Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.43093751_43094887delCA10602596BRCA1n.735-26_1845del
c.671-26_1781del
c.545-26_1655del
c.668-26_1778del
c.593-26_1703del
c.668-26_784+994del
c.530-26_646+994del
c.-218-26_893del
c.548-26_1658del
c.530-26_1640del
c.548-26_664+994del
c.590-26_706+994del
c.670+960_670+2096del (n.670+960_670+2096del)
c.22-26_1132del
c.*454-26_*1564del
c.671-26_787+994del
c.293-26_409+994del
c.296-26_412+994del
c.4+30296_5-29799del (n.4+30296_5-29799del)
c.-43-20365_-43-19229del (n.-43-20365_-43-19229del)
c.-99+30385_-99+31521del (n.-99+30385_-99+31521del)
n.807-26_1917del
n.848-26_1958del
 ClinVar
17g.43093881_43094860dupCA2580618106BRCA1n.735_1714dup
c.671_1650dup (p.Ser551LeufsTer10)
c.545_1524dup (p.Ser509LeufsTer10)
c.668_1647dup (p.Ser550LeufsTer10)
c.593_1572dup (p.Ser525LeufsTer10)
c.668_784+863dup
c.530_646+863dup
c.-218_762dup (p.Ser255LeufsTer10)
c.548_1527dup (p.Ser510LeufsTer10)
c.530_1509dup (p.Ser504LeufsTer10)
c.548_664+863dup
c.590_706+863dup
c.670+986_670+1965dup (n.670+986_670+1965dup)
c.22_1001dup
c.*454_*1433dup (n.*454_*1433dup)
c.671_787+863dup
c.293_409+863dup
c.296_412+863dup
c.4+30322_5-29930dup (n.4+30322_5-29930dup)
c.-43-20339_-43-19360dup (n.-43-20339_-43-19360dup)
c.-99+30411_-99+31390dup (n.-99+30411_-99+31390dup)
n.807_1786dup
n.848_1827dup
17g.43094311_43094354delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA2260784808BRCA1n.1241_1284delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu393=)
c.1051_1094delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu351=)
c.1174_1217delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu392=)
c.1099_1142delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu367=)
c.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.289_332delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu97=)
c.1054_1097delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu352=)
c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu346=)
c.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.528_571delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
c.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.774_817delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
c.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
n.1313_1356delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
n.1354_1397delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
17g.43094312_43094356delinsCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACACA2260784810BRCA1n.1239_1283delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
c.1175_1219delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu392=)
c.1049_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu350=)
c.1172_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu391=)
c.1097_1141delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu366=)
c.784+388_784+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.784+388_784+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.646+388_646+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.646+388_646+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.287_331delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu96=)
c.1052_1096delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu351=)
c.1034_1078delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu345=)
c.664+388_664+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.664+388_664+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.706+388_706+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.706+388_706+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.*1183_*1227delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*1183_*1227delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.670+1490_670+1534delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.670+1490_670+1534delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.526_570delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
c.*958_*1002delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*958_*1002delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.787+388_787+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.787+388_787+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.772_816delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
c.409+388_409+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.409+388_409+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.412+388_412+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.412+388_412+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.*1111_*1155delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*1111_*1155delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.5-30405_5-30361delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.5-30405_5-30361delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.-43-19835_-43-19791delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.-43-19835_-43-19791delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.-99+30915_-99+30959delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.-99+30915_-99+30959delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
n.1311_1355delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
n.1352_1396delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
17g.43094314_43094356delCA000780BRCA1n.1241_1283del
c.1177_1219del (p.Leu393ProfsTer3)
c.1051_1093del (p.Leu351ProfsTer3)
c.1174_1216del (p.Leu392ProfsTer3)
c.1099_1141del (p.Leu367ProfsTer3)
c.784+390_784+432del (n.784+390_784+432del)
c.646+390_646+432del (n.646+390_646+432del)
c.289_331del (p.Leu97ProfsTer3)
c.1054_1096del (p.Leu352ProfsTer3)
c.1036_1078del (p.Leu346ProfsTer3)
c.664+390_664+432del (n.664+390_664+432del)
c.706+390_706+432del (n.706+390_706+432del)
c.*1185_*1227del (n.*1185_*1227del)
c.670+1492_670+1534del (n.670+1492_670+1534del)
c.528_570del
c.*960_*1002del (n.*960_*1002del)
c.787+390_787+432del (n.787+390_787+432del)
c.774_816del
c.409+390_409+432del (n.409+390_409+432del)
c.412+390_412+432del (n.412+390_412+432del)
c.*1113_*1155del (n.*1113_*1155del)
c.5-30403_5-30361del (n.5-30403_5-30361del)
c.-43-19833_-43-19791del (n.-43-19833_-43-19791del)
c.-99+30917_-99+30959del (n.-99+30917_-99+30959del)
n.1313_1355del
n.1354_1396del
 ClinVar dbSNP
17g.43094313_43094356delCA000781BRCA1n.1239_1282del
c.1175_1218del (p.Leu392ArgfsTer5)
c.1049_1092del (p.Leu350ArgfsTer5)
c.1172_1215del (p.Leu391ArgfsTer5)
c.1097_1140del (p.Leu366ArgfsTer5)
c.784+388_784+431del (n.784+388_784+431del)
c.646+388_646+431del (n.646+388_646+431del)
c.287_330del (p.Leu96ArgfsTer5)
c.1052_1095del (p.Leu351ArgfsTer5)
c.1034_1077del (p.Leu345ArgfsTer5)
c.664+388_664+431del (n.664+388_664+431del)
c.706+388_706+431del (n.706+388_706+431del)
c.*1183_*1226del (n.*1183_*1226del)
c.670+1490_670+1533del (n.670+1490_670+1533del)
c.526_569del
c.*958_*1001del (n.*958_*1001del)
c.787+388_787+431del (n.787+388_787+431del)
c.772_815del
c.409+388_409+431del (n.409+388_409+431del)
c.412+388_412+431del (n.412+388_412+431del)
c.*1111_*1154del (n.*1111_*1154del)
c.5-30405_5-30362del (n.5-30405_5-30362del)
c.-43-19835_-43-19792del (n.-43-19835_-43-19792del)
c.-99+30915_-99+30958del (n.-99+30915_-99+30958del)
n.1311_1354del
n.1352_1395del
 ClinVar dbSNP
17g.43094316dupCA645373210BRCA1n.1281dup
c.1217dup (p.Asn406LysfsTer6)
c.1091dup (p.Asn364LysfsTer6)
c.1214dup (p.Asn405LysfsTer6)
c.1139dup (p.Asn380LysfsTer6)
c.784+430dup (n.784+430dup)
c.646+430dup (n.646+430dup)
c.329dup (p.Asn110LysfsTer6)
c.1094dup (p.Asn365LysfsTer6)
c.1076dup (p.Asn359LysfsTer6)
c.664+430dup (n.664+430dup)
c.706+430dup (n.706+430dup)
c.*1225dup (n.*1225dup)
c.670+1532dup (n.670+1532dup)
c.568dup
c.*1000dup (n.*1000dup)
c.787+430dup (n.787+430dup)
c.814dup
c.409+430dup (n.409+430dup)
c.412+430dup (n.412+430dup)
c.*1153dup (n.*1153dup)
c.5-30363dup (n.5-30363dup)
c.-43-19793dup (n.-43-19793dup)
c.-99+30957dup (n.-99+30957dup)
n.1353dup
n.1394dup
 ClinVar dbSNP
17g.43094316delCA000800BRCA1n.1281del
c.1217del (p.Asn406MetfsTer4)
c.1091del (p.Asn364MetfsTer4)
c.1214del (p.Asn405MetfsTer4)
c.1139del (p.Asn380MetfsTer4)
c.784+430del (n.784+430del)
c.646+430del (n.646+430del)
c.329del (p.Asn110MetfsTer4)
c.1094del (p.Asn365MetfsTer4)
c.1076del (p.Asn359MetfsTer4)
c.664+430del (n.664+430del)
c.706+430del (n.706+430del)
c.*1225del (n.*1225del)
c.670+1532del (n.670+1532del)
c.568del
c.*1000del (n.*1000del)
c.787+430del (n.787+430del)
c.814del
c.409+430del (n.409+430del)
c.412+430del (n.412+430del)
c.*1153del (n.*1153del)
c.5-30363del (n.5-30363del)
c.-43-19793del (n.-43-19793del)
c.-99+30957del (n.-99+30957del)
n.1353del
n.1394del
 ClinVar dbSNP
17g.43094315_43094316delCA2580093909BRCA1n.1280_1281del
c.1216_1217del (p.Asn406CysfsTer5)
c.1090_1091del (p.Asn364CysfsTer5)
c.1213_1214del (p.Asn405CysfsTer5)
c.1138_1139del (p.Asn380CysfsTer5)
c.784+429_784+430del (n.784+429_784+430del)
c.646+429_646+430del (n.646+429_646+430del)
c.328_329del (p.Asn110CysfsTer5)
c.1093_1094del (p.Asn365CysfsTer5)
c.1075_1076del (p.Asn359CysfsTer5)
c.664+429_664+430del (n.664+429_664+430del)
c.706+429_706+430del (n.706+429_706+430del)
c.*1224_*1225del (n.*1224_*1225del)
c.670+1531_670+1532del (n.670+1531_670+1532del)
c.567_568del
c.*999_*1000del (n.*999_*1000del)
c.787+429_787+430del (n.787+429_787+430del)
c.813_814del
c.409+429_409+430del (n.409+429_409+430del)
c.412+429_412+430del (n.412+429_412+430del)
c.*1152_*1153del (n.*1152_*1153del)
c.5-30364_5-30363del (n.5-30364_5-30363del)
c.-43-19794_-43-19793del (n.-43-19794_-43-19793del)
c.-99+30956_-99+30957del (n.-99+30956_-99+30957del)
n.1352_1353del
n.1393_1394del
 ClinVar
17g.43094314_43094356delinsTTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACACA2260784813BRCA1n.1239_1281delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
c.1175_1217delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu392=)
c.1049_1091delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu350=)
c.1172_1214delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu391=)
c.1097_1139delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu366=)
c.784+388_784+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.784+388_784+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.646+388_646+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.646+388_646+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.287_329delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu96=)
c.1052_1094delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu351=)
c.1034_1076delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu345=)
c.664+388_664+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.664+388_664+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.706+388_706+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.706+388_706+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.*1183_*1225delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*1183_*1225delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.670+1490_670+1532delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.670+1490_670+1532delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.526_568delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
c.*958_*1000delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*958_*1000delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.787+388_787+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.787+388_787+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.772_814delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
c.409+388_409+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.409+388_409+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.412+388_412+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.412+388_412+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.*1111_*1153delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*1111_*1153delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.5-30405_5-30363delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.5-30405_5-30363delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.-43-19835_-43-19793delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.-43-19835_-43-19793delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.-99+30915_-99+30957delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.-99+30915_-99+30957delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
n.1311_1353delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
n.1352_1394delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
17g.43094315T>ACA10599619BRCA1n.1280A>T
c.1216A>T (p.Asn406Tyr)
c.1090A>T (p.Asn364Tyr)
c.1213A>T (p.Asn405Tyr)
c.1138A>T (p.Asn380Tyr)
c.784+429A>T (n.784+429A>T)
c.646+429A>T (n.646+429A>T)
c.328A>T (p.Asn110Tyr)
c.1093A>T (p.Asn365Tyr)
c.1075A>T (p.Asn359Tyr)
c.664+429A>T (n.664+429A>T)
c.706+429A>T (n.706+429A>T)
c.*1224A>T (n.*1224A>T)
c.670+1531A>T (n.670+1531A>T)
c.567A>T
c.*999A>T (n.*999A>T)
c.787+429A>T (n.787+429A>T)
c.813A>T
c.409+429A>T (n.409+429A>T)
c.412+429A>T (n.412+429A>T)
c.*1152A>T (n.*1152A>T)
c.5-30364A>T (n.5-30364A>T)
c.-43-19794A>T (n.-43-19794A>T)
c.-99+30956A>T (n.-99+30956A>T)
n.1352A>T
n.1393A>T
 dbSNP
17g.43094315T>CCA10599620BRCA1n.1280A>G
c.1216A>G (p.Asn406Asp)
c.1090A>G (p.Asn364Asp)
c.1213A>G (p.Asn405Asp)
c.1138A>G (p.Asn380Asp)
c.784+429A>G (n.784+429A>G)
c.646+429A>G (n.646+429A>G)
c.328A>G (p.Asn110Asp)
c.1093A>G (p.Asn365Asp)
c.1075A>G (p.Asn359Asp)
c.664+429A>G (n.664+429A>G)
c.706+429A>G (n.706+429A>G)
c.*1224A>G (n.*1224A>G)
c.670+1531A>G (n.670+1531A>G)
c.567A>G
c.*999A>G (n.*999A>G)
c.787+429A>G (n.787+429A>G)
c.813A>G
c.409+429A>G (n.409+429A>G)
c.412+429A>G (n.412+429A>G)
c.*1152A>G (n.*1152A>G)
c.5-30364A>G (n.5-30364A>G)
c.-43-19794A>G (n.-43-19794A>G)
c.-99+30956A>G (n.-99+30956A>G)
n.1352A>G
n.1393A>G
 dbSNP
17g.43094315T>GCA10599621BRCA1n.1280A>C
c.1216A>C (p.Asn406His)
c.1090A>C (p.Asn364His)
c.1213A>C (p.Asn405His)
c.1138A>C (p.Asn380His)
c.784+429A>C (n.784+429A>C)
c.646+429A>C (n.646+429A>C)
c.328A>C (p.Asn110His)
c.1093A>C (p.Asn365His)
c.1075A>C (p.Asn359His)
c.664+429A>C (n.664+429A>C)
c.706+429A>C (n.706+429A>C)
c.*1224A>C (n.*1224A>C)
c.670+1531A>C (n.670+1531A>C)
c.567A>C
c.*999A>C (n.*999A>C)
c.787+429A>C (n.787+429A>C)
c.813A>C
c.409+429A>C (n.409+429A>C)
c.412+429A>C (n.412+429A>C)
c.*1152A>C (n.*1152A>C)
c.5-30364A>C (n.5-30364A>C)
c.-43-19794A>C (n.-43-19794A>C)
c.-99+30956A>C (n.-99+30956A>C)
n.1352A>C
n.1393A>C
17g.43094315_43094355delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACCA2260784815BRCA1n.1240_1280delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu392=)
c.1050_1090delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu350=)
c.1173_1213delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu391=)
c.1098_1138delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu366=)
c.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.288_328delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu96=)
c.1053_1093delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu351=)
c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu345=)
c.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.527_567delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.773_813delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
n.1312_1352delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
n.1353_1393delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
17g.43094315_43094356delCA000779BRCA1n.1239_1280del
c.1175_1216del (p.Leu392_Asn406delinsHis)
c.1049_1090del (p.Leu350_Asn364delinsHis)
c.1172_1213del (p.Leu391_Asn405delinsHis)
c.1097_1138del (p.Leu366_Asn380delinsHis)
c.784+388_784+429del (n.784+388_784+429del)
c.646+388_646+429del (n.646+388_646+429del)
c.287_328del (p.Leu96_Asn110delinsHis)
c.1052_1093del (p.Leu351_Asn365delinsHis)
c.1034_1075del (p.Leu345_Asn359delinsHis)
c.664+388_664+429del (n.664+388_664+429del)
c.706+388_706+429del (n.706+388_706+429del)
c.*1183_*1224del (n.*1183_*1224del)
c.670+1490_670+1531del (n.670+1490_670+1531del)
c.526_567del
c.*958_*999del (n.*958_*999del)
c.787+388_787+429del (n.787+388_787+429del)
c.772_813del
c.409+388_409+429del (n.409+388_409+429del)
c.412+388_412+429del (n.412+388_412+429del)
c.*1111_*1152del (n.*1111_*1152del)
c.5-30405_5-30364del (n.5-30405_5-30364del)
c.-43-19835_-43-19794del (n.-43-19835_-43-19794del)
c.-99+30915_-99+30956del (n.-99+30915_-99+30956del)
n.1311_1352del
n.1352_1393del
 ClinVar dbSNP
17g.43094315_43094356delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACACA2260784814BRCA1n.1239_1280delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu392=)
c.1049_1090delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu350=)
c.1172_1213delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu391=)
c.1097_1138delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu366=)
c.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.287_328delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu96=)
c.1052_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu351=)
c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu345=)
c.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.526_567delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.772_813delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
n.1311_1352delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
n.1352_1393delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
17g.43094316T>ACA500233557BRCA1n.1279A>T
c.1215A>T (p.Ser405=)
c.1089A>T (p.Ser363=)
c.1212A>T (p.Ser404=)
c.1137A>T (p.Ser379=)
c.784+428A>T (n.784+428A>T)
c.646+428A>T (n.646+428A>T)
c.327A>T (p.Ser109=)
c.1092A>T (p.Ser364=)
c.1074A>T (p.Ser358=)
c.664+428A>T (n.664+428A>T)
c.706+428A>T (n.706+428A>T)
c.*1223A>T (n.*1223A>T)
c.670+1530A>T (n.670+1530A>T)
c.566A>T
c.*998A>T (n.*998A>T)
c.787+428A>T (n.787+428A>T)
c.812A>T
c.409+428A>T (n.409+428A>T)
c.412+428A>T (n.412+428A>T)
c.*1151A>T (n.*1151A>T)
c.5-30365A>T (n.5-30365A>T)
c.-43-19795A>T (n.-43-19795A>T)
c.-99+30955A>T (n.-99+30955A>T)
n.1351A>T
n.1392A>T
 dbSNP
17g.43094316T>CCA000799BRCA1n.1279A>G
c.1215A>G (p.Ser405=)
c.1089A>G (p.Ser363=)
c.1212A>G (p.Ser404=)
c.1137A>G (p.Ser379=)
c.784+428A>G (n.784+428A>G)
c.646+428A>G (n.646+428A>G)
c.327A>G (p.Ser109=)
c.1092A>G (p.Ser364=)
c.1074A>G (p.Ser358=)
c.664+428A>G (n.664+428A>G)
c.706+428A>G (n.706+428A>G)
c.*1223A>G (n.*1223A>G)
c.670+1530A>G (n.670+1530A>G)
c.566A>G
c.*998A>G (n.*998A>G)
c.787+428A>G (n.787+428A>G)
c.812A>G
c.409+428A>G (n.409+428A>G)
c.412+428A>G (n.412+428A>G)
c.*1151A>G (n.*1151A>G)
c.5-30365A>G (n.5-30365A>G)
c.-43-19795A>G (n.-43-19795A>G)
c.-99+30955A>G (n.-99+30955A>G)
n.1351A>G
n.1392A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43094316T>GCA500233555BRCA1n.1279A>C
c.1215A>C (p.Ser405=)
c.1089A>C (p.Ser363=)
c.1212A>C (p.Ser404=)
c.1137A>C (p.Ser379=)
c.784+428A>C (n.784+428A>C)
c.646+428A>C (n.646+428A>C)
c.327A>C (p.Ser109=)
c.1092A>C (p.Ser364=)
c.1074A>C (p.Ser358=)
c.664+428A>C (n.664+428A>C)
c.706+428A>C (n.706+428A>C)
c.*1223A>C (n.*1223A>C)
c.670+1530A>C (n.670+1530A>C)
c.566A>C
c.*998A>C (n.*998A>C)
c.787+428A>C (n.787+428A>C)
c.812A>C
c.409+428A>C (n.409+428A>C)
c.412+428A>C (n.412+428A>C)
c.*1151A>C (n.*1151A>C)
c.5-30365A>C (n.5-30365A>C)
c.-43-19795A>C (n.-43-19795A>C)
c.-99+30955A>C (n.-99+30955A>C)
n.1351A>C
n.1392A>C
17g.43094316T=CA2260784816BRCA1n.1279A=
c.1215A= (p.Ser405=)
c.1089A= (p.Ser363=)
c.1212A= (p.Ser404=)
c.1137A= (p.Ser379=)
c.784+428A= (n.784+428A=)
c.646+428A= (n.646+428A=)
c.327A= (p.Ser109=)
c.1092A= (p.Ser364=)
c.1074A= (p.Ser358=)
c.664+428A= (n.664+428A=)
c.706+428A= (n.706+428A=)
c.*1223A= (n.*1223A=)
c.670+1530A= (n.670+1530A=)
c.566A=
c.*998A= (n.*998A=)
c.787+428A= (n.787+428A=)
c.812A=
c.409+428A= (n.409+428A=)
c.412+428A= (n.412+428A=)
c.*1151A= (n.*1151A=)
c.5-30365A= (n.5-30365A=)
c.-43-19795A= (n.-43-19795A=)
c.-99+30955A= (n.-99+30955A=)
n.1351A=
n.1392A=
17g.43094316_43094355delCA658824533BRCA1n.1240_1279del
c.1176_1215del (p.Leu393MetfsTer4)
c.1050_1089del (p.Leu351MetfsTer4)
c.1173_1212del (p.Leu392MetfsTer4)
c.1098_1137del (p.Leu367MetfsTer4)
c.784+389_784+428del (n.784+389_784+428del)
c.646+389_646+428del (n.646+389_646+428del)
c.288_327del (p.Leu97MetfsTer4)
c.1053_1092del (p.Leu352MetfsTer4)
c.1035_1074del (p.Leu346MetfsTer4)
c.664+389_664+428del (n.664+389_664+428del)
c.706+389_706+428del (n.706+389_706+428del)
c.*1184_*1223del (n.*1184_*1223del)
c.670+1491_670+1530del (n.670+1491_670+1530del)
c.527_566del
c.*959_*998del (n.*959_*998del)
c.787+389_787+428del (n.787+389_787+428del)
c.773_812del
c.409+389_409+428del (n.409+389_409+428del)
c.412+389_412+428del (n.412+389_412+428del)
c.*1112_*1151del (n.*1112_*1151del)
c.5-30404_5-30365del (n.5-30404_5-30365del)
c.-43-19834_-43-19795del (n.-43-19834_-43-19795del)
c.-99+30916_-99+30955del (n.-99+30916_-99+30955del)
n.1312_1351del
n.1353_1392del
 ClinVar dbSNP
17g.43094316_43094356delCA000778BRCA1n.1239_1279del
c.1175_1215del (p.Leu392GlnfsTer6)
c.1049_1089del (p.Leu350GlnfsTer6)
c.1172_1212del (p.Leu391GlnfsTer6)
c.1097_1137del (p.Leu366GlnfsTer6)
c.784+388_784+428del (n.784+388_784+428del)
c.646+388_646+428del (n.646+388_646+428del)
c.287_327del (p.Leu96GlnfsTer6)
c.1052_1092del (p.Leu351GlnfsTer6)
c.1034_1074del (p.Leu345GlnfsTer6)
c.664+388_664+428del (n.664+388_664+428del)
c.706+388_706+428del (n.706+388_706+428del)
c.*1183_*1223del (n.*1183_*1223del)
c.670+1490_670+1530del (n.670+1490_670+1530del)
c.526_566del
c.*958_*998del (n.*958_*998del)
c.787+388_787+428del (n.787+388_787+428del)
c.772_812del
c.409+388_409+428del (n.409+388_409+428del)
c.412+388_412+428del (n.412+388_412+428del)
c.*1111_*1151del (n.*1111_*1151del)
c.5-30405_5-30365del (n.5-30405_5-30365del)
c.-43-19835_-43-19795del (n.-43-19835_-43-19795del)
c.-99+30915_-99+30955del (n.-99+30915_-99+30955del)
n.1311_1351del
n.1352_1392del
 ClinVar dbSNP
17g.43094316_43094356delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACACA2260784817BRCA1n.1239_1279delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu392=)
c.1049_1089delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu350=)
c.1172_1212delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu391=)
c.1097_1137delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu366=)
c.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.287_327delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu96=)
c.1052_1092delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu351=)
c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu345=)
c.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.526_566delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
c.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.772_812delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
c.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
n.1311_1351delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
n.1352_1392delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
17g.43094317G>ACA10599622BRCA1n.1278C>T
c.1214C>T (p.Ser405Leu)
c.1088C>T (p.Ser363Leu)
c.1211C>T (p.Ser404Leu)
c.1136C>T (p.Ser379Leu)
c.784+427C>T (n.784+427C>T)
c.646+427C>T (n.646+427C>T)
c.326C>T (p.Ser109Leu)
c.1091C>T (p.Ser364Leu)
c.1073C>T (p.Ser358Leu)
c.664+427C>T (n.664+427C>T)
c.706+427C>T (n.706+427C>T)
c.*1222C>T (n.*1222C>T)
c.670+1529C>T (n.670+1529C>T)
c.565C>T
c.*997C>T (n.*997C>T)
c.787+427C>T (n.787+427C>T)
c.811C>T
c.409+427C>T (n.409+427C>T)
c.412+427C>T (n.412+427C>T)
c.*1150C>T (n.*1150C>T)
c.5-30366C>T (n.5-30366C>T)
c.-43-19796C>T (n.-43-19796C>T)
c.-99+30954C>T (n.-99+30954C>T)
n.1350C>T
n.1391C>T
 ClinVar dbSNP
17g.43094317G>CCA000798BRCA1n.1278C>G
c.1214C>G (p.Ser405Ter)
c.1088C>G (p.Ser363Ter)
c.1211C>G (p.Ser404Ter)
c.1136C>G (p.Ser379Ter)
c.784+427C>G (n.784+427C>G)
c.646+427C>G (n.646+427C>G)
c.326C>G (p.Ser109Ter)
c.1091C>G (p.Ser364Ter)
c.1073C>G (p.Ser358Ter)
c.664+427C>G (n.664+427C>G)
c.706+427C>G (n.706+427C>G)
c.*1222C>G (n.*1222C>G)
c.670+1529C>G (n.670+1529C>G)
c.565C>G
c.*997C>G (n.*997C>G)
c.787+427C>G (n.787+427C>G)
c.811C>G
c.409+427C>G (n.409+427C>G)
c.412+427C>G (n.412+427C>G)
c.*1150C>G (n.*1150C>G)
c.5-30366C>G (n.5-30366C>G)
c.-43-19796C>G (n.-43-19796C>G)
c.-99+30954C>G (n.-99+30954C>G)
n.1350C>G
n.1391C>G
 ClinVar dbSNP gnomAD v4
17g.43094317G=CA2260784818BRCA1n.1278C=
c.1214C= (p.Ser405=)
c.1088C= (p.Ser363=)
c.1211C= (p.Ser404=)
c.1136C= (p.Ser379=)
c.784+427C= (n.784+427C=)
c.646+427C= (n.646+427C=)
c.326C= (p.Ser109=)
c.1091C= (p.Ser364=)
c.1073C= (p.Ser358=)
c.664+427C= (n.664+427C=)
c.706+427C= (n.706+427C=)
c.*1222C= (n.*1222C=)
c.670+1529C= (n.670+1529C=)
c.565C=
c.*997C= (n.*997C=)
c.787+427C= (n.787+427C=)
c.811C=
c.409+427C= (n.409+427C=)
c.412+427C= (n.412+427C=)
c.*1150C= (n.*1150C=)
c.5-30366C= (n.5-30366C=)
c.-43-19796C= (n.-43-19796C=)
c.-99+30954C= (n.-99+30954C=)
n.1350C=
n.1391C=
17g.43094317G>TCA000796BRCA1n.1278C>A
c.1214C>A (p.Ser405Ter)
c.1088C>A (p.Ser363Ter)
c.1211C>A (p.Ser404Ter)
c.1136C>A (p.Ser379Ter)
c.784+427C>A (n.784+427C>A)
c.646+427C>A (n.646+427C>A)
c.326C>A (p.Ser109Ter)
c.1091C>A (p.Ser364Ter)
c.1073C>A (p.Ser358Ter)
c.664+427C>A (n.664+427C>A)
c.706+427C>A (n.706+427C>A)
c.*1222C>A (n.*1222C>A)
c.670+1529C>A (n.670+1529C>A)
c.565C>A
c.*997C>A (n.*997C>A)
c.787+427C>A (n.787+427C>A)
c.811C>A
c.409+427C>A (n.409+427C>A)
c.412+427C>A (n.412+427C>A)
c.*1150C>A (n.*1150C>A)
c.5-30366C>A (n.5-30366C>A)
c.-43-19796C>A (n.-43-19796C>A)
c.-99+30954C>A (n.-99+30954C>A)
n.1350C>A
n.1391C>A
 ClinVar dbSNP
17g.43094319_43094324delCA2638062640BRCA1n.1273_1278del
c.1209_1214del (p.Glu404_Ser405del)
c.1083_1088del (p.Glu362_Ser363del)
c.1206_1211del (p.Glu403_Ser404del)
c.1131_1136del (p.Glu378_Ser379del)
c.784+422_784+427del (n.784+422_784+427del)
c.646+422_646+427del (n.646+422_646+427del)
c.321_326del (p.Glu108_Ser109del)
c.1086_1091del (p.Glu363_Ser364del)
c.1068_1073del (p.Glu357_Ser358del)
c.664+422_664+427del (n.664+422_664+427del)
c.706+422_706+427del (n.706+422_706+427del)
c.*1217_*1222del (n.*1217_*1222del)
c.670+1524_670+1529del (n.670+1524_670+1529del)
c.560_565del
c.*992_*997del (n.*992_*997del)
c.787+422_787+427del (n.787+422_787+427del)
c.806_811del
c.409+422_409+427del (n.409+422_409+427del)
c.412+422_412+427del (n.412+422_412+427del)
c.*1145_*1150del (n.*1145_*1150del)
c.5-30371_5-30366del (n.5-30371_5-30366del)
c.-43-19801_-43-19796del (n.-43-19801_-43-19796del)
c.-99+30949_-99+30954del (n.-99+30949_-99+30954del)
n.1345_1350del
n.1386_1391del
 gnomAD v4
17g.43094318_43094357delCA000776BRCA1n.1239_1278del
c.1175_1214del (p.Leu392GlnfsTer5)
c.1049_1088del (p.Leu350GlnfsTer5)
c.1172_1211del (p.Leu391GlnfsTer5)
c.1097_1136del (p.Leu366GlnfsTer5)
c.784+388_784+427del (n.784+388_784+427del)
c.646+388_646+427del (n.646+388_646+427del)
c.287_326del (p.Leu96GlnfsTer5)
c.1052_1091del (p.Leu351GlnfsTer5)
c.1034_1073del (p.Leu345GlnfsTer5)
c.664+388_664+427del (n.664+388_664+427del)
c.706+388_706+427del (n.706+388_706+427del)
c.*1183_*1222del (n.*1183_*1222del)
c.670+1490_670+1529del (n.670+1490_670+1529del)
c.526_565del
c.*958_*997del (n.*958_*997del)
c.787+388_787+427del (n.787+388_787+427del)
c.772_811del
c.409+388_409+427del (n.409+388_409+427del)
c.412+388_412+427del (n.412+388_412+427del)
c.*1111_*1150del (n.*1111_*1150del)
c.5-30405_5-30366del (n.5-30405_5-30366del)
c.-43-19835_-43-19796del (n.-43-19835_-43-19796del)
c.-99+30915_-99+30954del (n.-99+30915_-99+30954del)
n.1311_1350del
n.1352_1391del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43094318A>CCA10599623BRCA1n.1277T>G
c.1213T>G (p.Ser405Ala)
c.1087T>G (p.Ser363Ala)
c.1210T>G (p.Ser404Ala)
c.1135T>G (p.Ser379Ala)
c.784+426T>G (n.784+426T>G)
c.646+426T>G (n.646+426T>G)
c.325T>G (p.Ser109Ala)
c.1090T>G (p.Ser364Ala)
c.1072T>G (p.Ser358Ala)
c.664+426T>G (n.664+426T>G)
c.706+426T>G (n.706+426T>G)
c.*1221T>G (n.*1221T>G)
c.670+1528T>G (n.670+1528T>G)
c.564T>G
c.*996T>G (n.*996T>G)
c.787+426T>G (n.787+426T>G)
c.810T>G
c.409+426T>G (n.409+426T>G)
c.412+426T>G (n.412+426T>G)
c.*1149T>G (n.*1149T>G)
c.5-30367T>G (n.5-30367T>G)
c.-43-19797T>G (n.-43-19797T>G)
c.-99+30953T>G (n.-99+30953T>G)
n.1349T>G
n.1390T>G
 dbSNP
17g.43094318A>GCA10599624BRCA1n.1277T>C
c.1213T>C (p.Ser405Pro)
c.1087T>C (p.Ser363Pro)
c.1210T>C (p.Ser404Pro)
c.1135T>C (p.Ser379Pro)
c.784+426T>C (n.784+426T>C)
c.646+426T>C (n.646+426T>C)
c.325T>C (p.Ser109Pro)
c.1090T>C (p.Ser364Pro)
c.1072T>C (p.Ser358Pro)
c.664+426T>C (n.664+426T>C)
c.706+426T>C (n.706+426T>C)
c.*1221T>C (n.*1221T>C)
c.670+1528T>C (n.670+1528T>C)
c.564T>C
c.*996T>C (n.*996T>C)
c.787+426T>C (n.787+426T>C)
c.810T>C
c.409+426T>C (n.409+426T>C)
c.412+426T>C (n.412+426T>C)
c.*1149T>C (n.*1149T>C)
c.5-30367T>C (n.5-30367T>C)
c.-43-19797T>C (n.-43-19797T>C)
c.-99+30953T>C (n.-99+30953T>C)
n.1349T>C
n.1390T>C
17g.43094318A>TCA10599625BRCA1n.1277T>A
c.1213T>A (p.Ser405Thr)
c.1087T>A (p.Ser363Thr)
c.1210T>A (p.Ser404Thr)
c.1135T>A (p.Ser379Thr)
c.784+426T>A (n.784+426T>A)
c.646+426T>A (n.646+426T>A)
c.325T>A (p.Ser109Thr)
c.1090T>A (p.Ser364Thr)
c.1072T>A (p.Ser358Thr)
c.664+426T>A (n.664+426T>A)
c.706+426T>A (n.706+426T>A)
c.*1221T>A (n.*1221T>A)
c.670+1528T>A (n.670+1528T>A)
c.564T>A
c.*996T>A (n.*996T>A)
c.787+426T>A (n.787+426T>A)
c.810T>A
c.409+426T>A (n.409+426T>A)
c.412+426T>A (n.412+426T>A)
c.*1149T>A (n.*1149T>A)
c.5-30367T>A (n.5-30367T>A)
c.-43-19797T>A (n.-43-19797T>A)
c.-99+30953T>A (n.-99+30953T>A)
n.1349T>A
n.1390T>A
 dbSNP
17g.43094319T>ACA10599626BRCA1n.1276A>T
c.1212A>T (p.Glu404Asp)
c.1086A>T (p.Glu362Asp)
c.1209A>T (p.Glu403Asp)
c.1134A>T (p.Glu378Asp)
c.784+425A>T (n.784+425A>T)
c.646+425A>T (n.646+425A>T)
c.324A>T (p.Glu108Asp)
c.1089A>T (p.Glu363Asp)
c.1071A>T (p.Glu357Asp)
c.664+425A>T (n.664+425A>T)
c.706+425A>T (n.706+425A>T)
c.*1220A>T (n.*1220A>T)
c.670+1527A>T (n.670+1527A>T)
c.563A>T
c.*995A>T (n.*995A>T)
c.787+425A>T (n.787+425A>T)
c.809A>T
c.409+425A>T (n.409+425A>T)
c.412+425A>T (n.412+425A>T)
c.*1148A>T (n.*1148A>T)
c.5-30368A>T (n.5-30368A>T)
c.-43-19798A>T (n.-43-19798A>T)
c.-99+30952A>T (n.-99+30952A>T)
n.1348A>T
n.1389A>T
 dbSNP
17g.43094319T>CCA16607635BRCA1n.1276A>G
c.1212A>G (p.Glu404=)
c.1086A>G (p.Glu362=)
c.1209A>G (p.Glu403=)
c.1134A>G (p.Glu378=)
c.784+425A>G (n.784+425A>G)
c.646+425A>G (n.646+425A>G)
c.324A>G (p.Glu108=)
c.1089A>G (p.Glu363=)
c.1071A>G (p.Glu357=)
c.664+425A>G (n.664+425A>G)
c.706+425A>G (n.706+425A>G)
c.*1220A>G (n.*1220A>G)
c.670+1527A>G (n.670+1527A>G)
c.563A>G
c.*995A>G (n.*995A>G)
c.787+425A>G (n.787+425A>G)
c.809A>G
c.409+425A>G (n.409+425A>G)
c.412+425A>G (n.412+425A>G)
c.*1148A>G (n.*1148A>G)
c.5-30368A>G (n.5-30368A>G)
c.-43-19798A>G (n.-43-19798A>G)
c.-99+30952A>G (n.-99+30952A>G)
n.1348A>G
n.1389A>G
 ClinVar dbSNP gnomAD v4
17g.43094319T>GCA10599627BRCA1n.1276A>C
c.1212A>C (p.Glu404Asp)
c.1086A>C (p.Glu362Asp)
c.1209A>C (p.Glu403Asp)
c.1134A>C (p.Glu378Asp)
c.784+425A>C (n.784+425A>C)
c.646+425A>C (n.646+425A>C)
c.324A>C (p.Glu108Asp)
c.1089A>C (p.Glu363Asp)
c.1071A>C (p.Glu357Asp)
c.664+425A>C (n.664+425A>C)
c.706+425A>C (n.706+425A>C)
c.*1220A>C (n.*1220A>C)
c.670+1527A>C (n.670+1527A>C)
c.563A>C
c.*995A>C (n.*995A>C)
c.787+425A>C (n.787+425A>C)
c.809A>C
c.409+425A>C (n.409+425A>C)
c.412+425A>C (n.412+425A>C)
c.*1148A>C (n.*1148A>C)
c.5-30368A>C (n.5-30368A>C)
c.-43-19798A>C (n.-43-19798A>C)
c.-99+30952A>C (n.-99+30952A>C)
n.1348A>C
n.1389A>C
 ClinVar dbSNP
17g.43094319T=CA2260784819BRCA1n.1276A=
c.1212A= (p.Glu404=)
c.1086A= (p.Glu362=)
c.1209A= (p.Glu403=)
c.1134A= (p.Glu378=)
c.784+425A= (n.784+425A=)
c.646+425A= (n.646+425A=)
c.324A= (p.Glu108=)
c.1089A= (p.Glu363=)
c.1071A= (p.Glu357=)
c.664+425A= (n.664+425A=)
c.706+425A= (n.706+425A=)
c.*1220A= (n.*1220A=)
c.670+1527A= (n.670+1527A=)
c.563A=
c.*995A= (n.*995A=)
c.787+425A= (n.787+425A=)
c.809A=
c.409+425A= (n.409+425A=)
c.412+425A= (n.412+425A=)
c.*1148A= (n.*1148A=)
c.5-30368A= (n.5-30368A=)
c.-43-19798A= (n.-43-19798A=)
c.-99+30952A= (n.-99+30952A=)
n.1348A=
n.1389A=
17g.43094319_43094320insAGCA658824534BRCA1n.1275_1276insCT
c.1211_1212insCT (p.Glu404AspfsTer7)
c.1085_1086insCT (p.Glu362AspfsTer7)
c.1208_1209insCT (p.Glu403AspfsTer7)
c.1133_1134insCT (p.Glu378AspfsTer7)
c.784+424_784+425insCT (n.784+424_784+425insCT)
c.646+424_646+425insCT (n.646+424_646+425insCT)
c.323_324insCT (p.Glu108AspfsTer7)
c.1088_1089insCT (p.Glu363AspfsTer7)
c.1070_1071insCT (p.Glu357AspfsTer7)
c.664+424_664+425insCT (n.664+424_664+425insCT)
c.706+424_706+425insCT (n.706+424_706+425insCT)
c.*1219_*1220insCT (n.*1219_*1220insCT)
c.670+1526_670+1527insCT (n.670+1526_670+1527insCT)
c.562_563insCT
c.*994_*995insCT (n.*994_*995insCT)
c.787+424_787+425insCT (n.787+424_787+425insCT)
c.808_809insCT
c.409+424_409+425insCT (n.409+424_409+425insCT)
c.412+424_412+425insCT (n.412+424_412+425insCT)
c.*1147_*1148insCT (n.*1147_*1148insCT)
c.5-30369_5-30368insCT (n.5-30369_5-30368insCT)
c.-43-19799_-43-19798insCT (n.-43-19799_-43-19798insCT)
c.-99+30951_-99+30952insCT (n.-99+30951_-99+30952insCT)
n.1347_1348insCT
n.1388_1389insCT
 ClinVar dbSNP
17g.43094320T>ACA10599628BRCA1n.1275A>T
c.1211A>T (p.Glu404Val)
c.1085A>T (p.Glu362Val)
c.1208A>T (p.Glu403Val)
c.1133A>T (p.Glu378Val)
c.784+424A>T (n.784+424A>T)
c.646+424A>T (n.646+424A>T)
c.323A>T (p.Glu108Val)
c.1088A>T (p.Glu363Val)
c.1070A>T (p.Glu357Val)
c.664+424A>T (n.664+424A>T)
c.706+424A>T (n.706+424A>T)
c.*1219A>T (n.*1219A>T)
c.670+1526A>T (n.670+1526A>T)
c.562A>T
c.*994A>T (n.*994A>T)
c.787+424A>T (n.787+424A>T)
c.808A>T
c.409+424A>T (n.409+424A>T)
c.412+424A>T (n.412+424A>T)
c.*1147A>T (n.*1147A>T)
c.5-30369A>T (n.5-30369A>T)
c.-43-19799A>T (n.-43-19799A>T)
c.-99+30951A>T (n.-99+30951A>T)
n.1347A>T
n.1388A>T
 dbSNP
17g.43094320T>CCA10599629BRCA1n.1275A>G
c.1211A>G (p.Glu404Gly)
c.1085A>G (p.Glu362Gly)
c.1208A>G (p.Glu403Gly)
c.1133A>G (p.Glu378Gly)
c.784+424A>G (n.784+424A>G)
c.646+424A>G (n.646+424A>G)
c.323A>G (p.Glu108Gly)
c.1088A>G (p.Glu363Gly)
c.1070A>G (p.Glu357Gly)
c.664+424A>G (n.664+424A>G)
c.706+424A>G (n.706+424A>G)
c.*1219A>G (n.*1219A>G)
c.670+1526A>G (n.670+1526A>G)
c.562A>G
c.*994A>G (n.*994A>G)
c.787+424A>G (n.787+424A>G)
c.808A>G
c.409+424A>G (n.409+424A>G)
c.412+424A>G (n.412+424A>G)
c.*1147A>G (n.*1147A>G)
c.5-30369A>G (n.5-30369A>G)
c.-43-19799A>G (n.-43-19799A>G)
c.-99+30951A>G (n.-99+30951A>G)
n.1347A>G
n.1388A>G
 dbSNP
17g.43094320T>GCA10599630BRCA1n.1275A>C
c.1211A>C (p.Glu404Ala)
c.1085A>C (p.Glu362Ala)
c.1208A>C (p.Glu403Ala)
c.1133A>C (p.Glu378Ala)
c.784+424A>C (n.784+424A>C)
c.646+424A>C (n.646+424A>C)
c.323A>C (p.Glu108Ala)
c.1088A>C (p.Glu363Ala)
c.1070A>C (p.Glu357Ala)
c.664+424A>C (n.664+424A>C)
c.706+424A>C (n.706+424A>C)
c.*1219A>C (n.*1219A>C)
c.670+1526A>C (n.670+1526A>C)
c.562A>C
c.*994A>C (n.*994A>C)
c.787+424A>C (n.787+424A>C)
c.808A>C
c.409+424A>C (n.409+424A>C)
c.412+424A>C (n.412+424A>C)
c.*1147A>C (n.*1147A>C)
c.5-30369A>C (n.5-30369A>C)
c.-43-19799A>C (n.-43-19799A>C)
c.-99+30951A>C (n.-99+30951A>C)
n.1347A>C
n.1388A>C
 dbSNP
17g.43094320T=CA2260784821BRCA1n.1275A=
c.1211A= (p.Glu404=)
c.1085A= (p.Glu362=)
c.1208A= (p.Glu403=)
c.1133A= (p.Glu378=)
c.784+424A= (n.784+424A=)
c.646+424A= (n.646+424A=)
c.323A= (p.Glu108=)
c.1088A= (p.Glu363=)
c.1070A= (p.Glu357=)
c.664+424A= (n.664+424A=)
c.706+424A= (n.706+424A=)
c.*1219A= (n.*1219A=)
c.670+1526A= (n.670+1526A=)
c.562A=
c.*994A= (n.*994A=)
c.787+424A= (n.787+424A=)
c.808A=
c.409+424A= (n.409+424A=)
c.412+424A= (n.412+424A=)
c.*1147A= (n.*1147A=)
c.5-30369A= (n.5-30369A=)
c.-43-19799A= (n.-43-19799A=)
c.-99+30951A= (n.-99+30951A=)
n.1347A=
n.1388A=
17g.43094320_43094322delinsTCACA2260784820BRCA1n.1273_1275delinsTGA
c.1209_1211delinsTGA (p.Ser403=)
c.1083_1085delinsTGA (p.Ser361=)
c.1206_1208delinsTGA (p.Ser402=)
c.1131_1133delinsTGA (p.Ser377=)
c.784+422_784+424delinsTGA (n.784+422_784+424delinsTGA)
c.646+422_646+424delinsTGA (n.646+422_646+424delinsTGA)
c.321_323delinsTGA (p.Ser107=)
c.1086_1088delinsTGA (p.Ser362=)
c.1068_1070delinsTGA (p.Ser356=)
c.664+422_664+424delinsTGA (n.664+422_664+424delinsTGA)
c.706+422_706+424delinsTGA (n.706+422_706+424delinsTGA)
c.*1217_*1219delinsTGA (n.*1217_*1219delinsTGA)
c.670+1524_670+1526delinsTGA (n.670+1524_670+1526delinsTGA)
c.560_562delinsTGA
c.*992_*994delinsTGA (n.*992_*994delinsTGA)
c.787+422_787+424delinsTGA (n.787+422_787+424delinsTGA)
c.806_808delinsTGA
c.409+422_409+424delinsTGA (n.409+422_409+424delinsTGA)
c.412+422_412+424delinsTGA (n.412+422_412+424delinsTGA)
c.*1145_*1147delinsTGA (n.*1145_*1147delinsTGA)
c.5-30371_5-30369delinsTGA (n.5-30371_5-30369delinsTGA)
c.-43-19801_-43-19799delinsTGA (n.-43-19801_-43-19799delinsTGA)
c.-99+30949_-99+30951delinsTGA (n.-99+30949_-99+30951delinsTGA)
n.1345_1347delinsTGA
n.1386_1388delinsTGA
17g.43094320_43094321insAGCA10589959BRCA1n.1274_1275insCT
c.1210_1211insCT (p.Glu404AlafsTer7)
c.1084_1085insCT (p.Glu362AlafsTer7)
c.1207_1208insCT (p.Glu403AlafsTer7)
c.1132_1133insCT (p.Glu378AlafsTer7)
c.784+423_784+424insCT (n.784+423_784+424insCT)
c.646+423_646+424insCT (n.646+423_646+424insCT)
c.322_323insCT (p.Glu108AlafsTer7)
c.1087_1088insCT (p.Glu363AlafsTer7)
c.1069_1070insCT (p.Glu357AlafsTer7)
c.664+423_664+424insCT (n.664+423_664+424insCT)
c.706+423_706+424insCT (n.706+423_706+424insCT)
c.*1218_*1219insCT (n.*1218_*1219insCT)
c.670+1525_670+1526insCT (n.670+1525_670+1526insCT)
c.561_562insCT
c.*993_*994insCT (n.*993_*994insCT)
c.787+423_787+424insCT (n.787+423_787+424insCT)
c.807_808insCT
c.409+423_409+424insCT (n.409+423_409+424insCT)
c.412+423_412+424insCT (n.412+423_412+424insCT)
c.*1146_*1147insCT (n.*1146_*1147insCT)
c.5-30370_5-30369insCT (n.5-30370_5-30369insCT)
c.-43-19800_-43-19799insCT (n.-43-19800_-43-19799insCT)
c.-99+30950_-99+30951insCT (n.-99+30950_-99+30951insCT)
n.1346_1347insCT
n.1387_1388insCT
 ClinVar dbSNP
17g.43094321C>ACA10599631BRCA1n.1274G>T
c.1210G>T (p.Glu404Ter)
c.1084G>T (p.Glu362Ter)
c.1207G>T (p.Glu403Ter)
c.1132G>T (p.Glu378Ter)
c.784+423G>T (n.784+423G>T)
c.646+423G>T (n.646+423G>T)
c.322G>T (p.Glu108Ter)
c.1087G>T (p.Glu363Ter)
c.1069G>T (p.Glu357Ter)
c.664+423G>T (n.664+423G>T)
c.706+423G>T (n.706+423G>T)
c.*1218G>T (n.*1218G>T)
c.670+1525G>T (n.670+1525G>T)
c.561G>T
c.*993G>T (n.*993G>T)
c.787+423G>T (n.787+423G>T)
c.807G>T
c.409+423G>T (n.409+423G>T)
c.412+423G>T (n.412+423G>T)
c.*1146G>T (n.*1146G>T)
c.5-30370G>T (n.5-30370G>T)
c.-43-19800G>T (n.-43-19800G>T)
c.-99+30950G>T (n.-99+30950G>T)
n.1346G>T
n.1387G>T
 dbSNP

Number of alleles fetched