Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43093751_43094887delCA10602596BRCA1c.671-26_1781del
c.530-26_1640del
c.671-26_787+994del
n.807-26_1917del
n.848-26_1958del
c.670+960_670+2096del (p.=)
n.22-26_1132del
c.*454-26_*1564del
c.593-26_1703del
c.668-26_784+994del
n.293-26_409+994del
n.296-26_412+994del
c.530-26_646+994del
c.4+30296_5-29799del (p.=)
c.-43-20365_-43-19229del (p.=)
c.-99+30385_-99+31521del (p.=)
c.548-26_1658del
 ClinVar
17g.43094314_43094356delCA000780BRCA1c.1177_1219del (p.Leu393ProfsTer3)
c.1036_1078del (p.Leu346ProfsTer3)
c.787+390_787+432del (p.=)
n.1313_1355del
n.1354_1396del
c.670+1492_670+1534del (p.=)
n.528_570del
c.*960_*1002del (p.=)
n.774_816del
c.1099_1141del (p.Leu367ProfsTer3)
c.784+390_784+432del (p.=)
n.409+390_409+432del (p.=)
n.412+390_412+432del (p.=)
c.*1113_*1155del (p.=)
c.646+390_646+432del (p.=)
c.289_331del (p.Leu97ProfsTer3)
c.5-30403_5-30361del (p.=)
c.-43-19833_-43-19791del (p.=)
c.-99+30917_-99+30959del (p.=)
c.1054_1096del (p.Leu352ProfsTer3)
 ClinVar dbSNP
17g.43094313_43094356delCA000781BRCA1c.1175_1218del (p.Leu392ArgfsTer5)
c.1034_1077del (p.Leu345ArgfsTer5)
c.787+388_787+431del (p.=)
n.1311_1354del
n.1352_1395del
c.670+1490_670+1533del (p.=)
n.526_569del
c.*958_*1001del (p.=)
n.772_815del
c.1097_1140del (p.Leu366ArgfsTer5)
c.784+388_784+431del (p.=)
n.409+388_409+431del (p.=)
n.412+388_412+431del (p.=)
c.*1111_*1154del (p.=)
c.646+388_646+431del (p.=)
c.287_330del (p.Leu96ArgfsTer5)
c.5-30405_5-30362del (p.=)
c.-43-19835_-43-19792del (p.=)
c.-99+30915_-99+30958del (p.=)
c.1052_1095del (p.Leu351ArgfsTer5)
 ClinVar dbSNP
17g.43094315_43094356delCA000779BRCA1c.1175_1216del (p.Leu392_Asn406delinsHis)
c.1034_1075del (p.Leu345_Asn359delinsHis)
c.787+388_787+429del (p.=)
n.1311_1352del
n.1352_1393del
c.670+1490_670+1531del (p.=)
n.526_567del
c.*958_*999del (p.=)
n.772_813del
c.1097_1138del (p.Leu366_Asn380delinsHis)
c.784+388_784+429del (p.=)
n.409+388_409+429del (p.=)
n.412+388_412+429del (p.=)
c.*1111_*1152del (p.=)
c.646+388_646+429del (p.=)
c.287_328del (p.Leu96_Asn110delinsHis)
c.5-30405_5-30364del (p.=)
c.-43-19835_-43-19794del (p.=)
c.-99+30915_-99+30956del (p.=)
c.1052_1093del (p.Leu351_Asn365delinsHis)
 ClinVar dbSNP
17g.43094316_43094355delCA658824533BRCA1c.1176_1215del (p.Leu393MetfsTer4)
c.1035_1074del (p.Leu346MetfsTer4)
c.787+389_787+428del (p.=)
n.1312_1351del
n.1353_1392del
c.670+1491_670+1530del (p.=)
n.527_566del
c.*959_*998del (p.=)
n.773_812del
c.1098_1137del (p.Leu367MetfsTer4)
c.784+389_784+428del (p.=)
n.409+389_409+428del (p.=)
n.412+389_412+428del (p.=)
c.*1112_*1151del (p.=)
c.646+389_646+428del (p.=)
c.288_327del (p.Leu97MetfsTer4)
c.5-30404_5-30365del (p.=)
c.-43-19834_-43-19795del (p.=)
c.-99+30916_-99+30955del (p.=)
c.1053_1092del (p.Leu352MetfsTer4)
 ClinVar dbSNP
17g.43094316_43094356delCA000778BRCA1c.1175_1215del (p.Leu392GlnfsTer6)
c.1034_1074del (p.Leu345GlnfsTer6)
c.787+388_787+428del (p.=)
n.1311_1351del
n.1352_1392del
c.670+1490_670+1530del (p.=)
n.526_566del
c.*958_*998del (p.=)
n.772_812del
c.1097_1137del (p.Leu366GlnfsTer6)
c.784+388_784+428del (p.=)
n.409+388_409+428del (p.=)
n.412+388_412+428del (p.=)
c.*1111_*1151del (p.=)
c.646+388_646+428del (p.=)
c.287_327del (p.Leu96GlnfsTer6)
c.5-30405_5-30365del (p.=)
c.-43-19835_-43-19795del (p.=)
c.-99+30915_-99+30955del (p.=)
c.1052_1092del (p.Leu351GlnfsTer6)
 ClinVar dbSNP
17g.43094318_43094357delCA000776BRCA1c.1175_1214del (p.Leu392GlnfsTer5)
c.1034_1073del (p.Leu345GlnfsTer5)
c.787+388_787+427del (p.=)
n.1311_1350del
n.1352_1391del
c.670+1490_670+1529del (p.=)
n.526_565del
c.*958_*997del (p.=)
n.772_811del
c.1097_1136del (p.Leu366GlnfsTer5)
c.784+388_784+427del (p.=)
n.409+388_409+427del (p.=)
n.412+388_412+427del (p.=)
c.*1111_*1150del (p.=)
c.646+388_646+427del (p.=)
c.287_326del (p.Leu96GlnfsTer5)
c.5-30405_5-30366del (p.=)
c.-43-19835_-43-19796del (p.=)
c.-99+30915_-99+30954del (p.=)
c.1052_1091del (p.Leu351GlnfsTer5)
 ClinVar dbSNP ExAC gnomAD
17g.43094327_43094366delCA1139532220BRCA1c.1168_1207del (p.Asp390LeufsTer7)
c.1027_1066del (p.Asp343LeufsTer7)
c.787+381_787+420del (p.=)
n.1304_1343del
n.1345_1384del
c.670+1483_670+1522del (p.=)
n.519_558del
c.*951_*990del (p.=)
n.765_804del
c.1090_1129del (p.Asp364LeufsTer7)
c.784+381_784+420del (p.=)
n.409+381_409+420del (p.=)
n.412+381_412+420del (p.=)
c.*1104_*1143del (p.=)
c.646+381_646+420del (p.=)
c.280_319del (p.Asp94LeufsTer7)
c.5-30412_5-30373del (p.=)
c.-43-19842_-43-19803del (p.=)
c.-99+30908_-99+30947del (p.=)
c.1045_1084del (p.Asp349LeufsTer7)
17g.43094325C>ACA10599638BRCA1c.1206G>T (p.Glu402Asp)
c.1065G>T (p.Glu355Asp)
c.787+419G>T (p.=)
n.1342G>T
n.1383G>T
c.670+1521G>T (p.=)
n.557G>T
c.*989G>T (p.=)
n.803G>T
c.1128G>T (p.Glu376Asp)
c.784+419G>T (p.=)
n.409+419G>T (p.=)
n.412+419G>T (p.=)
c.*1142G>T (p.=)
c.646+419G>T (p.=)
c.318G>T (p.Glu106Asp)
c.5-30374G>T (p.=)
c.-43-19804G>T (p.=)
c.-99+30946G>T (p.=)
c.1083G>T (p.Glu361Asp)
 gnomAD
17g.43094325C>GCA10599639BRCA1c.1206G>C (p.Glu402Asp)
c.1065G>C (p.Glu355Asp)
c.787+419G>C (p.=)
n.1342G>C
n.1383G>C
c.670+1521G>C (p.=)
n.557G>C
c.*989G>C (p.=)
n.803G>C
c.1128G>C (p.Glu376Asp)
c.784+419G>C (p.=)
n.409+419G>C (p.=)
n.412+419G>C (p.=)
c.*1142G>C (p.=)
c.646+419G>C (p.=)
c.318G>C (p.Glu106Asp)
c.5-30374G>C (p.=)
c.-43-19804G>C (p.=)
c.-99+30946G>C (p.=)
c.1083G>C (p.Glu361Asp)
17g.43094325C>TCA500233570BRCA1c.1206G>A (p.Glu402=)
c.1065G>A (p.Glu355=)
c.787+419G>A (p.=)
n.1342G>A
n.1383G>A
c.670+1521G>A (p.=)
n.557G>A
c.*989G>A (p.=)
n.803G>A
c.1128G>A (p.Glu376=)
c.784+419G>A (p.=)
n.409+419G>A (p.=)
n.412+419G>A (p.=)
c.*1142G>A (p.=)
c.646+419G>A (p.=)
c.318G>A (p.Glu106=)
c.5-30374G>A (p.=)
c.-43-19804G>A (p.=)
c.-99+30946G>A (p.=)
c.1083G>A (p.Glu361=)
17g.43094325_43094331delinsACCTAACAGTTCATGTGAGCA658653707BRCA1c.1200_1206delinsCTCACATGAACTGTTAGGT (p.Gly401_Glu402delinsSerHisGluLeuLeuGly)
c.1059_1065delinsCTCACATGAACTGTTAGGT (p.Gly354_Glu355delinsSerHisGluLeuLeuGly)
c.787+413_787+419delinsCTCACATGAACTGTTAGGT (p.=)
n.1336_1342delinsCTCACATGAACTGTTAGGT
n.1377_1383delinsCTCACATGAACTGTTAGGT
c.670+1515_670+1521delinsCTCACATGAACTGTTAGGT (p.=)
n.551_557delinsCTCACATGAACTGTTAGGT
c.*983_*989delinsCTCACATGAACTGTTAGGT (p.=)
n.797_803delinsCTCACATGAACTGTTAGGT
c.1122_1128delinsCTCACATGAACTGTTAGGT (p.Gly375_Glu376delinsSerHisGluLeuLeuGly)
c.784+413_784+419delinsCTCACATGAACTGTTAGGT (p.=)
n.409+413_409+419delinsCTCACATGAACTGTTAGGT (p.=)
n.412+413_412+419delinsCTCACATGAACTGTTAGGT (p.=)
c.*1136_*1142delinsCTCACATGAACTGTTAGGT (p.=)
c.646+413_646+419delinsCTCACATGAACTGTTAGGT (p.=)
c.312_318delinsCTCACATGAACTGTTAGGT (p.Gly105_Glu106delinsSerHisGluLeuLeuGly)
c.5-30380_5-30374delinsCTCACATGAACTGTTAGGT (p.=)
c.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT (p.=)
c.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT (p.=)
c.1077_1083delinsCTCACATGAACTGTTAGGT (p.Gly360_Glu361delinsSerHisGluLeuLeuGly)
 ClinVar dbSNP
17g.43094326T>ACA10599640BRCA1c.1205A>T (p.Glu402Val)
c.1064A>T (p.Glu355Val)
c.787+418A>T (p.=)
n.1341A>T
n.1382A>T
c.670+1520A>T (p.=)
n.556A>T
c.*988A>T (p.=)
n.802A>T
c.1127A>T (p.Glu376Val)
c.784+418A>T (p.=)
n.409+418A>T (p.=)
n.412+418A>T (p.=)
c.*1141A>T (p.=)
c.646+418A>T (p.=)
c.317A>T (p.Glu106Val)
c.5-30375A>T (p.=)
c.-43-19805A>T (p.=)
c.-99+30945A>T (p.=)
c.1082A>T (p.Glu361Val)
 ClinVar
17g.43094326T>CCA10599641BRCA1c.1205A>G (p.Glu402Gly)
c.1064A>G (p.Glu355Gly)
c.787+418A>G (p.=)
n.1341A>G
n.1382A>G
c.670+1520A>G (p.=)
n.556A>G
c.*988A>G (p.=)
n.802A>G
c.1127A>G (p.Glu376Gly)
c.784+418A>G (p.=)
n.409+418A>G (p.=)
n.412+418A>G (p.=)
c.*1141A>G (p.=)
c.646+418A>G (p.=)
c.317A>G (p.Glu106Gly)
c.5-30375A>G (p.=)
c.-43-19805A>G (p.=)
c.-99+30945A>G (p.=)
c.1082A>G (p.Glu361Gly)
17g.43094326T>GCA10599642BRCA1c.1205A>C (p.Glu402Ala)
c.1064A>C (p.Glu355Ala)
c.787+418A>C (p.=)
n.1341A>C
n.1382A>C
c.670+1520A>C (p.=)
n.556A>C
c.*988A>C (p.=)
n.802A>C
c.1127A>C (p.Glu376Ala)
c.784+418A>C (p.=)
n.409+418A>C (p.=)
n.412+418A>C (p.=)
c.*1141A>C (p.=)
c.646+418A>C (p.=)
c.317A>C (p.Glu106Ala)
c.5-30375A>C (p.=)
c.-43-19805A>C (p.=)
c.-99+30945A>C (p.=)
c.1082A>C (p.Glu361Ala)
17g.43094326dupCA645509518BRCA1c.1205dup (p.Ser403ValfsTer2)
c.1064dup (p.Ser356ValfsTer2)
c.787+418dup (p.=)
n.1341dup
n.1382dup
c.670+1520dup (p.=)
n.556dup
c.*988dup (p.=)
n.802dup
c.1127dup (p.Ser377ValfsTer2)
c.784+418dup (p.=)
n.409+418dup (p.=)
n.412+418dup (p.=)
c.*1141dup (p.=)
c.646+418dup (p.=)
c.317dup (p.Ser107ValfsTer2)
c.5-30375dup (p.=)
c.-43-19805dup (p.=)
c.-99+30945dup (p.=)
c.1082dup (p.Ser362ValfsTer2)
 ClinVar dbSNP
17g.43094327C>ACA000794BRCA1c.1204G>T (p.Glu402Ter)
c.1063G>T (p.Glu355Ter)
c.787+417G>T (p.=)
n.1340G>T
n.1381G>T
c.670+1519G>T (p.=)
n.555G>T
c.*987G>T (p.=)
n.801G>T
c.1126G>T (p.Glu376Ter)
c.784+417G>T (p.=)
n.409+417G>T (p.=)
n.412+417G>T (p.=)
c.*1140G>T (p.=)
c.646+417G>T (p.=)
c.316G>T (p.Glu106Ter)
c.5-30376G>T (p.=)
c.-43-19806G>T (p.=)
c.-99+30944G>T (p.=)
c.1081G>T (p.Glu361Ter)
 ClinVar dbSNP
17g.43094327C>GCA10599643BRCA1c.1204G>C (p.Glu402Gln)
c.1063G>C (p.Glu355Gln)
c.787+417G>C (p.=)
n.1340G>C
n.1381G>C
c.670+1519G>C (p.=)
n.555G>C
c.*987G>C (p.=)
n.801G>C
c.1126G>C (p.Glu376Gln)
c.784+417G>C (p.=)
n.409+417G>C (p.=)
n.412+417G>C (p.=)
c.*1140G>C (p.=)
c.646+417G>C (p.=)
c.316G>C (p.Glu106Gln)
c.5-30376G>C (p.=)
c.-43-19806G>C (p.=)
c.-99+30944G>C (p.=)
c.1081G>C (p.Glu361Gln)
17g.43094327C>TCA10599644BRCA1c.1204G>A (p.Glu402Lys)
c.1063G>A (p.Glu355Lys)
c.787+417G>A (p.=)
n.1340G>A
n.1381G>A
c.670+1519G>A (p.=)
n.555G>A
c.*987G>A (p.=)
n.801G>A
c.1126G>A (p.Glu376Lys)
c.784+417G>A (p.=)
n.409+417G>A (p.=)
n.412+417G>A (p.=)
c.*1140G>A (p.=)
c.646+417G>A (p.=)
c.316G>A (p.Glu106Lys)
c.5-30376G>A (p.=)
c.-43-19806G>A (p.=)
c.-99+30944G>A (p.=)
c.1081G>A (p.Glu361Lys)
 ClinVar COSMIC COSMIC
17g.43094330delCA000793BRCA1c.1204del (p.Glu402SerfsTer8)
c.1063del (p.Glu355SerfsTer8)
c.787+417del (p.=)
n.1340del
n.1381del
c.670+1519del (p.=)
n.555del
c.*987del (p.=)
n.801del
c.1126del (p.Glu376SerfsTer8)
c.784+417del (p.=)
n.409+417del (p.=)
n.412+417del (p.=)
c.*1140del (p.=)
c.646+417del (p.=)
c.316del (p.Glu106SerfsTer8)
c.5-30376del (p.=)
c.-43-19806del (p.=)
c.-99+30944del (p.=)
c.1081del (p.Glu361SerfsTer8)
 ClinVar dbSNP
17g.43094328C>ACA500233575BRCA1c.1203G>T (p.Gly401=)
c.1062G>T (p.Gly354=)
c.787+416G>T (p.=)
n.1339G>T
n.1380G>T
c.670+1518G>T (p.=)
n.554G>T
c.*986G>T (p.=)
n.800G>T
c.1125G>T (p.Gly375=)
c.784+416G>T (p.=)
n.409+416G>T (p.=)
n.412+416G>T (p.=)
c.*1139G>T (p.=)
c.646+416G>T (p.=)
c.315G>T (p.Gly105=)
c.5-30377G>T (p.=)
c.-43-19807G>T (p.=)
c.-99+30943G>T (p.=)
c.1080G>T (p.Gly360=)
17g.43094328C>GCA500233576BRCA1c.1203G>C (p.Gly401=)
c.1062G>C (p.Gly354=)
c.787+416G>C (p.=)
n.1339G>C
n.1380G>C
c.670+1518G>C (p.=)
n.554G>C
c.*986G>C (p.=)
n.800G>C
c.1125G>C (p.Gly375=)
c.784+416G>C (p.=)
n.409+416G>C (p.=)
n.412+416G>C (p.=)
c.*1139G>C (p.=)
c.646+416G>C (p.=)
c.315G>C (p.Gly105=)
c.5-30377G>C (p.=)
c.-43-19807G>C (p.=)
c.-99+30943G>C (p.=)
c.1080G>C (p.Gly360=)
17g.43094328C>TCA500233577BRCA1c.1203G>A (p.Gly401=)
c.1062G>A (p.Gly354=)
c.787+416G>A (p.=)
n.1339G>A
n.1380G>A
c.670+1518G>A (p.=)
n.554G>A
c.*986G>A (p.=)
n.800G>A
c.1125G>A (p.Gly375=)
c.784+416G>A (p.=)
n.409+416G>A (p.=)
n.412+416G>A (p.=)
c.*1139G>A (p.=)
c.646+416G>A (p.=)
c.315G>A (p.Gly105=)
c.5-30377G>A (p.=)
c.-43-19807G>A (p.=)
c.-99+30943G>A (p.=)
c.1080G>A (p.Gly360=)
 ClinVar
17g.43094329C>ACA10599645BRCA1c.1202G>T (p.Gly401Val)
c.1061G>T (p.Gly354Val)
c.787+415G>T (p.=)
n.1338G>T
n.1379G>T
c.670+1517G>T (p.=)
n.553G>T
c.*985G>T (p.=)
n.799G>T
c.1124G>T (p.Gly375Val)
c.784+415G>T (p.=)
n.409+415G>T (p.=)
n.412+415G>T (p.=)
c.*1138G>T (p.=)
c.646+415G>T (p.=)
c.314G>T (p.Gly105Val)
c.5-30378G>T (p.=)
c.-43-19808G>T (p.=)
c.-99+30942G>T (p.=)
c.1079G>T (p.Gly360Val)
17g.43094329C>GCA000792BRCA1c.1202G>C (p.Gly401Ala)
c.1061G>C (p.Gly354Ala)
c.787+415G>C (p.=)
n.1338G>C
n.1379G>C
c.670+1517G>C (p.=)
n.553G>C
c.*985G>C (p.=)
n.799G>C
c.1124G>C (p.Gly375Ala)
c.784+415G>C (p.=)
n.409+415G>C (p.=)
n.412+415G>C (p.=)
c.*1138G>C (p.=)
c.646+415G>C (p.=)
c.314G>C (p.Gly105Ala)
c.5-30378G>C (p.=)
c.-43-19808G>C (p.=)
c.-99+30942G>C (p.=)
c.1079G>C (p.Gly360Ala)
 ClinVar dbSNP
17g.43094329C>TCA000791BRCA1c.1202G>A (p.Gly401Glu)
c.1061G>A (p.Gly354Glu)
c.787+415G>A (p.=)
n.1338G>A
n.1379G>A
c.670+1517G>A (p.=)
n.553G>A
c.*985G>A (p.=)
n.799G>A
c.1124G>A (p.Gly375Glu)
c.784+415G>A (p.=)
n.409+415G>A (p.=)
n.412+415G>A (p.=)
c.*1138G>A (p.=)
c.646+415G>A (p.=)
c.314G>A (p.Gly105Glu)
c.5-30378G>A (p.=)
c.-43-19808G>A (p.=)
c.-99+30942G>A (p.=)
c.1079G>A (p.Gly360Glu)
 ClinVar dbSNP COSMIC COSMIC
17g.43094330C>ACA10599646BRCA1c.1201G>T (p.Gly401Trp)
c.1060G>T (p.Gly354Trp)
c.787+414G>T (p.=)
n.1337G>T
n.1378G>T
c.670+1516G>T (p.=)
n.552G>T
c.*984G>T (p.=)
n.798G>T
c.1123G>T (p.Gly375Trp)
c.784+414G>T (p.=)
n.409+414G>T (p.=)
n.412+414G>T (p.=)
c.*1137G>T (p.=)
c.646+414G>T (p.=)
c.313G>T (p.Gly105Trp)
c.5-30379G>T (p.=)
c.-43-19809G>T (p.=)
c.-99+30941G>T (p.=)
c.1078G>T (p.Gly360Trp)
17g.43094330C>GCA10599647BRCA1c.1201G>C (p.Gly401Arg)
c.1060G>C (p.Gly354Arg)
c.787+414G>C (p.=)
n.1337G>C
n.1378G>C
c.670+1516G>C (p.=)
n.552G>C
c.*984G>C (p.=)
n.798G>C
c.1123G>C (p.Gly375Arg)
c.784+414G>C (p.=)
n.409+414G>C (p.=)
n.412+414G>C (p.=)
c.*1137G>C (p.=)
c.646+414G>C (p.=)
c.313G>C (p.Gly105Arg)
c.5-30379G>C (p.=)
c.-43-19809G>C (p.=)
c.-99+30941G>C (p.=)
c.1078G>C (p.Gly360Arg)
17g.43094330C>TCA10599648BRCA1c.1201G>A (p.Gly401Arg)
c.1060G>A (p.Gly354Arg)
c.787+414G>A (p.=)
n.1337G>A
n.1378G>A
c.670+1516G>A (p.=)
n.552G>A
c.*984G>A (p.=)
n.798G>A
c.1123G>A (p.Gly375Arg)
c.784+414G>A (p.=)
n.409+414G>A (p.=)
n.412+414G>A (p.=)
c.*1137G>A (p.=)
c.646+414G>A (p.=)
c.313G>A (p.Gly105Arg)
c.5-30379G>A (p.=)
c.-43-19809G>A (p.=)
c.-99+30941G>A (p.=)
c.1078G>A (p.Gly360Arg)
 ClinVar
17g.43094331A>CCA10599649BRCA1c.1200T>G (p.Asp400Glu)
c.1059T>G (p.Asp353Glu)
c.787+413T>G (p.=)
n.1336T>G
n.1377T>G
c.670+1515T>G (p.=)
n.551T>G
c.*983T>G (p.=)
n.797T>G
c.1122T>G (p.Asp374Glu)
c.784+413T>G (p.=)
n.409+413T>G (p.=)
n.412+413T>G (p.=)
c.*1136T>G (p.=)
c.646+413T>G (p.=)
c.312T>G (p.Asp104Glu)
c.5-30380T>G (p.=)
c.-43-19810T>G (p.=)
c.-99+30940T>G (p.=)
c.1077T>G (p.Asp359Glu)
17g.43094331A>GCA500233582BRCA1c.1200T>C (p.Asp400=)
c.1059T>C (p.Asp353=)
c.787+413T>C (p.=)
n.1336T>C
n.1377T>C
c.670+1515T>C (p.=)
n.551T>C
c.*983T>C (p.=)
n.797T>C
c.1122T>C (p.Asp374=)
c.784+413T>C (p.=)
n.409+413T>C (p.=)
n.412+413T>C (p.=)
c.*1136T>C (p.=)
c.646+413T>C (p.=)
c.312T>C (p.Asp104=)
c.5-30380T>C (p.=)
c.-43-19810T>C (p.=)
c.-99+30940T>C (p.=)
c.1077T>C (p.Asp359=)
17g.43094331A>TCA10599650BRCA1c.1200T>A (p.Asp400Glu)
c.1059T>A (p.Asp353Glu)
c.787+413T>A (p.=)
n.1336T>A
n.1377T>A
c.670+1515T>A (p.=)
n.551T>A
c.*983T>A (p.=)
n.797T>A
c.1122T>A (p.Asp374Glu)
c.784+413T>A (p.=)
n.409+413T>A (p.=)
n.412+413T>A (p.=)
c.*1136T>A (p.=)
c.646+413T>A (p.=)
c.312T>A (p.Asp104Glu)
c.5-30380T>A (p.=)
c.-43-19810T>A (p.=)
c.-99+30940T>A (p.=)
c.1077T>A (p.Asp359Glu)
17g.43094332T>ACA10599651BRCA1c.1199A>T (p.Asp400Val)
c.1058A>T (p.Asp353Val)
c.787+412A>T (p.=)
n.1335A>T
n.1376A>T
c.670+1514A>T (p.=)
n.550A>T
c.*982A>T (p.=)
n.796A>T
c.1121A>T (p.Asp374Val)
c.784+412A>T (p.=)
n.409+412A>T (p.=)
n.412+412A>T (p.=)
c.*1135A>T (p.=)
c.646+412A>T (p.=)
c.311A>T (p.Asp104Val)
c.5-30381A>T (p.=)
c.-43-19811A>T (p.=)
c.-99+30939A>T (p.=)
c.1076A>T (p.Asp359Val)
17g.43094332T>CCA10599652BRCA1c.1199A>G (p.Asp400Gly)
c.1058A>G (p.Asp353Gly)
c.787+412A>G (p.=)
n.1335A>G
n.1376A>G
c.670+1514A>G (p.=)
n.550A>G
c.*982A>G (p.=)
n.796A>G
c.1121A>G (p.Asp374Gly)
c.784+412A>G (p.=)
n.409+412A>G (p.=)
n.412+412A>G (p.=)
c.*1135A>G (p.=)
c.646+412A>G (p.=)
c.311A>G (p.Asp104Gly)
c.5-30381A>G (p.=)
c.-43-19811A>G (p.=)
c.-99+30939A>G (p.=)
c.1076A>G (p.Asp359Gly)
 ClinVar
17g.43094332T>GCA10599653BRCA1c.1199A>C (p.Asp400Ala)
c.1058A>C (p.Asp353Ala)
c.787+412A>C (p.=)
n.1335A>C
n.1376A>C
c.670+1514A>C (p.=)
n.550A>C
c.*982A>C (p.=)
n.796A>C
c.1121A>C (p.Asp374Ala)
c.784+412A>C (p.=)
n.409+412A>C (p.=)
n.412+412A>C (p.=)
c.*1135A>C (p.=)
c.646+412A>C (p.=)
c.311A>C (p.Asp104Ala)
c.5-30381A>C (p.=)
c.-43-19811A>C (p.=)
c.-99+30939A>C (p.=)
c.1076A>C (p.Asp359Ala)
17g.43094333C>ACA10599654BRCA1c.1198G>T (p.Asp400Tyr)
c.1057G>T (p.Asp353Tyr)
c.787+411G>T (p.=)
n.1334G>T
n.1375G>T
c.670+1513G>T (p.=)
n.549G>T
c.*981G>T (p.=)
n.795G>T
c.1120G>T (p.Asp374Tyr)
c.784+411G>T (p.=)
n.409+411G>T (p.=)
n.412+411G>T (p.=)
c.*1134G>T (p.=)
c.646+411G>T (p.=)
c.310G>T (p.Asp104Tyr)
c.5-30382G>T (p.=)
c.-43-19812G>T (p.=)
c.-99+30938G>T (p.=)
c.1075G>T (p.Asp359Tyr)
17g.43094333C>GCA10599655BRCA1c.1198G>C (p.Asp400His)
c.1057G>C (p.Asp353His)
c.787+411G>C (p.=)
n.1334G>C
n.1375G>C
c.670+1513G>C (p.=)
n.549G>C
c.*981G>C (p.=)
n.795G>C
c.1120G>C (p.Asp374His)
c.784+411G>C (p.=)
n.409+411G>C (p.=)
n.412+411G>C (p.=)
c.*1134G>C (p.=)
c.646+411G>C (p.=)
c.310G>C (p.Asp104His)
c.5-30382G>C (p.=)
c.-43-19812G>C (p.=)
c.-99+30938G>C (p.=)
c.1075G>C (p.Asp359His)
17g.43094333C>TCA10599656BRCA1c.1198G>A (p.Asp400Asn)
c.1057G>A (p.Asp353Asn)
c.787+411G>A (p.=)
n.1334G>A
n.1375G>A
c.670+1513G>A (p.=)
n.549G>A
c.*981G>A (p.=)
n.795G>A
c.1120G>A (p.Asp374Asn)
c.784+411G>A (p.=)
n.409+411G>A (p.=)
n.412+411G>A (p.=)
c.*1134G>A (p.=)
c.646+411G>A (p.=)
c.310G>A (p.Asp104Asn)
c.5-30382G>A (p.=)
c.-43-19812G>A (p.=)
c.-99+30938G>A (p.=)
c.1075G>A (p.Asp359Asn)
17g.43094334A>CCA10599657BRCA1c.1197T>G (p.His399Gln)
c.1056T>G (p.His352Gln)
c.787+410T>G (p.=)
n.1333T>G
n.1374T>G
c.670+1512T>G (p.=)
n.548T>G
c.*980T>G (p.=)
n.794T>G
c.1119T>G (p.His373Gln)
c.784+410T>G (p.=)
n.409+410T>G (p.=)
n.412+410T>G (p.=)
c.*1133T>G (p.=)
c.646+410T>G (p.=)
c.309T>G (p.His103Gln)
c.5-30383T>G (p.=)
c.-43-19813T>G (p.=)
c.-99+30937T>G (p.=)
c.1074T>G (p.His358Gln)
17g.43094334A>GCA500233587BRCA1c.1197T>C (p.His399=)
c.1056T>C (p.His352=)
c.787+410T>C (p.=)
n.1333T>C
n.1374T>C
c.670+1512T>C (p.=)
n.548T>C
c.*980T>C (p.=)
n.794T>C
c.1119T>C (p.His373=)
c.784+410T>C (p.=)
n.409+410T>C (p.=)
n.412+410T>C (p.=)
c.*1133T>C (p.=)
c.646+410T>C (p.=)
c.309T>C (p.His103=)
c.5-30383T>C (p.=)
c.-43-19813T>C (p.=)
c.-99+30937T>C (p.=)
c.1074T>C (p.His358=)
 ClinVar
17g.43094334A>TCA10599658BRCA1c.1197T>A (p.His399Gln)
c.1056T>A (p.His352Gln)
c.787+410T>A (p.=)
n.1333T>A
n.1374T>A
c.670+1512T>A (p.=)
n.548T>A
c.*980T>A (p.=)
n.794T>A
c.1119T>A (p.His373Gln)
c.784+410T>A (p.=)
n.409+410T>A (p.=)
n.412+410T>A (p.=)
c.*1133T>A (p.=)
c.646+410T>A (p.=)
c.309T>A (p.His103Gln)
c.5-30383T>A (p.=)
c.-43-19813T>A (p.=)
c.-99+30937T>A (p.=)
c.1074T>A (p.His358Gln)
17g.43094335T>ACA10599659BRCA1c.1196A>T (p.His399Leu)
c.1055A>T (p.His352Leu)
c.787+409A>T (p.=)
n.1332A>T
n.1373A>T
c.670+1511A>T (p.=)
n.547A>T
c.*979A>T (p.=)
n.793A>T
c.1118A>T (p.His373Leu)
c.784+409A>T (p.=)
n.409+409A>T (p.=)
n.412+409A>T (p.=)
c.*1132A>T (p.=)
c.646+409A>T (p.=)
c.308A>T (p.His103Leu)
c.5-30384A>T (p.=)
c.-43-19814A>T (p.=)
c.-99+30936A>T (p.=)
c.1073A>T (p.His358Leu)
17g.43094335T>CCA000787BRCA1c.1196A>G (p.His399Arg)
c.1055A>G (p.His352Arg)
c.787+409A>G (p.=)
n.1332A>G
n.1373A>G
c.670+1511A>G (p.=)
n.547A>G
c.*979A>G (p.=)
n.793A>G
c.1118A>G (p.His373Arg)
c.784+409A>G (p.=)
n.409+409A>G (p.=)
n.412+409A>G (p.=)
c.*1132A>G (p.=)
c.646+409A>G (p.=)
c.308A>G (p.His103Arg)
c.5-30384A>G (p.=)
c.-43-19814A>G (p.=)
c.-99+30936A>G (p.=)
c.1073A>G (p.His358Arg)
 ClinVar dbSNP gnomAD
17g.43094335T>GCA10599660BRCA1c.1196A>C (p.His399Pro)
c.1055A>C (p.His352Pro)
c.787+409A>C (p.=)
n.1332A>C
n.1373A>C
c.670+1511A>C (p.=)
n.547A>C
c.*979A>C (p.=)
n.793A>C
c.1118A>C (p.His373Pro)
c.784+409A>C (p.=)
n.409+409A>C (p.=)
n.412+409A>C (p.=)
c.*1132A>C (p.=)
c.646+409A>C (p.=)
c.308A>C (p.His103Pro)
c.5-30384A>C (p.=)
c.-43-19814A>C (p.=)
c.-99+30936A>C (p.=)
c.1073A>C (p.His358Pro)
17g.43094336G>ACA10599661BRCA1c.1195C>T (p.His399Tyr)
c.1054C>T (p.His352Tyr)
c.787+408C>T (p.=)
n.1331C>T
n.1372C>T
c.670+1510C>T (p.=)
n.546C>T
c.*978C>T (p.=)
n.792C>T
c.1117C>T (p.His373Tyr)
c.784+408C>T (p.=)
n.409+408C>T (p.=)
n.412+408C>T (p.=)
c.*1131C>T (p.=)
c.646+408C>T (p.=)
c.307C>T (p.His103Tyr)
c.5-30385C>T (p.=)
c.-43-19815C>T (p.=)
c.-99+30935C>T (p.=)
c.1072C>T (p.His358Tyr)
17g.43094336G>CCA10599662BRCA1c.1195C>G (p.His399Asp)
c.1054C>G (p.His352Asp)
c.787+408C>G (p.=)
n.1331C>G
n.1372C>G
c.670+1510C>G (p.=)
n.546C>G
c.*978C>G (p.=)
n.792C>G
c.1117C>G (p.His373Asp)
c.784+408C>G (p.=)
n.409+408C>G (p.=)
n.412+408C>G (p.=)
c.*1131C>G (p.=)
c.646+408C>G (p.=)
c.307C>G (p.His103Asp)
c.5-30385C>G (p.=)
c.-43-19815C>G (p.=)
c.-99+30935C>G (p.=)
c.1072C>G (p.His358Asp)
17g.43094336G>TCA10599663BRCA1c.1195C>A (p.His399Asn)
c.1054C>A (p.His352Asn)
c.787+408C>A (p.=)
n.1331C>A
n.1372C>A
c.670+1510C>A (p.=)
n.546C>A
c.*978C>A (p.=)
n.792C>A
c.1117C>A (p.His373Asn)
c.784+408C>A (p.=)
n.409+408C>A (p.=)
n.412+408C>A (p.=)
c.*1131C>A (p.=)
c.646+408C>A (p.=)
c.307C>A (p.His103Asn)
c.5-30385C>A (p.=)
c.-43-19815C>A (p.=)
c.-99+30935C>A (p.=)
c.1072C>A (p.His358Asn)
17g.43094337T>ACA500233593BRCA1c.1194A>T (p.Ser398=)
c.1053A>T (p.Ser351=)
c.787+407A>T (p.=)
n.1330A>T
n.1371A>T
c.670+1509A>T (p.=)
n.545A>T
c.*977A>T (p.=)
n.791A>T
c.1116A>T (p.Ser372=)
c.784+407A>T (p.=)
n.409+407A>T (p.=)
n.412+407A>T (p.=)
c.*1130A>T (p.=)
c.646+407A>T (p.=)
c.306A>T (p.Ser102=)
c.5-30386A>T (p.=)
c.-43-19816A>T (p.=)
c.-99+30934A>T (p.=)
c.1071A>T (p.Ser357=)
17g.43094337T>CCA500233590BRCA1c.1194A>G (p.Ser398=)
c.1053A>G (p.Ser351=)
c.787+407A>G (p.=)
n.1330A>G
n.1371A>G
c.670+1509A>G (p.=)
n.545A>G
c.*977A>G (p.=)
n.791A>G
c.1116A>G (p.Ser372=)
c.784+407A>G (p.=)
n.409+407A>G (p.=)
n.412+407A>G (p.=)
c.*1130A>G (p.=)
c.646+407A>G (p.=)
c.306A>G (p.Ser102=)
c.5-30386A>G (p.=)
c.-43-19816A>G (p.=)
c.-99+30934A>G (p.=)
c.1071A>G (p.Ser357=)
17g.43094337T>GCA500233592BRCA1c.1194A>C (p.Ser398=)
c.1053A>C (p.Ser351=)
c.787+407A>C (p.=)
n.1330A>C
n.1371A>C
c.670+1509A>C (p.=)
n.545A>C
c.*977A>C (p.=)
n.791A>C
c.1116A>C (p.Ser372=)
c.784+407A>C (p.=)
n.409+407A>C (p.=)
n.412+407A>C (p.=)
c.*1130A>C (p.=)
c.646+407A>C (p.=)
c.306A>C (p.Ser102=)
c.5-30386A>C (p.=)
c.-43-19816A>C (p.=)
c.-99+30934A>C (p.=)
c.1071A>C (p.Ser357=)

Number of alleles fetched