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.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
17g.43094325_43094331delinsACCTAACAGTTCATGTGAGCA658653707BRCA1n.1264_1270delinsCTCACATGAACTGTTAGGT
c.1200_1206delinsCTCACATGAACTGTTAGGT (p.Gly401_Glu402delinsSerHisGluLeuLeuGly)
c.1074_1080delinsCTCACATGAACTGTTAGGT (p.Gly359_Glu360delinsSerHisGluLeuLeuGly)
c.1197_1203delinsCTCACATGAACTGTTAGGT (p.Gly400_Glu401delinsSerHisGluLeuLeuGly)
c.1122_1128delinsCTCACATGAACTGTTAGGT (p.Gly375_Glu376delinsSerHisGluLeuLeuGly)
c.784+413_784+419delinsCTCACATGAACTGTTAGGT (n.784+413_784+419delinsCTCACATGAACTGTTAGGT)
c.646+413_646+419delinsCTCACATGAACTGTTAGGT (n.646+413_646+419delinsCTCACATGAACTGTTAGGT)
c.312_318delinsCTCACATGAACTGTTAGGT (p.Gly105_Glu106delinsSerHisGluLeuLeuGly)
c.1077_1083delinsCTCACATGAACTGTTAGGT (p.Gly360_Glu361delinsSerHisGluLeuLeuGly)
c.1059_1065delinsCTCACATGAACTGTTAGGT (p.Gly354_Glu355delinsSerHisGluLeuLeuGly)
c.664+413_664+419delinsCTCACATGAACTGTTAGGT (n.664+413_664+419delinsCTCACATGAACTGTTAGGT)
c.706+413_706+419delinsCTCACATGAACTGTTAGGT (n.706+413_706+419delinsCTCACATGAACTGTTAGGT)
c.*1208_*1214delinsCTCACATGAACTGTTAGGT (n.*1208_*1214delinsCTCACATGAACTGTTAGGT)
c.670+1515_670+1521delinsCTCACATGAACTGTTAGGT (n.670+1515_670+1521delinsCTCACATGAACTGTTAGGT)
c.551_557delinsCTCACATGAACTGTTAGGT
c.*983_*989delinsCTCACATGAACTGTTAGGT (n.*983_*989delinsCTCACATGAACTGTTAGGT)
c.787+413_787+419delinsCTCACATGAACTGTTAGGT (n.787+413_787+419delinsCTCACATGAACTGTTAGGT)
c.797_803delinsCTCACATGAACTGTTAGGT
c.409+413_409+419delinsCTCACATGAACTGTTAGGT (n.409+413_409+419delinsCTCACATGAACTGTTAGGT)
c.412+413_412+419delinsCTCACATGAACTGTTAGGT (n.412+413_412+419delinsCTCACATGAACTGTTAGGT)
c.*1136_*1142delinsCTCACATGAACTGTTAGGT (n.*1136_*1142delinsCTCACATGAACTGTTAGGT)
c.5-30380_5-30374delinsCTCACATGAACTGTTAGGT (n.5-30380_5-30374delinsCTCACATGAACTGTTAGGT)
c.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT (n.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT)
c.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT (n.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT)
n.1336_1342delinsCTCACATGAACTGTTAGGT
n.1377_1383delinsCTCACATGAACTGTTAGGT
ClinVar dbSNP
17g.43094331A>CCA10599649BRCA1n.1264T>G
c.1200T>G (p.Asp400Glu)
c.1074T>G (p.Asp358Glu)
c.1197T>G (p.Asp399Glu)
c.1122T>G (p.Asp374Glu)
c.784+413T>G (n.784+413T>G)
c.646+413T>G (n.646+413T>G)
c.312T>G (p.Asp104Glu)
c.1077T>G (p.Asp359Glu)
c.1059T>G (p.Asp353Glu)
c.664+413T>G (n.664+413T>G)
c.706+413T>G (n.706+413T>G)
c.*1208T>G (n.*1208T>G)
c.670+1515T>G (n.670+1515T>G)
c.551T>G
c.*983T>G (n.*983T>G)
c.787+413T>G (n.787+413T>G)
c.797T>G
c.409+413T>G (n.409+413T>G)
c.412+413T>G (n.412+413T>G)
c.*1136T>G (n.*1136T>G)
c.5-30380T>G (n.5-30380T>G)
c.-43-19810T>G (n.-43-19810T>G)
c.-99+30940T>G (n.-99+30940T>G)
n.1336T>G
n.1377T>G
dbSNP
17g.43094331A>GCA500233582BRCA1n.1264T>C
c.1200T>C (p.Asp400=)
c.1074T>C (p.Asp358=)
c.1197T>C (p.Asp399=)
c.1122T>C (p.Asp374=)
c.784+413T>C (n.784+413T>C)
c.646+413T>C (n.646+413T>C)
c.312T>C (p.Asp104=)
c.1077T>C (p.Asp359=)
c.1059T>C (p.Asp353=)
c.664+413T>C (n.664+413T>C)
c.706+413T>C (n.706+413T>C)
c.*1208T>C (n.*1208T>C)
c.670+1515T>C (n.670+1515T>C)
c.551T>C
c.*983T>C (n.*983T>C)
c.787+413T>C (n.787+413T>C)
c.797T>C
c.409+413T>C (n.409+413T>C)
c.412+413T>C (n.412+413T>C)
c.*1136T>C (n.*1136T>C)
c.5-30380T>C (n.5-30380T>C)
c.-43-19810T>C (n.-43-19810T>C)
c.-99+30940T>C (n.-99+30940T>C)
n.1336T>C
n.1377T>C
ClinVar dbSNP
17g.43094331A>TCA10599650BRCA1n.1264T>A
c.1200T>A (p.Asp400Glu)
c.1074T>A (p.Asp358Glu)
c.1197T>A (p.Asp399Glu)
c.1122T>A (p.Asp374Glu)
c.784+413T>A (n.784+413T>A)
c.646+413T>A (n.646+413T>A)
c.312T>A (p.Asp104Glu)
c.1077T>A (p.Asp359Glu)
c.1059T>A (p.Asp353Glu)
c.664+413T>A (n.664+413T>A)
c.706+413T>A (n.706+413T>A)
c.*1208T>A (n.*1208T>A)
c.670+1515T>A (n.670+1515T>A)
c.551T>A
c.*983T>A (n.*983T>A)
c.787+413T>A (n.787+413T>A)
c.797T>A
c.409+413T>A (n.409+413T>A)
c.412+413T>A (n.412+413T>A)
c.*1136T>A (n.*1136T>A)
c.5-30380T>A (n.5-30380T>A)
c.-43-19810T>A (n.-43-19810T>A)
c.-99+30940T>A (n.-99+30940T>A)
n.1336T>A
n.1377T>A
dbSNP
17g.43094332T>ACA10599651BRCA1n.1263A>T
c.1199A>T (p.Asp400Val)
c.1073A>T (p.Asp358Val)
c.1196A>T (p.Asp399Val)
c.1121A>T (p.Asp374Val)
c.784+412A>T (n.784+412A>T)
c.646+412A>T (n.646+412A>T)
c.311A>T (p.Asp104Val)
c.1076A>T (p.Asp359Val)
c.1058A>T (p.Asp353Val)
c.664+412A>T (n.664+412A>T)
c.706+412A>T (n.706+412A>T)
c.*1207A>T (n.*1207A>T)
c.670+1514A>T (n.670+1514A>T)
c.550A>T
c.*982A>T (n.*982A>T)
c.787+412A>T (n.787+412A>T)
c.796A>T
c.409+412A>T (n.409+412A>T)
c.412+412A>T (n.412+412A>T)
c.*1135A>T (n.*1135A>T)
c.5-30381A>T (n.5-30381A>T)
c.-43-19811A>T (n.-43-19811A>T)
c.-99+30939A>T (n.-99+30939A>T)
n.1335A>T
n.1376A>T
ClinVar dbSNP
17g.43094332T>CCA10599652BRCA1n.1263A>G
c.1199A>G (p.Asp400Gly)
c.1073A>G (p.Asp358Gly)
c.1196A>G (p.Asp399Gly)
c.1121A>G (p.Asp374Gly)
c.784+412A>G (n.784+412A>G)
c.646+412A>G (n.646+412A>G)
c.311A>G (p.Asp104Gly)
c.1076A>G (p.Asp359Gly)
c.1058A>G (p.Asp353Gly)
c.664+412A>G (n.664+412A>G)
c.706+412A>G (n.706+412A>G)
c.*1207A>G (n.*1207A>G)
c.670+1514A>G (n.670+1514A>G)
c.550A>G
c.*982A>G (n.*982A>G)
c.787+412A>G (n.787+412A>G)
c.796A>G
c.409+412A>G (n.409+412A>G)
c.412+412A>G (n.412+412A>G)
c.*1135A>G (n.*1135A>G)
c.5-30381A>G (n.5-30381A>G)
c.-43-19811A>G (n.-43-19811A>G)
c.-99+30939A>G (n.-99+30939A>G)
n.1335A>G
n.1376A>G
ClinVar dbSNP gnomAD v4
17g.43094332T>GCA10599653BRCA1n.1263A>C
c.1199A>C (p.Asp400Ala)
c.1073A>C (p.Asp358Ala)
c.1196A>C (p.Asp399Ala)
c.1121A>C (p.Asp374Ala)
c.784+412A>C (n.784+412A>C)
c.646+412A>C (n.646+412A>C)
c.311A>C (p.Asp104Ala)
c.1076A>C (p.Asp359Ala)
c.1058A>C (p.Asp353Ala)
c.664+412A>C (n.664+412A>C)
c.706+412A>C (n.706+412A>C)
c.*1207A>C (n.*1207A>C)
c.670+1514A>C (n.670+1514A>C)
c.550A>C
c.*982A>C (n.*982A>C)
c.787+412A>C (n.787+412A>C)
c.796A>C
c.409+412A>C (n.409+412A>C)
c.412+412A>C (n.412+412A>C)
c.*1135A>C (n.*1135A>C)
c.5-30381A>C (n.5-30381A>C)
c.-43-19811A>C (n.-43-19811A>C)
c.-99+30939A>C (n.-99+30939A>C)
n.1335A>C
n.1376A>C
dbSNP
17g.43094332T=CA2260784835BRCA1n.1263A=
c.1199A= (p.Asp400=)
c.1073A= (p.Asp358=)
c.1196A= (p.Asp399=)
c.1121A= (p.Asp374=)
c.784+412A= (n.784+412A=)
c.646+412A= (n.646+412A=)
c.311A= (p.Asp104=)
c.1076A= (p.Asp359=)
c.1058A= (p.Asp353=)
c.664+412A= (n.664+412A=)
c.706+412A= (n.706+412A=)
c.*1207A= (n.*1207A=)
c.670+1514A= (n.670+1514A=)
c.550A=
c.*982A= (n.*982A=)
c.787+412A= (n.787+412A=)
c.796A=
c.409+412A= (n.409+412A=)
c.412+412A= (n.412+412A=)
c.*1135A= (n.*1135A=)
c.5-30381A= (n.5-30381A=)
c.-43-19811A= (n.-43-19811A=)
c.-99+30939A= (n.-99+30939A=)
n.1335A=
n.1376A=
17g.43094333C>ACA10599654BRCA1n.1262G>T
c.1198G>T (p.Asp400Tyr)
c.1072G>T (p.Asp358Tyr)
c.1195G>T (p.Asp399Tyr)
c.1120G>T (p.Asp374Tyr)
c.784+411G>T (n.784+411G>T)
c.646+411G>T (n.646+411G>T)
c.310G>T (p.Asp104Tyr)
c.1075G>T (p.Asp359Tyr)
c.1057G>T (p.Asp353Tyr)
c.664+411G>T (n.664+411G>T)
c.706+411G>T (n.706+411G>T)
c.*1206G>T (n.*1206G>T)
c.670+1513G>T (n.670+1513G>T)
c.549G>T
c.*981G>T (n.*981G>T)
c.787+411G>T (n.787+411G>T)
c.795G>T
c.409+411G>T (n.409+411G>T)
c.412+411G>T (n.412+411G>T)
c.*1134G>T (n.*1134G>T)
c.5-30382G>T (n.5-30382G>T)
c.-43-19812G>T (n.-43-19812G>T)
c.-99+30938G>T (n.-99+30938G>T)
n.1334G>T
n.1375G>T
dbSNP
17g.43094333C=CA2260784836BRCA1n.1262G=
c.1198G= (p.Asp400=)
c.1072G= (p.Asp358=)
c.1195G= (p.Asp399=)
c.1120G= (p.Asp374=)
c.784+411G= (n.784+411G=)
c.646+411G= (n.646+411G=)
c.310G= (p.Asp104=)
c.1075G= (p.Asp359=)
c.1057G= (p.Asp353=)
c.664+411G= (n.664+411G=)
c.706+411G= (n.706+411G=)
c.*1206G= (n.*1206G=)
c.670+1513G= (n.670+1513G=)
c.549G=
c.*981G= (n.*981G=)
c.787+411G= (n.787+411G=)
c.795G=
c.409+411G= (n.409+411G=)
c.412+411G= (n.412+411G=)
c.*1134G= (n.*1134G=)
c.5-30382G= (n.5-30382G=)
c.-43-19812G= (n.-43-19812G=)
c.-99+30938G= (n.-99+30938G=)
n.1334G=
n.1375G=
17g.43094333C>GCA10599655BRCA1n.1262G>C
c.1198G>C (p.Asp400His)
c.1072G>C (p.Asp358His)
c.1195G>C (p.Asp399His)
c.1120G>C (p.Asp374His)
c.784+411G>C (n.784+411G>C)
c.646+411G>C (n.646+411G>C)
c.310G>C (p.Asp104His)
c.1075G>C (p.Asp359His)
c.1057G>C (p.Asp353His)
c.664+411G>C (n.664+411G>C)
c.706+411G>C (n.706+411G>C)
c.*1206G>C (n.*1206G>C)
c.670+1513G>C (n.670+1513G>C)
c.549G>C
c.*981G>C (n.*981G>C)
c.787+411G>C (n.787+411G>C)
c.795G>C
c.409+411G>C (n.409+411G>C)
c.412+411G>C (n.412+411G>C)
c.*1134G>C (n.*1134G>C)
c.5-30382G>C (n.5-30382G>C)
c.-43-19812G>C (n.-43-19812G>C)
c.-99+30938G>C (n.-99+30938G>C)
n.1334G>C
n.1375G>C
dbSNP
17g.43094333C>TCA10599656BRCA1n.1262G>A
c.1198G>A (p.Asp400Asn)
c.1072G>A (p.Asp358Asn)
c.1195G>A (p.Asp399Asn)
c.1120G>A (p.Asp374Asn)
c.784+411G>A (n.784+411G>A)
c.646+411G>A (n.646+411G>A)
c.310G>A (p.Asp104Asn)
c.1075G>A (p.Asp359Asn)
c.1057G>A (p.Asp353Asn)
c.664+411G>A (n.664+411G>A)
c.706+411G>A (n.706+411G>A)
c.*1206G>A (n.*1206G>A)
c.670+1513G>A (n.670+1513G>A)
c.549G>A
c.*981G>A (n.*981G>A)
c.787+411G>A (n.787+411G>A)
c.795G>A
c.409+411G>A (n.409+411G>A)
c.412+411G>A (n.412+411G>A)
c.*1134G>A (n.*1134G>A)
c.5-30382G>A (n.5-30382G>A)
c.-43-19812G>A (n.-43-19812G>A)
c.-99+30938G>A (n.-99+30938G>A)
n.1334G>A
n.1375G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43094334A=CA2260784837BRCA1n.1261T=
c.1197T= (p.His399=)
c.1071T= (p.His357=)
c.1194T= (p.His398=)
c.1119T= (p.His373=)
c.784+410T= (n.784+410T=)
c.646+410T= (n.646+410T=)
c.309T= (p.His103=)
c.1074T= (p.His358=)
c.1056T= (p.His352=)
c.664+410T= (n.664+410T=)
c.706+410T= (n.706+410T=)
c.*1205T= (n.*1205T=)
c.670+1512T= (n.670+1512T=)
c.548T=
c.*980T= (n.*980T=)
c.787+410T= (n.787+410T=)
c.794T=
c.409+410T= (n.409+410T=)
c.412+410T= (n.412+410T=)
c.*1133T= (n.*1133T=)
c.5-30383T= (n.5-30383T=)
c.-43-19813T= (n.-43-19813T=)
c.-99+30937T= (n.-99+30937T=)
n.1333T=
n.1374T=
17g.43094334A>CCA10599657BRCA1n.1261T>G
c.1197T>G (p.His399Gln)
c.1071T>G (p.His357Gln)
c.1194T>G (p.His398Gln)
c.1119T>G (p.His373Gln)
c.784+410T>G (n.784+410T>G)
c.646+410T>G (n.646+410T>G)
c.309T>G (p.His103Gln)
c.1074T>G (p.His358Gln)
c.1056T>G (p.His352Gln)
c.664+410T>G (n.664+410T>G)
c.706+410T>G (n.706+410T>G)
c.*1205T>G (n.*1205T>G)
c.670+1512T>G (n.670+1512T>G)
c.548T>G
c.*980T>G (n.*980T>G)
c.787+410T>G (n.787+410T>G)
c.794T>G
c.409+410T>G (n.409+410T>G)
c.412+410T>G (n.412+410T>G)
c.*1133T>G (n.*1133T>G)
c.5-30383T>G (n.5-30383T>G)
c.-43-19813T>G (n.-43-19813T>G)
c.-99+30937T>G (n.-99+30937T>G)
n.1333T>G
n.1374T>G
dbSNP
17g.43094334A>GCA500233587BRCA1n.1261T>C
c.1197T>C (p.His399=)
c.1071T>C (p.His357=)
c.1194T>C (p.His398=)
c.1119T>C (p.His373=)
c.784+410T>C (n.784+410T>C)
c.646+410T>C (n.646+410T>C)
c.309T>C (p.His103=)
c.1074T>C (p.His358=)
c.1056T>C (p.His352=)
c.664+410T>C (n.664+410T>C)
c.706+410T>C (n.706+410T>C)
c.*1205T>C (n.*1205T>C)
c.670+1512T>C (n.670+1512T>C)
c.548T>C
c.*980T>C (n.*980T>C)
c.787+410T>C (n.787+410T>C)
c.794T>C
c.409+410T>C (n.409+410T>C)
c.412+410T>C (n.412+410T>C)
c.*1133T>C (n.*1133T>C)
c.5-30383T>C (n.5-30383T>C)
c.-43-19813T>C (n.-43-19813T>C)
c.-99+30937T>C (n.-99+30937T>C)
n.1333T>C
n.1374T>C
ClinVar dbSNP
17g.43094334A>TCA10599658BRCA1n.1261T>A
c.1197T>A (p.His399Gln)
c.1071T>A (p.His357Gln)
c.1194T>A (p.His398Gln)
c.1119T>A (p.His373Gln)
c.784+410T>A (n.784+410T>A)
c.646+410T>A (n.646+410T>A)
c.309T>A (p.His103Gln)
c.1074T>A (p.His358Gln)
c.1056T>A (p.His352Gln)
c.664+410T>A (n.664+410T>A)
c.706+410T>A (n.706+410T>A)
c.*1205T>A (n.*1205T>A)
c.670+1512T>A (n.670+1512T>A)
c.548T>A
c.*980T>A (n.*980T>A)
c.787+410T>A (n.787+410T>A)
c.794T>A
c.409+410T>A (n.409+410T>A)
c.412+410T>A (n.412+410T>A)
c.*1133T>A (n.*1133T>A)
c.5-30383T>A (n.5-30383T>A)
c.-43-19813T>A (n.-43-19813T>A)
c.-99+30937T>A (n.-99+30937T>A)
n.1333T>A
n.1374T>A
dbSNP
17g.43094335T>ACA10599659BRCA1n.1260A>T
c.1196A>T (p.His399Leu)
c.1070A>T (p.His357Leu)
c.1193A>T (p.His398Leu)
c.1118A>T (p.His373Leu)
c.784+409A>T (n.784+409A>T)
c.646+409A>T (n.646+409A>T)
c.308A>T (p.His103Leu)
c.1073A>T (p.His358Leu)
c.1055A>T (p.His352Leu)
c.664+409A>T (n.664+409A>T)
c.706+409A>T (n.706+409A>T)
c.*1204A>T (n.*1204A>T)
c.670+1511A>T (n.670+1511A>T)
c.547A>T
c.*979A>T (n.*979A>T)
c.787+409A>T (n.787+409A>T)
c.793A>T
c.409+409A>T (n.409+409A>T)
c.412+409A>T (n.412+409A>T)
c.*1132A>T (n.*1132A>T)
c.5-30384A>T (n.5-30384A>T)
c.-43-19814A>T (n.-43-19814A>T)
c.-99+30936A>T (n.-99+30936A>T)
n.1332A>T
n.1373A>T
dbSNP
17g.43094335T>CCA000787BRCA1n.1260A>G
c.1196A>G (p.His399Arg)
c.1070A>G (p.His357Arg)
c.1193A>G (p.His398Arg)
c.1118A>G (p.His373Arg)
c.784+409A>G (n.784+409A>G)
c.646+409A>G (n.646+409A>G)
c.308A>G (p.His103Arg)
c.1073A>G (p.His358Arg)
c.1055A>G (p.His352Arg)
c.664+409A>G (n.664+409A>G)
c.706+409A>G (n.706+409A>G)
c.*1204A>G (n.*1204A>G)
c.670+1511A>G (n.670+1511A>G)
c.547A>G
c.*979A>G (n.*979A>G)
c.787+409A>G (n.787+409A>G)
c.793A>G
c.409+409A>G (n.409+409A>G)
c.412+409A>G (n.412+409A>G)
c.*1132A>G (n.*1132A>G)
c.5-30384A>G (n.5-30384A>G)
c.-43-19814A>G (n.-43-19814A>G)
c.-99+30936A>G (n.-99+30936A>G)
n.1332A>G
n.1373A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43094335T>GCA10599660BRCA1n.1260A>C
c.1196A>C (p.His399Pro)
c.1070A>C (p.His357Pro)
c.1193A>C (p.His398Pro)
c.1118A>C (p.His373Pro)
c.784+409A>C (n.784+409A>C)
c.646+409A>C (n.646+409A>C)
c.308A>C (p.His103Pro)
c.1073A>C (p.His358Pro)
c.1055A>C (p.His352Pro)
c.664+409A>C (n.664+409A>C)
c.706+409A>C (n.706+409A>C)
c.*1204A>C (n.*1204A>C)
c.670+1511A>C (n.670+1511A>C)
c.547A>C
c.*979A>C (n.*979A>C)
c.787+409A>C (n.787+409A>C)
c.793A>C
c.409+409A>C (n.409+409A>C)
c.412+409A>C (n.412+409A>C)
c.*1132A>C (n.*1132A>C)
c.5-30384A>C (n.5-30384A>C)
c.-43-19814A>C (n.-43-19814A>C)
c.-99+30936A>C (n.-99+30936A>C)
n.1332A>C
n.1373A>C
17g.43094335T=CA2260784838BRCA1n.1260A=
c.1196A= (p.His399=)
c.1070A= (p.His357=)
c.1193A= (p.His398=)
c.1118A= (p.His373=)
c.784+409A= (n.784+409A=)
c.646+409A= (n.646+409A=)
c.308A= (p.His103=)
c.1073A= (p.His358=)
c.1055A= (p.His352=)
c.664+409A= (n.664+409A=)
c.706+409A= (n.706+409A=)
c.*1204A= (n.*1204A=)
c.670+1511A= (n.670+1511A=)
c.547A=
c.*979A= (n.*979A=)
c.787+409A= (n.787+409A=)
c.793A=
c.409+409A= (n.409+409A=)
c.412+409A= (n.412+409A=)
c.*1132A= (n.*1132A=)
c.5-30384A= (n.5-30384A=)
c.-43-19814A= (n.-43-19814A=)
c.-99+30936A= (n.-99+30936A=)
n.1332A=
n.1373A=
17g.43094337_43094338delCA2573105992BRCA1n.1259_1260del
c.1195_1196del (p.His399Ter)
c.1069_1070del (p.His357Ter)
c.1192_1193del (p.His398Ter)
c.1117_1118del (p.His373Ter)
c.784+408_784+409del (n.784+408_784+409del)
c.646+408_646+409del (n.646+408_646+409del)
c.307_308del (p.His103Ter)
c.1072_1073del (p.His358Ter)
c.1054_1055del (p.His352Ter)
c.664+408_664+409del (n.664+408_664+409del)
c.706+408_706+409del (n.706+408_706+409del)
c.*1203_*1204del (n.*1203_*1204del)
c.670+1510_670+1511del (n.670+1510_670+1511del)
c.546_547del
c.*978_*979del (n.*978_*979del)
c.787+408_787+409del (n.787+408_787+409del)
c.792_793del
c.409+408_409+409del (n.409+408_409+409del)
c.412+408_412+409del (n.412+408_412+409del)
c.*1131_*1132del (n.*1131_*1132del)
c.5-30385_5-30384del (n.5-30385_5-30384del)
c.-43-19815_-43-19814del (n.-43-19815_-43-19814del)
c.-99+30935_-99+30936del (n.-99+30935_-99+30936del)
n.1331_1332del
n.1372_1373del
dbSNP
17g.43094336G>ACA10599661BRCA1n.1259C>T
c.1195C>T (p.His399Tyr)
c.1069C>T (p.His357Tyr)
c.1192C>T (p.His398Tyr)
c.1117C>T (p.His373Tyr)
c.784+408C>T (n.784+408C>T)
c.646+408C>T (n.646+408C>T)
c.307C>T (p.His103Tyr)
c.1072C>T (p.His358Tyr)
c.1054C>T (p.His352Tyr)
c.664+408C>T (n.664+408C>T)
c.706+408C>T (n.706+408C>T)
c.*1203C>T (n.*1203C>T)
c.670+1510C>T (n.670+1510C>T)
c.546C>T
c.*978C>T (n.*978C>T)
c.787+408C>T (n.787+408C>T)
c.792C>T
c.409+408C>T (n.409+408C>T)
c.412+408C>T (n.412+408C>T)
c.*1131C>T (n.*1131C>T)
c.5-30385C>T (n.5-30385C>T)
c.-43-19815C>T (n.-43-19815C>T)
c.-99+30935C>T (n.-99+30935C>T)
n.1331C>T
n.1372C>T
ClinVar dbSNP
17g.43094336G>CCA10599662BRCA1n.1259C>G
c.1195C>G (p.His399Asp)
c.1069C>G (p.His357Asp)
c.1192C>G (p.His398Asp)
c.1117C>G (p.His373Asp)
c.784+408C>G (n.784+408C>G)
c.646+408C>G (n.646+408C>G)
c.307C>G (p.His103Asp)
c.1072C>G (p.His358Asp)
c.1054C>G (p.His352Asp)
c.664+408C>G (n.664+408C>G)
c.706+408C>G (n.706+408C>G)
c.*1203C>G (n.*1203C>G)
c.670+1510C>G (n.670+1510C>G)
c.546C>G
c.*978C>G (n.*978C>G)
c.787+408C>G (n.787+408C>G)
c.792C>G
c.409+408C>G (n.409+408C>G)
c.412+408C>G (n.412+408C>G)
c.*1131C>G (n.*1131C>G)
c.5-30385C>G (n.5-30385C>G)
c.-43-19815C>G (n.-43-19815C>G)
c.-99+30935C>G (n.-99+30935C>G)
n.1331C>G
n.1372C>G
dbSNP
17g.43094336G=CA2260784839BRCA1n.1259C=
c.1195C= (p.His399=)
c.1069C= (p.His357=)
c.1192C= (p.His398=)
c.1117C= (p.His373=)
c.784+408C= (n.784+408C=)
c.646+408C= (n.646+408C=)
c.307C= (p.His103=)
c.1072C= (p.His358=)
c.1054C= (p.His352=)
c.664+408C= (n.664+408C=)
c.706+408C= (n.706+408C=)
c.*1203C= (n.*1203C=)
c.670+1510C= (n.670+1510C=)
c.546C=
c.*978C= (n.*978C=)
c.787+408C= (n.787+408C=)
c.792C=
c.409+408C= (n.409+408C=)
c.412+408C= (n.412+408C=)
c.*1131C= (n.*1131C=)
c.5-30385C= (n.5-30385C=)
c.-43-19815C= (n.-43-19815C=)
c.-99+30935C= (n.-99+30935C=)
n.1331C=
n.1372C=
17g.43094336G>TCA10599663BRCA1n.1259C>A
c.1195C>A (p.His399Asn)
c.1069C>A (p.His357Asn)
c.1192C>A (p.His398Asn)
c.1117C>A (p.His373Asn)
c.784+408C>A (n.784+408C>A)
c.646+408C>A (n.646+408C>A)
c.307C>A (p.His103Asn)
c.1072C>A (p.His358Asn)
c.1054C>A (p.His352Asn)
c.664+408C>A (n.664+408C>A)
c.706+408C>A (n.706+408C>A)
c.*1203C>A (n.*1203C>A)
c.670+1510C>A (n.670+1510C>A)
c.546C>A
c.*978C>A (n.*978C>A)
c.787+408C>A (n.787+408C>A)
c.792C>A
c.409+408C>A (n.409+408C>A)
c.412+408C>A (n.412+408C>A)
c.*1131C>A (n.*1131C>A)
c.5-30385C>A (n.5-30385C>A)
c.-43-19815C>A (n.-43-19815C>A)
c.-99+30935C>A (n.-99+30935C>A)
n.1331C>A
n.1372C>A
17g.43094337T>ACA500233593BRCA1n.1258A>T
c.1194A>T (p.Ser398=)
c.1068A>T (p.Ser356=)
c.1191A>T (p.Ser397=)
c.1116A>T (p.Ser372=)
c.784+407A>T (n.784+407A>T)
c.646+407A>T (n.646+407A>T)
c.306A>T (p.Ser102=)
c.1071A>T (p.Ser357=)
c.1053A>T (p.Ser351=)
c.664+407A>T (n.664+407A>T)
c.706+407A>T (n.706+407A>T)
c.*1202A>T (n.*1202A>T)
c.670+1509A>T (n.670+1509A>T)
c.545A>T
c.*977A>T (n.*977A>T)
c.787+407A>T (n.787+407A>T)
c.791A>T
c.409+407A>T (n.409+407A>T)
c.412+407A>T (n.412+407A>T)
c.*1130A>T (n.*1130A>T)
c.5-30386A>T (n.5-30386A>T)
c.-43-19816A>T (n.-43-19816A>T)
c.-99+30934A>T (n.-99+30934A>T)
n.1330A>T
n.1371A>T
dbSNP
17g.43094337T>CCA500233590BRCA1n.1258A>G
c.1194A>G (p.Ser398=)
c.1068A>G (p.Ser356=)
c.1191A>G (p.Ser397=)
c.1116A>G (p.Ser372=)
c.784+407A>G (n.784+407A>G)
c.646+407A>G (n.646+407A>G)
c.306A>G (p.Ser102=)
c.1071A>G (p.Ser357=)
c.1053A>G (p.Ser351=)
c.664+407A>G (n.664+407A>G)
c.706+407A>G (n.706+407A>G)
c.*1202A>G (n.*1202A>G)
c.670+1509A>G (n.670+1509A>G)
c.545A>G
c.*977A>G (n.*977A>G)
c.787+407A>G (n.787+407A>G)
c.791A>G
c.409+407A>G (n.409+407A>G)
c.412+407A>G (n.412+407A>G)
c.*1130A>G (n.*1130A>G)
c.5-30386A>G (n.5-30386A>G)
c.-43-19816A>G (n.-43-19816A>G)
c.-99+30934A>G (n.-99+30934A>G)
n.1330A>G
n.1371A>G
dbSNP
17g.43094337T>GCA500233592BRCA1n.1258A>C
c.1194A>C (p.Ser398=)
c.1068A>C (p.Ser356=)
c.1191A>C (p.Ser397=)
c.1116A>C (p.Ser372=)
c.784+407A>C (n.784+407A>C)
c.646+407A>C (n.646+407A>C)
c.306A>C (p.Ser102=)
c.1071A>C (p.Ser357=)
c.1053A>C (p.Ser351=)
c.664+407A>C (n.664+407A>C)
c.706+407A>C (n.706+407A>C)
c.*1202A>C (n.*1202A>C)
c.670+1509A>C (n.670+1509A>C)
c.545A>C
c.*977A>C (n.*977A>C)
c.787+407A>C (n.787+407A>C)
c.791A>C
c.409+407A>C (n.409+407A>C)
c.412+407A>C (n.412+407A>C)
c.*1130A>C (n.*1130A>C)
c.5-30386A>C (n.5-30386A>C)
c.-43-19816A>C (n.-43-19816A>C)
c.-99+30934A>C (n.-99+30934A>C)
n.1330A>C
n.1371A>C
dbSNP

Number of alleles fetched