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.43094317G>ACA10599622BRCA1c.1214C>T (p.Ser405Leu)
c.1073C>T (p.Ser358Leu)
c.787+427C>T (p.=)
n.1350C>T
n.1391C>T
c.670+1529C>T (p.=)
n.565C>T
c.*997C>T (p.=)
n.811C>T
c.1136C>T (p.Ser379Leu)
c.784+427C>T (p.=)
n.409+427C>T (p.=)
n.412+427C>T (p.=)
c.*1150C>T (p.=)
c.646+427C>T (p.=)
c.326C>T (p.Ser109Leu)
c.5-30366C>T (p.=)
c.-43-19796C>T (p.=)
c.-99+30954C>T (p.=)
c.1091C>T (p.Ser364Leu)
17g.43094317G>CCA000798BRCA1c.1214C>G (p.Ser405Ter)
c.1073C>G (p.Ser358Ter)
c.787+427C>G (p.=)
n.1350C>G
n.1391C>G
c.670+1529C>G (p.=)
n.565C>G
c.*997C>G (p.=)
n.811C>G
c.1136C>G (p.Ser379Ter)
c.784+427C>G (p.=)
n.409+427C>G (p.=)
n.412+427C>G (p.=)
c.*1150C>G (p.=)
c.646+427C>G (p.=)
c.326C>G (p.Ser109Ter)
c.5-30366C>G (p.=)
c.-43-19796C>G (p.=)
c.-99+30954C>G (p.=)
c.1091C>G (p.Ser364Ter)
ClinVar dbSNP
17g.43094317G>TCA000796BRCA1c.1214C>A (p.Ser405Ter)
c.1073C>A (p.Ser358Ter)
c.787+427C>A (p.=)
n.1350C>A
n.1391C>A
c.670+1529C>A (p.=)
n.565C>A
c.*997C>A (p.=)
n.811C>A
c.1136C>A (p.Ser379Ter)
c.784+427C>A (p.=)
n.409+427C>A (p.=)
n.412+427C>A (p.=)
c.*1150C>A (p.=)
c.646+427C>A (p.=)
c.326C>A (p.Ser109Ter)
c.5-30366C>A (p.=)
c.-43-19796C>A (p.=)
c.-99+30954C>A (p.=)
c.1091C>A (p.Ser364Ter)
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.43094318A>CCA10599623BRCA1c.1213T>G (p.Ser405Ala)
c.1072T>G (p.Ser358Ala)
c.787+426T>G (p.=)
n.1349T>G
n.1390T>G
c.670+1528T>G (p.=)
n.564T>G
c.*996T>G (p.=)
n.810T>G
c.1135T>G (p.Ser379Ala)
c.784+426T>G (p.=)
n.409+426T>G (p.=)
n.412+426T>G (p.=)
c.*1149T>G (p.=)
c.646+426T>G (p.=)
c.325T>G (p.Ser109Ala)
c.5-30367T>G (p.=)
c.-43-19797T>G (p.=)
c.-99+30953T>G (p.=)
c.1090T>G (p.Ser364Ala)
17g.43094318A>GCA10599624BRCA1c.1213T>C (p.Ser405Pro)
c.1072T>C (p.Ser358Pro)
c.787+426T>C (p.=)
n.1349T>C
n.1390T>C
c.670+1528T>C (p.=)
n.564T>C
c.*996T>C (p.=)
n.810T>C
c.1135T>C (p.Ser379Pro)
c.784+426T>C (p.=)
n.409+426T>C (p.=)
n.412+426T>C (p.=)
c.*1149T>C (p.=)
c.646+426T>C (p.=)
c.325T>C (p.Ser109Pro)
c.5-30367T>C (p.=)
c.-43-19797T>C (p.=)
c.-99+30953T>C (p.=)
c.1090T>C (p.Ser364Pro)
17g.43094318A>TCA10599625BRCA1c.1213T>A (p.Ser405Thr)
c.1072T>A (p.Ser358Thr)
c.787+426T>A (p.=)
n.1349T>A
n.1390T>A
c.670+1528T>A (p.=)
n.564T>A
c.*996T>A (p.=)
n.810T>A
c.1135T>A (p.Ser379Thr)
c.784+426T>A (p.=)
n.409+426T>A (p.=)
n.412+426T>A (p.=)
c.*1149T>A (p.=)
c.646+426T>A (p.=)
c.325T>A (p.Ser109Thr)
c.5-30367T>A (p.=)
c.-43-19797T>A (p.=)
c.-99+30953T>A (p.=)
c.1090T>A (p.Ser364Thr)
17g.43094319T>ACA10599626BRCA1c.1212A>T (p.Glu404Asp)
c.1071A>T (p.Glu357Asp)
c.787+425A>T (p.=)
n.1348A>T
n.1389A>T
c.670+1527A>T (p.=)
n.563A>T
c.*995A>T (p.=)
n.809A>T
c.1134A>T (p.Glu378Asp)
c.784+425A>T (p.=)
n.409+425A>T (p.=)
n.412+425A>T (p.=)
c.*1148A>T (p.=)
c.646+425A>T (p.=)
c.324A>T (p.Glu108Asp)
c.5-30368A>T (p.=)
c.-43-19798A>T (p.=)
c.-99+30952A>T (p.=)
c.1089A>T (p.Glu363Asp)
17g.43094319T>CCA16607635BRCA1c.1212A>G (p.Glu404=)
c.1071A>G (p.Glu357=)
c.787+425A>G (p.=)
n.1348A>G
n.1389A>G
c.670+1527A>G (p.=)
n.563A>G
c.*995A>G (p.=)
n.809A>G
c.1134A>G (p.Glu378=)
c.784+425A>G (p.=)
n.409+425A>G (p.=)
n.412+425A>G (p.=)
c.*1148A>G (p.=)
c.646+425A>G (p.=)
c.324A>G (p.Glu108=)
c.5-30368A>G (p.=)
c.-43-19798A>G (p.=)
c.-99+30952A>G (p.=)
c.1089A>G (p.Glu363=)
ClinVar
17g.43094319T>GCA10599627BRCA1c.1212A>C (p.Glu404Asp)
c.1071A>C (p.Glu357Asp)
c.787+425A>C (p.=)
n.1348A>C
n.1389A>C
c.670+1527A>C (p.=)
n.563A>C
c.*995A>C (p.=)
n.809A>C
c.1134A>C (p.Glu378Asp)
c.784+425A>C (p.=)
n.409+425A>C (p.=)
n.412+425A>C (p.=)
c.*1148A>C (p.=)
c.646+425A>C (p.=)
c.324A>C (p.Glu108Asp)
c.5-30368A>C (p.=)
c.-43-19798A>C (p.=)
c.-99+30952A>C (p.=)
c.1089A>C (p.Glu363Asp)
17g.43094319_43094320insAGCA658824534BRCA1c.1211_1212insCT (p.Glu404AspfsTer7)
c.1070_1071insCT (p.Glu357AspfsTer7)
c.787+424_787+425insCT (p.=)
n.1347_1348insCT
n.1388_1389insCT
c.670+1526_670+1527insCT (p.=)
n.562_563insCT
c.*994_*995insCT (p.=)
n.808_809insCT
c.1133_1134insCT (p.Glu378AspfsTer7)
c.784+424_784+425insCT (p.=)
n.409+424_409+425insCT (p.=)
n.412+424_412+425insCT (p.=)
c.*1147_*1148insCT (p.=)
c.646+424_646+425insCT (p.=)
c.323_324insCT (p.Glu108AspfsTer7)
c.5-30369_5-30368insCT (p.=)
c.-43-19799_-43-19798insCT (p.=)
c.-99+30951_-99+30952insCT (p.=)
c.1088_1089insCT (p.Glu363AspfsTer7)
ClinVar dbSNP
17g.43094320T>ACA10599628BRCA1c.1211A>T (p.Glu404Val)
c.1070A>T (p.Glu357Val)
c.787+424A>T (p.=)
n.1347A>T
n.1388A>T
c.670+1526A>T (p.=)
n.562A>T
c.*994A>T (p.=)
n.808A>T
c.1133A>T (p.Glu378Val)
c.784+424A>T (p.=)
n.409+424A>T (p.=)
n.412+424A>T (p.=)
c.*1147A>T (p.=)
c.646+424A>T (p.=)
c.323A>T (p.Glu108Val)
c.5-30369A>T (p.=)
c.-43-19799A>T (p.=)
c.-99+30951A>T (p.=)
c.1088A>T (p.Glu363Val)
17g.43094320T>CCA10599629BRCA1c.1211A>G (p.Glu404Gly)
c.1070A>G (p.Glu357Gly)
c.787+424A>G (p.=)
n.1347A>G
n.1388A>G
c.670+1526A>G (p.=)
n.562A>G
c.*994A>G (p.=)
n.808A>G
c.1133A>G (p.Glu378Gly)
c.784+424A>G (p.=)
n.409+424A>G (p.=)
n.412+424A>G (p.=)
c.*1147A>G (p.=)
c.646+424A>G (p.=)
c.323A>G (p.Glu108Gly)
c.5-30369A>G (p.=)
c.-43-19799A>G (p.=)
c.-99+30951A>G (p.=)
c.1088A>G (p.Glu363Gly)
17g.43094320T>GCA10599630BRCA1c.1211A>C (p.Glu404Ala)
c.1070A>C (p.Glu357Ala)
c.787+424A>C (p.=)
n.1347A>C
n.1388A>C
c.670+1526A>C (p.=)
n.562A>C
c.*994A>C (p.=)
n.808A>C
c.1133A>C (p.Glu378Ala)
c.784+424A>C (p.=)
n.409+424A>C (p.=)
n.412+424A>C (p.=)
c.*1147A>C (p.=)
c.646+424A>C (p.=)
c.323A>C (p.Glu108Ala)
c.5-30369A>C (p.=)
c.-43-19799A>C (p.=)
c.-99+30951A>C (p.=)
c.1088A>C (p.Glu363Ala)
17g.43094320_43094321insAGCA10589959BRCA1c.1210_1211insCT (p.Glu404AlafsTer7)
c.1069_1070insCT (p.Glu357AlafsTer7)
c.787+423_787+424insCT (p.=)
n.1346_1347insCT
n.1387_1388insCT
c.670+1525_670+1526insCT (p.=)
n.561_562insCT
c.*993_*994insCT (p.=)
n.807_808insCT
c.1132_1133insCT (p.Glu378AlafsTer7)
c.784+423_784+424insCT (p.=)
n.409+423_409+424insCT (p.=)
n.412+423_412+424insCT (p.=)
c.*1146_*1147insCT (p.=)
c.646+423_646+424insCT (p.=)
c.322_323insCT (p.Glu108AlafsTer7)
c.5-30370_5-30369insCT (p.=)
c.-43-19800_-43-19799insCT (p.=)
c.-99+30950_-99+30951insCT (p.=)
c.1087_1088insCT (p.Glu363AlafsTer7)
ClinVar dbSNP
17g.43094321C>ACA10599631BRCA1c.1210G>T (p.Glu404Ter)
c.1069G>T (p.Glu357Ter)
c.787+423G>T (p.=)
n.1346G>T
n.1387G>T
c.670+1525G>T (p.=)
n.561G>T
c.*993G>T (p.=)
n.807G>T
c.1132G>T (p.Glu378Ter)
c.784+423G>T (p.=)
n.409+423G>T (p.=)
n.412+423G>T (p.=)
c.*1146G>T (p.=)
c.646+423G>T (p.=)
c.322G>T (p.Glu108Ter)
c.5-30370G>T (p.=)
c.-43-19800G>T (p.=)
c.-99+30950G>T (p.=)
c.1087G>T (p.Glu363Ter)
17g.43094321C>GCA057098BRCA1c.1210G>C (p.Glu404Gln)
c.1069G>C (p.Glu357Gln)
c.787+423G>C (p.=)
n.1346G>C
n.1387G>C
c.670+1525G>C (p.=)
n.561G>C
c.*993G>C (p.=)
n.807G>C
c.1132G>C (p.Glu378Gln)
c.784+423G>C (p.=)
n.409+423G>C (p.=)
n.412+423G>C (p.=)
c.*1146G>C (p.=)
c.646+423G>C (p.=)
c.322G>C (p.Glu108Gln)
c.5-30370G>C (p.=)
c.-43-19800G>C (p.=)
c.-99+30950G>C (p.=)
c.1087G>C (p.Glu363Gln)
dbSNP ExAC
17g.43094321C>TCA10599632BRCA1c.1210G>A (p.Glu404Lys)
c.1069G>A (p.Glu357Lys)
c.787+423G>A (p.=)
n.1346G>A
n.1387G>A
c.670+1525G>A (p.=)
n.561G>A
c.*993G>A (p.=)
n.807G>A
c.1132G>A (p.Glu378Lys)
c.784+423G>A (p.=)
n.409+423G>A (p.=)
n.412+423G>A (p.=)
c.*1146G>A (p.=)
c.646+423G>A (p.=)
c.322G>A (p.Glu108Lys)
c.5-30370G>A (p.=)
c.-43-19800G>A (p.=)
c.-99+30950G>A (p.=)
c.1087G>A (p.Glu363Lys)
17g.43094321_43094322delCA10589960BRCA1c.1209_1210del (p.Glu404IlefsTer7)
c.1068_1069del (p.Glu357IlefsTer7)
c.787+422_787+423del (p.=)
n.1345_1346del
n.1386_1387del
c.670+1524_670+1525del (p.=)
n.560_561del
c.*992_*993del (p.=)
n.806_807del
c.1131_1132del (p.Glu378IlefsTer7)
c.784+422_784+423del (p.=)
n.409+422_409+423del (p.=)
n.412+422_412+423del (p.=)
c.*1145_*1146del (p.=)
c.646+422_646+423del (p.=)
c.321_322del (p.Glu108IlefsTer7)
c.5-30371_5-30370del (p.=)
c.-43-19801_-43-19800del (p.=)
c.-99+30949_-99+30950del (p.=)
c.1086_1087del (p.Glu363IlefsTer7)
ClinVar dbSNP
17g.43094322delCA913188896BRCA1c.1209del (p.Glu404AsnfsTer6)
c.1068del (p.Glu357AsnfsTer6)
c.787+422del (p.=)
n.1345del
n.1386del
c.670+1524del (p.=)
n.560del
c.*992del (p.=)
n.806del
c.1131del (p.Glu378AsnfsTer6)
c.784+422del (p.=)
n.409+422del (p.=)
n.412+422del (p.=)
c.*1145del (p.=)
c.646+422del (p.=)
c.321del (p.Glu108AsnfsTer6)
c.5-30371del (p.=)
c.-43-19801del (p.=)
c.-99+30949del (p.=)
c.1086del (p.Glu363AsnfsTer6)
ClinVar dbSNP
17g.43094322A>CCA500233565BRCA1c.1209T>G (p.Ser403=)
c.1068T>G (p.Ser356=)
c.787+422T>G (p.=)
n.1345T>G
n.1386T>G
c.670+1524T>G (p.=)
n.560T>G
c.*992T>G (p.=)
n.806T>G
c.1131T>G (p.Ser377=)
c.784+422T>G (p.=)
n.409+422T>G (p.=)
n.412+422T>G (p.=)
c.*1145T>G (p.=)
c.646+422T>G (p.=)
c.321T>G (p.Ser107=)
c.5-30371T>G (p.=)
c.-43-19801T>G (p.=)
c.-99+30949T>G (p.=)
c.1086T>G (p.Ser362=)
17g.43094322A>GCA057092BRCA1c.1209T>C (p.Ser403=)
c.1068T>C (p.Ser356=)
c.787+422T>C (p.=)
n.1345T>C
n.1386T>C
c.670+1524T>C (p.=)
n.560T>C
c.*992T>C (p.=)
n.806T>C
c.1131T>C (p.Ser377=)
c.784+422T>C (p.=)
n.409+422T>C (p.=)
n.412+422T>C (p.=)
c.*1145T>C (p.=)
c.646+422T>C (p.=)
c.321T>C (p.Ser107=)
c.5-30371T>C (p.=)
c.-43-19801T>C (p.=)
c.-99+30949T>C (p.=)
c.1086T>C (p.Ser362=)
ClinVar dbSNP ExAC gnomAD
17g.43094322A>TCA500233566BRCA1c.1209T>A (p.Ser403=)
c.1068T>A (p.Ser356=)
c.787+422T>A (p.=)
n.1345T>A
n.1386T>A
c.670+1524T>A (p.=)
n.560T>A
c.*992T>A (p.=)
n.806T>A
c.1131T>A (p.Ser377=)
c.784+422T>A (p.=)
n.409+422T>A (p.=)
n.412+422T>A (p.=)
c.*1145T>A (p.=)
c.646+422T>A (p.=)
c.321T>A (p.Ser107=)
c.5-30371T>A (p.=)
c.-43-19801T>A (p.=)
c.-99+30949T>A (p.=)
c.1086T>A (p.Ser362=)
17g.43094322dupCA10589961BRCA1c.1209dup (p.Glu404Ter)
c.1068dup (p.Glu357Ter)
c.787+422dup (p.=)
n.1345dup
n.1386dup
c.670+1524dup (p.=)
n.560dup
c.*992dup (p.=)
n.806dup
c.1131dup (p.Glu378Ter)
c.784+422dup (p.=)
n.409+422dup (p.=)
n.412+422dup (p.=)
c.*1145dup (p.=)
c.646+422dup (p.=)
c.321dup (p.Glu108Ter)
c.5-30371dup (p.=)
c.-43-19801dup (p.=)
c.-99+30949dup (p.=)
c.1086dup (p.Glu363Ter)
ClinVar dbSNP
17g.43094323_43094324dupCA658761287BRCA1c.1208_1209dup (p.Glu404LeufsTer7)
c.1067_1068dup (p.Glu357LeufsTer7)
c.787+421_787+422dup (p.=)
n.1344_1345dup
n.1385_1386dup
c.670+1523_670+1524dup (p.=)
n.559_560dup
c.*991_*992dup (p.=)
n.805_806dup
c.1130_1131dup (p.Glu378LeufsTer7)
c.784+421_784+422dup (p.=)
n.409+421_409+422dup (p.=)
n.412+421_412+422dup (p.=)
c.*1144_*1145dup (p.=)
c.646+421_646+422dup (p.=)
c.320_321dup (p.Glu108LeufsTer7)
c.5-30372_5-30371dup (p.=)
c.-43-19802_-43-19801dup (p.=)
c.-99+30948_-99+30949dup (p.=)
c.1085_1086dup (p.Glu363LeufsTer7)
17g.43094323G>ACA000795BRCA1c.1208C>T (p.Ser403Phe)
c.1067C>T (p.Ser356Phe)
c.787+421C>T (p.=)
n.1344C>T
n.1385C>T
c.670+1523C>T (p.=)
n.559C>T
c.*991C>T (p.=)
n.805C>T
c.1130C>T (p.Ser377Phe)
c.784+421C>T (p.=)
n.409+421C>T (p.=)
n.412+421C>T (p.=)
c.*1144C>T (p.=)
c.646+421C>T (p.=)
c.320C>T (p.Ser107Phe)
c.5-30372C>T (p.=)
c.-43-19802C>T (p.=)
c.-99+30948C>T (p.=)
c.1085C>T (p.Ser362Phe)
ClinVar dbSNP
17g.43094323G>CCA10599633BRCA1c.1208C>G (p.Ser403Cys)
c.1067C>G (p.Ser356Cys)
c.787+421C>G (p.=)
n.1344C>G
n.1385C>G
c.670+1523C>G (p.=)
n.559C>G
c.*991C>G (p.=)
n.805C>G
c.1130C>G (p.Ser377Cys)
c.784+421C>G (p.=)
n.409+421C>G (p.=)
n.412+421C>G (p.=)
c.*1144C>G (p.=)
c.646+421C>G (p.=)
c.320C>G (p.Ser107Cys)
c.5-30372C>G (p.=)
c.-43-19802C>G (p.=)
c.-99+30948C>G (p.=)
c.1085C>G (p.Ser362Cys)
17g.43094323G>TCA10599634BRCA1c.1208C>A (p.Ser403Tyr)
c.1067C>A (p.Ser356Tyr)
c.787+421C>A (p.=)
n.1344C>A
n.1385C>A
c.670+1523C>A (p.=)
n.559C>A
c.*991C>A (p.=)
n.805C>A
c.1130C>A (p.Ser377Tyr)
c.784+421C>A (p.=)
n.409+421C>A (p.=)
n.412+421C>A (p.=)
c.*1144C>A (p.=)
c.646+421C>A (p.=)
c.320C>A (p.Ser107Tyr)
c.5-30372C>A (p.=)
c.-43-19802C>A (p.=)
c.-99+30948C>A (p.=)
c.1085C>A (p.Ser362Tyr)
17g.43094324A>CCA10599635BRCA1c.1207T>G (p.Ser403Ala)
c.1066T>G (p.Ser356Ala)
c.787+420T>G (p.=)
n.1343T>G
n.1384T>G
c.670+1522T>G (p.=)
n.558T>G
c.*990T>G (p.=)
n.804T>G
c.1129T>G (p.Ser377Ala)
c.784+420T>G (p.=)
n.409+420T>G (p.=)
n.412+420T>G (p.=)
c.*1143T>G (p.=)
c.646+420T>G (p.=)
c.319T>G (p.Ser107Ala)
c.5-30373T>G (p.=)
c.-43-19803T>G (p.=)
c.-99+30947T>G (p.=)
c.1084T>G (p.Ser362Ala)
ClinVar
17g.43094324A>GCA10599636BRCA1c.1207T>C (p.Ser403Pro)
c.1066T>C (p.Ser356Pro)
c.787+420T>C (p.=)
n.1343T>C
n.1384T>C
c.670+1522T>C (p.=)
n.558T>C
c.*990T>C (p.=)
n.804T>C
c.1129T>C (p.Ser377Pro)
c.784+420T>C (p.=)
n.409+420T>C (p.=)
n.412+420T>C (p.=)
c.*1143T>C (p.=)
c.646+420T>C (p.=)
c.319T>C (p.Ser107Pro)
c.5-30373T>C (p.=)
c.-43-19803T>C (p.=)
c.-99+30947T>C (p.=)
c.1084T>C (p.Ser362Pro)
ClinVar
17g.43094324A>TCA10599637BRCA1c.1207T>A (p.Ser403Thr)
c.1066T>A (p.Ser356Thr)
c.787+420T>A (p.=)
n.1343T>A
n.1384T>A
c.670+1522T>A (p.=)
n.558T>A
c.*990T>A (p.=)
n.804T>A
c.1129T>A (p.Ser377Thr)
c.784+420T>A (p.=)
n.409+420T>A (p.=)
n.412+420T>A (p.=)
c.*1143T>A (p.=)
c.646+420T>A (p.=)
c.319T>A (p.Ser107Thr)
c.5-30373T>A (p.=)
c.-43-19803T>A (p.=)
c.-99+30947T>A (p.=)
c.1084T>A (p.Ser362Thr)
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

Number of alleles fetched