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.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.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.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.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.43094327_43094366delCA1139532220BRCA1n.1232_1271del
c.1168_1207del (p.Asp390LeufsTer7)
c.1042_1081del (p.Asp348LeufsTer7)
c.1165_1204del (p.Asp389LeufsTer7)
c.1090_1129del (p.Asp364LeufsTer7)
c.784+381_784+420del (n.784+381_784+420del)
c.646+381_646+420del (n.646+381_646+420del)
c.280_319del (p.Asp94LeufsTer7)
c.1045_1084del (p.Asp349LeufsTer7)
c.1027_1066del (p.Asp343LeufsTer7)
c.664+381_664+420del (n.664+381_664+420del)
c.706+381_706+420del (n.706+381_706+420del)
c.*1176_*1215del (n.*1176_*1215del)
c.670+1483_670+1522del (n.670+1483_670+1522del)
c.519_558del
c.*951_*990del (n.*951_*990del)
c.787+381_787+420del (n.787+381_787+420del)
c.765_804del
c.409+381_409+420del (n.409+381_409+420del)
c.412+381_412+420del (n.412+381_412+420del)
c.*1104_*1143del (n.*1104_*1143del)
c.5-30412_5-30373del (n.5-30412_5-30373del)
c.-43-19842_-43-19803del (n.-43-19842_-43-19803del)
c.-99+30908_-99+30947del (n.-99+30908_-99+30947del)
n.1304_1343del
n.1345_1384del
17g.43094339A=CA2260784841BRCA1n.1256T=
c.1192T= (p.Ser398=)
c.1066T= (p.Ser356=)
c.1189T= (p.Ser397=)
c.1114T= (p.Ser372=)
c.784+405T= (n.784+405T=)
c.646+405T= (n.646+405T=)
c.304T= (p.Ser102=)
c.1069T= (p.Ser357=)
c.1051T= (p.Ser351=)
c.664+405T= (n.664+405T=)
c.706+405T= (n.706+405T=)
c.*1200T= (n.*1200T=)
c.670+1507T= (n.670+1507T=)
c.543T=
c.*975T= (n.*975T=)
c.787+405T= (n.787+405T=)
c.789T=
c.409+405T= (n.409+405T=)
c.412+405T= (n.412+405T=)
c.*1128T= (n.*1128T=)
c.5-30388T= (n.5-30388T=)
c.-43-19818T= (n.-43-19818T=)
c.-99+30932T= (n.-99+30932T=)
n.1328T=
n.1369T=
17g.43094339A>CCA10599664BRCA1n.1256T>G
c.1192T>G (p.Ser398Ala)
c.1066T>G (p.Ser356Ala)
c.1189T>G (p.Ser397Ala)
c.1114T>G (p.Ser372Ala)
c.784+405T>G (n.784+405T>G)
c.646+405T>G (n.646+405T>G)
c.304T>G (p.Ser102Ala)
c.1069T>G (p.Ser357Ala)
c.1051T>G (p.Ser351Ala)
c.664+405T>G (n.664+405T>G)
c.706+405T>G (n.706+405T>G)
c.*1200T>G (n.*1200T>G)
c.670+1507T>G (n.670+1507T>G)
c.543T>G
c.*975T>G (n.*975T>G)
c.787+405T>G (n.787+405T>G)
c.789T>G
c.409+405T>G (n.409+405T>G)
c.412+405T>G (n.412+405T>G)
c.*1128T>G (n.*1128T>G)
c.5-30388T>G (n.5-30388T>G)
c.-43-19818T>G (n.-43-19818T>G)
c.-99+30932T>G (n.-99+30932T>G)
n.1328T>G
n.1369T>G
 ClinVar dbSNP
17g.43094339A>GCA10599665BRCA1n.1256T>C
c.1192T>C (p.Ser398Pro)
c.1066T>C (p.Ser356Pro)
c.1189T>C (p.Ser397Pro)
c.1114T>C (p.Ser372Pro)
c.784+405T>C (n.784+405T>C)
c.646+405T>C (n.646+405T>C)
c.304T>C (p.Ser102Pro)
c.1069T>C (p.Ser357Pro)
c.1051T>C (p.Ser351Pro)
c.664+405T>C (n.664+405T>C)
c.706+405T>C (n.706+405T>C)
c.*1200T>C (n.*1200T>C)
c.670+1507T>C (n.670+1507T>C)
c.543T>C
c.*975T>C (n.*975T>C)
c.787+405T>C (n.787+405T>C)
c.789T>C
c.409+405T>C (n.409+405T>C)
c.412+405T>C (n.412+405T>C)
c.*1128T>C (n.*1128T>C)
c.5-30388T>C (n.5-30388T>C)
c.-43-19818T>C (n.-43-19818T>C)
c.-99+30932T>C (n.-99+30932T>C)
n.1328T>C
n.1369T>C
 dbSNP
17g.43094339A>TCA10599666BRCA1n.1256T>A
c.1192T>A (p.Ser398Thr)
c.1066T>A (p.Ser356Thr)
c.1189T>A (p.Ser397Thr)
c.1114T>A (p.Ser372Thr)
c.784+405T>A (n.784+405T>A)
c.646+405T>A (n.646+405T>A)
c.304T>A (p.Ser102Thr)
c.1069T>A (p.Ser357Thr)
c.1051T>A (p.Ser351Thr)
c.664+405T>A (n.664+405T>A)
c.706+405T>A (n.706+405T>A)
c.*1200T>A (n.*1200T>A)
c.670+1507T>A (n.670+1507T>A)
c.543T>A
c.*975T>A (n.*975T>A)
c.787+405T>A (n.787+405T>A)
c.789T>A
c.409+405T>A (n.409+405T>A)
c.412+405T>A (n.412+405T>A)
c.*1128T>A (n.*1128T>A)
c.5-30388T>A (n.5-30388T>A)
c.-43-19818T>A (n.-43-19818T>A)
c.-99+30932T>A (n.-99+30932T>A)
n.1328T>A
n.1369T>A
 dbSNP
17g.43094340G>ACA500233598BRCA1n.1255C>T
c.1191C>T (p.Asp397=)
c.1065C>T (p.Asp355=)
c.1188C>T (p.Asp396=)
c.1113C>T (p.Asp371=)
c.784+404C>T (n.784+404C>T)
c.646+404C>T (n.646+404C>T)
c.303C>T (p.Asp101=)
c.1068C>T (p.Asp356=)
c.1050C>T (p.Asp350=)
c.664+404C>T (n.664+404C>T)
c.706+404C>T (n.706+404C>T)
c.*1199C>T (n.*1199C>T)
c.670+1506C>T (n.670+1506C>T)
c.542C>T
c.*974C>T (n.*974C>T)
c.787+404C>T (n.787+404C>T)
c.788C>T
c.409+404C>T (n.409+404C>T)
c.412+404C>T (n.412+404C>T)
c.*1127C>T (n.*1127C>T)
c.5-30389C>T (n.5-30389C>T)
c.-43-19819C>T (n.-43-19819C>T)
c.-99+30931C>T (n.-99+30931C>T)
n.1327C>T
n.1368C>T
 ClinVar dbSNP gnomAD v4
17g.43094340G>CCA10599667BRCA1n.1255C>G
c.1191C>G (p.Asp397Glu)
c.1065C>G (p.Asp355Glu)
c.1188C>G (p.Asp396Glu)
c.1113C>G (p.Asp371Glu)
c.784+404C>G (n.784+404C>G)
c.646+404C>G (n.646+404C>G)
c.303C>G (p.Asp101Glu)
c.1068C>G (p.Asp356Glu)
c.1050C>G (p.Asp350Glu)
c.664+404C>G (n.664+404C>G)
c.706+404C>G (n.706+404C>G)
c.*1199C>G (n.*1199C>G)
c.670+1506C>G (n.670+1506C>G)
c.542C>G
c.*974C>G (n.*974C>G)
c.787+404C>G (n.787+404C>G)
c.788C>G
c.409+404C>G (n.409+404C>G)
c.412+404C>G (n.412+404C>G)
c.*1127C>G (n.*1127C>G)
c.5-30389C>G (n.5-30389C>G)
c.-43-19819C>G (n.-43-19819C>G)
c.-99+30931C>G (n.-99+30931C>G)
n.1327C>G
n.1368C>G
 dbSNP
17g.43094340G>TCA10599668BRCA1n.1255C>A
c.1191C>A (p.Asp397Glu)
c.1065C>A (p.Asp355Glu)
c.1188C>A (p.Asp396Glu)
c.1113C>A (p.Asp371Glu)
c.784+404C>A (n.784+404C>A)
c.646+404C>A (n.646+404C>A)
c.303C>A (p.Asp101Glu)
c.1068C>A (p.Asp356Glu)
c.1050C>A (p.Asp350Glu)
c.664+404C>A (n.664+404C>A)
c.706+404C>A (n.706+404C>A)
c.*1199C>A (n.*1199C>A)
c.670+1506C>A (n.670+1506C>A)
c.542C>A
c.*974C>A (n.*974C>A)
c.787+404C>A (n.787+404C>A)
c.788C>A
c.409+404C>A (n.409+404C>A)
c.412+404C>A (n.412+404C>A)
c.*1127C>A (n.*1127C>A)
c.5-30389C>A (n.5-30389C>A)
c.-43-19819C>A (n.-43-19819C>A)
c.-99+30931C>A (n.-99+30931C>A)
n.1327C>A
n.1368C>A
 dbSNP
17g.43094340_43094341delinsGTCA2260784842BRCA1n.1254_1255delinsAC
c.1190_1191delinsAC (p.Asp397=)
c.1064_1065delinsAC (p.Asp355=)
c.1187_1188delinsAC (p.Asp396=)
c.1112_1113delinsAC (p.Asp371=)
c.784+403_784+404delinsAC (n.784+403_784+404delinsAC)
c.646+403_646+404delinsAC (n.646+403_646+404delinsAC)
c.302_303delinsAC (p.Asp101=)
c.1067_1068delinsAC (p.Asp356=)
c.1049_1050delinsAC (p.Asp350=)
c.664+403_664+404delinsAC (n.664+403_664+404delinsAC)
c.706+403_706+404delinsAC (n.706+403_706+404delinsAC)
c.*1198_*1199delinsAC (n.*1198_*1199delinsAC)
c.670+1505_670+1506delinsAC (n.670+1505_670+1506delinsAC)
c.541_542delinsAC
c.*973_*974delinsAC (n.*973_*974delinsAC)
c.787+403_787+404delinsAC (n.787+403_787+404delinsAC)
c.787_788delinsAC
c.409+403_409+404delinsAC (n.409+403_409+404delinsAC)
c.412+403_412+404delinsAC (n.412+403_412+404delinsAC)
c.*1126_*1127delinsAC (n.*1126_*1127delinsAC)
c.5-30390_5-30389delinsAC (n.5-30390_5-30389delinsAC)
c.-43-19820_-43-19819delinsAC (n.-43-19820_-43-19819delinsAC)
c.-99+30930_-99+30931delinsAC (n.-99+30930_-99+30931delinsAC)
n.1326_1327delinsAC
n.1367_1368delinsAC
17g.43094341delCA057081BRCA1n.1254del
c.1190del (p.Asp397AlafsTer13)
c.1064del (p.Asp355AlafsTer13)
c.1187del (p.Asp396AlafsTer13)
c.1112del (p.Asp371AlafsTer13)
c.784+403del (n.784+403del)
c.646+403del (n.646+403del)
c.302del (p.Asp101AlafsTer13)
c.1067del (p.Asp356AlafsTer13)
c.1049del (p.Asp350AlafsTer13)
c.664+403del (n.664+403del)
c.706+403del (n.706+403del)
c.*1198del (n.*1198del)
c.670+1505del (n.670+1505del)
c.541del
c.*973del (n.*973del)
c.787+403del (n.787+403del)
c.787del
c.409+403del (n.409+403del)
c.412+403del (n.412+403del)
c.*1126del (n.*1126del)
c.5-30390del (n.5-30390del)
c.-43-19820del (n.-43-19820del)
c.-99+30930del (n.-99+30930del)
n.1326del
n.1367del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43094341T>ACA057074BRCA1n.1254A>T
c.1190A>T (p.Asp397Val)
c.1064A>T (p.Asp355Val)
c.1187A>T (p.Asp396Val)
c.1112A>T (p.Asp371Val)
c.784+403A>T (n.784+403A>T)
c.646+403A>T (n.646+403A>T)
c.302A>T (p.Asp101Val)
c.1067A>T (p.Asp356Val)
c.1049A>T (p.Asp350Val)
c.664+403A>T (n.664+403A>T)
c.706+403A>T (n.706+403A>T)
c.*1198A>T (n.*1198A>T)
c.670+1505A>T (n.670+1505A>T)
c.541A>T
c.*973A>T (n.*973A>T)
c.787+403A>T (n.787+403A>T)
c.787A>T
c.409+403A>T (n.409+403A>T)
c.412+403A>T (n.412+403A>T)
c.*1126A>T (n.*1126A>T)
c.5-30390A>T (n.5-30390A>T)
c.-43-19820A>T (n.-43-19820A>T)
c.-99+30930A>T (n.-99+30930A>T)
n.1326A>T
n.1367A>T
 ClinVar dbSNP ExAC gnomAD v2
17g.43094341T>CCA10599669BRCA1n.1254A>G
c.1190A>G (p.Asp397Gly)
c.1064A>G (p.Asp355Gly)
c.1187A>G (p.Asp396Gly)
c.1112A>G (p.Asp371Gly)
c.784+403A>G (n.784+403A>G)
c.646+403A>G (n.646+403A>G)
c.302A>G (p.Asp101Gly)
c.1067A>G (p.Asp356Gly)
c.1049A>G (p.Asp350Gly)
c.664+403A>G (n.664+403A>G)
c.706+403A>G (n.706+403A>G)
c.*1198A>G (n.*1198A>G)
c.670+1505A>G (n.670+1505A>G)
c.541A>G
c.*973A>G (n.*973A>G)
c.787+403A>G (n.787+403A>G)
c.787A>G
c.409+403A>G (n.409+403A>G)
c.412+403A>G (n.412+403A>G)
c.*1126A>G (n.*1126A>G)
c.5-30390A>G (n.5-30390A>G)
c.-43-19820A>G (n.-43-19820A>G)
c.-99+30930A>G (n.-99+30930A>G)
n.1326A>G
n.1367A>G
 dbSNP
17g.43094341T>GCA10599670BRCA1n.1254A>C
c.1190A>C (p.Asp397Ala)
c.1064A>C (p.Asp355Ala)
c.1187A>C (p.Asp396Ala)
c.1112A>C (p.Asp371Ala)
c.784+403A>C (n.784+403A>C)
c.646+403A>C (n.646+403A>C)
c.302A>C (p.Asp101Ala)
c.1067A>C (p.Asp356Ala)
c.1049A>C (p.Asp350Ala)
c.664+403A>C (n.664+403A>C)
c.706+403A>C (n.706+403A>C)
c.*1198A>C (n.*1198A>C)
c.670+1505A>C (n.670+1505A>C)
c.541A>C
c.*973A>C (n.*973A>C)
c.787+403A>C (n.787+403A>C)
c.787A>C
c.409+403A>C (n.409+403A>C)
c.412+403A>C (n.412+403A>C)
c.*1126A>C (n.*1126A>C)
c.5-30390A>C (n.5-30390A>C)
c.-43-19820A>C (n.-43-19820A>C)
c.-99+30930A>C (n.-99+30930A>C)
n.1326A>C
n.1367A>C
 dbSNP
17g.43094341T=CA2260784843BRCA1n.1254A=
c.1190A= (p.Asp397=)
c.1064A= (p.Asp355=)
c.1187A= (p.Asp396=)
c.1112A= (p.Asp371=)
c.784+403A= (n.784+403A=)
c.646+403A= (n.646+403A=)
c.302A= (p.Asp101=)
c.1067A= (p.Asp356=)
c.1049A= (p.Asp350=)
c.664+403A= (n.664+403A=)
c.706+403A= (n.706+403A=)
c.*1198A= (n.*1198A=)
c.670+1505A= (n.670+1505A=)
c.541A=
c.*973A= (n.*973A=)
c.787+403A= (n.787+403A=)
c.787A=
c.409+403A= (n.409+403A=)
c.412+403A= (n.412+403A=)
c.*1126A= (n.*1126A=)
c.5-30390A= (n.5-30390A=)
c.-43-19820A= (n.-43-19820A=)
c.-99+30930A= (n.-99+30930A=)
n.1326A=
n.1367A=
17g.43094342C>ACA10599671BRCA1n.1253G>T
c.1189G>T (p.Asp397Tyr)
c.1063G>T (p.Asp355Tyr)
c.1186G>T (p.Asp396Tyr)
c.1111G>T (p.Asp371Tyr)
c.784+402G>T (n.784+402G>T)
c.646+402G>T (n.646+402G>T)
c.301G>T (p.Asp101Tyr)
c.1066G>T (p.Asp356Tyr)
c.1048G>T (p.Asp350Tyr)
c.664+402G>T (n.664+402G>T)
c.706+402G>T (n.706+402G>T)
c.*1197G>T (n.*1197G>T)
c.670+1504G>T (n.670+1504G>T)
c.540G>T
c.*972G>T (n.*972G>T)
c.787+402G>T (n.787+402G>T)
c.786G>T
c.409+402G>T (n.409+402G>T)
c.412+402G>T (n.412+402G>T)
c.*1125G>T (n.*1125G>T)
c.5-30391G>T (n.5-30391G>T)
c.-43-19821G>T (n.-43-19821G>T)
c.-99+30929G>T (n.-99+30929G>T)
n.1325G>T
n.1366G>T
 dbSNP
17g.43094342C>GCA10599672BRCA1n.1253G>C
c.1189G>C (p.Asp397His)
c.1063G>C (p.Asp355His)
c.1186G>C (p.Asp396His)
c.1111G>C (p.Asp371His)
c.784+402G>C (n.784+402G>C)
c.646+402G>C (n.646+402G>C)
c.301G>C (p.Asp101His)
c.1066G>C (p.Asp356His)
c.1048G>C (p.Asp350His)
c.664+402G>C (n.664+402G>C)
c.706+402G>C (n.706+402G>C)
c.*1197G>C (n.*1197G>C)
c.670+1504G>C (n.670+1504G>C)
c.540G>C
c.*972G>C (n.*972G>C)
c.787+402G>C (n.787+402G>C)
c.786G>C
c.409+402G>C (n.409+402G>C)
c.412+402G>C (n.412+402G>C)
c.*1125G>C (n.*1125G>C)
c.5-30391G>C (n.5-30391G>C)
c.-43-19821G>C (n.-43-19821G>C)
c.-99+30929G>C (n.-99+30929G>C)
n.1325G>C
n.1366G>C
 dbSNP
17g.43094342C>TCA10599673BRCA1n.1253G>A
c.1189G>A (p.Asp397Asn)
c.1063G>A (p.Asp355Asn)
c.1186G>A (p.Asp396Asn)
c.1111G>A (p.Asp371Asn)
c.784+402G>A (n.784+402G>A)
c.646+402G>A (n.646+402G>A)
c.301G>A (p.Asp101Asn)
c.1066G>A (p.Asp356Asn)
c.1048G>A (p.Asp350Asn)
c.664+402G>A (n.664+402G>A)
c.706+402G>A (n.706+402G>A)
c.*1197G>A (n.*1197G>A)
c.670+1504G>A (n.670+1504G>A)
c.540G>A
c.*972G>A (n.*972G>A)
c.787+402G>A (n.787+402G>A)
c.786G>A
c.409+402G>A (n.409+402G>A)
c.412+402G>A (n.412+402G>A)
c.*1125G>A (n.*1125G>A)
c.5-30391G>A (n.5-30391G>A)
c.-43-19821G>A (n.-43-19821G>A)
c.-99+30929G>A (n.-99+30929G>A)
n.1325G>A
n.1366G>A
 ClinVar dbSNP
17g.43094342_43094343delinsCACA2260784844BRCA1n.1252_1253delinsTG
c.1188_1189delinsTG (p.Asp396=)
c.1062_1063delinsTG (p.Asp354=)
c.1185_1186delinsTG (p.Asp395=)
c.1110_1111delinsTG (p.Asp370=)
c.784+401_784+402delinsTG (n.784+401_784+402delinsTG)
c.646+401_646+402delinsTG (n.646+401_646+402delinsTG)
c.300_301delinsTG (p.Asp100=)
c.1065_1066delinsTG (p.Asp355=)
c.1047_1048delinsTG (p.Asp349=)
c.664+401_664+402delinsTG (n.664+401_664+402delinsTG)
c.706+401_706+402delinsTG (n.706+401_706+402delinsTG)
c.*1196_*1197delinsTG (n.*1196_*1197delinsTG)
c.670+1503_670+1504delinsTG (n.670+1503_670+1504delinsTG)
c.539_540delinsTG
c.*971_*972delinsTG (n.*971_*972delinsTG)
c.787+401_787+402delinsTG (n.787+401_787+402delinsTG)
c.785_786delinsTG
c.409+401_409+402delinsTG (n.409+401_409+402delinsTG)
c.412+401_412+402delinsTG (n.412+401_412+402delinsTG)
c.*1124_*1125delinsTG (n.*1124_*1125delinsTG)
c.5-30392_5-30391delinsTG (n.5-30392_5-30391delinsTG)
c.-43-19822_-43-19821delinsTG (n.-43-19822_-43-19821delinsTG)
c.-99+30928_-99+30929delinsTG (n.-99+30928_-99+30929delinsTG)
n.1324_1325delinsTG
n.1365_1366delinsTG
17g.43094343delCA000784BRCA1n.1252del
c.1188del (p.Asp396GlufsTer14)
c.1062del (p.Asp354GlufsTer14)
c.1185del (p.Asp395GlufsTer14)
c.1110del (p.Asp370GlufsTer14)
c.784+401del (n.784+401del)
c.646+401del (n.646+401del)
c.300del (p.Asp100GlufsTer14)
c.1065del (p.Asp355GlufsTer14)
c.1047del (p.Asp349GlufsTer14)
c.664+401del (n.664+401del)
c.706+401del (n.706+401del)
c.*1196del (n.*1196del)
c.670+1503del (n.670+1503del)
c.539del
c.*971del (n.*971del)
c.787+401del (n.787+401del)
c.785del
c.409+401del (n.409+401del)
c.412+401del (n.412+401del)
c.*1124del (n.*1124del)
c.5-30392del (n.5-30392del)
c.-43-19822del (n.-43-19822del)
c.-99+30928del (n.-99+30928del)
n.1324del
n.1365del
 ClinVar dbSNP
17g.43094343A>CCA10599674BRCA1n.1252T>G
c.1188T>G (p.Asp396Glu)
c.1062T>G (p.Asp354Glu)
c.1185T>G (p.Asp395Glu)
c.1110T>G (p.Asp370Glu)
c.784+401T>G (n.784+401T>G)
c.646+401T>G (n.646+401T>G)
c.300T>G (p.Asp100Glu)
c.1065T>G (p.Asp355Glu)
c.1047T>G (p.Asp349Glu)
c.664+401T>G (n.664+401T>G)
c.706+401T>G (n.706+401T>G)
c.*1196T>G (n.*1196T>G)
c.670+1503T>G (n.670+1503T>G)
c.539T>G
c.*971T>G (n.*971T>G)
c.787+401T>G (n.787+401T>G)
c.785T>G
c.409+401T>G (n.409+401T>G)
c.412+401T>G (n.412+401T>G)
c.*1124T>G (n.*1124T>G)
c.5-30392T>G (n.5-30392T>G)
c.-43-19822T>G (n.-43-19822T>G)
c.-99+30928T>G (n.-99+30928T>G)
n.1324T>G
n.1365T>G
 dbSNP
17g.43094343A>GCA500233609BRCA1n.1252T>C
c.1188T>C (p.Asp396=)
c.1062T>C (p.Asp354=)
c.1185T>C (p.Asp395=)
c.1110T>C (p.Asp370=)
c.784+401T>C (n.784+401T>C)
c.646+401T>C (n.646+401T>C)
c.300T>C (p.Asp100=)
c.1065T>C (p.Asp355=)
c.1047T>C (p.Asp349=)
c.664+401T>C (n.664+401T>C)
c.706+401T>C (n.706+401T>C)
c.*1196T>C (n.*1196T>C)
c.670+1503T>C (n.670+1503T>C)
c.539T>C
c.*971T>C (n.*971T>C)
c.787+401T>C (n.787+401T>C)
c.785T>C
c.409+401T>C (n.409+401T>C)
c.412+401T>C (n.412+401T>C)
c.*1124T>C (n.*1124T>C)
c.5-30392T>C (n.5-30392T>C)
c.-43-19822T>C (n.-43-19822T>C)
c.-99+30928T>C (n.-99+30928T>C)
n.1324T>C
n.1365T>C
 dbSNP
17g.43094343A>TCA10599675BRCA1n.1252T>A
c.1188T>A (p.Asp396Glu)
c.1062T>A (p.Asp354Glu)
c.1185T>A (p.Asp395Glu)
c.1110T>A (p.Asp370Glu)
c.784+401T>A (n.784+401T>A)
c.646+401T>A (n.646+401T>A)
c.300T>A (p.Asp100Glu)
c.1065T>A (p.Asp355Glu)
c.1047T>A (p.Asp349Glu)
c.664+401T>A (n.664+401T>A)
c.706+401T>A (n.706+401T>A)
c.*1196T>A (n.*1196T>A)
c.670+1503T>A (n.670+1503T>A)
c.539T>A
c.*971T>A (n.*971T>A)
c.787+401T>A (n.787+401T>A)
c.785T>A
c.409+401T>A (n.409+401T>A)
c.412+401T>A (n.412+401T>A)
c.*1124T>A (n.*1124T>A)
c.5-30392T>A (n.5-30392T>A)
c.-43-19822T>A (n.-43-19822T>A)
c.-99+30928T>A (n.-99+30928T>A)
n.1324T>A
n.1365T>A
 dbSNP
17g.43094343_43094344insCTCTACTCCACTCA2733925662BRCA1n.1251_1252insAGTGGAGTAGAG
c.1187_1188insAGTGGAGTAGAG (p.Asp396GlufsTer4)
c.1061_1062insAGTGGAGTAGAG (p.Asp354GlufsTer4)
c.1184_1185insAGTGGAGTAGAG (p.Asp395GlufsTer4)
c.1109_1110insAGTGGAGTAGAG (p.Asp370GlufsTer4)
c.784+400_784+401insAGTGGAGTAGAG (n.784+400_784+401insAGTGGAGTAGAG)
c.646+400_646+401insAGTGGAGTAGAG (n.646+400_646+401insAGTGGAGTAGAG)
c.299_300insAGTGGAGTAGAG (p.Asp100GlufsTer4)
c.1064_1065insAGTGGAGTAGAG (p.Asp355GlufsTer4)
c.1046_1047insAGTGGAGTAGAG (p.Asp349GlufsTer4)
c.664+400_664+401insAGTGGAGTAGAG (n.664+400_664+401insAGTGGAGTAGAG)
c.706+400_706+401insAGTGGAGTAGAG (n.706+400_706+401insAGTGGAGTAGAG)
c.*1195_*1196insAGTGGAGTAGAG (n.*1195_*1196insAGTGGAGTAGAG)
c.670+1502_670+1503insAGTGGAGTAGAG (n.670+1502_670+1503insAGTGGAGTAGAG)
c.538_539insAGTGGAGTAGAG
c.*970_*971insAGTGGAGTAGAG (n.*970_*971insAGTGGAGTAGAG)
c.787+400_787+401insAGTGGAGTAGAG (n.787+400_787+401insAGTGGAGTAGAG)
c.784_785insAGTGGAGTAGAG
c.409+400_409+401insAGTGGAGTAGAG (n.409+400_409+401insAGTGGAGTAGAG)
c.412+400_412+401insAGTGGAGTAGAG (n.412+400_412+401insAGTGGAGTAGAG)
c.*1123_*1124insAGTGGAGTAGAG (n.*1123_*1124insAGTGGAGTAGAG)
c.5-30393_5-30392insAGTGGAGTAGAG (n.5-30393_5-30392insAGTGGAGTAGAG)
c.-43-19823_-43-19822insAGTGGAGTAGAG (n.-43-19823_-43-19822insAGTGGAGTAGAG)
c.-99+30927_-99+30928insAGTGGAGTAGAG (n.-99+30927_-99+30928insAGTGGAGTAGAG)
n.1323_1324insAGTGGAGTAGAG
n.1364_1365insAGTGGAGTAGAG
 dbSNP
17g.43094344T>ACA10599676BRCA1n.1251A>T
c.1187A>T (p.Asp396Val)
c.1061A>T (p.Asp354Val)
c.1184A>T (p.Asp395Val)
c.1109A>T (p.Asp370Val)
c.784+400A>T (n.784+400A>T)
c.646+400A>T (n.646+400A>T)
c.299A>T (p.Asp100Val)
c.1064A>T (p.Asp355Val)
c.1046A>T (p.Asp349Val)
c.664+400A>T (n.664+400A>T)
c.706+400A>T (n.706+400A>T)
c.*1195A>T (n.*1195A>T)
c.670+1502A>T (n.670+1502A>T)
c.538A>T
c.*970A>T (n.*970A>T)
c.787+400A>T (n.787+400A>T)
c.784A>T
c.409+400A>T (n.409+400A>T)
c.412+400A>T (n.412+400A>T)
c.*1123A>T (n.*1123A>T)
c.5-30393A>T (n.5-30393A>T)
c.-43-19823A>T (n.-43-19823A>T)
c.-99+30927A>T (n.-99+30927A>T)
n.1323A>T
n.1364A>T
 ClinVar dbSNP gnomAD v4
17g.43094344T>CCA10599677BRCA1n.1251A>G
c.1187A>G (p.Asp396Gly)
c.1061A>G (p.Asp354Gly)
c.1184A>G (p.Asp395Gly)
c.1109A>G (p.Asp370Gly)
c.784+400A>G (n.784+400A>G)
c.646+400A>G (n.646+400A>G)
c.299A>G (p.Asp100Gly)
c.1064A>G (p.Asp355Gly)
c.1046A>G (p.Asp349Gly)
c.664+400A>G (n.664+400A>G)
c.706+400A>G (n.706+400A>G)
c.*1195A>G (n.*1195A>G)
c.670+1502A>G (n.670+1502A>G)
c.538A>G
c.*970A>G (n.*970A>G)
c.787+400A>G (n.787+400A>G)
c.784A>G
c.409+400A>G (n.409+400A>G)
c.412+400A>G (n.412+400A>G)
c.*1123A>G (n.*1123A>G)
c.5-30393A>G (n.5-30393A>G)
c.-43-19823A>G (n.-43-19823A>G)
c.-99+30927A>G (n.-99+30927A>G)
n.1323A>G
n.1364A>G
 ClinVar dbSNP
17g.43094344T>GCA10599678BRCA1n.1251A>C
c.1187A>C (p.Asp396Ala)
c.1061A>C (p.Asp354Ala)
c.1184A>C (p.Asp395Ala)
c.1109A>C (p.Asp370Ala)
c.784+400A>C (n.784+400A>C)
c.646+400A>C (n.646+400A>C)
c.299A>C (p.Asp100Ala)
c.1064A>C (p.Asp355Ala)
c.1046A>C (p.Asp349Ala)
c.664+400A>C (n.664+400A>C)
c.706+400A>C (n.706+400A>C)
c.*1195A>C (n.*1195A>C)
c.670+1502A>C (n.670+1502A>C)
c.538A>C
c.*970A>C (n.*970A>C)
c.787+400A>C (n.787+400A>C)
c.784A>C
c.409+400A>C (n.409+400A>C)
c.412+400A>C (n.412+400A>C)
c.*1123A>C (n.*1123A>C)
c.5-30393A>C (n.5-30393A>C)
c.-43-19823A>C (n.-43-19823A>C)
c.-99+30927A>C (n.-99+30927A>C)
n.1323A>C
n.1364A>C
 dbSNP
17g.43094344T=CA2260784845BRCA1n.1251A=
c.1187A= (p.Asp396=)
c.1061A= (p.Asp354=)
c.1184A= (p.Asp395=)
c.1109A= (p.Asp370=)
c.784+400A= (n.784+400A=)
c.646+400A= (n.646+400A=)
c.299A= (p.Asp100=)
c.1064A= (p.Asp355=)
c.1046A= (p.Asp349=)
c.664+400A= (n.664+400A=)
c.706+400A= (n.706+400A=)
c.*1195A= (n.*1195A=)
c.670+1502A= (n.670+1502A=)
c.538A=
c.*970A= (n.*970A=)
c.787+400A= (n.787+400A=)
c.784A=
c.409+400A= (n.409+400A=)
c.412+400A= (n.412+400A=)
c.*1123A= (n.*1123A=)
c.5-30393A= (n.5-30393A=)
c.-43-19823A= (n.-43-19823A=)
c.-99+30927A= (n.-99+30927A=)
n.1323A=
n.1364A=
17g.43094345C>ACA10599679BRCA1n.1250G>T
c.1186G>T (p.Asp396Tyr)
c.1060G>T (p.Asp354Tyr)
c.1183G>T (p.Asp395Tyr)
c.1108G>T (p.Asp370Tyr)
c.784+399G>T (n.784+399G>T)
c.646+399G>T (n.646+399G>T)
c.298G>T (p.Asp100Tyr)
c.1063G>T (p.Asp355Tyr)
c.1045G>T (p.Asp349Tyr)
c.664+399G>T (n.664+399G>T)
c.706+399G>T (n.706+399G>T)
c.*1194G>T (n.*1194G>T)
c.670+1501G>T (n.670+1501G>T)
c.537G>T
c.*969G>T (n.*969G>T)
c.787+399G>T (n.787+399G>T)
c.783G>T
c.409+399G>T (n.409+399G>T)
c.412+399G>T (n.412+399G>T)
c.*1122G>T (n.*1122G>T)
c.5-30394G>T (n.5-30394G>T)
c.-43-19824G>T (n.-43-19824G>T)
c.-99+30926G>T (n.-99+30926G>T)
n.1322G>T
n.1363G>T
 dbSNP
17g.43094345C=CA2260784846BRCA1n.1250G=
c.1186G= (p.Asp396=)
c.1060G= (p.Asp354=)
c.1183G= (p.Asp395=)
c.1108G= (p.Asp370=)
c.784+399G= (n.784+399G=)
c.646+399G= (n.646+399G=)
c.298G= (p.Asp100=)
c.1063G= (p.Asp355=)
c.1045G= (p.Asp349=)
c.664+399G= (n.664+399G=)
c.706+399G= (n.706+399G=)
c.*1194G= (n.*1194G=)
c.670+1501G= (n.670+1501G=)
c.537G=
c.*969G= (n.*969G=)
c.787+399G= (n.787+399G=)
c.783G=
c.409+399G= (n.409+399G=)
c.412+399G= (n.412+399G=)
c.*1122G= (n.*1122G=)
c.5-30394G= (n.5-30394G=)
c.-43-19824G= (n.-43-19824G=)
c.-99+30926G= (n.-99+30926G=)
n.1322G=
n.1363G=
17g.43094345C>GCA10599680BRCA1n.1250G>C
c.1186G>C (p.Asp396His)
c.1060G>C (p.Asp354His)
c.1183G>C (p.Asp395His)
c.1108G>C (p.Asp370His)
c.784+399G>C (n.784+399G>C)
c.646+399G>C (n.646+399G>C)
c.298G>C (p.Asp100His)
c.1063G>C (p.Asp355His)
c.1045G>C (p.Asp349His)
c.664+399G>C (n.664+399G>C)
c.706+399G>C (n.706+399G>C)
c.*1194G>C (n.*1194G>C)
c.670+1501G>C (n.670+1501G>C)
c.537G>C
c.*969G>C (n.*969G>C)
c.787+399G>C (n.787+399G>C)
c.783G>C
c.409+399G>C (n.409+399G>C)
c.412+399G>C (n.412+399G>C)
c.*1122G>C (n.*1122G>C)
c.5-30394G>C (n.5-30394G>C)
c.-43-19824G>C (n.-43-19824G>C)
c.-99+30926G>C (n.-99+30926G>C)
n.1322G>C
n.1363G>C
 dbSNP

Number of alleles fetched