A>G (p.Asn484Ser) c.*4660A>G (n.*4660A>G) n.30A>G c.1190A>G (p.Asn397Ser) c.5-7086A>G (n.5-7086A>G) c.350A>G (p.Asn117Ser) c.-98-20847A>G (n.-98-20847A>G) n.5013A>G n.5054A>G | gnomAD v4 |
17 | g.43071037T>G | CA10591774 | BRCA1 | c.4874A>C (p.Asn1625Thr) c.4877A>C (p.Asn1626Thr) c.4751A>C (p.Asn1584Thr) c.4871A>C (p.Asn1624Thr) c.4799A>C (p.Asn1600Thr) c.1565A>C (p.Asn522Thr) c.1427A>C (p.Asn476Thr) c.3989A>C (p.Asn1330Thr) c.4754A>C (p.Asn1585Thr) c.4943A>C (p.Asn1648Thr) c.4736A>C (p.Asn1579Thr) c.1439A>C (p.Asn480Thr) c.1484A>C (p.Asn495Thr) c.4940A>C (p.Asn1647Thr) c.1264A>C c.1451A>C (p.Asn484Thr) c.*4660A>C (n.*4660A>C) n.30A>C c.1190A>C (p.Asn397Thr) c.5-7086A>C (n.5-7086A>C) c.350A>C (p.Asn117Thr) c.-98-20847A>C (n.-98-20847A>C) n.5013A>C n.5054A>C | |
17 | g.43071038del | CA10589641 | BRCA1 | c.4874del (p.Asn1625MetfsTer7) c.4877del (p.Asn1626MetfsTer7) c.4751del (p.Asn1584MetfsTer7) c.4871del (p.Asn1624MetfsTer7) c.4799del (p.Asn1600MetfsTer7) c.1565del (p.Asn522MetfsTer7) c.1427del (p.Asn476MetfsTer7) c.3989del (p.Asn1330MetfsTer7) c.4754del (p.Asn1585MetfsTer7) c.4943del (p.Asn1648MetfsTer7) c.4736del (p.Asn1579MetfsTer7) c.1439del (p.Asn480MetfsTer7) c.1484del (p.Asn495MetfsTer7) c.4940del (p.Asn1647MetfsTer7) c.1264del c.1451del (p.Asn484MetfsTer7) c.*4660del (n.*4660del) n.30del c.1190del (p.Asn397MetfsTer7) c.5-7086del (n.5-7086del) c.350del (p.Asn117MetfsTer7) c.-98-20847del (n.-98-20847del) n.5013del n.5054del | ClinVar dbSNP |
17 | g.43071038T>A | CA10591775 | BRCA1 | c.4873A>T (p.Asn1625Tyr) c.4876A>T (p.Asn1626Tyr) c.4750A>T (p.Asn1584Tyr) c.4870A>T (p.Asn1624Tyr) c.4798A>T (p.Asn1600Tyr) c.1564A>T (p.Asn522Tyr) c.1426A>T (p.Asn476Tyr) c.3988A>T (p.Asn1330Tyr) c.4753A>T (p.Asn1585Tyr) c.4942A>T (p.Asn1648Tyr) c.4735A>T (p.Asn1579Tyr) c.1438A>T (p.Asn480Tyr) c.1483A>T (p.Asn495Tyr) c.4939A>T (p.Asn1647Tyr) c.1263A>T c.1450A>T (p.Asn484Tyr) c.*4659A>T (n.*4659A>T) n.29A>T c.1189A>T (p.Asn397Tyr) c.5-7087A>T (n.5-7087A>T) c.349A>T (p.Asn117Tyr) c.-98-20848A>T (n.-98-20848A>T) n.5012A>T n.5053A>T | dbSNP |
17 | g.43071038T>C | CA10591776 | BRCA1 | c.4873A>G (p.Asn1625Asp) c.4876A>G (p.Asn1626Asp) c.4750A>G (p.Asn1584Asp) c.4870A>G (p.Asn1624Asp) c.4798A>G (p.Asn1600Asp) c.1564A>G (p.Asn522Asp) c.1426A>G (p.Asn476Asp) c.3988A>G (p.Asn1330Asp) c.4753A>G (p.Asn1585Asp) c.4942A>G (p.Asn1648Asp) c.4735A>G (p.Asn1579Asp) c.1438A>G (p.Asn480Asp) c.1483A>G (p.Asn495Asp) c.4939A>G (p.Asn1647Asp) c.1263A>G c.1450A>G (p.Asn484Asp) c.*4659A>G (n.*4659A>G) n.29A>G c.1189A>G (p.Asn397Asp) c.5-7087A>G (n.5-7087A>G) c.349A>G (p.Asn117Asp) c.-98-20848A>G (n.-98-20848A>G) n.5012A>G n.5053A>G | ClinVar |
17 | g.43071038T>G | CA10591777 | BRCA1 | c.4873A>C (p.Asn1625His) c.4876A>C (p.Asn1626His) c.4750A>C (p.Asn1584His) c.4870A>C (p.Asn1624His) c.4798A>C (p.Asn1600His) c.1564A>C (p.Asn522His) c.1426A>C (p.Asn476His) c.3988A>C (p.Asn1330His) c.4753A>C (p.Asn1585His) c.4942A>C (p.Asn1648His) c.4735A>C (p.Asn1579His) c.1438A>C (p.Asn480His) c.1483A>C (p.Asn495His) c.4939A>C (p.Asn1647His) c.1263A>C c.1450A>C (p.Asn484His) c.*4659A>C (n.*4659A>C) n.29A>C c.1189A>C (p.Asn397His) c.5-7087A>C (n.5-7087A>C) c.349A>C (p.Asn117His) c.-98-20848A>C (n.-98-20848A>C) n.5012A>C n.5053A>C | |
17 | g.43071038_43071041dup | CA2695225906 | BRCA1 | c.4870_4873dup (p.Asn1625IlefsTer2) c.4873_4876dup (p.Asn1626IlefsTer2) c.4747_4750dup (p.Asn1584IlefsTer2) c.4867_4870dup (p.Asn1624IlefsTer2) c.4795_4798dup (p.Asn1600IlefsTer2) c.1561_1564dup (p.Asn522IlefsTer2) c.1423_1426dup (p.Asn476IlefsTer2) c.3985_3988dup (p.Asn1330IlefsTer2) c.4750_4753dup (p.Asn1585IlefsTer2) c.4939_4942dup (p.Asn1648IlefsTer2) c.4732_4735dup (p.Asn1579IlefsTer2) c.1435_1438dup (p.Asn480IlefsTer2) c.1480_1483dup (p.Asn495IlefsTer2) c.4936_4939dup (p.Asn1647IlefsTer2) c.1260_1263dup c.1447_1450dup (p.Asn484IlefsTer2) c.*4656_*4659dup (n.*4656_*4659dup) n.26_29dup c.1186_1189dup (p.Asn397IlefsTer2) c.5-7090_5-7087dup (n.5-7090_5-7087dup) c.346_349dup (p.Asn117IlefsTer2) c.-98-20851_-98-20848dup (n.-98-20851_-98-20848dup) n.5009_5012dup n.5050_5053dup | |
17 | g.43071039A= | CA2260772862 | BRCA1 | c.4872T= (p.Tyr1624=) c.4875T= (p.Tyr1625=) c.4749T= (p.Tyr1583=) c.4869T= (p.Tyr1623=) c.4797T= (p.Tyr1599=) c.1563T= (p.Tyr521=) c.1425T= (p.Tyr475=) c.3987T= (p.Tyr1329=) c.4752T= (p.Tyr1584=) c.4941T= (p.Tyr1647=) c.4734T= (p.Tyr1578=) c.1437T= (p.Tyr479=) c.1482T= (p.Tyr494=) c.4938T= (p.Tyr1646=) c.1262T= c.1449T= (p.Tyr483=) c.*4658T= (n.*4658T=) n.28T= c.1188T= (p.Tyr396=) c.5-7088T= (n.5-7088T=) c.348T= (p.Tyr116=) c.-98-20849T= (n.-98-20849T=) n.5011T= n.5052T= | |
17 | g.43071039A>C | CA10591778 | BRCA1 | c.4872T>G (p.Tyr1624Ter) c.4875T>G (p.Tyr1625Ter) c.4749T>G (p.Tyr1583Ter) c.4869T>G (p.Tyr1623Ter) c.4797T>G (p.Tyr1599Ter) c.1563T>G (p.Tyr521Ter) c.1425T>G (p.Tyr475Ter) c.3987T>G (p.Tyr1329Ter) c.4752T>G (p.Tyr1584Ter) c.4941T>G (p.Tyr1647Ter) c.4734T>G (p.Tyr1578Ter) c.1437T>G (p.Tyr479Ter) c.1482T>G (p.Tyr494Ter) c.4938T>G (p.Tyr1646Ter) c.1262T>G c.1449T>G (p.Tyr483Ter) c.*4658T>G (n.*4658T>G) n.28T>G c.1188T>G (p.Tyr396Ter) c.5-7088T>G (n.5-7088T>G) c.348T>G (p.Tyr116Ter) c.-98-20849T>G (n.-98-20849T>G) n.5011T>G n.5052T>G | ClinVar dbSNP |
17 | g.43071039A>G | CA500231761 | BRCA1 | c.4872T>C (p.Tyr1624=) c.4875T>C (p.Tyr1625=) c.4749T>C (p.Tyr1583=) c.4869T>C (p.Tyr1623=) c.4797T>C (p.Tyr1599=) c.1563T>C (p.Tyr521=) c.1425T>C (p.Tyr475=) c.3987T>C (p.Tyr1329=) c.4752T>C (p.Tyr1584=) c.4941T>C (p.Tyr1647=) c.4734T>C (p.Tyr1578=) c.1437T>C (p.Tyr479=) c.1482T>C (p.Tyr494=) c.4938T>C (p.Tyr1646=) c.1262T>C c.1449T>C (p.Tyr483=) c.*4658T>C (n.*4658T>C) n.28T>C c.1188T>C (p.Tyr396=) c.5-7088T>C (n.5-7088T>C) c.348T>C (p.Tyr116=) c.-98-20849T>C (n.-98-20849T>C) n.5011T>C n.5052T>C | |
17 | g.43071039A>T | CA10589642 | BRCA1 | c.4872T>A (p.Tyr1624Ter) c.4875T>A (p.Tyr1625Ter) c.4749T>A (p.Tyr1583Ter) c.4869T>A (p.Tyr1623Ter) c.4797T>A (p.Tyr1599Ter) c.1563T>A (p.Tyr521Ter) c.1425T>A (p.Tyr475Ter) c.3987T>A (p.Tyr1329Ter) c.4752T>A (p.Tyr1584Ter) c.4941T>A (p.Tyr1647Ter) c.4734T>A (p.Tyr1578Ter) c.1437T>A (p.Tyr479Ter) c.1482T>A (p.Tyr494Ter) c.4938T>A (p.Tyr1646Ter) c.1262T>A c.1449T>A (p.Tyr483Ter) c.*4658T>A (n.*4658T>A) n.28T>A c.1188T>A (p.Tyr396Ter) c.5-7088T>A (n.5-7088T>A) c.348T>A (p.Tyr116Ter) c.-98-20849T>A (n.-98-20849T>A) n.5011T>A n.5052T>A | ClinVar dbSNP |
17 | g.43071040T>A | CA10591779 | BRCA1 | c.4871A>T (p.Tyr1624Phe) c.4874A>T (p.Tyr1625Phe) c.4748A>T (p.Tyr1583Phe) c.4868A>T (p.Tyr1623Phe) c.4796A>T (p.Tyr1599Phe) c.1562A>T (p.Tyr521Phe) c.1424A>T (p.Tyr475Phe) c.3986A>T (p.Tyr1329Phe) c.4751A>T (p.Tyr1584Phe) c.4940A>T (p.Tyr1647Phe) c.4733A>T (p.Tyr1578Phe) c.1436A>T (p.Tyr479Phe) c.1481A>T (p.Tyr494Phe) c.4937A>T (p.Tyr1646Phe) c.1261A>T c.1448A>T (p.Tyr483Phe) c.*4657A>T (n.*4657A>T) n.27A>T c.1187A>T (p.Tyr396Phe) c.5-7089A>T (n.5-7089A>T) c.347A>T (p.Tyr116Phe) c.-98-20850A>T (n.-98-20850A>T) n.5010A>T n.5051A>T | ClinVar dbSNP |
17 | g.43071040T>C | CA003060 | BRCA1 | c.4871A>G (p.Tyr1624Cys) c.4874A>G (p.Tyr1625Cys) c.4748A>G (p.Tyr1583Cys) c.4868A>G (p.Tyr1623Cys) c.4796A>G (p.Tyr1599Cys) c.1562A>G (p.Tyr521Cys) c.1424A>G (p.Tyr475Cys) c.3986A>G (p.Tyr1329Cys) c.4751A>G (p.Tyr1584Cys) c.4940A>G (p.Tyr1647Cys) c.4733A>G (p.Tyr1578Cys) c.1436A>G (p.Tyr479Cys) c.1481A>G (p.Tyr494Cys) c.4937A>G (p.Tyr1646Cys) c.1261A>G c.1448A>G (p.Tyr483Cys) c.*4657A>G (n.*4657A>G) n.27A>G c.1187A>G (p.Tyr396Cys) c.5-7089A>G (n.5-7089A>G) c.347A>G (p.Tyr116Cys) c.-98-20850A>G (n.-98-20850A>G) n.5010A>G n.5051A>G | ClinVar dbSNP |
17 | g.43071040T>G | CA10591780 | BRCA1 | c.4871A>C (p.Tyr1624Ser) c.4874A>C (p.Tyr1625Ser) c.4748A>C (p.Tyr1583Ser) c.4868A>C (p.Tyr1623Ser) c.4796A>C (p.Tyr1599Ser) c.1562A>C (p.Tyr521Ser) c.1424A>C (p.Tyr475Ser) c.3986A>C (p.Tyr1329Ser) c.4751A>C (p.Tyr1584Ser) c.4940A>C (p.Tyr1647Ser) c.4733A>C (p.Tyr1578Ser) c.1436A>C (p.Tyr479Ser) c.1481A>C (p.Tyr494Ser) c.4937A>C (p.Tyr1646Ser) c.1261A>C c.1448A>C (p.Tyr483Ser) c.*4657A>C (n.*4657A>C) n.27A>C c.1187A>C (p.Tyr396Ser) c.5-7089A>C (n.5-7089A>C) c.347A>C (p.Tyr116Ser) c.-98-20850A>C (n.-98-20850A>C) n.5010A>C n.5051A>C | dbSNP |
17 | g.43071040T= | CA2260772863 | BRCA1 | c.4871A= (p.Tyr1624=) c.4874A= (p.Tyr1625=) c.4748A= (p.Tyr1583=) c.4868A= (p.Tyr1623=) c.4796A= (p.Tyr1599=) c.1562A= (p.Tyr521=) c.1424A= (p.Tyr475=) c.3986A= (p.Tyr1329=) c.4751A= (p.Tyr1584=) c.4940A= (p.Tyr1647=) c.4733A= (p.Tyr1578=) c.1436A= (p.Tyr479=) c.1481A= (p.Tyr494=) c.4937A= (p.Tyr1646=) c.1261A= c.1448A= (p.Tyr483=) c.*4657A= (n.*4657A=) n.27A= c.1187A= (p.Tyr396=) c.5-7089A= (n.5-7089A=) c.347A= (p.Tyr116=) c.-98-20850A= (n.-98-20850A=) n.5010A= n.5051A= | |
17 | g.43071041A= | CA2260772864 | BRCA1 | c.4870T= (p.Tyr1624=) c.4873T= (p.Tyr1625=) c.4747T= (p.Tyr1583=) c.4867T= (p.Tyr1623=) c.4795T= (p.Tyr1599=) c.1561T= (p.Tyr521=) c.1423T= (p.Tyr475=) c.3985T= (p.Tyr1329=) c.4750T= (p.Tyr1584=) c.4939T= (p.Tyr1647=) c.4732T= (p.Tyr1578=) c.1435T= (p.Tyr479=) c.1480T= (p.Tyr494=) c.4936T= (p.Tyr1646=) c.1260T= c.1447T= (p.Tyr483=) c.*4656T= (n.*4656T=) n.26T= c.1186T= (p.Tyr396=) c.5-7090T= (n.5-7090T=) c.346T= (p.Tyr116=) c.-98-20851T= (n.-98-20851T=) n.5009T= n.5050T= | |
17 | g.43071041A>C | CA10591781 | BRCA1 | c.4870T>G (p.Tyr1624Asp) c.4873T>G (p.Tyr1625Asp) c.4747T>G (p.Tyr1583Asp) c.4867T>G (p.Tyr1623Asp) c.4795T>G (p.Tyr1599Asp) c.1561T>G (p.Tyr521Asp) c.1423T>G (p.Tyr475Asp) c.3985T>G (p.Tyr1329Asp) c.4750T>G (p.Tyr1584Asp) c.4939T>G (p.Tyr1647Asp) c.4732T>G (p.Tyr1578Asp) c.1435T>G (p.Tyr479Asp) c.1480T>G (p.Tyr494Asp) c.4936T>G (p.Tyr1646Asp) c.1260T>G c.1447T>G (p.Tyr483Asp) c.*4656T>G (n.*4656T>G) n.26T>G c.1186T>G (p.Tyr396Asp) c.5-7090T>G (n.5-7090T>G) c.346T>G (p.Tyr116Asp) c.-98-20851T>G (n.-98-20851T>G) n.5009T>G n.5050T>G | |
17 | g.43071041A>G | CA10591782 | BRCA1 | c.4870T>C (p.Tyr1624His) c.4873T>C (p.Tyr1625His) c.4747T>C (p.Tyr1583His) c.4867T>C (p.Tyr1623His) c.4795T>C (p.Tyr1599His) c.1561T>C (p.Tyr521His) c.1423T>C (p.Tyr475His) c.3985T>C (p.Tyr1329His) c.4750T>C (p.Tyr1584His) c.4939T>C (p.Tyr1647His) c.4732T>C (p.Tyr1578His) c.1435T>C (p.Tyr479His) c.1480T>C (p.Tyr494His) c.4936T>C (p.Tyr1646His) c.1260T>C c.1447T>C (p.Tyr483His) c.*4656T>C (n.*4656T>C) n.26T>C c.1186T>C (p.Tyr396His) c.5-7090T>C (n.5-7090T>C) c.346T>C (p.Tyr116His) c.-98-20851T>C (n.-98-20851T>C) n.5009T>C n.5050T>C | ClinVar |
17 | g.43071041A>T | CA10591783 | BRCA1 | c.4870T>A (p.Tyr1624Asn) c.4873T>A (p.Tyr1625Asn) c.4747T>A (p.Tyr1583Asn) c.4867T>A (p.Tyr1623Asn) c.4795T>A (p.Tyr1599Asn) c.1561T>A (p.Tyr521Asn) c.1423T>A (p.Tyr475Asn) c.3985T>A (p.Tyr1329Asn) c.4750T>A (p.Tyr1584Asn) c.4939T>A (p.Tyr1647Asn) c.4732T>A (p.Tyr1578Asn) c.1435T>A (p.Tyr479Asn) c.1480T>A (p.Tyr494Asn) c.4936T>A (p.Tyr1646Asn) c.1260T>A c.1447T>A (p.Tyr483Asn) c.*4656T>A (n.*4656T>A) n.26T>A c.1186T>A (p.Tyr396Asn) c.5-7090T>A (n.5-7090T>A) c.346T>A (p.Tyr116Asn) c.-98-20851T>A (n.-98-20851T>A) n.5009T>A n.5050T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43071042C>A | CA290829463 | BRCA1 | c.4869G>T (p.Gly1623=) c.4872G>T (p.Gly1624=) c.4746G>T (p.Gly1582=) c.4866G>T (p.Gly1622=) c.4794G>T (p.Gly1598=) c.1560G>T (p.Gly520=) c.1422G>T (p.Gly474=) c.3984G>T (p.Gly1328=) c.4749G>T (p.Gly1583=) c.4938G>T (p.Gly1646=) c.4731G>T (p.Gly1577=) c.1434G>T (p.Gly478=) c.1479G>T (p.Gly493=) c.4935G>T (p.Gly1645=) c.1259G>T c.1446G>T (p.Gly482=) c.*4655G>T (n.*4655G>T) n.25G>T c.1185G>T (p.Gly395=) c.5-7091G>T (n.5-7091G>T) c.345G>T (p.Gly115=) c.-98-20852G>T (n.-98-20852G>T) n.5008G>T n.5049G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43071042C= | CA2260772865 | BRCA1 | c.4869G= (p.Gly1623=) c.4872G= (p.Gly1624=) c.4746G= (p.Gly1582=) c.4866G= (p.Gly1622=) c.4794G= (p.Gly1598=) c.1560G= (p.Gly520=) c.1422G= (p.Gly474=) c.3984G= (p.Gly1328=) c.4749G= (p.Gly1583=) c.4938G= (p.Gly1646=) c.4731G= (p.Gly1577=) c.1434G= (p.Gly478=) c.1479G= (p.Gly493=) c.4935G= (p.Gly1645=) c.1259G= c.1446G= (p.Gly482=) c.*4655G= (n.*4655G=) n.25G= c.1185G= (p.Gly395=) c.5-7091G= (n.5-7091G=) c.345G= (p.Gly115=) c.-98-20852G= (n.-98-20852G=) n.5008G= n.5049G= | |
17 | g.43071042C>G | CA500231765 | BRCA1 | c.4869G>C (p.Gly1623=) c.4872G>C (p.Gly1624=) c.4746G>C (p.Gly1582=) c.4866G>C (p.Gly1622=) c.4794G>C (p.Gly1598=) c.1560G>C (p.Gly520=) c.1422G>C (p.Gly474=) c.3984G>C (p.Gly1328=) c.4749G>C (p.Gly1583=) c.4938G>C (p.Gly1646=) c.4731G>C (p.Gly1577=) c.1434G>C (p.Gly478=) c.1479G>C (p.Gly493=) c.4935G>C (p.Gly1645=) c.1259G>C c.1446G>C (p.Gly482=) c.*4655G>C (n.*4655G>C) n.25G>C c.1185G>C (p.Gly395=) c.5-7091G>C (n.5-7091G>C) c.345G>C (p.Gly115=) c.-98-20852G>C (n.-98-20852G>C) n.5008G>C n.5049G>C | dbSNP gnomAD v4 |
17 | g.43071042C>T | CA500231766 | BRCA1 | c.4869G>A (p.Gly1623=) c.4872G>A (p.Gly1624=) c.4746G>A (p.Gly1582=) c.4866G>A (p.Gly1622=) c.4794G>A (p.Gly1598=) c.1560G>A (p.Gly520=) c.1422G>A (p.Gly474=) c.3984G>A (p.Gly1328=) c.4749G>A (p.Gly1583=) c.4938G>A (p.Gly1646=) c.4731G>A (p.Gly1577=) c.1434G>A (p.Gly478=) c.1479G>A (p.Gly493=) c.4935G>A (p.Gly1645=) c.1259G>A c.1446G>A (p.Gly482=) c.*4655G>A (n.*4655G>A) n.25G>A c.1185G>A (p.Gly395=) c.5-7091G>A (n.5-7091G>A) c.345G>A (p.Gly115=) c.-98-20852G>A (n.-98-20852G>A) n.5008G>A n.5049G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43071044del | CA2573054439 | BRCA1 | c.4869del (p.Tyr1624IlefsTer8) c.4872del (p.Tyr1625IlefsTer8) c.4746del (p.Tyr1583IlefsTer8) c.4866del (p.Tyr1623IlefsTer8) c.4794del (p.Tyr1599IlefsTer8) c.1560del (p.Tyr521IlefsTer8) c.1422del (p.Tyr475IlefsTer8) c.3984del (p.Tyr1329IlefsTer8) c.4749del (p.Tyr1584IlefsTer8) c.4938del (p.Tyr1647IlefsTer8) c.4731del (p.Tyr1578IlefsTer8) c.1434del (p.Tyr479IlefsTer8) c.1479del (p.Tyr494IlefsTer8) c.4935del (p.Tyr1646IlefsTer8) c.1259del c.1446del (p.Tyr483IlefsTer8) c.*4655del (n.*4655del) n.25del c.1185del (p.Tyr396IlefsTer8) c.5-7091del (n.5-7091del) c.345del (p.Tyr116IlefsTer8) c.-98-20852del (n.-98-20852del) n.5008del n.5049del | ClinVar dbSNP |
17 | g.43071042_43071052delinsCCCAGCAGTAT | CA2260772866 | BRCA1 | c.4859_4869delinsATACTGCTGGG (p.Asp1620=) c.4862_4872delinsATACTGCTGGG (p.Asp1621=) c.4736_4746delinsATACTGCTGGG (p.Asp1579=) c.4856_4866delinsATACTGCTGGG (p.Asp1619=) c.4784_4794delinsATACTGCTGGG (p.Asp1595=) c.1550_1560delinsATACTGCTGGG (p.Asp517=) c.1412_1422delinsATACTGCTGGG (p.Asp471=) c.3974_3984delinsATACTGCTGGG (p.Asp1325=) c.4739_4749delinsATACTGCTGGG (p.Asp1580=) c.4928_4938delinsATACTGCTGGG (p.Asp1643=) c.4721_4731delinsATACTGCTGGG (p.Asp1574=) c.1424_1434delinsATACTGCTGGG (p.Asp475=) c.1469_1479delinsATACTGCTGGG (p.Asp490=) c.4925_4935delinsATACTGCTGGG (p.Asp1642=) c.1249_1259delinsATACTGCTGGG c.1436_1446delinsATACTGCTGGG (p.Asp479=) c.*4645_*4655delinsATACTGCTGGG (n.*4645_*4655delinsATACTGCTGGG) n.15_25delinsATACTGCTGGG c.1175_1185delinsATACTGCTGGG (p.Asp392=) c.5-7101_5-7091delinsATACTGCTGGG (n.5-7101_5-7091delinsATACTGCTGGG) c.335_345delinsATACTGCTGGG (p.Asp112=) c.-98-20862_-98-20852delinsATACTGCTGGG (n.-98-20862_-98-20852delinsATACTGCTGGG) n.4998_5008delinsATACTGCTGGG n.5039_5049delinsATACTGCTGGG | |
17 | g.43071043C>A | CA10591784 | BRCA1 | c.4868G>T (p.Gly1623Val) c.4871G>T (p.Gly1624Val) c.4745G>T (p.Gly1582Val) c.4865G>T (p.Gly1622Val) c.4793G>T (p.Gly1598Val) c.1559G>T (p.Gly520Val) c.1421G>T (p.Gly474Val) c.3983G>T (p.Gly1328Val) c.4748G>T (p.Gly1583Val) c.4937G>T (p.Gly1646Val) c.4730G>T (p.Gly1577Val) c.1433G>T (p.Gly478Val) c.1478G>T (p.Gly493Val) c.4934G>T (p.Gly1645Val) c.1258G>T c.1445G>T (p.Gly482Val) c.*4654G>T (n.*4654G>T) n.24G>T c.1184G>T (p.Gly395Val) c.5-7092G>T (n.5-7092G>T) c.344G>T (p.Gly115Val) c.-98-20853G>T (n.-98-20853G>T) n.5007G>T n.5048G>T | dbSNP |
17 | g.43071043C= | CA2260772867 | BRCA1 | c.4868G= (p.Gly1623=) c.4871G= (p.Gly1624=) c.4745G= (p.Gly1582=) c.4865G= (p.Gly1622=) c.4793G= (p.Gly1598=) c.1559G= (p.Gly520=) c.1421G= (p.Gly474=) c.3983G= (p.Gly1328=) c.4748G= (p.Gly1583=) c.4937G= (p.Gly1646=) c.4730G= (p.Gly1577=) c.1433G= (p.Gly478=) c.1478G= (p.Gly493=) c.4934G= (p.Gly1645=) c.1258G= c.1445G= (p.Gly482=) c.*4654G= (n.*4654G=) n.24G= c.1184G= (p.Gly395=) c.5-7092G= (n.5-7092G=) c.344G= (p.Gly115=) c.-98-20853G= (n.-98-20853G=) n.5007G= n.5048G= | |
17 | g.43071043C>G | CA10591785 | BRCA1 | c.4868G>C (p.Gly1623Ala) c.4871G>C (p.Gly1624Ala) c.4745G>C (p.Gly1582Ala) c.4865G>C (p.Gly1622Ala) c.4793G>C (p.Gly1598Ala) c.1559G>C (p.Gly520Ala) c.1421G>C (p.Gly474Ala) c.3983G>C (p.Gly1328Ala) c.4748G>C (p.Gly1583Ala) c.4937G>C (p.Gly1646Ala) c.4730G>C (p.Gly1577Ala) c.1433G>C (p.Gly478Ala) c.1478G>C (p.Gly493Ala) c.4934G>C (p.Gly1645Ala) c.1258G>C c.1445G>C (p.Gly482Ala) c.*4654G>C (n.*4654G>C) n.24G>C c.1184G>C (p.Gly395Ala) c.5-7092G>C (n.5-7092G>C) c.344G>C (p.Gly115Ala) c.-98-20853G>C (n.-98-20853G>C) n.5007G>C n.5048G>C | ClinVar dbSNP |
17 | g.43071043C>T | CA10591786 | BRCA1 | c.4868G>A (p.Gly1623Glu) c.4871G>A (p.Gly1624Glu) c.4745G>A (p.Gly1582Glu) c.4865G>A (p.Gly1622Glu) c.4793G>A (p.Gly1598Glu) c.1559G>A (p.Gly520Glu) c.1421G>A (p.Gly474Glu) c.3983G>A (p.Gly1328Glu) c.4748G>A (p.Gly1583Glu) c.4937G>A (p.Gly1646Glu) c.4730G>A (p.Gly1577Glu) c.1433G>A (p.Gly478Glu) c.1478G>A (p.Gly493Glu) c.4934G>A (p.Gly1645Glu) c.1258G>A c.1445G>A (p.Gly482Glu) c.*4654G>A (n.*4654G>A) n.24G>A c.1184G>A (p.Gly395Glu) c.5-7092G>A (n.5-7092G>A) c.344G>A (p.Gly115Glu) c.-98-20853G>A (n.-98-20853G>A) n.5007G>A n.5048G>A | ClinVar dbSNP |
17 | g.43071044_43071053del | CA658656618 | BRCA1 | c.4859_4868del (p.Asp1620GlyfsTer9) c.4862_4871del (p.Asp1621GlyfsTer9) c.4736_4745del (p.Asp1579GlyfsTer9) c.4856_4865del (p.Asp1619GlyfsTer9) c.4784_4793del (p.Asp1595GlyfsTer9) c.1550_1559del (p.Asp517GlyfsTer9) c.1412_1421del (p.Asp471GlyfsTer9) c.3974_3983del (p.Asp1325GlyfsTer9) c.4739_4748del (p.Asp1580GlyfsTer9) c.4928_4937del (p.Asp1643GlyfsTer9) c.4721_4730del (p.Asp1574GlyfsTer9) c.1424_1433del (p.Asp475GlyfsTer9) c.1469_1478del (p.Asp490GlyfsTer9) c.4925_4934del (p.Asp1642GlyfsTer9) c.1249_1258del c.1436_1445del (p.Asp479GlyfsTer9) c.*4645_*4654del (n.*4645_*4654del) n.15_24del c.1175_1184del (p.Asp392GlyfsTer9) c.5-7101_5-7092del (n.5-7101_5-7092del) c.335_344del (p.Asp112GlyfsTer9) c.-98-20862_-98-20853del (n.-98-20862_-98-20853del) n.4998_5007del n.5039_5048del | ClinVar dbSNP |
17 | g.43071043_43071044insT | CA1139665578 | BRCA1 | c.4867_4868insA (p.Gly1623GlufsTer3) c.4870_4871insA (p.Gly1624GlufsTer3) c.4744_4745insA (p.Gly1582GlufsTer3) c.4864_4865insA (p.Gly1622GlufsTer3) c.4792_4793insA (p.Gly1598GlufsTer3) c.1558_1559insA (p.Gly520GlufsTer3) c.1420_1421insA (p.Gly474GlufsTer3) c.3982_3983insA (p.Gly1328GlufsTer3) c.4747_4748insA (p.Gly1583GlufsTer3) c.4936_4937insA (p.Gly1646GlufsTer3) c.4729_4730insA (p.Gly1577GlufsTer3) c.1432_1433insA (p.Gly478GlufsTer3) c.1477_1478insA (p.Gly493GlufsTer3) c.4933_4934insA (p.Gly1645GlufsTer3) c.1257_1258insA c.1444_1445insA (p.Gly482GlufsTer3) c.*4653_*4654insA (n.*4653_*4654insA) n.23_24insA c.1183_1184insA (p.Gly395GlufsTer3) c.5-7093_5-7092insA (n.5-7093_5-7092insA) c.343_344insA (p.Gly115GlufsTer3) c.-98-20854_-98-20853insA (n.-98-20854_-98-20853insA) n.5006_5007insA n.5047_5048insA | ClinVar dbSNP |
17 | g.43071044C>A | CA10591787 | BRCA1 | c.4867G>T (p.Gly1623Trp) c.4870G>T (p.Gly1624Trp) c.4744G>T (p.Gly1582Trp) c.4864G>T (p.Gly1622Trp) c.4792G>T (p.Gly1598Trp) c.1558G>T (p.Gly520Trp) c.1420G>T (p.Gly474Trp) c.3982G>T (p.Gly1328Trp) c.4747G>T (p.Gly1583Trp) c.4936G>T (p.Gly1646Trp) c.4729G>T (p.Gly1577Trp) c.1432G>T (p.Gly478Trp) c.1477G>T (p.Gly493Trp) c.4933G>T (p.Gly1645Trp) c.1257G>T c.1444G>T (p.Gly482Trp) c.*4653G>T (n.*4653G>T) n.23G>T c.1183G>T (p.Gly395Trp) c.5-7093G>T (n.5-7093G>T) c.343G>T (p.Gly115Trp) c.-98-20854G>T (n.-98-20854G>T) n.5006G>T n.5047G>T | dbSNP |
17 | g.43071044C>G | CA10591788 | BRCA1 | c.4867G>C (p.Gly1623Arg) c.4870G>C (p.Gly1624Arg) c.4744G>C (p.Gly1582Arg) c.4864G>C (p.Gly1622Arg) c.4792G>C (p.Gly1598Arg) c.1558G>C (p.Gly520Arg) c.1420G>C (p.Gly474Arg) c.3982G>C (p.Gly1328Arg) c.4747G>C (p.Gly1583Arg) c.4936G>C (p.Gly1646Arg) c.4729G>C (p.Gly1577Arg) c.1432G>C (p.Gly478Arg) c.1477G>C (p.Gly493Arg) c.4933G>C (p.Gly1645Arg) c.1257G>C c.1444G>C (p.Gly482Arg) c.*4653G>C (n.*4653G>C) n.23G>C c.1183G>C (p.Gly395Arg) c.5-7093G>C (n.5-7093G>C) c.343G>C (p.Gly115Arg) c.-98-20854G>C (n.-98-20854G>C) n.5006G>C n.5047G>C | dbSNP |
17 | g.43071044C>T | CA10591789 | BRCA1 | c.4867G>A (p.Gly1623Arg) c.4870G>A (p.Gly1624Arg) c.4744G>A (p.Gly1582Arg) c.4864G>A (p.Gly1622Arg) c.4792G>A (p.Gly1598Arg) c.1558G>A (p.Gly520Arg) c.1420G>A (p.Gly474Arg) c.3982G>A (p.Gly1328Arg) c.4747G>A (p.Gly1583Arg) c.4936G>A (p.Gly1646Arg) c.4729G>A (p.Gly1577Arg) c.1432G>A (p.Gly478Arg) c.1477G>A (p.Gly493Arg) c.4933G>A (p.Gly1645Arg) c.1257G>A c.1444G>A (p.Gly482Arg) c.*4653G>A (n.*4653G>A) n.23G>A c.1183G>A (p.Gly395Arg) c.5-7093G>A (n.5-7093G>A) c.343G>A (p.Gly115Arg) c.-98-20854G>A (n.-98-20854G>A) n.5006G>A n.5047G>A | dbSNP |
17 | g.43071045A>C | CA500231769 | BRCA1 | c.4866T>G (p.Ala1622=) c.4869T>G (p.Ala1623=) c.4743T>G (p.Ala1581=) c.4863T>G (p.Ala1621=) c.4791T>G (p.Ala1597=) c.1557T>G (p.Ala519=) c.1419T>G (p.Ala473=) c.3981T>G (p.Ala1327=) c.4746T>G (p.Ala1582=) c.4935T>G (p.Ala1645=) c.4728T>G (p.Ala1576=) c.1431T>G (p.Ala477=) c.1476T>G (p.Ala492=) c.4932T>G (p.Ala1644=) c.1256T>G c.1443T>G (p.Ala481=) c.*4652T>G (n.*4652T>G) n.22T>G c.1182T>G (p.Ala394=) c.5-7094T>G (n.5-7094T>G) c.342T>G (p.Ala114=) c.-98-20855T>G (n.-98-20855T>G) n.5005T>G n.5046T>G | |
17 | g.43071045A>G | CA500231771 | BRCA1 | c.4866T>C (p.Ala1622=) c.4869T>C (p.Ala1623=) c.4743T>C (p.Ala1581=) c.4863T>C (p.Ala1621=) c.4791T>C (p.Ala1597=) c.1557T>C (p.Ala519=) c.1419T>C (p.Ala473=) c.3981T>C (p.Ala1327=) c.4746T>C (p.Ala1582=) c.4935T>C (p.Ala1645=) c.4728T>C (p.Ala1576=) c.1431T>C (p.Ala477=) c.1476T>C (p.Ala492=) c.4932T>C (p.Ala1644=) c.1256T>C c.1443T>C (p.Ala481=) c.*4652T>C (n.*4652T>C) n.22T>C c.1182T>C (p.Ala394=) c.5-7094T>C (n.5-7094T>C) c.342T>C (p.Ala114=) c.-98-20855T>C (n.-98-20855T>C) n.5005T>C n.5046T>C | ClinVar dbSNP |
17 | g.43071045A>T | CA500231773 | BRCA1 | c.4866T>A (p.Ala1622=) c.4869T>A (p.Ala1623=) c.4743T>A (p.Ala1581=) c.4863T>A (p.Ala1621=) c.4791T>A (p.Ala1597=) c.1557T>A (p.Ala519=) c.1419T>A (p.Ala473=) c.3981T>A (p.Ala1327=) c.4746T>A (p.Ala1582=) c.4935T>A (p.Ala1645=) c.4728T>A (p.Ala1576=) c.1431T>A (p.Ala477=) c.1476T>A (p.Ala492=) c.4932T>A (p.Ala1644=) c.1256T>A c.1443T>A (p.Ala481=) c.*4652T>A (n.*4652T>A) n.22T>A c.1182T>A (p.Ala394=) c.5-7094T>A (n.5-7094T>A) c.342T>A (p.Ala114=) c.-98-20855T>A (n.-98-20855T>A) n.5005T>A n.5046T>A | dbSNP |
17 | g.43071046G>A | CA10591790 | BRCA1 | c.4865C>T (p.Ala1622Val) c.4868C>T (p.Ala1623Val) c.4742C>T (p.Ala1581Val) c.4862C>T (p.Ala1621Val) c.4790C>T (p.Ala1597Val) c.1556C>T (p.Ala519Val) c.1418C>T (p.Ala473Val) c.3980C>T (p.Ala1327Val) c.4745C>T (p.Ala1582Val) c.4934C>T (p.Ala1645Val) c.4727C>T (p.Ala1576Val) c.1430C>T (p.Ala477Val) c.1475C>T (p.Ala492Val) c.4931C>T (p.Ala1644Val) c.1255C>T c.1442C>T (p.Ala481Val) c.*4651C>T (n.*4651C>T) n.21C>T c.1181C>T (p.Ala394Val) c.5-7095C>T (n.5-7095C>T) c.341C>T (p.Ala114Val) c.-98-20856C>T (n.-98-20856C>T) n.5004C>T n.5045C>T | ClinVar dbSNP |
17 | g.43071046G>C | CA003058 | BRCA1 | c.4865C>G (p.Ala1622Gly) c.4868C>G (p.Ala1623Gly) c.4742C>G (p.Ala1581Gly) c.4862C>G (p.Ala1621Gly) c.4790C>G (p.Ala1597Gly) c.1556C>G (p.Ala519Gly) c.1418C>G (p.Ala473Gly) c.3980C>G (p.Ala1327Gly) c.4745C>G (p.Ala1582Gly) c.4934C>G (p.Ala1645Gly) c.4727C>G (p.Ala1576Gly) c.1430C>G (p.Ala477Gly) c.1475C>G (p.Ala492Gly) c.4931C>G (p.Ala1644Gly) c.1255C>G c.1442C>G (p.Ala481Gly) c.*4651C>G (n.*4651C>G) n.21C>G c.1181C>G (p.Ala394Gly) c.5-7095C>G (n.5-7095C>G) c.341C>G (p.Ala114Gly) c.-98-20856C>G (n.-98-20856C>G) n.5004C>G n.5045C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43071046G= | CA2260772868 | BRCA1 | c.4865C= (p.Ala1622=) c.4868C= (p.Ala1623=) c.4742C= (p.Ala1581=) c.4862C= (p.Ala1621=) c.4790C= (p.Ala1597=) c.1556C= (p.Ala519=) c.1418C= (p.Ala473=) c.3980C= (p.Ala1327=) c.4745C= (p.Ala1582=) c.4934C= (p.Ala1645=) c.4727C= (p.Ala1576=) c.1430C= (p.Ala477=) c.1475C= (p.Ala492=) c.4931C= (p.Ala1644=) c.1255C= c.1442C= (p.Ala481=) c.*4651C= (n.*4651C=) n.21C= c.1181C= (p.Ala394=) c.5-7095C= (n.5-7095C=) c.341C= (p.Ala114=) c.-98-20856C= (n.-98-20856C=) n.5004C= n.5045C= | |
17 | g.43071046G>T | CA10591791 | BRCA1 | c.4865C>A (p.Ala1622Asp) c.4868C>A (p.Ala1623Asp) c.4742C>A (p.Ala1581Asp) c.4862C>A (p.Ala1621Asp) c.4790C>A (p.Ala1597Asp) c.1556C>A (p.Ala519Asp) c.1418C>A (p.Ala473Asp) c.3980C>A (p.Ala1327Asp) c.4745C>A (p.Ala1582Asp) c.4934C>A (p.Ala1645Asp) c.4727C>A (p.Ala1576Asp) c.1430C>A (p.Ala477Asp) c.1475C>A (p.Ala492Asp) c.4931C>A (p.Ala1644Asp) c.1255C>A c.1442C>A (p.Ala481Asp) c.*4651C>A (n.*4651C>A) n.21C>A c.1181C>A (p.Ala394Asp) c.5-7095C>A (n.5-7095C>A) c.341C>A (p.Ala114Asp) c.-98-20856C>A (n.-98-20856C>A) n.5004C>A n.5045C>A | dbSNP |
17 | g.43071047C>A | CA10591792 | BRCA1 | c.4864G>T (p.Ala1622Ser) c.4867G>T (p.Ala1623Ser) c.4741G>T (p.Ala1581Ser) c.4861G>T (p.Ala1621Ser) c.4789G>T (p.Ala1597Ser) c.1555G>T (p.Ala519Ser) c.1417G>T (p.Ala473Ser) c.3979G>T (p.Ala1327Ser) c.4744G>T (p.Ala1582Ser) c.4933G>T (p.Ala1645Ser) c.4726G>T (p.Ala1576Ser) c.1429G>T (p.Ala477Ser) c.1474G>T (p.Ala492Ser) c.4930G>T (p.Ala1644Ser) c.1254G>T c.1441G>T (p.Ala481Ser) c.*4650G>T (n.*4650G>T) n.20G>T c.1180G>T (p.Ala394Ser) c.5-7096G>T (n.5-7096G>T) c.340G>T (p.Ala114Ser) c.-98-20857G>T (n.-98-20857G>T) n.5003G>T n.5044G>T | ClinVar dbSNP |
17 | g.43071047C>G | CA10591793 | BRCA1 | c.4864G>C (p.Ala1622Pro) c.4867G>C (p.Ala1623Pro) c.4741G>C (p.Ala1581Pro) c.4861G>C (p.Ala1621Pro) c.4789G>C (p.Ala1597Pro) c.1555G>C (p.Ala519Pro) c.1417G>C (p.Ala473Pro) c.3979G>C (p.Ala1327Pro) c.4744G>C (p.Ala1582Pro) c.4933G>C (p.Ala1645Pro) c.4726G>C (p.Ala1576Pro) c.1429G>C (p.Ala477Pro) c.1474G>C (p.Ala492Pro) c.4930G>C (p.Ala1644Pro) c.1254G>C c.1441G>C (p.Ala481Pro) c.*4650G>C (n.*4650G>C) n.20G>C c.1180G>C (p.Ala394Pro) c.5-7096G>C (n.5-7096G>C) c.340G>C (p.Ala114Pro) c.-98-20857G>C (n.-98-20857G>C) n.5003G>C n.5044G>C | dbSNP |
17 | g.43071047C>T | CA10591794 | BRCA1 | c.4864G>A (p.Ala1622Thr) c.4867G>A (p.Ala1623Thr) c.4741G>A (p.Ala1581Thr) c.4861G>A (p.Ala1621Thr) c.4789G>A (p.Ala1597Thr) c.1555G>A (p.Ala519Thr) c.1417G>A (p.Ala473Thr) c.3979G>A (p.Ala1327Thr) c.4744G>A (p.Ala1582Thr) c.4933G>A (p.Ala1645Thr) c.4726G>A (p.Ala1576Thr) c.1429G>A (p.Ala477Thr) c.1474G>A (p.Ala492Thr) c.4930G>A (p.Ala1644Thr) c.1254G>A c.1441G>A (p.Ala481Thr) c.*4650G>A (n.*4650G>A) n.20G>A c.1180G>A (p.Ala394Thr) c.5-7096G>A (n.5-7096G>A) c.340G>A (p.Ala114Thr) c.-98-20857G>A (n.-98-20857G>A) n.5003G>A n.5044G>A | ClinVar dbSNP |
17 | g.43071048A>C | CA500231778 | BRCA1 | c.4863T>G (p.Thr1621=) c.4866T>G (p.Thr1622=) c.4740T>G (p.Thr1580=) c.4860T>G (p.Thr1620=) c.4788T>G (p.Thr1596=) c.1554T>G (p.Thr518=) c.1416T>G (p.Thr472=) c.3978T>G (p.Thr1326=) c.4743T>G (p.Thr1581=) c.4932T>G (p.Thr1644=) c.4725T>G (p.Thr1575=) c.1428T>G (p.Thr476=) c.1473T>G (p.Thr491=) c.4929T>G (p.Thr1643=) c.1253T>G c.1440T>G (p.Thr480=) c.*4649T>G (n.*4649T>G) n.19T>G c.1179T>G (p.Thr393=) c.5-7097T>G (n.5-7097T>G) c.339T>G (p.Thr113=) c.-98-20858T>G (n.-98-20858T>G) n.5002T>G n.5043T>G | |
17 | g.43071048A>G | CA500231779 | BRCA1 | c.4863T>C (p.Thr1621=) c.4866T>C (p.Thr1622=) c.4740T>C (p.Thr1580=) c.4860T>C (p.Thr1620=) c.4788T>C (p.Thr1596=) c.1554T>C (p.Thr518=) c.1416T>C (p.Thr472=) c.3978T>C (p.Thr1326=) c.4743T>C (p.Thr1581=) c.4932T>C (p.Thr1644=) c.4725T>C (p.Thr1575=) c.1428T>C (p.Thr476=) c.1473T>C (p.Thr491=) c.4929T>C (p.Thr1643=) c.1253T>C c.1440T>C (p.Thr480=) c.*4649T>C (n.*4649T>C) n.19T>C c.1179T>C (p.Thr393=) c.5-7097T>C (n.5-7097T>C) c.339T>C (p.Thr113=) c.-98-20858T>C (n.-98-20858T>C) n.5002T>C n.5043T>C | ClinVar dbSNP |
17 | g.43071048A>T | CA500231780 | BRCA1 | c.4863T>A (p.Thr1621=) c.4866T>A (p.Thr1622=) c.4740T>A (p.Thr1580=) c.4860T>A (p.Thr1620=) c.4788T>A (p.Thr1596=) c.1554T>A (p.Thr518=) c.1416T>A (p.Thr472=) c.3978T>A (p.Thr1326=) c.4743T>A (p.Thr1581=) c.4932T>A (p.Thr1644=) c.4725T>A (p.Thr1575=) c.1428T>A (p.Thr476=) c.1473T>A (p.Thr491=) c.4929T>A (p.Thr1643=) c.1253T>A c.1440T>A (p.Thr480=) c.*4649T>A (n.*4649T>A) n.19T>A c.1179T>A (p.Thr393=) c.5-7097T>A (n.5-7097T>A) c.339T>A (p.Thr113=) c.-98-20858T>A (n.-98-20858T>A) n.5002T>A n.5043T>A | dbSNP |
17 | g.43071049G>A | CA10591795 | BRCA1 | c.4862C>T (p.Thr1621Ile) c.4865C>T (p.Thr1622Ile) c.4739C>T (p.Thr1580Ile) c.4859C>T (p.Thr1620Ile) c.4787C>T (p.Thr1596Ile) c.1553C>T (p.Thr518Ile) c.1415C>T (p.Thr472Ile) c.3977C>T (p.Thr1326Ile) c.4742C>T (p.Thr1581Ile) c.4931C>T (p.Thr1644Ile) c.4724C>T (p.Thr1575Ile) c.1427C>T (p.Thr476Ile) c.1472C>T (p.Thr491Ile) c.4928C>T (p.Thr1643Ile) c.1252C>T c.1439C>T (p.Thr480Ile) c.*4648C>T (n.*4648C>T) n.18C>T c.1178C>T (p.Thr393Ile) c.5-7098C>T (n.5-7098C>T) c.338C>T (p.Thr113Ile) c.-98-20859C>T (n.-98-20859C>T) n.5001C>T n.5042C>T | ClinVar dbSNP |
17 | g.43071049G>C | CA003057 | BRCA1 | c.4862C>G (p.Thr1621Ser) c.4865C>G (p.Thr1622Ser) c.4739C>G (p.Thr1580Ser) c.4859C>G (p.Thr1620Ser) c.4787C>G (p.Thr1596Ser) c.1553C>G (p.Thr518Ser) c.1415C>G (p.Thr472Ser) c.3977C>G (p.Thr1326Ser) c.4742C>G (p.Thr1581Ser) c.4931C>G (p.Thr1644Ser) c.4724C>G (p.Thr1575Ser) c.1427C>G (p.Thr476Ser) c.1472C>G (p.Thr491Ser) c.4928C>G (p.Thr1643Ser) c.1252C>G c.1439C>G (p.Thr480Ser) c.*4648C>G (n.*4648C>G) n.18C>G c.1178C>G (p.Thr393Ser) c.5-7098C>G (n.5-7098C>G) c.338C>G (p.Thr113Ser) c.-98-20859C>G (n.-98-20859C>G) n.5001C>G n.5042C>G | ClinVar dbSNP |
17 | g.43071049G= | CA2260772869 | BRCA1 | c.4862C= (p.Thr1621=) c.4865C= (p.Thr1622=) c.4739C= (p.Thr1580=) c.4859C= (p.Thr1620=) c.4787C= (p.Thr1596=) c.1553C= (p.Thr518=) c.1415C= (p.Thr472=) c.3977C= (p.Thr1326=) c.4742C= (p.Thr1581=) c.4931C= (p.Thr1644=) c.4724C= (p.Thr1575=) c.1427C= (p.Thr476=) c.1472C= (p.Thr491=) c.4928C= (p.Thr1643=) c.1252C= c.1439C= (p.Thr480=) c.*4648C= (n.*4648C=) n.18C= c.1178C= (p.Thr393=) c.5-7098C= (n.5-7098C=) c.338C= (p.Thr113=) c.-98-20859C= (n.-98-20859C=) n.5001C= n.5042C= | |
17 | g.43071049G>T | CA10591796 | BRCA1 | c.4862C>A (p.Thr1621Asn) c.4865C>A (p.Thr1622Asn) c.4739C>A (p.Thr1580Asn) c.4859C>A (p.Thr1620Asn) c.4787C>A (p.Thr1596Asn) c.1553C>A (p.Thr518Asn) c.1415C>A (p.Thr472Asn) c.3977C>A (p.Thr1326Asn) c.4742C>A (p.Thr1581Asn) c.4931C>A (p.Thr1644Asn) c.4724C>A (p.Thr1575Asn) c.1427C>A (p.Thr476Asn) c.1472C>A (p.Thr491Asn) c.4928C>A (p.Thr1643Asn) c.1252C>A c.1439C>A (p.Thr480Asn) c.*4648C>A (n.*4648C>A) n.18C>A c.1178C>A (p.Thr393Asn) c.5-7098C>A (n.5-7098C>A) c.338C>A (p.Thr113Asn) c.-98-20859C>A (n.-98-20859C>A) n.5001C>A n.5042C>A | |
17 | g.43071050T>A | CA10591797 | BRCA1 | c.4861A>T (p.Thr1621Ser) c.4864A>T (p.Thr1622Ser) c.4738A>T (p.Thr1580Ser) c.4858A>T (p.Thr1620Ser) c.4786A>T (p.Thr1596Ser) c.1552A>T (p.Thr518Ser) c.1414A>T (p.Thr472Ser) c.3976A>T (p.Thr1326Ser) c.4741A>T (p.Thr1581Ser) c.4930A>T (p.Thr1644Ser) c.4723A>T (p.Thr1575Ser) c.1426A>T (p.Thr476Ser) c.1471A>T (p.Thr491Ser) c.4927A>T (p.Thr1643Ser) c.1251A>T c.1438A>T (p.Thr480Ser) c.*4647A>T (n.*4647A>T) n.17A>T c.1177A>T (p.Thr393Ser) c.5-7099A>T (n.5-7099A>T) c.337A>T (p.Thr113Ser) c.-98-20860A>T (n.-98-20860A>T) n.5000A>T n.5041A>T | dbSNP |
17 | g.43071050T>C | CA003056 | BRCA1 | c.4861A>G (p.Thr1621Ala) c.4864A>G (p.Thr1622Ala) c.4738A>G (p.Thr1580Ala) c.4858A>G (p.Thr1620Ala) c.4786A>G (p.Thr1596Ala) c.1552A>G (p.Thr518Ala) c.1414A>G (p.Thr472Ala) c.3976A>G (p.Thr1326Ala) c.4741A>G (p.Thr1581Ala) c.4930A>G (p.Thr1644Ala) c.4723A>G (p.Thr1575Ala) c.1426A>G (p.Thr476Ala) c.1471A>G (p.Thr491Ala) c.4927A>G (p.Thr1643Ala) c.1251A>G c.1438A>G (p.Thr480Ala) c.*4647A>G (n.*4647A>G) n.17A>G c.1177A>G (p.Thr393Ala) c.5-7099A>G (n.5-7099A>G) c.337A>G (p.Thr113Ala) c.-98-20860A>G (n.-98-20860A>G) n.5000A>G n.5041A>G | ClinVar dbSNP |
17 | g.43071050T>G | CA10591798 | BRCA1 | c.4861A>C (p.Thr1621Pro) c.4864A>C (p.Thr1622Pro) c.4738A>C (p.Thr1580Pro) c.4858A>C (p.Thr1620Pro) c.4786A>C (p.Thr1596Pro) c.1552A>C (p.Thr518Pro) c.1414A>C (p.Thr472Pro) c.3976A>C (p.Thr1326Pro) c.4741A>C (p.Thr1581Pro) c.4930A>C (p.Thr1644Pro) c.4723A>C (p.Thr1575Pro) c.1426A>C (p.Thr476Pro) c.1471A>C (p.Thr491Pro) c.4927A>C (p.Thr1643Pro) c.1251A>C c.1438A>C (p.Thr480Pro) c.*4647A>C (n.*4647A>C) n.17A>C c.1177A>C (p.Thr393Pro) c.5-7099A>C (n.5-7099A>C) c.337A>C (p.Thr113Pro) c.-98-20860A>C (n.-98-20860A>C) n.5000A>C n.5041A>C | |
17 | g.43071050T= | CA2260772870 | BRCA1 | c.4861A= (p.Thr1621=) c.4864A= (p.Thr1622=) c.4738A= (p.Thr1580=) c.4858A= (p.Thr1620=) c.4786A= (p.Thr1596=) c.1552A= (p.Thr518=) c.1414A= (p.Thr472=) c.3976A= (p.Thr1326=) c.4741A= (p.Thr1581=) c.4930A= (p.Thr1644=) c.4723A= (p.Thr1575=) c.1426A= (p.Thr476=) c.1471A= (p.Thr491=) c.4927A= (p.Thr1643=) c.1251A= c.1438A= (p.Thr480=) c.*4647A= (n.*4647A=) n.17A= c.1177A= (p.Thr393=) c.5-7099A= (n.5-7099A=) c.337A= (p.Thr113=) c.-98-20860A= (n.-98-20860A=) n.5000A= n.5041A= | |
17 | g.43071051A>C | CA10591799 | BRCA1 | c.4860T>G (p.Asp1620Glu) c.4863T>G (p.Asp1621Glu) c.4737T>G (p.Asp1579Glu) c.4857T>G (p.Asp1619Glu) c.4785T>G (p.Asp1595Glu) c.1551T>G (p.Asp517Glu) c.1413T>G (p.Asp471Glu) c.3975T>G (p.Asp1325Glu) c.4740T>G (p.Asp1580Glu) c.4929T>G (p.Asp1643Glu) c.4722T>G (p.Asp1574Glu) c.1425T>G (p.Asp475Glu) c.1470T>G (p.Asp490Glu) c.4926T>G (p.Asp1642Glu) c.1250T>G c.1437T>G (p.Asp479Glu) c.*4646T>G (n.*4646T>G) n.16T>G c.1176T>G (p.Asp392Glu) c.5-7100T>G (n.5-7100T>G) c.336T>G (p.Asp112Glu) c.-98-20861T>G (n.-98-20861T>G) n.4999T>G n.5040T>G | dbSNP |
17 | g.43071051A>G | CA500231784 | BRCA1 | c.4860T>C (p.Asp1620=) c.4863T>C (p.Asp1621=) c.4737T>C (p.Asp1579=) c.4857T>C (p.Asp1619=) c.4785T>C (p.Asp1595=) c.1551T>C (p.Asp517=) c.1413T>C (p.Asp471=) c.3975T>C (p.Asp1325=) c.4740T>C (p.Asp1580=) c.4929T>C (p.Asp1643=) c.4722T>C (p.Asp1574=) c.1425T>C (p.Asp475=) c.1470T>C (p.Asp490=) c.4926T>C (p.Asp1642=) c.1250T>C c.1437T>C (p.Asp479=) c.*4646T>C (n.*4646T>C) n.16T>C c.1176T>C (p.Asp392=) c.5-7100T>C (n.5-7100T>C) c.336T>C (p.Asp112=) c.-98-20861T>C (n.-98-20861T>C) n.4999T>C n.5040T>C | |
17 | g.43071051A>T | CA10591800 | BRCA1 | c.4860T>A (p.Asp1620Glu) c.4863T>A (p.Asp1621Glu) c.4737T>A (p.Asp1579Glu) c.4857T>A (p.Asp1619Glu) c.4785T>A (p.Asp1595Glu) c.1551T>A (p.Asp517Glu) c.1413T>A (p.Asp471Glu) c.3975T>A (p.Asp1325Glu) c.4740T>A (p.Asp1580Glu) c.4929T>A (p.Asp1643Glu) c.4722T>A (p.Asp1574Glu) c.1425T>A (p.Asp475Glu) c.1470T>A (p.Asp490Glu) c.4926T>A (p.Asp1642Glu) c.1250T>A c.1437T>A (p.Asp479Glu) c.*4646T>A (n.*4646T>A) n.16T>A c.1176T>A (p.Asp392Glu) c.5-7100T>A (n.5-7100T>A) c.336T>A (p.Asp112Glu) c.-98-20861T>A (n.-98-20861T>A) n.4999T>A n.5040T>A | dbSNP |
17 | g.43071051_43071052insC | CA2499224392 | BRCA1 | c.4859_4860insG (p.Asp1620GlufsTer6) c.4862_4863insG (p.Asp1621GlufsTer6) c.4736_4737insG (p.Asp1579GlufsTer6) c.4856_4857insG (p.Asp1619GlufsTer6) c.4784_4785insG (p.Asp1595GlufsTer6) c.1550_1551insG (p.Asp517GlufsTer6) c.1412_1413insG (p.Asp471GlufsTer6) c.3974_3975insG (p.Asp1325GlufsTer6) c.4739_4740insG (p.Asp1580GlufsTer6) c.4928_4929insG (p.Asp1643GlufsTer6) c.4721_4722insG (p.Asp1574GlufsTer6) c.1424_1425insG (p.Asp475GlufsTer6) c.1469_1470insG (p.Asp490GlufsTer6) c.4925_4926insG (p.Asp1642GlufsTer6) c.1249_1250insG c.1436_1437insG (p.Asp479GlufsTer6) c.*4645_*4646insG (n.*4645_*4646insG) n.15_16insG c.1175_1176insG (p.Asp392GlufsTer6) c.5-7101_5-7100insG (n.5-7101_5-7100insG) c.335_336insG (p.Asp112GlufsTer6) c.-98-20862_-98-20861insG (n.-98-20862_-98-20861insG) n.4998_4999insG n.5039_5040insG | ClinVar dbSNP |
17 | g.43071052del | CA2499224393 | BRCA1 | c.4859del (p.Asp1620ValfsTer12) c.4862del (p.Asp1621ValfsTer12) c.4736del (p.Asp1579ValfsTer12) c.4856del (p.Asp1619ValfsTer12) c.4784del (p.Asp1595ValfsTer12) c.1550del (p.Asp517ValfsTer12) c.1412del (p.Asp471ValfsTer12) c.3974del (p.Asp1325ValfsTer12) c.4739del (p.Asp1580ValfsTer12) c.4928del (p.Asp1643ValfsTer12) c.4721del (p.Asp1574ValfsTer12) c.1424del (p.Asp475ValfsTer12) c.1469del (p.Asp490ValfsTer12) c.4925del (p.Asp1642ValfsTer12) c.1249del c.1436del (p.Asp479ValfsTer12) c.*4645del (n.*4645del) n.15del c.1175del (p.Asp392ValfsTer12) c.5-7101del (n.5-7101del) c.335del (p.Asp112ValfsTer12) c.-98-20862del (n.-98-20862del) n.4998del n.5039del | |
17 | g.43071052T>A | CA10591801 | BRCA1 | c.4859A>T (p.Asp1620Val) c.4862A>T (p.Asp1621Val) c.4736A>T (p.Asp1579Val) c.4856A>T (p.Asp1619Val) c.4784A>T (p.Asp1595Val) c.1550A>T (p.Asp517Val) c.1412A>T (p.Asp471Val) c.3974A>T (p.Asp1325Val) c.4739A>T (p.Asp1580Val) c.4928A>T (p.Asp1643Val) c.4721A>T (p.Asp1574Val) c.1424A>T (p.Asp475Val) c.1469A>T (p.Asp490Val) c.4925A>T (p.Asp1642Val) c.1249A>T c.1436A>T (p.Asp479Val) c.*4645A>T (n.*4645A>T) n.15A>T c.1175A>T (p.Asp392Val) c.5-7101A>T (n.5-7101A>T) c.335A>T (p.Asp112Val) c.-98-20862A>T (n.-98-20862A>T) n.4998A>T n.5039A>T | ClinVar dbSNP |
17 | g.43071052T>C | CA10591802 | BRCA1 | c.4859A>G (p.Asp1620Gly) c.4862A>G (p.Asp1621Gly) c.4736A>G (p.Asp1579Gly) c.4856A>G (p.Asp1619Gly) c.4784A>G (p.Asp1595Gly) c.1550A>G (p.Asp517Gly) c.1412A>G (p.Asp471Gly) c.3974A>G (p.Asp1325Gly) c.4739A>G (p.Asp1580Gly) c.4928A>G (p.Asp1643Gly) c.4721A>G (p.Asp1574Gly) c.1424A>G (p.Asp475Gly) c.1469A>G (p.Asp490Gly) c.4925A>G (p.Asp1642Gly) c.1249A>G c.1436A>G (p.Asp479Gly) c.*4645A>G (n.*4645A>G) n.15A>G c.1175A>G (p.Asp392Gly) c.5-7101A>G (n.5-7101A>G) c.335A>G (p.Asp112Gly) c.-98-20862A>G (n.-98-20862A>G) n.4998A>G n.5039A>G | ClinVar dbSNP |
17 | g.43071052T>G | CA10591803 | BRCA1 | c.4859A>C (p.Asp1620Ala) c.4862A>C (p.Asp1621Ala) c.4736A>C (p.Asp1579Ala) c.4856A>C (p.Asp1619Ala) c.4784A>C (p.Asp1595Ala) c.1550A>C (p.Asp517Ala) c.1412A>C (p.Asp471Ala) c.3974A>C (p.Asp1325Ala) c.4739A>C (p.Asp1580Ala) c.4928A>C (p.Asp1643Ala) c.4721A>C (p.Asp1574Ala) c.1424A>C (p.Asp475Ala) c.1469A>C (p.Asp490Ala) c.4925A>C (p.Asp1642Ala) c.1249A>C c.1436A>C (p.Asp479Ala) c.*4645A>C (n.*4645A>C) n.15A>C c.1175A>C (p.Asp392Ala) c.5-7101A>C (n.5-7101A>C) c.335A>C (p.Asp112Ala) c.-98-20862A>C (n.-98-20862A>C) n.4998A>C n.5039A>C | ClinVar dbSNP |
17 | g.43071052T= | CA2260772871 | BRCA1 | c.4859A= (p.Asp1620=) c.4862A= (p.Asp1621=) c.4736A= (p.Asp1579=) c.4856A= (p.Asp1619=) c.4784A= (p.Asp1595=) c.1550A= (p.Asp517=) c.1412A= (p.Asp471=) c.3974A= (p.Asp1325=) c.4739A= (p.Asp1580=) c.4928A= (p.Asp1643=) c.4721A= (p.Asp1574=) c.1424A= (p.Asp475=) c.1469A= (p.Asp490=) c.4925A= (p.Asp1642=) c.1249A= c.1436A= (p.Asp479=) c.*4645A= (n.*4645A=) n.15A= c.1175A= (p.Asp392=) c.5-7101A= (n.5-7101A=) c.335A= (p.Asp112=) c.-98-20862A= (n.-98-20862A=) n.4998A= n.5039A= | |
17 | g.43071053C>A | CA10591804 | BRCA1 | c.4858G>T (p.Asp1620Tyr) c.4861G>T (p.Asp1621Tyr) c.4735G>T (p.Asp1579Tyr) c.4855G>T (p.Asp1619Tyr) c.4783G>T (p.Asp1595Tyr) c.1549G>T (p.Asp517Tyr) c.1411G>T (p.Asp471Tyr) c.3973G>T (p.Asp1325Tyr) c.4738G>T (p.Asp1580Tyr) c.4927G>T (p.Asp1643Tyr) c.4720G>T (p.Asp1574Tyr) c.1423G>T (p.Asp475Tyr) c.1468G>T (p.Asp490Tyr) c.4924G>T (p.Asp1642Tyr) c.1248G>T c.1435G>T (p.Asp479Tyr) c.*4644G>T (n.*4644G>T) n.14G>T c.1174G>T (p.Asp392Tyr) c.5-7102G>T (n.5-7102G>T) c.334G>T (p.Asp112Tyr) c.-98-20863G>T (n.-98-20863G>T) n.4997G>T n.5038G>T | dbSNP |
17 | g.43071053C>G | CA10591805 | BRCA1 | c.4858G>C (p.Asp1620His) c.4861G>C (p.Asp1621His) c.4735G>C (p.Asp1579His) c.4855G>C (p.Asp1619His) c.4783G>C (p.Asp1595His) c.1549G>C (p.Asp517His) c.1411G>C (p.Asp471His) c.3973G>C (p.Asp1325His) c.4738G>C (p.Asp1580His) c.4927G>C (p.Asp1643His) c.4720G>C (p.Asp1574His) c.1423G>C (p.Asp475His) c.1468G>C (p.Asp490His) c.4924G>C (p.Asp1642His) c.1248G>C c.1435G>C (p.Asp479His) c.*4644G>C (n.*4644G>C) n.14G>C c.1174G>C (p.Asp392His) c.5-7102G>C (n.5-7102G>C) c.334G>C (p.Asp112His) c.-98-20863G>C (n.-98-20863G>C) n.4997G>C n.5038G>C | dbSNP |
17 | g.43071053C>T | CA10591806 | BRCA1 | c.4858G>A (p.Asp1620Asn) c.4861G>A (p.Asp1621Asn) c.4735G>A (p.Asp1579Asn) c.4855G>A (p.Asp1619Asn) c.4783G>A (p.Asp1595Asn) c.1549G>A (p.Asp517Asn) c.1411G>A (p.Asp471Asn) c.3973G>A (p.Asp1325Asn) c.4738G>A (p.Asp1580Asn) c.4927G>A (p.Asp1643Asn) c.4720G>A (p.Asp1574Asn) c.1423G>A (p.Asp475Asn) c.1468G>A (p.Asp490Asn) c.4924G>A (p.Asp1642Asn) c.1248G>A c.1435G>A (p.Asp479Asn) c.*4644G>A (n.*4644G>A) n.14G>A c.1174G>A (p.Asp392Asn) c.5-7102G>A (n.5-7102G>A) c.334G>A (p.Asp112Asn) c.-98-20863G>A (n.-98-20863G>A) n.4997G>A n.5038G>A | dbSNP |
17 | g.43071054A= | CA2260772872 | BRCA1 | c.4857T= (p.Thr1619=) c.4860T= (p.Thr1620=) c.4734T= (p.Thr1578=) c.4854T= (p.Thr1618=) c.4782T= (p.Thr1594=) c.1548T= (p.Thr516=) c.1410T= (p.Thr470=) c.3972T= (p.Thr1324=) c.4737T= (p.Thr1579=) c.4926T= (p.Thr1642=) c.4719T= (p.Thr1573=) c.1422T= (p.Thr474=) c.1467T= (p.Thr489=) c.4923T= (p.Thr1641=) c.1247T= c.1434T= (p.Thr478=) c.*4643T= (n.*4643T=) n.13T= c.1173T= (p.Thr391=) c.5-7103T= (n.5-7103T=) c.333T= (p.Thr111=) c.-98-20864T= (n.-98-20864T=) n.4996T= n.5037T= | |
17 | g.43071054A>C | CA500231787 | BRCA1 | c.4857T>G (p.Thr1619=) c.4860T>G (p.Thr1620=) c.4734T>G (p.Thr1578=) c.4854T>G (p.Thr1618=) c.4782T>G (p.Thr1594=) c.1548T>G (p.Thr516=) c.1410T>G (p.Thr470=) c.3972T>G (p.Thr1324=) c.4737T>G (p.Thr1579=) c.4926T>G (p.Thr1642=) c.4719T>G (p.Thr1573=) c.1422T>G (p.Thr474=) c.1467T>G (p.Thr489=) c.4923T>G (p.Thr1641=) c.1247T>G c.1434T>G (p.Thr478=) c.*4643T>G (n.*4643T>G) n.13T>G c.1173T>G (p.Thr391=) c.5-7103T>G (n.5-7103T>G) c.333T>G (p.Thr111=) c.-98-20864T>G (n.-98-20864T>G) n.4996T>G n.5037T>G | |
17 | g.43071054A>G | CA053379 | BRCA1 | c.4857T>C (p.Thr1619=) c.4860T>C (p.Thr1620=) c.4734T>C (p.Thr1578=) c.4854T>C (p.Thr1618=) c.4782T>C (p.Thr1594=) c.1548T>C (p.Thr516=) c.1410T>C (p.Thr470=) c.3972T>C (p.Thr1324=) c.4737T>C (p.Thr1579=) c.4926T>C (p.Thr1642=) c.4719T>C (p.Thr1573=) c.1422T>C (p.Thr474=) c.1467T>C (p.Thr489=) c.4923T>C (p.Thr1641=) c.1247T>C c.1434T>C (p.Thr478=) c.*4643T>C (n.*4643T>C) n.13T>C c.1173T>C (p.Thr391=) c.5-7103T>C (n.5-7103T>C) c.333T>C (p.Thr111=) c.-98-20864T>C (n.-98-20864T>C) n.4996T>C n.5037T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43071054A>T | CA500231786 | BRCA1 | c.4857T>A (p.Thr1619=) c.4860T>A (p.Thr1620=) c.4734T>A (p.Thr1578=) c.4854T>A (p.Thr1618=) c.4782T>A (p.Thr1594=) c.1548T>A (p.Thr516=) c.1410T>A (p.Thr470=) c.3972T>A (p.Thr1324=) c.4737T>A (p.Thr1579=) c.4926T>A (p.Thr1642=) c.4719T>A (p.Thr1573=) c.1422T>A (p.Thr474=) c.1467T>A (p.Thr489=) c.4923T>A (p.Thr1641=) c.1247T>A c.1434T>A (p.Thr478=) c.*4643T>A (n.*4643T>A) n.13T>A c.1173T>A (p.Thr391=) c.5-7103T>A (n.5-7103T>A) c.333T>A (p.Thr111=) c.-98-20864T>A (n.-98-20864T>A) n.4996T>A n.5037T>A | dbSNP |
17 | g.43071055G>A | CA10591807 | BRCA1 | c.4856C>T (p.Thr1619Ile) c.4859C>T (p.Thr1620Ile) c.4733C>T (p.Thr1578Ile) c.4853C>T (p.Thr1618Ile) c.4781C>T (p.Thr1594Ile) c.1547C>T (p.Thr516Ile) c.1409C>T (p.Thr470Ile) c.3971C>T (p.Thr1324Ile) c.4736C>T (p.Thr1579Ile) c.4925C>T (p.Thr1642Ile) c.4718C>T (p.Thr1573Ile) c.1421C>T (p.Thr474Ile) c.1466C>T (p.Thr489Ile) c.4922C>T (p.Thr1641Ile) c.1246C>T c.1433C>T (p.Thr478Ile) c.*4642C>T (n.*4642C>T) n.12C>T c.1172C>T (p.Thr391Ile) c.5-7104C>T (n.5-7104C>T) c.332C>T (p.Thr111Ile) c.-98-20865C>T (n.-98-20865C>T) n.4995C>T n.5036C>T | ClinVar dbSNP |
17 | g.43071055G>C | CA10591808 | BRCA1 | c.4856C>G (p.Thr1619Ser) c.4859C>G (p.Thr1620Ser) c.4733C>G (p.Thr1578Ser) c.4853C>G (p.Thr1618Ser) c.4781C>G (p.Thr1594Ser) c.1547C>G (p.Thr516Ser) c.1409C>G (p.Thr470Ser) c.3971C>G (p.Thr1324Ser) c.4736C>G (p.Thr1579Ser) c.4925C>G (p.Thr1642Ser) c.4718C>G (p.Thr1573Ser) c.1421C>G (p.Thr474Ser) c.1466C>G (p.Thr489Ser) c.4922C>G (p.Thr1641Ser) c.1246C>G c.1433C>G (p.Thr478Ser) c.*4642C>G (n.*4642C>G) n.12C>G c.1172C>G (p.Thr391Ser) c.5-7104C>G (n.5-7104C>G) c.332C>G (p.Thr111Ser) c.-98-20865C>G (n.-98-20865C>G) n.4995C>G n.5036C>G | dbSNP |
17 | g.43071055G>T | CA10591809 | BRCA1 | c.4856C>A (p.Thr1619Asn) c.4859C>A (p.Thr1620Asn) c.4733C>A (p.Thr1578Asn) c.4853C>A (p.Thr1618Asn) c.4781C>A (p.Thr1594Asn) c.1547C>A (p.Thr516Asn) c.1409C>A (p.Thr470Asn) c.3971C>A (p.Thr1324Asn) c.4736C>A (p.Thr1579Asn) c.4925C>A (p.Thr1642Asn) c.4718C>A (p.Thr1573Asn) c.1421C>A (p.Thr474Asn) c.1466C>A (p.Thr489Asn) c.4922C>A (p.Thr1641Asn) c.1246C>A c.1433C>A (p.Thr478Asn) c.*4642C>A (n.*4642C>A) n.12C>A c.1172C>A (p.Thr391Asn) c.5-7104C>A (n.5-7104C>A) c.332C>A (p.Thr111Asn) c.-98-20865C>A (n.-98-20865C>A) n.4995C>A n.5036C>A | |
17 | g.43071056T>A | CA10591810 | BRCA1 | c.4855A>T (p.Thr1619Ser) c.4858A>T (p.Thr1620Ser) c.4732A>T (p.Thr1578Ser) c.4852A>T (p.Thr1618Ser) c.4780A>T (p.Thr1594Ser) c.1546A>T (p.Thr516Ser) c.1408A>T (p.Thr470Ser) c.3970A>T (p.Thr1324Ser) c.4735A>T (p.Thr1579Ser) c.4924A>T (p.Thr1642Ser) c.4717A>T (p.Thr1573Ser) c.1420A>T (p.Thr474Ser) c.1465A>T (p.Thr489Ser) c.4921A>T (p.Thr1641Ser) c.1245A>T c.1432A>T (p.Thr478Ser) c.*4641A>T (n.*4641A>T) n.11A>T c.1171A>T (p.Thr391Ser) c.5-7105A>T (n.5-7105A>T) c.331A>T (p.Thr111Ser) c.-98-20866A>T (n.-98-20866A>T) n.4994A>T n.5035A>T | dbSNP |
17 | g.43071056T>C | CA003055 | BRCA1 | c.4855A>G (p.Thr1619Ala) c.4858A>G (p.Thr1620Ala) c.4732A>G (p.Thr1578Ala) c.4852A>G (p.Thr1618Ala) c.4780A>G (p.Thr1594Ala) c.1546A>G (p.Thr516Ala) c.1408A>G (p.Thr470Ala) c.3970A>G (p.Thr1324Ala) c.4735A>G (p.Thr1579Ala) c.4924A>G (p.Thr1642Ala) c.4717A>G (p.Thr1573Ala) c.1420A>G (p.Thr474Ala) c.1465A>G (p.Thr489Ala) c.4921A>G (p.Thr1641Ala) c.1245A>G c.1432A>G (p.Thr478Ala) c.*4641A>G (n.*4641A>G) n.11A>G c.1171A>G (p.Thr391Ala) c.5-7105A>G (n.5-7105A>G) c.331A>G (p.Thr111Ala) c.-98-20866A>G (n.-98-20866A>G) n.4994A>G n.5035A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43071056T>G | CA10591811 | BRCA1 | c.4855A>C (p.Thr1619Pro) c.4858A>C (p.Thr1620Pro) c.4732A>C (p.Thr1578Pro) c.4852A>C (p.Thr1618Pro) c.4780A>C (p.Thr1594Pro) c.1546A>C (p.Thr516Pro) c.1408A>C (p.Thr470Pro) c.3970A>C (p.Thr1324Pro) c.4735A>C (p.Thr1579Pro) c.4924A>C (p.Thr1642Pro) c.4717A>C (p.Thr1573Pro) c.1420A>C (p.Thr474Pro) c.1465A>C (p.Thr489Pro) c.4921A>C (p.Thr1641Pro) c.1245A>C c.1432A>C (p.Thr478Pro) c.*4641A>C (n.*4641A>C) n.11A>C c.1171A>C (p.Thr391Pro) c.5-7105A>C (n.5-7105A>C) c.331A>C (p.Thr111Pro) c.-98-20866A>C (n.-98-20866A>C) n.4994A>C n.5035A>C | |
17 | g.43071056T= | CA2260772873 | BRCA1 | c.4855A= (p.Thr1619=) c.4858A= (p.Thr1620=) c.4732A= (p.Thr1578=) c.4852A= (p.Thr1618=) c.4780A= (p.Thr1594=) c.1546A= (p.Thr516=) c.1408A= (p.Thr470=) c.3970A= (p.Thr1324=) c.4735A= (p.Thr1579=) c.4924A= (p.Thr1642=) c.4717A= (p.Thr1573=) c.1420A= (p.Thr474=) c.1465A= (p.Thr489=) c.4921A= (p.Thr1641=) c.1245A= c.1432A= (p.Thr478=) c.*4641A= (n.*4641A=) n.11A= c.1171A= (p.Thr391=) c.5-7105A= (n.5-7105A=) c.331A= (p.Thr111=) c.-98-20866A= (n.-98-20866A=) n.4994A= n.5035A= | |
17 | g.43071057A>C | CA500231789 | BRCA1 | c.4854T>G (p.Thr1618=) c.4857T>G (p.Thr1619=) c.4731T>G (p.Thr1577=) c.4851T>G (p.Thr1617=) c.4779T>G (p.Thr1593=) c.1545T>G (p.Thr515=) c.1407T>G (p.Thr469=) c.3969T>G (p.Thr1323=) c.4734T>G (p.Thr1578=) c.4923T>G (p.Thr1641=) c.4716T>G (p.Thr1572=) c.1419T>G (p.Thr473=) c.1464T>G (p.Thr488=) c.4920T>G (p.Thr1640=) c.1244T>G c.1431T>G (p.Thr477=) c.*4640T>G (n.*4640T>G) n.10T>G c.1170T>G (p.Thr390=) c.5-7106T>G (n.5-7106T>G) c.330T>G (p.Thr110=) c.-98-20867T>G (n.-98-20867T>G) n.4993T>G n.5034T>G | |
17 | g.43071057A>G | CA500231790 | BRCA1 | c.4854T>C (p.Thr1618=) c.4857T>C (p.Thr1619=) c.4731T>C (p.Thr1577=) c.4851T>C (p.Thr1617=) c.4779T>C (p.Thr1593=) c.1545T>C (p.Thr515=) c.1407T>C (p.Thr469=) c.3969T>C (p.Thr1323=) c.4734T>C (p.Thr1578=) c.4923T>C (p.Thr1641=) c.4716T>C (p.Thr1572=) c.1419T>C (p.Thr473=) c.1464T>C (p.Thr488=) c.4920T>C (p.Thr1640=) c.1244T>C c.1431T>C (p.Thr477=) c.*4640T>C (n.*4640T>C) n.10T>C c.1170T>C (p.Thr390=) c.5-7106T>C (n.5-7106T>C) c.330T>C (p.Thr110=) c.-98-20867T>C (n.-98-20867T>C) n.4993T>C n.5034T>C | dbSNP |
17 | g.43071057A>T | CA500231791 | BRCA1 | c.4854T>A (p.Thr1618=) c.4857T>A (p.Thr1619=) c.4731T>A (p.Thr1577=) c.4851T>A (p.Thr1617=) c.4779T>A (p.Thr1593=) c.1545T>A (p.Thr515=) c.1407T>A (p.Thr469=) c.3969T>A (p.Thr1323=) c.4734T>A (p.Thr1578=) c.4923T>A (p.Thr1641=) c.4716T>A (p.Thr1572=) c.1419T>A (p.Thr473=) c.1464T>A (p.Thr488=) c.4920T>A (p.Thr1640=) c.1244T>A c.1431T>A (p.Thr477=) c.*4640T>A (n.*4640T>A) n.10T>A c.1170T>A (p.Thr390=) c.5-7106T>A (n.5-7106T>A) c.330T>A (p.Thr110=) c.-98-20867T>A (n.-98-20867T>A) n.4993T>A n.5034T>A | dbSNP |
17 | g.43071058G>A | CA10580507 | BRCA1 | c.4853C>T (p.Thr1618Ile) c.4856C>T (p.Thr1619Ile) c.4730C>T (p.Thr1577Ile) c.4850C>T (p.Thr1617Ile) c.4778C>T (p.Thr1593Ile) c.1544C>T (p.Thr515Ile) c.1406C>T (p.Thr469Ile) c.3968C>T (p.Thr1323Ile) c.4733C>T (p.Thr1578Ile) c.4922C>T (p.Thr1641Ile) c.4715C>T (p.Thr1572Ile) c.1418C>T (p.Thr473Ile) c.1463C>T (p.Thr488Ile) c.4919C>T (p.Thr1640Ile) c.1243C>T c.1430C>T (p.Thr477Ile) c.*4639C>T (n.*4639C>T) n.9C>T c.1169C>T (p.Thr390Ile) c.5-7107C>T (n.5-7107C>T) c.329C>T (p.Thr110Ile) c.-98-20868C>T (n.-98-20868C>T) n.4992C>T n.5033C>T | ClinVar dbSNP |
17 | g.43071058G>C | CA10591812 | BRCA1 | c.4853C>G (p.Thr1618Ser) c.4856C>G (p.Thr1619Ser) c.4730C>G (p.Thr1577Ser) c.4850C>G (p.Thr1617Ser) c.4778C>G (p.Thr1593Ser) c.1544C>G (p.Thr515Ser) c.1406C>G (p.Thr469Ser) c.3968C>G (p.Thr1323Ser) c.4733C>G (p.Thr1578Ser) c.4922C>G (p.Thr1641Ser) c.4715C>G (p.Thr1572Ser) c.1418C>G (p.Thr473Ser) c.1463C>G (p.Thr488Ser) c.4919C>G (p.Thr1640Ser) c.1243C>G c.1430C>G (p.Thr477Ser) c.*4639C>G (n.*4639C>G) n.9C>G c.1169C>G (p.Thr390Ser) c.5-7107C>G (n.5-7107C>G) c.329C>G (p.Thr110Ser) c.-98-20868C>G (n.-98-20868C>G) n.4992C>G n.5033C>G | dbSNP |
17 | g.43071058G= | CA2260772874 | BRCA1 | c.4853C= (p.Thr1618=) c.4856C= (p.Thr1619=) c.4730C= (p.Thr1577=) c.4850C= (p.Thr1617=) c.4778C= (p.Thr1593=) c.1544C= (p.Thr515=) c.1406C= (p.Thr469=) c.3968C= (p.Thr1323=) c.4733C= (p.Thr1578=) c.4922C= (p.Thr1641=) c.4715C= (p.Thr1572=) c.1418C= (p.Thr473=) c.1463C= (p.Thr488=) c.4919C= (p.Thr1640=) c.1243C= c.1430C= (p.Thr477=) c.*4639C= (n.*4639C=) n.9C= c.1169C= (p.Thr390=) c.5-7107C= (n.5-7107C=) c.329C= (p.Thr110=) c.-98-20868C= (n.-98-20868C=) n.4992C= n.5033C= | |
17 | g.43071058G>T | CA10591813 | BRCA1 | c.4853C>A (p.Thr1618Asn) c.4856C>A (p.Thr1619Asn) c.4730C>A (p.Thr1577Asn) c.4850C>A (p.Thr1617Asn) c.4778C>A (p.Thr1593Asn) c.1544C>A (p.Thr515Asn) c.1406C>A (p.Thr469Asn) c.3968C>A (p.Thr1323Asn) c.4733C>A (p.Thr1578Asn) c.4922C>A (p.Thr1641Asn) c.4715C>A (p.Thr1572Asn) c.1418C>A (p.Thr473Asn) c.1463C>A (p.Thr488Asn) c.4919C>A (p.Thr1640Asn) c.1243C>A c.1430C>A (p.Thr477Asn) c.*4639C>A (n.*4639C>A) n.9C>A c.1169C>A (p.Thr390Asn) c.5-7107C>A (n.5-7107C>A) c.329C>A (p.Thr110Asn) c.-98-20868C>A (n.-98-20868C>A) n.4992C>A n.5033C>A | |
17 | g.43071059T>A | CA10591814 | BRCA1 | c.4852A>T (p.Thr1618Ser) c.4855A>T (p.Thr1619Ser) c.4729A>T (p.Thr1577Ser) c.4849A>T (p.Thr1617Ser) c.4777A>T (p.Thr1593Ser) c.1543A>T (p.Thr515Ser) c.1405A>T (p.Thr469Ser) c.3967A>T (p.Thr1323Ser) c.4732A>T (p.Thr1578Ser) c.4921A>T (p.Thr1641Ser) c.4714A>T (p.Thr1572Ser) c.1417A>T (p.Thr473Ser) c.1462A>T (p.Thr488Ser) c.4918A>T (p.Thr1640Ser) c.1242A>T c.1429A>T (p.Thr477Ser) c.*4638A>T (n.*4638A>T) n.8A>T c.1168A>T (p.Thr390Ser) c.5-7108A>T (n.5-7108A>T) c.328A>T (p.Thr110Ser) c.-98-20869A>T (n.-98-20869A>T) n.4991A>T n.5032A>T | dbSNP COSMIC COSMIC |
17 | g.43071059T>C | CA10591815 | BRCA1 | c.4852A>G (p.Thr1618Ala) c.4855A>G (p.Thr1619Ala) c.4729A>G (p.Thr1577Ala) c.4849A>G (p.Thr1617Ala) c.4777A>G (p.Thr1593Ala) c.1543A>G (p.Thr515Ala) c.1405A>G (p.Thr469Ala) c.3967A>G (p.Thr1323Ala) c.4732A>G (p.Thr1578Ala) c.4921A>G (p.Thr1641Ala) c.4714A>G (p.Thr1572Ala) c.1417A>G (p.Thr473Ala) c.1462A>G (p.Thr488Ala) c.4918A>G (p.Thr1640Ala) c.1242A>G c.1429A>G (p.Thr477Ala) c.*4638A>G (n.*4638A>G) n.8A>G c.1168A>G (p.Thr390Ala) c.5-7108A>G (n.5-7108A>G) c.328A>G (p.Thr110Ala) c.-98-20869A>G (n.-98-20869A>G) n.4991A>G n.5032A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43071059T>G | CA10591816 | BRCA1 | c.4852A>C (p.Thr1618Pro) c.4855A>C (p.Thr1619Pro) c.4729A>C (p.Thr1577Pro) c.4849A>C (p.Thr1617Pro) c.4777A>C (p.Thr1593Pro) c.1543A>C (p.Thr515Pro) c.1405A>C (p.Thr469Pro) c.3967A>C (p.Thr1323Pro) c.4732A>C (p.Thr1578Pro) c.4921A>C (p.Thr1641Pro) c.4714A>C (p.Thr1572Pro) c.1417A>C (p.Thr473Pro) c.1462A>C (p.Thr488Pro) c.4918A>C (p.Thr1640Pro) c.1242A>C c.1429A>C (p.Thr477Pro) c.*4638A>C (n.*4638A>C) n.8A>C c.1168A>C (p.Thr390Pro) c.5-7108A>C (n.5-7108A>C) c.328A>C (p.Thr110Pro) c.-98-20869A>C (n.-98-20869A>C) n.4991A>C n.5032A>C | |
17 | g.43071060A= | CA2260772875 | BRCA1 | c.4851T= (p.His1617=) c.4854T= (p.His1618=) c.4728T= (p.His1576=) c.4848T= (p.His1616=) c.4776T= (p.His1592=) c.1542T= (p.His514=) c.1404T= (p.His468=) c.3966T= (p.His1322=) c.4731T= (p.His1577=) c.4920T= (p.His1640=) c.4713T= (p.His1571=) c.1416T= (p.His472=) c.1461T= (p.His487=) c.4917T= (p.His1639=) c.1241T= c.1428T= (p.His476=) c.*4637T= (n.*4637T=) n.7T= c.1167T= (p.His389=) c.5-7109T= (n.5-7109T=) c.327T= (p.His109=) c.-98-20870T= (n.-98-20870T=) n.4990T= n.5031T= | |
17 | g.43071060A>C | CA10591817 | BRCA1 | c.4851T>G (p.His1617Gln) c.4854T>G (p.His1618Gln) c.4728T>G (p.His1576Gln) c.4848T>G (p.His1616Gln) c.4776T>G (p.His1592Gln) c.1542T>G (p.His514Gln) c.1404T>G (p.His468Gln) c.3966T>G (p.His1322Gln) c.4731T>G (p.His1577Gln) c.4920T>G (p.His1640Gln) c.4713T>G (p.His1571Gln) c.1416T>G (p.His472Gln) c.1461T>G (p.His487Gln) c.4917T>G (p.His1639Gln) c.1241T>G c.1428T>G (p.His476Gln) c.*4637T>G (n.*4637T>G) n.7T>G c.1167T>G (p.His389Gln) c.5-7109T>G (n.5-7109T>G) c.327T>G (p.His109Gln) c.-98-20870T>G (n.-98-20870T>G) n.4990T>G n.5031T>G | |
17 | g.43071060A>G | CA053368 | BRCA1 | c.4851T>C (p.His1617=) c.4854T>C (p.His1618=) c.4728T>C (p.His1576=) c.4848T>C (p.His1616=) c.4776T>C (p.His1592=) c.1542T>C (p.His514=) c.1404T>C (p.His468=) c.3966T>C (p.His1322=) c.4731T>C (p.His1577=) c.4920T>C (p.His1640=) c.4713T>C (p.His1571=) c.1416T>C (p.His472=) c.1461T>C (p.His487=) c.4917T>C (p.His1639=) c.1241T>C c.1428T>C (p.His476=) c.*4637T>C (n.*4637T>C) n.7T>C c.1167T>C (p.His389=) c.5-7109T>C (n.5-7109T>C) c.327T>C (p.His109=) c.-98-20870T>C (n.-98-20870T>C) n.4990T>C n.5031T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43071060A>T | CA10591818 | BRCA1 | c.4851T>A (p.His1617Gln) c.4854T>A (p.His1618Gln) c.4728T>A (p.His1576Gln) c.4848T>A (p.His1616Gln) c.4776T>A (p.His1592Gln) c.1542T>A (p.His514Gln) c.1404T>A (p.His468Gln) c.3966T>A (p.His1322Gln) c.4731T>A (p.His1577Gln) c.4920T>A (p.His1640Gln) c.4713T>A (p.His1571Gln) c.1416T>A (p.His472Gln) c.1461T>A (p.His487Gln) c.4917T>A (p.His1639Gln) c.1241T>A c.1428T>A (p.His476Gln) c.*4637T>A (n.*4637T>A) n.7T>A c.1167T>A (p.His389Gln) c.5-7109T>A (n.5-7109T>A) c.327T>A (p.His109Gln) c.-98-20870T>A (n.-98-20870T>A) n.4990T>A n.5031T>A | dbSNP gnomAD v4 |
17 | g.43071061T>A | CA10591819 | BRCA1 | c.4850A>T (p.His1617Leu) c.4853A>T (p.His1618Leu) c.4727A>T (p.His1576Leu) c.4847A>T (p.His1616Leu) c.4775A>T (p.His1592Leu) c.1541A>T (p.His514Leu) c.1403A>T (p.His468Leu) c.3965A>T (p.His1322Leu) c.4730A>T (p.His1577Leu) c.4919A>T (p.His1640Leu) c.4712A>T (p.His1571Leu) c.1415A>T (p.His472Leu) c.1460A>T (p.His487Leu) c.4916A>T (p.His1639Leu) c.1240A>T c.1427A>T (p.His476Leu) c.*4636A>T (n.*4636A>T) n.6A>T c.1166A>T (p.His389Leu) c.5-7110A>T (n.5-7110A>T) c.326A>T (p.His109Leu) c.-98-20871A>T (n.-98-20871A>T) n.4989A>T n.5030A>T | dbSNP |
17 | g.43071061T>C | CA10591820 | BRCA1 | c.4850A>G (p.His1617Arg) c.4853A>G (p.His1618Arg) c.4727A>G (p.His1576Arg) c.4847A>G (p.His1616Arg) c.4775A>G (p.His1592Arg) c.1541A>G (p.His514Arg) c.1403A>G (p.His468Arg) c.3965A>G (p.His1322Arg) c.4730A>G (p.His1577Arg) c.4919A>G (p.His1640Arg) c.4712A>G (p.His1571Arg) c.1415A>G (p.His472Arg) c.1460A>G (p.His487Arg) c.4916A>G (p.His1639Arg) c.1240A>G c.1427A>G (p.His476Arg) c.*4636A>G (n.*4636A>G) n.6A>G c.1166A>G (p.His389Arg) c.5-7110A>G (n.5-7110A>G) c.326A>G (p.His109Arg) c.-98-20871A>G (n.-98-20871A>G) n.4989A>G n.5030A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43071061T>G | CA10591821 | BRCA1 | c.4850A>C (p.His1617Pro) c.4853A>C (p.His1618Pro) c.4727A>C (p.His1576Pro) c.4847A>C (p.His1616Pro) c.4775A>C (p.His1592Pro) c.1541A>C (p.His514Pro) c.1403A>C (p.His468Pro) c.3965A>C (p.His1322Pro) c.4730A>C (p.His1577Pro) c.4919A>C (p.His1640Pro) c.4712A>C (p.His1571Pro) c.1415A>C (p.His472Pro) c.1460A>C (p.His487Pro) c.4916A>C (p.His1639Pro) c.1240A>C c.1427A>C (p.His476Pro) c.*4636A>C (n.*4636A>C) n.6A>C c.1166A>C (p.His389Pro) c.5-7110A>C (n.5-7110A>C) c.326A>C (p.His109Pro) c.-98-20871A>C (n.-98-20871A>C) n.4989A>C n.5030A>C | |
17 | g.43071061T= | CA2260772876 | BRCA1 | c.4850A= (p.His1617=) c.4853A= (p.His1618=) c.4727A= (p.His1576=) c.4847A= (p.His1616=) c.4775A= (p.His1592=) c.1541A= (p.His514=) c.1403A= (p.His468=) c.3965A= (p.His1322=) c.4730A= (p.His1577=) c.4919A= (p.His1640=) c.4712A= (p.His1571=) c.1415A= (p.His472=) c.1460A= (p.His487=) c.4916A= (p.His1639=) c.1240A= c.1427A= (p.His476=) c.*4636A= (n.*4636A=) n.6A= c.1166A= (p.His389=) c.5-7110A= (n.5-7110A=) c.326A= (p.His109=) c.-98-20871A= (n.-98-20871A=) n.4989A= n.5030A= | |
17 | g.43071062G>A | CA053358 | BRCA1 | c.4849C>T (p.His1617Tyr) c.4852C>T (p.His1618Tyr) c.4726C>T (p.His1576Tyr) c.4846C>T (p.His1616Tyr) c.4774C>T (p.His1592Tyr) c.1540C>T (p.His514Tyr) c.1402C>T (p.His468Tyr) c.3964C>T (p.His1322Tyr) c.4729C>T (p.His1577Tyr) c.4918C>T (p.His1640Tyr) c.4711C>T (p.His1571Tyr) c.1414C>T (p.His472Tyr) c.1459C>T (p.His487Tyr) c.4915C>T (p.His1639Tyr) c.1239C>T c.1426C>T (p.His476Tyr) c.*4635C>T (n.*4635C>T) n.5C>T c.1165C>T (p.His389Tyr) c.5-7111C>T (n.5-7111C>T) c.325C>T (p.His109Tyr) c.-98-20872C>T (n.-98-20872C>T) n.4988C>T n.5029C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43071062G>C | CA10591822 | BRCA1 | c.4849C>G (p.His1617Asp) c.4852C>G (p.His1618Asp) c.4726C>G (p.His1576Asp) c.4846C>G (p.His1616Asp) c.4774C>G (p.His1592Asp) c.1540C>G (p.His514Asp) c.1402C>G (p.His468Asp) c.3964C>G (p.His1322Asp) c.4729C>G (p.His1577Asp) c.4918C>G (p.His1640Asp) c.4711C>G (p.His1571Asp) c.1414C>G (p.His472Asp) c.1459C>G (p.His487Asp) c.4915C>G (p.His1639Asp) c.1239C>G c.1426C>G (p.His476Asp) c.*4635C>G (n.*4635C>G) n.5C>G c.1165C>G (p.His389Asp) c.5-7111C>G (n.5-7111C>G) c.325C>G (p.His109Asp) c.-98-20872C>G (n.-98-20872C>G) n.4988C>G n.5029C>G | dbSNP |
17 | g.43071062G= | CA2260772877 | BRCA1 | c.4849C= (p.His1617=) c.4852C= (p.His1618=) c.4726C= (p.His1576=) c.4846C= (p.His1616=) c.4774C= (p.His1592=) c.1540C= (p.His514=) c.1402C= (p.His468=) c.3964C= (p.His1322=) c.4729C= (p.His1577=) c.4918C= (p.His1640=) c.4711C= (p.His1571=) c.1414C= (p.His472=) c.1459C= (p.His487=) c.4915C= (p.His1639=) c.1239C= c.1426C= (p.His476=) c.*4635C= (n.*4635C=) n.5C= c.1165C= (p.His389=) c.5-7111C= (n.5-7111C=) c.325C= (p.His109=) c.-98-20872C= (n.-98-20872C=) n.4988C= n.5029C= | |
17 | g.43071062G>T | CA10584552 | BRCA1 | c.4849C>A (p.His1617Asn) c.4852C>A (p.His1618Asn) c.4726C>A (p.His1576Asn) c.4846C>A (p.His1616Asn) c.4774C>A (p.His1592Asn) c.1540C>A (p.His514Asn) c.1402C>A (p.His468Asn) c.3964C>A (p.His1322Asn) c.4729C>A (p.His1577Asn) c.4918C>A (p.His1640Asn) c.4711C>A (p.His1571Asn) c.1414C>A (p.His472Asn) c.1459C>A (p.His487Asn) c.4915C>A (p.His1639Asn) c.1239C>A c.1426C>A (p.His476Asn) c.*4635C>A (n.*4635C>A) n.5C>A c.1165C>A (p.His389Asn) c.5-7111C>A (n.5-7111C>A) c.325C>A (p.His109Asn) c.-98-20872C>A (n.-98-20872C>A) n.4988C>A n.5029C>A | ClinVar dbSNP |
17 | g.43071063A= | CA2260772878 | BRCA1 | c.4848T= (p.Ala1616=) c.4851T= (p.Ala1617=) c.4725T= (p.Ala1575=) c.4845T= (p.Ala1615=) c.4773T= (p.Ala1591=) c.1539T= (p.Ala513=) c.1401T= (p.Ala467=) c.3963T= (p.Ala1321=) c.4728T= (p.Ala1576=) c.4917T= (p.Ala1639=) c.4710T= (p.Ala1570=) c.1413T= (p.Ala471=) c.1458T= (p.Ala486=) c.4914T= (p.Ala1638=) c.1238T= c.1425T= (p.Ala475=) c.*4634T= (n.*4634T=) n.4T= c.1164T= (p.Ala388=) c.5-7112T= (n.5-7112T=) c.324T= (p.Ala108=) c.-98-20873T= (n.-98-20873T=) n.4987T= n.5028T= | |
17 | g.43071063A>C | CA500231793 | BRCA1 | c.4848T>G (p.Ala1616=) c.4851T>G (p.Ala1617=) c.4725T>G (p.Ala1575=) c.4845T>G (p.Ala1615=) c.4773T>G (p.Ala1591=) c.1539T>G (p.Ala513=) c.1401T>G (p.Ala467=) c.3963T>G (p.Ala1321=) c.4728T>G (p.Ala1576=) c.4917T>G (p.Ala1639=) c.4710T>G (p.Ala1570=) c.1413T>G (p.Ala471=) c.1458T>G (p.Ala486=) c.4914T>G (p.Ala1638=) c.1238T>G c.1425T>G (p.Ala475=) c.*4634T>G (n.*4634T>G) n.4T>G c.1164T>G (p.Ala388=) c.5-7112T>G (n.5-7112T>G) c.324T>G (p.Ala108=) c.-98-20873T>G (n.-98-20873T>G) n.4987T>G n.5028T>G | |
17 | g.43071063A>G | CA003053 | BRCA1 | c.4848T>C (p.Ala1616=) c.4851T>C (p.Ala1617=) c.4725T>C (p.Ala1575=) c.4845T>C (p.Ala1615=) c.4773T>C (p.Ala1591=) c.1539T>C (p.Ala513=) c.1401T>C (p.Ala467=) c.3963T>C (p.Ala1321=) c.4728T>C (p.Ala1576=) c.4917T>C (p.Ala1639=) c.4710T>C (p.Ala1570=) c.1413T>C (p.Ala471=) c.1458T>C (p.Ala486=) c.4914T>C (p.Ala1638=) c.1238T>C c.1425T>C (p.Ala475=) c.*4634T>C (n.*4634T>C) n.4T>C c.1164T>C (p.Ala388=) c.5-7112T>C (n.5-7112T>C) c.324T>C (p.Ala108=) c.-98-20873T>C (n.-98-20873T>C) n.4987T>C n.5028T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43071063A>T | CA500231794 | BRCA1 | c.4848T>A (p.Ala1616=) c.4851T>A (p.Ala1617=) c.4725T>A (p.Ala1575=) c.4845T>A (p.Ala1615=) c.4773T>A (p.Ala1591=) c.1539T>A (p.Ala513=) c.1401T>A (p.Ala467=) c.3963T>A (p.Ala1321=) c.4728T>A (p.Ala1576=) c.4917T>A (p.Ala1639=) c.4710T>A (p.Ala1570=) c.1413T>A (p.Ala471=) c.1458T>A (p.Ala486=) c.4914T>A (p.Ala1638=) c.1238T>A c.1425T>A (p.Ala475=) c.*4634T>A (n.*4634T>A) n.4T>A c.1164T>A (p.Ala388=) c.5-7112T>A (n.5-7112T>A) c.324T>A (p.Ala108=) c.-98-20873T>A (n.-98-20873T>A) n.4987T>A n.5028T>A | dbSNP |
17 | g.43071064G>A | CA10591823 | BRCA1 | c.4847C>T (p.Ala1616Val) c.4850C>T (p.Ala1617Val) c.4724C>T (p.Ala1575Val) c.4844C>T (p.Ala1615Val) c.4772C>T (p.Ala1591Val) c.1538C>T (p.Ala513Val) c.1400C>T (p.Ala467Val) c.3962C>T (p.Ala1321Val) c.4727C>T (p.Ala1576Val) c.4916C>T (p.Ala1639Val) c.4709C>T (p.Ala1570Val) c.1412C>T (p.Ala471Val) c.1457C>T (p.Ala486Val) c.4913C>T (p.Ala1638Val) c.1237C>T c.1424C>T (p.Ala475Val) c.*4633C>T (n.*4633C>T) n.3C>T c.1163C>T (p.Ala388Val) c.5-7113C>T (n.5-7113C>T) c.323C>T (p.Ala108Val) c.-98-20874C>T (n.-98-20874C>T) n.4986C>T n.5027C>T | ClinVar dbSNP |
17 | g.43071064G>C | CA10591824 | BRCA1 | c.4847C>G (p.Ala1616Gly) c.4850C>G (p.Ala1617Gly) c.4724C>G (p.Ala1575Gly) c.4844C>G (p.Ala1615Gly) c.4772C>G (p.Ala1591Gly) c.1538C>G (p.Ala513Gly) c.1400C>G (p.Ala467Gly) c.3962C>G (p.Ala1321Gly) c.4727C>G (p.Ala1576Gly) c.4916C>G (p.Ala1639Gly) c.4709C>G (p.Ala1570Gly) c.1412C>G (p.Ala471Gly) c.1457C>G (p.Ala486Gly) c.4913C>G (p.Ala1638Gly) c.1237C>G c.1424C>G (p.Ala475Gly) c.*4633C>G (n.*4633C>G) n.3C>G c.1163C>G (p.Ala388Gly) c.5-7113C>G (n.5-7113C>G) c.323C>G (p.Ala108Gly) c.-98-20874C>G (n.-98-20874C>G) n.4986C>G n.5027C>G | dbSNP |
17 | g.43071064G= | CA2260772879 | BRCA1 | c.4847C= (p.Ala1616=) c.4850C= (p.Ala1617=) c.4724C= (p.Ala1575=) c.4844C= (p.Ala1615=) c.4772C= (p.Ala1591=) c.1538C= (p.Ala513=) c.1400C= (p.Ala467=) c.3962C= (p.Ala1321=) c.4727C= (p.Ala1576=) c.4916C= (p.Ala1639=) c.4709C= (p.Ala1570=) c.1412C= (p.Ala471=) c.1457C= (p.Ala486=) c.4913C= (p.Ala1638=) c.1237C= c.1424C= (p.Ala475=) c.*4633C= (n.*4633C=) n.3C= c.1163C= (p.Ala388=) c.5-7113C= (n.5-7113C=) c.323C= (p.Ala108=) c.-98-20874C= (n.-98-20874C=) n.4986C= n.5027C= | |
17 | g.43071064G>T | CA10591825 | BRCA1 | c.4847C>A (p.Ala1616Asp) c.4850C>A (p.Ala1617Asp) c.4724C>A (p.Ala1575Asp) c.4844C>A (p.Ala1615Asp) c.4772C>A (p.Ala1591Asp) c.1538C>A (p.Ala513Asp) c.1400C>A (p.Ala467Asp) c.3962C>A (p.Ala1321Asp) c.4727C>A (p.Ala1576Asp) c.4916C>A (p.Ala1639Asp) c.4709C>A (p.Ala1570Asp) c.1412C>A (p.Ala471Asp) c.1457C>A (p.Ala486Asp) c.4913C>A (p.Ala1638Asp) c.1237C>A c.1424C>A (p.Ala475Asp) c.*4633C>A (n.*4633C>A) n.3C>A c.1163C>A (p.Ala388Asp) c.5-7113C>A (n.5-7113C>A) c.323C>A (p.Ala108Asp) c.-98-20874C>A (n.-98-20874C>A) n.4986C>A n.5027C>A | dbSNP |
17 | g.43071065C>A | CA10591826 | BRCA1 | c.4846G>T (p.Ala1616Ser) c.4849G>T (p.Ala1617Ser) c.4723G>T (p.Ala1575Ser) c.4843G>T (p.Ala1615Ser) c.4771G>T (p.Ala1591Ser) c.1537G>T (p.Ala513Ser) c.1399G>T (p.Ala467Ser) c.3961G>T (p.Ala1321Ser) c.4726G>T (p.Ala1576Ser) c.4915G>T (p.Ala1639Ser) c.4708G>T (p.Ala1570Ser) c.1411G>T (p.Ala471Ser) c.1456G>T (p.Ala486Ser) c.4912G>T (p.Ala1638Ser) c.1236G>T c.1423G>T (p.Ala475Ser) c.*4632G>T (n.*4632G>T) n.2G>T c.1162G>T (p.Ala388Ser) c.5-7114G>T (n.5-7114G>T) c.322G>T (p.Ala108Ser) c.-98-20875G>T (n.-98-20875G>T) n.4985G>T n.5026G>T | ClinVar dbSNP |
17 | g.43071065C>G | CA10591827 | BRCA1 | c.4846G>C (p.Ala1616Pro) c.4849G>C (p.Ala1617Pro) c.4723G>C (p.Ala1575Pro) c.4843G>C (p.Ala1615Pro) c.4771G>C (p.Ala1591Pro) c.1537G>C (p.Ala513Pro) c.1399G>C (p.Ala467Pro) c.3961G>C (p.Ala1321Pro) c.4726G>C (p.Ala1576Pro) c.4915G>C (p.Ala1639Pro) c.4708G>C (p.Ala1570Pro) c.1411G>C (p.Ala471Pro) c.1456G>C (p.Ala486Pro) c.4912G>C (p.Ala1638Pro) c.1236G>C c.1423G>C (p.Ala475Pro) c.*4632G>C (n.*4632G>C) n.2G>C c.1162G>C (p.Ala388Pro) c.5-7114G>C (n.5-7114G>C) c.322G>C (p.Ala108Pro) c.-98-20875G>C (n.-98-20875G>C) n.4985G>C n.5026G>C | dbSNP |
17 | g.43071065C>T | CA10591828 | BRCA1 | c.4846G>A (p.Ala1616Thr) c.4849G>A (p.Ala1617Thr) c.4723G>A (p.Ala1575Thr) c.4843G>A (p.Ala1615Thr) c.4771G>A (p.Ala1591Thr) c.1537G>A (p.Ala513Thr) c.1399G>A (p.Ala467Thr) c.3961G>A (p.Ala1321Thr) c.4726G>A (p.Ala1576Thr) c.4915G>A (p.Ala1639Thr) c.4708G>A (p.Ala1570Thr) c.1411G>A (p.Ala471Thr) c.1456G>A (p.Ala486Thr) c.4912G>A (p.Ala1638Thr) c.1236G>A c.1423G>A (p.Ala475Thr) c.*4632G>A (n.*4632G>A) n.2G>A c.1162G>A (p.Ala388Thr) c.5-7114G>A (n.5-7114G>A) c.322G>A (p.Ala108Thr) c.-98-20875G>A (n.-98-20875G>A) n.4985G>A n.5026G>A | ClinVar dbSNP |
17 | g.43071066A= | CA2260772880 | BRCA1 | c.4845T= (p.Ala1615=) c.4848T= (p.Ala1616=) c.4722T= (p.Ala1574=) c.4842T= (p.Ala1614=) c.4770T= (p.Ala1590=) c.1536T= (p.Ala512=) c.1398T= (p.Ala466=) c.3960T= (p.Ala1320=) c.4725T= (p.Ala1575=) c.4914T= (p.Ala1638=) c.4707T= (p.Ala1569=) c.1410T= (p.Ala470=) c.1455T= (p.Ala485=) c.4911T= (p.Ala1637=) c.1235T= c.1422T= (p.Ala474=) c.*4631T= (n.*4631T=) n.1T= c.1161T= (p.Ala387=) c.5-7115T= (n.5-7115T=) c.321T= (p.Ala107=) c.-98-20876T= (n.-98-20876T=) n.4984T= n.5025T= | |
17 | g.43071066A>C | CA500231800 | BRCA1 | c.4845T>G (p.Ala1615=) c.4848T>G (p.Ala1616=) c.4722T>G (p.Ala1574=) c.4842T>G (p.Ala1614=) c.4770T>G (p.Ala1590=) c.1536T>G (p.Ala512=) c.1398T>G (p.Ala466=) c.3960T>G (p.Ala1320=) c.4725T>G (p.Ala1575=) c.4914T>G (p.Ala1638=) c.4707T>G (p.Ala1569=) c.1410T>G (p.Ala470=) c.1455T>G (p.Ala485=) c.4911T>G (p.Ala1637=) c.1235T>G c.1422T>G (p.Ala474=) c.*4631T>G (n.*4631T>G) n.1T>G c.1161T>G (p.Ala387=) c.5-7115T>G (n.5-7115T>G) c.321T>G (p.Ala107=) c.-98-20876T>G (n.-98-20876T>G) n.4984T>G n.5025T>G | |
17 | g.43071066A>G | CA500231798 | BRCA1 | c.4845T>C (p.Ala1615=) c.4848T>C (p.Ala1616=) c.4722T>C (p.Ala1574=) c.4842T>C (p.Ala1614=) c.4770T>C (p.Ala1590=) c.1536T>C (p.Ala512=) c.1398T>C (p.Ala466=) c.3960T>C (p.Ala1320=) c.4725T>C (p.Ala1575=) c.4914T>C (p.Ala1638=) c.4707T>C (p.Ala1569=) c.1410T>C (p.Ala470=) c.1455T>C (p.Ala485=) c.4911T>C (p.Ala1637=) c.1235T>C c.1422T>C (p.Ala474=) c.*4631T>C (n.*4631T>C) n.1T>C c.1161T>C (p.Ala387=) c.5-7115T>C (n.5-7115T>C) c.321T>C (p.Ala107=) c.-98-20876T>C (n.-98-20876T>C) n.4984T>C n.5025T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43071066A>T | CA500231799 | BRCA1 | c.4845T>A (p.Ala1615=) c.4848T>A (p.Ala1616=) c.4722T>A (p.Ala1574=) c.4842T>A (p.Ala1614=) c.4770T>A (p.Ala1590=) c.1536T>A (p.Ala512=) c.1398T>A (p.Ala466=) c.3960T>A (p.Ala1320=) c.4725T>A (p.Ala1575=) c.4914T>A (p.Ala1638=) c.4707T>A (p.Ala1569=) c.1410T>A (p.Ala470=) c.1455T>A (p.Ala485=) c.4911T>A (p.Ala1637=) c.1235T>A c.1422T>A (p.Ala474=) c.*4631T>A (n.*4631T>A) n.1T>A c.1161T>A (p.Ala387=) c.5-7115T>A (n.5-7115T>A) c.321T>A (p.Ala107=) c.-98-20876T>A (n.-98-20876T>A) n.4984T>A n.5025T>A | dbSNP |
17 | g.43071066_43071081delinsAGCAGCTGGACTCTGG | CA2260772881 | BRCA1 | c.4830_4845delinsCCAGAGTCCAGCTGCT (p.Ala1610=) c.4833_4848delinsCCAGAGTCCAGCTGCT (p.Ala1611=) c.4707_4722delinsCCAGAGTCCAGCTGCT (p.Ala1569=) c.4827_4842delinsCCAGAGTCCAGCTGCT (p.Ala1609=) c.4755_4770delinsCCAGAGTCCAGCTGCT (p.Ala1585=) c.1521_1536delinsCCAGAGTCCAGCTGCT (p.Ala507=) c.1383_1398delinsCCAGAGTCCAGCTGCT (p.Ala461=) c.3945_3960delinsCCAGAGTCCAGCTGCT (p.Ala1315=) c.4710_4725delinsCCAGAGTCCAGCTGCT (p.Ala1570=) c.4899_4914delinsCCAGAGTCCAGCTGCT (p.Ala1633=) c.4692_4707delinsCCAGAGTCCAGCTGCT (p.Ala1564=) c.1395_1410delinsCCAGAGTCCAGCTGCT (p.Ala465=) c.1440_1455delinsCCAGAGTCCAGCTGCT (p.Ala480=) c.4896_4911delinsCCAGAGTCCAGCTGCT (p.Ala1632=) c.1220_1235delinsCCAGAGTCCAGCTGCT c.1407_1422delinsCCAGAGTCCAGCTGCT (p.Ala469=) c.*4616_*4631delinsCCAGAGTCCAGCTGCT (n.*4616_*4631delinsCCAGAGTCCAGCTGCT) c.1146_1161delinsCCAGAGTCCAGCTGCT (p.Ala382=) c.5-7130_5-7115delinsCCAGAGTCCAGCTGCT (n.5-7130_5-7115delinsCCAGAGTCCAGCTGCT) c.306_321delinsCCAGAGTCCAGCTGCT (p.Ala102=) c.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT (n.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT) n.4969_4984delinsCCAGAGTCCAGCTGCT n.5010_5025delinsCCAGAGTCCAGCTGCT | |
17 | g.43071067G>A | CA10591829 | BRCA1 | c.4844C>T (p.Ala1615Val) c.4847C>T (p.Ala1616Val) c.4721C>T (p.Ala1574Val) c.4841C>T (p.Ala1614Val) c.4769C>T (p.Ala1590Val) c.1535C>T (p.Ala512Val) c.1397C>T (p.Ala466Val) c.3959C>T (p.Ala1320Val) c.4724C>T (p.Ala1575Val) c.4913C>T (p.Ala1638Val) c.4706C>T (p.Ala1569Val) c.1409C>T (p.Ala470Val) c.1454C>T (p.Ala485Val) c.4910C>T (p.Ala1637Val) c.1234C>T c.1421C>T (p.Ala474Val) c.*4630C>T (n.*4630C>T) c.1160C>T (p.Ala387Val) c.5-7116C>T (n.5-7116C>T) c.320C>T (p.Ala107Val) c.-98-20877C>T (n.-98-20877C>T) n.4983C>T n.5024C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43071067G>C | CA10591830 | BRCA1 | c.4844C>G (p.Ala1615Gly) c.4847C>G (p.Ala1616Gly) c.4721C>G (p.Ala1574Gly) c.4841C>G (p.Ala1614Gly) c.4769C>G (p.Ala1590Gly) c.1535C>G (p.Ala512Gly) c.1397C>G (p.Ala466Gly) c.3959C>G (p.Ala1320Gly) c.4724C>G (p.Ala1575Gly) c.4913C>G (p.Ala1638Gly) c.4706C>G (p.Ala1569Gly) c.1409C>G (p.Ala470Gly) c.1454C>G (p.Ala485Gly) c.4910C>G (p.Ala1637Gly) c.1234C>G c.1421C>G (p.Ala474Gly) c.*4630C>G (n.*4630C>G) c.1160C>G (p.Ala387Gly) c.5-7116C>G (n.5-7116C>G) c.320C>G (p.Ala107Gly) c.-98-20877C>G (n.-98-20877C>G) n.4983C>G n.5024C>G | dbSNP |
17 | g.43071067G= | CA2260772882 | BRCA1 | c.4844C= (p.Ala1615=) c.4847C= (p.Ala1616=) c.4721C= (p.Ala1574=) c.4841C= (p.Ala1614=) c.4769C= (p.Ala1590=) c.1535C= (p.Ala512=) c.1397C= (p.Ala466=) c.3959C= (p.Ala1320=) c.4724C= (p.Ala1575=) c.4913C= (p.Ala1638=) c.4706C= (p.Ala1569=) c.1409C= (p.Ala470=) c.1454C= (p.Ala485=) c.4910C= (p.Ala1637=) c.1234C= c.1421C= (p.Ala474=) c.*4630C= (n.*4630C=) c.1160C= (p.Ala387=) c.5-7116C= (n.5-7116C=) c.320C= (p.Ala107=) c.-98-20877C= (n.-98-20877C=) n.4983C= n.5024C= | |
17 | g.43071067G>T | CA10591831 | BRCA1 | c.4844C>A (p.Ala1615Asp) c.4847C>A (p.Ala1616Asp) c.4721C>A (p.Ala1574Asp) c.4841C>A (p.Ala1614Asp) c.4769C>A (p.Ala1590Asp) c.1535C>A (p.Ala512Asp) c.1397C>A (p.Ala466Asp) c.3959C>A (p.Ala1320Asp) c.4724C>A (p.Ala1575Asp) c.4913C>A (p.Ala1638Asp) c.4706C>A (p.Ala1569Asp) c.1409C>A (p.Ala470Asp) c.1454C>A (p.Ala485Asp) c.4910C>A (p.Ala1637Asp) c.1234C>A c.1421C>A (p.Ala474Asp) c.*4630C>A (n.*4630C>A) c.1160C>A (p.Ala387Asp) c.5-7116C>A (n.5-7116C>A) c.320C>A (p.Ala107Asp) c.-98-20877C>A (n.-98-20877C>A) n.4983C>A n.5024C>A | |
17 | g.43071071_43071085del | CA658825004 | BRCA1 | c.4830_4844del (p.Gln1611_Ala1615del) c.4833_4847del (p.Gln1612_Ala1616del) c.4707_4721del (p.Gln1570_Ala1574del) c.4827_4841del (p.Gln1610_Ala1614del) c.4755_4769del (p.Gln1586_Ala1590del) c.1521_1535del (p.Gln508_Ala512del) c.1383_1397del (p.Gln462_Ala466del) c.3945_3959del (p.Gln1316_Ala1320del) c.4710_4724del (p.Gln1571_Ala1575del) c.4899_4913del (p.Gln1634_Ala1638del) c.4692_4706del (p.Gln1565_Ala1569del) c.1395_1409del (p.Gln466_Ala470del) c.1440_1454del (p.Gln481_Ala485del) c.4896_4910del (p.Gln1633_Ala1637del) c.1220_1234del c.1407_1421del (p.Gln470_Ala474del) c.*4616_*4630del (n.*4616_*4630del) c.1146_1160del (p.Gln383_Ala387del) c.5-7130_5-7116del (n.5-7130_5-7116del) c.306_320del (p.Gln103_Ala107del) c.-98-20891_-98-20877del (n.-98-20891_-98-20877del) n.4969_4983del n.5010_5024del | ClinVar dbSNP |
17 | g.43071068C>A | CA10591832 | BRCA1 | c.4843G>T (p.Ala1615Ser) c.4846G>T (p.Ala1616Ser) c.4720G>T (p.Ala1574Ser) c.4840G>T (p.Ala1614Ser) c.4768G>T (p.Ala1590Ser) c.1534G>T (p.Ala512Ser) c.1396G>T (p.Ala466Ser) c.3958G>T (p.Ala1320Ser) c.4723G>T (p.Ala1575Ser) c.4912G>T (p.Ala1638Ser) c.4705G>T (p.Ala1569Ser) c.1408G>T (p.Ala470Ser) c.1453G>T (p.Ala485Ser) c.4909G>T (p.Ala1637Ser) c.1233G>T c.1420G>T (p.Ala474Ser) c.*4629G>T (n.*4629G>T) c.1159G>T (p.Ala387Ser) c.5-7117G>T (n.5-7117G>T) c.319G>T (p.Ala107Ser) c.-98-20878G>T (n.-98-20878G>T) n.4982G>T n.5023G>T | dbSNP |
17 | g.43071068C= | CA2260772883 | BRCA1 | c.4843G= (p.Ala1615=) c.4846G= (p.Ala1616=) c.4720G= (p.Ala1574=) c.4840G= (p.Ala1614=) c.4768G= (p.Ala1590=) c.1534G= (p.Ala512=) c.1396G= (p.Ala466=) c.3958G= (p.Ala1320=) c.4723G= (p.Ala1575=) c.4912G= (p.Ala1638=) c.4705G= (p.Ala1569=) c.1408G= (p.Ala470=) c.1453G= (p.Ala485=) c.4909G= (p.Ala1637=) c.1233G= c.1420G= (p.Ala474=) c.*4629G= (n.*4629G=) c.1159G= (p.Ala387=) c.5-7117G= (n.5-7117G=) c.319G= (p.Ala107=) c.-98-20878G= (n.-98-20878G=) n.4982G= n.5023G= | |
17 | g.43071068C>G | CA10591833 | BRCA1 | c.4843G>C (p.Ala1615Pro) c.4846G>C (p.Ala1616Pro) c.4720G>C (p.Ala1574Pro) c.4840G>C (p.Ala1614Pro) c.4768G>C (p.Ala1590Pro) c.1534G>C (p.Ala512Pro) c.1396G>C (p.Ala466Pro) c.3958G>C (p.Ala1320Pro) c.4723G>C (p.Ala1575Pro) c.4912G>C (p.Ala1638Pro) c.4705G>C (p.Ala1569Pro) c.1408G>C (p.Ala470Pro) c.1453G>C (p.Ala485Pro) c.4909G>C (p.Ala1637Pro) c.1233G>C c.1420G>C (p.Ala474Pro) c.*4629G>C (n.*4629G>C) c.1159G>C (p.Ala387Pro) c.5-7117G>C (n.5-7117G>C) c.319G>C (p.Ala107Pro) c.-98-20878G>C (n.-98-20878G>C) n.4982G>C n.5023G>C | ClinVar dbSNP |
17 | g.43071068C>T | CA10591834 | BRCA1 | c.4843G>A (p.Ala1615Thr) c.4846G>A (p.Ala1616Thr) c.4720G>A (p.Ala1574Thr) c.4840G>A (p.Ala1614Thr) c.4768G>A (p.Ala1590Thr) c.1534G>A (p.Ala512Thr) c.1396G>A (p.Ala466Thr) c.3958G>A (p.Ala1320Thr) c.4723G>A (p.Ala1575Thr) c.4912G>A (p.Ala1638Thr) c.4705G>A (p.Ala1569Thr) c.1408G>A (p.Ala470Thr) c.1453G>A (p.Ala485Thr) c.4909G>A (p.Ala1637Thr) c.1233G>A c.1420G>A (p.Ala474Thr) c.*4629G>A (n.*4629G>A) c.1159G>A (p.Ala387Thr) c.5-7117G>A (n.5-7117G>A) c.319G>A (p.Ala107Thr) c.-98-20878G>A (n.-98-20878G>A) n.4982G>A n.5023G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43071069A= | CA2260772884 | BRCA1 | c.4842T= (p.Ala1614=) c.4845T= (p.Ala1615=) c.4719T= (p.Ala1573=) c.4839T= (p.Ala1613=) c.4767T= (p.Ala1589=) c.1533T= (p.Ala511=) c.1395T= (p.Ala465=) c.3957T= (p.Ala1319=) c.4722T= (p.Ala1574=) c.4911T= (p.Ala1637=) c.4704T= (p.Ala1568=) c.1407T= (p.Ala469=) c.1452T= (p.Ala484=) c.4908T= (p.Ala1636=) c.1232T= c.1419T= (p.Ala473=) c.*4628T= (n.*4628T=) c.1158T= (p.Ala386=) c.5-7118T= (n.5-7118T=) c.318T= (p.Ala106=) c.-98-20879T= (n.-98-20879T=) n.4981T= n.5022T= | |
17 | g.43071069A>C | CA500231802 | BRCA1 | c.4842T>G (p.Ala1614=) c.4845T>G (p.Ala1615=) c.4719T>G (p.Ala1573=) c.4839T>G (p.Ala1613=) c.4767T>G (p.Ala1589=) c.1533T>G (p.Ala511=) c.1395T>G (p.Ala465=) c.3957T>G (p.Ala1319=) c.4722T>G (p.Ala1574=) c.4911T>G (p.Ala1637=) c.4704T>G (p.Ala1568=) c.1407T>G (p.Ala469=) c.1452T>G (p.Ala484=) c.4908T>G (p.Ala1636=) c.1232T>G c.1419T>G (p.Ala473=) c.*4628T>G (n.*4628T>G) c.1158T>G (p.Ala386=) c.5-7118T>G (n.5-7118T>G) c.318T>G (p.Ala106=) c.-98-20879T>G (n.-98-20879T>G) n.4981T>G n.5022T>G | |
17 | g.43071069A>G | CA003051 | BRCA1 | c.4842T>C (p.Ala1614=) c.4845T>C (p.Ala1615=) c.4719T>C (p.Ala1573=) c.4839T>C (p.Ala1613=) c.4767T>C (p.Ala1589=) c.1533T>C (p.Ala511=) c.1395T>C (p.Ala465=) c.3957T>C (p.Ala1319=) c.4722T>C (p.Ala1574=) c.4911T>C (p.Ala1637=) c.4704T>C (p.Ala1568=) c.1407T>C (p.Ala469=) c.1452T>C (p.Ala484=) c.4908T>C (p.Ala1636=) c.1232T>C c.1419T>C (p.Ala473=) c.*4628T>C (n.*4628T>C) c.1158T>C (p.Ala386=) c.5-7118T>C (n.5-7118T>C) c.318T>C (p.Ala106=) c.-98-20879T>C (n.-98-20879T>C) n.4981T>C n.5022T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071069A>T | CA500231803 | BRCA1 | c.4842T>A (p.Ala1614=) c.4845T>A (p.Ala1615=) c.4719T>A (p.Ala1573=) c.4839T>A (p.Ala1613=) c.4767T>A (p.Ala1589=) c.1533T>A (p.Ala511=) c.1395T>A (p.Ala465=) c.3957T>A (p.Ala1319=) c.4722T>A (p.Ala1574=) c.4911T>A (p.Ala1637=) c.4704T>A (p.Ala1568=) c.1407T>A (p.Ala469=) c.1452T>A (p.Ala484=) c.4908T>A (p.Ala1636=) c.1232T>A c.1419T>A (p.Ala473=) c.*4628T>A (n.*4628T>A) c.1158T>A (p.Ala386=) c.5-7118T>A (n.5-7118T>A) c.318T>A (p.Ala106=) c.-98-20879T>A (n.-98-20879T>A) n.4981T>A n.5022T>A | dbSNP |
17 | g.43071069_43071072dup | CA2580094020 | BRCA1 | c.4839_4842dup (p.Ala1615SerfsTer7) c.4842_4845dup (p.Ala1616SerfsTer7) c.4716_4719dup (p.Ala1574SerfsTer7) c.4836_4839dup (p.Ala1614SerfsTer7) c.4764_4767dup (p.Ala1590SerfsTer7) c.1530_1533dup (p.Ala512SerfsTer7) c.1392_1395dup (p.Ala466SerfsTer7) c.3954_3957dup (p.Ala1320SerfsTer7) c.4719_4722dup (p.Ala1575SerfsTer7) c.4908_4911dup (p.Ala1638SerfsTer7) c.4701_4704dup (p.Ala1569SerfsTer7) c.1404_1407dup (p.Ala470SerfsTer7) c.1449_1452dup (p.Ala485SerfsTer7) c.4905_4908dup (p.Ala1637SerfsTer7) c.1229_1232dup c.1416_1419dup (p.Ala474SerfsTer7) c.*4625_*4628dup (n.*4625_*4628dup) c.1155_1158dup (p.Ala387SerfsTer7) c.5-7121_5-7118dup (n.5-7121_5-7118dup) c.315_318dup (p.Ala107SerfsTer7) c.-98-20882_-98-20879dup (n.-98-20882_-98-20879dup) n.4978_4981dup n.5019_5022dup | ClinVar |
17 | g.43071070G>A | CA10591835 | BRCA1 | c.4841C>T (p.Ala1614Val) c.4844C>T (p.Ala1615Val) c.4718C>T (p.Ala1573Val) c.4838C>T (p.Ala1613Val) c.4766C>T (p.Ala1589Val) c.1532C>T (p.Ala511Val) c.1394C>T (p.Ala465Val) c.3956C>T (p.Ala1319Val) c.4721C>T (p.Ala1574Val) c.4910C>T (p.Ala1637Val) c.4703C>T (p.Ala1568Val) c.1406C>T (p.Ala469Val) c.1451C>T (p.Ala484Val) c.4907C>T (p.Ala1636Val) c.1231C>T c.1418C>T (p.Ala473Val) c.*4627C>T (n.*4627C>T) c.1157C>T (p.Ala386Val) c.5-7119C>T (n.5-7119C>T) c.317C>T (p.Ala106Val) c.-98-20880C>T (n.-98-20880C>T) n.4980C>T n.5021C>T | ClinVar dbSNP |
17 | g.43071070G>C | CA10591836 | BRCA1 | c.4841C>G (p.Ala1614Gly) c.4844C>G (p.Ala1615Gly) c.4718C>G (p.Ala1573Gly) c.4838C>G (p.Ala1613Gly) c.4766C>G (p.Ala1589Gly) c.1532C>G (p.Ala511Gly) c.1394C>G (p.Ala465Gly) c.3956C>G (p.Ala1319Gly) c.4721C>G (p.Ala1574Gly) c.4910C>G (p.Ala1637Gly) c.4703C>G (p.Ala1568Gly) c.1406C>G (p.Ala469Gly) c.1451C>G (p.Ala484Gly) c.4907C>G (p.Ala1636Gly) c.1231C>G c.1418C>G (p.Ala473Gly) c.*4627C>G (n.*4627C>G) c.1157C>G (p.Ala386Gly) c.5-7119C>G (n.5-7119C>G) c.317C>G (p.Ala106Gly) c.-98-20880C>G (n.-98-20880C>G) n.4980C>G n.5021C>G | ClinVar dbSNP |
17 | g.43071070G= | CA2260772885 | BRCA1 | c.4841C= (p.Ala1614=) c.4844C= (p.Ala1615=) c.4718C= (p.Ala1573=) c.4838C= (p.Ala1613=) c.4766C= (p.Ala1589=) c.1532C= (p.Ala511=) c.1394C= (p.Ala465=) c.3956C= (p.Ala1319=) c.4721C= (p.Ala1574=) c.4910C= (p.Ala1637=) c.4703C= (p.Ala1568=) c.1406C= (p.Ala469=) c.1451C= (p.Ala484=) c.4907C= (p.Ala1636=) c.1231C= c.1418C= (p.Ala473=) c.*4627C= (n.*4627C=) c.1157C= (p.Ala386=) c.5-7119C= (n.5-7119C=) c.317C= (p.Ala106=) c.-98-20880C= (n.-98-20880C=) n.4980C= n.5021C= | |
17 | g.43071070G>T | CA10591837 | BRCA1 | c.4841C>A (p.Ala1614Asp) c.4844C>A (p.Ala1615Asp) c.4718C>A (p.Ala1573Asp) c.4838C>A (p.Ala1613Asp) c.4766C>A (p.Ala1589Asp) c.1532C>A (p.Ala511Asp) c.1394C>A (p.Ala465Asp) c.3956C>A (p.Ala1319Asp) c.4721C>A (p.Ala1574Asp) c.4910C>A (p.Ala1637Asp) c.4703C>A (p.Ala1568Asp) c.1406C>A (p.Ala469Asp) c.1451C>A (p.Ala484Asp) c.4907C>A (p.Ala1636Asp) c.1231C>A c.1418C>A (p.Ala473Asp) c.*4627C>A (n.*4627C>A) c.1157C>A (p.Ala386Asp) c.5-7119C>A (n.5-7119C>A) c.317C>A (p.Ala106Asp) c.-98-20880C>A (n.-98-20880C>A) n.4980C>A n.5021C>A | dbSNP |
17 | g.43071071C>A | CA10591838 | BRCA1 | c.4840G>T (p.Ala1614Ser) c.4843G>T (p.Ala1615Ser) c.4717G>T (p.Ala1573Ser) c.4837G>T (p.Ala1613Ser) c.4765G>T (p.Ala1589Ser) c.1531G>T (p.Ala511Ser) c.1393G>T (p.Ala465Ser) c.3955G>T (p.Ala1319Ser) c.4720G>T (p.Ala1574Ser) c.4909G>T (p.Ala1637Ser) c.4702G>T (p.Ala1568Ser) c.1405G>T (p.Ala469Ser) c.1450G>T (p.Ala484Ser) c.4906G>T (p.Ala1636Ser) c.1230G>T c.1417G>T (p.Ala473Ser) c.*4626G>T (n.*4626G>T) c.1156G>T (p.Ala386Ser) c.5-7120G>T (n.5-7120G>T) c.316G>T (p.Ala106Ser) c.-98-20881G>T (n.-98-20881G>T) n.4979G>T n.5020G>T | dbSNP |
17 | g.43071071C= | CA2260772886 | BRCA1 | c.4840G= (p.Ala1614=) c.4843G= (p.Ala1615=) c.4717G= (p.Ala1573=) c.4837G= (p.Ala1613=) c.4765G= (p.Ala1589=) c.1531G= (p.Ala511=) c.1393G= (p.Ala465=) c.3955G= (p.Ala1319=) c.4720G= (p.Ala1574=) c.4909G= (p.Ala1637=) c.4702G= (p.Ala1568=) c.1405G= (p.Ala469=) c.1450G= (p.Ala484=) c.4906G= (p.Ala1636=) c.1230G= c.1417G= (p.Ala473=) c.*4626G= (n.*4626G=) c.1156G= (p.Ala386=) c.5-7120G= (n.5-7120G=) c.316G= (p.Ala106=) c.-98-20881G= (n.-98-20881G=) n.4979G= n.5020G= | |
17 | g.43071071C>G | CA10591839 | BRCA1 | c.4840G>C (p.Ala1614Pro) c.4843G>C (p.Ala1615Pro) c.4717G>C (p.Ala1573Pro) c.4837G>C (p.Ala1613Pro) c.4765G>C (p.Ala1589Pro) c.1531G>C (p.Ala511Pro) c.1393G>C (p.Ala465Pro) c.3955G>C (p.Ala1319Pro) c.4720G>C (p.Ala1574Pro) c.4909G>C (p.Ala1637Pro) c.4702G>C (p.Ala1568Pro) c.1405G>C (p.Ala469Pro) c.1450G>C (p.Ala484Pro) c.4906G>C (p.Ala1636Pro) c.1230G>C c.1417G>C (p.Ala473Pro) c.*4626G>C (n.*4626G>C) c.1156G>C (p.Ala386Pro) c.5-7120G>C (n.5-7120G>C) c.316G>C (p.Ala106Pro) c.-98-20881G>C (n.-98-20881G>C) n.4979G>C n.5020G>C | ClinVar dbSNP |
17 | g.43071071C>T | CA003050 | BRCA1 | c.4840G>A (p.Ala1614Thr) c.4843G>A (p.Ala1615Thr) c.4717G>A (p.Ala1573Thr) c.4837G>A (p.Ala1613Thr) c.4765G>A (p.Ala1589Thr) c.1531G>A (p.Ala511Thr) c.1393G>A (p.Ala465Thr) c.3955G>A (p.Ala1319Thr) c.4720G>A (p.Ala1574Thr) c.4909G>A (p.Ala1637Thr) c.4702G>A (p.Ala1568Thr) c.1405G>A (p.Ala469Thr) c.1450G>A (p.Ala484Thr) c.4906G>A (p.Ala1636Thr) c.1230G>A c.1417G>A (p.Ala473Thr) c.*4626G>A (n.*4626G>A) c.1156G>A (p.Ala386Thr) c.5-7120G>A (n.5-7120G>A) c.316G>A (p.Ala106Thr) c.-98-20881G>A (n.-98-20881G>A) n.4979G>A n.5020G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071071dup | CA003049 | BRCA1 | c.4840dup (p.Ala1614GlyfsTer7) c.4843dup (p.Ala1615GlyfsTer7) c.4717dup (p.Ala1573GlyfsTer7) c.4837dup (p.Ala1613GlyfsTer7) c.4765dup (p.Ala1589GlyfsTer7) c.1531dup (p.Ala511GlyfsTer7) c.1393dup (p.Ala465GlyfsTer7) c.3955dup (p.Ala1319GlyfsTer7) c.4720dup (p.Ala1574GlyfsTer7) c.4909dup (p.Ala1637GlyfsTer7) c.4702dup (p.Ala1568GlyfsTer7) c.1405dup (p.Ala469GlyfsTer7) c.1450dup (p.Ala484GlyfsTer7) c.4906dup (p.Ala1636GlyfsTer7) c.1230dup c.1417dup (p.Ala473GlyfsTer7) c.*4626dup (n.*4626dup) c.1156dup (p.Ala386GlyfsTer7) c.5-7120dup (n.5-7120dup) c.316dup (p.Ala106GlyfsTer7) c.-98-20881dup (n.-98-20881dup) n.4979dup n.5020dup | ClinVar dbSNP |
17 | g.43071072T>A | CA500231804 | BRCA1 | c.4839A>T (p.Pro1613=) c.4842A>T (p.Pro1614=) c.4716A>T (p.Pro1572=) c.4836A>T (p.Pro1612=) c.4764A>T (p.Pro1588=) c.1530A>T (p.Pro510=) c.1392A>T (p.Pro464=) c.3954A>T (p.Pro1318=) c.4719A>T (p.Pro1573=) c.4908A>T (p.Pro1636=) c.4701A>T (p.Pro1567=) c.1404A>T (p.Pro468=) c.1449A>T (p.Pro483=) c.4905A>T (p.Pro1635=) c.1229A>T c.1416A>T (p.Pro472=) c.*4625A>T (n.*4625A>T) c.1155A>T (p.Pro385=) c.5-7121A>T (n.5-7121A>T) c.315A>T (p.Pro105=) c.-98-20882A>T (n.-98-20882A>T) n.4978A>T n.5019A>T | |
17 | g.43071072T>C | CA500231805 | BRCA1 | c.4839A>G (p.Pro1613=) c.4842A>G (p.Pro1614=) c.4716A>G (p.Pro1572=) c.4836A>G (p.Pro1612=) c.4764A>G (p.Pro1588=) c.1530A>G (p.Pro510=) c.1392A>G (p.Pro464=) c.3954A>G (p.Pro1318=) c.4719A>G (p.Pro1573=) c.4908A>G (p.Pro1636=) c.4701A>G (p.Pro1567=) c.1404A>G (p.Pro468=) c.1449A>G (p.Pro483=) c.4905A>G (p.Pro1635=) c.1229A>G c.1416A>G (p.Pro472=) c.*4625A>G (n.*4625A>G) c.1155A>G (p.Pro385=) c.5-7121A>G (n.5-7121A>G) c.315A>G (p.Pro105=) c.-98-20882A>G (n.-98-20882A>G) n.4978A>G n.5019A>G | ClinVar |
17 | g.43071072T>G | CA500231806 | BRCA1 | c.4839A>C (p.Pro1613=) c.4842A>C (p.Pro1614=) c.4716A>C (p.Pro1572=) c.4836A>C (p.Pro1612=) c.4764A>C (p.Pro1588=) c.1530A>C (p.Pro510=) c.1392A>C (p.Pro464=) c.3954A>C (p.Pro1318=) c.4719A>C (p.Pro1573=) c.4908A>C (p.Pro1636=) c.4701A>C (p.Pro1567=) c.1404A>C (p.Pro468=) c.1449A>C (p.Pro483=) c.4905A>C (p.Pro1635=) c.1229A>C c.1416A>C (p.Pro472=) c.*4625A>C (n.*4625A>C) c.1155A>C (p.Pro385=) c.5-7121A>C (n.5-7121A>C) c.315A>C (p.Pro105=) c.-98-20882A>C (n.-98-20882A>C) n.4978A>C n.5019A>C | |
17 | g.43071072T= | CA2260772887 | BRCA1 | c.4839A= (p.Pro1613=) c.4842A= (p.Pro1614=) c.4716A= (p.Pro1572=) c.4836A= (p.Pro1612=) c.4764A= (p.Pro1588=) c.1530A= (p.Pro510=) c.1392A= (p.Pro464=) c.3954A= (p.Pro1318=) c.4719A= (p.Pro1573=) c.4908A= (p.Pro1636=) c.4701A= (p.Pro1567=) c.1404A= (p.Pro468=) c.1449A= (p.Pro483=) c.4905A= (p.Pro1635=) c.1229A= c.1416A= (p.Pro472=) c.*4625A= (n.*4625A=) c.1155A= (p.Pro385=) c.5-7121A= (n.5-7121A=) c.315A= (p.Pro105=) c.-98-20882A= (n.-98-20882A=) n.4978A= n.5019A= | |
17 | g.43071073G>A | CA053344 | BRCA1 | c.4838C>T (p.Pro1613Leu) c.4841C>T (p.Pro1614Leu) c.4715C>T (p.Pro1572Leu) c.4835C>T (p.Pro1612Leu) c.4763C>T (p.Pro1588Leu) c.1529C>T (p.Pro510Leu) c.1391C>T (p.Pro464Leu) c.3953C>T (p.Pro1318Leu) c.4718C>T (p.Pro1573Leu) c.4907C>T (p.Pro1636Leu) c.4700C>T (p.Pro1567Leu) c.1403C>T (p.Pro468Leu) c.1448C>T (p.Pro483Leu) c.4904C>T (p.Pro1635Leu) c.1228C>T c.1415C>T (p.Pro472Leu) c.*4624C>T (n.*4624C>T) c.1154C>T (p.Pro385Leu) c.5-7122C>T (n.5-7122C>T) c.314C>T (p.Pro105Leu) c.-98-20883C>T (n.-98-20883C>T) n.4977C>T n.5018C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43071073G>C | CA10591840 | BRCA1 | c.4838C>G (p.Pro1613Arg) c.4841C>G (p.Pro1614Arg) c.4715C>G (p.Pro1572Arg) c.4835C>G (p.Pro1612Arg) c.4763C>G (p.Pro1588Arg) c.1529C>G (p.Pro510Arg) c.1391C>G (p.Pro464Arg) c.3953C>G (p.Pro1318Arg) c.4718C>G (p.Pro1573Arg) c.4907C>G (p.Pro1636Arg) c.4700C>G (p.Pro1567Arg) c.1403C>G (p.Pro468Arg) c.1448C>G (p.Pro483Arg) c.4904C>G (p.Pro1635Arg) c.1228C>G c.1415C>G (p.Pro472Arg) c.*4624C>G (n.*4624C>G) c.1154C>G (p.Pro385Arg) c.5-7122C>G (n.5-7122C>G) c.314C>G (p.Pro105Arg) c.-98-20883C>G (n.-98-20883C>G) n.4977C>G n.5018C>G | ClinVar dbSNP |
17 | g.43071073G= | CA2260772888 | BRCA1 | c.4838C= (p.Pro1613=) c.4841C= (p.Pro1614=) c.4715C= (p.Pro1572=) c.4835C= (p.Pro1612=) c.4763C= (p.Pro1588=) c.1529C= (p.Pro510=) c.1391C= (p.Pro464=) c.3953C= (p.Pro1318=) c.4718C= (p.Pro1573=) c.4907C= (p.Pro1636=) c.4700C= (p.Pro1567=) c.1403C= (p.Pro468=) c.1448C= (p.Pro483=) c.4904C= (p.Pro1635=) c.1228C= c.1415C= (p.Pro472=) c.*4624C= (n.*4624C=) c.1154C= (p.Pro385=) c.5-7122C= (n.5-7122C=) c.314C= (p.Pro105=) c.-98-20883C= (n.-98-20883C=) n.4977C= n.5018C= | |
17 | g.43071073G>T | CA10591841 | BRCA1 | c.4838C>A (p.Pro1613Gln) c.4841C>A (p.Pro1614Gln) c.4715C>A (p.Pro1572Gln) c.4835C>A (p.Pro1612Gln) c.4763C>A (p.Pro1588Gln) c.1529C>A (p.Pro510Gln) c.1391C>A (p.Pro464Gln) c.3953C>A (p.Pro1318Gln) c.4718C>A (p.Pro1573Gln) c.4907C>A (p.Pro1636Gln) c.4700C>A (p.Pro1567Gln) c.1403C>A (p.Pro468Gln) c.1448C>A (p.Pro483Gln) c.4904C>A (p.Pro1635Gln) c.1228C>A c.1415C>A (p.Pro472Gln) c.*4624C>A (n.*4624C>A) c.1154C>A (p.Pro385Gln) c.5-7122C>A (n.5-7122C>A) c.314C>A (p.Pro105Gln) c.-98-20883C>A (n.-98-20883C>A) n.4977C>A n.5018C>A | |
17 | g.43071074dup | CA658825005 | BRCA1 | c.4838dup (p.Ala1614SerfsTer7) c.4841dup (p.Ala1615SerfsTer7) c.4715dup (p.Ala1573SerfsTer7) c.4835dup (p.Ala1613SerfsTer7) c.4763dup (p.Ala1589SerfsTer7) c.1529dup (p.Ala511SerfsTer7) c.1391dup (p.Ala465SerfsTer7) c.3953dup (p.Ala1319SerfsTer7) c.4718dup (p.Ala1574SerfsTer7) c.4907dup (p.Ala1637SerfsTer7) c.4700dup (p.Ala1568SerfsTer7) c.1403dup (p.Ala469SerfsTer7) c.1448dup (p.Ala484SerfsTer7) c.4904dup (p.Ala1636SerfsTer7) c.1228dup c.1415dup (p.Ala473SerfsTer7) c.*4624dup (n.*4624dup) c.1154dup (p.Ala386SerfsTer7) c.5-7122dup (n.5-7122dup) c.314dup (p.Ala106SerfsTer7) c.-98-20883dup (n.-98-20883dup) n.4977dup n.5018dup | ClinVar dbSNP |
17 | g.43071074del | CA645578302 | BRCA1 | c.4838del (p.Pro1613GlnfsTer19) c.4841del (p.Pro1614GlnfsTer19) c.4715del (p.Pro1572GlnfsTer19) c.4835del (p.Pro1612GlnfsTer19) c.4763del (p.Pro1588GlnfsTer19) c.1529del (p.Pro510GlnfsTer19) c.1391del (p.Pro464GlnfsTer19) c.3953del (p.Pro1318GlnfsTer19) c.4718del (p.Pro1573GlnfsTer19) c.4907del (p.Pro1636GlnfsTer19) c.4700del (p.Pro1567GlnfsTer19) c.1403del (p.Pro468GlnfsTer19) c.1448del (p.Pro483GlnfsTer19) c.4904del (p.Pro1635GlnfsTer19) c.1228del c.1415del (p.Pro472GlnfsTer19) c.*4624del (n.*4624del) c.1154del (p.Pro385GlnfsTer19) c.5-7122del (n.5-7122del) c.314del (p.Pro105GlnfsTer19) c.-98-20883del (n.-98-20883del) n.4977del n.5018del | COSMIC COSMIC |
17 | g.43071074G>A | CA003048 | BRCA1 | c.4837C>T (p.Pro1613Ser) c.4840C>T (p.Pro1614Ser) c.4714C>T (p.Pro1572Ser) c.4834C>T (p.Pro1612Ser) c.4762C>T (p.Pro1588Ser) c.1528C>T (p.Pro510Ser) c.1390C>T (p.Pro464Ser) c.3952C>T (p.Pro1318Ser) c.4717C>T (p.Pro1573Ser) c.4906C>T (p.Pro1636Ser) c.4699C>T (p.Pro1567Ser) c.1402C>T (p.Pro468Ser) c.1447C>T (p.Pro483Ser) c.4903C>T (p.Pro1635Ser) c.1227C>T c.1414C>T (p.Pro472Ser) c.*4623C>T (n.*4623C>T) c.1153C>T (p.Pro385Ser) c.5-7123C>T (n.5-7123C>T) c.313C>T (p.Pro105Ser) c.-98-20884C>T (n.-98-20884C>T) n.4976C>T n.5017C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071074G>C | CA10591842 | BRCA1 | c.4837C>G (p.Pro1613Ala) c.4840C>G (p.Pro1614Ala) c.4714C>G (p.Pro1572Ala) c.4834C>G (p.Pro1612Ala) c.4762C>G (p.Pro1588Ala) c.1528C>G (p.Pro510Ala) c.1390C>G (p.Pro464Ala) c.3952C>G (p.Pro1318Ala) c.4717C>G (p.Pro1573Ala) c.4906C>G (p.Pro1636Ala) c.4699C>G (p.Pro1567Ala) c.1402C>G (p.Pro468Ala) c.1447C>G (p.Pro483Ala) c.4903C>G (p.Pro1635Ala) c.1227C>G c.1414C>G (p.Pro472Ala) c.*4623C>G (n.*4623C>G) c.1153C>G (p.Pro385Ala) c.5-7123C>G (n.5-7123C>G) c.313C>G (p.Pro105Ala) c.-98-20884C>G (n.-98-20884C>G) n.4976C>G n.5017C>G | ClinVar dbSNP |
17 | g.43071074G= | CA2260772889 | BRCA1 | c.4837C= (p.Pro1613=) c.4840C= (p.Pro1614=) c.4714C= (p.Pro1572=) c.4834C= (p.Pro1612=) c.4762C= (p.Pro1588=) c.1528C= (p.Pro510=) c.1390C= (p.Pro464=) c.3952C= (p.Pro1318=) c.4717C= (p.Pro1573=) c.4906C= (p.Pro1636=) c.4699C= (p.Pro1567=) c.1402C= (p.Pro468=) c.1447C= (p.Pro483=) c.4903C= (p.Pro1635=) c.1227C= c.1414C= (p.Pro472=) c.*4623C= (n.*4623C=) c.1153C= (p.Pro385=) c.5-7123C= (n.5-7123C=) c.313C= (p.Pro105=) c.-98-20884C= (n.-98-20884C=) n.4976C= n.5017C= | |
17 | g.43071074G>T | CA10591843 | BRCA1 | c.4837C>A (p.Pro1613Thr) c.4840C>A (p.Pro1614Thr) c.4714C>A (p.Pro1572Thr) c.4834C>A (p.Pro1612Thr) c.4762C>A (p.Pro1588Thr) c.1528C>A (p.Pro510Thr) c.1390C>A (p.Pro464Thr) c.3952C>A (p.Pro1318Thr) c.4717C>A (p.Pro1573Thr) c.4906C>A (p.Pro1636Thr) c.4699C>A (p.Pro1567Thr) c.1402C>A (p.Pro468Thr) c.1447C>A (p.Pro483Thr) c.4903C>A (p.Pro1635Thr) c.1227C>A c.1414C>A (p.Pro472Thr) c.*4623C>A (n.*4623C>A) c.1153C>A (p.Pro385Thr) c.5-7123C>A (n.5-7123C>A) c.313C>A (p.Pro105Thr) c.-98-20884C>A (n.-98-20884C>A) n.4976C>A n.5017C>A | |
17 | g.43071075A= | CA2260772890 | BRCA1 | c.4836T= (p.Ser1612=) c.4839T= (p.Ser1613=) c.4713T= (p.Ser1571=) c.4833T= (p.Ser1611=) c.4761T= (p.Ser1587=) c.1527T= (p.Ser509=) c.1389T= (p.Ser463=) c.3951T= (p.Ser1317=) c.4716T= (p.Ser1572=) c.4905T= (p.Ser1635=) c.4698T= (p.Ser1566=) c.1401T= (p.Ser467=) c.1446T= (p.Ser482=) c.4902T= (p.Ser1634=) c.1226T= c.1413T= (p.Ser471=) c.*4622T= (n.*4622T=) c.1152T= (p.Ser384=) c.5-7124T= (n.5-7124T=) c.312T= (p.Ser104=) c.-98-20885T= (n.-98-20885T=) n.4975T= n.5016T= | |
17 | g.43071075A>C | CA10591844 | BRCA1 | c.4836T>G (p.Ser1612Arg) c.4839T>G (p.Ser1613Arg) c.4713T>G (p.Ser1571Arg) c.4833T>G (p.Ser1611Arg) c.4761T>G (p.Ser1587Arg) c.1527T>G (p.Ser509Arg) c.1389T>G (p.Ser463Arg) c.3951T>G (p.Ser1317Arg) c.4716T>G (p.Ser1572Arg) c.4905T>G (p.Ser1635Arg) c.4698T>G (p.Ser1566Arg) c.1401T>G (p.Ser467Arg) c.1446T>G (p.Ser482Arg) c.4902T>G (p.Ser1634Arg) c.1226T>G c.1413T>G (p.Ser471Arg) c.*4622T>G (n.*4622T>G) c.1152T>G (p.Ser384Arg) c.5-7124T>G (n.5-7124T>G) c.312T>G (p.Ser104Arg) c.-98-20885T>G (n.-98-20885T>G) n.4975T>G n.5016T>G | dbSNP |
17 | g.43071075A>G | CA500231807 | BRCA1 | c.4836T>C (p.Ser1612=) c.4839T>C (p.Ser1613=) c.4713T>C (p.Ser1571=) c.4833T>C (p.Ser1611=) c.4761T>C (p.Ser1587=) c.1527T>C (p.Ser509=) c.1389T>C (p.Ser463=) c.3951T>C (p.Ser1317=) c.4716T>C (p.Ser1572=) c.4905T>C (p.Ser1635=) c.4698T>C (p.Ser1566=) c.1401T>C (p.Ser467=) c.1446T>C (p.Ser482=) c.4902T>C (p.Ser1634=) c.1226T>C c.1413T>C (p.Ser471=) c.*4622T>C (n.*4622T>C) c.1152T>C (p.Ser384=) c.5-7124T>C (n.5-7124T>C) c.312T>C (p.Ser104=) c.-98-20885T>C (n.-98-20885T>C) n.4975T>C n.5016T>C | |
17 | g.43071075A>T | CA10591845 | BRCA1 | c.4836T>A (p.Ser1612Arg) c.4839T>A (p.Ser1613Arg) c.4713T>A (p.Ser1571Arg) c.4833T>A (p.Ser1611Arg) c.4761T>A (p.Ser1587Arg) c.1527T>A (p.Ser509Arg) c.1389T>A (p.Ser463Arg) c.3951T>A (p.Ser1317Arg) c.4716T>A (p.Ser1572Arg) c.4905T>A (p.Ser1635Arg) c.4698T>A (p.Ser1566Arg) c.1401T>A (p.Ser467Arg) c.1446T>A (p.Ser482Arg) c.4902T>A (p.Ser1634Arg) c.1226T>A c.1413T>A (p.Ser471Arg) c.*4622T>A (n.*4622T>A) c.1152T>A (p.Ser384Arg) c.5-7124T>A (n.5-7124T>A) c.312T>A (p.Ser104Arg) c.-98-20885T>A (n.-98-20885T>A) n.4975T>A n.5016T>A | dbSNP gnomAD v4 |
17 | g.43071075_43071077delinsACT | CA2260772891 | BRCA1 | c.4834_4836delinsAGT (p.Ser1612=) c.4837_4839delinsAGT (p.Ser1613=) c.4711_4713delinsAGT (p.Ser1571=) c.4831_4833delinsAGT (p.Ser1611=) c.4759_4761delinsAGT (p.Ser1587=) c.1525_1527delinsAGT (p.Ser509=) c.1387_1389delinsAGT (p.Ser463=) c.3949_3951delinsAGT (p.Ser1317=) c.4714_4716delinsAGT (p.Ser1572=) c.4903_4905delinsAGT (p.Ser1635=) c.4696_4698delinsAGT (p.Ser1566=) c.1399_1401delinsAGT (p.Ser467=) c.1444_1446delinsAGT (p.Ser482=) c.4900_4902delinsAGT (p.Ser1634=) c.1224_1226delinsAGT c.1411_1413delinsAGT (p.Ser471=) c.*4620_*4622delinsAGT (n.*4620_*4622delinsAGT) c.1150_1152delinsAGT (p.Ser384=) c.5-7126_5-7124delinsAGT (n.5-7126_5-7124delinsAGT) c.310_312delinsAGT (p.Ser104=) c.-98-20887_-98-20885delinsAGT (n.-98-20887_-98-20885delinsAGT) n.4973_4975delinsAGT n.5014_5016delinsAGT |