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.43094319_43094324delCA2638062640BRCA1n.1273_1278del
c.1209_1214del (p.Glu404_Ser405del)
c.1083_1088del (p.Glu362_Ser363del)
c.1206_1211del (p.Glu403_Ser404del)
c.1131_1136del (p.Glu378_Ser379del)
c.784+422_784+427del (n.784+422_784+427del)
c.646+422_646+427del (n.646+422_646+427del)
c.321_326del (p.Glu108_Ser109del)
c.1086_1091del (p.Glu363_Ser364del)
c.1068_1073del (p.Glu357_Ser358del)
c.664+422_664+427del (n.664+422_664+427del)
c.706+422_706+427del (n.706+422_706+427del)
c.*1217_*1222del (n.*1217_*1222del)
c.670+1524_670+1529del (n.670+1524_670+1529del)
c.560_565del
c.*992_*997del (n.*992_*997del)
c.787+422_787+427del (n.787+422_787+427del)
c.806_811del
c.409+422_409+427del (n.409+422_409+427del)
c.412+422_412+427del (n.412+422_412+427del)
c.*1145_*1150del (n.*1145_*1150del)
c.5-30371_5-30366del (n.5-30371_5-30366del)
c.-43-19801_-43-19796del (n.-43-19801_-43-19796del)
c.-99+30949_-99+30954del (n.-99+30949_-99+30954del)
n.1345_1350del
n.1386_1391del
 gnomAD v4
17g.43094318_43094357delCA000776BRCA1n.1239_1278del
c.1175_1214del (p.Leu392GlnfsTer5)
c.1049_1088del (p.Leu350GlnfsTer5)
c.1172_1211del (p.Leu391GlnfsTer5)
c.1097_1136del (p.Leu366GlnfsTer5)
c.784+388_784+427del (n.784+388_784+427del)
c.646+388_646+427del (n.646+388_646+427del)
c.287_326del (p.Leu96GlnfsTer5)
c.1052_1091del (p.Leu351GlnfsTer5)
c.1034_1073del (p.Leu345GlnfsTer5)
c.664+388_664+427del (n.664+388_664+427del)
c.706+388_706+427del (n.706+388_706+427del)
c.*1183_*1222del (n.*1183_*1222del)
c.670+1490_670+1529del (n.670+1490_670+1529del)
c.526_565del
c.*958_*997del (n.*958_*997del)
c.787+388_787+427del (n.787+388_787+427del)
c.772_811del
c.409+388_409+427del (n.409+388_409+427del)
c.412+388_412+427del (n.412+388_412+427del)
c.*1111_*1150del (n.*1111_*1150del)
c.5-30405_5-30366del (n.5-30405_5-30366del)
c.-43-19835_-43-19796del (n.-43-19835_-43-19796del)
c.-99+30915_-99+30954del (n.-99+30915_-99+30954del)
n.1311_1350del
n.1352_1391del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43094320T>ACA10599628BRCA1n.1275A>T
c.1211A>T (p.Glu404Val)
c.1085A>T (p.Glu362Val)
c.1208A>T (p.Glu403Val)
c.1133A>T (p.Glu378Val)
c.784+424A>T (n.784+424A>T)
c.646+424A>T (n.646+424A>T)
c.323A>T (p.Glu108Val)
c.1088A>T (p.Glu363Val)
c.1070A>T (p.Glu357Val)
c.664+424A>T (n.664+424A>T)
c.706+424A>T (n.706+424A>T)
c.*1219A>T (n.*1219A>T)
c.670+1526A>T (n.670+1526A>T)
c.562A>T
c.*994A>T (n.*994A>T)
c.787+424A>T (n.787+424A>T)
c.808A>T
c.409+424A>T (n.409+424A>T)
c.412+424A>T (n.412+424A>T)
c.*1147A>T (n.*1147A>T)
c.5-30369A>T (n.5-30369A>T)
c.-43-19799A>T (n.-43-19799A>T)
c.-99+30951A>T (n.-99+30951A>T)
n.1347A>T
n.1388A>T
 dbSNP
17g.43094320T>CCA10599629BRCA1n.1275A>G
c.1211A>G (p.Glu404Gly)
c.1085A>G (p.Glu362Gly)
c.1208A>G (p.Glu403Gly)
c.1133A>G (p.Glu378Gly)
c.784+424A>G (n.784+424A>G)
c.646+424A>G (n.646+424A>G)
c.323A>G (p.Glu108Gly)
c.1088A>G (p.Glu363Gly)
c.1070A>G (p.Glu357Gly)
c.664+424A>G (n.664+424A>G)
c.706+424A>G (n.706+424A>G)
c.*1219A>G (n.*1219A>G)
c.670+1526A>G (n.670+1526A>G)
c.562A>G
c.*994A>G (n.*994A>G)
c.787+424A>G (n.787+424A>G)
c.808A>G
c.409+424A>G (n.409+424A>G)
c.412+424A>G (n.412+424A>G)
c.*1147A>G (n.*1147A>G)
c.5-30369A>G (n.5-30369A>G)
c.-43-19799A>G (n.-43-19799A>G)
c.-99+30951A>G (n.-99+30951A>G)
n.1347A>G
n.1388A>G
 dbSNP
17g.43094320T>GCA10599630BRCA1n.1275A>C
c.1211A>C (p.Glu404Ala)
c.1085A>C (p.Glu362Ala)
c.1208A>C (p.Glu403Ala)
c.1133A>C (p.Glu378Ala)
c.784+424A>C (n.784+424A>C)
c.646+424A>C (n.646+424A>C)
c.323A>C (p.Glu108Ala)
c.1088A>C (p.Glu363Ala)
c.1070A>C (p.Glu357Ala)
c.664+424A>C (n.664+424A>C)
c.706+424A>C (n.706+424A>C)
c.*1219A>C (n.*1219A>C)
c.670+1526A>C (n.670+1526A>C)
c.562A>C
c.*994A>C (n.*994A>C)
c.787+424A>C (n.787+424A>C)
c.808A>C
c.409+424A>C (n.409+424A>C)
c.412+424A>C (n.412+424A>C)
c.*1147A>C (n.*1147A>C)
c.5-30369A>C (n.5-30369A>C)
c.-43-19799A>C (n.-43-19799A>C)
c.-99+30951A>C (n.-99+30951A>C)
n.1347A>C
n.1388A>C
 dbSNP
17g.43094320T=CA2260784821BRCA1n.1275A=
c.1211A= (p.Glu404=)
c.1085A= (p.Glu362=)
c.1208A= (p.Glu403=)
c.1133A= (p.Glu378=)
c.784+424A= (n.784+424A=)
c.646+424A= (n.646+424A=)
c.323A= (p.Glu108=)
c.1088A= (p.Glu363=)
c.1070A= (p.Glu357=)
c.664+424A= (n.664+424A=)
c.706+424A= (n.706+424A=)
c.*1219A= (n.*1219A=)
c.670+1526A= (n.670+1526A=)
c.562A=
c.*994A= (n.*994A=)
c.787+424A= (n.787+424A=)
c.808A=
c.409+424A= (n.409+424A=)
c.412+424A= (n.412+424A=)
c.*1147A= (n.*1147A=)
c.5-30369A= (n.5-30369A=)
c.-43-19799A= (n.-43-19799A=)
c.-99+30951A= (n.-99+30951A=)
n.1347A=
n.1388A=
17g.43094320_43094322delinsTCACA2260784820BRCA1n.1273_1275delinsTGA
c.1209_1211delinsTGA (p.Ser403=)
c.1083_1085delinsTGA (p.Ser361=)
c.1206_1208delinsTGA (p.Ser402=)
c.1131_1133delinsTGA (p.Ser377=)
c.784+422_784+424delinsTGA (n.784+422_784+424delinsTGA)
c.646+422_646+424delinsTGA (n.646+422_646+424delinsTGA)
c.321_323delinsTGA (p.Ser107=)
c.1086_1088delinsTGA (p.Ser362=)
c.1068_1070delinsTGA (p.Ser356=)
c.664+422_664+424delinsTGA (n.664+422_664+424delinsTGA)
c.706+422_706+424delinsTGA (n.706+422_706+424delinsTGA)
c.*1217_*1219delinsTGA (n.*1217_*1219delinsTGA)
c.670+1524_670+1526delinsTGA (n.670+1524_670+1526delinsTGA)
c.560_562delinsTGA
c.*992_*994delinsTGA (n.*992_*994delinsTGA)
c.787+422_787+424delinsTGA (n.787+422_787+424delinsTGA)
c.806_808delinsTGA
c.409+422_409+424delinsTGA (n.409+422_409+424delinsTGA)
c.412+422_412+424delinsTGA (n.412+422_412+424delinsTGA)
c.*1145_*1147delinsTGA (n.*1145_*1147delinsTGA)
c.5-30371_5-30369delinsTGA (n.5-30371_5-30369delinsTGA)
c.-43-19801_-43-19799delinsTGA (n.-43-19801_-43-19799delinsTGA)
c.-99+30949_-99+30951delinsTGA (n.-99+30949_-99+30951delinsTGA)
n.1345_1347delinsTGA
n.1386_1388delinsTGA
17g.43094320_43094321insAGCA10589959BRCA1n.1274_1275insCT
c.1210_1211insCT (p.Glu404AlafsTer7)
c.1084_1085insCT (p.Glu362AlafsTer7)
c.1207_1208insCT (p.Glu403AlafsTer7)
c.1132_1133insCT (p.Glu378AlafsTer7)
c.784+423_784+424insCT (n.784+423_784+424insCT)
c.646+423_646+424insCT (n.646+423_646+424insCT)
c.322_323insCT (p.Glu108AlafsTer7)
c.1087_1088insCT (p.Glu363AlafsTer7)
c.1069_1070insCT (p.Glu357AlafsTer7)
c.664+423_664+424insCT (n.664+423_664+424insCT)
c.706+423_706+424insCT (n.706+423_706+424insCT)
c.*1218_*1219insCT (n.*1218_*1219insCT)
c.670+1525_670+1526insCT (n.670+1525_670+1526insCT)
c.561_562insCT
c.*993_*994insCT (n.*993_*994insCT)
c.787+423_787+424insCT (n.787+423_787+424insCT)
c.807_808insCT
c.409+423_409+424insCT (n.409+423_409+424insCT)
c.412+423_412+424insCT (n.412+423_412+424insCT)
c.*1146_*1147insCT (n.*1146_*1147insCT)
c.5-30370_5-30369insCT (n.5-30370_5-30369insCT)
c.-43-19800_-43-19799insCT (n.-43-19800_-43-19799insCT)
c.-99+30950_-99+30951insCT (n.-99+30950_-99+30951insCT)
n.1346_1347insCT
n.1387_1388insCT
 ClinVar dbSNP
17g.43094321C>ACA10599631BRCA1n.1274G>T
c.1210G>T (p.Glu404Ter)
c.1084G>T (p.Glu362Ter)
c.1207G>T (p.Glu403Ter)
c.1132G>T (p.Glu378Ter)
c.784+423G>T (n.784+423G>T)
c.646+423G>T (n.646+423G>T)
c.322G>T (p.Glu108Ter)
c.1087G>T (p.Glu363Ter)
c.1069G>T (p.Glu357Ter)
c.664+423G>T (n.664+423G>T)
c.706+423G>T (n.706+423G>T)
c.*1218G>T (n.*1218G>T)
c.670+1525G>T (n.670+1525G>T)
c.561G>T
c.*993G>T (n.*993G>T)
c.787+423G>T (n.787+423G>T)
c.807G>T
c.409+423G>T (n.409+423G>T)
c.412+423G>T (n.412+423G>T)
c.*1146G>T (n.*1146G>T)
c.5-30370G>T (n.5-30370G>T)
c.-43-19800G>T (n.-43-19800G>T)
c.-99+30950G>T (n.-99+30950G>T)
n.1346G>T
n.1387G>T
 dbSNP
17g.43094321C=CA2260784822BRCA1n.1274G=
c.1210G= (p.Glu404=)
c.1084G= (p.Glu362=)
c.1207G= (p.Glu403=)
c.1132G= (p.Glu378=)
c.784+423G= (n.784+423G=)
c.646+423G= (n.646+423G=)
c.322G= (p.Glu108=)
c.1087G= (p.Glu363=)
c.1069G= (p.Glu357=)
c.664+423G= (n.664+423G=)
c.706+423G= (n.706+423G=)
c.*1218G= (n.*1218G=)
c.670+1525G= (n.670+1525G=)
c.561G=
c.*993G= (n.*993G=)
c.787+423G= (n.787+423G=)
c.807G=
c.409+423G= (n.409+423G=)
c.412+423G= (n.412+423G=)
c.*1146G= (n.*1146G=)
c.5-30370G= (n.5-30370G=)
c.-43-19800G= (n.-43-19800G=)
c.-99+30950G= (n.-99+30950G=)
n.1346G=
n.1387G=
17g.43094321C>GCA057098BRCA1n.1274G>C
c.1210G>C (p.Glu404Gln)
c.1084G>C (p.Glu362Gln)
c.1207G>C (p.Glu403Gln)
c.1132G>C (p.Glu378Gln)
c.784+423G>C (n.784+423G>C)
c.646+423G>C (n.646+423G>C)
c.322G>C (p.Glu108Gln)
c.1087G>C (p.Glu363Gln)
c.1069G>C (p.Glu357Gln)
c.664+423G>C (n.664+423G>C)
c.706+423G>C (n.706+423G>C)
c.*1218G>C (n.*1218G>C)
c.670+1525G>C (n.670+1525G>C)
c.561G>C
c.*993G>C (n.*993G>C)
c.787+423G>C (n.787+423G>C)
c.807G>C
c.409+423G>C (n.409+423G>C)
c.412+423G>C (n.412+423G>C)
c.*1146G>C (n.*1146G>C)
c.5-30370G>C (n.5-30370G>C)
c.-43-19800G>C (n.-43-19800G>C)
c.-99+30950G>C (n.-99+30950G>C)
n.1346G>C
n.1387G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.43094321C>TCA10599632BRCA1n.1274G>A
c.1210G>A (p.Glu404Lys)
c.1084G>A (p.Glu362Lys)
c.1207G>A (p.Glu403Lys)
c.1132G>A (p.Glu378Lys)
c.784+423G>A (n.784+423G>A)
c.646+423G>A (n.646+423G>A)
c.322G>A (p.Glu108Lys)
c.1087G>A (p.Glu363Lys)
c.1069G>A (p.Glu357Lys)
c.664+423G>A (n.664+423G>A)
c.706+423G>A (n.706+423G>A)
c.*1218G>A (n.*1218G>A)
c.670+1525G>A (n.670+1525G>A)
c.561G>A
c.*993G>A (n.*993G>A)
c.787+423G>A (n.787+423G>A)
c.807G>A
c.409+423G>A (n.409+423G>A)
c.412+423G>A (n.412+423G>A)
c.*1146G>A (n.*1146G>A)
c.5-30370G>A (n.5-30370G>A)
c.-43-19800G>A (n.-43-19800G>A)
c.-99+30950G>A (n.-99+30950G>A)
n.1346G>A
n.1387G>A
 dbSNP
17g.43094321_43094322delCA10589960BRCA1n.1273_1274del
c.1209_1210del (p.Glu404IlefsTer7)
c.1083_1084del (p.Glu362IlefsTer7)
c.1206_1207del (p.Glu403IlefsTer7)
c.1131_1132del (p.Glu378IlefsTer7)
c.784+422_784+423del (n.784+422_784+423del)
c.646+422_646+423del (n.646+422_646+423del)
c.321_322del (p.Glu108IlefsTer7)
c.1086_1087del (p.Glu363IlefsTer7)
c.1068_1069del (p.Glu357IlefsTer7)
c.664+422_664+423del (n.664+422_664+423del)
c.706+422_706+423del (n.706+422_706+423del)
c.*1217_*1218del (n.*1217_*1218del)
c.670+1524_670+1525del (n.670+1524_670+1525del)
c.560_561del
c.*992_*993del (n.*992_*993del)
c.787+422_787+423del (n.787+422_787+423del)
c.806_807del
c.409+422_409+423del (n.409+422_409+423del)
c.412+422_412+423del (n.412+422_412+423del)
c.*1145_*1146del (n.*1145_*1146del)
c.5-30371_5-30370del (n.5-30371_5-30370del)
c.-43-19801_-43-19800del (n.-43-19801_-43-19800del)
c.-99+30949_-99+30950del (n.-99+30949_-99+30950del)
n.1345_1346del
n.1386_1387del
 ClinVar dbSNP
17g.43094321_43094322delinsCACA2260784823BRCA1n.1273_1274delinsTG
c.1209_1210delinsTG (p.Ser403=)
c.1083_1084delinsTG (p.Ser361=)
c.1206_1207delinsTG (p.Ser402=)
c.1131_1132delinsTG (p.Ser377=)
c.784+422_784+423delinsTG (n.784+422_784+423delinsTG)
c.646+422_646+423delinsTG (n.646+422_646+423delinsTG)
c.321_322delinsTG (p.Ser107=)
c.1086_1087delinsTG (p.Ser362=)
c.1068_1069delinsTG (p.Ser356=)
c.664+422_664+423delinsTG (n.664+422_664+423delinsTG)
c.706+422_706+423delinsTG (n.706+422_706+423delinsTG)
c.*1217_*1218delinsTG (n.*1217_*1218delinsTG)
c.670+1524_670+1525delinsTG (n.670+1524_670+1525delinsTG)
c.560_561delinsTG
c.*992_*993delinsTG (n.*992_*993delinsTG)
c.787+422_787+423delinsTG (n.787+422_787+423delinsTG)
c.806_807delinsTG
c.409+422_409+423delinsTG (n.409+422_409+423delinsTG)
c.412+422_412+423delinsTG (n.412+422_412+423delinsTG)
c.*1145_*1146delinsTG (n.*1145_*1146delinsTG)
c.5-30371_5-30370delinsTG (n.5-30371_5-30370delinsTG)
c.-43-19801_-43-19800delinsTG (n.-43-19801_-43-19800delinsTG)
c.-99+30949_-99+30950delinsTG (n.-99+30949_-99+30950delinsTG)
n.1345_1346delinsTG
n.1386_1387delinsTG
17g.43094322delCA913188896BRCA1n.1273del
c.1209del (p.Glu404AsnfsTer6)
c.1083del (p.Glu362AsnfsTer6)
c.1206del (p.Glu403AsnfsTer6)
c.1131del (p.Glu378AsnfsTer6)
c.784+422del (n.784+422del)
c.646+422del (n.646+422del)
c.321del (p.Glu108AsnfsTer6)
c.1086del (p.Glu363AsnfsTer6)
c.1068del (p.Glu357AsnfsTer6)
c.664+422del (n.664+422del)
c.706+422del (n.706+422del)
c.*1217del (n.*1217del)
c.670+1524del (n.670+1524del)
c.560del
c.*992del (n.*992del)
c.787+422del (n.787+422del)
c.806del
c.409+422del (n.409+422del)
c.412+422del (n.412+422del)
c.*1145del (n.*1145del)
c.5-30371del (n.5-30371del)
c.-43-19801del (n.-43-19801del)
c.-99+30949del (n.-99+30949del)
n.1345del
n.1386del
 ClinVar dbSNP
17g.43094322A=CA2260784824BRCA1n.1273T=
c.1209T= (p.Ser403=)
c.1083T= (p.Ser361=)
c.1206T= (p.Ser402=)
c.1131T= (p.Ser377=)
c.784+422T= (n.784+422T=)
c.646+422T= (n.646+422T=)
c.321T= (p.Ser107=)
c.1086T= (p.Ser362=)
c.1068T= (p.Ser356=)
c.664+422T= (n.664+422T=)
c.706+422T= (n.706+422T=)
c.*1217T= (n.*1217T=)
c.670+1524T= (n.670+1524T=)
c.560T=
c.*992T= (n.*992T=)
c.787+422T= (n.787+422T=)
c.806T=
c.409+422T= (n.409+422T=)
c.412+422T= (n.412+422T=)
c.*1145T= (n.*1145T=)
c.5-30371T= (n.5-30371T=)
c.-43-19801T= (n.-43-19801T=)
c.-99+30949T= (n.-99+30949T=)
n.1345T=
n.1386T=
17g.43094322A>CCA500233565BRCA1n.1273T>G
c.1209T>G (p.Ser403=)
c.1083T>G (p.Ser361=)
c.1206T>G (p.Ser402=)
c.1131T>G (p.Ser377=)
c.784+422T>G (n.784+422T>G)
c.646+422T>G (n.646+422T>G)
c.321T>G (p.Ser107=)
c.1086T>G (p.Ser362=)
c.1068T>G (p.Ser356=)
c.664+422T>G (n.664+422T>G)
c.706+422T>G (n.706+422T>G)
c.*1217T>G (n.*1217T>G)
c.670+1524T>G (n.670+1524T>G)
c.560T>G
c.*992T>G (n.*992T>G)
c.787+422T>G (n.787+422T>G)
c.806T>G
c.409+422T>G (n.409+422T>G)
c.412+422T>G (n.412+422T>G)
c.*1145T>G (n.*1145T>G)
c.5-30371T>G (n.5-30371T>G)
c.-43-19801T>G (n.-43-19801T>G)
c.-99+30949T>G (n.-99+30949T>G)
n.1345T>G
n.1386T>G
17g.43094322A>GCA057092BRCA1n.1273T>C
c.1209T>C (p.Ser403=)
c.1083T>C (p.Ser361=)
c.1206T>C (p.Ser402=)
c.1131T>C (p.Ser377=)
c.784+422T>C (n.784+422T>C)
c.646+422T>C (n.646+422T>C)
c.321T>C (p.Ser107=)
c.1086T>C (p.Ser362=)
c.1068T>C (p.Ser356=)
c.664+422T>C (n.664+422T>C)
c.706+422T>C (n.706+422T>C)
c.*1217T>C (n.*1217T>C)
c.670+1524T>C (n.670+1524T>C)
c.560T>C
c.*992T>C (n.*992T>C)
c.787+422T>C (n.787+422T>C)
c.806T>C
c.409+422T>C (n.409+422T>C)
c.412+422T>C (n.412+422T>C)
c.*1145T>C (n.*1145T>C)
c.5-30371T>C (n.5-30371T>C)
c.-43-19801T>C (n.-43-19801T>C)
c.-99+30949T>C (n.-99+30949T>C)
n.1345T>C
n.1386T>C
 ClinVar dbSNP ExAC gnomAD v2
17g.43094322A>TCA500233566BRCA1n.1273T>A
c.1209T>A (p.Ser403=)
c.1083T>A (p.Ser361=)
c.1206T>A (p.Ser402=)
c.1131T>A (p.Ser377=)
c.784+422T>A (n.784+422T>A)
c.646+422T>A (n.646+422T>A)
c.321T>A (p.Ser107=)
c.1086T>A (p.Ser362=)
c.1068T>A (p.Ser356=)
c.664+422T>A (n.664+422T>A)
c.706+422T>A (n.706+422T>A)
c.*1217T>A (n.*1217T>A)
c.670+1524T>A (n.670+1524T>A)
c.560T>A
c.*992T>A (n.*992T>A)
c.787+422T>A (n.787+422T>A)
c.806T>A
c.409+422T>A (n.409+422T>A)
c.412+422T>A (n.412+422T>A)
c.*1145T>A (n.*1145T>A)
c.5-30371T>A (n.5-30371T>A)
c.-43-19801T>A (n.-43-19801T>A)
c.-99+30949T>A (n.-99+30949T>A)
n.1345T>A
n.1386T>A
 dbSNP
17g.43094322dupCA10589961BRCA1n.1273dup
c.1209dup (p.Glu404Ter)
c.1083dup (p.Glu362Ter)
c.1206dup (p.Glu403Ter)
c.1131dup (p.Glu378Ter)
c.784+422dup (n.784+422dup)
c.646+422dup (n.646+422dup)
c.321dup (p.Glu108Ter)
c.1086dup (p.Glu363Ter)
c.1068dup (p.Glu357Ter)
c.664+422dup (n.664+422dup)
c.706+422dup (n.706+422dup)
c.*1217dup (n.*1217dup)
c.670+1524dup (n.670+1524dup)
c.560dup
c.*992dup (n.*992dup)
c.787+422dup (n.787+422dup)
c.806dup
c.409+422dup (n.409+422dup)
c.412+422dup (n.412+422dup)
c.*1145dup (n.*1145dup)
c.5-30371dup (n.5-30371dup)
c.-43-19801dup (n.-43-19801dup)
c.-99+30949dup (n.-99+30949dup)
n.1345dup
n.1386dup
 ClinVar dbSNP
17g.43094323_43094324dupCA658761287BRCA1n.1272_1273dup
c.1208_1209dup (p.Glu404LeufsTer7)
c.1082_1083dup (p.Glu362LeufsTer7)
c.1205_1206dup (p.Glu403LeufsTer7)
c.1130_1131dup (p.Glu378LeufsTer7)
c.784+421_784+422dup (n.784+421_784+422dup)
c.646+421_646+422dup (n.646+421_646+422dup)
c.320_321dup (p.Glu108LeufsTer7)
c.1085_1086dup (p.Glu363LeufsTer7)
c.1067_1068dup (p.Glu357LeufsTer7)
c.664+421_664+422dup (n.664+421_664+422dup)
c.706+421_706+422dup (n.706+421_706+422dup)
c.*1216_*1217dup (n.*1216_*1217dup)
c.670+1523_670+1524dup (n.670+1523_670+1524dup)
c.559_560dup
c.*991_*992dup (n.*991_*992dup)
c.787+421_787+422dup (n.787+421_787+422dup)
c.805_806dup
c.409+421_409+422dup (n.409+421_409+422dup)
c.412+421_412+422dup (n.412+421_412+422dup)
c.*1144_*1145dup (n.*1144_*1145dup)
c.5-30372_5-30371dup (n.5-30372_5-30371dup)
c.-43-19802_-43-19801dup (n.-43-19802_-43-19801dup)
c.-99+30948_-99+30949dup (n.-99+30948_-99+30949dup)
n.1344_1345dup
n.1385_1386dup
17g.43094323G>ACA000795BRCA1n.1272C>T
c.1208C>T (p.Ser403Phe)
c.1082C>T (p.Ser361Phe)
c.1205C>T (p.Ser402Phe)
c.1130C>T (p.Ser377Phe)
c.784+421C>T (n.784+421C>T)
c.646+421C>T (n.646+421C>T)
c.320C>T (p.Ser107Phe)
c.1085C>T (p.Ser362Phe)
c.1067C>T (p.Ser356Phe)
c.664+421C>T (n.664+421C>T)
c.706+421C>T (n.706+421C>T)
c.*1216C>T (n.*1216C>T)
c.670+1523C>T (n.670+1523C>T)
c.559C>T
c.*991C>T (n.*991C>T)
c.787+421C>T (n.787+421C>T)
c.805C>T
c.409+421C>T (n.409+421C>T)
c.412+421C>T (n.412+421C>T)
c.*1144C>T (n.*1144C>T)
c.5-30372C>T (n.5-30372C>T)
c.-43-19802C>T (n.-43-19802C>T)
c.-99+30948C>T (n.-99+30948C>T)
n.1344C>T
n.1385C>T
 ClinVar dbSNP
17g.43094323G>CCA10599633BRCA1n.1272C>G
c.1208C>G (p.Ser403Cys)
c.1082C>G (p.Ser361Cys)
c.1205C>G (p.Ser402Cys)
c.1130C>G (p.Ser377Cys)
c.784+421C>G (n.784+421C>G)
c.646+421C>G (n.646+421C>G)
c.320C>G (p.Ser107Cys)
c.1085C>G (p.Ser362Cys)
c.1067C>G (p.Ser356Cys)
c.664+421C>G (n.664+421C>G)
c.706+421C>G (n.706+421C>G)
c.*1216C>G (n.*1216C>G)
c.670+1523C>G (n.670+1523C>G)
c.559C>G
c.*991C>G (n.*991C>G)
c.787+421C>G (n.787+421C>G)
c.805C>G
c.409+421C>G (n.409+421C>G)
c.412+421C>G (n.412+421C>G)
c.*1144C>G (n.*1144C>G)
c.5-30372C>G (n.5-30372C>G)
c.-43-19802C>G (n.-43-19802C>G)
c.-99+30948C>G (n.-99+30948C>G)
n.1344C>G
n.1385C>G
 dbSNP
17g.43094323G=CA2260784825BRCA1n.1272C=
c.1208C= (p.Ser403=)
c.1082C= (p.Ser361=)
c.1205C= (p.Ser402=)
c.1130C= (p.Ser377=)
c.784+421C= (n.784+421C=)
c.646+421C= (n.646+421C=)
c.320C= (p.Ser107=)
c.1085C= (p.Ser362=)
c.1067C= (p.Ser356=)
c.664+421C= (n.664+421C=)
c.706+421C= (n.706+421C=)
c.*1216C= (n.*1216C=)
c.670+1523C= (n.670+1523C=)
c.559C=
c.*991C= (n.*991C=)
c.787+421C= (n.787+421C=)
c.805C=
c.409+421C= (n.409+421C=)
c.412+421C= (n.412+421C=)
c.*1144C= (n.*1144C=)
c.5-30372C= (n.5-30372C=)
c.-43-19802C= (n.-43-19802C=)
c.-99+30948C= (n.-99+30948C=)
n.1344C=
n.1385C=
17g.43094323G>TCA10599634BRCA1n.1272C>A
c.1208C>A (p.Ser403Tyr)
c.1082C>A (p.Ser361Tyr)
c.1205C>A (p.Ser402Tyr)
c.1130C>A (p.Ser377Tyr)
c.784+421C>A (n.784+421C>A)
c.646+421C>A (n.646+421C>A)
c.320C>A (p.Ser107Tyr)
c.1085C>A (p.Ser362Tyr)
c.1067C>A (p.Ser356Tyr)
c.664+421C>A (n.664+421C>A)
c.706+421C>A (n.706+421C>A)
c.*1216C>A (n.*1216C>A)
c.670+1523C>A (n.670+1523C>A)
c.559C>A
c.*991C>A (n.*991C>A)
c.787+421C>A (n.787+421C>A)
c.805C>A
c.409+421C>A (n.409+421C>A)
c.412+421C>A (n.412+421C>A)
c.*1144C>A (n.*1144C>A)
c.5-30372C>A (n.5-30372C>A)
c.-43-19802C>A (n.-43-19802C>A)
c.-99+30948C>A (n.-99+30948C>A)
n.1344C>A
n.1385C>A
 dbSNP
17g.43094324A=CA2260784826BRCA1n.1271T=
c.1207T= (p.Ser403=)
c.1081T= (p.Ser361=)
c.1204T= (p.Ser402=)
c.1129T= (p.Ser377=)
c.784+420T= (n.784+420T=)
c.646+420T= (n.646+420T=)
c.319T= (p.Ser107=)
c.1084T= (p.Ser362=)
c.1066T= (p.Ser356=)
c.664+420T= (n.664+420T=)
c.706+420T= (n.706+420T=)
c.*1215T= (n.*1215T=)
c.670+1522T= (n.670+1522T=)
c.558T=
c.*990T= (n.*990T=)
c.787+420T= (n.787+420T=)
c.804T=
c.409+420T= (n.409+420T=)
c.412+420T= (n.412+420T=)
c.*1143T= (n.*1143T=)
c.5-30373T= (n.5-30373T=)
c.-43-19803T= (n.-43-19803T=)
c.-99+30947T= (n.-99+30947T=)
n.1343T=
n.1384T=
17g.43094324A>CCA10599635BRCA1n.1271T>G
c.1207T>G (p.Ser403Ala)
c.1081T>G (p.Ser361Ala)
c.1204T>G (p.Ser402Ala)
c.1129T>G (p.Ser377Ala)
c.784+420T>G (n.784+420T>G)
c.646+420T>G (n.646+420T>G)
c.319T>G (p.Ser107Ala)
c.1084T>G (p.Ser362Ala)
c.1066T>G (p.Ser356Ala)
c.664+420T>G (n.664+420T>G)
c.706+420T>G (n.706+420T>G)
c.*1215T>G (n.*1215T>G)
c.670+1522T>G (n.670+1522T>G)
c.558T>G
c.*990T>G (n.*990T>G)
c.787+420T>G (n.787+420T>G)
c.804T>G
c.409+420T>G (n.409+420T>G)
c.412+420T>G (n.412+420T>G)
c.*1143T>G (n.*1143T>G)
c.5-30373T>G (n.5-30373T>G)
c.-43-19803T>G (n.-43-19803T>G)
c.-99+30947T>G (n.-99+30947T>G)
n.1343T>G
n.1384T>G
 ClinVar dbSNP gnomAD v4
17g.43094324A>GCA10599636BRCA1n.1271T>C
c.1207T>C (p.Ser403Pro)
c.1081T>C (p.Ser361Pro)
c.1204T>C (p.Ser402Pro)
c.1129T>C (p.Ser377Pro)
c.784+420T>C (n.784+420T>C)
c.646+420T>C (n.646+420T>C)
c.319T>C (p.Ser107Pro)
c.1084T>C (p.Ser362Pro)
c.1066T>C (p.Ser356Pro)
c.664+420T>C (n.664+420T>C)
c.706+420T>C (n.706+420T>C)
c.*1215T>C (n.*1215T>C)
c.670+1522T>C (n.670+1522T>C)
c.558T>C
c.*990T>C (n.*990T>C)
c.787+420T>C (n.787+420T>C)
c.804T>C
c.409+420T>C (n.409+420T>C)
c.412+420T>C (n.412+420T>C)
c.*1143T>C (n.*1143T>C)
c.5-30373T>C (n.5-30373T>C)
c.-43-19803T>C (n.-43-19803T>C)
c.-99+30947T>C (n.-99+30947T>C)
n.1343T>C
n.1384T>C
 ClinVar dbSNP gnomAD v4
17g.43094324A>TCA10599637BRCA1n.1271T>A
c.1207T>A (p.Ser403Thr)
c.1081T>A (p.Ser361Thr)
c.1204T>A (p.Ser402Thr)
c.1129T>A (p.Ser377Thr)
c.784+420T>A (n.784+420T>A)
c.646+420T>A (n.646+420T>A)
c.319T>A (p.Ser107Thr)
c.1084T>A (p.Ser362Thr)
c.1066T>A (p.Ser356Thr)
c.664+420T>A (n.664+420T>A)
c.706+420T>A (n.706+420T>A)
c.*1215T>A (n.*1215T>A)
c.670+1522T>A (n.670+1522T>A)
c.558T>A
c.*990T>A (n.*990T>A)
c.787+420T>A (n.787+420T>A)
c.804T>A
c.409+420T>A (n.409+420T>A)
c.412+420T>A (n.412+420T>A)
c.*1143T>A (n.*1143T>A)
c.5-30373T>A (n.5-30373T>A)
c.-43-19803T>A (n.-43-19803T>A)
c.-99+30947T>A (n.-99+30947T>A)
n.1343T>A
n.1384T>A
 dbSNP
17g.43094324_43094331delinsACTCCCCACA2260784827BRCA1n.1264_1271delinsTGGGGAGT
c.1200_1207delinsTGGGGAGT (p.Asp400=)
c.1074_1081delinsTGGGGAGT (p.Asp358=)
c.1197_1204delinsTGGGGAGT (p.Asp399=)
c.1122_1129delinsTGGGGAGT (p.Asp374=)
c.784+413_784+420delinsTGGGGAGT (n.784+413_784+420delinsTGGGGAGT)
c.646+413_646+420delinsTGGGGAGT (n.646+413_646+420delinsTGGGGAGT)
c.312_319delinsTGGGGAGT (p.Asp104=)
c.1077_1084delinsTGGGGAGT (p.Asp359=)
c.1059_1066delinsTGGGGAGT (p.Asp353=)
c.664+413_664+420delinsTGGGGAGT (n.664+413_664+420delinsTGGGGAGT)
c.706+413_706+420delinsTGGGGAGT (n.706+413_706+420delinsTGGGGAGT)
c.*1208_*1215delinsTGGGGAGT (n.*1208_*1215delinsTGGGGAGT)
c.670+1515_670+1522delinsTGGGGAGT (n.670+1515_670+1522delinsTGGGGAGT)
c.551_558delinsTGGGGAGT
c.*983_*990delinsTGGGGAGT (n.*983_*990delinsTGGGGAGT)
c.787+413_787+420delinsTGGGGAGT (n.787+413_787+420delinsTGGGGAGT)
c.797_804delinsTGGGGAGT
c.409+413_409+420delinsTGGGGAGT (n.409+413_409+420delinsTGGGGAGT)
c.412+413_412+420delinsTGGGGAGT (n.412+413_412+420delinsTGGGGAGT)
c.*1136_*1143delinsTGGGGAGT (n.*1136_*1143delinsTGGGGAGT)
c.5-30380_5-30373delinsTGGGGAGT (n.5-30380_5-30373delinsTGGGGAGT)
c.-43-19810_-43-19803delinsTGGGGAGT (n.-43-19810_-43-19803delinsTGGGGAGT)
c.-99+30940_-99+30947delinsTGGGGAGT (n.-99+30940_-99+30947delinsTGGGGAGT)
n.1336_1343delinsTGGGGAGT
n.1377_1384delinsTGGGGAGT
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

Number of alleles fetched