Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43084852_43094147delCA645369660BRCA1c.1385_4186-2276del
c.1259_4060-2276del
c.1382_4183-2279del
c.1307_4108-2276del
c.784+598_874-2276del
c.646+598_736-2276del
c.497_3298-2276del
c.1262_4063-2276del
c.1244_4045-2276del
c.664+598_754-2279del
c.706+598_796-2276del
c.670+1700_760-2276del
c.*1168_*3969-2276del
c.787+598_877-2276del
c.409+598_499-2276del
c.412+598_502-2276del
c.5-30195_5-20900del (n.5-30195_5-20900del)
c.-43-19625_-43-10330del (n.-43-19625_-43-10330del)
c.-99+31125_-98-34661del (n.-99+31125_-98-34661del)
n.1521_4322-2276del
n.1562_4363-2276del
 ClinVar
17g.43090942_43094828delCA2499224437BRCA1c.705_4185+4del
c.579_4059+4del
c.702_4182+4del
c.627_4107+4del
c.702_873+4del
c.564_735+4del
c.-184_3297+4del
c.582_4062+4del
c.564_4044+4del
c.582_753+4del
c.624_795+4del
c.670+1020_759+4del
c.*488_*3968+4del
c.705_876+4del
c.327_498+4del
c.330_501+4del
c.4+30356_5-26989del (n.4+30356_5-26989del)
c.-43-20305_-43-16419del (n.-43-20305_-43-16419del)
c.-99+30445_-99+34331del (n.-99+30445_-99+34331del)
n.841_4321+4del
n.882_4362+4del
 ClinVar
17g.43090946_43097291delCA2580061395BRCA1c.549_4185+1del
c.545-2428_4059+1del
c.546_4182+1del
c.471_4107+1del
c.546_873+1del
c.408_735+1del
c.-218-2428_3297+1del
c.548-2428_4062+1del
c.408_4044+1del
c.548-2428_753+1del
c.468_795+1del
c.549_759+1del
c.*332_*3968+1del
c.549_876+1del
c.293-2428_498+1del
c.296-2428_501+1del
c.4+27894_5-26992del (n.4+27894_5-26992del)
c.-43-22767_-43-16422del (n.-43-22767_-43-16422del)
c.-99+27983_-99+34328del (n.-99+27983_-99+34328del)
n.685_4321+1del
n.726_4362+1del
 ClinVar
17g.43091435_43094858dupCA2579756134BRCA1n.738_4161dup
c.674_4096+1dup
c.548_3970+1dup
c.671_4093+1dup
c.596_4018+1dup
c.671_785-402dup
c.533_647-402dup
c.-215_3208+1dup
c.551_3973+1dup
c.533_3955+1dup
c.551_665-402dup
c.593_707-402dup
c.670+989_671-402dup (n.670+989_671-402dup)
c.674_4097dup (p.Ile1367LeufsTer2)
c.*457_*3879+1dup
c.674_788-402dup
c.296_410-402dup
c.299_413-402dup
c.4+30325_5-27483dup (n.4+30325_5-27483dup)
c.-43-20336_-43-16913dup (n.-43-20336_-43-16913dup)
c.-99+30414_-99+33837dup (n.-99+30414_-99+33837dup)
n.810_4232+1dup
n.851_4273+1dup
17g.43091435_43094859dupCA2579756133BRCA1n.736_4160dup
c.672_4096dup (p.Gly1366ValfsTer10)
c.546_3970dup (p.Gly1324ValfsTer10)
c.669_4093dup (p.Gly1365ValfsTer10)
c.594_4018dup (p.Gly1340ValfsTer10)
c.669_785-403dup
c.531_647-403dup
c.-217_3208dup (p.Gly1070ValfsTer10)
c.549_3973dup (p.Gly1325ValfsTer10)
c.531_3955dup (p.Gly1319ValfsTer10)
c.549_665-403dup
c.591_707-403dup
c.670+987_671-403dup (n.670+987_671-403dup)
c.*455_*3879dup (n.*455_*3879dup)
c.672_788-403dup
c.294_410-403dup
c.297_413-403dup
c.4+30323_5-27484dup (n.4+30323_5-27484dup)
c.-43-20338_-43-16914dup (n.-43-20338_-43-16914dup)
c.-99+30412_-99+33836dup (n.-99+30412_-99+33836dup)
n.808_4232dup
n.849_4273dup
17g.43091437_43094862delCA2580618251BRCA1n.735_4160del
c.671_4096del
c.545_3970del
c.668_4093del
c.593_4018del
c.668_785-403del
c.530_647-403del
c.-218_3208del
c.548_3973del
c.530_3955del
c.548_665-403del
c.590_707-403del
c.670+986_671-403del (n.670+986_671-403del)
c.*454_*3879del
c.671_788-403del
c.293_410-403del
c.296_413-403del
c.4+30322_5-27484del (n.4+30322_5-27484del)
c.-43-20339_-43-16914del (n.-43-20339_-43-16914del)
c.-99+30411_-99+33836del (n.-99+30411_-99+33836del)
n.807_4232del
n.848_4273del
17g.43091633_43094861delCA2580618250BRCA1n.736_3964del
c.672_3900del
c.546_3774del
c.669_3897del
c.594_3822del
c.669_785-599del
c.531_647-599del
c.-217_3012del
c.549_3777del
c.531_3759del
c.549_665-599del
c.591_707-599del
c.670+987_671-599del (n.670+987_671-599del)
c.*455_*3683del
c.672_788-599del
c.294_410-599del
c.297_413-599del
c.4+30323_5-27680del (n.4+30323_5-27680del)
c.-43-20338_-43-17110del (n.-43-20338_-43-17110del)
c.-99+30412_-99+33640del (n.-99+30412_-99+33640del)
n.808_4036del
n.849_4077del
17g.43093482_43093729delCA2695226251BRCA1n.1866_2113del
c.1802_2049del (p.His601ProfsTer3)
c.1676_1923del (p.His559ProfsTer3)
c.1799_2046del (p.His600ProfsTer3)
c.1724_1971del (p.His575ProfsTer3)
c.784+1015_784+1262del (n.784+1015_784+1262del)
c.646+1015_646+1262del (n.646+1015_646+1262del)
c.914_1161del (p.His305ProfsTer3)
c.1679_1926del (p.His560ProfsTer3)
c.1661_1908del (p.His554ProfsTer3)
c.664+1015_664+1262del (n.664+1015_664+1262del)
c.706+1015_706+1262del (n.706+1015_706+1262del)
c.670+2117_670+2364del (n.670+2117_670+2364del)
c.*1585_*1832del (n.*1585_*1832del)
c.787+1015_787+1262del (n.787+1015_787+1262del)
c.409+1015_409+1262del (n.409+1015_409+1262del)
c.412+1015_412+1262del (n.412+1015_412+1262del)
c.5-29778_5-29531del (n.5-29778_5-29531del)
c.-43-19208_-43-18961del (n.-43-19208_-43-18961del)
c.-99+31542_-99+31789del (n.-99+31542_-99+31789del)
n.1938_2185del
n.1979_2226del
17g.43093670_43093883delinsGAATATGCCTGGTAGAAGACTTCCTCCTCAGCCTATTCTTTTTAGGTGCTTTTGAATTGTGGATATTTAATTCGAGTTCCATATTGCTTATACTGCTGCTTATAGGTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTTTCTCATTCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTCA2260784207BRCA1n.1712_1925delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC
c.1648_1861delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn550=)
c.1522_1735delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn508=)
c.1645_1858delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn549=)
c.1570_1783delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn524=)
c.784+861_784+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.784+861_784+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.646+861_646+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.646+861_646+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.760_973delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn254=)
c.1525_1738delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn509=)
c.1507_1720delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn503=)
c.664+861_664+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.664+861_664+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.706+861_706+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.706+861_706+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.670+1963_670+2176delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.670+1963_670+2176delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.999_1212delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC
c.*1431_*1644delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.*1431_*1644delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.787+861_787+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.787+861_787+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.409+861_409+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.409+861_409+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.412+861_412+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.412+861_412+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.5-29932_5-29719delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.5-29932_5-29719delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.-43-19362_-43-19149delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.-43-19362_-43-19149delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
c.-99+31388_-99+31601delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.-99+31388_-99+31601delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC)
n.1784_1997delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC
n.1825_2038delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC
17g.43093672_43093884delCA001089BRCA1n.1712_1924del
c.1648_1860del (p.Asn550_Ile620del)
c.1522_1734del (p.Asn508_Ile578del)
c.1645_1857del (p.Asn549_Ile619del)
c.1570_1782del (p.Asn524_Ile594del)
c.784+861_784+1073del (n.784+861_784+1073del)
c.646+861_646+1073del (n.646+861_646+1073del)
c.760_972del (p.Asn254_Ile324del)
c.1525_1737del (p.Asn509_Ile579del)
c.1507_1719del (p.Asn503_Ile573del)
c.664+861_664+1073del (n.664+861_664+1073del)
c.706+861_706+1073del (n.706+861_706+1073del)
c.670+1963_670+2175del (n.670+1963_670+2175del)
c.999_1211del
c.*1431_*1643del (n.*1431_*1643del)
c.787+861_787+1073del (n.787+861_787+1073del)
c.409+861_409+1073del (n.409+861_409+1073del)
c.412+861_412+1073del (n.412+861_412+1073del)
c.5-29932_5-29720del (n.5-29932_5-29720del)
c.-43-19362_-43-19150del (n.-43-19362_-43-19150del)
c.-99+31388_-99+31600del (n.-99+31388_-99+31600del)
n.1784_1996del
n.1825_2037del
 ClinVar dbSNP
17g.43093683_43093694delCA2697554270BRCA1n.1902_1913del
c.1838_1849del (p.Arg613_Ser616del)
c.1712_1723del (p.Arg571_Ser574del)
c.1835_1846del (p.Arg612_Ser615del)
c.1760_1771del (p.Arg587_Ser590del)
c.784+1051_784+1062del (n.784+1051_784+1062del)
c.646+1051_646+1062del (n.646+1051_646+1062del)
c.950_961del (p.Arg317_Ser320del)
c.1715_1726del (p.Arg572_Ser575del)
c.1697_1708del (p.Arg566_Ser569del)
c.664+1051_664+1062del (n.664+1051_664+1062del)
c.706+1051_706+1062del (n.706+1051_706+1062del)
c.670+2153_670+2164del (n.670+2153_670+2164del)
c.1189_1200del
c.*1621_*1632del (n.*1621_*1632del)
c.787+1051_787+1062del (n.787+1051_787+1062del)
c.409+1051_409+1062del (n.409+1051_409+1062del)
c.412+1051_412+1062del (n.412+1051_412+1062del)
c.5-29742_5-29731del (n.5-29742_5-29731del)
c.-43-19172_-43-19161del (n.-43-19172_-43-19161del)
c.-99+31578_-99+31589del (n.-99+31578_-99+31589del)
n.1974_1985del
n.2015_2026del
 ClinVar
17g.43093686_43093688dupCA290843736BRCA1n.1910_1912dup
c.1846_1848dup (p.Ser616_Thr617insSer)
c.1720_1722dup (p.Ser574_Thr575insSer)
c.1843_1845dup (p.Ser615_Thr616insSer)
c.1768_1770dup (p.Ser590_Thr591insSer)
c.784+1059_784+1061dup (n.784+1059_784+1061dup)
c.646+1059_646+1061dup (n.646+1059_646+1061dup)
c.958_960dup (p.Ser320_Thr321insSer)
c.1723_1725dup (p.Ser575_Thr576insSer)
c.1705_1707dup (p.Ser569_Thr570insSer)
c.664+1059_664+1061dup (n.664+1059_664+1061dup)
c.706+1059_706+1061dup (n.706+1059_706+1061dup)
c.670+2161_670+2163dup (n.670+2161_670+2163dup)
c.1197_1199dup
c.*1629_*1631dup (n.*1629_*1631dup)
c.787+1059_787+1061dup (n.787+1059_787+1061dup)
c.409+1059_409+1061dup (n.409+1059_409+1061dup)
c.412+1059_412+1061dup (n.412+1059_412+1061dup)
c.5-29734_5-29732dup (n.5-29734_5-29732dup)
c.-43-19164_-43-19162dup (n.-43-19164_-43-19162dup)
c.-99+31586_-99+31588dup (n.-99+31586_-99+31588dup)
n.1982_1984dup
n.2023_2025dup
 dbSNP
17g.43093686_43093688delCA001202BRCA1n.1910_1912del
c.1846_1848del (p.Ser616del)
c.1720_1722del (p.Ser574del)
c.1843_1845del (p.Ser615del)
c.1768_1770del (p.Ser590del)
c.784+1059_784+1061del (n.784+1059_784+1061del)
c.646+1059_646+1061del (n.646+1059_646+1061del)
c.958_960del (p.Ser320del)
c.1723_1725del (p.Ser575del)
c.1705_1707del (p.Ser569del)
c.664+1059_664+1061del (n.664+1059_664+1061del)
c.706+1059_706+1061del (n.706+1059_706+1061del)
c.670+2161_670+2163del (n.670+2161_670+2163del)
c.1197_1199del
c.*1629_*1631del (n.*1629_*1631del)
c.787+1059_787+1061del (n.787+1059_787+1061del)
c.409+1059_409+1061del (n.409+1059_409+1061del)
c.412+1059_412+1061del (n.412+1059_412+1061del)
c.5-29734_5-29732del (n.5-29734_5-29732del)
c.-43-19164_-43-19162del (n.-43-19164_-43-19162del)
c.-99+31586_-99+31588del (n.-99+31586_-99+31588del)
n.1982_1984del
n.2023_2025del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43093687G>ACA001201BRCA1n.1908C>T
c.1844C>T (p.Ser615Phe)
c.1718C>T (p.Ser573Phe)
c.1841C>T (p.Ser614Phe)
c.1766C>T (p.Ser589Phe)
c.784+1057C>T (n.784+1057C>T)
c.646+1057C>T (n.646+1057C>T)
c.956C>T (p.Ser319Phe)
c.1721C>T (p.Ser574Phe)
c.1703C>T (p.Ser568Phe)
c.664+1057C>T (n.664+1057C>T)
c.706+1057C>T (n.706+1057C>T)
c.670+2159C>T (n.670+2159C>T)
c.1195C>T
c.*1627C>T (n.*1627C>T)
c.787+1057C>T (n.787+1057C>T)
c.409+1057C>T (n.409+1057C>T)
c.412+1057C>T (n.412+1057C>T)
c.5-29736C>T (n.5-29736C>T)
c.-43-19166C>T (n.-43-19166C>T)
c.-99+31584C>T (n.-99+31584C>T)
n.1980C>T
n.2021C>T
 ClinVar dbSNP
17g.43093687G>CCA10598329BRCA1n.1908C>G
c.1844C>G (p.Ser615Cys)
c.1718C>G (p.Ser573Cys)
c.1841C>G (p.Ser614Cys)
c.1766C>G (p.Ser589Cys)
c.784+1057C>G (n.784+1057C>G)
c.646+1057C>G (n.646+1057C>G)
c.956C>G (p.Ser319Cys)
c.1721C>G (p.Ser574Cys)
c.1703C>G (p.Ser568Cys)
c.664+1057C>G (n.664+1057C>G)
c.706+1057C>G (n.706+1057C>G)
c.670+2159C>G (n.670+2159C>G)
c.1195C>G
c.*1627C>G (n.*1627C>G)
c.787+1057C>G (n.787+1057C>G)
c.409+1057C>G (n.409+1057C>G)
c.412+1057C>G (n.412+1057C>G)
c.5-29736C>G (n.5-29736C>G)
c.-43-19166C>G (n.-43-19166C>G)
c.-99+31584C>G (n.-99+31584C>G)
n.1980C>G
n.2021C>G
 dbSNP
17g.43093687G=CA2260784227BRCA1n.1908C=
c.1844C= (p.Ser615=)
c.1718C= (p.Ser573=)
c.1841C= (p.Ser614=)
c.1766C= (p.Ser589=)
c.784+1057C= (n.784+1057C=)
c.646+1057C= (n.646+1057C=)
c.956C= (p.Ser319=)
c.1721C= (p.Ser574=)
c.1703C= (p.Ser568=)
c.664+1057C= (n.664+1057C=)
c.706+1057C= (n.706+1057C=)
c.670+2159C= (n.670+2159C=)
c.1195C=
c.*1627C= (n.*1627C=)
c.787+1057C= (n.787+1057C=)
c.409+1057C= (n.409+1057C=)
c.412+1057C= (n.412+1057C=)
c.5-29736C= (n.5-29736C=)
c.-43-19166C= (n.-43-19166C=)
c.-99+31584C= (n.-99+31584C=)
n.1980C=
n.2021C=
17g.43093687G>TCA10598330BRCA1n.1908C>A
c.1844C>A (p.Ser615Tyr)
c.1718C>A (p.Ser573Tyr)
c.1841C>A (p.Ser614Tyr)
c.1766C>A (p.Ser589Tyr)
c.784+1057C>A (n.784+1057C>A)
c.646+1057C>A (n.646+1057C>A)
c.956C>A (p.Ser319Tyr)
c.1721C>A (p.Ser574Tyr)
c.1703C>A (p.Ser568Tyr)
c.664+1057C>A (n.664+1057C>A)
c.706+1057C>A (n.706+1057C>A)
c.670+2159C>A (n.670+2159C>A)
c.1195C>A
c.*1627C>A (n.*1627C>A)
c.787+1057C>A (n.787+1057C>A)
c.409+1057C>A (n.409+1057C>A)
c.412+1057C>A (n.412+1057C>A)
c.5-29736C>A (n.5-29736C>A)
c.-43-19166C>A (n.-43-19166C>A)
c.-99+31584C>A (n.-99+31584C>A)
n.1980C>A
n.2021C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43093688A=CA2260784228BRCA1n.1907T=
c.1843T= (p.Ser615=)
c.1717T= (p.Ser573=)
c.1840T= (p.Ser614=)
c.1765T= (p.Ser589=)
c.784+1056T= (n.784+1056T=)
c.646+1056T= (n.646+1056T=)
c.955T= (p.Ser319=)
c.1720T= (p.Ser574=)
c.1702T= (p.Ser568=)
c.664+1056T= (n.664+1056T=)
c.706+1056T= (n.706+1056T=)
c.670+2158T= (n.670+2158T=)
c.1194T=
c.*1626T= (n.*1626T=)
c.787+1056T= (n.787+1056T=)
c.409+1056T= (n.409+1056T=)
c.412+1056T= (n.412+1056T=)
c.5-29737T= (n.5-29737T=)
c.-43-19167T= (n.-43-19167T=)
c.-99+31583T= (n.-99+31583T=)
n.1979T=
n.2020T=
17g.43093688A>CCA10598331BRCA1n.1907T>G
c.1843T>G (p.Ser615Ala)
c.1717T>G (p.Ser573Ala)
c.1840T>G (p.Ser614Ala)
c.1765T>G (p.Ser589Ala)
c.784+1056T>G (n.784+1056T>G)
c.646+1056T>G (n.646+1056T>G)
c.955T>G (p.Ser319Ala)
c.1720T>G (p.Ser574Ala)
c.1702T>G (p.Ser568Ala)
c.664+1056T>G (n.664+1056T>G)
c.706+1056T>G (n.706+1056T>G)
c.670+2158T>G (n.670+2158T>G)
c.1194T>G
c.*1626T>G (n.*1626T>G)
c.787+1056T>G (n.787+1056T>G)
c.409+1056T>G (n.409+1056T>G)
c.412+1056T>G (n.412+1056T>G)
c.5-29737T>G (n.5-29737T>G)
c.-43-19167T>G (n.-43-19167T>G)
c.-99+31583T>G (n.-99+31583T>G)
n.1979T>G
n.2020T>G
 ClinVar dbSNP
17g.43093688A>GCA10598332BRCA1n.1907T>C
c.1843T>C (p.Ser615Pro)
c.1717T>C (p.Ser573Pro)
c.1840T>C (p.Ser614Pro)
c.1765T>C (p.Ser589Pro)
c.784+1056T>C (n.784+1056T>C)
c.646+1056T>C (n.646+1056T>C)
c.955T>C (p.Ser319Pro)
c.1720T>C (p.Ser574Pro)
c.1702T>C (p.Ser568Pro)
c.664+1056T>C (n.664+1056T>C)
c.706+1056T>C (n.706+1056T>C)
c.670+2158T>C (n.670+2158T>C)
c.1194T>C
c.*1626T>C (n.*1626T>C)
c.787+1056T>C (n.787+1056T>C)
c.409+1056T>C (n.409+1056T>C)
c.412+1056T>C (n.412+1056T>C)
c.5-29737T>C (n.5-29737T>C)
c.-43-19167T>C (n.-43-19167T>C)
c.-99+31583T>C (n.-99+31583T>C)
n.1979T>C
n.2020T>C
 dbSNP
17g.43093688A>TCA10598333BRCA1n.1907T>A
c.1843T>A (p.Ser615Thr)
c.1717T>A (p.Ser573Thr)
c.1840T>A (p.Ser614Thr)
c.1765T>A (p.Ser589Thr)
c.784+1056T>A (n.784+1056T>A)
c.646+1056T>A (n.646+1056T>A)
c.955T>A (p.Ser319Thr)
c.1720T>A (p.Ser574Thr)
c.1702T>A (p.Ser568Thr)
c.664+1056T>A (n.664+1056T>A)
c.706+1056T>A (n.706+1056T>A)
c.670+2158T>A (n.670+2158T>A)
c.1194T>A
c.*1626T>A (n.*1626T>A)
c.787+1056T>A (n.787+1056T>A)
c.409+1056T>A (n.409+1056T>A)
c.412+1056T>A (n.412+1056T>A)
c.5-29737T>A (n.5-29737T>A)
c.-43-19167T>A (n.-43-19167T>A)
c.-99+31583T>A (n.-99+31583T>A)
n.1979T>A
n.2020T>A
 dbSNP gnomAD v2 gnomAD v4
17g.43093688_43093689dupCA8589950BRCA1n.1906_1907dup
c.1842_1843dup (p.Ser615CysfsTer12)
c.1716_1717dup (p.Ser573CysfsTer12)
c.1839_1840dup (p.Ser614CysfsTer12)
c.1764_1765dup (p.Ser589CysfsTer12)
c.784+1055_784+1056dup (n.784+1055_784+1056dup)
c.646+1055_646+1056dup (n.646+1055_646+1056dup)
c.954_955dup (p.Ser319CysfsTer12)
c.1719_1720dup (p.Ser574CysfsTer12)
c.1701_1702dup (p.Ser568CysfsTer12)
c.664+1055_664+1056dup (n.664+1055_664+1056dup)
c.706+1055_706+1056dup (n.706+1055_706+1056dup)
c.670+2157_670+2158dup (n.670+2157_670+2158dup)
c.1193_1194dup
c.*1625_*1626dup (n.*1625_*1626dup)
c.787+1055_787+1056dup (n.787+1055_787+1056dup)
c.409+1055_409+1056dup (n.409+1055_409+1056dup)
c.412+1055_412+1056dup (n.412+1055_412+1056dup)
c.5-29738_5-29737dup (n.5-29738_5-29737dup)
c.-43-19168_-43-19167dup (n.-43-19168_-43-19167dup)
c.-99+31582_-99+31583dup (n.-99+31582_-99+31583dup)
n.1978_1979dup
n.2019_2020dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43093689C>ACA057570BRCA1n.1906G>T
c.1842G>T (p.Lys614Asn)
c.1716G>T (p.Lys572Asn)
c.1839G>T (p.Lys613Asn)
c.1764G>T (p.Lys588Asn)
c.784+1055G>T (n.784+1055G>T)
c.646+1055G>T (n.646+1055G>T)
c.954G>T (p.Lys318Asn)
c.1719G>T (p.Lys573Asn)
c.1701G>T (p.Lys567Asn)
c.664+1055G>T (n.664+1055G>T)
c.706+1055G>T (n.706+1055G>T)
c.670+2157G>T (n.670+2157G>T)
c.1193G>T
c.*1625G>T (n.*1625G>T)
c.787+1055G>T (n.787+1055G>T)
c.409+1055G>T (n.409+1055G>T)
c.412+1055G>T (n.412+1055G>T)
c.5-29738G>T (n.5-29738G>T)
c.-43-19168G>T (n.-43-19168G>T)
c.-99+31582G>T (n.-99+31582G>T)
n.1978G>T
n.2019G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43093689C=CA2260784229BRCA1n.1906G=
c.1842G= (p.Lys614=)
c.1716G= (p.Lys572=)
c.1839G= (p.Lys613=)
c.1764G= (p.Lys588=)
c.784+1055G= (n.784+1055G=)
c.646+1055G= (n.646+1055G=)
c.954G= (p.Lys318=)
c.1719G= (p.Lys573=)
c.1701G= (p.Lys567=)
c.664+1055G= (n.664+1055G=)
c.706+1055G= (n.706+1055G=)
c.670+2157G= (n.670+2157G=)
c.1193G=
c.*1625G= (n.*1625G=)
c.787+1055G= (n.787+1055G=)
c.409+1055G= (n.409+1055G=)
c.412+1055G= (n.412+1055G=)
c.5-29738G= (n.5-29738G=)
c.-43-19168G= (n.-43-19168G=)
c.-99+31582G= (n.-99+31582G=)
n.1978G=
n.2019G=
17g.43093689C>GCA10598334BRCA1n.1906G>C
c.1842G>C (p.Lys614Asn)
c.1716G>C (p.Lys572Asn)
c.1839G>C (p.Lys613Asn)
c.1764G>C (p.Lys588Asn)
c.784+1055G>C (n.784+1055G>C)
c.646+1055G>C (n.646+1055G>C)
c.954G>C (p.Lys318Asn)
c.1719G>C (p.Lys573Asn)
c.1701G>C (p.Lys567Asn)
c.664+1055G>C (n.664+1055G>C)
c.706+1055G>C (n.706+1055G>C)
c.670+2157G>C (n.670+2157G>C)
c.1193G>C
c.*1625G>C (n.*1625G>C)
c.787+1055G>C (n.787+1055G>C)
c.409+1055G>C (n.409+1055G>C)
c.412+1055G>C (n.412+1055G>C)
c.5-29738G>C (n.5-29738G>C)
c.-43-19168G>C (n.-43-19168G>C)
c.-99+31582G>C (n.-99+31582G>C)
n.1978G>C
n.2019G>C
 dbSNP
17g.43093689C>TCA001200BRCA1n.1906G>A
c.1842G>A (p.Lys614=)
c.1716G>A (p.Lys572=)
c.1839G>A (p.Lys613=)
c.1764G>A (p.Lys588=)
c.784+1055G>A (n.784+1055G>A)
c.646+1055G>A (n.646+1055G>A)
c.954G>A (p.Lys318=)
c.1719G>A (p.Lys573=)
c.1701G>A (p.Lys567=)
c.664+1055G>A (n.664+1055G>A)
c.706+1055G>A (n.706+1055G>A)
c.670+2157G>A (n.670+2157G>A)
c.1193G>A
c.*1625G>A (n.*1625G>A)
c.787+1055G>A (n.787+1055G>A)
c.409+1055G>A (n.409+1055G>A)
c.412+1055G>A (n.412+1055G>A)
c.5-29738G>A (n.5-29738G>A)
c.-43-19168G>A (n.-43-19168G>A)
c.-99+31582G>A (n.-99+31582G>A)
n.1978G>A
n.2019G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43093690T>ACA10598335BRCA1n.1905A>T
c.1841A>T (p.Lys614Met)
c.1715A>T (p.Lys572Met)
c.1838A>T (p.Lys613Met)
c.1763A>T (p.Lys588Met)
c.784+1054A>T (n.784+1054A>T)
c.646+1054A>T (n.646+1054A>T)
c.953A>T (p.Lys318Met)
c.1718A>T (p.Lys573Met)
c.1700A>T (p.Lys567Met)
c.664+1054A>T (n.664+1054A>T)
c.706+1054A>T (n.706+1054A>T)
c.670+2156A>T (n.670+2156A>T)
c.1192A>T
c.*1624A>T (n.*1624A>T)
c.787+1054A>T (n.787+1054A>T)
c.409+1054A>T (n.409+1054A>T)
c.412+1054A>T (n.412+1054A>T)
c.5-29739A>T (n.5-29739A>T)
c.-43-19169A>T (n.-43-19169A>T)
c.-99+31581A>T (n.-99+31581A>T)
n.1977A>T
n.2018A>T
 dbSNP
17g.43093690T>CCA10598336BRCA1n.1905A>G
c.1841A>G (p.Lys614Arg)
c.1715A>G (p.Lys572Arg)
c.1838A>G (p.Lys613Arg)
c.1763A>G (p.Lys588Arg)
c.784+1054A>G (n.784+1054A>G)
c.646+1054A>G (n.646+1054A>G)
c.953A>G (p.Lys318Arg)
c.1718A>G (p.Lys573Arg)
c.1700A>G (p.Lys567Arg)
c.664+1054A>G (n.664+1054A>G)
c.706+1054A>G (n.706+1054A>G)
c.670+2156A>G (n.670+2156A>G)
c.1192A>G
c.*1624A>G (n.*1624A>G)
c.787+1054A>G (n.787+1054A>G)
c.409+1054A>G (n.409+1054A>G)
c.412+1054A>G (n.412+1054A>G)
c.5-29739A>G (n.5-29739A>G)
c.-43-19169A>G (n.-43-19169A>G)
c.-99+31581A>G (n.-99+31581A>G)
n.1977A>G
n.2018A>G
 ClinVar dbSNP gnomAD v4
17g.43093690T>GCA10598337BRCA1n.1905A>C
c.1841A>C (p.Lys614Thr)
c.1715A>C (p.Lys572Thr)
c.1838A>C (p.Lys613Thr)
c.1763A>C (p.Lys588Thr)
c.784+1054A>C (n.784+1054A>C)
c.646+1054A>C (n.646+1054A>C)
c.953A>C (p.Lys318Thr)
c.1718A>C (p.Lys573Thr)
c.1700A>C (p.Lys567Thr)
c.664+1054A>C (n.664+1054A>C)
c.706+1054A>C (n.706+1054A>C)
c.670+2156A>C (n.670+2156A>C)
c.1192A>C
c.*1624A>C (n.*1624A>C)
c.787+1054A>C (n.787+1054A>C)
c.409+1054A>C (n.409+1054A>C)
c.412+1054A>C (n.412+1054A>C)
c.5-29739A>C (n.5-29739A>C)
c.-43-19169A>C (n.-43-19169A>C)
c.-99+31581A>C (n.-99+31581A>C)
n.1977A>C
n.2018A>C
 ClinVar
17g.43093690T=CA2260784231BRCA1n.1905A=
c.1841A= (p.Lys614=)
c.1715A= (p.Lys572=)
c.1838A= (p.Lys613=)
c.1763A= (p.Lys588=)
c.784+1054A= (n.784+1054A=)
c.646+1054A= (n.646+1054A=)
c.953A= (p.Lys318=)
c.1718A= (p.Lys573=)
c.1700A= (p.Lys567=)
c.664+1054A= (n.664+1054A=)
c.706+1054A= (n.706+1054A=)
c.670+2156A= (n.670+2156A=)
c.1192A=
c.*1624A= (n.*1624A=)
c.787+1054A= (n.787+1054A=)
c.409+1054A= (n.409+1054A=)
c.412+1054A= (n.412+1054A=)
c.5-29739A= (n.5-29739A=)
c.-43-19169A= (n.-43-19169A=)
c.-99+31581A= (n.-99+31581A=)
n.1977A=
n.2018A=
17g.43093690_43093692delinsACTCA915950123BRCA1n.1903_1905delinsAGT
c.1839_1841delinsAGT (p.Lys614Val)
c.1713_1715delinsAGT (p.Lys572Val)
c.1836_1838delinsAGT (p.Lys613Val)
c.1761_1763delinsAGT (p.Lys588Val)
c.784+1052_784+1054delinsAGT (n.784+1052_784+1054delinsAGT)
c.646+1052_646+1054delinsAGT (n.646+1052_646+1054delinsAGT)
c.951_953delinsAGT (p.Lys318Val)
c.1716_1718delinsAGT (p.Lys573Val)
c.1698_1700delinsAGT (p.Lys567Val)
c.664+1052_664+1054delinsAGT (n.664+1052_664+1054delinsAGT)
c.706+1052_706+1054delinsAGT (n.706+1052_706+1054delinsAGT)
c.670+2154_670+2156delinsAGT (n.670+2154_670+2156delinsAGT)
c.1190_1192delinsAGT
c.*1622_*1624delinsAGT (n.*1622_*1624delinsAGT)
c.787+1052_787+1054delinsAGT (n.787+1052_787+1054delinsAGT)
c.409+1052_409+1054delinsAGT (n.409+1052_409+1054delinsAGT)
c.412+1052_412+1054delinsAGT (n.412+1052_412+1054delinsAGT)
c.5-29741_5-29739delinsAGT (n.5-29741_5-29739delinsAGT)
c.-43-19171_-43-19169delinsAGT (n.-43-19171_-43-19169delinsAGT)
c.-99+31579_-99+31581delinsAGT (n.-99+31579_-99+31581delinsAGT)
n.1975_1977delinsAGT
n.2016_2018delinsAGT
 ClinVar dbSNP
17g.43093690_43093692delinsTTCCA2260784230BRCA1n.1903_1905delinsGAA
c.1839_1841delinsGAA (p.Arg613=)
c.1713_1715delinsGAA (p.Arg571=)
c.1836_1838delinsGAA (p.Arg612=)
c.1761_1763delinsGAA (p.Arg587=)
c.784+1052_784+1054delinsGAA (n.784+1052_784+1054delinsGAA)
c.646+1052_646+1054delinsGAA (n.646+1052_646+1054delinsGAA)
c.951_953delinsGAA (p.Arg317=)
c.1716_1718delinsGAA (p.Arg572=)
c.1698_1700delinsGAA (p.Arg566=)
c.664+1052_664+1054delinsGAA (n.664+1052_664+1054delinsGAA)
c.706+1052_706+1054delinsGAA (n.706+1052_706+1054delinsGAA)
c.670+2154_670+2156delinsGAA (n.670+2154_670+2156delinsGAA)
c.1190_1192delinsGAA
c.*1622_*1624delinsGAA (n.*1622_*1624delinsGAA)
c.787+1052_787+1054delinsGAA (n.787+1052_787+1054delinsGAA)
c.409+1052_409+1054delinsGAA (n.409+1052_409+1054delinsGAA)
c.412+1052_412+1054delinsGAA (n.412+1052_412+1054delinsGAA)
c.5-29741_5-29739delinsGAA (n.5-29741_5-29739delinsGAA)
c.-43-19171_-43-19169delinsGAA (n.-43-19171_-43-19169delinsGAA)
c.-99+31579_-99+31581delinsGAA (n.-99+31579_-99+31581delinsGAA)
n.1975_1977delinsGAA
n.2016_2018delinsGAA
17g.43093691T>ACA001199BRCA1n.1904A>T
c.1840A>T (p.Lys614Ter)
c.1714A>T (p.Lys572Ter)
c.1837A>T (p.Lys613Ter)
c.1762A>T (p.Lys588Ter)
c.784+1053A>T (n.784+1053A>T)
c.646+1053A>T (n.646+1053A>T)
c.952A>T (p.Lys318Ter)
c.1717A>T (p.Lys573Ter)
c.1699A>T (p.Lys567Ter)
c.664+1053A>T (n.664+1053A>T)
c.706+1053A>T (n.706+1053A>T)
c.670+2155A>T (n.670+2155A>T)
c.1191A>T
c.*1623A>T (n.*1623A>T)
c.787+1053A>T (n.787+1053A>T)
c.409+1053A>T (n.409+1053A>T)
c.412+1053A>T (n.412+1053A>T)
c.5-29740A>T (n.5-29740A>T)
c.-43-19170A>T (n.-43-19170A>T)
c.-99+31580A>T (n.-99+31580A>T)
n.1976A>T
n.2017A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43093691T>CCA10598338BRCA1n.1904A>G
c.1840A>G (p.Lys614Glu)
c.1714A>G (p.Lys572Glu)
c.1837A>G (p.Lys613Glu)
c.1762A>G (p.Lys588Glu)
c.784+1053A>G (n.784+1053A>G)
c.646+1053A>G (n.646+1053A>G)
c.952A>G (p.Lys318Glu)
c.1717A>G (p.Lys573Glu)
c.1699A>G (p.Lys567Glu)
c.664+1053A>G (n.664+1053A>G)
c.706+1053A>G (n.706+1053A>G)
c.670+2155A>G (n.670+2155A>G)
c.1191A>G
c.*1623A>G (n.*1623A>G)
c.787+1053A>G (n.787+1053A>G)
c.409+1053A>G (n.409+1053A>G)
c.412+1053A>G (n.412+1053A>G)
c.5-29740A>G (n.5-29740A>G)
c.-43-19170A>G (n.-43-19170A>G)
c.-99+31580A>G (n.-99+31580A>G)
n.1976A>G
n.2017A>G
 dbSNP
17g.43093691T>GCA057558BRCA1n.1904A>C
c.1840A>C (p.Lys614Gln)
c.1714A>C (p.Lys572Gln)
c.1837A>C (p.Lys613Gln)
c.1762A>C (p.Lys588Gln)
c.784+1053A>C (n.784+1053A>C)
c.646+1053A>C (n.646+1053A>C)
c.952A>C (p.Lys318Gln)
c.1717A>C (p.Lys573Gln)
c.1699A>C (p.Lys567Gln)
c.664+1053A>C (n.664+1053A>C)
c.706+1053A>C (n.706+1053A>C)
c.670+2155A>C (n.670+2155A>C)
c.1191A>C
c.*1623A>C (n.*1623A>C)
c.787+1053A>C (n.787+1053A>C)
c.409+1053A>C (n.409+1053A>C)
c.412+1053A>C (n.412+1053A>C)
c.5-29740A>C (n.5-29740A>C)
c.-43-19170A>C (n.-43-19170A>C)
c.-99+31580A>C (n.-99+31580A>C)
n.1976A>C
n.2017A>C
 dbSNP ExAC gnomAD v2
17g.43093691T=CA2260784232BRCA1n.1904A=
c.1840A= (p.Lys614=)
c.1714A= (p.Lys572=)
c.1837A= (p.Lys613=)
c.1762A= (p.Lys588=)
c.784+1053A= (n.784+1053A=)
c.646+1053A= (n.646+1053A=)
c.952A= (p.Lys318=)
c.1717A= (p.Lys573=)
c.1699A= (p.Lys567=)
c.664+1053A= (n.664+1053A=)
c.706+1053A= (n.706+1053A=)
c.670+2155A= (n.670+2155A=)
c.1191A=
c.*1623A= (n.*1623A=)
c.787+1053A= (n.787+1053A=)
c.409+1053A= (n.409+1053A=)
c.412+1053A= (n.412+1053A=)
c.5-29740A= (n.5-29740A=)
c.-43-19170A= (n.-43-19170A=)
c.-99+31580A= (n.-99+31580A=)
n.1976A=
n.2017A=
17g.43093691_43093692delCA057553BRCA1n.1903_1904del
c.1839_1840del (p.Lys614ValfsTer10)
c.1713_1714del (p.Lys572ValfsTer10)
c.1836_1837del (p.Lys613ValfsTer10)
c.1761_1762del (p.Lys588ValfsTer10)
c.784+1052_784+1053del (n.784+1052_784+1053del)
c.646+1052_646+1053del (n.646+1052_646+1053del)
c.951_952del (p.Lys318ValfsTer10)
c.1716_1717del (p.Lys573ValfsTer10)
c.1698_1699del (p.Lys567ValfsTer10)
c.664+1052_664+1053del (n.664+1052_664+1053del)
c.706+1052_706+1053del (n.706+1052_706+1053del)
c.670+2154_670+2155del (n.670+2154_670+2155del)
c.1190_1191del
c.*1622_*1623del (n.*1622_*1623del)
c.787+1052_787+1053del (n.787+1052_787+1053del)
c.409+1052_409+1053del (n.409+1052_409+1053del)
c.412+1052_412+1053del (n.412+1052_412+1053del)
c.5-29741_5-29740del (n.5-29741_5-29740del)
c.-43-19171_-43-19170del (n.-43-19171_-43-19170del)
c.-99+31579_-99+31580del (n.-99+31579_-99+31580del)
n.1975_1976del
n.2016_2017del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43093692C>ACA10598339BRCA1n.1903G>T
c.1839G>T (p.Arg613Ser)
c.1713G>T (p.Arg571Ser)
c.1836G>T (p.Arg612Ser)
c.1761G>T (p.Arg587Ser)
c.784+1052G>T (n.784+1052G>T)
c.646+1052G>T (n.646+1052G>T)
c.951G>T (p.Arg317Ser)
c.1716G>T (p.Arg572Ser)
c.1698G>T (p.Arg566Ser)
c.664+1052G>T (n.664+1052G>T)
c.706+1052G>T (n.706+1052G>T)
c.670+2154G>T (n.670+2154G>T)
c.1190G>T
c.*1622G>T (n.*1622G>T)
c.787+1052G>T (n.787+1052G>T)
c.409+1052G>T (n.409+1052G>T)
c.412+1052G>T (n.412+1052G>T)
c.5-29741G>T (n.5-29741G>T)
c.-43-19171G>T (n.-43-19171G>T)
c.-99+31579G>T (n.-99+31579G>T)
n.1975G>T
n.2016G>T
 dbSNP
17g.43093692C=CA2260784233BRCA1n.1903G=
c.1839G= (p.Arg613=)
c.1713G= (p.Arg571=)
c.1836G= (p.Arg612=)
c.1761G= (p.Arg587=)
c.784+1052G= (n.784+1052G=)
c.646+1052G= (n.646+1052G=)
c.951G= (p.Arg317=)
c.1716G= (p.Arg572=)
c.1698G= (p.Arg566=)
c.664+1052G= (n.664+1052G=)
c.706+1052G= (n.706+1052G=)
c.670+2154G= (n.670+2154G=)
c.1190G=
c.*1622G= (n.*1622G=)
c.787+1052G= (n.787+1052G=)
c.409+1052G= (n.409+1052G=)
c.412+1052G= (n.412+1052G=)
c.5-29741G= (n.5-29741G=)
c.-43-19171G= (n.-43-19171G=)
c.-99+31579G= (n.-99+31579G=)
n.1975G=
n.2016G=
17g.43093692C>GCA10598340BRCA1n.1903G>C
c.1839G>C (p.Arg613Ser)
c.1713G>C (p.Arg571Ser)
c.1836G>C (p.Arg612Ser)
c.1761G>C (p.Arg587Ser)
c.784+1052G>C (n.784+1052G>C)
c.646+1052G>C (n.646+1052G>C)
c.951G>C (p.Arg317Ser)
c.1716G>C (p.Arg572Ser)
c.1698G>C (p.Arg566Ser)
c.664+1052G>C (n.664+1052G>C)
c.706+1052G>C (n.706+1052G>C)
c.670+2154G>C (n.670+2154G>C)
c.1190G>C
c.*1622G>C (n.*1622G>C)
c.787+1052G>C (n.787+1052G>C)
c.409+1052G>C (n.409+1052G>C)
c.412+1052G>C (n.412+1052G>C)
c.5-29741G>C (n.5-29741G>C)
c.-43-19171G>C (n.-43-19171G>C)
c.-99+31579G>C (n.-99+31579G>C)
n.1975G>C
n.2016G>C
 dbSNP
17g.43093692C>TCA057555BRCA1n.1903G>A
c.1839G>A (p.Arg613=)
c.1713G>A (p.Arg571=)
c.1836G>A (p.Arg612=)
c.1761G>A (p.Arg587=)
c.784+1052G>A (n.784+1052G>A)
c.646+1052G>A (n.646+1052G>A)
c.951G>A (p.Arg317=)
c.1716G>A (p.Arg572=)
c.1698G>A (p.Arg566=)
c.664+1052G>A (n.664+1052G>A)
c.706+1052G>A (n.706+1052G>A)
c.670+2154G>A (n.670+2154G>A)
c.1190G>A
c.*1622G>A (n.*1622G>A)
c.787+1052G>A (n.787+1052G>A)
c.409+1052G>A (n.409+1052G>A)
c.412+1052G>A (n.412+1052G>A)
c.5-29741G>A (n.5-29741G>A)
c.-43-19171G>A (n.-43-19171G>A)
c.-99+31579G>A (n.-99+31579G>A)
n.1975G>A
n.2016G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43093693C>ACA10598341BRCA1n.1902G>T
c.1838G>T (p.Arg613Met)
c.1712G>T (p.Arg571Met)
c.1835G>T (p.Arg612Met)
c.1760G>T (p.Arg587Met)
c.784+1051G>T (n.784+1051G>T)
c.646+1051G>T (n.646+1051G>T)
c.950G>T (p.Arg317Met)
c.1715G>T (p.Arg572Met)
c.1697G>T (p.Arg566Met)
c.664+1051G>T (n.664+1051G>T)
c.706+1051G>T (n.706+1051G>T)
c.670+2153G>T (n.670+2153G>T)
c.1189G>T
c.*1621G>T (n.*1621G>T)
c.787+1051G>T (n.787+1051G>T)
c.409+1051G>T (n.409+1051G>T)
c.412+1051G>T (n.412+1051G>T)
c.5-29742G>T (n.5-29742G>T)
c.-43-19172G>T (n.-43-19172G>T)
c.-99+31578G>T (n.-99+31578G>T)
n.1974G>T
n.2015G>T
 ClinVar dbSNP
17g.43093693C=CA2260784235BRCA1n.1902G=
c.1838G= (p.Arg613=)
c.1712G= (p.Arg571=)
c.1835G= (p.Arg612=)
c.1760G= (p.Arg587=)
c.784+1051G= (n.784+1051G=)
c.646+1051G= (n.646+1051G=)
c.950G= (p.Arg317=)
c.1715G= (p.Arg572=)
c.1697G= (p.Arg566=)
c.664+1051G= (n.664+1051G=)
c.706+1051G= (n.706+1051G=)
c.670+2153G= (n.670+2153G=)
c.1189G=
c.*1621G= (n.*1621G=)
c.787+1051G= (n.787+1051G=)
c.409+1051G= (n.409+1051G=)
c.412+1051G= (n.412+1051G=)
c.5-29742G= (n.5-29742G=)
c.-43-19172G= (n.-43-19172G=)
c.-99+31578G= (n.-99+31578G=)
n.1974G=
n.2015G=
17g.43093693C>GCA10598342BRCA1n.1902G>C
c.1838G>C (p.Arg613Thr)
c.1712G>C (p.Arg571Thr)
c.1835G>C (p.Arg612Thr)
c.1760G>C (p.Arg587Thr)
c.784+1051G>C (n.784+1051G>C)
c.646+1051G>C (n.646+1051G>C)
c.950G>C (p.Arg317Thr)
c.1715G>C (p.Arg572Thr)
c.1697G>C (p.Arg566Thr)
c.664+1051G>C (n.664+1051G>C)
c.706+1051G>C (n.706+1051G>C)
c.670+2153G>C (n.670+2153G>C)
c.1189G>C
c.*1621G>C (n.*1621G>C)
c.787+1051G>C (n.787+1051G>C)
c.409+1051G>C (n.409+1051G>C)
c.412+1051G>C (n.412+1051G>C)
c.5-29742G>C (n.5-29742G>C)
c.-43-19172G>C (n.-43-19172G>C)
c.-99+31578G>C (n.-99+31578G>C)
n.1974G>C
n.2015G>C
 dbSNP
17g.43093693C>TCA001198BRCA1n.1902G>A
c.1838G>A (p.Arg613Lys)
c.1712G>A (p.Arg571Lys)
c.1835G>A (p.Arg612Lys)
c.1760G>A (p.Arg587Lys)
c.784+1051G>A (n.784+1051G>A)
c.646+1051G>A (n.646+1051G>A)
c.950G>A (p.Arg317Lys)
c.1715G>A (p.Arg572Lys)
c.1697G>A (p.Arg566Lys)
c.664+1051G>A (n.664+1051G>A)
c.706+1051G>A (n.706+1051G>A)
c.670+2153G>A (n.670+2153G>A)
c.1189G>A
c.*1621G>A (n.*1621G>A)
c.787+1051G>A (n.787+1051G>A)
c.409+1051G>A (n.409+1051G>A)
c.412+1051G>A (n.412+1051G>A)
c.5-29742G>A (n.5-29742G>A)
c.-43-19172G>A (n.-43-19172G>A)
c.-99+31578G>A (n.-99+31578G>A)
n.1974G>A
n.2015G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43093693_43093694delinsCTCA2260784234BRCA1n.1901_1902delinsAG
c.1837_1838delinsAG (p.Arg613=)
c.1711_1712delinsAG (p.Arg571=)
c.1834_1835delinsAG (p.Arg612=)
c.1759_1760delinsAG (p.Arg587=)
c.784+1050_784+1051delinsAG (n.784+1050_784+1051delinsAG)
c.646+1050_646+1051delinsAG (n.646+1050_646+1051delinsAG)
c.949_950delinsAG (p.Arg317=)
c.1714_1715delinsAG (p.Arg572=)
c.1696_1697delinsAG (p.Arg566=)
c.664+1050_664+1051delinsAG (n.664+1050_664+1051delinsAG)
c.706+1050_706+1051delinsAG (n.706+1050_706+1051delinsAG)
c.670+2152_670+2153delinsAG (n.670+2152_670+2153delinsAG)
c.1188_1189delinsAG
c.*1620_*1621delinsAG (n.*1620_*1621delinsAG)
c.787+1050_787+1051delinsAG (n.787+1050_787+1051delinsAG)
c.409+1050_409+1051delinsAG (n.409+1050_409+1051delinsAG)
c.412+1050_412+1051delinsAG (n.412+1050_412+1051delinsAG)
c.5-29743_5-29742delinsAG (n.5-29743_5-29742delinsAG)
c.-43-19173_-43-19172delinsAG (n.-43-19173_-43-19172delinsAG)
c.-99+31577_-99+31578delinsAG (n.-99+31577_-99+31578delinsAG)
n.1973_1974delinsAG
n.2014_2015delinsAG
17g.43093694delCA001197BRCA1n.1901del
c.1837del (p.Arg613GlyfsTer13)
c.1711del (p.Arg571GlyfsTer13)
c.1834del (p.Arg612GlyfsTer13)
c.1759del (p.Arg587GlyfsTer13)
c.784+1050del (n.784+1050del)
c.646+1050del (n.646+1050del)
c.949del (p.Arg317GlyfsTer13)
c.1714del (p.Arg572GlyfsTer13)
c.1696del (p.Arg566GlyfsTer13)
c.664+1050del (n.664+1050del)
c.706+1050del (n.706+1050del)
c.670+2152del (n.670+2152del)
c.1188del
c.*1620del (n.*1620del)
c.787+1050del (n.787+1050del)
c.409+1050del (n.409+1050del)
c.412+1050del (n.412+1050del)
c.5-29743del (n.5-29743del)
c.-43-19173del (n.-43-19173del)
c.-99+31577del (n.-99+31577del)
n.1973del
n.2014del
 ClinVar dbSNP
17g.43093694T>ACA10598343BRCA1n.1901A>T
c.1837A>T (p.Arg613Trp)
c.1711A>T (p.Arg571Trp)
c.1834A>T (p.Arg612Trp)
c.1759A>T (p.Arg587Trp)
c.784+1050A>T (n.784+1050A>T)
c.646+1050A>T (n.646+1050A>T)
c.949A>T (p.Arg317Trp)
c.1714A>T (p.Arg572Trp)
c.1696A>T (p.Arg566Trp)
c.664+1050A>T (n.664+1050A>T)
c.706+1050A>T (n.706+1050A>T)
c.670+2152A>T (n.670+2152A>T)
c.1188A>T
c.*1620A>T (n.*1620A>T)
c.787+1050A>T (n.787+1050A>T)
c.409+1050A>T (n.409+1050A>T)
c.412+1050A>T (n.412+1050A>T)
c.5-29743A>T (n.5-29743A>T)
c.-43-19173A>T (n.-43-19173A>T)
c.-99+31577A>T (n.-99+31577A>T)
n.1973A>T
n.2014A>T
17g.43093694T>CCA336046BRCA1n.1901A>G
c.1837A>G (p.Arg613Gly)
c.1711A>G (p.Arg571Gly)
c.1834A>G (p.Arg612Gly)
c.1759A>G (p.Arg587Gly)
c.784+1050A>G (n.784+1050A>G)
c.646+1050A>G (n.646+1050A>G)
c.949A>G (p.Arg317Gly)
c.1714A>G (p.Arg572Gly)
c.1696A>G (p.Arg566Gly)
c.664+1050A>G (n.664+1050A>G)
c.706+1050A>G (n.706+1050A>G)
c.670+2152A>G (n.670+2152A>G)
c.1188A>G
c.*1620A>G (n.*1620A>G)
c.787+1050A>G (n.787+1050A>G)
c.409+1050A>G (n.409+1050A>G)
c.412+1050A>G (n.412+1050A>G)
c.5-29743A>G (n.5-29743A>G)
c.-43-19173A>G (n.-43-19173A>G)
c.-99+31577A>G (n.-99+31577A>G)
n.1973A>G
n.2014A>G
 ClinVar dbSNP gnomAD v4
17g.43093694T>GCA500232808BRCA1n.1901A>C
c.1837A>C (p.Arg613=)
c.1711A>C (p.Arg571=)
c.1834A>C (p.Arg612=)
c.1759A>C (p.Arg587=)
c.784+1050A>C (n.784+1050A>C)
c.646+1050A>C (n.646+1050A>C)
c.949A>C (p.Arg317=)
c.1714A>C (p.Arg572=)
c.1696A>C (p.Arg566=)
c.664+1050A>C (n.664+1050A>C)
c.706+1050A>C (n.706+1050A>C)
c.670+2152A>C (n.670+2152A>C)
c.1188A>C
c.*1620A>C (n.*1620A>C)
c.787+1050A>C (n.787+1050A>C)
c.409+1050A>C (n.409+1050A>C)
c.412+1050A>C (n.412+1050A>C)
c.5-29743A>C (n.5-29743A>C)
c.-43-19173A>C (n.-43-19173A>C)
c.-99+31577A>C (n.-99+31577A>C)
n.1973A>C
n.2014A>C
 ClinVar dbSNP

Number of alleles fetched