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.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
17g.43094345C>TCA000782BRCA1n.1250G>A
c.1186G>A (p.Asp396Asn)
c.1060G>A (p.Asp354Asn)
c.1183G>A (p.Asp395Asn)
c.1108G>A (p.Asp370Asn)
c.784+399G>A (n.784+399G>A)
c.646+399G>A (n.646+399G>A)
c.298G>A (p.Asp100Asn)
c.1063G>A (p.Asp355Asn)
c.1045G>A (p.Asp349Asn)
c.664+399G>A (n.664+399G>A)
c.706+399G>A (n.706+399G>A)
c.*1194G>A (n.*1194G>A)
c.670+1501G>A (n.670+1501G>A)
c.537G>A
c.*969G>A (n.*969G>A)
c.787+399G>A (n.787+399G>A)
c.783G>A
c.409+399G>A (n.409+399G>A)
c.412+399G>A (n.412+399G>A)
c.*1122G>A (n.*1122G>A)
c.5-30394G>A (n.5-30394G>A)
c.-43-19824G>A (n.-43-19824G>A)
c.-99+30926G>A (n.-99+30926G>A)
n.1322G>A
n.1363G>A
 ClinVar dbSNP gnomAD v4
17g.43094346A>CCA500233614BRCA1n.1249T>G
c.1185T>G (p.Ser395=)
c.1059T>G (p.Ser353=)
c.1182T>G (p.Ser394=)
c.1107T>G (p.Ser369=)
c.784+398T>G (n.784+398T>G)
c.646+398T>G (n.646+398T>G)
c.297T>G (p.Ser99=)
c.1062T>G (p.Ser354=)
c.1044T>G (p.Ser348=)
c.664+398T>G (n.664+398T>G)
c.706+398T>G (n.706+398T>G)
c.*1193T>G (n.*1193T>G)
c.670+1500T>G (n.670+1500T>G)
c.536T>G
c.*968T>G (n.*968T>G)
c.787+398T>G (n.787+398T>G)
c.782T>G
c.409+398T>G (n.409+398T>G)
c.412+398T>G (n.412+398T>G)
c.*1121T>G (n.*1121T>G)
c.5-30395T>G (n.5-30395T>G)
c.-43-19825T>G (n.-43-19825T>G)
c.-99+30925T>G (n.-99+30925T>G)
n.1321T>G
n.1362T>G
17g.43094346A>GCA500233615BRCA1n.1249T>C
c.1185T>C (p.Ser395=)
c.1059T>C (p.Ser353=)
c.1182T>C (p.Ser394=)
c.1107T>C (p.Ser369=)
c.784+398T>C (n.784+398T>C)
c.646+398T>C (n.646+398T>C)
c.297T>C (p.Ser99=)
c.1062T>C (p.Ser354=)
c.1044T>C (p.Ser348=)
c.664+398T>C (n.664+398T>C)
c.706+398T>C (n.706+398T>C)
c.*1193T>C (n.*1193T>C)
c.670+1500T>C (n.670+1500T>C)
c.536T>C
c.*968T>C (n.*968T>C)
c.787+398T>C (n.787+398T>C)
c.782T>C
c.409+398T>C (n.409+398T>C)
c.412+398T>C (n.412+398T>C)
c.*1121T>C (n.*1121T>C)
c.5-30395T>C (n.5-30395T>C)
c.-43-19825T>C (n.-43-19825T>C)
c.-99+30925T>C (n.-99+30925T>C)
n.1321T>C
n.1362T>C
 dbSNP
17g.43094346A>TCA500233616BRCA1n.1249T>A
c.1185T>A (p.Ser395=)
c.1059T>A (p.Ser353=)
c.1182T>A (p.Ser394=)
c.1107T>A (p.Ser369=)
c.784+398T>A (n.784+398T>A)
c.646+398T>A (n.646+398T>A)
c.297T>A (p.Ser99=)
c.1062T>A (p.Ser354=)
c.1044T>A (p.Ser348=)
c.664+398T>A (n.664+398T>A)
c.706+398T>A (n.706+398T>A)
c.*1193T>A (n.*1193T>A)
c.670+1500T>A (n.670+1500T>A)
c.536T>A
c.*968T>A (n.*968T>A)
c.787+398T>A (n.787+398T>A)
c.782T>A
c.409+398T>A (n.409+398T>A)
c.412+398T>A (n.412+398T>A)
c.*1121T>A (n.*1121T>A)
c.5-30395T>A (n.5-30395T>A)
c.-43-19825T>A (n.-43-19825T>A)
c.-99+30925T>A (n.-99+30925T>A)
n.1321T>A
n.1362T>A
 dbSNP
17g.43094347G>ACA10599681BRCA1n.1248C>T
c.1184C>T (p.Ser395Phe)
c.1058C>T (p.Ser353Phe)
c.1181C>T (p.Ser394Phe)
c.1106C>T (p.Ser369Phe)
c.784+397C>T (n.784+397C>T)
c.646+397C>T (n.646+397C>T)
c.296C>T (p.Ser99Phe)
c.1061C>T (p.Ser354Phe)
c.1043C>T (p.Ser348Phe)
c.664+397C>T (n.664+397C>T)
c.706+397C>T (n.706+397C>T)
c.*1192C>T (n.*1192C>T)
c.670+1499C>T (n.670+1499C>T)
c.535C>T
c.*967C>T (n.*967C>T)
c.787+397C>T (n.787+397C>T)
c.781C>T
c.409+397C>T (n.409+397C>T)
c.412+397C>T (n.412+397C>T)
c.*1120C>T (n.*1120C>T)
c.5-30396C>T (n.5-30396C>T)
c.-43-19826C>T (n.-43-19826C>T)
c.-99+30924C>T (n.-99+30924C>T)
n.1320C>T
n.1361C>T
 dbSNP
17g.43094347G>CCA10599682BRCA1n.1248C>G
c.1184C>G (p.Ser395Cys)
c.1058C>G (p.Ser353Cys)
c.1181C>G (p.Ser394Cys)
c.1106C>G (p.Ser369Cys)
c.784+397C>G (n.784+397C>G)
c.646+397C>G (n.646+397C>G)
c.296C>G (p.Ser99Cys)
c.1061C>G (p.Ser354Cys)
c.1043C>G (p.Ser348Cys)
c.664+397C>G (n.664+397C>G)
c.706+397C>G (n.706+397C>G)
c.*1192C>G (n.*1192C>G)
c.670+1499C>G (n.670+1499C>G)
c.535C>G
c.*967C>G (n.*967C>G)
c.787+397C>G (n.787+397C>G)
c.781C>G
c.409+397C>G (n.409+397C>G)
c.412+397C>G (n.412+397C>G)
c.*1120C>G (n.*1120C>G)
c.5-30396C>G (n.5-30396C>G)
c.-43-19826C>G (n.-43-19826C>G)
c.-99+30924C>G (n.-99+30924C>G)
n.1320C>G
n.1361C>G
17g.43094347G>TCA10599683BRCA1n.1248C>A
c.1184C>A (p.Ser395Tyr)
c.1058C>A (p.Ser353Tyr)
c.1181C>A (p.Ser394Tyr)
c.1106C>A (p.Ser369Tyr)
c.784+397C>A (n.784+397C>A)
c.646+397C>A (n.646+397C>A)
c.296C>A (p.Ser99Tyr)
c.1061C>A (p.Ser354Tyr)
c.1043C>A (p.Ser348Tyr)
c.664+397C>A (n.664+397C>A)
c.706+397C>A (n.706+397C>A)
c.*1192C>A (n.*1192C>A)
c.670+1499C>A (n.670+1499C>A)
c.535C>A
c.*967C>A (n.*967C>A)
c.787+397C>A (n.787+397C>A)
c.781C>A
c.409+397C>A (n.409+397C>A)
c.412+397C>A (n.412+397C>A)
c.*1120C>A (n.*1120C>A)
c.5-30396C>A (n.5-30396C>A)
c.-43-19826C>A (n.-43-19826C>A)
c.-99+30924C>A (n.-99+30924C>A)
n.1320C>A
n.1361C>A
17g.43094348A>CCA10599684BRCA1n.1247T>G
c.1183T>G (p.Ser395Ala)
c.1057T>G (p.Ser353Ala)
c.1180T>G (p.Ser394Ala)
c.1105T>G (p.Ser369Ala)
c.784+396T>G (n.784+396T>G)
c.646+396T>G (n.646+396T>G)
c.295T>G (p.Ser99Ala)
c.1060T>G (p.Ser354Ala)
c.1042T>G (p.Ser348Ala)
c.664+396T>G (n.664+396T>G)
c.706+396T>G (n.706+396T>G)
c.*1191T>G (n.*1191T>G)
c.670+1498T>G (n.670+1498T>G)
c.534T>G
c.*966T>G (n.*966T>G)
c.787+396T>G (n.787+396T>G)
c.780T>G
c.409+396T>G (n.409+396T>G)
c.412+396T>G (n.412+396T>G)
c.*1119T>G (n.*1119T>G)
c.5-30397T>G (n.5-30397T>G)
c.-43-19827T>G (n.-43-19827T>G)
c.-99+30923T>G (n.-99+30923T>G)
n.1319T>G
n.1360T>G
 dbSNP
17g.43094348A>GCA10599685BRCA1n.1247T>C
c.1183T>C (p.Ser395Pro)
c.1057T>C (p.Ser353Pro)
c.1180T>C (p.Ser394Pro)
c.1105T>C (p.Ser369Pro)
c.784+396T>C (n.784+396T>C)
c.646+396T>C (n.646+396T>C)
c.295T>C (p.Ser99Pro)
c.1060T>C (p.Ser354Pro)
c.1042T>C (p.Ser348Pro)
c.664+396T>C (n.664+396T>C)
c.706+396T>C (n.706+396T>C)
c.*1191T>C (n.*1191T>C)
c.670+1498T>C (n.670+1498T>C)
c.534T>C
c.*966T>C (n.*966T>C)
c.787+396T>C (n.787+396T>C)
c.780T>C
c.409+396T>C (n.409+396T>C)
c.412+396T>C (n.412+396T>C)
c.*1119T>C (n.*1119T>C)
c.5-30397T>C (n.5-30397T>C)
c.-43-19827T>C (n.-43-19827T>C)
c.-99+30923T>C (n.-99+30923T>C)
n.1319T>C
n.1360T>C
 dbSNP
17g.43094348A>TCA10599686BRCA1n.1247T>A
c.1183T>A (p.Ser395Thr)
c.1057T>A (p.Ser353Thr)
c.1180T>A (p.Ser394Thr)
c.1105T>A (p.Ser369Thr)
c.784+396T>A (n.784+396T>A)
c.646+396T>A (n.646+396T>A)
c.295T>A (p.Ser99Thr)
c.1060T>A (p.Ser354Thr)
c.1042T>A (p.Ser348Thr)
c.664+396T>A (n.664+396T>A)
c.706+396T>A (n.706+396T>A)
c.*1191T>A (n.*1191T>A)
c.670+1498T>A (n.670+1498T>A)
c.534T>A
c.*966T>A (n.*966T>A)
c.787+396T>A (n.787+396T>A)
c.780T>A
c.409+396T>A (n.409+396T>A)
c.412+396T>A (n.412+396T>A)
c.*1119T>A (n.*1119T>A)
c.5-30397T>A (n.5-30397T>A)
c.-43-19827T>A (n.-43-19827T>A)
c.-99+30923T>A (n.-99+30923T>A)
n.1319T>A
n.1360T>A
 dbSNP
17g.43094349A>CCA500233623BRCA1n.1246T>G
c.1182T>G (p.Gly394=)
c.1056T>G (p.Gly352=)
c.1179T>G (p.Gly393=)
c.1104T>G (p.Gly368=)
c.784+395T>G (n.784+395T>G)
c.646+395T>G (n.646+395T>G)
c.294T>G (p.Gly98=)
c.1059T>G (p.Gly353=)
c.1041T>G (p.Gly347=)
c.664+395T>G (n.664+395T>G)
c.706+395T>G (n.706+395T>G)
c.*1190T>G (n.*1190T>G)
c.670+1497T>G (n.670+1497T>G)
c.533T>G
c.*965T>G (n.*965T>G)
c.787+395T>G (n.787+395T>G)
c.779T>G
c.409+395T>G (n.409+395T>G)
c.412+395T>G (n.412+395T>G)
c.*1118T>G (n.*1118T>G)
c.5-30398T>G (n.5-30398T>G)
c.-43-19828T>G (n.-43-19828T>G)
c.-99+30922T>G (n.-99+30922T>G)
n.1318T>G
n.1359T>G
 dbSNP
17g.43094349A>GCA500233625BRCA1n.1246T>C
c.1182T>C (p.Gly394=)
c.1056T>C (p.Gly352=)
c.1179T>C (p.Gly393=)
c.1104T>C (p.Gly368=)
c.784+395T>C (n.784+395T>C)
c.646+395T>C (n.646+395T>C)
c.294T>C (p.Gly98=)
c.1059T>C (p.Gly353=)
c.1041T>C (p.Gly347=)
c.664+395T>C (n.664+395T>C)
c.706+395T>C (n.706+395T>C)
c.*1190T>C (n.*1190T>C)
c.670+1497T>C (n.670+1497T>C)
c.533T>C
c.*965T>C (n.*965T>C)
c.787+395T>C (n.787+395T>C)
c.779T>C
c.409+395T>C (n.409+395T>C)
c.412+395T>C (n.412+395T>C)
c.*1118T>C (n.*1118T>C)
c.5-30398T>C (n.5-30398T>C)
c.-43-19828T>C (n.-43-19828T>C)
c.-99+30922T>C (n.-99+30922T>C)
n.1318T>C
n.1359T>C
 dbSNP gnomAD v4
17g.43094349A>TCA500233626BRCA1n.1246T>A
c.1182T>A (p.Gly394=)
c.1056T>A (p.Gly352=)
c.1179T>A (p.Gly393=)
c.1104T>A (p.Gly368=)
c.784+395T>A (n.784+395T>A)
c.646+395T>A (n.646+395T>A)
c.294T>A (p.Gly98=)
c.1059T>A (p.Gly353=)
c.1041T>A (p.Gly347=)
c.664+395T>A (n.664+395T>A)
c.706+395T>A (n.706+395T>A)
c.*1190T>A (n.*1190T>A)
c.670+1497T>A (n.670+1497T>A)
c.533T>A
c.*965T>A (n.*965T>A)
c.787+395T>A (n.787+395T>A)
c.779T>A
c.409+395T>A (n.409+395T>A)
c.412+395T>A (n.412+395T>A)
c.*1118T>A (n.*1118T>A)
c.5-30398T>A (n.5-30398T>A)
c.-43-19828T>A (n.-43-19828T>A)
c.-99+30922T>A (n.-99+30922T>A)
n.1318T>A
n.1359T>A
 ClinVar dbSNP
17g.43094350C>ACA10599687BRCA1n.1245G>T
c.1181G>T (p.Gly394Val)
c.1055G>T (p.Gly352Val)
c.1178G>T (p.Gly393Val)
c.1103G>T (p.Gly368Val)
c.784+394G>T (n.784+394G>T)
c.646+394G>T (n.646+394G>T)
c.293G>T (p.Gly98Val)
c.1058G>T (p.Gly353Val)
c.1040G>T (p.Gly347Val)
c.664+394G>T (n.664+394G>T)
c.706+394G>T (n.706+394G>T)
c.*1189G>T (n.*1189G>T)
c.670+1496G>T (n.670+1496G>T)
c.532G>T
c.*964G>T (n.*964G>T)
c.787+394G>T (n.787+394G>T)
c.778G>T
c.409+394G>T (n.409+394G>T)
c.412+394G>T (n.412+394G>T)
c.*1117G>T (n.*1117G>T)
c.5-30399G>T (n.5-30399G>T)
c.-43-19829G>T (n.-43-19829G>T)
c.-99+30921G>T (n.-99+30921G>T)
n.1317G>T
n.1358G>T
 ClinVar dbSNP
17g.43094350C=CA2260784847BRCA1n.1245G=
c.1181G= (p.Gly394=)
c.1055G= (p.Gly352=)
c.1178G= (p.Gly393=)
c.1103G= (p.Gly368=)
c.784+394G= (n.784+394G=)
c.646+394G= (n.646+394G=)
c.293G= (p.Gly98=)
c.1058G= (p.Gly353=)
c.1040G= (p.Gly347=)
c.664+394G= (n.664+394G=)
c.706+394G= (n.706+394G=)
c.*1189G= (n.*1189G=)
c.670+1496G= (n.670+1496G=)
c.532G=
c.*964G= (n.*964G=)
c.787+394G= (n.787+394G=)
c.778G=
c.409+394G= (n.409+394G=)
c.412+394G= (n.412+394G=)
c.*1117G= (n.*1117G=)
c.5-30399G= (n.5-30399G=)
c.-43-19829G= (n.-43-19829G=)
c.-99+30921G= (n.-99+30921G=)
n.1317G=
n.1358G=
17g.43094350C>GCA10599688BRCA1n.1245G>C
c.1181G>C (p.Gly394Ala)
c.1055G>C (p.Gly352Ala)
c.1178G>C (p.Gly393Ala)
c.1103G>C (p.Gly368Ala)
c.784+394G>C (n.784+394G>C)
c.646+394G>C (n.646+394G>C)
c.293G>C (p.Gly98Ala)
c.1058G>C (p.Gly353Ala)
c.1040G>C (p.Gly347Ala)
c.664+394G>C (n.664+394G>C)
c.706+394G>C (n.706+394G>C)
c.*1189G>C (n.*1189G>C)
c.670+1496G>C (n.670+1496G>C)
c.532G>C
c.*964G>C (n.*964G>C)
c.787+394G>C (n.787+394G>C)
c.778G>C
c.409+394G>C (n.409+394G>C)
c.412+394G>C (n.412+394G>C)
c.*1117G>C (n.*1117G>C)
c.5-30399G>C (n.5-30399G>C)
c.-43-19829G>C (n.-43-19829G>C)
c.-99+30921G>C (n.-99+30921G>C)
n.1317G>C
n.1358G>C
 dbSNP
17g.43094350C>TCA10599689BRCA1n.1245G>A
c.1181G>A (p.Gly394Asp)
c.1055G>A (p.Gly352Asp)
c.1178G>A (p.Gly393Asp)
c.1103G>A (p.Gly368Asp)
c.784+394G>A (n.784+394G>A)
c.646+394G>A (n.646+394G>A)
c.293G>A (p.Gly98Asp)
c.1058G>A (p.Gly353Asp)
c.1040G>A (p.Gly347Asp)
c.664+394G>A (n.664+394G>A)
c.706+394G>A (n.706+394G>A)
c.*1189G>A (n.*1189G>A)
c.670+1496G>A (n.670+1496G>A)
c.532G>A
c.*964G>A (n.*964G>A)
c.787+394G>A (n.787+394G>A)
c.778G>A
c.409+394G>A (n.409+394G>A)
c.412+394G>A (n.412+394G>A)
c.*1117G>A (n.*1117G>A)
c.5-30399G>A (n.5-30399G>A)
c.-43-19829G>A (n.-43-19829G>A)
c.-99+30921G>A (n.-99+30921G>A)
n.1317G>A
n.1358G>A
 ClinVar dbSNP
17g.43094350_43094351insACA658824536BRCA1n.1244_1245insT
c.1180_1181insT (p.Gly394ValfsTer3)
c.1054_1055insT (p.Gly352ValfsTer3)
c.1177_1178insT (p.Gly393ValfsTer3)
c.1102_1103insT (p.Gly368ValfsTer3)
c.784+393_784+394insT (n.784+393_784+394insT)
c.646+393_646+394insT (n.646+393_646+394insT)
c.292_293insT (p.Gly98ValfsTer3)
c.1057_1058insT (p.Gly353ValfsTer3)
c.1039_1040insT (p.Gly347ValfsTer3)
c.664+393_664+394insT (n.664+393_664+394insT)
c.706+393_706+394insT (n.706+393_706+394insT)
c.*1188_*1189insT (n.*1188_*1189insT)
c.670+1495_670+1496insT (n.670+1495_670+1496insT)
c.531_532insT
c.*963_*964insT (n.*963_*964insT)
c.787+393_787+394insT (n.787+393_787+394insT)
c.777_778insT
c.409+393_409+394insT (n.409+393_409+394insT)
c.412+393_412+394insT (n.412+393_412+394insT)
c.*1116_*1117insT (n.*1116_*1117insT)
c.5-30400_5-30399insT (n.5-30400_5-30399insT)
c.-43-19830_-43-19829insT (n.-43-19830_-43-19829insT)
c.-99+30920_-99+30921insT (n.-99+30920_-99+30921insT)
n.1316_1317insT
n.1357_1358insT
 ClinVar dbSNP
17g.43094351C>ACA10599690BRCA1n.1244G>T
c.1180G>T (p.Gly394Cys)
c.1054G>T (p.Gly352Cys)
c.1177G>T (p.Gly393Cys)
c.1102G>T (p.Gly368Cys)
c.784+393G>T (n.784+393G>T)
c.646+393G>T (n.646+393G>T)
c.292G>T (p.Gly98Cys)
c.1057G>T (p.Gly353Cys)
c.1039G>T (p.Gly347Cys)
c.664+393G>T (n.664+393G>T)
c.706+393G>T (n.706+393G>T)
c.*1188G>T (n.*1188G>T)
c.670+1495G>T (n.670+1495G>T)
c.531G>T
c.*963G>T (n.*963G>T)
c.787+393G>T (n.787+393G>T)
c.777G>T
c.409+393G>T (n.409+393G>T)
c.412+393G>T (n.412+393G>T)
c.*1116G>T (n.*1116G>T)
c.5-30400G>T (n.5-30400G>T)
c.-43-19830G>T (n.-43-19830G>T)
c.-99+30920G>T (n.-99+30920G>T)
n.1316G>T
n.1357G>T
 dbSNP
17g.43094351C=CA2260784848BRCA1n.1244G=
c.1180G= (p.Gly394=)
c.1054G= (p.Gly352=)
c.1177G= (p.Gly393=)
c.1102G= (p.Gly368=)
c.784+393G= (n.784+393G=)
c.646+393G= (n.646+393G=)
c.292G= (p.Gly98=)
c.1057G= (p.Gly353=)
c.1039G= (p.Gly347=)
c.664+393G= (n.664+393G=)
c.706+393G= (n.706+393G=)
c.*1188G= (n.*1188G=)
c.670+1495G= (n.670+1495G=)
c.531G=
c.*963G= (n.*963G=)
c.787+393G= (n.787+393G=)
c.777G=
c.409+393G= (n.409+393G=)
c.412+393G= (n.412+393G=)
c.*1116G= (n.*1116G=)
c.5-30400G= (n.5-30400G=)
c.-43-19830G= (n.-43-19830G=)
c.-99+30920G= (n.-99+30920G=)
n.1316G=
n.1357G=
17g.43094351C>GCA057066BRCA1n.1244G>C
c.1180G>C (p.Gly394Arg)
c.1054G>C (p.Gly352Arg)
c.1177G>C (p.Gly393Arg)
c.1102G>C (p.Gly368Arg)
c.784+393G>C (n.784+393G>C)
c.646+393G>C (n.646+393G>C)
c.292G>C (p.Gly98Arg)
c.1057G>C (p.Gly353Arg)
c.1039G>C (p.Gly347Arg)
c.664+393G>C (n.664+393G>C)
c.706+393G>C (n.706+393G>C)
c.*1188G>C (n.*1188G>C)
c.670+1495G>C (n.670+1495G>C)
c.531G>C
c.*963G>C (n.*963G>C)
c.787+393G>C (n.787+393G>C)
c.777G>C
c.409+393G>C (n.409+393G>C)
c.412+393G>C (n.412+393G>C)
c.*1116G>C (n.*1116G>C)
c.5-30400G>C (n.5-30400G>C)
c.-43-19830G>C (n.-43-19830G>C)
c.-99+30920G>C (n.-99+30920G>C)
n.1316G>C
n.1357G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43094351C>TCA10599691BRCA1n.1244G>A
c.1180G>A (p.Gly394Ser)
c.1054G>A (p.Gly352Ser)
c.1177G>A (p.Gly393Ser)
c.1102G>A (p.Gly368Ser)
c.784+393G>A (n.784+393G>A)
c.646+393G>A (n.646+393G>A)
c.292G>A (p.Gly98Ser)
c.1057G>A (p.Gly353Ser)
c.1039G>A (p.Gly347Ser)
c.664+393G>A (n.664+393G>A)
c.706+393G>A (n.706+393G>A)
c.*1188G>A (n.*1188G>A)
c.670+1495G>A (n.670+1495G>A)
c.531G>A
c.*963G>A (n.*963G>A)
c.787+393G>A (n.787+393G>A)
c.777G>A
c.409+393G>A (n.409+393G>A)
c.412+393G>A (n.412+393G>A)
c.*1116G>A (n.*1116G>A)
c.5-30400G>A (n.5-30400G>A)
c.-43-19830G>A (n.-43-19830G>A)
c.-99+30920G>A (n.-99+30920G>A)
n.1316G>A
n.1357G>A
 ClinVar dbSNP

Number of alleles fetched