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.43093620_43093630delinsAGTACAATTAGCA2260784160BRCA1n.1965_1975delinsCTAATTGTACT
c.1901_1911delinsCTAATTGTACT (p.Pro634=)
c.1775_1785delinsCTAATTGTACT (p.Pro592=)
c.1898_1908delinsCTAATTGTACT (p.Pro633=)
c.1823_1833delinsCTAATTGTACT (p.Pro608=)
c.784+1114_784+1124delinsCTAATTGTACT (n.784+1114_784+1124delinsCTAATTGTACT)
c.646+1114_646+1124delinsCTAATTGTACT (n.646+1114_646+1124delinsCTAATTGTACT)
c.1013_1023delinsCTAATTGTACT (p.Pro338=)
c.1778_1788delinsCTAATTGTACT (p.Pro593=)
c.1760_1770delinsCTAATTGTACT (p.Pro587=)
c.664+1114_664+1124delinsCTAATTGTACT (n.664+1114_664+1124delinsCTAATTGTACT)
c.706+1114_706+1124delinsCTAATTGTACT (n.706+1114_706+1124delinsCTAATTGTACT)
c.670+2216_670+2226delinsCTAATTGTACT (n.670+2216_670+2226delinsCTAATTGTACT)
c.1252_1262delinsCTAATTGTACT
c.*1684_*1694delinsCTAATTGTACT (n.*1684_*1694delinsCTAATTGTACT)
c.787+1114_787+1124delinsCTAATTGTACT (n.787+1114_787+1124delinsCTAATTGTACT)
c.409+1114_409+1124delinsCTAATTGTACT (n.409+1114_409+1124delinsCTAATTGTACT)
c.412+1114_412+1124delinsCTAATTGTACT (n.412+1114_412+1124delinsCTAATTGTACT)
c.5-29679_5-29669delinsCTAATTGTACT (n.5-29679_5-29669delinsCTAATTGTACT)
c.-43-19109_-43-19099delinsCTAATTGTACT (n.-43-19109_-43-19099delinsCTAATTGTACT)
c.-99+31641_-99+31651delinsCTAATTGTACT (n.-99+31641_-99+31651delinsCTAATTGTACT)
n.2037_2047delinsCTAATTGTACT
n.2078_2088delinsCTAATTGTACT
17g.43093621_43093626delinsGTACAACA2260784162BRCA1n.1969_1974delinsTTGTAC
c.1905_1910delinsTTGTAC (p.Asn635=)
c.1779_1784delinsTTGTAC (p.Asn593=)
c.1902_1907delinsTTGTAC (p.Asn634=)
c.1827_1832delinsTTGTAC (p.Asn609=)
c.784+1118_784+1123delinsTTGTAC (n.784+1118_784+1123delinsTTGTAC)
c.646+1118_646+1123delinsTTGTAC (n.646+1118_646+1123delinsTTGTAC)
c.1017_1022delinsTTGTAC (p.Asn339=)
c.1782_1787delinsTTGTAC (p.Asn594=)
c.1764_1769delinsTTGTAC (p.Asn588=)
c.664+1118_664+1123delinsTTGTAC (n.664+1118_664+1123delinsTTGTAC)
c.706+1118_706+1123delinsTTGTAC (n.706+1118_706+1123delinsTTGTAC)
c.670+2220_670+2225delinsTTGTAC (n.670+2220_670+2225delinsTTGTAC)
c.1256_1261delinsTTGTAC
c.*1688_*1693delinsTTGTAC (n.*1688_*1693delinsTTGTAC)
c.787+1118_787+1123delinsTTGTAC (n.787+1118_787+1123delinsTTGTAC)
c.409+1118_409+1123delinsTTGTAC (n.409+1118_409+1123delinsTTGTAC)
c.412+1118_412+1123delinsTTGTAC (n.412+1118_412+1123delinsTTGTAC)
c.5-29675_5-29670delinsTTGTAC (n.5-29675_5-29670delinsTTGTAC)
c.-43-19105_-43-19100delinsTTGTAC (n.-43-19105_-43-19100delinsTTGTAC)
c.-99+31645_-99+31650delinsTTGTAC (n.-99+31645_-99+31650delinsTTGTAC)
n.2041_2046delinsTTGTAC
n.2082_2087delinsTTGTAC
17g.43093623_43093632delCA913188847BRCA1n.1965_1974del
c.1901_1910del (p.Pro634LeufsTer14)
c.1775_1784del (p.Pro592LeufsTer14)
c.1898_1907del (p.Pro633LeufsTer14)
c.1823_1832del (p.Pro608LeufsTer14)
c.784+1114_784+1123del (n.784+1114_784+1123del)
c.646+1114_646+1123del (n.646+1114_646+1123del)
c.1013_1022del (p.Pro338LeufsTer14)
c.1778_1787del (p.Pro593LeufsTer14)
c.1760_1769del (p.Pro587LeufsTer14)
c.664+1114_664+1123del (n.664+1114_664+1123del)
c.706+1114_706+1123del (n.706+1114_706+1123del)
c.1760_1769del (p.Pro587LeufsTer?)
c.670+2216_670+2225del (n.670+2216_670+2225del)
c.1252_1261del
c.*1684_*1693del (n.*1684_*1693del)
c.787+1114_787+1123del (n.787+1114_787+1123del)
c.1901_1910del (p.Pro634LeufsTer?)
c.1823_1832del (p.Pro608LeufsTer?)
c.409+1114_409+1123del (n.409+1114_409+1123del)
c.412+1114_412+1123del (n.412+1114_412+1123del)
c.5-29679_5-29670del (n.5-29679_5-29670del)
c.-43-19109_-43-19100del (n.-43-19109_-43-19100del)
c.-99+31641_-99+31650del (n.-99+31641_-99+31650del)
n.2037_2046del
n.2078_2087del
 ClinVar dbSNP
17g.43093623_43093627delCA10589911BRCA1n.1969_1973del
c.1905_1909del (p.Cys636Ter)
c.1779_1783del (p.Cys594Ter)
c.1902_1906del (p.Cys635Ter)
c.1827_1831del (p.Cys610Ter)
c.784+1118_784+1122del (n.784+1118_784+1122del)
c.646+1118_646+1122del (n.646+1118_646+1122del)
c.1017_1021del (p.Cys340Ter)
c.1782_1786del (p.Cys595Ter)
c.1764_1768del (p.Cys589Ter)
c.664+1118_664+1122del (n.664+1118_664+1122del)
c.706+1118_706+1122del (n.706+1118_706+1122del)
c.670+2220_670+2224del (n.670+2220_670+2224del)
c.1256_1260del
c.*1688_*1692del (n.*1688_*1692del)
c.787+1118_787+1122del (n.787+1118_787+1122del)
c.409+1118_409+1122del (n.409+1118_409+1122del)
c.412+1118_412+1122del (n.412+1118_412+1122del)
c.5-29675_5-29671del (n.5-29675_5-29671del)
c.-43-19105_-43-19101del (n.-43-19105_-43-19101del)
c.-99+31645_-99+31649del (n.-99+31645_-99+31649del)
n.2041_2045del
n.2082_2086del
 ClinVar dbSNP
17g.43093626delCA001247BRCA1n.1970del
c.1906del (p.Cys636ValfsTer15)
c.1780del (p.Cys594ValfsTer15)
c.1903del (p.Cys635ValfsTer15)
c.1828del (p.Cys610ValfsTer15)
c.784+1119del (n.784+1119del)
c.646+1119del (n.646+1119del)
c.1018del (p.Cys340ValfsTer15)
c.1783del (p.Cys595ValfsTer15)
c.1765del (p.Cys589ValfsTer15)
c.664+1119del (n.664+1119del)
c.706+1119del (n.706+1119del)
c.1765del (p.Cys589ValfsTer?)
c.670+2221del (n.670+2221del)
c.1257del
c.*1689del (n.*1689del)
c.787+1119del (n.787+1119del)
c.1906del (p.Cys636ValfsTer?)
c.1828del (p.Cys610ValfsTer?)
c.409+1119del (n.409+1119del)
c.412+1119del (n.412+1119del)
c.5-29674del (n.5-29674del)
c.-43-19104del (n.-43-19104del)
c.-99+31646del (n.-99+31646del)
n.2042del
n.2083del
 ClinVar dbSNP
17g.43093626A=CA2260784167BRCA1n.1969T=
c.1905T= (p.Asn635=)
c.1779T= (p.Asn593=)
c.1902T= (p.Asn634=)
c.1827T= (p.Asn609=)
c.784+1118T= (n.784+1118T=)
c.646+1118T= (n.646+1118T=)
c.1017T= (p.Asn339=)
c.1782T= (p.Asn594=)
c.1764T= (p.Asn588=)
c.664+1118T= (n.664+1118T=)
c.706+1118T= (n.706+1118T=)
c.670+2220T= (n.670+2220T=)
c.1256T=
c.*1688T= (n.*1688T=)
c.787+1118T= (n.787+1118T=)
c.409+1118T= (n.409+1118T=)
c.412+1118T= (n.412+1118T=)
c.5-29675T= (n.5-29675T=)
c.-43-19105T= (n.-43-19105T=)
c.-99+31645T= (n.-99+31645T=)
n.2041T=
n.2082T=
17g.43093626A>CCA10598214BRCA1n.1969T>G
c.1905T>G (p.Asn635Lys)
c.1779T>G (p.Asn593Lys)
c.1902T>G (p.Asn634Lys)
c.1827T>G (p.Asn609Lys)
c.784+1118T>G (n.784+1118T>G)
c.646+1118T>G (n.646+1118T>G)
c.1017T>G (p.Asn339Lys)
c.1782T>G (p.Asn594Lys)
c.1764T>G (p.Asn588Lys)
c.664+1118T>G (n.664+1118T>G)
c.706+1118T>G (n.706+1118T>G)
c.670+2220T>G (n.670+2220T>G)
c.1256T>G
c.*1688T>G (n.*1688T>G)
c.787+1118T>G (n.787+1118T>G)
c.409+1118T>G (n.409+1118T>G)
c.412+1118T>G (n.412+1118T>G)
c.5-29675T>G (n.5-29675T>G)
c.-43-19105T>G (n.-43-19105T>G)
c.-99+31645T>G (n.-99+31645T>G)
n.2041T>G
n.2082T>G
 ClinVar dbSNP
17g.43093626A>GCA001245BRCA1n.1969T>C
c.1905T>C (p.Asn635=)
c.1779T>C (p.Asn593=)
c.1902T>C (p.Asn634=)
c.1827T>C (p.Asn609=)
c.784+1118T>C (n.784+1118T>C)
c.646+1118T>C (n.646+1118T>C)
c.1017T>C (p.Asn339=)
c.1782T>C (p.Asn594=)
c.1764T>C (p.Asn588=)
c.664+1118T>C (n.664+1118T>C)
c.706+1118T>C (n.706+1118T>C)
c.670+2220T>C (n.670+2220T>C)
c.1256T>C
c.*1688T>C (n.*1688T>C)
c.787+1118T>C (n.787+1118T>C)
c.409+1118T>C (n.409+1118T>C)
c.412+1118T>C (n.412+1118T>C)
c.5-29675T>C (n.5-29675T>C)
c.-43-19105T>C (n.-43-19105T>C)
c.-99+31645T>C (n.-99+31645T>C)
n.2041T>C
n.2082T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43093626A>TCA10598215BRCA1n.1969T>A
c.1905T>A (p.Asn635Lys)
c.1779T>A (p.Asn593Lys)
c.1902T>A (p.Asn634Lys)
c.1827T>A (p.Asn609Lys)
c.784+1118T>A (n.784+1118T>A)
c.646+1118T>A (n.646+1118T>A)
c.1017T>A (p.Asn339Lys)
c.1782T>A (p.Asn594Lys)
c.1764T>A (p.Asn588Lys)
c.664+1118T>A (n.664+1118T>A)
c.706+1118T>A (n.706+1118T>A)
c.670+2220T>A (n.670+2220T>A)
c.1256T>A
c.*1688T>A (n.*1688T>A)
c.787+1118T>A (n.787+1118T>A)
c.409+1118T>A (n.409+1118T>A)
c.412+1118T>A (n.412+1118T>A)
c.5-29675T>A (n.5-29675T>A)
c.-43-19105T>A (n.-43-19105T>A)
c.-99+31645T>A (n.-99+31645T>A)
n.2041T>A
n.2082T>A
17g.43093627T>ACA10598216BRCA1n.1968A>T
c.1904A>T (p.Asn635Ile)
c.1778A>T (p.Asn593Ile)
c.1901A>T (p.Asn634Ile)
c.1826A>T (p.Asn609Ile)
c.784+1117A>T (n.784+1117A>T)
c.646+1117A>T (n.646+1117A>T)
c.1016A>T (p.Asn339Ile)
c.1781A>T (p.Asn594Ile)
c.1763A>T (p.Asn588Ile)
c.664+1117A>T (n.664+1117A>T)
c.706+1117A>T (n.706+1117A>T)
c.670+2219A>T (n.670+2219A>T)
c.1255A>T
c.*1687A>T (n.*1687A>T)
c.787+1117A>T (n.787+1117A>T)
c.409+1117A>T (n.409+1117A>T)
c.412+1117A>T (n.412+1117A>T)
c.5-29676A>T (n.5-29676A>T)
c.-43-19106A>T (n.-43-19106A>T)
c.-99+31644A>T (n.-99+31644A>T)
n.2040A>T
n.2081A>T
 dbSNP
17g.43093627T>CCA10598217BRCA1n.1968A>G
c.1904A>G (p.Asn635Ser)
c.1778A>G (p.Asn593Ser)
c.1901A>G (p.Asn634Ser)
c.1826A>G (p.Asn609Ser)
c.784+1117A>G (n.784+1117A>G)
c.646+1117A>G (n.646+1117A>G)
c.1016A>G (p.Asn339Ser)
c.1781A>G (p.Asn594Ser)
c.1763A>G (p.Asn588Ser)
c.664+1117A>G (n.664+1117A>G)
c.706+1117A>G (n.706+1117A>G)
c.670+2219A>G (n.670+2219A>G)
c.1255A>G
c.*1687A>G (n.*1687A>G)
c.787+1117A>G (n.787+1117A>G)
c.409+1117A>G (n.409+1117A>G)
c.412+1117A>G (n.412+1117A>G)
c.5-29676A>G (n.5-29676A>G)
c.-43-19106A>G (n.-43-19106A>G)
c.-99+31644A>G (n.-99+31644A>G)
n.2040A>G
n.2081A>G
 ClinVar dbSNP
17g.43093627T>GCA10598218BRCA1n.1968A>C
c.1904A>C (p.Asn635Thr)
c.1778A>C (p.Asn593Thr)
c.1901A>C (p.Asn634Thr)
c.1826A>C (p.Asn609Thr)
c.784+1117A>C (n.784+1117A>C)
c.646+1117A>C (n.646+1117A>C)
c.1016A>C (p.Asn339Thr)
c.1781A>C (p.Asn594Thr)
c.1763A>C (p.Asn588Thr)
c.664+1117A>C (n.664+1117A>C)
c.706+1117A>C (n.706+1117A>C)
c.670+2219A>C (n.670+2219A>C)
c.1255A>C
c.*1687A>C (n.*1687A>C)
c.787+1117A>C (n.787+1117A>C)
c.409+1117A>C (n.409+1117A>C)
c.412+1117A>C (n.412+1117A>C)
c.5-29676A>C (n.5-29676A>C)
c.-43-19106A>C (n.-43-19106A>C)
c.-99+31644A>C (n.-99+31644A>C)
n.2040A>C
n.2081A>C
 ClinVar
17g.43093627T=CA2260784168BRCA1n.1968A=
c.1904A= (p.Asn635=)
c.1778A= (p.Asn593=)
c.1901A= (p.Asn634=)
c.1826A= (p.Asn609=)
c.784+1117A= (n.784+1117A=)
c.646+1117A= (n.646+1117A=)
c.1016A= (p.Asn339=)
c.1781A= (p.Asn594=)
c.1763A= (p.Asn588=)
c.664+1117A= (n.664+1117A=)
c.706+1117A= (n.706+1117A=)
c.670+2219A= (n.670+2219A=)
c.1255A=
c.*1687A= (n.*1687A=)
c.787+1117A= (n.787+1117A=)
c.409+1117A= (n.409+1117A=)
c.412+1117A= (n.412+1117A=)
c.5-29676A= (n.5-29676A=)
c.-43-19106A= (n.-43-19106A=)
c.-99+31644A= (n.-99+31644A=)
n.2040A=
n.2081A=
17g.43093631_43093640delCA2697554269BRCA1n.1959_1968del
c.1895_1904del (p.Ser632IlefsTer16)
c.1769_1778del (p.Ser590IlefsTer16)
c.1892_1901del (p.Ser631IlefsTer16)
c.1817_1826del (p.Ser606IlefsTer16)
c.784+1108_784+1117del (n.784+1108_784+1117del)
c.646+1108_646+1117del (n.646+1108_646+1117del)
c.1007_1016del (p.Ser336IlefsTer16)
c.1772_1781del (p.Ser591IlefsTer16)
c.1754_1763del (p.Ser585IlefsTer16)
c.664+1108_664+1117del (n.664+1108_664+1117del)
c.706+1108_706+1117del (n.706+1108_706+1117del)
c.1754_1763del (p.Ser585IlefsTer?)
c.670+2210_670+2219del (n.670+2210_670+2219del)
c.1246_1255del
c.*1678_*1687del (n.*1678_*1687del)
c.787+1108_787+1117del (n.787+1108_787+1117del)
c.1895_1904del (p.Ser632IlefsTer?)
c.1817_1826del (p.Ser606IlefsTer?)
c.409+1108_409+1117del (n.409+1108_409+1117del)
c.412+1108_412+1117del (n.412+1108_412+1117del)
c.5-29685_5-29676del (n.5-29685_5-29676del)
c.-43-19115_-43-19106del (n.-43-19115_-43-19106del)
c.-99+31635_-99+31644del (n.-99+31635_-99+31644del)
n.2031_2040del
n.2072_2081del
17g.43093628T>ACA10598219BRCA1n.1967A>T
c.1903A>T (p.Asn635Tyr)
c.1777A>T (p.Asn593Tyr)
c.1900A>T (p.Asn634Tyr)
c.1825A>T (p.Asn609Tyr)
c.784+1116A>T (n.784+1116A>T)
c.646+1116A>T (n.646+1116A>T)
c.1015A>T (p.Asn339Tyr)
c.1780A>T (p.Asn594Tyr)
c.1762A>T (p.Asn588Tyr)
c.664+1116A>T (n.664+1116A>T)
c.706+1116A>T (n.706+1116A>T)
c.670+2218A>T (n.670+2218A>T)
c.1254A>T
c.*1686A>T (n.*1686A>T)
c.787+1116A>T (n.787+1116A>T)
c.409+1116A>T (n.409+1116A>T)
c.412+1116A>T (n.412+1116A>T)
c.5-29677A>T (n.5-29677A>T)
c.-43-19107A>T (n.-43-19107A>T)
c.-99+31643A>T (n.-99+31643A>T)
n.2039A>T
n.2080A>T
 dbSNP
17g.43093628T>CCA10598220BRCA1n.1967A>G
c.1903A>G (p.Asn635Asp)
c.1777A>G (p.Asn593Asp)
c.1900A>G (p.Asn634Asp)
c.1825A>G (p.Asn609Asp)
c.784+1116A>G (n.784+1116A>G)
c.646+1116A>G (n.646+1116A>G)
c.1015A>G (p.Asn339Asp)
c.1780A>G (p.Asn594Asp)
c.1762A>G (p.Asn588Asp)
c.664+1116A>G (n.664+1116A>G)
c.706+1116A>G (n.706+1116A>G)
c.670+2218A>G (n.670+2218A>G)
c.1254A>G
c.*1686A>G (n.*1686A>G)
c.787+1116A>G (n.787+1116A>G)
c.409+1116A>G (n.409+1116A>G)
c.412+1116A>G (n.412+1116A>G)
c.5-29677A>G (n.5-29677A>G)
c.-43-19107A>G (n.-43-19107A>G)
c.-99+31643A>G (n.-99+31643A>G)
n.2039A>G
n.2080A>G
 ClinVar dbSNP
17g.43093628T>GCA10598221BRCA1n.1967A>C
c.1903A>C (p.Asn635His)
c.1777A>C (p.Asn593His)
c.1900A>C (p.Asn634His)
c.1825A>C (p.Asn609His)
c.784+1116A>C (n.784+1116A>C)
c.646+1116A>C (n.646+1116A>C)
c.1015A>C (p.Asn339His)
c.1780A>C (p.Asn594His)
c.1762A>C (p.Asn588His)
c.664+1116A>C (n.664+1116A>C)
c.706+1116A>C (n.706+1116A>C)
c.670+2218A>C (n.670+2218A>C)
c.1254A>C
c.*1686A>C (n.*1686A>C)
c.787+1116A>C (n.787+1116A>C)
c.409+1116A>C (n.409+1116A>C)
c.412+1116A>C (n.412+1116A>C)
c.5-29677A>C (n.5-29677A>C)
c.-43-19107A>C (n.-43-19107A>C)
c.-99+31643A>C (n.-99+31643A>C)
n.2039A>C
n.2080A>C
17g.43093628T=CA2260784169BRCA1n.1967A=
c.1903A= (p.Asn635=)
c.1777A= (p.Asn593=)
c.1900A= (p.Asn634=)
c.1825A= (p.Asn609=)
c.784+1116A= (n.784+1116A=)
c.646+1116A= (n.646+1116A=)
c.1015A= (p.Asn339=)
c.1780A= (p.Asn594=)
c.1762A= (p.Asn588=)
c.664+1116A= (n.664+1116A=)
c.706+1116A= (n.706+1116A=)
c.670+2218A= (n.670+2218A=)
c.1254A=
c.*1686A= (n.*1686A=)
c.787+1116A= (n.787+1116A=)
c.409+1116A= (n.409+1116A=)
c.412+1116A= (n.412+1116A=)
c.5-29677A= (n.5-29677A=)
c.-43-19107A= (n.-43-19107A=)
c.-99+31643A= (n.-99+31643A=)
n.2039A=
n.2080A=
17g.43093629A>CCA500232772BRCA1n.1966T>G
c.1902T>G (p.Pro634=)
c.1776T>G (p.Pro592=)
c.1899T>G (p.Pro633=)
c.1824T>G (p.Pro608=)
c.784+1115T>G (n.784+1115T>G)
c.646+1115T>G (n.646+1115T>G)
c.1014T>G (p.Pro338=)
c.1779T>G (p.Pro593=)
c.1761T>G (p.Pro587=)
c.664+1115T>G (n.664+1115T>G)
c.706+1115T>G (n.706+1115T>G)
c.670+2217T>G (n.670+2217T>G)
c.1253T>G
c.*1685T>G (n.*1685T>G)
c.787+1115T>G (n.787+1115T>G)
c.409+1115T>G (n.409+1115T>G)
c.412+1115T>G (n.412+1115T>G)
c.5-29678T>G (n.5-29678T>G)
c.-43-19108T>G (n.-43-19108T>G)
c.-99+31642T>G (n.-99+31642T>G)
n.2038T>G
n.2079T>G
17g.43093629A>GCA500232773BRCA1n.1966T>C
c.1902T>C (p.Pro634=)
c.1776T>C (p.Pro592=)
c.1899T>C (p.Pro633=)
c.1824T>C (p.Pro608=)
c.784+1115T>C (n.784+1115T>C)
c.646+1115T>C (n.646+1115T>C)
c.1014T>C (p.Pro338=)
c.1779T>C (p.Pro593=)
c.1761T>C (p.Pro587=)
c.664+1115T>C (n.664+1115T>C)
c.706+1115T>C (n.706+1115T>C)
c.670+2217T>C (n.670+2217T>C)
c.1253T>C
c.*1685T>C (n.*1685T>C)
c.787+1115T>C (n.787+1115T>C)
c.409+1115T>C (n.409+1115T>C)
c.412+1115T>C (n.412+1115T>C)
c.5-29678T>C (n.5-29678T>C)
c.-43-19108T>C (n.-43-19108T>C)
c.-99+31642T>C (n.-99+31642T>C)
n.2038T>C
n.2079T>C
 ClinVar dbSNP
17g.43093629A>TCA500232774BRCA1n.1966T>A
c.1902T>A (p.Pro634=)
c.1776T>A (p.Pro592=)
c.1899T>A (p.Pro633=)
c.1824T>A (p.Pro608=)
c.784+1115T>A (n.784+1115T>A)
c.646+1115T>A (n.646+1115T>A)
c.1014T>A (p.Pro338=)
c.1779T>A (p.Pro593=)
c.1761T>A (p.Pro587=)
c.664+1115T>A (n.664+1115T>A)
c.706+1115T>A (n.706+1115T>A)
c.670+2217T>A (n.670+2217T>A)
c.1253T>A
c.*1685T>A (n.*1685T>A)
c.787+1115T>A (n.787+1115T>A)
c.409+1115T>A (n.409+1115T>A)
c.412+1115T>A (n.412+1115T>A)
c.5-29678T>A (n.5-29678T>A)
c.-43-19108T>A (n.-43-19108T>A)
c.-99+31642T>A (n.-99+31642T>A)
n.2038T>A
n.2079T>A
 ClinVar dbSNP
17g.43093629dupCA913190563BRCA1n.1966dup
c.1902dup (p.Asn635Ter)
c.1776dup (p.Asn593Ter)
c.1899dup (p.Asn634Ter)
c.1824dup (p.Asn609Ter)
c.784+1115dup (n.784+1115dup)
c.646+1115dup (n.646+1115dup)
c.1014dup (p.Asn339Ter)
c.1779dup (p.Asn594Ter)
c.1761dup (p.Asn588Ter)
c.664+1115dup (n.664+1115dup)
c.706+1115dup (n.706+1115dup)
c.670+2217dup (n.670+2217dup)
c.1253dup
c.*1685dup (n.*1685dup)
c.787+1115dup (n.787+1115dup)
c.409+1115dup (n.409+1115dup)
c.412+1115dup (n.412+1115dup)
c.5-29678dup (n.5-29678dup)
c.-43-19108dup (n.-43-19108dup)
c.-99+31642dup (n.-99+31642dup)
n.2038dup
n.2079dup
 ClinVar dbSNP
17g.43093631_43093664delCA2580094107BRCA1n.1933_1966del
c.1869_1902del (p.Glu624IlefsTer16)
c.1743_1776del (p.Glu582IlefsTer16)
c.1866_1899del (p.Glu623IlefsTer16)
c.1791_1824del (p.Glu598IlefsTer16)
c.784+1082_784+1115del (n.784+1082_784+1115del)
c.646+1082_646+1115del (n.646+1082_646+1115del)
c.981_1014del (p.Glu328IlefsTer16)
c.1746_1779del (p.Glu583IlefsTer16)
c.1728_1761del (p.Glu577IlefsTer16)
c.664+1082_664+1115del (n.664+1082_664+1115del)
c.706+1082_706+1115del (n.706+1082_706+1115del)
c.1728_1761del (p.Glu577IlefsTer?)
c.670+2184_670+2217del (n.670+2184_670+2217del)
c.1220_1253del
c.*1652_*1685del (n.*1652_*1685del)
c.787+1082_787+1115del (n.787+1082_787+1115del)
c.1869_1902del (p.Glu624IlefsTer?)
c.1791_1824del (p.Glu598IlefsTer?)
c.409+1082_409+1115del (n.409+1082_409+1115del)
c.412+1082_412+1115del (n.412+1082_412+1115del)
c.5-29711_5-29678del (n.5-29711_5-29678del)
c.-43-19141_-43-19108del (n.-43-19141_-43-19108del)
c.-99+31609_-99+31642del (n.-99+31609_-99+31642del)
n.2005_2038del
n.2046_2079del
 ClinVar
17g.43093630G>ACA001244BRCA1n.1965C>T
c.1901C>T (p.Pro634Leu)
c.1775C>T (p.Pro592Leu)
c.1898C>T (p.Pro633Leu)
c.1823C>T (p.Pro608Leu)
c.784+1114C>T (n.784+1114C>T)
c.646+1114C>T (n.646+1114C>T)
c.1013C>T (p.Pro338Leu)
c.1778C>T (p.Pro593Leu)
c.1760C>T (p.Pro587Leu)
c.664+1114C>T (n.664+1114C>T)
c.706+1114C>T (n.706+1114C>T)
c.670+2216C>T (n.670+2216C>T)
c.1252C>T
c.*1684C>T (n.*1684C>T)
c.787+1114C>T (n.787+1114C>T)
c.409+1114C>T (n.409+1114C>T)
c.412+1114C>T (n.412+1114C>T)
c.5-29679C>T (n.5-29679C>T)
c.-43-19109C>T (n.-43-19109C>T)
c.-99+31641C>T (n.-99+31641C>T)
n.2037C>T
n.2078C>T
 ClinVar dbSNP
17g.43093630G>CCA001243BRCA1n.1965C>G
c.1901C>G (p.Pro634Arg)
c.1775C>G (p.Pro592Arg)
c.1898C>G (p.Pro633Arg)
c.1823C>G (p.Pro608Arg)
c.784+1114C>G (n.784+1114C>G)
c.646+1114C>G (n.646+1114C>G)
c.1013C>G (p.Pro338Arg)
c.1778C>G (p.Pro593Arg)
c.1760C>G (p.Pro587Arg)
c.664+1114C>G (n.664+1114C>G)
c.706+1114C>G (n.706+1114C>G)
c.670+2216C>G (n.670+2216C>G)
c.1252C>G
c.*1684C>G (n.*1684C>G)
c.787+1114C>G (n.787+1114C>G)
c.409+1114C>G (n.409+1114C>G)
c.412+1114C>G (n.412+1114C>G)
c.5-29679C>G (n.5-29679C>G)
c.-43-19109C>G (n.-43-19109C>G)
c.-99+31641C>G (n.-99+31641C>G)
n.2037C>G
n.2078C>G
 ClinVar dbSNP
17g.43093630G=CA2260784170BRCA1n.1965C=
c.1901C= (p.Pro634=)
c.1775C= (p.Pro592=)
c.1898C= (p.Pro633=)
c.1823C= (p.Pro608=)
c.784+1114C= (n.784+1114C=)
c.646+1114C= (n.646+1114C=)
c.1013C= (p.Pro338=)
c.1778C= (p.Pro593=)
c.1760C= (p.Pro587=)
c.664+1114C= (n.664+1114C=)
c.706+1114C= (n.706+1114C=)
c.670+2216C= (n.670+2216C=)
c.1252C=
c.*1684C= (n.*1684C=)
c.787+1114C= (n.787+1114C=)
c.409+1114C= (n.409+1114C=)
c.412+1114C= (n.412+1114C=)
c.5-29679C= (n.5-29679C=)
c.-43-19109C= (n.-43-19109C=)
c.-99+31641C= (n.-99+31641C=)
n.2037C=
n.2078C=
17g.43093630G>TCA10598222BRCA1n.1965C>A
c.1901C>A (p.Pro634His)
c.1775C>A (p.Pro592His)
c.1898C>A (p.Pro633His)
c.1823C>A (p.Pro608His)
c.784+1114C>A (n.784+1114C>A)
c.646+1114C>A (n.646+1114C>A)
c.1013C>A (p.Pro338His)
c.1778C>A (p.Pro593His)
c.1760C>A (p.Pro587His)
c.664+1114C>A (n.664+1114C>A)
c.706+1114C>A (n.706+1114C>A)
c.670+2216C>A (n.670+2216C>A)
c.1252C>A
c.*1684C>A (n.*1684C>A)
c.787+1114C>A (n.787+1114C>A)
c.409+1114C>A (n.409+1114C>A)
c.412+1114C>A (n.412+1114C>A)
c.5-29679C>A (n.5-29679C>A)
c.-43-19109C>A (n.-43-19109C>A)
c.-99+31641C>A (n.-99+31641C>A)
n.2037C>A
n.2078C>A
 dbSNP
17g.43093630_43093631insATTTGTGGGCTTAACA2499224530BRCA1n.1964_1965insTTAAGCCCACAAAT
c.1900_1901insTTAAGCCCACAAAT (p.Pro634LeufsTer22)
c.1774_1775insTTAAGCCCACAAAT (p.Pro592LeufsTer22)
c.1897_1898insTTAAGCCCACAAAT (p.Pro633LeufsTer22)
c.1822_1823insTTAAGCCCACAAAT (p.Pro608LeufsTer22)
c.784+1113_784+1114insTTAAGCCCACAAAT (n.784+1113_784+1114insTTAAGCCCACAAAT)
c.646+1113_646+1114insTTAAGCCCACAAAT (n.646+1113_646+1114insTTAAGCCCACAAAT)
c.1012_1013insTTAAGCCCACAAAT (p.Pro338LeufsTer22)
c.1777_1778insTTAAGCCCACAAAT (p.Pro593LeufsTer22)
c.1759_1760insTTAAGCCCACAAAT (p.Pro587LeufsTer22)
c.664+1113_664+1114insTTAAGCCCACAAAT (n.664+1113_664+1114insTTAAGCCCACAAAT)
c.706+1113_706+1114insTTAAGCCCACAAAT (n.706+1113_706+1114insTTAAGCCCACAAAT)
c.1759_1760insTTAAGCCCACAAAT (p.Pro587LeufsTer?)
c.670+2215_670+2216insTTAAGCCCACAAAT (n.670+2215_670+2216insTTAAGCCCACAAAT)
c.1251_1252insTTAAGCCCACAAAT
c.*1683_*1684insTTAAGCCCACAAAT (n.*1683_*1684insTTAAGCCCACAAAT)
c.787+1113_787+1114insTTAAGCCCACAAAT (n.787+1113_787+1114insTTAAGCCCACAAAT)
c.1900_1901insTTAAGCCCACAAAT (p.Pro634LeufsTer?)
c.1822_1823insTTAAGCCCACAAAT (p.Pro608LeufsTer?)
c.409+1113_409+1114insTTAAGCCCACAAAT (n.409+1113_409+1114insTTAAGCCCACAAAT)
c.412+1113_412+1114insTTAAGCCCACAAAT (n.412+1113_412+1114insTTAAGCCCACAAAT)
c.5-29680_5-29679insTTAAGCCCACAAAT (n.5-29680_5-29679insTTAAGCCCACAAAT)
c.-43-19110_-43-19109insTTAAGCCCACAAAT (n.-43-19110_-43-19109insTTAAGCCCACAAAT)
c.-99+31640_-99+31641insTTAAGCCCACAAAT (n.-99+31640_-99+31641insTTAAGCCCACAAAT)
n.2036_2037insTTAAGCCCACAAAT
n.2077_2078insTTAAGCCCACAAAT
17g.43093631G>ACA001241BRCA1n.1964C>T
c.1900C>T (p.Pro634Ser)
c.1774C>T (p.Pro592Ser)
c.1897C>T (p.Pro633Ser)
c.1822C>T (p.Pro608Ser)
c.784+1113C>T (n.784+1113C>T)
c.646+1113C>T (n.646+1113C>T)
c.1012C>T (p.Pro338Ser)
c.1777C>T (p.Pro593Ser)
c.1759C>T (p.Pro587Ser)
c.664+1113C>T (n.664+1113C>T)
c.706+1113C>T (n.706+1113C>T)
c.670+2215C>T (n.670+2215C>T)
c.1251C>T
c.*1683C>T (n.*1683C>T)
c.787+1113C>T (n.787+1113C>T)
c.409+1113C>T (n.409+1113C>T)
c.412+1113C>T (n.412+1113C>T)
c.5-29680C>T (n.5-29680C>T)
c.-43-19110C>T (n.-43-19110C>T)
c.-99+31640C>T (n.-99+31640C>T)
n.2036C>T
n.2077C>T
 ClinVar dbSNP gnomAD v4
17g.43093631G>CCA10598223BRCA1n.1964C>G
c.1900C>G (p.Pro634Ala)
c.1774C>G (p.Pro592Ala)
c.1897C>G (p.Pro633Ala)
c.1822C>G (p.Pro608Ala)
c.784+1113C>G (n.784+1113C>G)
c.646+1113C>G (n.646+1113C>G)
c.1012C>G (p.Pro338Ala)
c.1777C>G (p.Pro593Ala)
c.1759C>G (p.Pro587Ala)
c.664+1113C>G (n.664+1113C>G)
c.706+1113C>G (n.706+1113C>G)
c.670+2215C>G (n.670+2215C>G)
c.1251C>G
c.*1683C>G (n.*1683C>G)
c.787+1113C>G (n.787+1113C>G)
c.409+1113C>G (n.409+1113C>G)
c.412+1113C>G (n.412+1113C>G)
c.5-29680C>G (n.5-29680C>G)
c.-43-19110C>G (n.-43-19110C>G)
c.-99+31640C>G (n.-99+31640C>G)
n.2036C>G
n.2077C>G
 dbSNP
17g.43093631G=CA2260784171BRCA1n.1964C=
c.1900C= (p.Pro634=)
c.1774C= (p.Pro592=)
c.1897C= (p.Pro633=)
c.1822C= (p.Pro608=)
c.784+1113C= (n.784+1113C=)
c.646+1113C= (n.646+1113C=)
c.1012C= (p.Pro338=)
c.1777C= (p.Pro593=)
c.1759C= (p.Pro587=)
c.664+1113C= (n.664+1113C=)
c.706+1113C= (n.706+1113C=)
c.670+2215C= (n.670+2215C=)
c.1251C=
c.*1683C= (n.*1683C=)
c.787+1113C= (n.787+1113C=)
c.409+1113C= (n.409+1113C=)
c.412+1113C= (n.412+1113C=)
c.5-29680C= (n.5-29680C=)
c.-43-19110C= (n.-43-19110C=)
c.-99+31640C= (n.-99+31640C=)
n.2036C=
n.2077C=
17g.43093631G>TCA10598224BRCA1n.1964C>A
c.1900C>A (p.Pro634Thr)
c.1774C>A (p.Pro592Thr)
c.1897C>A (p.Pro633Thr)
c.1822C>A (p.Pro608Thr)
c.784+1113C>A (n.784+1113C>A)
c.646+1113C>A (n.646+1113C>A)
c.1012C>A (p.Pro338Thr)
c.1777C>A (p.Pro593Thr)
c.1759C>A (p.Pro587Thr)
c.664+1113C>A (n.664+1113C>A)
c.706+1113C>A (n.706+1113C>A)
c.670+2215C>A (n.670+2215C>A)
c.1251C>A
c.*1683C>A (n.*1683C>A)
c.787+1113C>A (n.787+1113C>A)
c.409+1113C>A (n.409+1113C>A)
c.412+1113C>A (n.412+1113C>A)
c.5-29680C>A (n.5-29680C>A)
c.-43-19110C>A (n.-43-19110C>A)
c.-99+31640C>A (n.-99+31640C>A)
n.2036C>A
n.2077C>A
 dbSNP
17g.43093631_43093644dupCA10589912BRCA1n.1951_1964dup
c.1887_1900dup (p.Pro634GlnfsTer3)
c.1761_1774dup (p.Pro592GlnfsTer3)
c.1884_1897dup (p.Pro633GlnfsTer3)
c.1809_1822dup (p.Pro608GlnfsTer3)
c.784+1100_784+1113dup (n.784+1100_784+1113dup)
c.646+1100_646+1113dup (n.646+1100_646+1113dup)
c.999_1012dup (p.Pro338GlnfsTer3)
c.1764_1777dup (p.Pro593GlnfsTer3)
c.1746_1759dup (p.Pro587GlnfsTer3)
c.664+1100_664+1113dup (n.664+1100_664+1113dup)
c.706+1100_706+1113dup (n.706+1100_706+1113dup)
c.670+2202_670+2215dup (n.670+2202_670+2215dup)
c.1238_1251dup
c.*1670_*1683dup (n.*1670_*1683dup)
c.787+1100_787+1113dup (n.787+1100_787+1113dup)
c.409+1100_409+1113dup (n.409+1100_409+1113dup)
c.412+1100_412+1113dup (n.412+1100_412+1113dup)
c.5-29693_5-29680dup (n.5-29693_5-29680dup)
c.-43-19123_-43-19110dup (n.-43-19123_-43-19110dup)
c.-99+31627_-99+31640dup (n.-99+31627_-99+31640dup)
n.2023_2036dup
n.2064_2077dup
 ClinVar dbSNP
17g.43093632T>ACA500232775BRCA1n.1963A>T
c.1899A>T (p.Pro633=)
c.1773A>T (p.Pro591=)
c.1896A>T (p.Pro632=)
c.1821A>T (p.Pro607=)
c.784+1112A>T (n.784+1112A>T)
c.646+1112A>T (n.646+1112A>T)
c.1011A>T (p.Pro337=)
c.1776A>T (p.Pro592=)
c.1758A>T (p.Pro586=)
c.664+1112A>T (n.664+1112A>T)
c.706+1112A>T (n.706+1112A>T)
c.670+2214A>T (n.670+2214A>T)
c.1250A>T
c.*1682A>T (n.*1682A>T)
c.787+1112A>T (n.787+1112A>T)
c.409+1112A>T (n.409+1112A>T)
c.412+1112A>T (n.412+1112A>T)
c.5-29681A>T (n.5-29681A>T)
c.-43-19111A>T (n.-43-19111A>T)
c.-99+31639A>T (n.-99+31639A>T)
n.2035A>T
n.2076A>T
17g.43093632T>CCA500232776BRCA1n.1963A>G
c.1899A>G (p.Pro633=)
c.1773A>G (p.Pro591=)
c.1896A>G (p.Pro632=)
c.1821A>G (p.Pro607=)
c.784+1112A>G (n.784+1112A>G)
c.646+1112A>G (n.646+1112A>G)
c.1011A>G (p.Pro337=)
c.1776A>G (p.Pro592=)
c.1758A>G (p.Pro586=)
c.664+1112A>G (n.664+1112A>G)
c.706+1112A>G (n.706+1112A>G)
c.670+2214A>G (n.670+2214A>G)
c.1250A>G
c.*1682A>G (n.*1682A>G)
c.787+1112A>G (n.787+1112A>G)
c.409+1112A>G (n.409+1112A>G)
c.412+1112A>G (n.412+1112A>G)
c.5-29681A>G (n.5-29681A>G)
c.-43-19111A>G (n.-43-19111A>G)
c.-99+31639A>G (n.-99+31639A>G)
n.2035A>G
n.2076A>G
17g.43093632T>GCA500232777BRCA1n.1963A>C
c.1899A>C (p.Pro633=)
c.1773A>C (p.Pro591=)
c.1896A>C (p.Pro632=)
c.1821A>C (p.Pro607=)
c.784+1112A>C (n.784+1112A>C)
c.646+1112A>C (n.646+1112A>C)
c.1011A>C (p.Pro337=)
c.1776A>C (p.Pro592=)
c.1758A>C (p.Pro586=)
c.664+1112A>C (n.664+1112A>C)
c.706+1112A>C (n.706+1112A>C)
c.670+2214A>C (n.670+2214A>C)
c.1250A>C
c.*1682A>C (n.*1682A>C)
c.787+1112A>C (n.787+1112A>C)
c.409+1112A>C (n.409+1112A>C)
c.412+1112A>C (n.412+1112A>C)
c.5-29681A>C (n.5-29681A>C)
c.-43-19111A>C (n.-43-19111A>C)
c.-99+31639A>C (n.-99+31639A>C)
n.2035A>C
n.2076A>C
17g.43093632_43093633delinsTGCA2260784172BRCA1n.1962_1963delinsCA
c.1898_1899delinsCA (p.Pro633=)
c.1772_1773delinsCA (p.Pro591=)
c.1895_1896delinsCA (p.Pro632=)
c.1820_1821delinsCA (p.Pro607=)
c.784+1111_784+1112delinsCA (n.784+1111_784+1112delinsCA)
c.646+1111_646+1112delinsCA (n.646+1111_646+1112delinsCA)
c.1010_1011delinsCA (p.Pro337=)
c.1775_1776delinsCA (p.Pro592=)
c.1757_1758delinsCA (p.Pro586=)
c.664+1111_664+1112delinsCA (n.664+1111_664+1112delinsCA)
c.706+1111_706+1112delinsCA (n.706+1111_706+1112delinsCA)
c.670+2213_670+2214delinsCA (n.670+2213_670+2214delinsCA)
c.1249_1250delinsCA
c.*1681_*1682delinsCA (n.*1681_*1682delinsCA)
c.787+1111_787+1112delinsCA (n.787+1111_787+1112delinsCA)
c.409+1111_409+1112delinsCA (n.409+1111_409+1112delinsCA)
c.412+1111_412+1112delinsCA (n.412+1111_412+1112delinsCA)
c.5-29682_5-29681delinsCA (n.5-29682_5-29681delinsCA)
c.-43-19112_-43-19111delinsCA (n.-43-19112_-43-19111delinsCA)
c.-99+31638_-99+31639delinsCA (n.-99+31638_-99+31639delinsCA)
n.2034_2035delinsCA
n.2075_2076delinsCA
17g.43093632_43093633insATTTGTGGGCTTAACA2499224531BRCA1n.1962_1963insTTAAGCCCACAAAT
c.1898_1899insTTAAGCCCACAAAT (p.Pro634Ter)
c.1772_1773insTTAAGCCCACAAAT (p.Pro592Ter)
c.1895_1896insTTAAGCCCACAAAT (p.Pro633Ter)
c.1820_1821insTTAAGCCCACAAAT (p.Pro608Ter)
c.784+1111_784+1112insTTAAGCCCACAAAT (n.784+1111_784+1112insTTAAGCCCACAAAT)
c.646+1111_646+1112insTTAAGCCCACAAAT (n.646+1111_646+1112insTTAAGCCCACAAAT)
c.1010_1011insTTAAGCCCACAAAT (p.Pro338Ter)
c.1775_1776insTTAAGCCCACAAAT (p.Pro593Ter)
c.1757_1758insTTAAGCCCACAAAT (p.Pro587Ter)
c.664+1111_664+1112insTTAAGCCCACAAAT (n.664+1111_664+1112insTTAAGCCCACAAAT)
c.706+1111_706+1112insTTAAGCCCACAAAT (n.706+1111_706+1112insTTAAGCCCACAAAT)
c.670+2213_670+2214insTTAAGCCCACAAAT (n.670+2213_670+2214insTTAAGCCCACAAAT)
c.1249_1250insTTAAGCCCACAAAT
c.*1681_*1682insTTAAGCCCACAAAT (n.*1681_*1682insTTAAGCCCACAAAT)
c.787+1111_787+1112insTTAAGCCCACAAAT (n.787+1111_787+1112insTTAAGCCCACAAAT)
c.409+1111_409+1112insTTAAGCCCACAAAT (n.409+1111_409+1112insTTAAGCCCACAAAT)
c.412+1111_412+1112insTTAAGCCCACAAAT (n.412+1111_412+1112insTTAAGCCCACAAAT)
c.5-29682_5-29681insTTAAGCCCACAAAT (n.5-29682_5-29681insTTAAGCCCACAAAT)
c.-43-19112_-43-19111insTTAAGCCCACAAAT (n.-43-19112_-43-19111insTTAAGCCCACAAAT)
c.-99+31638_-99+31639insTTAAGCCCACAAAT (n.-99+31638_-99+31639insTTAAGCCCACAAAT)
n.2034_2035insTTAAGCCCACAAAT
n.2075_2076insTTAAGCCCACAAAT
17g.43093633G>ACA001238BRCA1n.1962C>T
c.1898C>T (p.Pro633Leu)
c.1772C>T (p.Pro591Leu)
c.1895C>T (p.Pro632Leu)
c.1820C>T (p.Pro607Leu)
c.784+1111C>T (n.784+1111C>T)
c.646+1111C>T (n.646+1111C>T)
c.1010C>T (p.Pro337Leu)
c.1775C>T (p.Pro592Leu)
c.1757C>T (p.Pro586Leu)
c.664+1111C>T (n.664+1111C>T)
c.706+1111C>T (n.706+1111C>T)
c.670+2213C>T (n.670+2213C>T)
c.1249C>T
c.*1681C>T (n.*1681C>T)
c.787+1111C>T (n.787+1111C>T)
c.409+1111C>T (n.409+1111C>T)
c.412+1111C>T (n.412+1111C>T)
c.5-29682C>T (n.5-29682C>T)
c.-43-19112C>T (n.-43-19112C>T)
c.-99+31638C>T (n.-99+31638C>T)
n.2034C>T
n.2075C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43093633G>CCA10598225BRCA1n.1962C>G
c.1898C>G (p.Pro633Arg)
c.1772C>G (p.Pro591Arg)
c.1895C>G (p.Pro632Arg)
c.1820C>G (p.Pro607Arg)
c.784+1111C>G (n.784+1111C>G)
c.646+1111C>G (n.646+1111C>G)
c.1010C>G (p.Pro337Arg)
c.1775C>G (p.Pro592Arg)
c.1757C>G (p.Pro586Arg)
c.664+1111C>G (n.664+1111C>G)
c.706+1111C>G (n.706+1111C>G)
c.670+2213C>G (n.670+2213C>G)
c.1249C>G
c.*1681C>G (n.*1681C>G)
c.787+1111C>G (n.787+1111C>G)
c.409+1111C>G (n.409+1111C>G)
c.412+1111C>G (n.412+1111C>G)
c.5-29682C>G (n.5-29682C>G)
c.-43-19112C>G (n.-43-19112C>G)
c.-99+31638C>G (n.-99+31638C>G)
n.2034C>G
n.2075C>G
 dbSNP
17g.43093633G=CA2260784173BRCA1n.1962C=
c.1898C= (p.Pro633=)
c.1772C= (p.Pro591=)
c.1895C= (p.Pro632=)
c.1820C= (p.Pro607=)
c.784+1111C= (n.784+1111C=)
c.646+1111C= (n.646+1111C=)
c.1010C= (p.Pro337=)
c.1775C= (p.Pro592=)
c.1757C= (p.Pro586=)
c.664+1111C= (n.664+1111C=)
c.706+1111C= (n.706+1111C=)
c.670+2213C= (n.670+2213C=)
c.1249C=
c.*1681C= (n.*1681C=)
c.787+1111C= (n.787+1111C=)
c.409+1111C= (n.409+1111C=)
c.412+1111C= (n.412+1111C=)
c.5-29682C= (n.5-29682C=)
c.-43-19112C= (n.-43-19112C=)
c.-99+31638C= (n.-99+31638C=)
n.2034C=
n.2075C=
17g.43093633G>TCA10598226BRCA1n.1962C>A
c.1898C>A (p.Pro633Gln)
c.1772C>A (p.Pro591Gln)
c.1895C>A (p.Pro632Gln)
c.1820C>A (p.Pro607Gln)
c.784+1111C>A (n.784+1111C>A)
c.646+1111C>A (n.646+1111C>A)
c.1010C>A (p.Pro337Gln)
c.1775C>A (p.Pro592Gln)
c.1757C>A (p.Pro586Gln)
c.664+1111C>A (n.664+1111C>A)
c.706+1111C>A (n.706+1111C>A)
c.670+2213C>A (n.670+2213C>A)
c.1249C>A
c.*1681C>A (n.*1681C>A)
c.787+1111C>A (n.787+1111C>A)
c.409+1111C>A (n.409+1111C>A)
c.412+1111C>A (n.412+1111C>A)
c.5-29682C>A (n.5-29682C>A)
c.-43-19112C>A (n.-43-19112C>A)
c.-99+31638C>A (n.-99+31638C>A)
n.2034C>A
n.2075C>A
 dbSNP

Number of alleles fetched