Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43063955_43071241delCA10575957BRCA1c.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
 ClinVar
17g.43066661_43072815delCA913190336BRCA1c.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
17g.43067611_43071241delCA2581463406BRCA1c.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
17g.43070037_43072667delCA10602585BRCA1c.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
17g.43070145_43072775delCA2697559917BRCA1c.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
17g.43070208_43078359dupCA16043350BRCA1c.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
17g.43070192_43078360dupCA2580612611BRCA1c.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
17g.43070972_43071054delinsTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCACA2260772786BRCA1c.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
17g.43070975_43071056delCA10589635BRCA1c.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
17g.43071017T>ACA10591731BRCA1c.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
17g.43071017T>CCA10591732BRCA1c.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
17g.43071017T>GCA10591733BRCA1c.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
17g.43071017T=CA2260772840BRCA1c.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=
17g.43071017_43071019delinsTCACA2260772839BRCA1c.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
17g.43071018delCA2695225905BRCA1c.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
17g.43071018C>ACA500231715BRCA1c.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
17g.43071018C=CA2260772841BRCA1c.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=
17g.43071018C>GCA500231718BRCA1c.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
17g.43071018C>TCA500231720BRCA1c.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
17g.43071021_43071022delCA10586606BRCA1c.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
17g.43071019A=CA2260772842BRCA1c.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=
17g.43071019A>CCA10591734BRCA1c.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
17g.43071019A>GCA10591735BRCA1c.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
17g.43071019A>TCA10591736BRCA1c.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
17g.43071020C>ACA003070BRCA1c.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
17g.43071020C=CA2260772843BRCA1c.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=
17g.43071020C>GCA10591737BRCA1c.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
17g.43071020C>TCA053429BRCA1c.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
17g.43071020_43071027delinsCACTTTCTCA2260772844BRCA1c.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
17g.43071021A=CA2260772845BRCA1c.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=
17g.43071021A>CCA10591738BRCA1c.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
17g.43071021A>GCA003068BRCA1c.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
17g.43071021A>TCA10591739BRCA1c.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
17g.43071021_43071027delCA10589637BRCA1c.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
17g.43071022C>ACA10591740BRCA1c.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
17g.43071022C=CA2260772846BRCA1c.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=
17g.43071022C>GCA10591741BRCA1c.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
17g.43071022C>TCA003067BRCA1c.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
17g.43071022_43071023delinsCTCA2260772847BRCA1c.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
17g.43071023T>ACA003066BRCA1c.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
17g.43071023T>CCA10591742BRCA1c.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
17g.43071023T>GCA10591743BRCA1c.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
17g.43071023T=CA2260772848BRCA1c.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=
17g.43071025dupCA003065BRCA1c.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
17g.43071025delCA10589638BRCA1c.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
17g.43071024T>ACA10591744BRCA1c.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
17g.43071024T>CCA500231736BRCA1c.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
17g.43071024T>GCA10591745BRCA1c.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
17g.43071024_43071026delinsTTCCA2260772849BRCA1c.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
17g.43071026_43071033delCA2582342171BRCA1c.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
17g.43071025T>ACA10591746BRCA1c.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
17g.43071025T>CCA10591747BRCA1c.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
17g.43071025T>GCA10591748BRCA1c.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
17g.43071026_43071027delCA10586110BRCA1c.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
17g.43071026C>ACA10591749BRCA1c.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
17g.43071026C=CA2260772851BRCA1c.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=
17g.43071026C>GCA10591750BRCA1c.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
17g.43071026C>TCA10591751BRCA1c.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
17g.43071026_43071027delinsCTCA2260772850BRCA1c.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
17g.43071026_43071027insGCA919844193BRCA1c.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
17g.43071027T>ACA10591752BRCA1c.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
17g.43071027T>CCA500231742BRCA1c.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
17g.43071027T>GCA10591753BRCA1c.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
17g.43071027_43071028delinsGCA2499224390BRCA1c.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
17g.43071028delCA919844194BRCA1c.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
17g.43071028T>ACA10591754BRCA1c.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
17g.43071028T>CCA10591755BRCA1c.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
17g.43071028T>GCA10591756BRCA1c.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
17g.43071028_43071029delinsTCCA2260772852BRCA1c.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
17g.43071028_43071041delinsTCCATTGCATTATACA2260772853BRCA1c.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
17g.43071029C>ACA10591757BRCA1c.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
17g.43071029C>GCA10591758BRCA1c.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
17g.43071029C>TCA10591759BRCA1c.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
17g.43071030dupCA10589639BRCA1c.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
17g.43071030delCA658825003BRCA1c.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
17g.43071031_43071043delCA003059BRCA1c.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
17g.43071030C>ACA003063BRCA1c.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
17g.43071030C=CA2260772854BRCA1c.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=
17g.43071030C>GCA10591760BRCA1c.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
17g.43071030C>TCA10591761BRCA1c.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
17g.43071031delCA2697559920BRCA1c.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
17g.43071031A=CA2260772855BRCA1c.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=
17g.43071031A>CCA10591762BRCA1c.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
17g.43071031A>GCA003062BRCA1c.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
17g.43071031A>TCA10591763BRCA1c.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
17g.43071032T>ACA10591764BRCA1c.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
17g.43071032T>CCA003061BRCA1c.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
17g.43071032T>GCA10591765BRCA1c.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
17g.43071032T=CA2260772856BRCA1c.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=
17g.43071033T>ACA500231753BRCA1c.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
17g.43071033T>CCA500231751BRCA1c.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
17g.43071033T>GCA500231752BRCA1c.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
17g.43071033T=CA2260772857BRCA1c.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=
17g.43071034G>ACA053410BRCA1c.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
17g.43071034G>CCA10591766BRCA1c.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
 dbSNP
17g.43071034G=CA2260772858BRCA1c.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=
17g.43071034G>TCA10591767BRCA1c.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
17g.43071034_43071041delCA2499224391BRCA1c.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
17g.43071035C>ACA10591768BRCA1c.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
17g.43071035C=CA2260772859BRCA1c.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=
17g.43071035C>GCA10591769BRCA1c.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
17g.43071035C>TCA053401BRCA1c.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
17g.43071036delCA2573154030BRCA1c.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
17g.43071036A=CA2260772861BRCA1c.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=
17g.43071036A>CCA10591770BRCA1c.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
17g.43071036A>GCA500231756BRCA1c.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
17g.43071036A>TCA10591771BRCA1c.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
17g.43071036dupCA10589640BRCA1c.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
17g.43071036_43071037delinsATCA2260772860BRCA1c.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
17g.43071037T>ACA10591772BRCA1c.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
17g.43071037T>CCA10591773BRCA1c.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
17g.43071037T>GCA10591774BRCA1c.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
17g.43071038delCA10589641BRCA1c.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
17g.43071038T>ACA10591775BRCA1c.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
17g.43071038T>CCA10591776BRCA1c.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
17g.43071038T>GCA10591777BRCA1c.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
17g.43071038_43071041dupCA2695225906BRCA1c.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
17g.43071039A=CA2260772862BRCA1c.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=
17g.43071039A>CCA10591778BRCA1c.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
17g.43071039A>GCA500231761BRCA1c.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
17g.43071039A>TCA10589642BRCA1c.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
17g.43071040T>ACA10591779BRCA1c.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
17g.43071040T>CCA003060BRCA1c.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
17g.43071040T>GCA10591780BRCA1c.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
17g.43071040T=CA2260772863BRCA1c.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=
17g.43071041A=CA2260772864BRCA1c.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=
17g.43071041A>CCA10591781BRCA1c.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
17g.43071041A>GCA10591782BRCA1c.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
17g.43071041A>TCA10591783BRCA1c.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
17g.43071042C>ACA290829463BRCA1c.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
17g.43071042C=CA2260772865BRCA1c.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=
17g.43071042C>GCA500231765BRCA1c.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
17g.43071042C>TCA500231766BRCA1c.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
17g.43071044delCA2573054439BRCA1c.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
17g.43071042_43071052delinsCCCAGCAGTATCA2260772866BRCA1c.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
17g.43071043C>ACA10591784BRCA1c.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
17g.43071043C=CA2260772867BRCA1c.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=
17g.43071043C>GCA10591785BRCA1c.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
17g.43071043C>TCA10591786BRCA1c.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
17g.43071044_43071053delCA658656618BRCA1c.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
17g.43071043_43071044insTCA1139665578BRCA1c.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
17g.43071044C>ACA10591787BRCA1c.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
17g.43071044C>GCA10591788BRCA1c.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
17g.43071044C>TCA10591789BRCA1c.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
17g.43071045A>CCA500231769BRCA1c.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
17g.43071045A>GCA500231771BRCA1c.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
17g.43071045A>TCA500231773BRCA1c.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
17g.43071046G>ACA10591790BRCA1c.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
17g.43071046G>CCA003058BRCA1c.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
17g.43071046G=CA2260772868BRCA1c.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=
17g.43071046G>TCA10591791BRCA1c.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
17g.43071047C>ACA10591792BRCA1c.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
17g.43071047C>GCA10591793BRCA1c.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
17g.43071047C>TCA10591794BRCA1c.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
17g.43071048A>CCA500231778BRCA1c.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
17g.43071048A>GCA500231779BRCA1c.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
17g.43071048A>TCA500231780BRCA1c.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
17g.43071049G>ACA10591795BRCA1c.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
17g.43071049G>CCA003057BRCA1c.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
17g.43071049G=CA2260772869BRCA1c.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=
17g.43071049G>TCA10591796BRCA1c.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
17g.43071050T>ACA10591797BRCA1c.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
17g.43071050T>CCA003056BRCA1c.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
17g.43071050T>GCA10591798BRCA1c.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
17g.43071050T=CA2260772870BRCA1c.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=
17g.43071051A>CCA10591799BRCA1c.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
17g.43071051A>GCA500231784BRCA1c.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
17g.43071051A>TCA10591800BRCA1c.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
17g.43071051_43071052insCCA2499224392BRCA1c.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
17g.43071052delCA2499224393BRCA1c.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
17g.43071052T>ACA10591801BRCA1c.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
17g.43071052T>CCA10591802BRCA1c.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
17g.43071052T>GCA10591803BRCA1c.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
17g.43071052T=CA2260772871BRCA1c.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=
17g.43071053C>ACA10591804BRCA1c.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
17g.43071053C>GCA10591805BRCA1c.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
17g.43071053C>TCA10591806BRCA1c.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
17g.43071054A=CA2260772872BRCA1c.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=
17g.43071054A>CCA500231787BRCA1c.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
17g.43071054A>GCA053379BRCA1c.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
17g.43071054A>TCA500231786BRCA1c.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
17g.43071055G>ACA10591807BRCA1c.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
17g.43071055G>CCA10591808BRCA1c.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
17g.43071055G>TCA10591809BRCA1c.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
17g.43071056T>ACA10591810BRCA1c.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
17g.43071056T>CCA003055BRCA1c.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
17g.43071056T>GCA10591811BRCA1c.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
17g.43071056T=CA2260772873BRCA1c.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=
17g.43071057A>CCA500231789BRCA1c.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
17g.43071057A>GCA500231790BRCA1c.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
17g.43071057A>TCA500231791BRCA1c.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
17g.43071058G>ACA10580507BRCA1c.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
17g.43071058G>CCA10591812BRCA1c.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
17g.43071058G=CA2260772874BRCA1c.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=
17g.43071058G>TCA10591813BRCA1c.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
17g.43071059T>ACA10591814BRCA1c.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
17g.43071059T>CCA10591815BRCA1c.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
17g.43071059T>GCA10591816BRCA1c.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
17g.43071060A=CA2260772875BRCA1c.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=
17g.43071060A>CCA10591817BRCA1c.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
17g.43071060A>GCA053368BRCA1c.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
17g.43071060A>TCA10591818BRCA1c.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
17g.43071061T>ACA10591819BRCA1c.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
17g.43071061T>CCA10591820BRCA1c.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
17g.43071061T>GCA10591821BRCA1c.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
17g.43071061T=CA2260772876BRCA1c.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=
17g.43071062G>ACA053358BRCA1c.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
17g.43071062G>CCA10591822BRCA1c.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
17g.43071062G=CA2260772877BRCA1c.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=
17g.43071062G>TCA10584552BRCA1c.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
17g.43071063A=CA2260772878BRCA1c.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=
17g.43071063A>CCA500231793BRCA1c.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
17g.43071063A>GCA003053BRCA1c.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
17g.43071063A>TCA500231794BRCA1c.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
17g.43071064G>ACA10591823BRCA1c.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
17g.43071064G>CCA10591824BRCA1c.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
17g.43071064G=CA2260772879BRCA1c.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=
17g.43071064G>TCA10591825BRCA1c.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
17g.43071065C>ACA10591826BRCA1c.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
17g.43071065C>GCA10591827BRCA1c.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
17g.43071065C>TCA10591828BRCA1c.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
17g.43071066A=CA2260772880BRCA1c.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=
17g.43071066A>CCA500231800BRCA1c.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
17g.43071066A>GCA500231798BRCA1c.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
17g.43071066A>TCA500231799BRCA1c.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
17g.43071066_43071081delinsAGCAGCTGGACTCTGGCA2260772881BRCA1c.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
17g.43071067G>ACA10591829BRCA1c.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
17g.43071067G>CCA10591830BRCA1c.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
17g.43071067G=CA2260772882BRCA1c.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=
17g.43071067G>TCA10591831BRCA1c.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
17g.43071071_43071085delCA658825004BRCA1c.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
17g.43071068C>ACA10591832BRCA1c.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
17g.43071068C=CA2260772883BRCA1c.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=
17g.43071068C>GCA10591833BRCA1c.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
17g.43071068C>TCA10591834BRCA1c.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
17g.43071069A=CA2260772884BRCA1c.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=
17g.43071069A>CCA500231802BRCA1c.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
17g.43071069A>GCA003051BRCA1c.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
17g.43071069A>TCA500231803BRCA1c.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
17g.43071069_43071072dupCA2580094020BRCA1c.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
17g.43071070G>ACA10591835BRCA1c.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
17g.43071070G>CCA10591836BRCA1c.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
17g.43071070G=CA2260772885BRCA1c.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=
17g.43071070G>TCA10591837BRCA1c.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
17g.43071071C>ACA10591838BRCA1c.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
17g.43071071C=CA2260772886BRCA1c.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=
17g.43071071C>GCA10591839BRCA1c.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
17g.43071071C>TCA003050BRCA1c.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
17g.43071071dupCA003049BRCA1c.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
17g.43071072T>ACA500231804BRCA1c.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
17g.43071072T>CCA500231805BRCA1c.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
17g.43071072T>GCA500231806BRCA1c.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
17g.43071072T=CA2260772887BRCA1c.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=
17g.43071073G>ACA053344BRCA1c.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
17g.43071073G>CCA10591840BRCA1c.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
17g.43071073G=CA2260772888BRCA1c.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=
17g.43071073G>TCA10591841BRCA1c.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
17g.43071074dupCA658825005BRCA1c.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
17g.43071074delCA645578302BRCA1c.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
17g.43071074G>ACA003048BRCA1c.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
17g.43071074G>CCA10591842BRCA1c.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
17g.43071074G=CA2260772889BRCA1c.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=
17g.43071074G>TCA10591843BRCA1c.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
17g.43071075A=CA2260772890BRCA1c.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=
17g.43071075A>CCA10591844BRCA1c.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
17g.43071075A>GCA500231807BRCA1c.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
17g.43071075A>TCA10591845BRCA1c.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
17g.43071075_43071077delinsACTCA2260772891BRCA1c.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
17g.43071075_43071076insGCA003047BRCA1c.4835_4836insC (p.Pro1613SerfsTer8)
c.4838_4839insC (p.Pro1614SerfsTer8)
c.4712_4713insC (p.Pro1572SerfsTer8)
c.4832_4833insC (p.Pro1612SerfsTer8)
c.4760_4761insC (p.Pro1588SerfsTer8)
c.1526_1527insC (p.Pro510SerfsTer8)
c.1388_1389insC (p.Pro464SerfsTer8)
c.3950_3951insC (p.Pro1318SerfsTer8)
c.4715_4716insC (p.Pro1573SerfsTer8)
c.4904_4905insC (p.Pro1636SerfsTer8)
c.4697_4698insC (p.Pro1567SerfsTer8)
c.1400_1401insC (p.Pro468SerfsTer8)
c.1445_1446insC (p.Pro483SerfsTer8)
c.4901_4902insC (p.Pro1635SerfsTer8)
c.1225_1226insC
c.1412_1413insC (p.Pro472SerfsTer8)
c.*4621_*4622insC (n.*4621_*4622insC)
c.1151_1152insC (p.Pro385SerfsTer8)
c.5-7125_5-7124insC (n.5-7125_5-7124insC)
c.311_312insC (p.Pro105SerfsTer8)
c.-98-20886_-98-20885insC (n.-98-20886_-98-20885insC)
n.4974_4975insC
n.5015_5016insC
 ClinVar dbSNP
17g.43071075_43071076insGGCA2638062522BRCA1c.4835_4836insCC (p.Pro1613LeufsTer20)
c.4838_4839insCC (p.Pro1614LeufsTer20)
c.4712_4713insCC (p.Pro1572LeufsTer20)
c.4832_4833insCC (p.Pro1612LeufsTer20)
c.4760_4761insCC (p.Pro1588LeufsTer20)
c.1526_1527insCC (p.Pro510LeufsTer20)
c.1388_1389insCC (p.Pro464LeufsTer20)
c.3950_3951insCC (p.Pro1318LeufsTer20)
c.4715_4716insCC (p.Pro1573LeufsTer20)
c.4904_4905insCC (p.Pro1636LeufsTer20)
c.4697_4698insCC (p.Pro1567LeufsTer20)
c.1400_1401insCC (p.Pro468LeufsTer20)
c.1445_1446insCC (p.Pro483LeufsTer20)
c.4901_4902insCC (p.Pro1635LeufsTer20)
c.1225_1226insCC
c.1412_1413insCC (p.Pro472LeufsTer20)
c.*4621_*4622insCC (n.*4621_*4622insCC)
c.1151_1152insCC (p.Pro385LeufsTer20)
c.5-7125_5-7124insCC (n.5-7125_5-7124insCC)
c.311_312insCC (p.Pro105LeufsTer20)
c.-98-20886_-98-20885insCC (n.-98-20886_-98-20885insCC)
n.4974_4975insCC
n.5015_5016insCC
 gnomAD v4
17g.43071076C>ACA10591846BRCA1c.4835G>T (p.Ser1612Ile)
c.4838G>T (p.Ser1613Ile)
c.4712G>T (p.Ser1571Ile)
c.4832G>T (p.Ser1611Ile)
c.4760G>T (p.Ser1587Ile)
c.1526G>T (p.Ser509Ile)
c.1388G>T (p.Ser463Ile)
c.3950G>T (p.Ser1317Ile)
c.4715G>T (p.Ser1572Ile)
c.4904G>T (p.Ser1635Ile)
c.4697G>T (p.Ser1566Ile)
c.1400G>T (p.Ser467Ile)
c.1445G>T (p.Ser482Ile)
c.4901G>T (p.Ser1634Ile)
c.1225G>T
c.1412G>T (p.Ser471Ile)
c.*4621G>T (n.*4621G>T)
c.1151G>T (p.Ser384Ile)
c.5-7125G>T (n.5-7125G>T)
c.311G>T (p.Ser104Ile)
c.-98-20886G>T (n.-98-20886G>T)
n.4974G>T
n.5015G>T
17g.43071076C=CA2260772893BRCA1c.4835G= (p.Ser1612=)
c.4838G= (p.Ser1613=)
c.4712G= (p.Ser1571=)
c.4832G= (p.Ser1611=)
c.4760G= (p.Ser1587=)
c.1526G= (p.Ser509=)
c.1388G= (p.Ser463=)
c.3950G= (p.Ser1317=)
c.4715G= (p.Ser1572=)
c.4904G= (p.Ser1635=)
c.4697G= (p.Ser1566=)
c.1400G= (p.Ser467=)
c.1445G= (p.Ser482=)
c.4901G= (p.Ser1634=)
c.1225G=
c.1412G= (p.Ser471=)
c.*4621G= (n.*4621G=)
c.1151G= (p.Ser384=)
c.5-7125G= (n.5-7125G=)
c.311G= (p.Ser104=)
c.-98-20886G= (n.-98-20886G=)
n.4974G=
n.5015G=
17g.43071076C>GCA10591847BRCA1c.4835G>C (p.Ser1612Thr)
c.4838G>C (p.Ser1613Thr)
c.4712G>C (p.Ser1571Thr)
c.4832G>C (p.Ser1611Thr)
c.4760G>C (p.Ser1587Thr)
c.1526G>C (p.Ser509Thr)
c.1388G>C (p.Ser463Thr)
c.3950G>C (p.Ser1317Thr)
c.4715G>C (p.Ser1572Thr)
c.4904G>C (p.Ser1635Thr)
c.4697G>C (p.Ser1566Thr)
c.1400G>C (p.Ser467Thr)
c.1445G>C (p.Ser482Thr)
c.4901G>C (p.Ser1634Thr)
c.1225G>C
c.1412G>C (p.Ser471Thr)
c.*4621G>C (n.*4621G>C)
c.1151G>C (p.Ser384Thr)
c.5-7125G>C (n.5-7125G>C)
c.311G>C (p.Ser104Thr)
c.-98-20886G>C (n.-98-20886G>C)
n.4974G>C
n.5015G>C
 dbSNP
17g.43071076C>TCA10591848BRCA1c.4835G>A (p.Ser1612Asn)
c.4838G>A (p.Ser1613Asn)
c.4712G>A (p.Ser1571Asn)
c.4832G>A (p.Ser1611Asn)
c.4760G>A (p.Ser1587Asn)
c.1526G>A (p.Ser509Asn)
c.1388G>A (p.Ser463Asn)
c.3950G>A (p.Ser1317Asn)
c.4715G>A (p.Ser1572Asn)
c.4904G>A (p.Ser1635Asn)
c.4697G>A (p.Ser1566Asn)
c.1400G>A (p.Ser467Asn)
c.1445G>A (p.Ser482Asn)
c.4901G>A (p.Ser1634Asn)
c.1225G>A
c.1412G>A (p.Ser471Asn)
c.*4621G>A (n.*4621G>A)
c.1151G>A (p.Ser384Asn)
c.5-7125G>A (n.5-7125G>A)
c.311G>A (p.Ser104Asn)
c.-98-20886G>A (n.-98-20886G>A)
n.4974G>A
n.5015G>A
 ClinVar dbSNP gnomAD v4
17g.43071076dupCA2499224394BRCA1c.4835dup (p.Ser1612ArgfsTer9)
c.4838dup (p.Ser1613ArgfsTer9)
c.4712dup (p.Ser1571ArgfsTer9)
c.4832dup (p.Ser1611ArgfsTer9)
c.4760dup (p.Ser1587ArgfsTer9)
c.1526dup (p.Ser509ArgfsTer9)
c.1388dup (p.Ser463ArgfsTer9)
c.3950dup (p.Ser1317ArgfsTer9)
c.4715dup (p.Ser1572ArgfsTer9)
c.4904dup (p.Ser1635ArgfsTer9)
c.4697dup (p.Ser1566ArgfsTer9)
c.1400dup (p.Ser467ArgfsTer9)
c.1445dup (p.Ser482ArgfsTer9)
c.4901dup (p.Ser1634ArgfsTer9)
c.1225dup
c.1412dup (p.Ser471ArgfsTer9)
c.*4621dup (n.*4621dup)
c.1151dup (p.Ser384ArgfsTer9)
c.5-7125dup (n.5-7125dup)
c.311dup (p.Ser104ArgfsTer9)
c.-98-20886dup (n.-98-20886dup)
n.4974dup
n.5015dup
17g.43071076_43071077delinsCTCA2260772892BRCA1c.4834_4835delinsAG (p.Ser1612=)
c.4837_4838delinsAG (p.Ser1613=)
c.4711_4712delinsAG (p.Ser1571=)
c.4831_4832delinsAG (p.Ser1611=)
c.4759_4760delinsAG (p.Ser1587=)
c.1525_1526delinsAG (p.Ser509=)
c.1387_1388delinsAG (p.Ser463=)
c.3949_3950delinsAG (p.Ser1317=)
c.4714_4715delinsAG (p.Ser1572=)
c.4903_4904delinsAG (p.Ser1635=)
c.4696_4697delinsAG (p.Ser1566=)
c.1399_1400delinsAG (p.Ser467=)
c.1444_1445delinsAG (p.Ser482=)
c.4900_4901delinsAG (p.Ser1634=)
c.1224_1225delinsAG
c.1411_1412delinsAG (p.Ser471=)
c.*4620_*4621delinsAG (n.*4620_*4621delinsAG)
c.1150_1151delinsAG (p.Ser384=)
c.5-7126_5-7125delinsAG (n.5-7126_5-7125delinsAG)
c.310_311delinsAG (p.Ser104=)
c.-98-20887_-98-20886delinsAG (n.-98-20887_-98-20886delinsAG)
n.4973_4974delinsAG
n.5014_5015delinsAG
17g.43071076_43071077delinsTCCA913188824BRCA1c.4834_4835delinsGA (p.Ser1612Asp)
c.4837_4838delinsGA (p.Ser1613Asp)
c.4711_4712delinsGA (p.Ser1571Asp)
c.4831_4832delinsGA (p.Ser1611Asp)
c.4759_4760delinsGA (p.Ser1587Asp)
c.1525_1526delinsGA (p.Ser509Asp)
c.1387_1388delinsGA (p.Ser463Asp)
c.3949_3950delinsGA (p.Ser1317Asp)
c.4714_4715delinsGA (p.Ser1572Asp)
c.4903_4904delinsGA (p.Ser1635Asp)
c.4696_4697delinsGA (p.Ser1566Asp)
c.1399_1400delinsGA (p.Ser467Asp)
c.1444_1445delinsGA (p.Ser482Asp)
c.4900_4901delinsGA (p.Ser1634Asp)
c.1224_1225delinsGA
c.1411_1412delinsGA (p.Ser471Asp)
c.*4620_*4621delinsGA (n.*4620_*4621delinsGA)
c.1150_1151delinsGA (p.Ser384Asp)
c.5-7126_5-7125delinsGA (n.5-7126_5-7125delinsGA)
c.310_311delinsGA (p.Ser104Asp)
c.-98-20887_-98-20886delinsGA (n.-98-20887_-98-20886delinsGA)
n.4973_4974delinsGA
n.5014_5015delinsGA
 ClinVar dbSNP
17g.43071076_43071077delinsGGCCA003043BRCA1c.4834_4835delinsGCC (p.Ser1612AlafsTer9)
c.4837_4838delinsGCC (p.Ser1613AlafsTer9)
c.4711_4712delinsGCC (p.Ser1571AlafsTer9)
c.4831_4832delinsGCC (p.Ser1611AlafsTer9)
c.4759_4760delinsGCC (p.Ser1587AlafsTer9)
c.1525_1526delinsGCC (p.Ser509AlafsTer9)
c.1387_1388delinsGCC (p.Ser463AlafsTer9)
c.3949_3950delinsGCC (p.Ser1317AlafsTer9)
c.4714_4715delinsGCC (p.Ser1572AlafsTer9)
c.4903_4904delinsGCC (p.Ser1635AlafsTer9)
c.4696_4697delinsGCC (p.Ser1566AlafsTer9)
c.1399_1400delinsGCC (p.Ser467AlafsTer9)
c.1444_1445delinsGCC (p.Ser482AlafsTer9)
c.4900_4901delinsGCC (p.Ser1634AlafsTer9)
c.1224_1225delinsGCC
c.1411_1412delinsGCC (p.Ser471AlafsTer9)
c.*4620_*4621delinsGCC (n.*4620_*4621delinsGCC)
c.1150_1151delinsGCC (p.Ser384AlafsTer9)
c.5-7126_5-7125delinsGCC (n.5-7126_5-7125delinsGCC)
c.310_311delinsGCC (p.Ser104AlafsTer9)
c.-98-20887_-98-20886delinsGCC (n.-98-20887_-98-20886delinsGCC)
n.4973_4974delinsGCC
n.5014_5015delinsGCC
 ClinVar dbSNP
17g.43071077delCA003046BRCA1c.4834del (p.Ser1612ValfsTer20)
c.4837del (p.Ser1613ValfsTer20)
c.4711del (p.Ser1571ValfsTer20)
c.4831del (p.Ser1611ValfsTer20)
c.4759del (p.Ser1587ValfsTer20)
c.1525del (p.Ser509ValfsTer20)
c.1387del (p.Ser463ValfsTer20)
c.3949del (p.Ser1317ValfsTer20)
c.4714del (p.Ser1572ValfsTer20)
c.4903del (p.Ser1635ValfsTer20)
c.4696del (p.Ser1566ValfsTer20)
c.1399del (p.Ser467ValfsTer20)
c.1444del (p.Ser482ValfsTer20)
c.4900del (p.Ser1634ValfsTer20)
c.1224del
c.1411del (p.Ser471ValfsTer20)
c.*4620del (n.*4620del)
c.1150del (p.Ser384ValfsTer20)
c.5-7126del (n.5-7126del)
c.310del (p.Ser104ValfsTer20)
c.-98-20887del (n.-98-20887del)
n.4973del
n.5014del
 ClinVar dbSNP gnomAD v4
17g.43071077T>ACA003045BRCA1c.4834A>T (p.Ser1612Cys)
c.4837A>T (p.Ser1613Cys)
c.4711A>T (p.Ser1571Cys)
c.4831A>T (p.Ser1611Cys)
c.4759A>T (p.Ser1587Cys)
c.1525A>T (p.Ser509Cys)
c.1387A>T (p.Ser463Cys)
c.3949A>T (p.Ser1317Cys)
c.4714A>T (p.Ser1572Cys)
c.4903A>T (p.Ser1635Cys)
c.4696A>T (p.Ser1566Cys)
c.1399A>T (p.Ser467Cys)
c.1444A>T (p.Ser482Cys)
c.4900A>T (p.Ser1634Cys)
c.1224A>T
c.1411A>T (p.Ser471Cys)
c.*4620A>T (n.*4620A>T)
c.1150A>T (p.Ser384Cys)
c.5-7126A>T (n.5-7126A>T)
c.310A>T (p.Ser104Cys)
c.-98-20887A>T (n.-98-20887A>T)
n.4973A>T
n.5014A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071077T>CCA003044BRCA1c.4834A>G (p.Ser1612Gly)
c.4837A>G (p.Ser1613Gly)
c.4711A>G (p.Ser1571Gly)
c.4831A>G (p.Ser1611Gly)
c.4759A>G (p.Ser1587Gly)
c.1525A>G (p.Ser509Gly)
c.1387A>G (p.Ser463Gly)
c.3949A>G (p.Ser1317Gly)
c.4714A>G (p.Ser1572Gly)
c.4903A>G (p.Ser1635Gly)
c.4696A>G (p.Ser1566Gly)
c.1399A>G (p.Ser467Gly)
c.1444A>G (p.Ser482Gly)
c.4900A>G (p.Ser1634Gly)
c.1224A>G
c.1411A>G (p.Ser471Gly)
c.*4620A>G (n.*4620A>G)
c.1150A>G (p.Ser384Gly)
c.5-7126A>G (n.5-7126A>G)
c.310A>G (p.Ser104Gly)
c.-98-20887A>G (n.-98-20887A>G)
n.4973A>G
n.5014A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071077T>GCA10591849BRCA1c.4834A>C (p.Ser1612Arg)
c.4837A>C (p.Ser1613Arg)
c.4711A>C (p.Ser1571Arg)
c.4831A>C (p.Ser1611Arg)
c.4759A>C (p.Ser1587Arg)
c.1525A>C (p.Ser509Arg)
c.1387A>C (p.Ser463Arg)
c.3949A>C (p.Ser1317Arg)
c.4714A>C (p.Ser1572Arg)
c.4903A>C (p.Ser1635Arg)
c.4696A>C (p.Ser1566Arg)
c.1399A>C (p.Ser467Arg)
c.1444A>C (p.Ser482Arg)
c.4900A>C (p.Ser1634Arg)
c.1224A>C
c.1411A>C (p.Ser471Arg)
c.*4620A>C (n.*4620A>C)
c.1150A>C (p.Ser384Arg)
c.5-7126A>C (n.5-7126A>C)
c.310A>C (p.Ser104Arg)
c.-98-20887A>C (n.-98-20887A>C)
n.4973A>C
n.5014A>C
 ClinVar dbSNP
17g.43071077T=CA2260772894BRCA1c.4834A= (p.Ser1612=)
c.4837A= (p.Ser1613=)
c.4711A= (p.Ser1571=)
c.4831A= (p.Ser1611=)
c.4759A= (p.Ser1587=)
c.1525A= (p.Ser509=)
c.1387A= (p.Ser463=)
c.3949A= (p.Ser1317=)
c.4714A= (p.Ser1572=)
c.4903A= (p.Ser1635=)
c.4696A= (p.Ser1566=)
c.1399A= (p.Ser467=)
c.1444A= (p.Ser482=)
c.4900A= (p.Ser1634=)
c.1224A=
c.1411A= (p.Ser471=)
c.*4620A= (n.*4620A=)
c.1150A= (p.Ser384=)
c.5-7126A= (n.5-7126A=)
c.310A= (p.Ser104=)
c.-98-20887A= (n.-98-20887A=)
n.4973A=
n.5014A=
17g.43071078C>ACA053308BRCA1c.4833G>T (p.Gln1611His)
c.4836G>T (p.Gln1612His)
c.4710G>T (p.Gln1570His)
c.4830G>T (p.Gln1610His)
c.4758G>T (p.Gln1586His)
c.1524G>T (p.Gln508His)
c.1386G>T (p.Gln462His)
c.3948G>T (p.Gln1316His)
c.4713G>T (p.Gln1571His)
c.4902G>T (p.Gln1634His)
c.4695G>T (p.Gln1565His)
c.1398G>T (p.Gln466His)
c.1443G>T (p.Gln481His)
c.4899G>T (p.Gln1633His)
c.1223G>T
c.1410G>T (p.Gln470His)
c.*4619G>T (n.*4619G>T)
c.1149G>T (p.Gln383His)
c.5-7127G>T (n.5-7127G>T)
c.309G>T (p.Gln103His)
c.-98-20888G>T (n.-98-20888G>T)
n.4972G>T
n.5013G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071078C=CA2260772896BRCA1c.4833G= (p.Gln1611=)
c.4836G= (p.Gln1612=)
c.4710G= (p.Gln1570=)
c.4830G= (p.Gln1610=)
c.4758G= (p.Gln1586=)
c.1524G= (p.Gln508=)
c.1386G= (p.Gln462=)
c.3948G= (p.Gln1316=)
c.4713G= (p.Gln1571=)
c.4902G= (p.Gln1634=)
c.4695G= (p.Gln1565=)
c.1398G= (p.Gln466=)
c.1443G= (p.Gln481=)
c.4899G= (p.Gln1633=)
c.1223G=
c.1410G= (p.Gln470=)
c.*4619G= (n.*4619G=)
c.1149G= (p.Gln383=)
c.5-7127G= (n.5-7127G=)
c.309G= (p.Gln103=)
c.-98-20888G= (n.-98-20888G=)
n.4972G=
n.5013G=
17g.43071078C>GCA003042BRCA1c.4833G>C (p.Gln1611His)
c.4836G>C (p.Gln1612His)
c.4710G>C (p.Gln1570His)
c.4830G>C (p.Gln1610His)
c.4758G>C (p.Gln1586His)
c.1524G>C (p.Gln508His)
c.1386G>C (p.Gln462His)
c.3948G>C (p.Gln1316His)
c.4713G>C (p.Gln1571His)
c.4902G>C (p.Gln1634His)
c.4695G>C (p.Gln1565His)
c.1398G>C (p.Gln466His)
c.1443G>C (p.Gln481His)
c.4899G>C (p.Gln1633His)
c.1223G>C
c.1410G>C (p.Gln470His)
c.*4619G>C (n.*4619G>C)
c.1149G>C (p.Gln383His)
c.5-7127G>C (n.5-7127G>C)
c.309G>C (p.Gln103His)
c.-98-20888G>C (n.-98-20888G>C)
n.4972G>C
n.5013G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071078C>TCA500231808BRCA1c.4833G>A (p.Gln1611=)
c.4836G>A (p.Gln1612=)
c.4710G>A (p.Gln1570=)
c.4830G>A (p.Gln1610=)
c.4758G>A (p.Gln1586=)
c.1524G>A (p.Gln508=)
c.1386G>A (p.Gln462=)
c.3948G>A (p.Gln1316=)
c.4713G>A (p.Gln1571=)
c.4902G>A (p.Gln1634=)
c.4695G>A (p.Gln1565=)
c.1398G>A (p.Gln466=)
c.1443G>A (p.Gln481=)
c.4899G>A (p.Gln1633=)
c.1223G>A
c.1410G>A (p.Gln470=)
c.*4619G>A (n.*4619G>A)
c.1149G>A (p.Gln383=)
c.5-7127G>A (n.5-7127G>A)
c.309G>A (p.Gln103=)
c.-98-20888G>A (n.-98-20888G>A)
n.4972G>A
n.5013G>A
 ClinVar dbSNP
17g.43071078dupCA327949BRCA1c.4833dup (p.Ser1612GlufsTer9)
c.4836dup (p.Ser1613GlufsTer9)
c.4710dup (p.Ser1571GlufsTer9)
c.4830dup (p.Ser1611GlufsTer9)
c.4758dup (p.Ser1587GlufsTer9)
c.1524dup (p.Ser509GlufsTer9)
c.1386dup (p.Ser463GlufsTer9)
c.3948dup (p.Ser1317GlufsTer9)
c.4713dup (p.Ser1572GlufsTer9)
c.4902dup (p.Ser1635GlufsTer9)
c.4695dup (p.Ser1566GlufsTer9)
c.1398dup (p.Ser467GlufsTer9)
c.1443dup (p.Ser482GlufsTer9)
c.4899dup (p.Ser1634GlufsTer9)
c.1223dup
c.1410dup (p.Ser471GlufsTer9)
c.*4619dup (n.*4619dup)
c.1149dup (p.Ser384GlufsTer9)
c.5-7127dup (n.5-7127dup)
c.309dup (p.Ser104GlufsTer9)
c.-98-20888dup (n.-98-20888dup)
n.4972dup
n.5013dup
 ClinVar dbSNP
17g.43071078_43071080delinsCTGCA2260772895BRCA1c.4831_4833delinsCAG (p.Gln1611=)
c.4834_4836delinsCAG (p.Gln1612=)
c.4708_4710delinsCAG (p.Gln1570=)
c.4828_4830delinsCAG (p.Gln1610=)
c.4756_4758delinsCAG (p.Gln1586=)
c.1522_1524delinsCAG (p.Gln508=)
c.1384_1386delinsCAG (p.Gln462=)
c.3946_3948delinsCAG (p.Gln1316=)
c.4711_4713delinsCAG (p.Gln1571=)
c.4900_4902delinsCAG (p.Gln1634=)
c.4693_4695delinsCAG (p.Gln1565=)
c.1396_1398delinsCAG (p.Gln466=)
c.1441_1443delinsCAG (p.Gln481=)
c.4897_4899delinsCAG (p.Gln1633=)
c.1221_1223delinsCAG
c.1408_1410delinsCAG (p.Gln470=)
c.*4617_*4619delinsCAG (n.*4617_*4619delinsCAG)
c.1147_1149delinsCAG (p.Gln383=)
c.5-7129_5-7127delinsCAG (n.5-7129_5-7127delinsCAG)
c.307_309delinsCAG (p.Gln103=)
c.-98-20890_-98-20888delinsCAG (n.-98-20890_-98-20888delinsCAG)
n.4970_4972delinsCAG
n.5011_5013delinsCAG
17g.43071079T>ACA10591850BRCA1c.4832A>T (p.Gln1611Leu)
c.4835A>T (p.Gln1612Leu)
c.4709A>T (p.Gln1570Leu)
c.4829A>T (p.Gln1610Leu)
c.4757A>T (p.Gln1586Leu)
c.1523A>T (p.Gln508Leu)
c.1385A>T (p.Gln462Leu)
c.3947A>T (p.Gln1316Leu)
c.4712A>T (p.Gln1571Leu)
c.4901A>T (p.Gln1634Leu)
c.4694A>T (p.Gln1565Leu)
c.1397A>T (p.Gln466Leu)
c.1442A>T (p.Gln481Leu)
c.4898A>T (p.Gln1633Leu)
c.1222A>T
c.1409A>T (p.Gln470Leu)
c.*4618A>T (n.*4618A>T)
c.1148A>T (p.Gln383Leu)
c.5-7128A>T (n.5-7128A>T)
c.308A>T (p.Gln103Leu)
c.-98-20889A>T (n.-98-20889A>T)
n.4971A>T
n.5012A>T
 ClinVar dbSNP
17g.43071079T>CCA10591851BRCA1c.4832A>G (p.Gln1611Arg)
c.4835A>G (p.Gln1612Arg)
c.4709A>G (p.Gln1570Arg)
c.4829A>G (p.Gln1610Arg)
c.4757A>G (p.Gln1586Arg)
c.1523A>G (p.Gln508Arg)
c.1385A>G (p.Gln462Arg)
c.3947A>G (p.Gln1316Arg)
c.4712A>G (p.Gln1571Arg)
c.4901A>G (p.Gln1634Arg)
c.4694A>G (p.Gln1565Arg)
c.1397A>G (p.Gln466Arg)
c.1442A>G (p.Gln481Arg)
c.4898A>G (p.Gln1633Arg)
c.1222A>G
c.1409A>G (p.Gln470Arg)
c.*4618A>G (n.*4618A>G)
c.1148A>G (p.Gln383Arg)
c.5-7128A>G (n.5-7128A>G)
c.308A>G (p.Gln103Arg)
c.-98-20889A>G (n.-98-20889A>G)
n.4971A>G
n.5012A>G
 ClinVar
17g.43071079T>GCA10591852BRCA1c.4832A>C (p.Gln1611Pro)
c.4835A>C (p.Gln1612Pro)
c.4709A>C (p.Gln1570Pro)
c.4829A>C (p.Gln1610Pro)
c.4757A>C (p.Gln1586Pro)
c.1523A>C (p.Gln508Pro)
c.1385A>C (p.Gln462Pro)
c.3947A>C (p.Gln1316Pro)
c.4712A>C (p.Gln1571Pro)
c.4901A>C (p.Gln1634Pro)
c.4694A>C (p.Gln1565Pro)
c.1397A>C (p.Gln466Pro)
c.1442A>C (p.Gln481Pro)
c.4898A>C (p.Gln1633Pro)
c.1222A>C
c.1409A>C (p.Gln470Pro)
c.*4618A>C (n.*4618A>C)
c.1148A>C (p.Gln383Pro)
c.5-7128A>C (n.5-7128A>C)
c.308A>C (p.Gln103Pro)
c.-98-20889A>C (n.-98-20889A>C)
n.4971A>C
n.5012A>C
17g.43071079T=CA2260772898BRCA1c.4832A= (p.Gln1611=)
c.4835A= (p.Gln1612=)
c.4709A= (p.Gln1570=)
c.4829A= (p.Gln1610=)
c.4757A= (p.Gln1586=)
c.1523A= (p.Gln508=)
c.1385A= (p.Gln462=)
c.3947A= (p.Gln1316=)
c.4712A= (p.Gln1571=)
c.4901A= (p.Gln1634=)
c.4694A= (p.Gln1565=)
c.1397A= (p.Gln466=)
c.1442A= (p.Gln481=)
c.4898A= (p.Gln1633=)
c.1222A=
c.1409A= (p.Gln470=)
c.*4618A= (n.*4618A=)
c.1148A= (p.Gln383=)
c.5-7128A= (n.5-7128A=)
c.308A= (p.Gln103=)
c.-98-20889A= (n.-98-20889A=)
n.4971A=
n.5012A=
17g.43071079_43071080delCA658653684BRCA1c.4831_4832del (p.Gln1611GlufsTer9)
c.4834_4835del (p.Gln1612GlufsTer9)
c.4708_4709del (p.Gln1570GlufsTer9)
c.4828_4829del (p.Gln1610GlufsTer9)
c.4756_4757del (p.Gln1586GlufsTer9)
c.1522_1523del (p.Gln508GlufsTer9)
c.1384_1385del (p.Gln462GlufsTer9)
c.3946_3947del (p.Gln1316GlufsTer9)
c.4711_4712del (p.Gln1571GlufsTer9)
c.4900_4901del (p.Gln1634GlufsTer9)
c.4693_4694del (p.Gln1565GlufsTer9)
c.1396_1397del (p.Gln466GlufsTer9)
c.1441_1442del (p.Gln481GlufsTer9)
c.4897_4898del (p.Gln1633GlufsTer9)
c.1221_1222del
c.1408_1409del (p.Gln470GlufsTer9)
c.*4617_*4618del (n.*4617_*4618del)
c.1147_1148del (p.Gln383GlufsTer9)
c.5-7129_5-7128del (n.5-7129_5-7128del)
c.307_308del (p.Gln103GlufsTer9)
c.-98-20890_-98-20889del (n.-98-20890_-98-20889del)
n.4970_4971del
n.5011_5012del
 ClinVar dbSNP
17g.43071079_43071080delinsTGCA2260772897BRCA1c.4831_4832delinsCA (p.Gln1611=)
c.4834_4835delinsCA (p.Gln1612=)
c.4708_4709delinsCA (p.Gln1570=)
c.4828_4829delinsCA (p.Gln1610=)
c.4756_4757delinsCA (p.Gln1586=)
c.1522_1523delinsCA (p.Gln508=)
c.1384_1385delinsCA (p.Gln462=)
c.3946_3947delinsCA (p.Gln1316=)
c.4711_4712delinsCA (p.Gln1571=)
c.4900_4901delinsCA (p.Gln1634=)
c.4693_4694delinsCA (p.Gln1565=)
c.1396_1397delinsCA (p.Gln466=)
c.1441_1442delinsCA (p.Gln481=)
c.4897_4898delinsCA (p.Gln1633=)
c.1221_1222delinsCA
c.1408_1409delinsCA (p.Gln470=)
c.*4617_*4618delinsCA (n.*4617_*4618delinsCA)
c.1147_1148delinsCA (p.Gln383=)
c.5-7129_5-7128delinsCA (n.5-7129_5-7128delinsCA)
c.307_308delinsCA (p.Gln103=)
c.-98-20890_-98-20889delinsCA (n.-98-20890_-98-20889delinsCA)
n.4970_4971delinsCA
n.5011_5012delinsCA
17g.43071080G>ACA003041BRCA1c.4831C>T (p.Gln1611Ter)
c.4834C>T (p.Gln1612Ter)
c.4708C>T (p.Gln1570Ter)
c.4828C>T (p.Gln1610Ter)
c.4756C>T (p.Gln1586Ter)
c.1522C>T (p.Gln508Ter)
c.1384C>T (p.Gln462Ter)
c.3946C>T (p.Gln1316Ter)
c.4711C>T (p.Gln1571Ter)
c.4900C>T (p.Gln1634Ter)
c.4693C>T (p.Gln1565Ter)
c.1396C>T (p.Gln466Ter)
c.1441C>T (p.Gln481Ter)
c.4897C>T (p.Gln1633Ter)
c.1221C>T
c.1408C>T (p.Gln470Ter)
c.*4617C>T (n.*4617C>T)
c.1147C>T (p.Gln383Ter)
c.5-7129C>T (n.5-7129C>T)
c.307C>T (p.Gln103Ter)
c.-98-20890C>T (n.-98-20890C>T)
n.4970C>T
n.5011C>T
 ClinVar dbSNP
17g.43071080G>CCA10591853BRCA1c.4831C>G (p.Gln1611Glu)
c.4834C>G (p.Gln1612Glu)
c.4708C>G (p.Gln1570Glu)
c.4828C>G (p.Gln1610Glu)
c.4756C>G (p.Gln1586Glu)
c.1522C>G (p.Gln508Glu)
c.1384C>G (p.Gln462Glu)
c.3946C>G (p.Gln1316Glu)
c.4711C>G (p.Gln1571Glu)
c.4900C>G (p.Gln1634Glu)
c.4693C>G (p.Gln1565Glu)
c.1396C>G (p.Gln466Glu)
c.1441C>G (p.Gln481Glu)
c.4897C>G (p.Gln1633Glu)
c.1221C>G
c.1408C>G (p.Gln470Glu)
c.*4617C>G (n.*4617C>G)
c.1147C>G (p.Gln383Glu)
c.5-7129C>G (n.5-7129C>G)
c.307C>G (p.Gln103Glu)
c.-98-20890C>G (n.-98-20890C>G)
n.4970C>G
n.5011C>G
 dbSNP
17g.43071080G=CA2260772899BRCA1c.4831C= (p.Gln1611=)
c.4834C= (p.Gln1612=)
c.4708C= (p.Gln1570=)
c.4828C= (p.Gln1610=)
c.4756C= (p.Gln1586=)
c.1522C= (p.Gln508=)
c.1384C= (p.Gln462=)
c.3946C= (p.Gln1316=)
c.4711C= (p.Gln1571=)
c.4900C= (p.Gln1634=)
c.4693C= (p.Gln1565=)
c.1396C= (p.Gln466=)
c.1441C= (p.Gln481=)
c.4897C= (p.Gln1633=)
c.1221C=
c.1408C= (p.Gln470=)
c.*4617C= (n.*4617C=)
c.1147C= (p.Gln383=)
c.5-7129C= (n.5-7129C=)
c.307C= (p.Gln103=)
c.-98-20890C= (n.-98-20890C=)
n.4970C=
n.5011C=
17g.43071080G>TCA10591854BRCA1c.4831C>A (p.Gln1611Lys)
c.4834C>A (p.Gln1612Lys)
c.4708C>A (p.Gln1570Lys)
c.4828C>A (p.Gln1610Lys)
c.4756C>A (p.Gln1586Lys)
c.1522C>A (p.Gln508Lys)
c.1384C>A (p.Gln462Lys)
c.3946C>A (p.Gln1316Lys)
c.4711C>A (p.Gln1571Lys)
c.4900C>A (p.Gln1634Lys)
c.4693C>A (p.Gln1565Lys)
c.1396C>A (p.Gln466Lys)
c.1441C>A (p.Gln481Lys)
c.4897C>A (p.Gln1633Lys)
c.1221C>A
c.1408C>A (p.Gln470Lys)
c.*4617C>A (n.*4617C>A)
c.1147C>A (p.Gln383Lys)
c.5-7129C>A (n.5-7129C>A)
c.307C>A (p.Gln103Lys)
c.-98-20890C>A (n.-98-20890C>A)
n.4970C>A
n.5011C>A
 dbSNP
17g.43071082delCA10589643BRCA1c.4831del (p.Gln1611ArgfsTer21)
c.4834del (p.Gln1612ArgfsTer21)
c.4708del (p.Gln1570ArgfsTer21)
c.4828del (p.Gln1610ArgfsTer21)
c.4756del (p.Gln1586ArgfsTer21)
c.1522del (p.Gln508ArgfsTer21)
c.1384del (p.Gln462ArgfsTer21)
c.3946del (p.Gln1316ArgfsTer21)
c.4711del (p.Gln1571ArgfsTer21)
c.4900del (p.Gln1634ArgfsTer21)
c.4693del (p.Gln1565ArgfsTer21)
c.1396del (p.Gln466ArgfsTer21)
c.1441del (p.Gln481ArgfsTer21)
c.4897del (p.Gln1633ArgfsTer21)
c.1221del
c.1408del (p.Gln470ArgfsTer21)
c.*4617del (n.*4617del)
c.1147del (p.Gln383ArgfsTer21)
c.5-7129del (n.5-7129del)
c.307del (p.Gln103ArgfsTer21)
c.-98-20890del (n.-98-20890del)
n.4970del
n.5011del
 ClinVar dbSNP
17g.43071081G>ACA003040BRCA1c.4830C>T (p.Ala1610=)
c.4833C>T (p.Ala1611=)
c.4707C>T (p.Ala1569=)
c.4827C>T (p.Ala1609=)
c.4755C>T (p.Ala1585=)
c.1521C>T (p.Ala507=)
c.1383C>T (p.Ala461=)
c.3945C>T (p.Ala1315=)
c.4710C>T (p.Ala1570=)
c.4899C>T (p.Ala1633=)
c.4692C>T (p.Ala1564=)
c.1395C>T (p.Ala465=)
c.1440C>T (p.Ala480=)
c.4896C>T (p.Ala1632=)
c.1220C>T
c.1407C>T (p.Ala469=)
c.*4616C>T (n.*4616C>T)
c.1146C>T (p.Ala382=)
c.5-7130C>T (n.5-7130C>T)
c.306C>T (p.Ala102=)
c.-98-20891C>T (n.-98-20891C>T)
n.4969C>T
n.5010C>T
 ClinVar dbSNP
17g.43071081G>CCA500231809BRCA1c.4830C>G (p.Ala1610=)
c.4833C>G (p.Ala1611=)
c.4707C>G (p.Ala1569=)
c.4827C>G (p.Ala1609=)
c.4755C>G (p.Ala1585=)
c.1521C>G (p.Ala507=)
c.1383C>G (p.Ala461=)
c.3945C>G (p.Ala1315=)
c.4710C>G (p.Ala1570=)
c.4899C>G (p.Ala1633=)
c.4692C>G (p.Ala1564=)
c.1395C>G (p.Ala465=)
c.1440C>G (p.Ala480=)
c.4896C>G (p.Ala1632=)
c.1220C>G
c.1407C>G (p.Ala469=)
c.*4616C>G (n.*4616C>G)
c.1146C>G (p.Ala382=)
c.5-7130C>G (n.5-7130C>G)
c.306C>G (p.Ala102=)
c.-98-20891C>G (n.-98-20891C>G)
n.4969C>G
n.5010C>G
 dbSNP
17g.43071081G=CA2260772900BRCA1c.4830C= (p.Ala1610=)
c.4833C= (p.Ala1611=)
c.4707C= (p.Ala1569=)
c.4827C= (p.Ala1609=)
c.4755C= (p.Ala1585=)
c.1521C= (p.Ala507=)
c.1383C= (p.Ala461=)
c.3945C= (p.Ala1315=)
c.4710C= (p.Ala1570=)
c.4899C= (p.Ala1633=)
c.4692C= (p.Ala1564=)
c.1395C= (p.Ala465=)
c.1440C= (p.Ala480=)
c.4896C= (p.Ala1632=)
c.1220C=
c.1407C= (p.Ala469=)
c.*4616C= (n.*4616C=)
c.1146C= (p.Ala382=)
c.5-7130C= (n.5-7130C=)
c.306C= (p.Ala102=)
c.-98-20891C= (n.-98-20891C=)
n.4969C=
n.5010C=
17g.43071081G>TCA500231810BRCA1c.4830C>A (p.Ala1610=)
c.4833C>A (p.Ala1611=)
c.4707C>A (p.Ala1569=)
c.4827C>A (p.Ala1609=)
c.4755C>A (p.Ala1585=)
c.1521C>A (p.Ala507=)
c.1383C>A (p.Ala461=)
c.3945C>A (p.Ala1315=)
c.4710C>A (p.Ala1570=)
c.4899C>A (p.Ala1633=)
c.4692C>A (p.Ala1564=)
c.1395C>A (p.Ala465=)
c.1440C>A (p.Ala480=)
c.4896C>A (p.Ala1632=)
c.1220C>A
c.1407C>A (p.Ala469=)
c.*4616C>A (n.*4616C>A)
c.1146C>A (p.Ala382=)
c.5-7130C>A (n.5-7130C>A)
c.306C>A (p.Ala102=)
c.-98-20891C>A (n.-98-20891C>A)
n.4969C>A
n.5010C>A
 dbSNP
17g.43071082G>ACA10591855BRCA1c.4829C>T (p.Ala1610Val)
c.4832C>T (p.Ala1611Val)
c.4706C>T (p.Ala1569Val)
c.4826C>T (p.Ala1609Val)
c.4754C>T (p.Ala1585Val)
c.1520C>T (p.Ala507Val)
c.1382C>T (p.Ala461Val)
c.3944C>T (p.Ala1315Val)
c.4709C>T (p.Ala1570Val)
c.4898C>T (p.Ala1633Val)
c.4691C>T (p.Ala1564Val)
c.1394C>T (p.Ala465Val)
c.1439C>T (p.Ala480Val)
c.4895C>T (p.Ala1632Val)
c.1219C>T
c.1406C>T (p.Ala469Val)
c.*4615C>T (n.*4615C>T)
c.1145C>T (p.Ala382Val)
c.5-7131C>T (n.5-7131C>T)
c.305C>T (p.Ala102Val)
c.-98-20892C>T (n.-98-20892C>T)
n.4968C>T
n.5009C>T
 ClinVar dbSNP
17g.43071082G>CCA10591856BRCA1c.4829C>G (p.Ala1610Gly)
c.4832C>G (p.Ala1611Gly)
c.4706C>G (p.Ala1569Gly)
c.4826C>G (p.Ala1609Gly)
c.4754C>G (p.Ala1585Gly)
c.1520C>G (p.Ala507Gly)
c.1382C>G (p.Ala461Gly)
c.3944C>G (p.Ala1315Gly)
c.4709C>G (p.Ala1570Gly)
c.4898C>G (p.Ala1633Gly)
c.4691C>G (p.Ala1564Gly)
c.1394C>G (p.Ala465Gly)
c.1439C>G (p.Ala480Gly)
c.4895C>G (p.Ala1632Gly)
c.1219C>G
c.1406C>G (p.Ala469Gly)
c.*4615C>G (n.*4615C>G)
c.1145C>G (p.Ala382Gly)
c.5-7131C>G (n.5-7131C>G)
c.305C>G (p.Ala102Gly)
c.-98-20892C>G (n.-98-20892C>G)
n.4968C>G
n.5009C>G
 dbSNP
17g.43071082G>TCA10591857BRCA1c.4829C>A (p.Ala1610Asp)
c.4832C>A (p.Ala1611Asp)
c.4706C>A (p.Ala1569Asp)
c.4826C>A (p.Ala1609Asp)
c.4754C>A (p.Ala1585Asp)
c.1520C>A (p.Ala507Asp)
c.1382C>A (p.Ala461Asp)
c.3944C>A (p.Ala1315Asp)
c.4709C>A (p.Ala1570Asp)
c.4898C>A (p.Ala1633Asp)
c.4691C>A (p.Ala1564Asp)
c.1394C>A (p.Ala465Asp)
c.1439C>A (p.Ala480Asp)
c.4895C>A (p.Ala1632Asp)
c.1219C>A
c.1406C>A (p.Ala469Asp)
c.*4615C>A (n.*4615C>A)
c.1145C>A (p.Ala382Asp)
c.5-7131C>A (n.5-7131C>A)
c.305C>A (p.Ala102Asp)
c.-98-20892C>A (n.-98-20892C>A)
n.4968C>A
n.5009C>A
 dbSNP
17g.43071083C>ACA10591858BRCA1c.4828G>T (p.Ala1610Ser)
c.4831G>T (p.Ala1611Ser)
c.4705G>T (p.Ala1569Ser)
c.4825G>T (p.Ala1609Ser)
c.4753G>T (p.Ala1585Ser)
c.1519G>T (p.Ala507Ser)
c.1381G>T (p.Ala461Ser)
c.3943G>T (p.Ala1315Ser)
c.4708G>T (p.Ala1570Ser)
c.4897G>T (p.Ala1633Ser)
c.4690G>T (p.Ala1564Ser)
c.1393G>T (p.Ala465Ser)
c.1438G>T (p.Ala480Ser)
c.4894G>T (p.Ala1632Ser)
c.1218G>T
c.1405G>T (p.Ala469Ser)
c.*4614G>T (n.*4614G>T)
c.1144G>T (p.Ala382Ser)
c.5-7132G>T (n.5-7132G>T)
c.304G>T (p.Ala102Ser)
c.-98-20893G>T (n.-98-20893G>T)
n.4967G>T
n.5008G>T
 ClinVar dbSNP
17g.43071083C=CA2260772901BRCA1c.4828G= (p.Ala1610=)
c.4831G= (p.Ala1611=)
c.4705G= (p.Ala1569=)
c.4825G= (p.Ala1609=)
c.4753G= (p.Ala1585=)
c.1519G= (p.Ala507=)
c.1381G= (p.Ala461=)
c.3943G= (p.Ala1315=)
c.4708G= (p.Ala1570=)
c.4897G= (p.Ala1633=)
c.4690G= (p.Ala1564=)
c.1393G= (p.Ala465=)
c.1438G= (p.Ala480=)
c.4894G= (p.Ala1632=)
c.1218G=
c.1405G= (p.Ala469=)
c.*4614G= (n.*4614G=)
c.1144G= (p.Ala382=)
c.5-7132G= (n.5-7132G=)
c.304G= (p.Ala102=)
c.-98-20893G= (n.-98-20893G=)
n.4967G=
n.5008G=
17g.43071083C>GCA10591859BRCA1c.4828G>C (p.Ala1610Pro)
c.4831G>C (p.Ala1611Pro)
c.4705G>C (p.Ala1569Pro)
c.4825G>C (p.Ala1609Pro)
c.4753G>C (p.Ala1585Pro)
c.1519G>C (p.Ala507Pro)
c.1381G>C (p.Ala461Pro)
c.3943G>C (p.Ala1315Pro)
c.4708G>C (p.Ala1570Pro)
c.4897G>C (p.Ala1633Pro)
c.4690G>C (p.Ala1564Pro)
c.1393G>C (p.Ala465Pro)
c.1438G>C (p.Ala480Pro)
c.4894G>C (p.Ala1632Pro)
c.1218G>C
c.1405G>C (p.Ala469Pro)
c.*4614G>C (n.*4614G>C)
c.1144G>C (p.Ala382Pro)
c.5-7132G>C (n.5-7132G>C)
c.304G>C (p.Ala102Pro)
c.-98-20893G>C (n.-98-20893G>C)
n.4967G>C
n.5008G>C
 dbSNP
17g.43071083C>TCA10591860BRCA1c.4828G>A (p.Ala1610Thr)
c.4831G>A (p.Ala1611Thr)
c.4705G>A (p.Ala1569Thr)
c.4825G>A (p.Ala1609Thr)
c.4753G>A (p.Ala1585Thr)
c.1519G>A (p.Ala507Thr)
c.1381G>A (p.Ala461Thr)
c.3943G>A (p.Ala1315Thr)
c.4708G>A (p.Ala1570Thr)
c.4897G>A (p.Ala1633Thr)
c.4690G>A (p.Ala1564Thr)
c.1393G>A (p.Ala465Thr)
c.1438G>A (p.Ala480Thr)
c.4894G>A (p.Ala1632Thr)
c.1218G>A
c.1405G>A (p.Ala469Thr)
c.*4614G>A (n.*4614G>A)
c.1144G>A (p.Ala382Thr)
c.5-7132G>A (n.5-7132G>A)
c.304G>A (p.Ala102Thr)
c.-98-20893G>A (n.-98-20893G>A)
n.4967G>A
n.5008G>A
 dbSNP gnomAD v3 gnomAD v4
17g.43071084A=CA2260772902BRCA1c.4827T= (p.Ser1609=)
c.4830T= (p.Ser1610=)
c.4704T= (p.Ser1568=)
c.4824T= (p.Ser1608=)
c.4752T= (p.Ser1584=)
c.1518T= (p.Ser506=)
c.1380T= (p.Ser460=)
c.3942T= (p.Ser1314=)
c.4707T= (p.Ser1569=)
c.4896T= (p.Ser1632=)
c.4689T= (p.Ser1563=)
c.1392T= (p.Ser464=)
c.1437T= (p.Ser479=)
c.4893T= (p.Ser1631=)
c.1217T=
c.1404T= (p.Ser468=)
c.*4613T= (n.*4613T=)
c.1143T= (p.Ser381=)
c.5-7133T= (n.5-7133T=)
c.303T= (p.Ser101=)
c.-98-20894T= (n.-98-20894T=)
n.4966T=
n.5007T=
17g.43071084A>CCA500231813BRCA1c.4827T>G (p.Ser1609=)
c.4830T>G (p.Ser1610=)
c.4704T>G (p.Ser1568=)
c.4824T>G (p.Ser1608=)
c.4752T>G (p.Ser1584=)
c.1518T>G (p.Ser506=)
c.1380T>G (p.Ser460=)
c.3942T>G (p.Ser1314=)
c.4707T>G (p.Ser1569=)
c.4896T>G (p.Ser1632=)
c.4689T>G (p.Ser1563=)
c.1392T>G (p.Ser464=)
c.1437T>G (p.Ser479=)
c.4893T>G (p.Ser1631=)
c.1217T>G
c.1404T>G (p.Ser468=)
c.*4613T>G (n.*4613T>G)
c.1143T>G (p.Ser381=)
c.5-7133T>G (n.5-7133T>G)
c.303T>G (p.Ser101=)
c.-98-20894T>G (n.-98-20894T>G)
n.4966T>G
n.5007T>G
 ClinVar dbSNP
17g.43071084A>GCA500231811BRCA1c.4827T>C (p.Ser1609=)
c.4830T>C (p.Ser1610=)
c.4704T>C (p.Ser1568=)
c.4824T>C (p.Ser1608=)
c.4752T>C (p.Ser1584=)
c.1518T>C (p.Ser506=)
c.1380T>C (p.Ser460=)
c.3942T>C (p.Ser1314=)
c.4707T>C (p.Ser1569=)
c.4896T>C (p.Ser1632=)
c.4689T>C (p.Ser1563=)
c.1392T>C (p.Ser464=)
c.1437T>C (p.Ser479=)
c.4893T>C (p.Ser1631=)
c.1217T>C
c.1404T>C (p.Ser468=)
c.*4613T>C (n.*4613T>C)
c.1143T>C (p.Ser381=)
c.5-7133T>C (n.5-7133T>C)
c.303T>C (p.Ser101=)
c.-98-20894T>C (n.-98-20894T>C)
n.4966T>C
n.5007T>C
 dbSNP gnomAD v4
17g.43071084A>TCA500231812BRCA1c.4827T>A (p.Ser1609=)
c.4830T>A (p.Ser1610=)
c.4704T>A (p.Ser1568=)
c.4824T>A (p.Ser1608=)
c.4752T>A (p.Ser1584=)
c.1518T>A (p.Ser506=)
c.1380T>A (p.Ser460=)
c.3942T>A (p.Ser1314=)
c.4707T>A (p.Ser1569=)
c.4896T>A (p.Ser1632=)
c.4689T>A (p.Ser1563=)
c.1392T>A (p.Ser464=)
c.1437T>A (p.Ser479=)
c.4893T>A (p.Ser1631=)
c.1217T>A
c.1404T>A (p.Ser468=)
c.*4613T>A (n.*4613T>A)
c.1143T>A (p.Ser381=)
c.5-7133T>A (n.5-7133T>A)
c.303T>A (p.Ser101=)
c.-98-20894T>A (n.-98-20894T>A)
n.4966T>A
n.5007T>A
 dbSNP
17g.43071084_43071085delinsAGCA2260772903BRCA1c.4826_4827delinsCT (p.Ser1609=)
c.4829_4830delinsCT (p.Ser1610=)
c.4703_4704delinsCT (p.Ser1568=)
c.4823_4824delinsCT (p.Ser1608=)
c.4751_4752delinsCT (p.Ser1584=)
c.1517_1518delinsCT (p.Ser506=)
c.1379_1380delinsCT (p.Ser460=)
c.3941_3942delinsCT (p.Ser1314=)
c.4706_4707delinsCT (p.Ser1569=)
c.4895_4896delinsCT (p.Ser1632=)
c.4688_4689delinsCT (p.Ser1563=)
c.1391_1392delinsCT (p.Ser464=)
c.1436_1437delinsCT (p.Ser479=)
c.4892_4893delinsCT (p.Ser1631=)
c.1216_1217delinsCT
c.1403_1404delinsCT (p.Ser468=)
c.*4612_*4613delinsCT (n.*4612_*4613delinsCT)
c.1142_1143delinsCT (p.Ser381=)
c.5-7134_5-7133delinsCT (n.5-7134_5-7133delinsCT)
c.302_303delinsCT (p.Ser101=)
c.-98-20895_-98-20894delinsCT (n.-98-20895_-98-20894delinsCT)
n.4965_4966delinsCT
n.5006_5007delinsCT
17g.43071085_43071086delCA2739265598BRCA1c.4826_4827del (p.Ser1609CysfsTer11)
c.4829_4830del (p.Ser1610CysfsTer11)
c.4703_4704del (p.Ser1568CysfsTer11)
c.4823_4824del (p.Ser1608CysfsTer11)
c.4751_4752del (p.Ser1584CysfsTer11)
c.1517_1518del (p.Ser506CysfsTer11)
c.1379_1380del (p.Ser460CysfsTer11)
c.3941_3942del (p.Ser1314CysfsTer11)
c.4706_4707del (p.Ser1569CysfsTer11)
c.4895_4896del (p.Ser1632CysfsTer11)
c.4688_4689del (p.Ser1563CysfsTer11)
c.1391_1392del (p.Ser464CysfsTer11)
c.1436_1437del (p.Ser479CysfsTer11)
c.4892_4893del (p.Ser1631CysfsTer11)
c.1216_1217del
c.1403_1404del (p.Ser468CysfsTer11)
c.*4612_*4613del (n.*4612_*4613del)
c.1142_1143del (p.Ser381CysfsTer11)
c.5-7134_5-7133del (n.5-7134_5-7133del)
c.302_303del (p.Ser101CysfsTer11)
c.-98-20895_-98-20894del (n.-98-20895_-98-20894del)
n.4965_4966del
n.5006_5007del
 ClinVar
17g.43071085delCA1139665579BRCA1c.4826del (p.Ser1609LeufsTer23)
c.4829del (p.Ser1610LeufsTer23)
c.4703del (p.Ser1568LeufsTer23)
c.4823del (p.Ser1608LeufsTer23)
c.4751del (p.Ser1584LeufsTer23)
c.1517del (p.Ser506LeufsTer23)
c.1379del (p.Ser460LeufsTer23)
c.3941del (p.Ser1314LeufsTer23)
c.4706del (p.Ser1569LeufsTer23)
c.4895del (p.Ser1632LeufsTer23)
c.4688del (p.Ser1563LeufsTer23)
c.1391del (p.Ser464LeufsTer23)
c.1436del (p.Ser479LeufsTer23)
c.4892del (p.Ser1631LeufsTer23)
c.1216del
c.1403del (p.Ser468LeufsTer23)
c.*4612del (n.*4612del)
c.1142del (p.Ser381LeufsTer23)
c.5-7134del (n.5-7134del)
c.302del (p.Ser101LeufsTer23)
c.-98-20895del (n.-98-20895del)
n.4965del
n.5006del
 ClinVar dbSNP
17g.43071085G>ACA10591861BRCA1c.4826C>T (p.Ser1609Phe)
c.4829C>T (p.Ser1610Phe)
c.4703C>T (p.Ser1568Phe)
c.4823C>T (p.Ser1608Phe)
c.4751C>T (p.Ser1584Phe)
c.1517C>T (p.Ser506Phe)
c.1379C>T (p.Ser460Phe)
c.3941C>T (p.Ser1314Phe)
c.4706C>T (p.Ser1569Phe)
c.4895C>T (p.Ser1632Phe)
c.4688C>T (p.Ser1563Phe)
c.1391C>T (p.Ser464Phe)
c.1436C>T (p.Ser479Phe)
c.4892C>T (p.Ser1631Phe)
c.1216C>T
c.1403C>T (p.Ser468Phe)
c.*4612C>T (n.*4612C>T)
c.1142C>T (p.Ser381Phe)
c.5-7134C>T (n.5-7134C>T)
c.302C>T (p.Ser101Phe)
c.-98-20895C>T (n.-98-20895C>T)
n.4965C>T
n.5006C>T
 ClinVar dbSNP
17g.43071085G>CCA10591862BRCA1c.4826C>G (p.Ser1609Cys)
c.4829C>G (p.Ser1610Cys)
c.4703C>G (p.Ser1568Cys)
c.4823C>G (p.Ser1608Cys)
c.4751C>G (p.Ser1584Cys)
c.1517C>G (p.Ser506Cys)
c.1379C>G (p.Ser460Cys)
c.3941C>G (p.Ser1314Cys)
c.4706C>G (p.Ser1569Cys)
c.4895C>G (p.Ser1632Cys)
c.4688C>G (p.Ser1563Cys)
c.1391C>G (p.Ser464Cys)
c.1436C>G (p.Ser479Cys)
c.4892C>G (p.Ser1631Cys)
c.1216C>G
c.1403C>G (p.Ser468Cys)
c.*4612C>G (n.*4612C>G)
c.1142C>G (p.Ser381Cys)
c.5-7134C>G (n.5-7134C>G)
c.302C>G (p.Ser101Cys)
c.-98-20895C>G (n.-98-20895C>G)
n.4965C>G
n.5006C>G
 dbSNP
17g.43071085G=CA2260772904BRCA1c.4826C= (p.Ser1609=)
c.4829C= (p.Ser1610=)
c.4703C= (p.Ser1568=)
c.4823C= (p.Ser1608=)
c.4751C= (p.Ser1584=)
c.1517C= (p.Ser506=)
c.1379C= (p.Ser460=)
c.3941C= (p.Ser1314=)
c.4706C= (p.Ser1569=)
c.4895C= (p.Ser1632=)
c.4688C= (p.Ser1563=)
c.1391C= (p.Ser464=)
c.1436C= (p.Ser479=)
c.4892C= (p.Ser1631=)
c.1216C=
c.1403C= (p.Ser468=)
c.*4612C= (n.*4612C=)
c.1142C= (p.Ser381=)
c.5-7134C= (n.5-7134C=)
c.302C= (p.Ser101=)
c.-98-20895C= (n.-98-20895C=)
n.4965C=
n.5006C=
17g.43071085G>TCA10591863BRCA1c.4826C>A (p.Ser1609Tyr)
c.4829C>A (p.Ser1610Tyr)
c.4703C>A (p.Ser1568Tyr)
c.4823C>A (p.Ser1608Tyr)
c.4751C>A (p.Ser1584Tyr)
c.1517C>A (p.Ser506Tyr)
c.1379C>A (p.Ser460Tyr)
c.3941C>A (p.Ser1314Tyr)
c.4706C>A (p.Ser1569Tyr)
c.4895C>A (p.Ser1632Tyr)
c.4688C>A (p.Ser1563Tyr)
c.1391C>A (p.Ser464Tyr)
c.1436C>A (p.Ser479Tyr)
c.4892C>A (p.Ser1631Tyr)
c.1216C>A
c.1403C>A (p.Ser468Tyr)
c.*4612C>A (n.*4612C>A)
c.1142C>A (p.Ser381Tyr)
c.5-7134C>A (n.5-7134C>A)
c.302C>A (p.Ser101Tyr)
c.-98-20895C>A (n.-98-20895C>A)
n.4965C>A
n.5006C>A
 dbSNP
17g.43071086A>CCA10591864BRCA1c.4825T>G (p.Ser1609Ala)
c.4828T>G (p.Ser1610Ala)
c.4702T>G (p.Ser1568Ala)
c.4822T>G (p.Ser1608Ala)
c.4750T>G (p.Ser1584Ala)
c.1516T>G (p.Ser506Ala)
c.1378T>G (p.Ser460Ala)
c.3940T>G (p.Ser1314Ala)
c.4705T>G (p.Ser1569Ala)
c.4894T>G (p.Ser1632Ala)
c.4687T>G (p.Ser1563Ala)
c.1390T>G (p.Ser464Ala)
c.1435T>G (p.Ser479Ala)
c.4891T>G (p.Ser1631Ala)
c.1215T>G
c.1402T>G (p.Ser468Ala)
c.*4611T>G (n.*4611T>G)
c.1141T>G (p.Ser381Ala)
c.5-7135T>G (n.5-7135T>G)
c.301T>G (p.Ser101Ala)
c.-98-20896T>G (n.-98-20896T>G)
n.4964T>G
n.5005T>G
17g.43071086A>GCA10591865BRCA1c.4825T>C (p.Ser1609Pro)
c.4828T>C (p.Ser1610Pro)
c.4702T>C (p.Ser1568Pro)
c.4822T>C (p.Ser1608Pro)
c.4750T>C (p.Ser1584Pro)
c.1516T>C (p.Ser506Pro)
c.1378T>C (p.Ser460Pro)
c.3940T>C (p.Ser1314Pro)
c.4705T>C (p.Ser1569Pro)
c.4894T>C (p.Ser1632Pro)
c.4687T>C (p.Ser1563Pro)
c.1390T>C (p.Ser464Pro)
c.1435T>C (p.Ser479Pro)
c.4891T>C (p.Ser1631Pro)
c.1215T>C
c.1402T>C (p.Ser468Pro)
c.*4611T>C (n.*4611T>C)
c.1141T>C (p.Ser381Pro)
c.5-7135T>C (n.5-7135T>C)
c.301T>C (p.Ser101Pro)
c.-98-20896T>C (n.-98-20896T>C)
n.4964T>C
n.5005T>C
 dbSNP
17g.43071086A>TCA10591866BRCA1c.4825T>A (p.Ser1609Thr)
c.4828T>A (p.Ser1610Thr)
c.4702T>A (p.Ser1568Thr)
c.4822T>A (p.Ser1608Thr)
c.4750T>A (p.Ser1584Thr)
c.1516T>A (p.Ser506Thr)
c.1378T>A (p.Ser460Thr)
c.3940T>A (p.Ser1314Thr)
c.4705T>A (p.Ser1569Thr)
c.4894T>A (p.Ser1632Thr)
c.4687T>A (p.Ser1563Thr)
c.1390T>A (p.Ser464Thr)
c.1435T>A (p.Ser479Thr)
c.4891T>A (p.Ser1631Thr)
c.1215T>A
c.1402T>A (p.Ser468Thr)
c.*4611T>A (n.*4611T>A)
c.1141T>A (p.Ser381Thr)
c.5-7135T>A (n.5-7135T>A)
c.301T>A (p.Ser101Thr)
c.-98-20896T>A (n.-98-20896T>A)
n.4964T>A
n.5005T>A
 dbSNP
17g.43071086dupCA658656620BRCA1c.4825dup (p.Ser1609PhefsTer12)
c.4828dup (p.Ser1610PhefsTer12)
c.4702dup (p.Ser1568PhefsTer12)
c.4822dup (p.Ser1608PhefsTer12)
c.4750dup (p.Ser1584PhefsTer12)
c.1516dup (p.Ser506PhefsTer12)
c.1378dup (p.Ser460PhefsTer12)
c.3940dup (p.Ser1314PhefsTer12)
c.4705dup (p.Ser1569PhefsTer12)
c.4894dup (p.Ser1632PhefsTer12)
c.4687dup (p.Ser1563PhefsTer12)
c.1390dup (p.Ser464PhefsTer12)
c.1435dup (p.Ser479PhefsTer12)
c.4891dup (p.Ser1631PhefsTer12)
c.1215dup
c.1402dup (p.Ser468PhefsTer12)
c.*4611dup (n.*4611dup)
c.1141dup (p.Ser381PhefsTer12)
c.5-7135dup (n.5-7135dup)
c.301dup (p.Ser101PhefsTer12)
c.-98-20896dup (n.-98-20896dup)
n.4964dup
n.5005dup
 ClinVar dbSNP
17g.43071087T>ACA10591867BRCA1c.4824A>T (p.Glu1608Asp)
c.4827A>T (p.Glu1609Asp)
c.4701A>T (p.Glu1567Asp)
c.4821A>T (p.Glu1607Asp)
c.4749A>T (p.Glu1583Asp)
c.1515A>T (p.Glu505Asp)
c.1377A>T (p.Glu459Asp)
c.3939A>T (p.Glu1313Asp)
c.4704A>T (p.Glu1568Asp)
c.4893A>T (p.Glu1631Asp)
c.4686A>T (p.Glu1562Asp)
c.1389A>T (p.Glu463Asp)
c.1434A>T (p.Glu478Asp)
c.4890A>T (p.Glu1630Asp)
c.1214A>T
c.1401A>T (p.Glu467Asp)
c.*4610A>T (n.*4610A>T)
c.1140A>T (p.Glu380Asp)
c.5-7136A>T (n.5-7136A>T)
c.300A>T (p.Glu100Asp)
c.-98-20897A>T (n.-98-20897A>T)
n.4963A>T
n.5004A>T
 dbSNP
17g.43071087T>CCA500231814BRCA1c.4824A>G (p.Glu1608=)
c.4827A>G (p.Glu1609=)
c.4701A>G (p.Glu1567=)
c.4821A>G (p.Glu1607=)
c.4749A>G (p.Glu1583=)
c.1515A>G (p.Glu505=)
c.1377A>G (p.Glu459=)
c.3939A>G (p.Glu1313=)
c.4704A>G (p.Glu1568=)
c.4893A>G (p.Glu1631=)
c.4686A>G (p.Glu1562=)
c.1389A>G (p.Glu463=)
c.1434A>G (p.Glu478=)
c.4890A>G (p.Glu1630=)
c.1214A>G
c.1401A>G (p.Glu467=)
c.*4610A>G (n.*4610A>G)
c.1140A>G (p.Glu380=)
c.5-7136A>G (n.5-7136A>G)
c.300A>G (p.Glu100=)
c.-98-20897A>G (n.-98-20897A>G)
n.4963A>G
n.5004A>G
 dbSNP
17g.43071087T>GCA10591868BRCA1c.4824A>C (p.Glu1608Asp)
c.4827A>C (p.Glu1609Asp)
c.4701A>C (p.Glu1567Asp)
c.4821A>C (p.Glu1607Asp)
c.4749A>C (p.Glu1583Asp)
c.1515A>C (p.Glu505Asp)
c.1377A>C (p.Glu459Asp)
c.3939A>C (p.Glu1313Asp)
c.4704A>C (p.Glu1568Asp)
c.4893A>C (p.Glu1631Asp)
c.4686A>C (p.Glu1562Asp)
c.1389A>C (p.Glu463Asp)
c.1434A>C (p.Glu478Asp)
c.4890A>C (p.Glu1630Asp)
c.1214A>C
c.1401A>C (p.Glu467Asp)
c.*4610A>C (n.*4610A>C)
c.1140A>C (p.Glu380Asp)
c.5-7136A>C (n.5-7136A>C)
c.300A>C (p.Glu100Asp)
c.-98-20897A>C (n.-98-20897A>C)
n.4963A>C
n.5004A>C
17g.43071088T>ACA10591869BRCA1c.4823A>T (p.Glu1608Val)
c.4826A>T (p.Glu1609Val)
c.4700A>T (p.Glu1567Val)
c.4820A>T (p.Glu1607Val)
c.4748A>T (p.Glu1583Val)
c.1514A>T (p.Glu505Val)
c.1376A>T (p.Glu459Val)
c.3938A>T (p.Glu1313Val)
c.4703A>T (p.Glu1568Val)
c.4892A>T (p.Glu1631Val)
c.4685A>T (p.Glu1562Val)
c.1388A>T (p.Glu463Val)
c.1433A>T (p.Glu478Val)
c.4889A>T (p.Glu1630Val)
c.1213A>T
c.1400A>T (p.Glu467Val)
c.*4609A>T (n.*4609A>T)
c.1139A>T (p.Glu380Val)
c.5-7137A>T (n.5-7137A>T)
c.299A>T (p.Glu100Val)
c.-98-20898A>T (n.-98-20898A>T)
n.4962A>T
n.5003A>T
 dbSNP
17g.43071088T>CCA003039BRCA1c.4823A>G (p.Glu1608Gly)
c.4826A>G (p.Glu1609Gly)
c.4700A>G (p.Glu1567Gly)
c.4820A>G (p.Glu1607Gly)
c.4748A>G (p.Glu1583Gly)
c.1514A>G (p.Glu505Gly)
c.1376A>G (p.Glu459Gly)
c.3938A>G (p.Glu1313Gly)
c.4703A>G (p.Glu1568Gly)
c.4892A>G (p.Glu1631Gly)
c.4685A>G (p.Glu1562Gly)
c.1388A>G (p.Glu463Gly)
c.1433A>G (p.Glu478Gly)
c.4889A>G (p.Glu1630Gly)
c.1213A>G
c.1400A>G (p.Glu467Gly)
c.*4609A>G (n.*4609A>G)
c.1139A>G (p.Glu380Gly)
c.5-7137A>G (n.5-7137A>G)
c.299A>G (p.Glu100Gly)
c.-98-20898A>G (n.-98-20898A>G)
n.4962A>G
n.5003A>G
 ClinVar dbSNP
17g.43071088T>GCA10591870BRCA1c.4823A>C (p.Glu1608Ala)
c.4826A>C (p.Glu1609Ala)
c.4700A>C (p.Glu1567Ala)
c.4820A>C (p.Glu1607Ala)
c.4748A>C (p.Glu1583Ala)
c.1514A>C (p.Glu505Ala)
c.1376A>C (p.Glu459Ala)
c.3938A>C (p.Glu1313Ala)
c.4703A>C (p.Glu1568Ala)
c.4892A>C (p.Glu1631Ala)
c.4685A>C (p.Glu1562Ala)
c.1388A>C (p.Glu463Ala)
c.1433A>C (p.Glu478Ala)
c.4889A>C (p.Glu1630Ala)
c.1213A>C
c.1400A>C (p.Glu467Ala)
c.*4609A>C (n.*4609A>C)
c.1139A>C (p.Glu380Ala)
c.5-7137A>C (n.5-7137A>C)
c.299A>C (p.Glu100Ala)
c.-98-20898A>C (n.-98-20898A>C)
n.4962A>C
n.5003A>C
17g.43071088T=CA2260772905BRCA1c.4823A= (p.Glu1608=)
c.4826A= (p.Glu1609=)
c.4700A= (p.Glu1567=)
c.4820A= (p.Glu1607=)
c.4748A= (p.Glu1583=)
c.1514A= (p.Glu505=)
c.1376A= (p.Glu459=)
c.3938A= (p.Glu1313=)
c.4703A= (p.Glu1568=)
c.4892A= (p.Glu1631=)
c.4685A= (p.Glu1562=)
c.1388A= (p.Glu463=)
c.1433A= (p.Glu478=)
c.4889A= (p.Glu1630=)
c.1213A=
c.1400A= (p.Glu467=)
c.*4609A= (n.*4609A=)
c.1139A= (p.Glu380=)
c.5-7137A= (n.5-7137A=)
c.299A= (p.Glu100=)
c.-98-20898A= (n.-98-20898A=)
n.4962A=
n.5003A=
17g.43071089C>ACA10591871BRCA1c.4822G>T (p.Glu1608Ter)
c.4825G>T (p.Glu1609Ter)
c.4699G>T (p.Glu1567Ter)
c.4819G>T (p.Glu1607Ter)
c.4747G>T (p.Glu1583Ter)
c.1513G>T (p.Glu505Ter)
c.1375G>T (p.Glu459Ter)
c.3937G>T (p.Glu1313Ter)
c.4702G>T (p.Glu1568Ter)
c.4891G>T (p.Glu1631Ter)
c.4684G>T (p.Glu1562Ter)
c.1387G>T (p.Glu463Ter)
c.1432G>T (p.Glu478Ter)
c.4888G>T (p.Glu1630Ter)
c.1212G>T
c.1399G>T (p.Glu467Ter)
c.*4608G>T (n.*4608G>T)
c.1138G>T (p.Glu380Ter)
c.5-7138G>T (n.5-7138G>T)
c.298G>T (p.Glu100Ter)
c.-98-20899G>T (n.-98-20899G>T)
n.4961G>T
n.5002G>T
 ClinVar dbSNP COSMIC
17g.43071089C>GCA10591872BRCA1c.4822G>C (p.Glu1608Gln)
c.4825G>C (p.Glu1609Gln)
c.4699G>C (p.Glu1567Gln)
c.4819G>C (p.Glu1607Gln)
c.4747G>C (p.Glu1583Gln)
c.1513G>C (p.Glu505Gln)
c.1375G>C (p.Glu459Gln)
c.3937G>C (p.Glu1313Gln)
c.4702G>C (p.Glu1568Gln)
c.4891G>C (p.Glu1631Gln)
c.4684G>C (p.Glu1562Gln)
c.1387G>C (p.Glu463Gln)
c.1432G>C (p.Glu478Gln)
c.4888G>C (p.Glu1630Gln)
c.1212G>C
c.1399G>C (p.Glu467Gln)
c.*4608G>C (n.*4608G>C)
c.1138G>C (p.Glu380Gln)
c.5-7138G>C (n.5-7138G>C)
c.298G>C (p.Glu100Gln)
c.-98-20899G>C (n.-98-20899G>C)
n.4961G>C
n.5002G>C
 dbSNP
17g.43071089C>TCA10591873BRCA1c.4822G>A (p.Glu1608Lys)
c.4825G>A (p.Glu1609Lys)
c.4699G>A (p.Glu1567Lys)
c.4819G>A (p.Glu1607Lys)
c.4747G>A (p.Glu1583Lys)
c.1513G>A (p.Glu505Lys)
c.1375G>A (p.Glu459Lys)
c.3937G>A (p.Glu1313Lys)
c.4702G>A (p.Glu1568Lys)
c.4891G>A (p.Glu1631Lys)
c.4684G>A (p.Glu1562Lys)
c.1387G>A (p.Glu463Lys)
c.1432G>A (p.Glu478Lys)
c.4888G>A (p.Glu1630Lys)
c.1212G>A
c.1399G>A (p.Glu467Lys)
c.*4608G>A (n.*4608G>A)
c.1138G>A (p.Glu380Lys)
c.5-7138G>A (n.5-7138G>A)
c.298G>A (p.Glu100Lys)
c.-98-20899G>A (n.-98-20899G>A)
n.4961G>A
n.5002G>A
 dbSNP
17g.43071090T>ACA500231815BRCA1c.4821A>T (p.Ala1607=)
c.4824A>T (p.Ala1608=)
c.4698A>T (p.Ala1566=)
c.4818A>T (p.Ala1606=)
c.4746A>T (p.Ala1582=)
c.1512A>T (p.Ala504=)
c.1374A>T (p.Ala458=)
c.3936A>T (p.Ala1312=)
c.4701A>T (p.Ala1567=)
c.4890A>T (p.Ala1630=)
c.4683A>T (p.Ala1561=)
c.1386A>T (p.Ala462=)
c.1431A>T (p.Ala477=)
c.4887A>T (p.Ala1629=)
c.1211A>T
c.1398A>T (p.Ala466=)
c.*4607A>T (n.*4607A>T)
c.1137A>T (p.Ala379=)
c.5-7139A>T (n.5-7139A>T)
c.297A>T (p.Ala99=)
c.-98-20900A>T (n.-98-20900A>T)
n.4960A>T
n.5001A>T
 dbSNP
17g.43071090T>CCA500231816BRCA1c.4821A>G (p.Ala1607=)
c.4824A>G (p.Ala1608=)
c.4698A>G (p.Ala1566=)
c.4818A>G (p.Ala1606=)
c.4746A>G (p.Ala1582=)
c.1512A>G (p.Ala504=)
c.1374A>G (p.Ala458=)
c.3936A>G (p.Ala1312=)
c.4701A>G (p.Ala1567=)
c.4890A>G (p.Ala1630=)
c.4683A>G (p.Ala1561=)
c.1386A>G (p.Ala462=)
c.1431A>G (p.Ala477=)
c.4887A>G (p.Ala1629=)
c.1211A>G
c.1398A>G (p.Ala466=)
c.*4607A>G (n.*4607A>G)
c.1137A>G (p.Ala379=)
c.5-7139A>G (n.5-7139A>G)
c.297A>G (p.Ala99=)
c.-98-20900A>G (n.-98-20900A>G)
n.4960A>G
n.5001A>G
 ClinVar dbSNP gnomAD v4
17g.43071090T>GCA500231817BRCA1c.4821A>C (p.Ala1607=)
c.4824A>C (p.Ala1608=)
c.4698A>C (p.Ala1566=)
c.4818A>C (p.Ala1606=)
c.4746A>C (p.Ala1582=)
c.1512A>C (p.Ala504=)
c.1374A>C (p.Ala458=)
c.3936A>C (p.Ala1312=)
c.4701A>C (p.Ala1567=)
c.4890A>C (p.Ala1630=)
c.4683A>C (p.Ala1561=)
c.1386A>C (p.Ala462=)
c.1431A>C (p.Ala477=)
c.4887A>C (p.Ala1629=)
c.1211A>C
c.1398A>C (p.Ala466=)
c.*4607A>C (n.*4607A>C)
c.1137A>C (p.Ala379=)
c.5-7139A>C (n.5-7139A>C)
c.297A>C (p.Ala99=)
c.-98-20900A>C (n.-98-20900A>C)
n.4960A>C
n.5001A>C
17g.43071090T=CA2260772906BRCA1c.4821A= (p.Ala1607=)
c.4824A= (p.Ala1608=)
c.4698A= (p.Ala1566=)
c.4818A= (p.Ala1606=)
c.4746A= (p.Ala1582=)
c.1512A= (p.Ala504=)
c.1374A= (p.Ala458=)
c.3936A= (p.Ala1312=)
c.4701A= (p.Ala1567=)
c.4890A= (p.Ala1630=)
c.4683A= (p.Ala1561=)
c.1386A= (p.Ala462=)
c.1431A= (p.Ala477=)
c.4887A= (p.Ala1629=)
c.1211A=
c.1398A= (p.Ala466=)
c.*4607A= (n.*4607A=)
c.1137A= (p.Ala379=)
c.5-7139A= (n.5-7139A=)
c.297A= (p.Ala99=)
c.-98-20900A= (n.-98-20900A=)
n.4960A=
n.5001A=
17g.43071090_43071104delCA2638062539BRCA1c.4807_4821del (p.Gln1603_Ala1607del)
c.4810_4824del (p.Gln1604_Ala1608del)
c.4684_4698del (p.Gln1562_Ala1566del)
c.4804_4818del (p.Gln1602_Ala1606del)
c.4732_4746del (p.Gln1578_Ala1582del)
c.1498_1512del (p.Gln500_Ala504del)
c.1360_1374del (p.Gln454_Ala458del)
c.3922_3936del (p.Gln1308_Ala1312del)
c.4687_4701del (p.Gln1563_Ala1567del)
c.4876_4890del (p.Gln1626_Ala1630del)
c.4669_4683del (p.Gln1557_Ala1561del)
c.1372_1386del (p.Gln458_Ala462del)
c.1417_1431del (p.Gln473_Ala477del)
c.4873_4887del (p.Gln1625_Ala1629del)
c.1197_1211del
c.1384_1398del (p.Gln462_Ala466del)
c.*4593_*4607del (n.*4593_*4607del)
c.1123_1137del (p.Gln375_Ala379del)
c.5-7153_5-7139del (n.5-7153_5-7139del)
c.283_297del (p.Gln95_Ala99del)
c.-98-20914_-98-20900del (n.-98-20914_-98-20900del)
n.4946_4960del
n.4987_5001del
 gnomAD v4
17g.43071090_43071091insCCA658825006BRCA1c.4820_4821insG (p.Glu1608ArgfsTer13)
c.4823_4824insG (p.Glu1609ArgfsTer13)
c.4697_4698insG (p.Glu1567ArgfsTer13)
c.4817_4818insG (p.Glu1607ArgfsTer13)
c.4745_4746insG (p.Glu1583ArgfsTer13)
c.1511_1512insG (p.Glu505ArgfsTer13)
c.1373_1374insG (p.Glu459ArgfsTer13)
c.3935_3936insG (p.Glu1313ArgfsTer13)
c.4700_4701insG (p.Glu1568ArgfsTer13)
c.4889_4890insG (p.Glu1631ArgfsTer13)
c.4682_4683insG (p.Glu1562ArgfsTer13)
c.1385_1386insG (p.Glu463ArgfsTer13)
c.1430_1431insG (p.Glu478ArgfsTer13)
c.4886_4887insG (p.Glu1630ArgfsTer13)
c.1210_1211insG
c.1397_1398insG (p.Glu467ArgfsTer13)
c.*4606_*4607insG (n.*4606_*4607insG)
c.1136_1137insG (p.Glu380ArgfsTer13)
c.5-7140_5-7139insG (n.5-7140_5-7139insG)
c.296_297insG (p.Glu100ArgfsTer13)
c.-98-20901_-98-20900insG (n.-98-20901_-98-20900insG)
n.4959_4960insG
n.5000_5001insG
 ClinVar dbSNP
17g.43071091G>ACA003038BRCA1c.4820C>T (p.Ala1607Val)
c.4823C>T (p.Ala1608Val)
c.4697C>T (p.Ala1566Val)
c.4817C>T (p.Ala1606Val)
c.4745C>T (p.Ala1582Val)
c.1511C>T (p.Ala504Val)
c.1373C>T (p.Ala458Val)
c.3935C>T (p.Ala1312Val)
c.4700C>T (p.Ala1567Val)
c.4889C>T (p.Ala1630Val)
c.4682C>T (p.Ala1561Val)
c.1385C>T (p.Ala462Val)
c.1430C>T (p.Ala477Val)
c.4886C>T (p.Ala1629Val)
c.1210C>T
c.1397C>T (p.Ala466Val)
c.*4606C>T (n.*4606C>T)
c.1136C>T (p.Ala379Val)
c.5-7140C>T (n.5-7140C>T)
c.296C>T (p.Ala99Val)
c.-98-20901C>T (n.-98-20901C>T)
n.4959C>T
n.5000C>T
 ClinVar dbSNP
17g.43071091G>CCA10591874BRCA1c.4820C>G (p.Ala1607Gly)
c.4823C>G (p.Ala1608Gly)
c.4697C>G (p.Ala1566Gly)
c.4817C>G (p.Ala1606Gly)
c.4745C>G (p.Ala1582Gly)
c.1511C>G (p.Ala504Gly)
c.1373C>G (p.Ala458Gly)
c.3935C>G (p.Ala1312Gly)
c.4700C>G (p.Ala1567Gly)
c.4889C>G (p.Ala1630Gly)
c.4682C>G (p.Ala1561Gly)
c.1385C>G (p.Ala462Gly)
c.1430C>G (p.Ala477Gly)
c.4886C>G (p.Ala1629Gly)
c.1210C>G
c.1397C>G (p.Ala466Gly)
c.*4606C>G (n.*4606C>G)
c.1136C>G (p.Ala379Gly)
c.5-7140C>G (n.5-7140C>G)
c.296C>G (p.Ala99Gly)
c.-98-20901C>G (n.-98-20901C>G)
n.4959C>G
n.5000C>G
 dbSNP
17g.43071091G=CA2260772907BRCA1c.4820C= (p.Ala1607=)
c.4823C= (p.Ala1608=)
c.4697C= (p.Ala1566=)
c.4817C= (p.Ala1606=)
c.4745C= (p.Ala1582=)
c.1511C= (p.Ala504=)
c.1373C= (p.Ala458=)
c.3935C= (p.Ala1312=)
c.4700C= (p.Ala1567=)
c.4889C= (p.Ala1630=)
c.4682C= (p.Ala1561=)
c.1385C= (p.Ala462=)
c.1430C= (p.Ala477=)
c.4886C= (p.Ala1629=)
c.1210C=
c.1397C= (p.Ala466=)
c.*4606C= (n.*4606C=)
c.1136C= (p.Ala379=)
c.5-7140C= (n.5-7140C=)
c.296C= (p.Ala99=)
c.-98-20901C= (n.-98-20901C=)
n.4959C=
n.5000C=
17g.43071091G>TCA10591875BRCA1c.4820C>A (p.Ala1607Glu)
c.4823C>A (p.Ala1608Glu)
c.4697C>A (p.Ala1566Glu)
c.4817C>A (p.Ala1606Glu)
c.4745C>A (p.Ala1582Glu)
c.1511C>A (p.Ala504Glu)
c.1373C>A (p.Ala458Glu)
c.3935C>A (p.Ala1312Glu)
c.4700C>A (p.Ala1567Glu)
c.4889C>A (p.Ala1630Glu)
c.4682C>A (p.Ala1561Glu)
c.1385C>A (p.Ala462Glu)
c.1430C>A (p.Ala477Glu)
c.4886C>A (p.Ala1629Glu)
c.1210C>A
c.1397C>A (p.Ala466Glu)
c.*4606C>A (n.*4606C>A)
c.1136C>A (p.Ala379Glu)
c.5-7140C>A (n.5-7140C>A)
c.296C>A (p.Ala99Glu)
c.-98-20901C>A (n.-98-20901C>A)
n.4959C>A
n.5000C>A
 dbSNP gnomAD v4
17g.43071092C>ACA10591876BRCA1c.4819G>T (p.Ala1607Ser)
c.4822G>T (p.Ala1608Ser)
c.4696G>T (p.Ala1566Ser)
c.4816G>T (p.Ala1606Ser)
c.4744G>T (p.Ala1582Ser)
c.1510G>T (p.Ala504Ser)
c.1372G>T (p.Ala458Ser)
c.3934G>T (p.Ala1312Ser)
c.4699G>T (p.Ala1567Ser)
c.4888G>T (p.Ala1630Ser)
c.4681G>T (p.Ala1561Ser)
c.1384G>T (p.Ala462Ser)
c.1429G>T (p.Ala477Ser)
c.4885G>T (p.Ala1629Ser)
c.1209G>T
c.1396G>T (p.Ala466Ser)
c.*4605G>T (n.*4605G>T)
c.1135G>T (p.Ala379Ser)
c.5-7141G>T (n.5-7141G>T)
c.295G>T (p.Ala99Ser)
c.-98-20902G>T (n.-98-20902G>T)
n.4958G>T
n.4999G>T
17g.43071092C=CA2260772909BRCA1c.4819G= (p.Ala1607=)
c.4822G= (p.Ala1608=)
c.4696G= (p.Ala1566=)
c.4816G= (p.Ala1606=)
c.4744G= (p.Ala1582=)
c.1510G= (p.Ala504=)
c.1372G= (p.Ala458=)
c.3934G= (p.Ala1312=)
c.4699G= (p.Ala1567=)
c.4888G= (p.Ala1630=)
c.4681G= (p.Ala1561=)
c.1384G= (p.Ala462=)
c.1429G= (p.Ala477=)
c.4885G= (p.Ala1629=)
c.1209G=
c.1396G= (p.Ala466=)
c.*4605G= (n.*4605G=)
c.1135G= (p.Ala379=)
c.5-7141G= (n.5-7141G=)
c.295G= (p.Ala99=)
c.-98-20902G= (n.-98-20902G=)
n.4958G=
n.4999G=
17g.43071092C>GCA10591877BRCA1c.4819G>C (p.Ala1607Pro)
c.4822G>C (p.Ala1608Pro)
c.4696G>C (p.Ala1566Pro)
c.4816G>C (p.Ala1606Pro)
c.4744G>C (p.Ala1582Pro)
c.1510G>C (p.Ala504Pro)
c.1372G>C (p.Ala458Pro)
c.3934G>C (p.Ala1312Pro)
c.4699G>C (p.Ala1567Pro)
c.4888G>C (p.Ala1630Pro)
c.4681G>C (p.Ala1561Pro)
c.1384G>C (p.Ala462Pro)
c.1429G>C (p.Ala477Pro)
c.4885G>C (p.Ala1629Pro)
c.1209G>C
c.1396G>C (p.Ala466Pro)
c.*4605G>C (n.*4605G>C)
c.1135G>C (p.Ala379Pro)
c.5-7141G>C (n.5-7141G>C)
c.295G>C (p.Ala99Pro)
c.-98-20902G>C (n.-98-20902G>C)
n.4958G>C
n.4999G>C
17g.43071092C>TCA10591878BRCA1c.4819G>A (p.Ala1607Thr)
c.4822G>A (p.Ala1608Thr)
c.4696G>A (p.Ala1566Thr)
c.4816G>A (p.Ala1606Thr)
c.4744G>A (p.Ala1582Thr)
c.1510G>A (p.Ala504Thr)
c.1372G>A (p.Ala458Thr)
c.3934G>A (p.Ala1312Thr)
c.4699G>A (p.Ala1567Thr)
c.4888G>A (p.Ala1630Thr)
c.4681G>A (p.Ala1561Thr)
c.1384G>A (p.Ala462Thr)
c.1429G>A (p.Ala477Thr)
c.4885G>A (p.Ala1629Thr)
c.1209G>A
c.1396G>A (p.Ala466Thr)
c.*4605G>A (n.*4605G>A)
c.1135G>A (p.Ala379Thr)
c.5-7141G>A (n.5-7141G>A)
c.295G>A (p.Ala99Thr)
c.-98-20902G>A (n.-98-20902G>A)
n.4958G>A
n.4999G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43071092dupCA645373143BRCA1c.4819dup (p.Ala1607GlyfsTer14)
c.4822dup (p.Ala1608GlyfsTer14)
c.4696dup (p.Ala1566GlyfsTer14)
c.4816dup (p.Ala1606GlyfsTer14)
c.4744dup (p.Ala1582GlyfsTer14)
c.1510dup (p.Ala504GlyfsTer14)
c.1372dup (p.Ala458GlyfsTer14)
c.3934dup (p.Ala1312GlyfsTer14)
c.4699dup (p.Ala1567GlyfsTer14)
c.4888dup (p.Ala1630GlyfsTer14)
c.4681dup (p.Ala1561GlyfsTer14)
c.1384dup (p.Ala462GlyfsTer14)
c.1429dup (p.Ala477GlyfsTer14)
c.4885dup (p.Ala1629GlyfsTer14)
c.1209dup
c.1396dup (p.Ala466GlyfsTer14)
c.*4605dup (n.*4605dup)
c.1135dup (p.Ala379GlyfsTer14)
c.5-7141dup (n.5-7141dup)
c.295dup (p.Ala99GlyfsTer14)
c.-98-20902dup (n.-98-20902dup)
n.4958dup
n.4999dup
 ClinVar dbSNP
17g.43071092_43071107delinsCAACTTTCAATTGGGGCA2260772908BRCA1c.4804_4819delinsCCCCAATTGAAAGTTG (p.Pro1602=)
c.4807_4822delinsCCCCAATTGAAAGTTG (p.Pro1603=)
c.4681_4696delinsCCCCAATTGAAAGTTG (p.Pro1561=)
c.4801_4816delinsCCCCAATTGAAAGTTG (p.Pro1601=)
c.4729_4744delinsCCCCAATTGAAAGTTG (p.Pro1577=)
c.1495_1510delinsCCCCAATTGAAAGTTG (p.Pro499=)
c.1357_1372delinsCCCCAATTGAAAGTTG (p.Pro453=)
c.3919_3934delinsCCCCAATTGAAAGTTG (p.Pro1307=)
c.4684_4699delinsCCCCAATTGAAAGTTG (p.Pro1562=)
c.4873_4888delinsCCCCAATTGAAAGTTG (p.Pro1625=)
c.4666_4681delinsCCCCAATTGAAAGTTG (p.Pro1556=)
c.1369_1384delinsCCCCAATTGAAAGTTG (p.Pro457=)
c.1414_1429delinsCCCCAATTGAAAGTTG (p.Pro472=)
c.4870_4885delinsCCCCAATTGAAAGTTG (p.Pro1624=)
c.1194_1209delinsCCCCAATTGAAAGTTG
c.1381_1396delinsCCCCAATTGAAAGTTG (p.Pro461=)
c.*4590_*4605delinsCCCCAATTGAAAGTTG (n.*4590_*4605delinsCCCCAATTGAAAGTTG)
c.1120_1135delinsCCCCAATTGAAAGTTG (p.Pro374=)
c.5-7156_5-7141delinsCCCCAATTGAAAGTTG (n.5-7156_5-7141delinsCCCCAATTGAAAGTTG)
c.280_295delinsCCCCAATTGAAAGTTG (p.Pro94=)
c.-98-20917_-98-20902delinsCCCCAATTGAAAGTTG (n.-98-20917_-98-20902delinsCCCCAATTGAAAGTTG)
n.4943_4958delinsCCCCAATTGAAAGTTG
n.4984_4999delinsCCCCAATTGAAAGTTG
17g.43071093A=CA2260772910BRCA1c.4818T= (p.Val1606=)
c.4821T= (p.Val1607=)
c.4695T= (p.Val1565=)
c.4815T= (p.Val1605=)
c.4743T= (p.Val1581=)
c.1509T= (p.Val503=)
c.1371T= (p.Val457=)
c.3933T= (p.Val1311=)
c.4698T= (p.Val1566=)
c.4887T= (p.Val1629=)
c.4680T= (p.Val1560=)
c.1383T= (p.Val461=)
c.1428T= (p.Val476=)
c.4884T= (p.Val1628=)
c.1208T=
c.1395T= (p.Val465=)
c.*4604T= (n.*4604T=)
c.1134T= (p.Val378=)
c.5-7142T= (n.5-7142T=)
c.294T= (p.Val98=)
c.-98-20903T= (n.-98-20903T=)
n.4957T=
n.4998T=
17g.43071093A>CCA500231818BRCA1c.4818T>G (p.Val1606=)
c.4821T>G (p.Val1607=)
c.4695T>G (p.Val1565=)
c.4815T>G (p.Val1605=)
c.4743T>G (p.Val1581=)
c.1509T>G (p.Val503=)
c.1371T>G (p.Val457=)
c.3933T>G (p.Val1311=)
c.4698T>G (p.Val1566=)
c.4887T>G (p.Val1629=)
c.4680T>G (p.Val1560=)
c.1383T>G (p.Val461=)
c.1428T>G (p.Val476=)
c.4884T>G (p.Val1628=)
c.1208T>G
c.1395T>G (p.Val465=)
c.*4604T>G (n.*4604T>G)
c.1134T>G (p.Val378=)
c.5-7142T>G (n.5-7142T>G)
c.294T>G (p.Val98=)
c.-98-20903T>G (n.-98-20903T>G)
n.4957T>G
n.4998T>G
17g.43071093A>GCA500231820BRCA1c.4818T>C (p.Val1606=)
c.4821T>C (p.Val1607=)
c.4695T>C (p.Val1565=)
c.4815T>C (p.Val1605=)
c.4743T>C (p.Val1581=)
c.1509T>C (p.Val503=)
c.1371T>C (p.Val457=)
c.3933T>C (p.Val1311=)
c.4698T>C (p.Val1566=)
c.4887T>C (p.Val1629=)
c.4680T>C (p.Val1560=)
c.1383T>C (p.Val461=)
c.1428T>C (p.Val476=)
c.4884T>C (p.Val1628=)
c.1208T>C
c.1395T>C (p.Val465=)
c.*4604T>C (n.*4604T>C)
c.1134T>C (p.Val378=)
c.5-7142T>C (n.5-7142T>C)
c.294T>C (p.Val98=)
c.-98-20903T>C (n.-98-20903T>C)
n.4957T>C
n.4998T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071093A>TCA500231819BRCA1c.4818T>A (p.Val1606=)
c.4821T>A (p.Val1607=)
c.4695T>A (p.Val1565=)
c.4815T>A (p.Val1605=)
c.4743T>A (p.Val1581=)
c.1509T>A (p.Val503=)
c.1371T>A (p.Val457=)
c.3933T>A (p.Val1311=)
c.4698T>A (p.Val1566=)
c.4887T>A (p.Val1629=)
c.4680T>A (p.Val1560=)
c.1383T>A (p.Val461=)
c.1428T>A (p.Val476=)
c.4884T>A (p.Val1628=)
c.1208T>A
c.1395T>A (p.Val465=)
c.*4604T>A (n.*4604T>A)
c.1134T>A (p.Val378=)
c.5-7142T>A (n.5-7142T>A)
c.294T>A (p.Val98=)
c.-98-20903T>A (n.-98-20903T>A)
n.4957T>A
n.4998T>A
 dbSNP
17g.43071094delCA2499224395BRCA1c.4818del (p.Ala1607GlnfsTer25)
c.4821del (p.Ala1608GlnfsTer25)
c.4695del (p.Ala1566GlnfsTer25)
c.4815del (p.Ala1606GlnfsTer25)
c.4743del (p.Ala1582GlnfsTer25)
c.1509del (p.Ala504GlnfsTer25)
c.1371del (p.Ala458GlnfsTer25)
c.3933del (p.Ala1312GlnfsTer25)
c.4698del (p.Ala1567GlnfsTer25)
c.4887del (p.Ala1630GlnfsTer25)
c.4680del (p.Ala1561GlnfsTer25)
c.1383del (p.Ala462GlnfsTer25)
c.1428del (p.Ala477GlnfsTer25)
c.4884del (p.Ala1629GlnfsTer25)
c.1208del
c.1395del (p.Ala466GlnfsTer25)
c.*4604del (n.*4604del)
c.1134del (p.Ala379GlnfsTer25)
c.5-7142del (n.5-7142del)
c.294del (p.Ala99GlnfsTer25)
c.-98-20903del (n.-98-20903del)
n.4957del
n.4998del
 ClinVar dbSNP
17g.43071103_43071117delCA003026BRCA1c.4804_4818del (p.Pro1602_Val1606del)
c.4807_4821del (p.Pro1603_Val1607del)
c.4681_4695del (p.Pro1561_Val1565del)
c.4801_4815del (p.Pro1601_Val1605del)
c.4729_4743del (p.Pro1577_Val1581del)
c.1495_1509del (p.Pro499_Val503del)
c.1357_1371del (p.Pro453_Val457del)
c.3919_3933del (p.Pro1307_Val1311del)
c.4684_4698del (p.Pro1562_Val1566del)
c.4873_4887del (p.Pro1625_Val1629del)
c.4666_4680del (p.Pro1556_Val1560del)
c.1369_1383del (p.Pro457_Val461del)
c.1414_1428del (p.Pro472_Val476del)
c.4870_4884del (p.Pro1624_Val1628del)
c.1194_1208del
c.1381_1395del (p.Pro461_Val465del)
c.*4590_*4604del (n.*4590_*4604del)
c.1120_1134del (p.Pro374_Val378del)
c.5-7156_5-7142del (n.5-7156_5-7142del)
c.280_294del (p.Pro94_Val98del)
c.-98-20917_-98-20903del (n.-98-20917_-98-20903del)
n.4943_4957del
n.4984_4998del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071094A=CA2260772911BRCA1c.4817T= (p.Val1606=)
c.4820T= (p.Val1607=)
c.4694T= (p.Val1565=)
c.4814T= (p.Val1605=)
c.4742T= (p.Val1581=)
c.1508T= (p.Val503=)
c.1370T= (p.Val457=)
c.3932T= (p.Val1311=)
c.4697T= (p.Val1566=)
c.4886T= (p.Val1629=)
c.4679T= (p.Val1560=)
c.1382T= (p.Val461=)
c.1427T= (p.Val476=)
c.4883T= (p.Val1628=)
c.1207T=
c.1394T= (p.Val465=)
c.*4603T= (n.*4603T=)
c.1133T= (p.Val378=)
c.5-7143T= (n.5-7143T=)
c.293T= (p.Val98=)
c.-98-20904T= (n.-98-20904T=)
n.4956T=
n.4997T=
17g.43071094A>CCA10591879BRCA1c.4817T>G (p.Val1606Gly)
c.4820T>G (p.Val1607Gly)
c.4694T>G (p.Val1565Gly)
c.4814T>G (p.Val1605Gly)
c.4742T>G (p.Val1581Gly)
c.1508T>G (p.Val503Gly)
c.1370T>G (p.Val457Gly)
c.3932T>G (p.Val1311Gly)
c.4697T>G (p.Val1566Gly)
c.4886T>G (p.Val1629Gly)
c.4679T>G (p.Val1560Gly)
c.1382T>G (p.Val461Gly)
c.1427T>G (p.Val476Gly)
c.4883T>G (p.Val1628Gly)
c.1207T>G
c.1394T>G (p.Val465Gly)
c.*4603T>G (n.*4603T>G)
c.1133T>G (p.Val378Gly)
c.5-7143T>G (n.5-7143T>G)
c.293T>G (p.Val98Gly)
c.-98-20904T>G (n.-98-20904T>G)
n.4956T>G
n.4997T>G
 dbSNP
17g.43071094A>GCA10590061BRCA1c.4817T>C (p.Val1606Ala)
c.4820T>C (p.Val1607Ala)
c.4694T>C (p.Val1565Ala)
c.4814T>C (p.Val1605Ala)
c.4742T>C (p.Val1581Ala)
c.1508T>C (p.Val503Ala)
c.1370T>C (p.Val457Ala)
c.3932T>C (p.Val1311Ala)
c.4697T>C (p.Val1566Ala)
c.4886T>C (p.Val1629Ala)
c.4679T>C (p.Val1560Ala)
c.1382T>C (p.Val461Ala)
c.1427T>C (p.Val476Ala)
c.4883T>C (p.Val1628Ala)
c.1207T>C
c.1394T>C (p.Val465Ala)
c.*4603T>C (n.*4603T>C)
c.1133T>C (p.Val378Ala)
c.5-7143T>C (n.5-7143T>C)
c.293T>C (p.Val98Ala)
c.-98-20904T>C (n.-98-20904T>C)
n.4956T>C
n.4997T>C
 dbSNP
17g.43071094A>TCA10591880BRCA1c.4817T>A (p.Val1606Asp)
c.4820T>A (p.Val1607Asp)
c.4694T>A (p.Val1565Asp)
c.4814T>A (p.Val1605Asp)
c.4742T>A (p.Val1581Asp)
c.1508T>A (p.Val503Asp)
c.1370T>A (p.Val457Asp)
c.3932T>A (p.Val1311Asp)
c.4697T>A (p.Val1566Asp)
c.4886T>A (p.Val1629Asp)
c.4679T>A (p.Val1560Asp)
c.1382T>A (p.Val461Asp)
c.1427T>A (p.Val476Asp)
c.4883T>A (p.Val1628Asp)
c.1207T>A
c.1394T>A (p.Val465Asp)
c.*4603T>A (n.*4603T>A)
c.1133T>A (p.Val378Asp)
c.5-7143T>A (n.5-7143T>A)
c.293T>A (p.Val98Asp)
c.-98-20904T>A (n.-98-20904T>A)
n.4956T>A
n.4997T>A
 dbSNP
17g.43071095C>ACA10591881BRCA1c.4816G>T (p.Val1606Phe)
c.4819G>T (p.Val1607Phe)
c.4693G>T (p.Val1565Phe)
c.4813G>T (p.Val1605Phe)
c.4741G>T (p.Val1581Phe)
c.1507G>T (p.Val503Phe)
c.1369G>T (p.Val457Phe)
c.3931G>T (p.Val1311Phe)
c.4696G>T (p.Val1566Phe)
c.4885G>T (p.Val1629Phe)
c.4678G>T (p.Val1560Phe)
c.1381G>T (p.Val461Phe)
c.1426G>T (p.Val476Phe)
c.4882G>T (p.Val1628Phe)
c.1206G>T
c.1393G>T (p.Val465Phe)
c.*4602G>T (n.*4602G>T)
c.1132G>T (p.Val378Phe)
c.5-7144G>T (n.5-7144G>T)
c.292G>T (p.Val98Phe)
c.-98-20905G>T (n.-98-20905G>T)
n.4955G>T
n.4996G>T
17g.43071095C>GCA10591882BRCA1c.4816G>C (p.Val1606Leu)
c.4819G>C (p.Val1607Leu)
c.4693G>C (p.Val1565Leu)
c.4813G>C (p.Val1605Leu)
c.4741G>C (p.Val1581Leu)
c.1507G>C (p.Val503Leu)
c.1369G>C (p.Val457Leu)
c.3931G>C (p.Val1311Leu)
c.4696G>C (p.Val1566Leu)
c.4885G>C (p.Val1629Leu)
c.4678G>C (p.Val1560Leu)
c.1381G>C (p.Val461Leu)
c.1426G>C (p.Val476Leu)
c.4882G>C (p.Val1628Leu)
c.1206G>C
c.1393G>C (p.Val465Leu)
c.*4602G>C (n.*4602G>C)
c.1132G>C (p.Val378Leu)
c.5-7144G>C (n.5-7144G>C)
c.292G>C (p.Val98Leu)
c.-98-20905G>C (n.-98-20905G>C)
n.4955G>C
n.4996G>C
 dbSNP
17g.43071095C>TCA10591883BRCA1c.4816G>A (p.Val1606Ile)
c.4819G>A (p.Val1607Ile)
c.4693G>A (p.Val1565Ile)
c.4813G>A (p.Val1605Ile)
c.4741G>A (p.Val1581Ile)
c.1507G>A (p.Val503Ile)
c.1369G>A (p.Val457Ile)
c.3931G>A (p.Val1311Ile)
c.4696G>A (p.Val1566Ile)
c.4885G>A (p.Val1629Ile)
c.4678G>A (p.Val1560Ile)
c.1381G>A (p.Val461Ile)
c.1426G>A (p.Val476Ile)
c.4882G>A (p.Val1628Ile)
c.1206G>A
c.1393G>A (p.Val465Ile)
c.*4602G>A (n.*4602G>A)
c.1132G>A (p.Val378Ile)
c.5-7144G>A (n.5-7144G>A)
c.292G>A (p.Val98Ile)
c.-98-20905G>A (n.-98-20905G>A)
n.4955G>A
n.4996G>A
 gnomAD v4
17g.43071095_43071096delinsCTCA2260772912BRCA1c.4815_4816delinsAG (p.Lys1605=)
c.4818_4819delinsAG (p.Lys1606=)
c.4692_4693delinsAG (p.Lys1564=)
c.4812_4813delinsAG (p.Lys1604=)
c.4740_4741delinsAG (p.Lys1580=)
c.1506_1507delinsAG (p.Lys502=)
c.1368_1369delinsAG (p.Lys456=)
c.3930_3931delinsAG (p.Lys1310=)
c.4695_4696delinsAG (p.Lys1565=)
c.4884_4885delinsAG (p.Lys1628=)
c.4677_4678delinsAG (p.Lys1559=)
c.1380_1381delinsAG (p.Lys460=)
c.1425_1426delinsAG (p.Lys475=)
c.4881_4882delinsAG (p.Lys1627=)
c.1205_1206delinsAG
c.1392_1393delinsAG (p.Lys464=)
c.*4601_*4602delinsAG (n.*4601_*4602delinsAG)
c.1131_1132delinsAG (p.Lys377=)
c.5-7145_5-7144delinsAG (n.5-7145_5-7144delinsAG)
c.291_292delinsAG (p.Lys97=)
c.-98-20906_-98-20905delinsAG (n.-98-20906_-98-20905delinsAG)
n.4954_4955delinsAG
n.4995_4996delinsAG
17g.43071096T>ACA10591884BRCA1c.4815A>T (p.Lys1605Asn)
c.4818A>T (p.Lys1606Asn)
c.4692A>T (p.Lys1564Asn)
c.4812A>T (p.Lys1604Asn)
c.4740A>T (p.Lys1580Asn)
c.1506A>T (p.Lys502Asn)
c.1368A>T (p.Lys456Asn)
c.3930A>T (p.Lys1310Asn)
c.4695A>T (p.Lys1565Asn)
c.4884A>T (p.Lys1628Asn)
c.4677A>T (p.Lys1559Asn)
c.1380A>T (p.Lys460Asn)
c.1425A>T (p.Lys475Asn)
c.4881A>T (p.Lys1627Asn)
c.1205A>T
c.1392A>T (p.Lys464Asn)
c.*4601A>T (n.*4601A>T)
c.1131A>T (p.Lys377Asn)
c.5-7145A>T (n.5-7145A>T)
c.291A>T (p.Lys97Asn)
c.-98-20906A>T (n.-98-20906A>T)
n.4954A>T
n.4995A>T
 dbSNP gnomAD v4
17g.43071096T>CCA500231821BRCA1c.4815A>G (p.Lys1605=)
c.4818A>G (p.Lys1606=)
c.4692A>G (p.Lys1564=)
c.4812A>G (p.Lys1604=)
c.4740A>G (p.Lys1580=)
c.1506A>G (p.Lys502=)
c.1368A>G (p.Lys456=)
c.3930A>G (p.Lys1310=)
c.4695A>G (p.Lys1565=)
c.4884A>G (p.Lys1628=)
c.4677A>G (p.Lys1559=)
c.1380A>G (p.Lys460=)
c.1425A>G (p.Lys475=)
c.4881A>G (p.Lys1627=)
c.1205A>G
c.1392A>G (p.Lys464=)
c.*4601A>G (n.*4601A>G)
c.1131A>G (p.Lys377=)
c.5-7145A>G (n.5-7145A>G)
c.291A>G (p.Lys97=)
c.-98-20906A>G (n.-98-20906A>G)
n.4954A>G
n.4995A>G
 ClinVar
17g.43071096T>GCA10591885BRCA1c.4815A>C (p.Lys1605Asn)
c.4818A>C (p.Lys1606Asn)
c.4692A>C (p.Lys1564Asn)
c.4812A>C (p.Lys1604Asn)
c.4740A>C (p.Lys1580Asn)
c.1506A>C (p.Lys502Asn)
c.1368A>C (p.Lys456Asn)
c.3930A>C (p.Lys1310Asn)
c.4695A>C (p.Lys1565Asn)
c.4884A>C (p.Lys1628Asn)
c.4677A>C (p.Lys1559Asn)
c.1380A>C (p.Lys460Asn)
c.1425A>C (p.Lys475Asn)
c.4881A>C (p.Lys1627Asn)
c.1205A>C
c.1392A>C (p.Lys464Asn)
c.*4601A>C (n.*4601A>C)
c.1131A>C (p.Lys377Asn)
c.5-7145A>C (n.5-7145A>C)
c.291A>C (p.Lys97Asn)
c.-98-20906A>C (n.-98-20906A>C)
n.4954A>C
n.4995A>C
17g.43071098delCA658684115BRCA1c.4815del (p.Val1606LeufsTer26)
c.4818del (p.Val1607LeufsTer26)
c.4692del (p.Val1565LeufsTer26)
c.4812del (p.Val1605LeufsTer26)
c.4740del (p.Val1581LeufsTer26)
c.1506del (p.Val503LeufsTer26)
c.1368del (p.Val457LeufsTer26)
c.3930del (p.Val1311LeufsTer26)
c.4695del (p.Val1566LeufsTer26)
c.4884del (p.Val1629LeufsTer26)
c.4677del (p.Val1560LeufsTer26)
c.1380del (p.Val461LeufsTer26)
c.1425del (p.Val476LeufsTer26)
c.4881del (p.Val1628LeufsTer26)
c.1205del
c.1392del (p.Val465LeufsTer26)
c.*4601del (n.*4601del)
c.1131del (p.Val378LeufsTer26)
c.5-7145del (n.5-7145del)
c.291del (p.Val98LeufsTer26)
c.-98-20906del (n.-98-20906del)
n.4954del
n.4995del
 ClinVar dbSNP
17g.43071097T>ACA10591886BRCA1c.4814A>T (p.Lys1605Ile)
c.4817A>T (p.Lys1606Ile)
c.4691A>T (p.Lys1564Ile)
c.4811A>T (p.Lys1604Ile)
c.4739A>T (p.Lys1580Ile)
c.1505A>T (p.Lys502Ile)
c.1367A>T (p.Lys456Ile)
c.3929A>T (p.Lys1310Ile)
c.4694A>T (p.Lys1565Ile)
c.4883A>T (p.Lys1628Ile)
c.4676A>T (p.Lys1559Ile)
c.1379A>T (p.Lys460Ile)
c.1424A>T (p.Lys475Ile)
c.4880A>T (p.Lys1627Ile)
c.1204A>T
c.1391A>T (p.Lys464Ile)
c.*4600A>T (n.*4600A>T)
c.1130A>T (p.Lys377Ile)
c.5-7146A>T (n.5-7146A>T)
c.290A>T (p.Lys97Ile)
c.-98-20907A>T (n.-98-20907A>T)
n.4953A>T
n.4994A>T
 dbSNP
17g.43071097T>CCA10591887BRCA1c.4814A>G (p.Lys1605Arg)
c.4817A>G (p.Lys1606Arg)
c.4691A>G (p.Lys1564Arg)
c.4811A>G (p.Lys1604Arg)
c.4739A>G (p.Lys1580Arg)
c.1505A>G (p.Lys502Arg)
c.1367A>G (p.Lys456Arg)
c.3929A>G (p.Lys1310Arg)
c.4694A>G (p.Lys1565Arg)
c.4883A>G (p.Lys1628Arg)
c.4676A>G (p.Lys1559Arg)
c.1379A>G (p.Lys460Arg)
c.1424A>G (p.Lys475Arg)
c.4880A>G (p.Lys1627Arg)
c.1204A>G
c.1391A>G (p.Lys464Arg)
c.*4600A>G (n.*4600A>G)
c.1130A>G (p.Lys377Arg)
c.5-7146A>G (n.5-7146A>G)
c.290A>G (p.Lys97Arg)
c.-98-20907A>G (n.-98-20907A>G)
n.4953A>G
n.4994A>G
17g.43071097T>GCA10591888BRCA1c.4814A>C (p.Lys1605Thr)
c.4817A>C (p.Lys1606Thr)
c.4691A>C (p.Lys1564Thr)
c.4811A>C (p.Lys1604Thr)
c.4739A>C (p.Lys1580Thr)
c.1505A>C (p.Lys502Thr)
c.1367A>C (p.Lys456Thr)
c.3929A>C (p.Lys1310Thr)
c.4694A>C (p.Lys1565Thr)
c.4883A>C (p.Lys1628Thr)
c.4676A>C (p.Lys1559Thr)
c.1379A>C (p.Lys460Thr)
c.1424A>C (p.Lys475Thr)
c.4880A>C (p.Lys1627Thr)
c.1204A>C
c.1391A>C (p.Lys464Thr)
c.*4600A>C (n.*4600A>C)
c.1130A>C (p.Lys377Thr)
c.5-7146A>C (n.5-7146A>C)
c.290A>C (p.Lys97Thr)
c.-98-20907A>C (n.-98-20907A>C)
n.4953A>C
n.4994A>C
17g.43071098T>ACA10591889BRCA1c.4813A>T (p.Lys1605Ter)
c.4816A>T (p.Lys1606Ter)
c.4690A>T (p.Lys1564Ter)
c.4810A>T (p.Lys1604Ter)
c.4738A>T (p.Lys1580Ter)
c.1504A>T (p.Lys502Ter)
c.1366A>T (p.Lys456Ter)
c.3928A>T (p.Lys1310Ter)
c.4693A>T (p.Lys1565Ter)
c.4882A>T (p.Lys1628Ter)
c.4675A>T (p.Lys1559Ter)
c.1378A>T (p.Lys460Ter)
c.1423A>T (p.Lys475Ter)
c.4879A>T (p.Lys1627Ter)
c.1203A>T
c.1390A>T (p.Lys464Ter)
c.*4599A>T (n.*4599A>T)
c.1129A>T (p.Lys377Ter)
c.5-7147A>T (n.5-7147A>T)
c.289A>T (p.Lys97Ter)
c.-98-20908A>T (n.-98-20908A>T)
n.4952A>T
n.4993A>T
 dbSNP
17g.43071098T>CCA003037BRCA1c.4813A>G (p.Lys1605Glu)
c.4816A>G (p.Lys1606Glu)
c.4690A>G (p.Lys1564Glu)
c.4810A>G (p.Lys1604Glu)
c.4738A>G (p.Lys1580Glu)
c.1504A>G (p.Lys502Glu)
c.1366A>G (p.Lys456Glu)
c.3928A>G (p.Lys1310Glu)
c.4693A>G (p.Lys1565Glu)
c.4882A>G (p.Lys1628Glu)
c.4675A>G (p.Lys1559Glu)
c.1378A>G (p.Lys460Glu)
c.1423A>G (p.Lys475Glu)
c.4879A>G (p.Lys1627Glu)
c.1203A>G
c.1390A>G (p.Lys464Glu)
c.*4599A>G (n.*4599A>G)
c.1129A>G (p.Lys377Glu)
c.5-7147A>G (n.5-7147A>G)
c.289A>G (p.Lys97Glu)
c.-98-20908A>G (n.-98-20908A>G)
n.4952A>G
n.4993A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071098T>GCA10591890BRCA1c.4813A>C (p.Lys1605Gln)
c.4816A>C (p.Lys1606Gln)
c.4690A>C (p.Lys1564Gln)
c.4810A>C (p.Lys1604Gln)
c.4738A>C (p.Lys1580Gln)
c.1504A>C (p.Lys502Gln)
c.1366A>C (p.Lys456Gln)
c.3928A>C (p.Lys1310Gln)
c.4693A>C (p.Lys1565Gln)
c.4882A>C (p.Lys1628Gln)
c.4675A>C (p.Lys1559Gln)
c.1378A>C (p.Lys460Gln)
c.1423A>C (p.Lys475Gln)
c.4879A>C (p.Lys1627Gln)
c.1203A>C
c.1390A>C (p.Lys464Gln)
c.*4599A>C (n.*4599A>C)
c.1129A>C (p.Lys377Gln)
c.5-7147A>C (n.5-7147A>C)
c.289A>C (p.Lys97Gln)
c.-98-20908A>C (n.-98-20908A>C)
n.4952A>C
n.4993A>C
17g.43071098T=CA2260772913BRCA1c.4813A= (p.Lys1605=)
c.4816A= (p.Lys1606=)
c.4690A= (p.Lys1564=)
c.4810A= (p.Lys1604=)
c.4738A= (p.Lys1580=)
c.1504A= (p.Lys502=)
c.1366A= (p.Lys456=)
c.3928A= (p.Lys1310=)
c.4693A= (p.Lys1565=)
c.4882A= (p.Lys1628=)
c.4675A= (p.Lys1559=)
c.1378A= (p.Lys460=)
c.1423A= (p.Lys475=)
c.4879A= (p.Lys1627=)
c.1203A=
c.1390A= (p.Lys464=)
c.*4599A= (n.*4599A=)
c.1129A= (p.Lys377=)
c.5-7147A= (n.5-7147A=)
c.289A= (p.Lys97=)
c.-98-20908A= (n.-98-20908A=)
n.4952A=
n.4993A=
17g.43071099delCA1139771847BRCA1c.4812del (p.Val1606LeufsTer26)
c.4815del (p.Val1607LeufsTer26)
c.4689del (p.Val1565LeufsTer26)
c.4809del (p.Val1605LeufsTer26)
c.4737del (p.Val1581LeufsTer26)
c.1503del (p.Val503LeufsTer26)
c.1365del (p.Val457LeufsTer26)
c.3927del (p.Val1311LeufsTer26)
c.4692del (p.Val1566LeufsTer26)
c.4881del (p.Val1629LeufsTer26)
c.4674del (p.Val1560LeufsTer26)
c.1377del (p.Val461LeufsTer26)
c.1422del (p.Val476LeufsTer26)
c.4878del (p.Val1628LeufsTer26)
c.1202del
c.1389del (p.Val465LeufsTer26)
c.*4598del (n.*4598del)
c.1128del (p.Val378LeufsTer26)
c.5-7148del (n.5-7148del)
c.288del (p.Val98LeufsTer26)
c.-98-20909del (n.-98-20909del)
n.4951del
n.4992del
17g.43071099C>ACA10591891BRCA1c.4812G>T (p.Leu1604Phe)
c.4815G>T (p.Leu1605Phe)
c.4689G>T (p.Leu1563Phe)
c.4809G>T (p.Leu1603Phe)
c.4737G>T (p.Leu1579Phe)
c.1503G>T (p.Leu501Phe)
c.1365G>T (p.Leu455Phe)
c.3927G>T (p.Leu1309Phe)
c.4692G>T (p.Leu1564Phe)
c.4881G>T (p.Leu1627Phe)
c.4674G>T (p.Leu1558Phe)
c.1377G>T (p.Leu459Phe)
c.1422G>T (p.Leu474Phe)
c.4878G>T (p.Leu1626Phe)
c.1202G>T
c.1389G>T (p.Leu463Phe)
c.*4598G>T (n.*4598G>T)
c.1128G>T (p.Leu376Phe)
c.5-7148G>T (n.5-7148G>T)
c.288G>T (p.Leu96Phe)
c.-98-20909G>T (n.-98-20909G>T)
n.4951G>T
n.4992G>T
17g.43071099C=CA2260772914BRCA1c.4812G= (p.Leu1604=)
c.4815G= (p.Leu1605=)
c.4689G= (p.Leu1563=)
c.4809G= (p.Leu1603=)
c.4737G= (p.Leu1579=)
c.1503G= (p.Leu501=)
c.1365G= (p.Leu455=)
c.3927G= (p.Leu1309=)
c.4692G= (p.Leu1564=)
c.4881G= (p.Leu1627=)
c.4674G= (p.Leu1558=)
c.1377G= (p.Leu459=)
c.1422G= (p.Leu474=)
c.4878G= (p.Leu1626=)
c.1202G=
c.1389G= (p.Leu463=)
c.*4598G= (n.*4598G=)
c.1128G= (p.Leu376=)
c.5-7148G= (n.5-7148G=)
c.288G= (p.Leu96=)
c.-98-20909G= (n.-98-20909G=)
n.4951G=
n.4992G=
17g.43071099C>GCA10591892BRCA1c.4812G>C (p.Leu1604Phe)
c.4815G>C (p.Leu1605Phe)
c.4689G>C (p.Leu1563Phe)
c.4809G>C (p.Leu1603Phe)
c.4737G>C (p.Leu1579Phe)
c.1503G>C (p.Leu501Phe)
c.1365G>C (p.Leu455Phe)
c.3927G>C (p.Leu1309Phe)
c.4692G>C (p.Leu1564Phe)
c.4881G>C (p.Leu1627Phe)
c.4674G>C (p.Leu1558Phe)
c.1377G>C (p.Leu459Phe)
c.1422G>C (p.Leu474Phe)
c.4878G>C (p.Leu1626Phe)
c.1202G>C
c.1389G>C (p.Leu463Phe)
c.*4598G>C (n.*4598G>C)
c.1128G>C (p.Leu376Phe)
c.5-7148G>C (n.5-7148G>C)
c.288G>C (p.Leu96Phe)
c.-98-20909G>C (n.-98-20909G>C)
n.4951G>C
n.4992G>C
 dbSNP
17g.43071099C>TCA16615756BRCA1c.4812G>A (p.Leu1604=)
c.4815G>A (p.Leu1605=)
c.4689G>A (p.Leu1563=)
c.4809G>A (p.Leu1603=)
c.4737G>A (p.Leu1579=)
c.1503G>A (p.Leu501=)
c.1365G>A (p.Leu455=)
c.3927G>A (p.Leu1309=)
c.4692G>A (p.Leu1564=)
c.4881G>A (p.Leu1627=)
c.4674G>A (p.Leu1558=)
c.1377G>A (p.Leu459=)
c.1422G>A (p.Leu474=)
c.4878G>A (p.Leu1626=)
c.1202G>A
c.1389G>A (p.Leu463=)
c.*4598G>A (n.*4598G>A)
c.1128G>A (p.Leu376=)
c.5-7148G>A (n.5-7148G>A)
c.288G>A (p.Leu96=)
c.-98-20909G>A (n.-98-20909G>A)
n.4951G>A
n.4992G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071100A=CA2260772915BRCA1c.4811T= (p.Leu1604=)
c.4814T= (p.Leu1605=)
c.4688T= (p.Leu1563=)
c.4808T= (p.Leu1603=)
c.4736T= (p.Leu1579=)
c.1502T= (p.Leu501=)
c.1364T= (p.Leu455=)
c.3926T= (p.Leu1309=)
c.4691T= (p.Leu1564=)
c.4880T= (p.Leu1627=)
c.4673T= (p.Leu1558=)
c.1376T= (p.Leu459=)
c.1421T= (p.Leu474=)
c.4877T= (p.Leu1626=)
c.1201T=
c.1388T= (p.Leu463=)
c.*4597T= (n.*4597T=)
c.1127T= (p.Leu376=)
c.5-7149T= (n.5-7149T=)
c.287T= (p.Leu96=)
c.-98-20910T= (n.-98-20910T=)
n.4950T=
n.4991T=
17g.43071100A>CCA10591893BRCA1c.4811T>G (p.Leu1604Trp)
c.4814T>G (p.Leu1605Trp)
c.4688T>G (p.Leu1563Trp)
c.4808T>G (p.Leu1603Trp)
c.4736T>G (p.Leu1579Trp)
c.1502T>G (p.Leu501Trp)
c.1364T>G (p.Leu455Trp)
c.3926T>G (p.Leu1309Trp)
c.4691T>G (p.Leu1564Trp)
c.4880T>G (p.Leu1627Trp)
c.4673T>G (p.Leu1558Trp)
c.1376T>G (p.Leu459Trp)
c.1421T>G (p.Leu474Trp)
c.4877T>G (p.Leu1626Trp)
c.1201T>G
c.1388T>G (p.Leu463Trp)
c.*4597T>G (n.*4597T>G)
c.1127T>G (p.Leu376Trp)
c.5-7149T>G (n.5-7149T>G)
c.287T>G (p.Leu96Trp)
c.-98-20910T>G (n.-98-20910T>G)
n.4950T>G
n.4991T>G
17g.43071100A>GCA10591894BRCA1c.4811T>C (p.Leu1604Ser)
c.4814T>C (p.Leu1605Ser)
c.4688T>C (p.Leu1563Ser)
c.4808T>C (p.Leu1603Ser)
c.4736T>C (p.Leu1579Ser)
c.1502T>C (p.Leu501Ser)
c.1364T>C (p.Leu455Ser)
c.3926T>C (p.Leu1309Ser)
c.4691T>C (p.Leu1564Ser)
c.4880T>C (p.Leu1627Ser)
c.4673T>C (p.Leu1558Ser)
c.1376T>C (p.Leu459Ser)
c.1421T>C (p.Leu474Ser)
c.4877T>C (p.Leu1626Ser)
c.1201T>C
c.1388T>C (p.Leu463Ser)
c.*4597T>C (n.*4597T>C)
c.1127T>C (p.Leu376Ser)
c.5-7149T>C (n.5-7149T>C)
c.287T>C (p.Leu96Ser)
c.-98-20910T>C (n.-98-20910T>C)
n.4950T>C
n.4991T>C
 ClinVar dbSNP
17g.43071100A>TCA10591895BRCA1c.4811T>A (p.Leu1604Ter)
c.4814T>A (p.Leu1605Ter)
c.4688T>A (p.Leu1563Ter)
c.4808T>A (p.Leu1603Ter)
c.4736T>A (p.Leu1579Ter)
c.1502T>A (p.Leu501Ter)
c.1364T>A (p.Leu455Ter)
c.3926T>A (p.Leu1309Ter)
c.4691T>A (p.Leu1564Ter)
c.4880T>A (p.Leu1627Ter)
c.4673T>A (p.Leu1558Ter)
c.1376T>A (p.Leu459Ter)
c.1421T>A (p.Leu474Ter)
c.4877T>A (p.Leu1626Ter)
c.1201T>A
c.1388T>A (p.Leu463Ter)
c.*4597T>A (n.*4597T>A)
c.1127T>A (p.Leu376Ter)
c.5-7149T>A (n.5-7149T>A)
c.287T>A (p.Leu96Ter)
c.-98-20910T>A (n.-98-20910T>A)
n.4950T>A
n.4991T>A
 dbSNP
17g.43071102_43071103insAAATCA916080196BRCA1c.4811_4812insTATT (p.Leu1604PhefsTer18)
c.4814_4815insTATT (p.Leu1605PhefsTer18)
c.4688_4689insTATT (p.Leu1563PhefsTer18)
c.4808_4809insTATT (p.Leu1603PhefsTer18)
c.4736_4737insTATT (p.Leu1579PhefsTer18)
c.1502_1503insTATT (p.Leu501PhefsTer18)
c.1364_1365insTATT (p.Leu455PhefsTer18)
c.3926_3927insTATT (p.Leu1309PhefsTer18)
c.4691_4692insTATT (p.Leu1564PhefsTer18)
c.4880_4881insTATT (p.Leu1627PhefsTer18)
c.4673_4674insTATT (p.Leu1558PhefsTer18)
c.1376_1377insTATT (p.Leu459PhefsTer18)
c.1421_1422insTATT (p.Leu474PhefsTer18)
c.4877_4878insTATT (p.Leu1626PhefsTer18)
c.1201_1202insTATT
c.1388_1389insTATT (p.Leu463PhefsTer18)
c.*4597_*4598insTATT (n.*4597_*4598insTATT)
c.1127_1128insTATT (p.Leu376PhefsTer18)
c.5-7149_5-7148insTATT (n.5-7149_5-7148insTATT)
c.287_288insTATT (p.Leu96PhefsTer18)
c.-98-20910_-98-20909insTATT (n.-98-20910_-98-20909insTATT)
n.4950_4951insTATT
n.4991_4992insTATT
 ClinVar dbSNP
17g.43071101A=CA2260772916BRCA1c.4810T= (p.Leu1604=)
c.4813T= (p.Leu1605=)
c.4687T= (p.Leu1563=)
c.4807T= (p.Leu1603=)
c.4735T= (p.Leu1579=)
c.1501T= (p.Leu501=)
c.1363T= (p.Leu455=)
c.3925T= (p.Leu1309=)
c.4690T= (p.Leu1564=)
c.4879T= (p.Leu1627=)
c.4672T= (p.Leu1558=)
c.1375T= (p.Leu459=)
c.1420T= (p.Leu474=)
c.4876T= (p.Leu1626=)
c.1200T=
c.1387T= (p.Leu463=)
c.*4596T= (n.*4596T=)
c.1126T= (p.Leu376=)
c.5-7150T= (n.5-7150T=)
c.286T= (p.Leu96=)
c.-98-20911T= (n.-98-20911T=)
n.4949T=
n.4990T=
17g.43071101A>CCA003036BRCA1c.4810T>G (p.Leu1604Val)
c.4813T>G (p.Leu1605Val)
c.4687T>G (p.Leu1563Val)
c.4807T>G (p.Leu1603Val)
c.4735T>G (p.Leu1579Val)
c.1501T>G (p.Leu501Val)
c.1363T>G (p.Leu455Val)
c.3925T>G (p.Leu1309Val)
c.4690T>G (p.Leu1564Val)
c.4879T>G (p.Leu1627Val)
c.4672T>G (p.Leu1558Val)
c.1375T>G (p.Leu459Val)
c.1420T>G (p.Leu474Val)
c.4876T>G (p.Leu1626Val)
c.1200T>G
c.1387T>G (p.Leu463Val)
c.*4596T>G (n.*4596T>G)
c.1126T>G (p.Leu376Val)
c.5-7150T>G (n.5-7150T>G)
c.286T>G (p.Leu96Val)
c.-98-20911T>G (n.-98-20911T>G)
n.4949T>G
n.4990T>G
 ClinVar dbSNP
17g.43071101A>GCA003035BRCA1c.4810T>C (p.Leu1604=)
c.4813T>C (p.Leu1605=)
c.4687T>C (p.Leu1563=)
c.4807T>C (p.Leu1603=)
c.4735T>C (p.Leu1579=)
c.1501T>C (p.Leu501=)
c.1363T>C (p.Leu455=)
c.3925T>C (p.Leu1309=)
c.4690T>C (p.Leu1564=)
c.4879T>C (p.Leu1627=)
c.4672T>C (p.Leu1558=)
c.1375T>C (p.Leu459=)
c.1420T>C (p.Leu474=)
c.4876T>C (p.Leu1626=)
c.1200T>C
c.1387T>C (p.Leu463=)
c.*4596T>C (n.*4596T>C)
c.1126T>C (p.Leu376=)
c.5-7150T>C (n.5-7150T>C)
c.286T>C (p.Leu96=)
c.-98-20911T>C (n.-98-20911T>C)
n.4949T>C
n.4990T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071101A>TCA003034BRCA1c.4810T>A (p.Leu1604Met)
c.4813T>A (p.Leu1605Met)
c.4687T>A (p.Leu1563Met)
c.4807T>A (p.Leu1603Met)
c.4735T>A (p.Leu1579Met)
c.1501T>A (p.Leu501Met)
c.1363T>A (p.Leu455Met)
c.3925T>A (p.Leu1309Met)
c.4690T>A (p.Leu1564Met)
c.4879T>A (p.Leu1627Met)
c.4672T>A (p.Leu1558Met)
c.1375T>A (p.Leu459Met)
c.1420T>A (p.Leu474Met)
c.4876T>A (p.Leu1626Met)
c.1200T>A
c.1387T>A (p.Leu463Met)
c.*4596T>A (n.*4596T>A)
c.1126T>A (p.Leu376Met)
c.5-7150T>A (n.5-7150T>A)
c.286T>A (p.Leu96Met)
c.-98-20911T>A (n.-98-20911T>A)
n.4949T>A
n.4990T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071102T>ACA10591896BRCA1c.4809A>T (p.Gln1603His)
c.4812A>T (p.Gln1604His)
c.4686A>T (p.Gln1562His)
c.4806A>T (p.Gln1602His)
c.4734A>T (p.Gln1578His)
c.1500A>T (p.Gln500His)
c.1362A>T (p.Gln454His)
c.3924A>T (p.Gln1308His)
c.4689A>T (p.Gln1563His)
c.4878A>T (p.Gln1626His)
c.4671A>T (p.Gln1557His)
c.1374A>T (p.Gln458His)
c.1419A>T (p.Gln473His)
c.4875A>T (p.Gln1625His)
c.1199A>T
c.1386A>T (p.Gln462His)
c.*4595A>T (n.*4595A>T)
c.1125A>T (p.Gln375His)
c.5-7151A>T (n.5-7151A>T)
c.285A>T (p.Gln95His)
c.-98-20912A>T (n.-98-20912A>T)
n.4948A>T
n.4989A>T
 dbSNP
17g.43071102T>CCA003033BRCA1c.4809A>G (p.Gln1603=)
c.4812A>G (p.Gln1604=)
c.4686A>G (p.Gln1562=)
c.4806A>G (p.Gln1602=)
c.4734A>G (p.Gln1578=)
c.1500A>G (p.Gln500=)
c.1362A>G (p.Gln454=)
c.3924A>G (p.Gln1308=)
c.4689A>G (p.Gln1563=)
c.4878A>G (p.Gln1626=)
c.4671A>G (p.Gln1557=)
c.1374A>G (p.Gln458=)
c.1419A>G (p.Gln473=)
c.4875A>G (p.Gln1625=)
c.1199A>G
c.1386A>G (p.Gln462=)
c.*4595A>G (n.*4595A>G)
c.1125A>G (p.Gln375=)
c.5-7151A>G (n.5-7151A>G)
c.285A>G (p.Gln95=)
c.-98-20912A>G (n.-98-20912A>G)
n.4948A>G
n.4989A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071102T>GCA10591897BRCA1c.4809A>C (p.Gln1603His)
c.4812A>C (p.Gln1604His)
c.4686A>C (p.Gln1562His)
c.4806A>C (p.Gln1602His)
c.4734A>C (p.Gln1578His)
c.1500A>C (p.Gln500His)
c.1362A>C (p.Gln454His)
c.3924A>C (p.Gln1308His)
c.4689A>C (p.Gln1563His)
c.4878A>C (p.Gln1626His)
c.4671A>C (p.Gln1557His)
c.1374A>C (p.Gln458His)
c.1419A>C (p.Gln473His)
c.4875A>C (p.Gln1625His)
c.1199A>C
c.1386A>C (p.Gln462His)
c.*4595A>C (n.*4595A>C)
c.1125A>C (p.Gln375His)
c.5-7151A>C (n.5-7151A>C)
c.285A>C (p.Gln95His)
c.-98-20912A>C (n.-98-20912A>C)
n.4948A>C
n.4989A>C
17g.43071102T=CA2260772917BRCA1c.4809A= (p.Gln1603=)
c.4812A= (p.Gln1604=)
c.4686A= (p.Gln1562=)
c.4806A= (p.Gln1602=)
c.4734A= (p.Gln1578=)
c.1500A= (p.Gln500=)
c.1362A= (p.Gln454=)
c.3924A= (p.Gln1308=)
c.4689A= (p.Gln1563=)
c.4878A= (p.Gln1626=)
c.4671A= (p.Gln1557=)
c.1374A= (p.Gln458=)
c.1419A= (p.Gln473=)
c.4875A= (p.Gln1625=)
c.1199A=
c.1386A= (p.Gln462=)
c.*4595A= (n.*4595A=)
c.1125A= (p.Gln375=)
c.5-7151A= (n.5-7151A=)
c.285A= (p.Gln95=)
c.-98-20912A= (n.-98-20912A=)
n.4948A=
n.4989A=
17g.43071102_43071127delCA2695225907BRCA1c.4784_4809del (p.Ser1595PhefsTer17)
c.4787_4812del (p.Ser1596PhefsTer17)
c.4661_4686del (p.Ser1554PhefsTer17)
c.4781_4806del (p.Ser1594PhefsTer17)
c.4709_4734del (p.Ser1570PhefsTer17)
c.1475_1500del (p.Ser492PhefsTer17)
c.1337_1362del (p.Ser446PhefsTer17)
c.3899_3924del (p.Ser1300PhefsTer17)
c.4664_4689del (p.Ser1555PhefsTer17)
c.4853_4878del (p.Ser1618PhefsTer17)
c.4646_4671del (p.Ser1549PhefsTer17)
c.1349_1374del (p.Ser450PhefsTer17)
c.1394_1419del (p.Ser465PhefsTer17)
c.4850_4875del (p.Ser1617PhefsTer17)
c.1174_1199del
c.1361_1386del (p.Ser454PhefsTer17)
c.*4570_*4595del (n.*4570_*4595del)
c.1100_1125del (p.Ser367PhefsTer17)
c.5-7176_5-7151del (n.5-7176_5-7151del)
c.260_285del (p.Ser87PhefsTer17)
c.-98-20937_-98-20912del (n.-98-20937_-98-20912del)
n.4923_4948del
n.4964_4989del
17g.43071103T>ACA10591898BRCA1c.4808A>T (p.Gln1603Leu)
c.4811A>T (p.Gln1604Leu)
c.4685A>T (p.Gln1562Leu)
c.4805A>T (p.Gln1602Leu)
c.4733A>T (p.Gln1578Leu)
c.1499A>T (p.Gln500Leu)
c.1361A>T (p.Gln454Leu)
c.3923A>T (p.Gln1308Leu)
c.4688A>T (p.Gln1563Leu)
c.4877A>T (p.Gln1626Leu)
c.4670A>T (p.Gln1557Leu)
c.1373A>T (p.Gln458Leu)
c.1418A>T (p.Gln473Leu)
c.4874A>T (p.Gln1625Leu)
c.1198A>T
c.1385A>T (p.Gln462Leu)
c.*4594A>T (n.*4594A>T)
c.1124A>T (p.Gln375Leu)
c.5-7152A>T (n.5-7152A>T)
c.284A>T (p.Gln95Leu)
c.-98-20913A>T (n.-98-20913A>T)
n.4947A>T
n.4988A>T
 dbSNP
17g.43071103T>CCA003032BRCA1c.4808A>G (p.Gln1603Arg)
c.4811A>G (p.Gln1604Arg)
c.4685A>G (p.Gln1562Arg)
c.4805A>G (p.Gln1602Arg)
c.4733A>G (p.Gln1578Arg)
c.1499A>G (p.Gln500Arg)
c.1361A>G (p.Gln454Arg)
c.3923A>G (p.Gln1308Arg)
c.4688A>G (p.Gln1563Arg)
c.4877A>G (p.Gln1626Arg)
c.4670A>G (p.Gln1557Arg)
c.1373A>G (p.Gln458Arg)
c.1418A>G (p.Gln473Arg)
c.4874A>G (p.Gln1625Arg)
c.1198A>G
c.1385A>G (p.Gln462Arg)
c.*4594A>G (n.*4594A>G)
c.1124A>G (p.Gln375Arg)
c.5-7152A>G (n.5-7152A>G)
c.284A>G (p.Gln95Arg)
c.-98-20913A>G (n.-98-20913A>G)
n.4947A>G
n.4988A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071103T>GCA10591899BRCA1c.4808A>C (p.Gln1603Pro)
c.4811A>C (p.Gln1604Pro)
c.4685A>C (p.Gln1562Pro)
c.4805A>C (p.Gln1602Pro)
c.4733A>C (p.Gln1578Pro)
c.1499A>C (p.Gln500Pro)
c.1361A>C (p.Gln454Pro)
c.3923A>C (p.Gln1308Pro)
c.4688A>C (p.Gln1563Pro)
c.4877A>C (p.Gln1626Pro)
c.4670A>C (p.Gln1557Pro)
c.1373A>C (p.Gln458Pro)
c.1418A>C (p.Gln473Pro)
c.4874A>C (p.Gln1625Pro)
c.1198A>C
c.1385A>C (p.Gln462Pro)
c.*4594A>C (n.*4594A>C)
c.1124A>C (p.Gln375Pro)
c.5-7152A>C (n.5-7152A>C)
c.284A>C (p.Gln95Pro)
c.-98-20913A>C (n.-98-20913A>C)
n.4947A>C
n.4988A>C
17g.43071103T=CA2260772918BRCA1c.4808A= (p.Gln1603=)
c.4811A= (p.Gln1604=)
c.4685A= (p.Gln1562=)
c.4805A= (p.Gln1602=)
c.4733A= (p.Gln1578=)
c.1499A= (p.Gln500=)
c.1361A= (p.Gln454=)
c.3923A= (p.Gln1308=)
c.4688A= (p.Gln1563=)
c.4877A= (p.Gln1626=)
c.4670A= (p.Gln1557=)
c.1373A= (p.Gln458=)
c.1418A= (p.Gln473=)
c.4874A= (p.Gln1625=)
c.1198A=
c.1385A= (p.Gln462=)
c.*4594A= (n.*4594A=)
c.1124A= (p.Gln375=)
c.5-7152A= (n.5-7152A=)
c.284A= (p.Gln95=)
c.-98-20913A= (n.-98-20913A=)
n.4947A=
n.4988A=
17g.43071103_43071104delinsTGCA2260772919BRCA1c.4807_4808delinsCA (p.Gln1603=)
c.4810_4811delinsCA (p.Gln1604=)
c.4684_4685delinsCA (p.Gln1562=)
c.4804_4805delinsCA (p.Gln1602=)
c.4732_4733delinsCA (p.Gln1578=)
c.1498_1499delinsCA (p.Gln500=)
c.1360_1361delinsCA (p.Gln454=)
c.3922_3923delinsCA (p.Gln1308=)
c.4687_4688delinsCA (p.Gln1563=)
c.4876_4877delinsCA (p.Gln1626=)
c.4669_4670delinsCA (p.Gln1557=)
c.1372_1373delinsCA (p.Gln458=)
c.1417_1418delinsCA (p.Gln473=)
c.4873_4874delinsCA (p.Gln1625=)
c.1197_1198delinsCA
c.1384_1385delinsCA (p.Gln462=)
c.*4593_*4594delinsCA (n.*4593_*4594delinsCA)
c.1123_1124delinsCA (p.Gln375=)
c.5-7153_5-7152delinsCA (n.5-7153_5-7152delinsCA)
c.283_284delinsCA (p.Gln95=)
c.-98-20914_-98-20913delinsCA (n.-98-20914_-98-20913delinsCA)
n.4946_4947delinsCA
n.4987_4988delinsCA
17g.43071104G>ACA003031BRCA1c.4807C>T (p.Gln1603Ter)
c.4810C>T (p.Gln1604Ter)
c.4684C>T (p.Gln1562Ter)
c.4804C>T (p.Gln1602Ter)
c.4732C>T (p.Gln1578Ter)
c.1498C>T (p.Gln500Ter)
c.1360C>T (p.Gln454Ter)
c.3922C>T (p.Gln1308Ter)
c.4687C>T (p.Gln1563Ter)
c.4876C>T (p.Gln1626Ter)
c.4669C>T (p.Gln1557Ter)
c.1372C>T (p.Gln458Ter)
c.1417C>T (p.Gln473Ter)
c.4873C>T (p.Gln1625Ter)
c.1197C>T
c.1384C>T (p.Gln462Ter)
c.*4593C>T (n.*4593C>T)
c.1123C>T (p.Gln375Ter)
c.5-7153C>T (n.5-7153C>T)
c.283C>T (p.Gln95Ter)
c.-98-20914C>T (n.-98-20914C>T)
n.4946C>T
n.4987C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43071104G>CCA10591900BRCA1c.4807C>G (p.Gln1603Glu)
c.4810C>G (p.Gln1604Glu)
c.4684C>G (p.Gln1562Glu)
c.4804C>G (p.Gln1602Glu)
c.4732C>G (p.Gln1578Glu)
c.1498C>G (p.Gln500Glu)
c.1360C>G (p.Gln454Glu)
c.3922C>G (p.Gln1308Glu)
c.4687C>G (p.Gln1563Glu)
c.4876C>G (p.Gln1626Glu)
c.4669C>G (p.Gln1557Glu)
c.1372C>G (p.Gln458Glu)
c.1417C>G (p.Gln473Glu)
c.4873C>G (p.Gln1625Glu)
c.1197C>G
c.1384C>G (p.Gln462Glu)
c.*4593C>G (n.*4593C>G)
c.1123C>G (p.Gln375Glu)
c.5-7153C>G (n.5-7153C>G)
c.283C>G (p.Gln95Glu)
c.-98-20914C>G (n.-98-20914C>G)
n.4946C>G
n.4987C>G
 ClinVar dbSNP
17g.43071104G=CA2260772920BRCA1c.4807C= (p.Gln1603=)
c.4810C= (p.Gln1604=)
c.4684C= (p.Gln1562=)
c.4804C= (p.Gln1602=)
c.4732C= (p.Gln1578=)
c.1498C= (p.Gln500=)
c.1360C= (p.Gln454=)
c.3922C= (p.Gln1308=)
c.4687C= (p.Gln1563=)
c.4876C= (p.Gln1626=)
c.4669C= (p.Gln1557=)
c.1372C= (p.Gln458=)
c.1417C= (p.Gln473=)
c.4873C= (p.Gln1625=)
c.1197C=
c.1384C= (p.Gln462=)
c.*4593C= (n.*4593C=)
c.1123C= (p.Gln375=)
c.5-7153C= (n.5-7153C=)
c.283C= (p.Gln95=)
c.-98-20914C= (n.-98-20914C=)
n.4946C=
n.4987C=
17g.43071104G>TCA10591901BRCA1c.4807C>A (p.Gln1603Lys)
c.4810C>A (p.Gln1604Lys)
c.4684C>A (p.Gln1562Lys)
c.4804C>A (p.Gln1602Lys)
c.4732C>A (p.Gln1578Lys)
c.1498C>A (p.Gln500Lys)
c.1360C>A (p.Gln454Lys)
c.3922C>A (p.Gln1308Lys)
c.4687C>A (p.Gln1563Lys)
c.4876C>A (p.Gln1626Lys)
c.4669C>A (p.Gln1557Lys)
c.1372C>A (p.Gln458Lys)
c.1417C>A (p.Gln473Lys)
c.4873C>A (p.Gln1625Lys)
c.1197C>A
c.1384C>A (p.Gln462Lys)
c.*4593C>A (n.*4593C>A)
c.1123C>A (p.Gln375Lys)
c.5-7153C>A (n.5-7153C>A)
c.283C>A (p.Gln95Lys)
c.-98-20914C>A (n.-98-20914C>A)
n.4946C>A
n.4987C>A
 ClinVar dbSNP
17g.43071107delCA658825007BRCA1c.4807del (p.Gln1603AsnfsTer2)
c.4810del (p.Gln1604AsnfsTer2)
c.4684del (p.Gln1562AsnfsTer2)
c.4804del (p.Gln1602AsnfsTer2)
c.4732del (p.Gln1578AsnfsTer2)
c.1498del (p.Gln500AsnfsTer2)
c.1360del (p.Gln454AsnfsTer2)
c.3922del (p.Gln1308AsnfsTer2)
c.4687del (p.Gln1563AsnfsTer2)
c.4876del (p.Gln1626AsnfsTer2)
c.4669del (p.Gln1557AsnfsTer2)
c.1372del (p.Gln458AsnfsTer2)
c.1417del (p.Gln473AsnfsTer2)
c.4873del (p.Gln1625AsnfsTer2)
c.1197del
c.1384del (p.Gln462AsnfsTer2)
c.*4593del (n.*4593del)
c.1123del (p.Gln375AsnfsTer2)
c.5-7153del (n.5-7153del)
c.283del (p.Gln95AsnfsTer2)
c.-98-20914del (n.-98-20914del)
n.4946del
n.4987del
 ClinVar dbSNP
17g.43071105G>ACA500231824BRCA1c.4806C>T (p.Pro1602=)
c.4809C>T (p.Pro1603=)
c.4683C>T (p.Pro1561=)
c.4803C>T (p.Pro1601=)
c.4731C>T (p.Pro1577=)
c.1497C>T (p.Pro499=)
c.1359C>T (p.Pro453=)
c.3921C>T (p.Pro1307=)
c.4686C>T (p.Pro1562=)
c.4875C>T (p.Pro1625=)
c.4668C>T (p.Pro1556=)
c.1371C>T (p.Pro457=)
c.1416C>T (p.Pro472=)
c.4872C>T (p.Pro1624=)
c.1196C>T
c.1383C>T (p.Pro461=)
c.*4592C>T (n.*4592C>T)
c.1122C>T (p.Pro374=)
c.5-7154C>T (n.5-7154C>T)
c.282C>T (p.Pro94=)
c.-98-20915C>T (n.-98-20915C>T)
n.4945C>T
n.4986C>T
 ClinVar dbSNP
17g.43071105G>CCA500231822BRCA1c.4806C>G (p.Pro1602=)
c.4809C>G (p.Pro1603=)
c.4683C>G (p.Pro1561=)
c.4803C>G (p.Pro1601=)
c.4731C>G (p.Pro1577=)
c.1497C>G (p.Pro499=)
c.1359C>G (p.Pro453=)
c.3921C>G (p.Pro1307=)
c.4686C>G (p.Pro1562=)
c.4875C>G (p.Pro1625=)
c.4668C>G (p.Pro1556=)
c.1371C>G (p.Pro457=)
c.1416C>G (p.Pro472=)
c.4872C>G (p.Pro1624=)
c.1196C>G
c.1383C>G (p.Pro461=)
c.*4592C>G (n.*4592C>G)
c.1122C>G (p.Pro374=)
c.5-7154C>G (n.5-7154C>G)
c.282C>G (p.Pro94=)
c.-98-20915C>G (n.-98-20915C>G)
n.4945C>G
n.4986C>G
 dbSNP
17g.43071105G>TCA500231823BRCA1c.4806C>A (p.Pro1602=)
c.4809C>A (p.Pro1603=)
c.4683C>A (p.Pro1561=)
c.4803C>A (p.Pro1601=)
c.4731C>A (p.Pro1577=)
c.1497C>A (p.Pro499=)
c.1359C>A (p.Pro453=)
c.3921C>A (p.Pro1307=)
c.4686C>A (p.Pro1562=)
c.4875C>A (p.Pro1625=)
c.4668C>A (p.Pro1556=)
c.1371C>A (p.Pro457=)
c.1416C>A (p.Pro472=)
c.4872C>A (p.Pro1624=)
c.1196C>A
c.1383C>A (p.Pro461=)
c.*4592C>A (n.*4592C>A)
c.1122C>A (p.Pro374=)
c.5-7154C>A (n.5-7154C>A)
c.282C>A (p.Pro94=)
c.-98-20915C>A (n.-98-20915C>A)
n.4945C>A
n.4986C>A
 dbSNP
17g.43071106G>ACA10591902BRCA1c.4805C>T (p.Pro1602Leu)
c.4808C>T (p.Pro1603Leu)
c.4682C>T (p.Pro1561Leu)
c.4802C>T (p.Pro1601Leu)
c.4730C>T (p.Pro1577Leu)
c.1496C>T (p.Pro499Leu)
c.1358C>T (p.Pro453Leu)
c.3920C>T (p.Pro1307Leu)
c.4685C>T (p.Pro1562Leu)
c.4874C>T (p.Pro1625Leu)
c.4667C>T (p.Pro1556Leu)
c.1370C>T (p.Pro457Leu)
c.1415C>T (p.Pro472Leu)
c.4871C>T (p.Pro1624Leu)
c.1195C>T
c.1382C>T (p.Pro461Leu)
c.*4591C>T (n.*4591C>T)
c.1121C>T (p.Pro374Leu)
c.5-7155C>T (n.5-7155C>T)
c.281C>T (p.Pro94Leu)
c.-98-20916C>T (n.-98-20916C>T)
n.4944C>T
n.4985C>T
 ClinVar dbSNP
17g.43071106G>CCA10591903BRCA1c.4805C>G (p.Pro1602Arg)
c.4808C>G (p.Pro1603Arg)
c.4682C>G (p.Pro1561Arg)
c.4802C>G (p.Pro1601Arg)
c.4730C>G (p.Pro1577Arg)
c.1496C>G (p.Pro499Arg)
c.1358C>G (p.Pro453Arg)
c.3920C>G (p.Pro1307Arg)
c.4685C>G (p.Pro1562Arg)
c.4874C>G (p.Pro1625Arg)
c.4667C>G (p.Pro1556Arg)
c.1370C>G (p.Pro457Arg)
c.1415C>G (p.Pro472Arg)
c.4871C>G (p.Pro1624Arg)
c.1195C>G
c.1382C>G (p.Pro461Arg)
c.*4591C>G (n.*4591C>G)
c.1121C>G (p.Pro374Arg)
c.5-7155C>G (n.5-7155C>G)
c.281C>G (p.Pro94Arg)
c.-98-20916C>G (n.-98-20916C>G)
n.4944C>G
n.4985C>G
 dbSNP gnomAD v4
17g.43071106G=CA2260772921BRCA1c.4805C= (p.Pro1602=)
c.4808C= (p.Pro1603=)
c.4682C= (p.Pro1561=)
c.4802C= (p.Pro1601=)
c.4730C= (p.Pro1577=)
c.1496C= (p.Pro499=)
c.1358C= (p.Pro453=)
c.3920C= (p.Pro1307=)
c.4685C= (p.Pro1562=)
c.4874C= (p.Pro1625=)
c.4667C= (p.Pro1556=)
c.1370C= (p.Pro457=)
c.1415C= (p.Pro472=)
c.4871C= (p.Pro1624=)
c.1195C=
c.1382C= (p.Pro461=)
c.*4591C= (n.*4591C=)
c.1121C= (p.Pro374=)
c.5-7155C= (n.5-7155C=)
c.281C= (p.Pro94=)
c.-98-20916C= (n.-98-20916C=)
n.4944C=
n.4985C=
17g.43071106G>TCA10591904BRCA1c.4805C>A (p.Pro1602His)
c.4808C>A (p.Pro1603His)
c.4682C>A (p.Pro1561His)
c.4802C>A (p.Pro1601His)
c.4730C>A (p.Pro1577His)
c.1496C>A (p.Pro499His)
c.1358C>A (p.Pro453His)
c.3920C>A (p.Pro1307His)
c.4685C>A (p.Pro1562His)
c.4874C>A (p.Pro1625His)
c.4667C>A (p.Pro1556His)
c.1370C>A (p.Pro457His)
c.1415C>A (p.Pro472His)
c.4871C>A (p.Pro1624His)
c.1195C>A
c.1382C>A (p.Pro461His)
c.*4591C>A (n.*4591C>A)
c.1121C>A (p.Pro374His)
c.5-7155C>A (n.5-7155C>A)
c.281C>A (p.Pro94His)
c.-98-20916C>A (n.-98-20916C>A)
n.4944C>A
n.4985C>A
 dbSNP
17g.43071107G>ACA10591905BRCA1c.4804C>T (p.Pro1602Ser)
c.4807C>T (p.Pro1603Ser)
c.4681C>T (p.Pro1561Ser)
c.4801C>T (p.Pro1601Ser)
c.4729C>T (p.Pro1577Ser)
c.1495C>T (p.Pro499Ser)
c.1357C>T (p.Pro453Ser)
c.3919C>T (p.Pro1307Ser)
c.4684C>T (p.Pro1562Ser)
c.4873C>T (p.Pro1625Ser)
c.4666C>T (p.Pro1556Ser)
c.1369C>T (p.Pro457Ser)
c.1414C>T (p.Pro472Ser)
c.4870C>T (p.Pro1624Ser)
c.1194C>T
c.1381C>T (p.Pro461Ser)
c.*4590C>T (n.*4590C>T)
c.1120C>T (p.Pro374Ser)
c.5-7156C>T (n.5-7156C>T)
c.280C>T (p.Pro94Ser)
c.-98-20917C>T (n.-98-20917C>T)
n.4943C>T
n.4984C>T
 dbSNP
17g.43071107G>CCA10591906BRCA1c.4804C>G (p.Pro1602Ala)
c.4807C>G (p.Pro1603Ala)
c.4681C>G (p.Pro1561Ala)
c.4801C>G (p.Pro1601Ala)
c.4729C>G (p.Pro1577Ala)
c.1495C>G (p.Pro499Ala)
c.1357C>G (p.Pro453Ala)
c.3919C>G (p.Pro1307Ala)
c.4684C>G (p.Pro1562Ala)
c.4873C>G (p.Pro1625Ala)
c.4666C>G (p.Pro1556Ala)
c.1369C>G (p.Pro457Ala)
c.1414C>G (p.Pro472Ala)
c.4870C>G (p.Pro1624Ala)
c.1194C>G
c.1381C>G (p.Pro461Ala)
c.*4590C>G (n.*4590C>G)
c.1120C>G (p.Pro374Ala)
c.5-7156C>G (n.5-7156C>G)
c.280C>G (p.Pro94Ala)
c.-98-20917C>G (n.-98-20917C>G)
n.4943C>G
n.4984C>G
 dbSNP
17g.43071107G>TCA10591907BRCA1c.4804C>A (p.Pro1602Thr)
c.4807C>A (p.Pro1603Thr)
c.4681C>A (p.Pro1561Thr)
c.4801C>A (p.Pro1601Thr)
c.4729C>A (p.Pro1577Thr)
c.1495C>A (p.Pro499Thr)
c.1357C>A (p.Pro453Thr)
c.3919C>A (p.Pro1307Thr)
c.4684C>A (p.Pro1562Thr)
c.4873C>A (p.Pro1625Thr)
c.4666C>A (p.Pro1556Thr)
c.1369C>A (p.Pro457Thr)
c.1414C>A (p.Pro472Thr)
c.4870C>A (p.Pro1624Thr)
c.1194C>A
c.1381C>A (p.Pro461Thr)
c.*4590C>A (n.*4590C>A)
c.1120C>A (p.Pro374Thr)
c.5-7156C>A (n.5-7156C>A)
c.280C>A (p.Pro94Thr)
c.-98-20917C>A (n.-98-20917C>A)
n.4943C>A
n.4984C>A
 dbSNP COSMIC COSMIC
17g.43071107_43071108delinsGACA2260772922BRCA1c.4803_4804delinsTC (p.Val1601=)
c.4806_4807delinsTC (p.Val1602=)
c.4680_4681delinsTC (p.Val1560=)
c.4800_4801delinsTC (p.Val1600=)
c.4728_4729delinsTC (p.Val1576=)
c.1494_1495delinsTC (p.Val498=)
c.1356_1357delinsTC (p.Val452=)
c.3918_3919delinsTC (p.Val1306=)
c.4683_4684delinsTC (p.Val1561=)
c.4872_4873delinsTC (p.Val1624=)
c.4665_4666delinsTC (p.Val1555=)
c.1368_1369delinsTC (p.Val456=)
c.1413_1414delinsTC (p.Val471=)
c.4869_4870delinsTC (p.Val1623=)
c.1193_1194delinsTC
c.1380_1381delinsTC (p.Val460=)
c.*4589_*4590delinsTC (n.*4589_*4590delinsTC)
c.1119_1120delinsTC (p.Val373=)
c.5-7157_5-7156delinsTC (n.5-7157_5-7156delinsTC)
c.279_280delinsTC (p.Val93=)
c.-98-20918_-98-20917delinsTC (n.-98-20918_-98-20917delinsTC)
n.4942_4943delinsTC
n.4983_4984delinsTC
17g.43071108A>CCA500231825BRCA1c.4803T>G (p.Val1601=)
c.4806T>G (p.Val1602=)
c.4680T>G (p.Val1560=)
c.4800T>G (p.Val1600=)
c.4728T>G (p.Val1576=)
c.1494T>G (p.Val498=)
c.1356T>G (p.Val452=)
c.3918T>G (p.Val1306=)
c.4683T>G (p.Val1561=)
c.4872T>G (p.Val1624=)
c.4665T>G (p.Val1555=)
c.1368T>G (p.Val456=)
c.1413T>G (p.Val471=)
c.4869T>G (p.Val1623=)
c.1193T>G
c.1380T>G (p.Val460=)
c.*4589T>G (n.*4589T>G)
c.1119T>G (p.Val373=)
c.5-7157T>G (n.5-7157T>G)
c.279T>G (p.Val93=)
c.-98-20918T>G (n.-98-20918T>G)
n.4942T>G
n.4983T>G
 ClinVar dbSNP
17g.43071108A>GCA500231826BRCA1c.4803T>C (p.Val1601=)
c.4806T>C (p.Val1602=)
c.4680T>C (p.Val1560=)
c.4800T>C (p.Val1600=)
c.4728T>C (p.Val1576=)
c.1494T>C (p.Val498=)
c.1356T>C (p.Val452=)
c.3918T>C (p.Val1306=)
c.4683T>C (p.Val1561=)
c.4872T>C (p.Val1624=)
c.4665T>C (p.Val1555=)
c.1368T>C (p.Val456=)
c.1413T>C (p.Val471=)
c.4869T>C (p.Val1623=)
c.1193T>C
c.1380T>C (p.Val460=)
c.*4589T>C (n.*4589T>C)
c.1119T>C (p.Val373=)
c.5-7157T>C (n.5-7157T>C)
c.279T>C (p.Val93=)
c.-98-20918T>C (n.-98-20918T>C)
n.4942T>C
n.4983T>C
17g.43071108A>TCA500231827BRCA1c.4803T>A (p.Val1601=)
c.4806T>A (p.Val1602=)
c.4680T>A (p.Val1560=)
c.4800T>A (p.Val1600=)
c.4728T>A (p.Val1576=)
c.1494T>A (p.Val498=)
c.1356T>A (p.Val452=)
c.3918T>A (p.Val1306=)
c.4683T>A (p.Val1561=)
c.4872T>A (p.Val1624=)
c.4665T>A (p.Val1555=)
c.1368T>A (p.Val456=)
c.1413T>A (p.Val471=)
c.4869T>A (p.Val1623=)
c.1193T>A
c.1380T>A (p.Val460=)
c.*4589T>A (n.*4589T>A)
c.1119T>A (p.Val373=)
c.5-7157T>A (n.5-7157T>A)
c.279T>A (p.Val93=)
c.-98-20918T>A (n.-98-20918T>A)
n.4942T>A
n.4983T>A
 dbSNP
17g.43071109delCA10586607BRCA1c.4803del (p.Gln1603AsnfsTer2)
c.4806del (p.Gln1604AsnfsTer2)
c.4680del (p.Gln1562AsnfsTer2)
c.4800del (p.Gln1602AsnfsTer2)
c.4728del (p.Gln1578AsnfsTer2)
c.1494del (p.Gln500AsnfsTer2)
c.1356del (p.Gln454AsnfsTer2)
c.3918del (p.Gln1308AsnfsTer2)
c.4683del (p.Gln1563AsnfsTer2)
c.4872del (p.Gln1626AsnfsTer2)
c.4665del (p.Gln1557AsnfsTer2)
c.1368del (p.Gln458AsnfsTer2)
c.1413del (p.Gln473AsnfsTer2)
c.4869del (p.Gln1625AsnfsTer2)
c.1193del
c.1380del (p.Gln462AsnfsTer2)
c.*4589del (n.*4589del)
c.1119del (p.Gln375AsnfsTer2)
c.5-7157del (n.5-7157del)
c.279del (p.Gln95AsnfsTer2)
c.-98-20918del (n.-98-20918del)
n.4942del
n.4983del
 ClinVar dbSNP gnomAD v4
17g.43071109A>CCA10591908BRCA1c.4802T>G (p.Val1601Gly)
c.4805T>G (p.Val1602Gly)
c.4679T>G (p.Val1560Gly)
c.4799T>G (p.Val1600Gly)
c.4727T>G (p.Val1576Gly)
c.1493T>G (p.Val498Gly)
c.1355T>G (p.Val452Gly)
c.3917T>G (p.Val1306Gly)
c.4682T>G (p.Val1561Gly)
c.4871T>G (p.Val1624Gly)
c.4664T>G (p.Val1555Gly)
c.1367T>G (p.Val456Gly)
c.1412T>G (p.Val471Gly)
c.4868T>G (p.Val1623Gly)
c.1192T>G
c.1379T>G (p.Val460Gly)
c.*4588T>G (n.*4588T>G)
c.1118T>G (p.Val373Gly)
c.5-7158T>G (n.5-7158T>G)
c.278T>G (p.Val93Gly)
c.-98-20919T>G (n.-98-20919T>G)
n.4941T>G
n.4982T>G
 dbSNP
17g.43071109A>GCA10591909BRCA1c.4802T>C (p.Val1601Ala)
c.4805T>C (p.Val1602Ala)
c.4679T>C (p.Val1560Ala)
c.4799T>C (p.Val1600Ala)
c.4727T>C (p.Val1576Ala)
c.1493T>C (p.Val498Ala)
c.1355T>C (p.Val452Ala)
c.3917T>C (p.Val1306Ala)
c.4682T>C (p.Val1561Ala)
c.4871T>C (p.Val1624Ala)
c.4664T>C (p.Val1555Ala)
c.1367T>C (p.Val456Ala)
c.1412T>C (p.Val471Ala)
c.4868T>C (p.Val1623Ala)
c.1192T>C
c.1379T>C (p.Val460Ala)
c.*4588T>C (n.*4588T>C)
c.1118T>C (p.Val373Ala)
c.5-7158T>C (n.5-7158T>C)
c.278T>C (p.Val93Ala)
c.-98-20919T>C (n.-98-20919T>C)
n.4941T>C
n.4982T>C
 dbSNP
17g.43071109A>TCA10591910BRCA1c.4802T>A (p.Val1601Asp)
c.4805T>A (p.Val1602Asp)
c.4679T>A (p.Val1560Asp)
c.4799T>A (p.Val1600Asp)
c.4727T>A (p.Val1576Asp)
c.1493T>A (p.Val498Asp)
c.1355T>A (p.Val452Asp)
c.3917T>A (p.Val1306Asp)
c.4682T>A (p.Val1561Asp)
c.4871T>A (p.Val1624Asp)
c.4664T>A (p.Val1555Asp)
c.1367T>A (p.Val456Asp)
c.1412T>A (p.Val471Asp)
c.4868T>A (p.Val1623Asp)
c.1192T>A
c.1379T>A (p.Val460Asp)
c.*4588T>A (n.*4588T>A)
c.1118T>A (p.Val373Asp)
c.5-7158T>A (n.5-7158T>A)
c.278T>A (p.Val93Asp)
c.-98-20919T>A (n.-98-20919T>A)
n.4941T>A
n.4982T>A
 dbSNP
17g.43071110C>ACA10591911BRCA1c.4801G>T (p.Val1601Phe)
c.4804G>T (p.Val1602Phe)
c.4678G>T (p.Val1560Phe)
c.4798G>T (p.Val1600Phe)
c.4726G>T (p.Val1576Phe)
c.1492G>T (p.Val498Phe)
c.1354G>T (p.Val452Phe)
c.3916G>T (p.Val1306Phe)
c.4681G>T (p.Val1561Phe)
c.4870G>T (p.Val1624Phe)
c.4663G>T (p.Val1555Phe)
c.1366G>T (p.Val456Phe)
c.1411G>T (p.Val471Phe)
c.4867G>T (p.Val1623Phe)
c.1191G>T
c.1378G>T (p.Val460Phe)
c.*4587G>T (n.*4587G>T)
c.1117G>T (p.Val373Phe)
c.5-7159G>T (n.5-7159G>T)
c.277G>T (p.Val93Phe)
c.-98-20920G>T (n.-98-20920G>T)
n.4940G>T
n.4981G>T
 ClinVar dbSNP
17g.43071110C=CA2260772924BRCA1c.4801G= (p.Val1601=)
c.4804G= (p.Val1602=)
c.4678G= (p.Val1560=)
c.4798G= (p.Val1600=)
c.4726G= (p.Val1576=)
c.1492G= (p.Val498=)
c.1354G= (p.Val452=)
c.3916G= (p.Val1306=)
c.4681G= (p.Val1561=)
c.4870G= (p.Val1624=)
c.4663G= (p.Val1555=)
c.1366G= (p.Val456=)
c.1411G= (p.Val471=)
c.4867G= (p.Val1623=)
c.1191G=
c.1378G= (p.Val460=)
c.*4587G= (n.*4587G=)
c.1117G= (p.Val373=)
c.5-7159G= (n.5-7159G=)
c.277G= (p.Val93=)
c.-98-20920G= (n.-98-20920G=)
n.4940G=
n.4981G=
17g.43071110C>GCA10591912BRCA1c.4801G>C (p.Val1601Leu)
c.4804G>C (p.Val1602Leu)
c.4678G>C (p.Val1560Leu)
c.4798G>C (p.Val1600Leu)
c.4726G>C (p.Val1576Leu)
c.1492G>C (p.Val498Leu)
c.1354G>C (p.Val452Leu)
c.3916G>C (p.Val1306Leu)
c.4681G>C (p.Val1561Leu)
c.4870G>C (p.Val1624Leu)
c.4663G>C (p.Val1555Leu)
c.1366G>C (p.Val456Leu)
c.1411G>C (p.Val471Leu)
c.4867G>C (p.Val1623Leu)
c.1191G>C
c.1378G>C (p.Val460Leu)
c.*4587G>C (n.*4587G>C)
c.1117G>C (p.Val373Leu)
c.5-7159G>C (n.5-7159G>C)
c.277G>C (p.Val93Leu)
c.-98-20920G>C (n.-98-20920G>C)
n.4940G>C
n.4981G>C
 dbSNP
17g.43071110C>TCA10591913BRCA1c.4801G>A (p.Val1601Ile)
c.4804G>A (p.Val1602Ile)
c.4678G>A (p.Val1560Ile)
c.4798G>A (p.Val1600Ile)
c.4726G>A (p.Val1576Ile)
c.1492G>A (p.Val498Ile)
c.1354G>A (p.Val452Ile)
c.3916G>A (p.Val1306Ile)
c.4681G>A (p.Val1561Ile)
c.4870G>A (p.Val1624Ile)
c.4663G>A (p.Val1555Ile)
c.1366G>A (p.Val456Ile)
c.1411G>A (p.Val471Ile)
c.4867G>A (p.Val1623Ile)
c.1191G>A
c.1378G>A (p.Val460Ile)
c.*4587G>A (n.*4587G>A)
c.1117G>A (p.Val373Ile)
c.5-7159G>A (n.5-7159G>A)
c.277G>A (p.Val93Ile)
c.-98-20920G>A (n.-98-20920G>A)
n.4940G>A
n.4981G>A
 dbSNP
17g.43071110_43071111delinsCTCA2260772923BRCA1c.4800_4801delinsAG (p.Lys1600=)
c.4803_4804delinsAG (p.Lys1601=)
c.4677_4678delinsAG (p.Lys1559=)
c.4797_4798delinsAG (p.Lys1599=)
c.4725_4726delinsAG (p.Lys1575=)
c.1491_1492delinsAG (p.Lys497=)
c.1353_1354delinsAG (p.Lys451=)
c.3915_3916delinsAG (p.Lys1305=)
c.4680_4681delinsAG (p.Lys1560=)
c.4869_4870delinsAG (p.Lys1623=)
c.4662_4663delinsAG (p.Lys1554=)
c.1365_1366delinsAG (p.Lys455=)
c.1410_1411delinsAG (p.Lys470=)
c.4866_4867delinsAG (p.Lys1622=)
c.1190_1191delinsAG
c.1377_1378delinsAG (p.Lys459=)
c.*4586_*4587delinsAG (n.*4586_*4587delinsAG)
c.1116_1117delinsAG (p.Lys372=)
c.5-7160_5-7159delinsAG (n.5-7160_5-7159delinsAG)
c.276_277delinsAG (p.Lys92=)
c.-98-20921_-98-20920delinsAG (n.-98-20921_-98-20920delinsAG)
n.4939_4940delinsAG
n.4980_4981delinsAG
17g.43071111T>ACA10591914BRCA1c.4800A>T (p.Lys1600Asn)
c.4803A>T (p.Lys1601Asn)
c.4677A>T (p.Lys1559Asn)
c.4797A>T (p.Lys1599Asn)
c.4725A>T (p.Lys1575Asn)
c.1491A>T (p.Lys497Asn)
c.1353A>T (p.Lys451Asn)
c.3915A>T (p.Lys1305Asn)
c.4680A>T (p.Lys1560Asn)
c.4869A>T (p.Lys1623Asn)
c.4662A>T (p.Lys1554Asn)
c.1365A>T (p.Lys455Asn)
c.1410A>T (p.Lys470Asn)
c.4866A>T (p.Lys1622Asn)
c.1190A>T
c.1377A>T (p.Lys459Asn)
c.*4586A>T (n.*4586A>T)
c.1116A>T (p.Lys372Asn)
c.5-7160A>T (n.5-7160A>T)
c.276A>T (p.Lys92Asn)
c.-98-20921A>T (n.-98-20921A>T)
n.4939A>T
n.4980A>T
 dbSNP
17g.43071111T>CCA10575939BRCA1c.4800A>G (p.Lys1600=)
c.4803A>G (p.Lys1601=)
c.4677A>G (p.Lys1559=)
c.4797A>G (p.Lys1599=)
c.4725A>G (p.Lys1575=)
c.1491A>G (p.Lys497=)
c.1353A>G (p.Lys451=)
c.3915A>G (p.Lys1305=)
c.4680A>G (p.Lys1560=)
c.4869A>G (p.Lys1623=)
c.4662A>G (p.Lys1554=)
c.1365A>G (p.Lys455=)
c.1410A>G (p.Lys470=)
c.4866A>G (p.Lys1622=)
c.1190A>G
c.1377A>G (p.Lys459=)
c.*4586A>G (n.*4586A>G)
c.1116A>G (p.Lys372=)
c.5-7160A>G (n.5-7160A>G)
c.276A>G (p.Lys92=)
c.-98-20921A>G (n.-98-20921A>G)
n.4939A>G
n.4980A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071111T>GCA10591915BRCA1c.4800A>C (p.Lys1600Asn)
c.4803A>C (p.Lys1601Asn)
c.4677A>C (p.Lys1559Asn)
c.4797A>C (p.Lys1599Asn)
c.4725A>C (p.Lys1575Asn)
c.1491A>C (p.Lys497Asn)
c.1353A>C (p.Lys451Asn)
c.3915A>C (p.Lys1305Asn)
c.4680A>C (p.Lys1560Asn)
c.4869A>C (p.Lys1623Asn)
c.4662A>C (p.Lys1554Asn)
c.1365A>C (p.Lys455Asn)
c.1410A>C (p.Lys470Asn)
c.4866A>C (p.Lys1622Asn)
c.1190A>C
c.1377A>C (p.Lys459Asn)
c.*4586A>C (n.*4586A>C)
c.1116A>C (p.Lys372Asn)
c.5-7160A>C (n.5-7160A>C)
c.276A>C (p.Lys92Asn)
c.-98-20921A>C (n.-98-20921A>C)
n.4939A>C
n.4980A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071111T=CA2260772925BRCA1c.4800A= (p.Lys1600=)
c.4803A= (p.Lys1601=)
c.4677A= (p.Lys1559=)
c.4797A= (p.Lys1599=)
c.4725A= (p.Lys1575=)
c.1491A= (p.Lys497=)
c.1353A= (p.Lys451=)
c.3915A= (p.Lys1305=)
c.4680A= (p.Lys1560=)
c.4869A= (p.Lys1623=)
c.4662A= (p.Lys1554=)
c.1365A= (p.Lys455=)
c.1410A= (p.Lys470=)
c.4866A= (p.Lys1622=)
c.1190A=
c.1377A= (p.Lys459=)
c.*4586A= (n.*4586A=)
c.1116A= (p.Lys372=)
c.5-7160A= (n.5-7160A=)
c.276A= (p.Lys92=)
c.-98-20921A= (n.-98-20921A=)
n.4939A=
n.4980A=
17g.43071113delCA658656622BRCA1c.4800del (p.Val1601PhefsTer4)
c.4803del (p.Val1602PhefsTer4)
c.4677del (p.Val1560PhefsTer4)
c.4797del (p.Val1600PhefsTer4)
c.4725del (p.Val1576PhefsTer4)
c.1491del (p.Val498PhefsTer4)
c.1353del (p.Val452PhefsTer4)
c.3915del (p.Val1306PhefsTer4)
c.4680del (p.Val1561PhefsTer4)
c.4869del (p.Val1624PhefsTer4)
c.4662del (p.Val1555PhefsTer4)
c.1365del (p.Val456PhefsTer4)
c.1410del (p.Val471PhefsTer4)
c.4866del (p.Val1623PhefsTer4)
c.1190del
c.1377del (p.Val460PhefsTer4)
c.*4586del (n.*4586del)
c.1116del (p.Val373PhefsTer4)
c.5-7160del (n.5-7160del)
c.276del (p.Val93PhefsTer4)
c.-98-20921del (n.-98-20921del)
n.4939del
n.4980del
 ClinVar dbSNP
17g.43071112T>ACA10591916BRCA1c.4799A>T (p.Lys1600Ile)
c.4802A>T (p.Lys1601Ile)
c.4676A>T (p.Lys1559Ile)
c.4796A>T (p.Lys1599Ile)
c.4724A>T (p.Lys1575Ile)
c.1490A>T (p.Lys497Ile)
c.1352A>T (p.Lys451Ile)
c.3914A>T (p.Lys1305Ile)
c.4679A>T (p.Lys1560Ile)
c.4868A>T (p.Lys1623Ile)
c.4661A>T (p.Lys1554Ile)
c.1364A>T (p.Lys455Ile)
c.1409A>T (p.Lys470Ile)
c.4865A>T (p.Lys1622Ile)
c.1189A>T
c.1376A>T (p.Lys459Ile)
c.*4585A>T (n.*4585A>T)
c.1115A>T (p.Lys372Ile)
c.5-7161A>T (n.5-7161A>T)
c.275A>T (p.Lys92Ile)
c.-98-20922A>T (n.-98-20922A>T)
n.4938A>T
n.4979A>T
 dbSNP
17g.43071112T>CCA10591917BRCA1c.4799A>G (p.Lys1600Arg)
c.4802A>G (p.Lys1601Arg)
c.4676A>G (p.Lys1559Arg)
c.4796A>G (p.Lys1599Arg)
c.4724A>G (p.Lys1575Arg)
c.1490A>G (p.Lys497Arg)
c.1352A>G (p.Lys451Arg)
c.3914A>G (p.Lys1305Arg)
c.4679A>G (p.Lys1560Arg)
c.4868A>G (p.Lys1623Arg)
c.4661A>G (p.Lys1554Arg)
c.1364A>G (p.Lys455Arg)
c.1409A>G (p.Lys470Arg)
c.4865A>G (p.Lys1622Arg)
c.1189A>G
c.1376A>G (p.Lys459Arg)
c.*4585A>G (n.*4585A>G)
c.1115A>G (p.Lys372Arg)
c.5-7161A>G (n.5-7161A>G)
c.275A>G (p.Lys92Arg)
c.-98-20922A>G (n.-98-20922A>G)
n.4938A>G
n.4979A>G
 ClinVar
17g.43071112T>GCA10591918BRCA1c.4799A>C (p.Lys1600Thr)
c.4802A>C (p.Lys1601Thr)
c.4676A>C (p.Lys1559Thr)
c.4796A>C (p.Lys1599Thr)
c.4724A>C (p.Lys1575Thr)
c.1490A>C (p.Lys497Thr)
c.1352A>C (p.Lys451Thr)
c.3914A>C (p.Lys1305Thr)
c.4679A>C (p.Lys1560Thr)
c.4868A>C (p.Lys1623Thr)
c.4661A>C (p.Lys1554Thr)
c.1364A>C (p.Lys455Thr)
c.1409A>C (p.Lys470Thr)
c.4865A>C (p.Lys1622Thr)
c.1189A>C
c.1376A>C (p.Lys459Thr)
c.*4585A>C (n.*4585A>C)
c.1115A>C (p.Lys372Thr)
c.5-7161A>C (n.5-7161A>C)
c.275A>C (p.Lys92Thr)
c.-98-20922A>C (n.-98-20922A>C)
n.4938A>C
n.4979A>C
17g.43071113T>ACA003028BRCA1c.4798A>T (p.Lys1600Ter)
c.4801A>T (p.Lys1601Ter)
c.4675A>T (p.Lys1559Ter)
c.4795A>T (p.Lys1599Ter)
c.4723A>T (p.Lys1575Ter)
c.1489A>T (p.Lys497Ter)
c.1351A>T (p.Lys451Ter)
c.3913A>T (p.Lys1305Ter)
c.4678A>T (p.Lys1560Ter)
c.4867A>T (p.Lys1623Ter)
c.4660A>T (p.Lys1554Ter)
c.1363A>T (p.Lys455Ter)
c.1408A>T (p.Lys470Ter)
c.4864A>T (p.Lys1622Ter)
c.1188A>T
c.1375A>T (p.Lys459Ter)
c.*4584A>T (n.*4584A>T)
c.1114A>T (p.Lys372Ter)
c.5-7162A>T (n.5-7162A>T)
c.274A>T (p.Lys92Ter)
c.-98-20923A>T (n.-98-20923A>T)
n.4937A>T
n.4978A>T
 ClinVar dbSNP
17g.43071113T>CCA10591919BRCA1c.4798A>G (p.Lys1600Glu)
c.4801A>G (p.Lys1601Glu)
c.4675A>G (p.Lys1559Glu)
c.4795A>G (p.Lys1599Glu)
c.4723A>G (p.Lys1575Glu)
c.1489A>G (p.Lys497Glu)
c.1351A>G (p.Lys451Glu)
c.3913A>G (p.Lys1305Glu)
c.4678A>G (p.Lys1560Glu)
c.4867A>G (p.Lys1623Glu)
c.4660A>G (p.Lys1554Glu)
c.1363A>G (p.Lys455Glu)
c.1408A>G (p.Lys470Glu)
c.4864A>G (p.Lys1622Glu)
c.1188A>G
c.1375A>G (p.Lys459Glu)
c.*4584A>G (n.*4584A>G)
c.1114A>G (p.Lys372Glu)
c.5-7162A>G (n.5-7162A>G)
c.274A>G (p.Lys92Glu)
c.-98-20923A>G (n.-98-20923A>G)
n.4937A>G
n.4978A>G
17g.43071113T>GCA053263BRCA1c.4798A>C (p.Lys1600Gln)
c.4801A>C (p.Lys1601Gln)
c.4675A>C (p.Lys1559Gln)
c.4795A>C (p.Lys1599Gln)
c.4723A>C (p.Lys1575Gln)
c.1489A>C (p.Lys497Gln)
c.1351A>C (p.Lys451Gln)
c.3913A>C (p.Lys1305Gln)
c.4678A>C (p.Lys1560Gln)
c.4867A>C (p.Lys1623Gln)
c.4660A>C (p.Lys1554Gln)
c.1363A>C (p.Lys455Gln)
c.1408A>C (p.Lys470Gln)
c.4864A>C (p.Lys1622Gln)
c.1188A>C
c.1375A>C (p.Lys459Gln)
c.*4584A>C (n.*4584A>C)
c.1114A>C (p.Lys372Gln)
c.5-7162A>C (n.5-7162A>C)
c.274A>C (p.Lys92Gln)
c.-98-20923A>C (n.-98-20923A>C)
n.4937A>C
n.4978A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071113T=CA2260772926BRCA1c.4798A= (p.Lys1600=)
c.4801A= (p.Lys1601=)
c.4675A= (p.Lys1559=)
c.4795A= (p.Lys1599=)
c.4723A= (p.Lys1575=)
c.1489A= (p.Lys497=)
c.1351A= (p.Lys451=)
c.3913A= (p.Lys1305=)
c.4678A= (p.Lys1560=)
c.4867A= (p.Lys1623=)
c.4660A= (p.Lys1554=)
c.1363A= (p.Lys455=)
c.1408A= (p.Lys470=)
c.4864A= (p.Lys1622=)
c.1188A=
c.1375A= (p.Lys459=)
c.*4584A= (n.*4584A=)
c.1114A= (p.Lys372=)
c.5-7162A= (n.5-7162A=)
c.274A= (p.Lys92=)
c.-98-20923A= (n.-98-20923A=)
n.4937A=
n.4978A=
17g.43071113_43071114delinsTCCA2260772927BRCA1c.4797_4798delinsGA (p.Leu1599=)
c.4800_4801delinsGA (p.Leu1600=)
c.4674_4675delinsGA (p.Leu1558=)
c.4794_4795delinsGA (p.Leu1598=)
c.4722_4723delinsGA (p.Leu1574=)
c.1488_1489delinsGA (p.Leu496=)
c.1350_1351delinsGA (p.Leu450=)
c.3912_3913delinsGA (p.Leu1304=)
c.4677_4678delinsGA (p.Leu1559=)
c.4866_4867delinsGA (p.Leu1622=)
c.4659_4660delinsGA (p.Leu1553=)
c.1362_1363delinsGA (p.Leu454=)
c.1407_1408delinsGA (p.Leu469=)
c.4863_4864delinsGA (p.Leu1621=)
c.1187_1188delinsGA
c.1374_1375delinsGA (p.Leu458=)
c.*4583_*4584delinsGA (n.*4583_*4584delinsGA)
c.1113_1114delinsGA (p.Leu371=)
c.5-7163_5-7162delinsGA (n.5-7163_5-7162delinsGA)
c.273_274delinsGA (p.Leu91=)
c.-98-20924_-98-20923delinsGA (n.-98-20924_-98-20923delinsGA)
n.4936_4937delinsGA
n.4977_4978delinsGA
17g.43071114delCA919844205BRCA1c.4797del (p.Val1601PhefsTer4)
c.4800del (p.Val1602PhefsTer4)
c.4674del (p.Val1560PhefsTer4)
c.4794del (p.Val1600PhefsTer4)
c.4722del (p.Val1576PhefsTer4)
c.1488del (p.Val498PhefsTer4)
c.1350del (p.Val452PhefsTer4)
c.3912del (p.Val1306PhefsTer4)
c.4677del (p.Val1561PhefsTer4)
c.4866del (p.Val1624PhefsTer4)
c.4659del (p.Val1555PhefsTer4)
c.1362del (p.Val456PhefsTer4)
c.1407del (p.Val471PhefsTer4)
c.4863del (p.Val1623PhefsTer4)
c.1187del
c.1374del (p.Val460PhefsTer4)
c.*4583del (n.*4583del)
c.1113del (p.Val373PhefsTer4)
c.5-7163del (n.5-7163del)
c.273del (p.Val93PhefsTer4)
c.-98-20924del (n.-98-20924del)
n.4936del
n.4977del
 dbSNP
17g.43071114C>ACA10591920BRCA1c.4797G>T (p.Leu1599Phe)
c.4800G>T (p.Leu1600Phe)
c.4674G>T (p.Leu1558Phe)
c.4794G>T (p.Leu1598Phe)
c.4722G>T (p.Leu1574Phe)
c.1488G>T (p.Leu496Phe)
c.1350G>T (p.Leu450Phe)
c.3912G>T (p.Leu1304Phe)
c.4677G>T (p.Leu1559Phe)
c.4866G>T (p.Leu1622Phe)
c.4659G>T (p.Leu1553Phe)
c.1362G>T (p.Leu454Phe)
c.1407G>T (p.Leu469Phe)
c.4863G>T (p.Leu1621Phe)
c.1187G>T
c.1374G>T (p.Leu458Phe)
c.*4583G>T (n.*4583G>T)
c.1113G>T (p.Leu371Phe)
c.5-7163G>T (n.5-7163G>T)
c.273G>T (p.Leu91Phe)
c.-98-20924G>T (n.-98-20924G>T)
n.4936G>T
n.4977G>T
 dbSNP
17g.43071114C=CA2260772928BRCA1c.4797G= (p.Leu1599=)
c.4800G= (p.Leu1600=)
c.4674G= (p.Leu1558=)
c.4794G= (p.Leu1598=)
c.4722G= (p.Leu1574=)
c.1488G= (p.Leu496=)
c.1350G= (p.Leu450=)
c.3912G= (p.Leu1304=)
c.4677G= (p.Leu1559=)
c.4866G= (p.Leu1622=)
c.4659G= (p.Leu1553=)
c.1362G= (p.Leu454=)
c.1407G= (p.Leu469=)
c.4863G= (p.Leu1621=)
c.1187G=
c.1374G= (p.Leu458=)
c.*4583G= (n.*4583G=)
c.1113G= (p.Leu371=)
c.5-7163G= (n.5-7163G=)
c.273G= (p.Leu91=)
c.-98-20924G= (n.-98-20924G=)
n.4936G=
n.4977G=
17g.43071114C>GCA10591921BRCA1c.4797G>C (p.Leu1599Phe)
c.4800G>C (p.Leu1600Phe)
c.4674G>C (p.Leu1558Phe)
c.4794G>C (p.Leu1598Phe)
c.4722G>C (p.Leu1574Phe)
c.1488G>C (p.Leu496Phe)
c.1350G>C (p.Leu450Phe)
c.3912G>C (p.Leu1304Phe)
c.4677G>C (p.Leu1559Phe)
c.4866G>C (p.Leu1622Phe)
c.4659G>C (p.Leu1553Phe)
c.1362G>C (p.Leu454Phe)
c.1407G>C (p.Leu469Phe)
c.4863G>C (p.Leu1621Phe)
c.1187G>C
c.1374G>C (p.Leu458Phe)
c.*4583G>C (n.*4583G>C)
c.1113G>C (p.Leu371Phe)
c.5-7163G>C (n.5-7163G>C)
c.273G>C (p.Leu91Phe)
c.-98-20924G>C (n.-98-20924G>C)
n.4936G>C
n.4977G>C
 dbSNP
17g.43071114C>TCA500231828BRCA1c.4797G>A (p.Leu1599=)
c.4800G>A (p.Leu1600=)
c.4674G>A (p.Leu1558=)
c.4794G>A (p.Leu1598=)
c.4722G>A (p.Leu1574=)
c.1488G>A (p.Leu496=)
c.1350G>A (p.Leu450=)
c.3912G>A (p.Leu1304=)
c.4677G>A (p.Leu1559=)
c.4866G>A (p.Leu1622=)
c.4659G>A (p.Leu1553=)
c.1362G>A (p.Leu454=)
c.1407G>A (p.Leu469=)
c.4863G>A (p.Leu1621=)
c.1187G>A
c.1374G>A (p.Leu458=)
c.*4583G>A (n.*4583G>A)
c.1113G>A (p.Leu371=)
c.5-7163G>A (n.5-7163G>A)
c.273G>A (p.Leu91=)
c.-98-20924G>A (n.-98-20924G>A)
n.4936G>A
n.4977G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43071115A>CCA10591922BRCA1c.4796T>G (p.Leu1599Trp)
c.4799T>G (p.Leu1600Trp)
c.4673T>G (p.Leu1558Trp)
c.4793T>G (p.Leu1598Trp)
c.4721T>G (p.Leu1574Trp)
c.1487T>G (p.Leu496Trp)
c.1349T>G (p.Leu450Trp)
c.3911T>G (p.Leu1304Trp)
c.4676T>G (p.Leu1559Trp)
c.4865T>G (p.Leu1622Trp)
c.4658T>G (p.Leu1553Trp)
c.1361T>G (p.Leu454Trp)
c.1406T>G (p.Leu469Trp)
c.4862T>G (p.Leu1621Trp)
c.1186T>G
c.1373T>G (p.Leu458Trp)
c.*4582T>G (n.*4582T>G)
c.1112T>G (p.Leu371Trp)
c.5-7164T>G (n.5-7164T>G)
c.272T>G (p.Leu91Trp)
c.-98-20925T>G (n.-98-20925T>G)
n.4935T>G
n.4976T>G
 dbSNP
17g.43071115A>GCA10591923BRCA1c.4796T>C (p.Leu1599Ser)
c.4799T>C (p.Leu1600Ser)
c.4673T>C (p.Leu1558Ser)
c.4793T>C (p.Leu1598Ser)
c.4721T>C (p.Leu1574Ser)
c.1487T>C (p.Leu496Ser)
c.1349T>C (p.Leu450Ser)
c.3911T>C (p.Leu1304Ser)
c.4676T>C (p.Leu1559Ser)
c.4865T>C (p.Leu1622Ser)
c.4658T>C (p.Leu1553Ser)
c.1361T>C (p.Leu454Ser)
c.1406T>C (p.Leu469Ser)
c.4862T>C (p.Leu1621Ser)
c.1186T>C
c.1373T>C (p.Leu458Ser)
c.*4582T>C (n.*4582T>C)
c.1112T>C (p.Leu371Ser)
c.5-7164T>C (n.5-7164T>C)
c.272T>C (p.Leu91Ser)
c.-98-20925T>C (n.-98-20925T>C)
n.4935T>C
n.4976T>C
 dbSNP
17g.43071115A>TCA10591924BRCA1c.4796T>A (p.Leu1599Ter)
c.4799T>A (p.Leu1600Ter)
c.4673T>A (p.Leu1558Ter)
c.4793T>A (p.Leu1598Ter)
c.4721T>A (p.Leu1574Ter)
c.1487T>A (p.Leu496Ter)
c.1349T>A (p.Leu450Ter)
c.3911T>A (p.Leu1304Ter)
c.4676T>A (p.Leu1559Ter)
c.4865T>A (p.Leu1622Ter)
c.4658T>A (p.Leu1553Ter)
c.1361T>A (p.Leu454Ter)
c.1406T>A (p.Leu469Ter)
c.4862T>A (p.Leu1621Ter)
c.1186T>A
c.1373T>A (p.Leu458Ter)
c.*4582T>A (n.*4582T>A)
c.1112T>A (p.Leu371Ter)
c.5-7164T>A (n.5-7164T>A)
c.272T>A (p.Leu91Ter)
c.-98-20925T>A (n.-98-20925T>A)
n.4935T>A
n.4976T>A
 dbSNP
17g.43071116dupCA003027BRCA1c.4796dup (p.Leu1599PhefsTer22)
c.4799dup (p.Leu1600PhefsTer22)
c.4673dup (p.Leu1558PhefsTer22)
c.4793dup (p.Leu1598PhefsTer22)
c.4721dup (p.Leu1574PhefsTer22)
c.1487dup (p.Leu496PhefsTer22)
c.1349dup (p.Leu450PhefsTer22)
c.3911dup (p.Leu1304PhefsTer22)
c.4676dup (p.Leu1559PhefsTer22)
c.4865dup (p.Leu1622PhefsTer22)
c.4658dup (p.Leu1553PhefsTer22)
c.1361dup (p.Leu454PhefsTer22)
c.1406dup (p.Leu469PhefsTer22)
c.4862dup (p.Leu1621PhefsTer22)
c.1186dup
c.1373dup (p.Leu458PhefsTer22)
c.*4582dup (n.*4582dup)
c.1112dup (p.Leu371PhefsTer22)
c.5-7164dup (n.5-7164dup)
c.272dup (p.Leu91PhefsTer22)
c.-98-20925dup (n.-98-20925dup)
n.4935dup
n.4976dup
 ClinVar dbSNP
17g.43071116delCA2499224396BRCA1c.4796del (p.Leu1599Ter)
c.4799del (p.Leu1600Ter)
c.4673del (p.Leu1558Ter)
c.4793del (p.Leu1598Ter)
c.4721del (p.Leu1574Ter)
c.1487del (p.Leu496Ter)
c.1349del (p.Leu450Ter)
c.3911del (p.Leu1304Ter)
c.4676del (p.Leu1559Ter)
c.4865del (p.Leu1622Ter)
c.4658del (p.Leu1553Ter)
c.1361del (p.Leu454Ter)
c.1406del (p.Leu469Ter)
c.4862del (p.Leu1621Ter)
c.1186del
c.1373del (p.Leu458Ter)
c.*4582del (n.*4582del)
c.1112del (p.Leu371Ter)
c.5-7164del (n.5-7164del)
c.272del (p.Leu91Ter)
c.-98-20925del (n.-98-20925del)
n.4935del
n.4976del
 ClinVar dbSNP
17g.43071116A=CA2260772929BRCA1c.4795T= (p.Leu1599=)
c.4798T= (p.Leu1600=)
c.4672T= (p.Leu1558=)
c.4792T= (p.Leu1598=)
c.4720T= (p.Leu1574=)
c.1486T= (p.Leu496=)
c.1348T= (p.Leu450=)
c.3910T= (p.Leu1304=)
c.4675T= (p.Leu1559=)
c.4864T= (p.Leu1622=)
c.4657T= (p.Leu1553=)
c.1360T= (p.Leu454=)
c.1405T= (p.Leu469=)
c.4861T= (p.Leu1621=)
c.1185T=
c.1372T= (p.Leu458=)
c.*4581T= (n.*4581T=)
c.1111T= (p.Leu371=)
c.5-7165T= (n.5-7165T=)
c.271T= (p.Leu91=)
c.-98-20926T= (n.-98-20926T=)
n.4934T=
n.4975T=
17g.43071116A>CCA10591925BRCA1c.4795T>G (p.Leu1599Val)
c.4798T>G (p.Leu1600Val)
c.4672T>G (p.Leu1558Val)
c.4792T>G (p.Leu1598Val)
c.4720T>G (p.Leu1574Val)
c.1486T>G (p.Leu496Val)
c.1348T>G (p.Leu450Val)
c.3910T>G (p.Leu1304Val)
c.4675T>G (p.Leu1559Val)
c.4864T>G (p.Leu1622Val)
c.4657T>G (p.Leu1553Val)
c.1360T>G (p.Leu454Val)
c.1405T>G (p.Leu469Val)
c.4861T>G (p.Leu1621Val)
c.1185T>G
c.1372T>G (p.Leu458Val)
c.*4581T>G (n.*4581T>G)
c.1111T>G (p.Leu371Val)
c.5-7165T>G (n.5-7165T>G)
c.271T>G (p.Leu91Val)
c.-98-20926T>G (n.-98-20926T>G)
n.4934T>G
n.4975T>G
17g.43071116A>GCA053253BRCA1c.4795T>C (p.Leu1599=)
c.4798T>C (p.Leu1600=)
c.4672T>C (p.Leu1558=)
c.4792T>C (p.Leu1598=)
c.4720T>C (p.Leu1574=)
c.1486T>C (p.Leu496=)
c.1348T>C (p.Leu450=)
c.3910T>C (p.Leu1304=)
c.4675T>C (p.Leu1559=)
c.4864T>C (p.Leu1622=)
c.4657T>C (p.Leu1553=)
c.1360T>C (p.Leu454=)
c.1405T>C (p.Leu469=)
c.4861T>C (p.Leu1621=)
c.1185T>C
c.1372T>C (p.Leu458=)
c.*4581T>C (n.*4581T>C)
c.1111T>C (p.Leu371=)
c.5-7165T>C (n.5-7165T>C)
c.271T>C (p.Leu91=)
c.-98-20926T>C (n.-98-20926T>C)
n.4934T>C
n.4975T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071116A>TCA10591926BRCA1c.4795T>A (p.Leu1599Met)
c.4798T>A (p.Leu1600Met)
c.4672T>A (p.Leu1558Met)
c.4792T>A (p.Leu1598Met)
c.4720T>A (p.Leu1574Met)
c.1486T>A (p.Leu496Met)
c.1348T>A (p.Leu450Met)
c.3910T>A (p.Leu1304Met)
c.4675T>A (p.Leu1559Met)
c.4864T>A (p.Leu1622Met)
c.4657T>A (p.Leu1553Met)
c.1360T>A (p.Leu454Met)
c.1405T>A (p.Leu469Met)
c.4861T>A (p.Leu1621Met)
c.1185T>A
c.1372T>A (p.Leu458Met)
c.*4581T>A (n.*4581T>A)
c.1111T>A (p.Leu371Met)
c.5-7165T>A (n.5-7165T>A)
c.271T>A (p.Leu91Met)
c.-98-20926T>A (n.-98-20926T>A)
n.4934T>A
n.4975T>A
 dbSNP
17g.43071117T>ACA500231829BRCA1c.4794A>T (p.Ala1598=)
c.4797A>T (p.Ala1599=)
c.4671A>T (p.Ala1557=)
c.4791A>T (p.Ala1597=)
c.4719A>T (p.Ala1573=)
c.1485A>T (p.Ala495=)
c.1347A>T (p.Ala449=)
c.3909A>T (p.Ala1303=)
c.4674A>T (p.Ala1558=)
c.4863A>T (p.Ala1621=)
c.4656A>T (p.Ala1552=)
c.1359A>T (p.Ala453=)
c.1404A>T (p.Ala468=)
c.4860A>T (p.Ala1620=)
c.1184A>T
c.1371A>T (p.Ala457=)
c.*4580A>T (n.*4580A>T)
c.1110A>T (p.Ala370=)
c.5-7166A>T (n.5-7166A>T)
c.270A>T (p.Ala90=)
c.-98-20927A>T (n.-98-20927A>T)
n.4933A>T
n.4974A>T
 dbSNP
17g.43071117T>CCA290831752BRCA1c.4794A>G (p.Ala1598=)
c.4797A>G (p.Ala1599=)
c.4671A>G (p.Ala1557=)
c.4791A>G (p.Ala1597=)
c.4719A>G (p.Ala1573=)
c.1485A>G (p.Ala495=)
c.1347A>G (p.Ala449=)
c.3909A>G (p.Ala1303=)
c.4674A>G (p.Ala1558=)
c.4863A>G (p.Ala1621=)
c.4656A>G (p.Ala1552=)
c.1359A>G (p.Ala453=)
c.1404A>G (p.Ala468=)
c.4860A>G (p.Ala1620=)
c.1184A>G
c.1371A>G (p.Ala457=)
c.*4580A>G (n.*4580A>G)
c.1110A>G (p.Ala370=)
c.5-7166A>G (n.5-7166A>G)
c.270A>G (p.Ala90=)
c.-98-20927A>G (n.-98-20927A>G)
n.4933A>G
n.4974A>G
 ClinVar dbSNP gnomAD v4
17g.43071117T>GCA500231830BRCA1c.4794A>C (p.Ala1598=)
c.4797A>C (p.Ala1599=)
c.4671A>C (p.Ala1557=)
c.4791A>C (p.Ala1597=)
c.4719A>C (p.Ala1573=)
c.1485A>C (p.Ala495=)
c.1347A>C (p.Ala449=)
c.3909A>C (p.Ala1303=)
c.4674A>C (p.Ala1558=)
c.4863A>C (p.Ala1621=)
c.4656A>C (p.Ala1552=)
c.1359A>C (p.Ala453=)
c.1404A>C (p.Ala468=)
c.4860A>C (p.Ala1620=)
c.1184A>C
c.1371A>C (p.Ala457=)
c.*4580A>C (n.*4580A>C)
c.1110A>C (p.Ala370=)
c.5-7166A>C (n.5-7166A>C)
c.270A>C (p.Ala90=)
c.-98-20927A>C (n.-98-20927A>C)
n.4933A>C
n.4974A>C
 ClinVar
17g.43071117T=CA2260772930BRCA1c.4794A= (p.Ala1598=)
c.4797A= (p.Ala1599=)
c.4671A= (p.Ala1557=)
c.4791A= (p.Ala1597=)
c.4719A= (p.Ala1573=)
c.1485A= (p.Ala495=)
c.1347A= (p.Ala449=)
c.3909A= (p.Ala1303=)
c.4674A= (p.Ala1558=)
c.4863A= (p.Ala1621=)
c.4656A= (p.Ala1552=)
c.1359A= (p.Ala453=)
c.1404A= (p.Ala468=)
c.4860A= (p.Ala1620=)
c.1184A=
c.1371A= (p.Ala457=)
c.*4580A= (n.*4580A=)
c.1110A= (p.Ala370=)
c.5-7166A= (n.5-7166A=)
c.270A= (p.Ala90=)
c.-98-20927A= (n.-98-20927A=)
n.4933A=
n.4974A=

Number of alleles fetched