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.43094515T>ACA10600027BRCA1c.1016A>T (p.Lys339Met)
c.875A>T (p.Lys292Met)
c.787+229A>T (p.=)
n.1152A>T
n.1193A>T
c.670+1331A>T (p.=)
n.367A>T
c.*799A>T (p.=)
n.613A>T
c.938A>T (p.Lys313Met)
c.784+229A>T (p.=)
n.409+229A>T (p.=)
n.412+229A>T (p.=)
c.*952A>T (p.=)
c.646+229A>T (p.=)
c.128A>T (p.Lys43Met)
c.5-30564A>T (p.=)
c.-43-19994A>T (p.=)
c.-99+30756A>T (p.=)
c.893A>T (p.Lys298Met)
17g.43094515T>CCA10600028BRCA1c.1016A>G (p.Lys339Arg)
c.875A>G (p.Lys292Arg)
c.787+229A>G (p.=)
n.1152A>G
n.1193A>G
c.670+1331A>G (p.=)
n.367A>G
c.*799A>G (p.=)
n.613A>G
c.938A>G (p.Lys313Arg)
c.784+229A>G (p.=)
n.409+229A>G (p.=)
n.412+229A>G (p.=)
c.*952A>G (p.=)
c.646+229A>G (p.=)
c.128A>G (p.Lys43Arg)
c.5-30564A>G (p.=)
c.-43-19994A>G (p.=)
c.-99+30756A>G (p.=)
c.893A>G (p.Lys298Arg)
ClinVar
17g.43094515T>GCA000687BRCA1c.1016A>C (p.Lys339Thr)
c.875A>C (p.Lys292Thr)
c.787+229A>C (p.=)
n.1152A>C
n.1193A>C
c.670+1331A>C (p.=)
n.367A>C
c.*799A>C (p.=)
n.613A>C
c.938A>C (p.Lys313Thr)
c.784+229A>C (p.=)
n.409+229A>C (p.=)
n.412+229A>C (p.=)
c.*952A>C (p.=)
c.646+229A>C (p.=)
c.128A>C (p.Lys43Thr)
c.5-30564A>C (p.=)
c.-43-19994A>C (p.=)
c.-99+30756A>C (p.=)
c.893A>C (p.Lys298Thr)
ClinVar dbSNP gnomAD
17g.43094521dupCA000681BRCA1c.1016dup (p.Val340GlyfsTer6)
c.875dup (p.Val293GlyfsTer6)
c.787+229dup (p.=)
n.1152dup
n.1193dup
c.670+1331dup (p.=)
n.367dup
c.*799dup (p.=)
n.613dup
c.938dup (p.Val314GlyfsTer6)
c.784+229dup (p.=)
n.409+229dup (p.=)
n.412+229dup (p.=)
c.*952dup (p.=)
c.646+229dup (p.=)
c.128dup (p.Val44GlyfsTer6)
c.5-30564dup (p.=)
c.-43-19994dup (p.=)
c.-99+30756dup (p.=)
c.893dup (p.Val299GlyfsTer6)
ClinVar dbSNP gnomAD
17g.43094521delCA000682BRCA1c.1016del (p.Lys339ArgfsTer2)
c.875del (p.Lys292ArgfsTer2)
c.787+229del (p.=)
n.1152del
n.1193del
c.670+1331del (p.=)
n.367del
c.*799del (p.=)
n.613del
c.938del (p.Lys313ArgfsTer2)
c.784+229del (p.=)
n.409+229del (p.=)
n.412+229del (p.=)
c.*952del (p.=)
c.646+229del (p.=)
c.128del (p.Lys43ArgfsTer2)
c.5-30564del (p.=)
c.-43-19994del (p.=)
c.-99+30756del (p.=)
c.893del (p.Lys298ArgfsTer2)
ClinVar dbSNP dbSNP dbSNP COSMIC COSMIC
17g.43094516T>ACA10600029BRCA1c.1015A>T (p.Lys339Ter)
c.874A>T (p.Lys292Ter)
c.787+228A>T (p.=)
n.1151A>T
n.1192A>T
c.670+1330A>T (p.=)
n.366A>T
c.*798A>T (p.=)
n.612A>T
c.937A>T (p.Lys313Ter)
c.784+228A>T (p.=)
n.409+228A>T (p.=)
n.412+228A>T (p.=)
c.*951A>T (p.=)
c.646+228A>T (p.=)
c.127A>T (p.Lys43Ter)
c.5-30565A>T (p.=)
c.-43-19995A>T (p.=)
c.-99+30755A>T (p.=)
c.892A>T (p.Lys298Ter)
17g.43094516T>CCA000685BRCA1c.1015A>G (p.Lys339Glu)
c.874A>G (p.Lys292Glu)
c.787+228A>G (p.=)
n.1151A>G
n.1192A>G
c.670+1330A>G (p.=)
n.366A>G
c.*798A>G (p.=)
n.612A>G
c.937A>G (p.Lys313Glu)
c.784+228A>G (p.=)
n.409+228A>G (p.=)
n.412+228A>G (p.=)
c.*951A>G (p.=)
c.646+228A>G (p.=)
c.127A>G (p.Lys43Glu)
c.5-30565A>G (p.=)
c.-43-19995A>G (p.=)
c.-99+30755A>G (p.=)
c.892A>G (p.Lys298Glu)
ClinVar dbSNP gnomAD
17g.43094516T>GCA10600030BRCA1c.1015A>C (p.Lys339Gln)
c.874A>C (p.Lys292Gln)
c.787+228A>C (p.=)
n.1151A>C
n.1192A>C
c.670+1330A>C (p.=)
n.366A>C
c.*798A>C (p.=)
n.612A>C
c.937A>C (p.Lys313Gln)
c.784+228A>C (p.=)
n.409+228A>C (p.=)
n.412+228A>C (p.=)
c.*951A>C (p.=)
c.646+228A>C (p.=)
c.127A>C (p.Lys43Gln)
c.5-30565A>C (p.=)
c.-43-19995A>C (p.=)
c.-99+30755A>C (p.=)
c.892A>C (p.Lys298Gln)
17g.43094518_43094581delCA003981BRCA1c.952_1015del (p.His318ArgfsTer2)
c.811_874del (p.His271ArgfsTer2)
c.787+165_787+228del (p.=)
n.1088_1151del
n.1129_1192del
c.670+1267_670+1330del (p.=)
n.303_366del
c.*735_*798del (p.=)
n.549_612del
c.874_937del (p.His292ArgfsTer2)
c.784+165_784+228del (p.=)
n.409+165_409+228del (p.=)
n.412+165_412+228del (p.=)
c.*888_*951del (p.=)
c.646+165_646+228del (p.=)
c.64_127del (p.His22ArgfsTer2)
c.4+30603_5-30565del (p.=)
c.-43-20058_-43-19995del (p.=)
c.-99+30692_-99+30755del (p.=)
c.829_892del (p.His277ArgfsTer2)
ClinVar dbSNP
17g.43094517T>ACA10600031BRCA1c.1014A>T (p.Lys338Asn)
c.873A>T (p.Lys291Asn)
c.787+227A>T (p.=)
n.1150A>T
n.1191A>T
c.670+1329A>T (p.=)
n.365A>T
c.*797A>T (p.=)
n.611A>T
c.936A>T (p.Lys312Asn)
c.784+227A>T (p.=)
n.409+227A>T (p.=)
n.412+227A>T (p.=)
c.*950A>T (p.=)
c.646+227A>T (p.=)
c.126A>T (p.Lys42Asn)
c.5-30566A>T (p.=)
c.-43-19996A>T (p.=)
c.-99+30754A>T (p.=)
c.891A>T (p.Lys297Asn)
17g.43094517T>CCA10580684BRCA1c.1014A>G (p.Lys338=)
c.873A>G (p.Lys291=)
c.787+227A>G (p.=)
n.1150A>G
n.1191A>G
c.670+1329A>G (p.=)
n.365A>G
c.*797A>G (p.=)
n.611A>G
c.936A>G (p.Lys312=)
c.784+227A>G (p.=)
n.409+227A>G (p.=)
n.412+227A>G (p.=)
c.*950A>G (p.=)
c.646+227A>G (p.=)
c.126A>G (p.Lys42=)
c.5-30566A>G (p.=)
c.-43-19996A>G (p.=)
c.-99+30754A>G (p.=)
c.891A>G (p.Lys297=)
ClinVar dbSNP
17g.43094517T>GCA10600032BRCA1c.1014A>C (p.Lys338Asn)
c.873A>C (p.Lys291Asn)
c.787+227A>C (p.=)
n.1150A>C
n.1191A>C
c.670+1329A>C (p.=)
n.365A>C
c.*797A>C (p.=)
n.611A>C
c.936A>C (p.Lys312Asn)
c.784+227A>C (p.=)
n.409+227A>C (p.=)
n.412+227A>C (p.=)
c.*950A>C (p.=)
c.646+227A>C (p.=)
c.126A>C (p.Lys42Asn)
c.5-30566A>C (p.=)
c.-43-19996A>C (p.=)
c.-99+30754A>C (p.=)
c.891A>C (p.Lys297Asn)
17g.43094518T>ACA10600033BRCA1c.1013A>T (p.Lys338Ile)
c.872A>T (p.Lys291Ile)
c.787+226A>T (p.=)
n.1149A>T
n.1190A>T
c.670+1328A>T (p.=)
n.364A>T
c.*796A>T (p.=)
n.610A>T
c.935A>T (p.Lys312Ile)
c.784+226A>T (p.=)
n.409+226A>T (p.=)
n.412+226A>T (p.=)
c.*949A>T (p.=)
c.646+226A>T (p.=)
c.125A>T (p.Lys42Ile)
c.5-30567A>T (p.=)
c.-43-19997A>T (p.=)
c.-99+30753A>T (p.=)
c.890A>T (p.Lys297Ile)
17g.43094518T>CCA10600034BRCA1c.1013A>G (p.Lys338Arg)
c.872A>G (p.Lys291Arg)
c.787+226A>G (p.=)
n.1149A>G
n.1190A>G
c.670+1328A>G (p.=)
n.364A>G
c.*796A>G (p.=)
n.610A>G
c.935A>G (p.Lys312Arg)
c.784+226A>G (p.=)
n.409+226A>G (p.=)
n.412+226A>G (p.=)
c.*949A>G (p.=)
c.646+226A>G (p.=)
c.125A>G (p.Lys42Arg)
c.5-30567A>G (p.=)
c.-43-19997A>G (p.=)
c.-99+30753A>G (p.=)
c.890A>G (p.Lys297Arg)
17g.43094518T>GCA10600035BRCA1c.1013A>C (p.Lys338Thr)
c.872A>C (p.Lys291Thr)
c.787+226A>C (p.=)
n.1149A>C
n.1190A>C
c.670+1328A>C (p.=)
n.364A>C
c.*796A>C (p.=)
n.610A>C
c.935A>C (p.Lys312Thr)
c.784+226A>C (p.=)
n.409+226A>C (p.=)
n.412+226A>C (p.=)
c.*949A>C (p.=)
c.646+226A>C (p.=)
c.125A>C (p.Lys42Thr)
c.5-30567A>C (p.=)
c.-43-19997A>C (p.=)
c.-99+30753A>C (p.=)
c.890A>C (p.Lys297Thr)
17g.43094519T>ACA000683BRCA1c.1012A>T (p.Lys338Ter)
c.871A>T (p.Lys291Ter)
c.787+225A>T (p.=)
n.1148A>T
n.1189A>T
c.670+1327A>T (p.=)
n.363A>T
c.*795A>T (p.=)
n.609A>T
c.934A>T (p.Lys312Ter)
c.784+225A>T (p.=)
n.409+225A>T (p.=)
n.412+225A>T (p.=)
c.*948A>T (p.=)
c.646+225A>T (p.=)
c.124A>T (p.Lys42Ter)
c.5-30568A>T (p.=)
c.-43-19998A>T (p.=)
c.-99+30752A>T (p.=)
c.889A>T (p.Lys297Ter)
ClinVar dbSNP
17g.43094519T>CCA10600036BRCA1c.1012A>G (p.Lys338Glu)
c.871A>G (p.Lys291Glu)
c.787+225A>G (p.=)
n.1148A>G
n.1189A>G
c.670+1327A>G (p.=)
n.363A>G
c.*795A>G (p.=)
n.609A>G
c.934A>G (p.Lys312Glu)
c.784+225A>G (p.=)
n.409+225A>G (p.=)
n.412+225A>G (p.=)
c.*948A>G (p.=)
c.646+225A>G (p.=)
c.124A>G (p.Lys42Glu)
c.5-30568A>G (p.=)
c.-43-19998A>G (p.=)
c.-99+30752A>G (p.=)
c.889A>G (p.Lys297Glu)
ClinVar
17g.43094519T>GCA10600037BRCA1c.1012A>C (p.Lys338Gln)
c.871A>C (p.Lys291Gln)
c.787+225A>C (p.=)
n.1148A>C
n.1189A>C
c.670+1327A>C (p.=)
n.363A>C
c.*795A>C (p.=)
n.609A>C
c.934A>C (p.Lys312Gln)
c.784+225A>C (p.=)
n.409+225A>C (p.=)
n.412+225A>C (p.=)
c.*948A>C (p.=)
c.646+225A>C (p.=)
c.124A>C (p.Lys42Gln)
c.5-30568A>C (p.=)
c.-43-19998A>C (p.=)
c.-99+30752A>C (p.=)
c.889A>C (p.Lys297Gln)
17g.43094520T>ACA10600038BRCA1c.1011A>T (p.Glu337Asp)
c.870A>T (p.Glu290Asp)
c.787+224A>T (p.=)
n.1147A>T
n.1188A>T
c.670+1326A>T (p.=)
n.362A>T
c.*794A>T (p.=)
n.608A>T
c.933A>T (p.Glu311Asp)
c.784+224A>T (p.=)
n.409+224A>T (p.=)
n.412+224A>T (p.=)
c.*947A>T (p.=)
c.646+224A>T (p.=)
c.123A>T (p.Glu41Asp)
c.5-30569A>T (p.=)
c.-43-19999A>T (p.=)
c.-99+30751A>T (p.=)
c.888A>T (p.Glu296Asp)
17g.43094520T>CCA500234038BRCA1c.1011A>G (p.Glu337=)
c.870A>G (p.Glu290=)
c.787+224A>G (p.=)
n.1147A>G
n.1188A>G
c.670+1326A>G (p.=)
n.362A>G
c.*794A>G (p.=)
n.608A>G
c.933A>G (p.Glu311=)
c.784+224A>G (p.=)
n.409+224A>G (p.=)
n.412+224A>G (p.=)
c.*947A>G (p.=)
c.646+224A>G (p.=)
c.123A>G (p.Glu41=)
c.5-30569A>G (p.=)
c.-43-19999A>G (p.=)
c.-99+30751A>G (p.=)
c.888A>G (p.Glu296=)
ClinVar
17g.43094520T>GCA10600039BRCA1c.1011A>C (p.Glu337Asp)
c.870A>C (p.Glu290Asp)
c.787+224A>C (p.=)
n.1147A>C
n.1188A>C
c.670+1326A>C (p.=)
n.362A>C
c.*794A>C (p.=)
n.608A>C
c.933A>C (p.Glu311Asp)
c.784+224A>C (p.=)
n.409+224A>C (p.=)
n.412+224A>C (p.=)
c.*947A>C (p.=)
c.646+224A>C (p.=)
c.123A>C (p.Glu41Asp)
c.5-30569A>C (p.=)
c.-43-19999A>C (p.=)
c.-99+30751A>C (p.=)
c.888A>C (p.Glu296Asp)
17g.43094521T>ACA10600040BRCA1c.1010A>T (p.Glu337Val)
c.869A>T (p.Glu290Val)
c.787+223A>T (p.=)
n.1146A>T
n.1187A>T
c.670+1325A>T (p.=)
n.361A>T
c.*793A>T (p.=)
n.607A>T
c.932A>T (p.Glu311Val)
c.784+223A>T (p.=)
n.409+223A>T (p.=)
n.412+223A>T (p.=)
c.*946A>T (p.=)
c.646+223A>T (p.=)
c.122A>T (p.Glu41Val)
c.5-30570A>T (p.=)
c.-43-20000A>T (p.=)
c.-99+30750A>T (p.=)
c.887A>T (p.Glu296Val)
17g.43094521T>CCA10600041BRCA1c.1010A>G (p.Glu337Gly)
c.869A>G (p.Glu290Gly)
c.787+223A>G (p.=)
n.1146A>G
n.1187A>G
c.670+1325A>G (p.=)
n.361A>G
c.*793A>G (p.=)
n.607A>G
c.932A>G (p.Glu311Gly)
c.784+223A>G (p.=)
n.409+223A>G (p.=)
n.412+223A>G (p.=)
c.*946A>G (p.=)
c.646+223A>G (p.=)
c.122A>G (p.Glu41Gly)
c.5-30570A>G (p.=)
c.-43-20000A>G (p.=)
c.-99+30750A>G (p.=)
c.887A>G (p.Glu296Gly)
17g.43094521T>GCA10600042BRCA1c.1010A>C (p.Glu337Ala)
c.869A>C (p.Glu290Ala)
c.787+223A>C (p.=)
n.1146A>C
n.1187A>C
c.670+1325A>C (p.=)
n.361A>C
c.*793A>C (p.=)
n.607A>C
c.932A>C (p.Glu311Ala)
c.784+223A>C (p.=)
n.409+223A>C (p.=)
n.412+223A>C (p.=)
c.*946A>C (p.=)
c.646+223A>C (p.=)
c.122A>C (p.Glu41Ala)
c.5-30570A>C (p.=)
c.-43-20000A>C (p.=)
c.-99+30750A>C (p.=)
c.887A>C (p.Glu296Ala)
17g.43094522_43094523delCA658824545BRCA1c.1009_1010del (p.Glu337LysfsTer8)
c.868_869del (p.Glu290LysfsTer8)
c.787+222_787+223del (p.=)
n.1145_1146del
n.1186_1187del
c.670+1324_670+1325del (p.=)
n.360_361del
c.*792_*793del (p.=)
n.606_607del
c.931_932del (p.Glu311LysfsTer8)
c.784+222_784+223del (p.=)
n.409+222_409+223del (p.=)
n.412+222_412+223del (p.=)
c.*945_*946del (p.=)
c.646+222_646+223del (p.=)
c.121_122del (p.Glu41LysfsTer8)
c.5-30571_5-30570del (p.=)
c.-43-20001_-43-20000del (p.=)
c.-99+30749_-99+30750del (p.=)
c.886_887del (p.Glu296LysfsTer8)
ClinVar dbSNP
17g.43094523_43094535delCA658656801BRCA1c.998_1010del (p.Thr333LysfsTer4)
c.857_869del (p.Thr286LysfsTer4)
c.787+211_787+223del (p.=)
n.1134_1146del
n.1175_1187del
c.670+1313_670+1325del (p.=)
n.349_361del
c.*781_*793del (p.=)
n.595_607del
c.920_932del (p.Thr307LysfsTer4)
c.784+211_784+223del (p.=)
n.409+211_409+223del (p.=)
n.412+211_412+223del (p.=)
c.*934_*946del (p.=)
c.646+211_646+223del (p.=)
c.110_122del (p.Thr37LysfsTer4)
c.5-30582_5-30570del (p.=)
c.-43-20012_-43-20000del (p.=)
c.-99+30738_-99+30750del (p.=)
c.875_887del (p.Thr292LysfsTer4)
ClinVar dbSNP
17g.43094522C>ACA10600043BRCA1c.1009G>T (p.Glu337Ter)
c.868G>T (p.Glu290Ter)
c.787+222G>T (p.=)
n.1145G>T
n.1186G>T
c.670+1324G>T (p.=)
n.360G>T
c.*792G>T (p.=)
n.606G>T
c.931G>T (p.Glu311Ter)
c.784+222G>T (p.=)
n.409+222G>T (p.=)
n.412+222G>T (p.=)
c.*945G>T (p.=)
c.646+222G>T (p.=)
c.121G>T (p.Glu41Ter)
c.5-30571G>T (p.=)
c.-43-20001G>T (p.=)
c.-99+30749G>T (p.=)
c.886G>T (p.Glu296Ter)
17g.43094522C>GCA10600044BRCA1c.1009G>C (p.Glu337Gln)
c.868G>C (p.Glu290Gln)
c.787+222G>C (p.=)
n.1145G>C
n.1186G>C
c.670+1324G>C (p.=)
n.360G>C
c.*792G>C (p.=)
n.606G>C
c.931G>C (p.Glu311Gln)
c.784+222G>C (p.=)
n.409+222G>C (p.=)
n.412+222G>C (p.=)
c.*945G>C (p.=)
c.646+222G>C (p.=)
c.121G>C (p.Glu41Gln)
c.5-30571G>C (p.=)
c.-43-20001G>C (p.=)
c.-99+30749G>C (p.=)
c.886G>C (p.Glu296Gln)
17g.43094522C>TCA10600045BRCA1c.1009G>A (p.Glu337Lys)
c.868G>A (p.Glu290Lys)
c.787+222G>A (p.=)
n.1145G>A
n.1186G>A
c.670+1324G>A (p.=)
n.360G>A
c.*792G>A (p.=)
n.606G>A
c.931G>A (p.Glu311Lys)
c.784+222G>A (p.=)
n.409+222G>A (p.=)
n.412+222G>A (p.=)
c.*945G>A (p.=)
c.646+222G>A (p.=)
c.121G>A (p.Glu41Lys)
c.5-30571G>A (p.=)
c.-43-20001G>A (p.=)
c.-99+30749G>A (p.=)
c.886G>A (p.Glu296Lys)
17g.43094523T>ACA500234039BRCA1c.1008A>T (p.Thr336=)
c.867A>T (p.Thr289=)
c.787+221A>T (p.=)
n.1144A>T
n.1185A>T
c.670+1323A>T (p.=)
n.359A>T
c.*791A>T (p.=)
n.605A>T
c.930A>T (p.Thr310=)
c.784+221A>T (p.=)
n.409+221A>T (p.=)
n.412+221A>T (p.=)
c.*944A>T (p.=)
c.646+221A>T (p.=)
c.120A>T (p.Thr40=)
c.5-30572A>T (p.=)
c.-43-20002A>T (p.=)
c.-99+30748A>T (p.=)
c.885A>T (p.Thr295=)
17g.43094523T>CCA16615388BRCA1c.1008A>G (p.Thr336=)
c.867A>G (p.Thr289=)
c.787+221A>G (p.=)
n.1144A>G
n.1185A>G
c.670+1323A>G (p.=)
n.359A>G
c.*791A>G (p.=)
n.605A>G
c.930A>G (p.Thr310=)
c.784+221A>G (p.=)
n.409+221A>G (p.=)
n.412+221A>G (p.=)
c.*944A>G (p.=)
c.646+221A>G (p.=)
c.120A>G (p.Thr40=)
c.5-30572A>G (p.=)
c.-43-20002A>G (p.=)
c.-99+30748A>G (p.=)
c.885A>G (p.Thr295=)
ClinVar
17g.43094523T>GCA500234040BRCA1c.1008A>C (p.Thr336=)
c.867A>C (p.Thr289=)
c.787+221A>C (p.=)
n.1144A>C
n.1185A>C
c.670+1323A>C (p.=)
n.359A>C
c.*791A>C (p.=)
n.605A>C
c.930A>C (p.Thr310=)
c.784+221A>C (p.=)
n.409+221A>C (p.=)
n.412+221A>C (p.=)
c.*944A>C (p.=)
c.646+221A>C (p.=)
c.120A>C (p.Thr40=)
c.5-30572A>C (p.=)
c.-43-20002A>C (p.=)
c.-99+30748A>C (p.=)
c.885A>C (p.Thr295=)
17g.43094523dupCA000680BRCA1c.1008dup (p.Glu337ArgfsTer9)
c.867dup (p.Glu290ArgfsTer9)
c.787+221dup (p.=)
n.1144dup
n.1185dup
c.670+1323dup (p.=)
n.359dup
c.*791dup (p.=)
n.605dup
c.930dup (p.Glu311ArgfsTer9)
c.784+221dup (p.=)
n.409+221dup (p.=)
n.412+221dup (p.=)
c.*944dup (p.=)
c.646+221dup (p.=)
c.120dup (p.Glu41ArgfsTer9)
c.5-30572dup (p.=)
c.-43-20002dup (p.=)
c.-99+30748dup (p.=)
c.885dup (p.Glu296ArgfsTer9)
ClinVar dbSNP
17g.43094524G>ACA10600046BRCA1c.1007C>T (p.Thr336Ile)
c.866C>T (p.Thr289Ile)
c.787+220C>T (p.=)
n.1143C>T
n.1184C>T
c.670+1322C>T (p.=)
n.358C>T
c.*790C>T (p.=)
n.604C>T
c.929C>T (p.Thr310Ile)
c.784+220C>T (p.=)
n.409+220C>T (p.=)
n.412+220C>T (p.=)
c.*943C>T (p.=)
c.646+220C>T (p.=)
c.119C>T (p.Thr40Ile)
c.5-30573C>T (p.=)
c.-43-20003C>T (p.=)
c.-99+30747C>T (p.=)
c.884C>T (p.Thr295Ile)
17g.43094524G>CCA10600047BRCA1c.1007C>G (p.Thr336Arg)
c.866C>G (p.Thr289Arg)
c.787+220C>G (p.=)
n.1143C>G
n.1184C>G
c.670+1322C>G (p.=)
n.358C>G
c.*790C>G (p.=)
n.604C>G
c.929C>G (p.Thr310Arg)
c.784+220C>G (p.=)
n.409+220C>G (p.=)
n.412+220C>G (p.=)
c.*943C>G (p.=)
c.646+220C>G (p.=)
c.119C>G (p.Thr40Arg)
c.5-30573C>G (p.=)
c.-43-20003C>G (p.=)
c.-99+30747C>G (p.=)
c.884C>G (p.Thr295Arg)
ClinVar
17g.43094524G>TCA10600048BRCA1c.1007C>A (p.Thr336Lys)
c.866C>A (p.Thr289Lys)
c.787+220C>A (p.=)
n.1143C>A
n.1184C>A
c.670+1322C>A (p.=)
n.358C>A
c.*790C>A (p.=)
n.604C>A
c.929C>A (p.Thr310Lys)
c.784+220C>A (p.=)
n.409+220C>A (p.=)
n.412+220C>A (p.=)
c.*943C>A (p.=)
c.646+220C>A (p.=)
c.119C>A (p.Thr40Lys)
c.5-30573C>A (p.=)
c.-43-20003C>A (p.=)
c.-99+30747C>A (p.=)
c.884C>A (p.Thr295Lys)
17g.43094524_43094587delCA10589974BRCA1c.944_1007del (p.Arg315LysfsTer5)
c.803_866del (p.Arg268LysfsTer5)
c.787+157_787+220del (p.=)
n.1080_1143del
n.1121_1184del
c.670+1259_670+1322del (p.=)
n.295_358del
c.*727_*790del (p.=)
n.541_604del
c.866_929del (p.Arg289LysfsTer5)
c.784+157_784+220del (p.=)
n.409+157_409+220del (p.=)
n.412+157_412+220del (p.=)
c.*880_*943del (p.=)
c.646+157_646+220del (p.=)
c.56_119del (p.Arg19LysfsTer5)
c.4+30595_5-30573del (p.=)
c.-43-20066_-43-20003del (p.=)
c.-99+30684_-99+30747del (p.=)
c.821_884del (p.Arg274LysfsTer5)
ClinVar dbSNP
17g.43094525T>ACA10600049BRCA1c.1006A>T (p.Thr336Ser)
c.865A>T (p.Thr289Ser)
c.787+219A>T (p.=)
n.1142A>T
n.1183A>T
c.670+1321A>T (p.=)
n.357A>T
c.*789A>T (p.=)
n.603A>T
c.928A>T (p.Thr310Ser)
c.784+219A>T (p.=)
n.409+219A>T (p.=)
n.412+219A>T (p.=)
c.*942A>T (p.=)
c.646+219A>T (p.=)
c.118A>T (p.Thr40Ser)
c.5-30574A>T (p.=)
c.-43-20004A>T (p.=)
c.-99+30746A>T (p.=)
c.883A>T (p.Thr295Ser)
17g.43094525T>CCA10600050BRCA1c.1006A>G (p.Thr336Ala)
c.865A>G (p.Thr289Ala)
c.787+219A>G (p.=)
n.1142A>G
n.1183A>G
c.670+1321A>G (p.=)
n.357A>G
c.*789A>G (p.=)
n.603A>G
c.928A>G (p.Thr310Ala)
c.784+219A>G (p.=)
n.409+219A>G (p.=)
n.412+219A>G (p.=)
c.*942A>G (p.=)
c.646+219A>G (p.=)
c.118A>G (p.Thr40Ala)
c.5-30574A>G (p.=)
c.-43-20004A>G (p.=)
c.-99+30746A>G (p.=)
c.883A>G (p.Thr295Ala)
17g.43094525T>GCA10600051BRCA1c.1006A>C (p.Thr336Pro)
c.865A>C (p.Thr289Pro)
c.787+219A>C (p.=)
n.1142A>C
n.1183A>C
c.670+1321A>C (p.=)
n.357A>C
c.*789A>C (p.=)
n.603A>C
c.928A>C (p.Thr310Pro)
c.784+219A>C (p.=)
n.409+219A>C (p.=)
n.412+219A>C (p.=)
c.*942A>C (p.=)
c.646+219A>C (p.=)
c.118A>C (p.Thr40Pro)
c.5-30574A>C (p.=)
c.-43-20004A>C (p.=)
c.-99+30746A>C (p.=)
c.883A>C (p.Thr295Pro)
17g.43094526G>ACA500234041BRCA1c.1005C>T (p.Ser335=)
c.864C>T (p.Ser288=)
c.787+218C>T (p.=)
n.1141C>T
n.1182C>T
c.670+1320C>T (p.=)
n.356C>T
c.*788C>T (p.=)
n.602C>T
c.927C>T (p.Ser309=)
c.784+218C>T (p.=)
n.409+218C>T (p.=)
n.412+218C>T (p.=)
c.*941C>T (p.=)
c.646+218C>T (p.=)
c.117C>T (p.Ser39=)
c.5-30575C>T (p.=)
c.-43-20005C>T (p.=)
c.-99+30745C>T (p.=)
c.882C>T (p.Ser294=)
17g.43094526G>CCA10600052BRCA1c.1005C>G (p.Ser335Arg)
c.864C>G (p.Ser288Arg)
c.787+218C>G (p.=)
n.1141C>G
n.1182C>G
c.670+1320C>G (p.=)
n.356C>G
c.*788C>G (p.=)
n.602C>G
c.927C>G (p.Ser309Arg)
c.784+218C>G (p.=)
n.409+218C>G (p.=)
n.412+218C>G (p.=)
c.*941C>G (p.=)
c.646+218C>G (p.=)
c.117C>G (p.Ser39Arg)
c.5-30575C>G (p.=)
c.-43-20005C>G (p.=)
c.-99+30745C>G (p.=)
c.882C>G (p.Ser294Arg)
17g.43094526G>TCA10580685BRCA1c.1005C>A (p.Ser335Arg)
c.864C>A (p.Ser288Arg)
c.787+218C>A (p.=)
n.1141C>A
n.1182C>A
c.670+1320C>A (p.=)
n.356C>A
c.*788C>A (p.=)
n.602C>A
c.927C>A (p.Ser309Arg)
c.784+218C>A (p.=)
n.409+218C>A (p.=)
n.412+218C>A (p.=)
c.*941C>A (p.=)
c.646+218C>A (p.=)
c.117C>A (p.Ser39Arg)
c.5-30575C>A (p.=)
c.-43-20005C>A (p.=)
c.-99+30745C>A (p.=)
c.882C>A (p.Ser294Arg)
ClinVar dbSNP
17g.43094527C>ACA10600053BRCA1c.1004G>T (p.Ser335Ile)
c.863G>T (p.Ser288Ile)
c.787+217G>T (p.=)
n.1140G>T
n.1181G>T
c.670+1319G>T (p.=)
n.355G>T
c.*787G>T (p.=)
n.601G>T
c.926G>T (p.Ser309Ile)
c.784+217G>T (p.=)
n.409+217G>T (p.=)
n.412+217G>T (p.=)
c.*940G>T (p.=)
c.646+217G>T (p.=)
c.116G>T (p.Ser39Ile)
c.5-30576G>T (p.=)
c.-43-20006G>T (p.=)
c.-99+30744G>T (p.=)
c.881G>T (p.Ser294Ile)
COSMIC COSMIC
17g.43094527C>GCA10600054BRCA1c.1004G>C (p.Ser335Thr)
c.863G>C (p.Ser288Thr)
c.787+217G>C (p.=)
n.1140G>C
n.1181G>C
c.670+1319G>C (p.=)
n.355G>C
c.*787G>C (p.=)
n.601G>C
c.926G>C (p.Ser309Thr)
c.784+217G>C (p.=)
n.409+217G>C (p.=)
n.412+217G>C (p.=)
c.*940G>C (p.=)
c.646+217G>C (p.=)
c.116G>C (p.Ser39Thr)
c.5-30576G>C (p.=)
c.-43-20006G>C (p.=)
c.-99+30744G>C (p.=)
c.881G>C (p.Ser294Thr)
17g.43094527C>TCA10600055BRCA1c.1004G>A (p.Ser335Asn)
c.863G>A (p.Ser288Asn)
c.787+217G>A (p.=)
n.1140G>A
n.1181G>A
c.670+1319G>A (p.=)
n.355G>A
c.*787G>A (p.=)
n.601G>A
c.926G>A (p.Ser309Asn)
c.784+217G>A (p.=)
n.409+217G>A (p.=)
n.412+217G>A (p.=)
c.*940G>A (p.=)
c.646+217G>A (p.=)
c.116G>A (p.Ser39Asn)
c.5-30576G>A (p.=)
c.-43-20006G>A (p.=)
c.-99+30744G>A (p.=)
c.881G>A (p.Ser294Asn)
COSMIC COSMIC
17g.43094528T>ACA10600056BRCA1c.1003A>T (p.Ser335Cys)
c.862A>T (p.Ser288Cys)
c.787+216A>T (p.=)
n.1139A>T
n.1180A>T
c.670+1318A>T (p.=)
n.354A>T
c.*786A>T (p.=)
n.600A>T
c.925A>T (p.Ser309Cys)
c.784+216A>T (p.=)
n.409+216A>T (p.=)
n.412+216A>T (p.=)
c.*939A>T (p.=)
c.646+216A>T (p.=)
c.115A>T (p.Ser39Cys)
c.5-30577A>T (p.=)
c.-43-20007A>T (p.=)
c.-99+30743A>T (p.=)
c.880A>T (p.Ser294Cys)
17g.43094528T>CCA10600057BRCA1c.1003A>G (p.Ser335Gly)
c.862A>G (p.Ser288Gly)
c.787+216A>G (p.=)
n.1139A>G
n.1180A>G
c.670+1318A>G (p.=)
n.354A>G
c.*786A>G (p.=)
n.600A>G
c.925A>G (p.Ser309Gly)
c.784+216A>G (p.=)
n.409+216A>G (p.=)
n.412+216A>G (p.=)
c.*939A>G (p.=)
c.646+216A>G (p.=)
c.115A>G (p.Ser39Gly)
c.5-30577A>G (p.=)
c.-43-20007A>G (p.=)
c.-99+30743A>G (p.=)
c.880A>G (p.Ser294Gly)
17g.43094528T>GCA10600058BRCA1c.1003A>C (p.Ser335Arg)
c.862A>C (p.Ser288Arg)
c.787+216A>C (p.=)
n.1139A>C
n.1180A>C
c.670+1318A>C (p.=)
n.354A>C
c.*786A>C (p.=)
n.600A>C
c.925A>C (p.Ser309Arg)
c.784+216A>C (p.=)
n.409+216A>C (p.=)
n.412+216A>C (p.=)
c.*939A>C (p.=)
c.646+216A>C (p.=)
c.115A>C (p.Ser39Arg)
c.5-30577A>C (p.=)
c.-43-20007A>C (p.=)
c.-99+30743A>C (p.=)
c.880A>C (p.Ser294Arg)

Number of alleles fetched