Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43093750_43094886delCA10602596BRCA1c.671-27_1780del
c.530-27_1639del
c.671-27_787+993del
n.807-27_1916del
n.848-27_1957del
c.670+959_670+2095del (p.=)
n.22-27_1131del
c.*454-27_*1563del
c.593-27_1702del
c.668-27_784+993del
n.293-27_409+993del
n.296-27_412+993del
c.530-27_646+993del
c.4+30295_5-29800del (p.=)
c.-43-20366_-43-19230del (p.=)
c.-99+30384_-99+31520del (p.=)
c.548-27_1657del
ClinVar
17g.43094390_43094445delCA000729BRCA1c.1081_1136del (p.Asn363SerfsTer2)
c.940_995del (p.Asn316SerfsTer2)
c.787+294_787+349del (p.=)
n.1217_1272del
n.1258_1313del
c.670+1396_670+1451del (p.=)
n.432_487del
c.*864_*919del (p.=)
n.678_733del
c.1003_1058del (p.Asn337SerfsTer2)
c.784+294_784+349del (p.=)
n.409+294_409+349del (p.=)
n.412+294_412+349del (p.=)
c.*1017_*1072del (p.=)
c.646+294_646+349del (p.=)
c.193_248del (p.Asn67SerfsTer2)
c.5-30499_5-30444del (p.=)
c.-43-19929_-43-19874del (p.=)
c.-99+30821_-99+30876del (p.=)
c.958_1013del (p.Asn322SerfsTer2)
ClinVar dbSNP
17g.43094421delCA645509519BRCA1c.1109del (p.Pro371LeufsTer3)
c.968del (p.Pro324LeufsTer3)
c.787+322del (p.=)
n.1245del
n.1286del
c.670+1424del (p.=)
n.460del
c.*892del (p.=)
n.706del
c.1031del (p.Pro345LeufsTer3)
c.784+322del (p.=)
n.409+322del (p.=)
n.412+322del (p.=)
c.*1045del (p.=)
c.646+322del (p.=)
c.221del (p.Pro75LeufsTer3)
c.5-30471del (p.=)
c.-43-19901del (p.=)
c.-99+30849del (p.=)
c.986del (p.Pro330LeufsTer3)
ClinVar dbSNP
17g.43094422A>CCA10599837BRCA1c.1109T>G (p.Val370Gly)
c.968T>G (p.Val323Gly)
c.787+322T>G (p.=)
n.1245T>G
n.1286T>G
c.670+1424T>G (p.=)
n.460T>G
c.*892T>G (p.=)
n.706T>G
c.1031T>G (p.Val344Gly)
c.784+322T>G (p.=)
n.409+322T>G (p.=)
n.412+322T>G (p.=)
c.*1045T>G (p.=)
c.646+322T>G (p.=)
c.221T>G (p.Val74Gly)
c.5-30471T>G (p.=)
c.-43-19901T>G (p.=)
c.-99+30849T>G (p.=)
c.986T>G (p.Val329Gly)
17g.43094422A>GCA10599838BRCA1c.1109T>C (p.Val370Ala)
c.968T>C (p.Val323Ala)
c.787+322T>C (p.=)
n.1245T>C
n.1286T>C
c.670+1424T>C (p.=)
n.460T>C
c.*892T>C (p.=)
n.706T>C
c.1031T>C (p.Val344Ala)
c.784+322T>C (p.=)
n.409+322T>C (p.=)
n.412+322T>C (p.=)
c.*1045T>C (p.=)
c.646+322T>C (p.=)
c.221T>C (p.Val74Ala)
c.5-30471T>C (p.=)
c.-43-19901T>C (p.=)
c.-99+30849T>C (p.=)
c.986T>C (p.Val329Ala)
17g.43094422A>TCA10599839BRCA1c.1109T>A (p.Val370Asp)
c.968T>A (p.Val323Asp)
c.787+322T>A (p.=)
n.1245T>A
n.1286T>A
c.670+1424T>A (p.=)
n.460T>A
c.*892T>A (p.=)
n.706T>A
c.1031T>A (p.Val344Asp)
c.784+322T>A (p.=)
n.409+322T>A (p.=)
n.412+322T>A (p.=)
c.*1045T>A (p.=)
c.646+322T>A (p.=)
c.221T>A (p.Val74Asp)
c.5-30471T>A (p.=)
c.-43-19901T>A (p.=)
c.-99+30849T>A (p.=)
c.986T>A (p.Val329Asp)
17g.43094423C>ACA10599840BRCA1c.1108G>T (p.Val370Phe)
c.967G>T (p.Val323Phe)
c.787+321G>T (p.=)
n.1244G>T
n.1285G>T
c.670+1423G>T (p.=)
n.459G>T
c.*891G>T (p.=)
n.705G>T
c.1030G>T (p.Val344Phe)
c.784+321G>T (p.=)
n.409+321G>T (p.=)
n.412+321G>T (p.=)
c.*1044G>T (p.=)
c.646+321G>T (p.=)
c.220G>T (p.Val74Phe)
c.5-30472G>T (p.=)
c.-43-19902G>T (p.=)
c.-99+30848G>T (p.=)
c.985G>T (p.Val329Phe)
17g.43094423C>GCA10599841BRCA1c.1108G>C (p.Val370Leu)
c.967G>C (p.Val323Leu)
c.787+321G>C (p.=)
n.1244G>C
n.1285G>C
c.670+1423G>C (p.=)
n.459G>C
c.*891G>C (p.=)
n.705G>C
c.1030G>C (p.Val344Leu)
c.784+321G>C (p.=)
n.409+321G>C (p.=)
n.412+321G>C (p.=)
c.*1044G>C (p.=)
c.646+321G>C (p.=)
c.220G>C (p.Val74Leu)
c.5-30472G>C (p.=)
c.-43-19902G>C (p.=)
c.-99+30848G>C (p.=)
c.985G>C (p.Val329Leu)
ClinVar
17g.43094423C>TCA10599842BRCA1c.1108G>A (p.Val370Ile)
c.967G>A (p.Val323Ile)
c.787+321G>A (p.=)
n.1244G>A
n.1285G>A
c.670+1423G>A (p.=)
n.459G>A
c.*891G>A (p.=)
n.705G>A
c.1030G>A (p.Val344Ile)
c.784+321G>A (p.=)
n.409+321G>A (p.=)
n.412+321G>A (p.=)
c.*1044G>A (p.=)
c.646+321G>A (p.=)
c.220G>A (p.Val74Ile)
c.5-30472G>A (p.=)
c.-43-19902G>A (p.=)
c.-99+30848G>A (p.=)
c.985G>A (p.Val329Ile)
ClinVar COSMIC
17g.43094423_43094425delCA000737BRCA1c.1105_1107del (p.Asp369del)
c.964_966del (p.Asp322del)
c.787+318_787+320del (p.=)
n.1241_1243del
n.1282_1284del
c.670+1420_670+1422del (p.=)
n.456_458del
c.*888_*890del (p.=)
n.702_704del
c.1027_1029del (p.Asp343del)
c.784+318_784+320del (p.=)
n.409+318_409+320del (p.=)
n.412+318_412+320del (p.=)
c.*1041_*1043del (p.=)
c.646+318_646+320del (p.=)
c.217_219del (p.Asp73del)
c.5-30475_5-30473del (p.=)
c.-43-19905_-43-19903del (p.=)
c.-99+30845_-99+30847del (p.=)
c.982_984del (p.Asp328del)
ClinVar dbSNP dbSNP ExAC gnomAD
17g.43094423_43094424insGACA916084306BRCA1c.1107_1108insTC (p.Val370SerfsTer5)
c.966_967insTC (p.Val323SerfsTer5)
c.787+320_787+321insTC (p.=)
n.1243_1244insTC
n.1284_1285insTC
c.670+1422_670+1423insTC (p.=)
n.458_459insTC
c.*890_*891insTC (p.=)
n.704_705insTC
c.1029_1030insTC (p.Val344SerfsTer5)
c.784+320_784+321insTC (p.=)
n.409+320_409+321insTC (p.=)
n.412+320_412+321insTC (p.=)
c.*1043_*1044insTC (p.=)
c.646+320_646+321insTC (p.=)
c.219_220insTC (p.Val74SerfsTer5)
c.5-30473_5-30472insTC (p.=)
c.-43-19903_-43-19902insTC (p.=)
c.-99+30847_-99+30848insTC (p.=)
c.984_985insTC (p.Val329SerfsTer5)
17g.43094424A>CCA10599843BRCA1c.1107T>G (p.Asp369Glu)
c.966T>G (p.Asp322Glu)
c.787+320T>G (p.=)
n.1243T>G
n.1284T>G
c.670+1422T>G (p.=)
n.458T>G
c.*890T>G (p.=)
n.704T>G
c.1029T>G (p.Asp343Glu)
c.784+320T>G (p.=)
n.409+320T>G (p.=)
n.412+320T>G (p.=)
c.*1043T>G (p.=)
c.646+320T>G (p.=)
c.219T>G (p.Asp73Glu)
c.5-30473T>G (p.=)
c.-43-19903T>G (p.=)
c.-99+30847T>G (p.=)
c.984T>G (p.Asp328Glu)
17g.43094424A>GCA500233988BRCA1c.1107T>C (p.Asp369=)
c.966T>C (p.Asp322=)
c.787+320T>C (p.=)
n.1243T>C
n.1284T>C
c.670+1422T>C (p.=)
n.458T>C
c.*890T>C (p.=)
n.704T>C
c.1029T>C (p.Asp343=)
c.784+320T>C (p.=)
n.409+320T>C (p.=)
n.412+320T>C (p.=)
c.*1043T>C (p.=)
c.646+320T>C (p.=)
c.219T>C (p.Asp73=)
c.5-30473T>C (p.=)
c.-43-19903T>C (p.=)
c.-99+30847T>C (p.=)
c.984T>C (p.Asp328=)
17g.43094424A>TCA10599844BRCA1c.1107T>A (p.Asp369Glu)
c.966T>A (p.Asp322Glu)
c.787+320T>A (p.=)
n.1243T>A
n.1284T>A
c.670+1422T>A (p.=)
n.458T>A
c.*890T>A (p.=)
n.704T>A
c.1029T>A (p.Asp343Glu)
c.784+320T>A (p.=)
n.409+320T>A (p.=)
n.412+320T>A (p.=)
c.*1043T>A (p.=)
c.646+320T>A (p.=)
c.219T>A (p.Asp73Glu)
c.5-30473T>A (p.=)
c.-43-19903T>A (p.=)
c.-99+30847T>A (p.=)
c.984T>A (p.Asp328Glu)
17g.43094423_43094424insAGCA658824537BRCA1c.1106_1107insTC (p.Val370LeufsTer5)
c.965_966insTC (p.Val323LeufsTer5)
c.787+319_787+320insTC (p.=)
n.1242_1243insTC
n.1283_1284insTC
c.670+1421_670+1422insTC (p.=)
n.457_458insTC
c.*889_*890insTC (p.=)
n.703_704insTC
c.1028_1029insTC (p.Val344LeufsTer5)
c.784+319_784+320insTC (p.=)
n.409+319_409+320insTC (p.=)
n.412+319_412+320insTC (p.=)
c.*1042_*1043insTC (p.=)
c.646+319_646+320insTC (p.=)
c.218_219insTC (p.Val74LeufsTer5)
c.5-30474_5-30473insTC (p.=)
c.-43-19904_-43-19903insTC (p.=)
c.-99+30846_-99+30847insTC (p.=)
c.983_984insTC (p.Val329LeufsTer5)
ClinVar dbSNP
17g.43094425T>ACA10599845BRCA1c.1106A>T (p.Asp369Val)
c.965A>T (p.Asp322Val)
c.787+319A>T (p.=)
n.1242A>T
n.1283A>T
c.670+1421A>T (p.=)
n.457A>T
c.*889A>T (p.=)
n.703A>T
c.1028A>T (p.Asp343Val)
c.784+319A>T (p.=)
n.409+319A>T (p.=)
n.412+319A>T (p.=)
c.*1042A>T (p.=)
c.646+319A>T (p.=)
c.218A>T (p.Asp73Val)
c.5-30474A>T (p.=)
c.-43-19904A>T (p.=)
c.-99+30846A>T (p.=)
c.983A>T (p.Asp328Val)
ClinVar
17g.43094425T>CCA000740BRCA1c.1106A>G (p.Asp369Gly)
c.965A>G (p.Asp322Gly)
c.787+319A>G (p.=)
n.1242A>G
n.1283A>G
c.670+1421A>G (p.=)
n.457A>G
c.*889A>G (p.=)
n.703A>G
c.1028A>G (p.Asp343Gly)
c.784+319A>G (p.=)
n.409+319A>G (p.=)
n.412+319A>G (p.=)
c.*1042A>G (p.=)
c.646+319A>G (p.=)
c.218A>G (p.Asp73Gly)
c.5-30474A>G (p.=)
c.-43-19904A>G (p.=)
c.-99+30846A>G (p.=)
c.983A>G (p.Asp328Gly)
ClinVar dbSNP
17g.43094425T>GCA10599846BRCA1c.1106A>C (p.Asp369Ala)
c.965A>C (p.Asp322Ala)
c.787+319A>C (p.=)
n.1242A>C
n.1283A>C
c.670+1421A>C (p.=)
n.457A>C
c.*889A>C (p.=)
n.703A>C
c.1028A>C (p.Asp343Ala)
c.784+319A>C (p.=)
n.409+319A>C (p.=)
n.412+319A>C (p.=)
c.*1042A>C (p.=)
c.646+319A>C (p.=)
c.218A>C (p.Asp73Ala)
c.5-30474A>C (p.=)
c.-43-19904A>C (p.=)
c.-99+30846A>C (p.=)
c.983A>C (p.Asp328Ala)
17g.43094425_43094426insGACA10580680BRCA1c.1105_1106insTC (p.Asp369ValfsTer6)
c.964_965insTC (p.Asp322ValfsTer6)
c.787+318_787+319insTC (p.=)
n.1241_1242insTC
n.1282_1283insTC
c.670+1420_670+1421insTC (p.=)
n.456_457insTC
c.*888_*889insTC (p.=)
n.702_703insTC
c.1027_1028insTC (p.Asp343ValfsTer6)
c.784+318_784+319insTC (p.=)
n.409+318_409+319insTC (p.=)
n.412+318_412+319insTC (p.=)
c.*1041_*1042insTC (p.=)
c.646+318_646+319insTC (p.=)
c.217_218insTC (p.Asp73ValfsTer6)
c.5-30475_5-30474insTC (p.=)
c.-43-19905_-43-19904insTC (p.=)
c.-99+30845_-99+30846insTC (p.=)
c.982_983insTC (p.Asp328ValfsTer6)
ClinVar dbSNP
17g.43094426C>ACA10599847BRCA1c.1105G>T (p.Asp369Tyr)
c.964G>T (p.Asp322Tyr)
c.787+318G>T (p.=)
n.1241G>T
n.1282G>T
c.670+1420G>T (p.=)
n.456G>T
c.*888G>T (p.=)
n.702G>T
c.1027G>T (p.Asp343Tyr)
c.784+318G>T (p.=)
n.409+318G>T (p.=)
n.412+318G>T (p.=)
c.*1041G>T (p.=)
c.646+318G>T (p.=)
c.217G>T (p.Asp73Tyr)
c.5-30475G>T (p.=)
c.-43-19905G>T (p.=)
c.-99+30845G>T (p.=)
c.982G>T (p.Asp328Tyr)
17g.43094426C>GCA10599848BRCA1c.1105G>C (p.Asp369His)
c.964G>C (p.Asp322His)
c.787+318G>C (p.=)
n.1241G>C
n.1282G>C
c.670+1420G>C (p.=)
n.456G>C
c.*888G>C (p.=)
n.702G>C
c.1027G>C (p.Asp343His)
c.784+318G>C (p.=)
n.409+318G>C (p.=)
n.412+318G>C (p.=)
c.*1041G>C (p.=)
c.646+318G>C (p.=)
c.217G>C (p.Asp73His)
c.5-30475G>C (p.=)
c.-43-19905G>C (p.=)
c.-99+30845G>C (p.=)
c.982G>C (p.Asp328His)
17g.43094426C>TCA000738BRCA1c.1105G>A (p.Asp369Asn)
c.964G>A (p.Asp322Asn)
c.787+318G>A (p.=)
n.1241G>A
n.1282G>A
c.670+1420G>A (p.=)
n.456G>A
c.*888G>A (p.=)
n.702G>A
c.1027G>A (p.Asp343Asn)
c.784+318G>A (p.=)
n.409+318G>A (p.=)
n.412+318G>A (p.=)
c.*1041G>A (p.=)
c.646+318G>A (p.=)
c.217G>A (p.Asp73Asn)
c.5-30475G>A (p.=)
c.-43-19905G>A (p.=)
c.-99+30845G>A (p.=)
c.982G>A (p.Asp328Asn)
ClinVar dbSNP ExAC gnomAD
17g.43094426dupCA10586658BRCA1c.1105dup (p.Asp369GlyfsTer9)
c.964dup (p.Asp322GlyfsTer9)
c.787+318dup (p.=)
n.1241dup
n.1282dup
c.670+1420dup (p.=)
n.456dup
c.*888dup (p.=)
n.702dup
c.1027dup (p.Asp343GlyfsTer9)
c.784+318dup (p.=)
n.409+318dup (p.=)
n.412+318dup (p.=)
c.*1041dup (p.=)
c.646+318dup (p.=)
c.217dup (p.Asp73GlyfsTer9)
c.5-30475dup (p.=)
c.-43-19905dup (p.=)
c.-99+30845dup (p.=)
c.982dup (p.Asp328GlyfsTer9)
ClinVar dbSNP dbSNP
17g.43094427T>ACA10599849BRCA1c.1104A>T (p.Glu368Asp)
c.963A>T (p.Glu321Asp)
c.787+317A>T (p.=)
n.1240A>T
n.1281A>T
c.670+1419A>T (p.=)
n.455A>T
c.*887A>T (p.=)
n.701A>T
c.1026A>T (p.Glu342Asp)
c.784+317A>T (p.=)
n.409+317A>T (p.=)
n.412+317A>T (p.=)
c.*1040A>T (p.=)
c.646+317A>T (p.=)
c.216A>T (p.Glu72Asp)
c.5-30476A>T (p.=)
c.-43-19906A>T (p.=)
c.-99+30844A>T (p.=)
c.981A>T (p.Glu327Asp)
17g.43094427T>CCA500233989BRCA1c.1104A>G (p.Glu368=)
c.963A>G (p.Glu321=)
c.787+317A>G (p.=)
n.1240A>G
n.1281A>G
c.670+1419A>G (p.=)
n.455A>G
c.*887A>G (p.=)
n.701A>G
c.1026A>G (p.Glu342=)
c.784+317A>G (p.=)
n.409+317A>G (p.=)
n.412+317A>G (p.=)
c.*1040A>G (p.=)
c.646+317A>G (p.=)
c.216A>G (p.Glu72=)
c.5-30476A>G (p.=)
c.-43-19906A>G (p.=)
c.-99+30844A>G (p.=)
c.981A>G (p.Glu327=)
17g.43094427T>GCA10599850BRCA1c.1104A>C (p.Glu368Asp)
c.963A>C (p.Glu321Asp)
c.787+317A>C (p.=)
n.1240A>C
n.1281A>C
c.670+1419A>C (p.=)
n.455A>C
c.*887A>C (p.=)
n.701A>C
c.1026A>C (p.Glu342Asp)
c.784+317A>C (p.=)
n.409+317A>C (p.=)
n.412+317A>C (p.=)
c.*1040A>C (p.=)
c.646+317A>C (p.=)
c.216A>C (p.Glu72Asp)
c.5-30476A>C (p.=)
c.-43-19906A>C (p.=)
c.-99+30844A>C (p.=)
c.981A>C (p.Glu327Asp)
17g.43094427delCA10589967BRCA1c.1103del (p.Asp369MetfsTer5)
c.962del (p.Asp322MetfsTer5)
c.787+316del (p.=)
n.1239del
n.1280del
c.670+1418del (p.=)
n.454del
c.*886del (p.=)
n.700del
c.1025del (p.Asp343MetfsTer5)
c.784+316del (p.=)
n.409+316del (p.=)
n.412+316del (p.=)
c.*1039del (p.=)
c.646+316del (p.=)
c.215del (p.Asp73MetfsTer5)
c.5-30477del (p.=)
c.-43-19907del (p.=)
c.-99+30843del (p.=)
c.980del (p.Asp328MetfsTer5)
ClinVar dbSNP
17g.43094428T>ACA10599851BRCA1c.1103A>T (p.Glu368Val)
c.962A>T (p.Glu321Val)
c.787+316A>T (p.=)
n.1239A>T
n.1280A>T
c.670+1418A>T (p.=)
n.454A>T
c.*886A>T (p.=)
n.700A>T
c.1025A>T (p.Glu342Val)
c.784+316A>T (p.=)
n.409+316A>T (p.=)
n.412+316A>T (p.=)
c.*1039A>T (p.=)
c.646+316A>T (p.=)
c.215A>T (p.Glu72Val)
c.5-30477A>T (p.=)
c.-43-19907A>T (p.=)
c.-99+30843A>T (p.=)
c.980A>T (p.Glu327Val)
17g.43094428T>CCA10599852BRCA1c.1103A>G (p.Glu368Gly)
c.962A>G (p.Glu321Gly)
c.787+316A>G (p.=)
n.1239A>G
n.1280A>G
c.670+1418A>G (p.=)
n.454A>G
c.*886A>G (p.=)
n.700A>G
c.1025A>G (p.Glu342Gly)
c.784+316A>G (p.=)
n.409+316A>G (p.=)
n.412+316A>G (p.=)
c.*1039A>G (p.=)
c.646+316A>G (p.=)
c.215A>G (p.Glu72Gly)
c.5-30477A>G (p.=)
c.-43-19907A>G (p.=)
c.-99+30843A>G (p.=)
c.980A>G (p.Glu327Gly)
COSMIC COSMIC
17g.43094428T>GCA10599853BRCA1c.1103A>C (p.Glu368Ala)
c.962A>C (p.Glu321Ala)
c.787+316A>C (p.=)
n.1239A>C
n.1280A>C
c.670+1418A>C (p.=)
n.454A>C
c.*886A>C (p.=)
n.700A>C
c.1025A>C (p.Glu342Ala)
c.784+316A>C (p.=)
n.409+316A>C (p.=)
n.412+316A>C (p.=)
c.*1039A>C (p.=)
c.646+316A>C (p.=)
c.215A>C (p.Glu72Ala)
c.5-30477A>C (p.=)
c.-43-19907A>C (p.=)
c.-99+30843A>C (p.=)
c.980A>C (p.Glu327Ala)
17g.43094428_43094429insGCA658824538BRCA1c.1102_1103insC (p.Glu368AlafsTer10)
c.961_962insC (p.Glu321AlafsTer10)
c.787+315_787+316insC (p.=)
n.1238_1239insC
n.1279_1280insC
c.670+1417_670+1418insC (p.=)
n.453_454insC
c.*885_*886insC (p.=)
n.699_700insC
c.1024_1025insC (p.Glu342AlafsTer10)
c.784+315_784+316insC (p.=)
n.409+315_409+316insC (p.=)
n.412+315_412+316insC (p.=)
c.*1038_*1039insC (p.=)
c.646+315_646+316insC (p.=)
c.214_215insC (p.Glu72AlafsTer10)
c.5-30478_5-30477insC (p.=)
c.-43-19908_-43-19907insC (p.=)
c.-99+30842_-99+30843insC (p.=)
c.979_980insC (p.Glu327AlafsTer10)
ClinVar dbSNP
17g.43094429C>ACA000736BRCA1c.1102G>T (p.Glu368Ter)
c.961G>T (p.Glu321Ter)
c.787+315G>T (p.=)
n.1238G>T
n.1279G>T
c.670+1417G>T (p.=)
n.453G>T
c.*885G>T (p.=)
n.699G>T
c.1024G>T (p.Glu342Ter)
c.784+315G>T (p.=)
n.409+315G>T (p.=)
n.412+315G>T (p.=)
c.*1038G>T (p.=)
c.646+315G>T (p.=)
c.214G>T (p.Glu72Ter)
c.5-30478G>T (p.=)
c.-43-19908G>T (p.=)
c.-99+30842G>T (p.=)
c.979G>T (p.Glu327Ter)
ClinVar dbSNP
17g.43094429C>GCA10599854BRCA1c.1102G>C (p.Glu368Gln)
c.961G>C (p.Glu321Gln)
c.787+315G>C (p.=)
n.1238G>C
n.1279G>C
c.670+1417G>C (p.=)
n.453G>C
c.*885G>C (p.=)
n.699G>C
c.1024G>C (p.Glu342Gln)
c.784+315G>C (p.=)
n.409+315G>C (p.=)
n.412+315G>C (p.=)
c.*1038G>C (p.=)
c.646+315G>C (p.=)
c.214G>C (p.Glu72Gln)
c.5-30478G>C (p.=)
c.-43-19908G>C (p.=)
c.-99+30842G>C (p.=)
c.979G>C (p.Glu327Gln)
17g.43094429C>TCA10599855BRCA1c.1102G>A (p.Glu368Lys)
c.961G>A (p.Glu321Lys)
c.787+315G>A (p.=)
n.1238G>A
n.1279G>A
c.670+1417G>A (p.=)
n.453G>A
c.*885G>A (p.=)
n.699G>A
c.1024G>A (p.Glu342Lys)
c.784+315G>A (p.=)
n.409+315G>A (p.=)
n.412+315G>A (p.=)
c.*1038G>A (p.=)
c.646+315G>A (p.=)
c.214G>A (p.Glu72Lys)
c.5-30478G>A (p.=)
c.-43-19908G>A (p.=)
c.-99+30842G>A (p.=)
c.979G>A (p.Glu327Lys)
17g.43094429_43094430insGCA000735BRCA1c.1101_1102insC (p.Glu368ArgfsTer10)
c.960_961insC (p.Glu321ArgfsTer10)
c.787+314_787+315insC (p.=)
n.1237_1238insC
n.1278_1279insC
c.670+1416_670+1417insC (p.=)
n.452_453insC
c.*884_*885insC (p.=)
n.698_699insC
c.1023_1024insC (p.Glu342ArgfsTer10)
c.784+314_784+315insC (p.=)
n.409+314_409+315insC (p.=)
n.412+314_412+315insC (p.=)
c.*1037_*1038insC (p.=)
c.646+314_646+315insC (p.=)
c.213_214insC (p.Glu72ArgfsTer10)
c.5-30479_5-30478insC (p.=)
c.-43-19909_-43-19908insC (p.=)
c.-99+30841_-99+30842insC (p.=)
c.978_979insC (p.Glu327ArgfsTer10)
ClinVar dbSNP
17g.43094430A>CCA500233990BRCA1c.1101T>G (p.Thr367=)
c.960T>G (p.Thr320=)
c.787+314T>G (p.=)
n.1237T>G
n.1278T>G
c.670+1416T>G (p.=)
n.452T>G
c.*884T>G (p.=)
n.698T>G
c.1023T>G (p.Thr341=)
c.784+314T>G (p.=)
n.409+314T>G (p.=)
n.412+314T>G (p.=)
c.*1037T>G (p.=)
c.646+314T>G (p.=)
c.213T>G (p.Thr71=)
c.5-30479T>G (p.=)
c.-43-19909T>G (p.=)
c.-99+30841T>G (p.=)
c.978T>G (p.Thr326=)
17g.43094430A>GCA500233991BRCA1c.1101T>C (p.Thr367=)
c.960T>C (p.Thr320=)
c.787+314T>C (p.=)
n.1237T>C
n.1278T>C
c.670+1416T>C (p.=)
n.452T>C
c.*884T>C (p.=)
n.698T>C
c.1023T>C (p.Thr341=)
c.784+314T>C (p.=)
n.409+314T>C (p.=)
n.412+314T>C (p.=)
c.*1037T>C (p.=)
c.646+314T>C (p.=)
c.213T>C (p.Thr71=)
c.5-30479T>C (p.=)
c.-43-19909T>C (p.=)
c.-99+30841T>C (p.=)
c.978T>C (p.Thr326=)
17g.43094430A>TCA500233992BRCA1c.1101T>A (p.Thr367=)
c.960T>A (p.Thr320=)
c.787+314T>A (p.=)
n.1237T>A
n.1278T>A
c.670+1416T>A (p.=)
n.452T>A
c.*884T>A (p.=)
n.698T>A
c.1023T>A (p.Thr341=)
c.784+314T>A (p.=)
n.409+314T>A (p.=)
n.412+314T>A (p.=)
c.*1037T>A (p.=)
c.646+314T>A (p.=)
c.213T>A (p.Thr71=)
c.5-30479T>A (p.=)
c.-43-19909T>A (p.=)
c.-99+30841T>A (p.=)
c.978T>A (p.Thr326=)
17g.43094431G>ACA10599856BRCA1c.1100C>T (p.Thr367Ile)
c.959C>T (p.Thr320Ile)
c.787+313C>T (p.=)
n.1236C>T
n.1277C>T
c.670+1415C>T (p.=)
n.451C>T
c.*883C>T (p.=)
n.697C>T
c.1022C>T (p.Thr341Ile)
c.784+313C>T (p.=)
n.409+313C>T (p.=)
n.412+313C>T (p.=)
c.*1036C>T (p.=)
c.646+313C>T (p.=)
c.212C>T (p.Thr71Ile)
c.5-30480C>T (p.=)
c.-43-19910C>T (p.=)
c.-99+30840C>T (p.=)
c.977C>T (p.Thr326Ile)
gnomAD
17g.43094431G>CCA10599857BRCA1c.1100C>G (p.Thr367Ser)
c.959C>G (p.Thr320Ser)
c.787+313C>G (p.=)
n.1236C>G
n.1277C>G
c.670+1415C>G (p.=)
n.451C>G
c.*883C>G (p.=)
n.697C>G
c.1022C>G (p.Thr341Ser)
c.784+313C>G (p.=)
n.409+313C>G (p.=)
n.412+313C>G (p.=)
c.*1036C>G (p.=)
c.646+313C>G (p.=)
c.212C>G (p.Thr71Ser)
c.5-30480C>G (p.=)
c.-43-19910C>G (p.=)
c.-99+30840C>G (p.=)
c.977C>G (p.Thr326Ser)
17g.43094431G>TCA10599858BRCA1c.1100C>A (p.Thr367Asn)
c.959C>A (p.Thr320Asn)
c.787+313C>A (p.=)
n.1236C>A
n.1277C>A
c.670+1415C>A (p.=)
n.451C>A
c.*883C>A (p.=)
n.697C>A
c.1022C>A (p.Thr341Asn)
c.784+313C>A (p.=)
n.409+313C>A (p.=)
n.412+313C>A (p.=)
c.*1036C>A (p.=)
c.646+313C>A (p.=)
c.212C>A (p.Thr71Asn)
c.5-30480C>A (p.=)
c.-43-19910C>A (p.=)
c.-99+30840C>A (p.=)
c.977C>A (p.Thr326Asn)
17g.43094431dupCA327718BRCA1c.1100dup (p.Glu368Ter)
c.959dup (p.Glu321Ter)
c.787+313dup (p.=)
n.1236dup
n.1277dup
c.670+1415dup (p.=)
n.451dup
c.*883dup (p.=)
n.697dup
c.1022dup (p.Glu342Ter)
c.784+313dup (p.=)
n.409+313dup (p.=)
n.412+313dup (p.=)
c.*1036dup (p.=)
c.646+313dup (p.=)
c.212dup (p.Glu72Ter)
c.5-30480dup (p.=)
c.-43-19910dup (p.=)
c.-99+30840dup (p.=)
c.977dup (p.Glu327Ter)
ClinVar dbSNP
17g.43094432T>ACA10599859BRCA1c.1099A>T (p.Thr367Ser)
c.958A>T (p.Thr320Ser)
c.787+312A>T (p.=)
n.1235A>T
n.1276A>T
c.670+1414A>T (p.=)
n.450A>T
c.*882A>T (p.=)
n.696A>T
c.1021A>T (p.Thr341Ser)
c.784+312A>T (p.=)
n.409+312A>T (p.=)
n.412+312A>T (p.=)
c.*1035A>T (p.=)
c.646+312A>T (p.=)
c.211A>T (p.Thr71Ser)
c.5-30481A>T (p.=)
c.-43-19911A>T (p.=)
c.-99+30839A>T (p.=)
c.976A>T (p.Thr326Ser)
17g.43094432T>CCA10583583BRCA1c.1099A>G (p.Thr367Ala)
c.958A>G (p.Thr320Ala)
c.787+312A>G (p.=)
n.1235A>G
n.1276A>G
c.670+1414A>G (p.=)
n.450A>G
c.*882A>G (p.=)
n.696A>G
c.1021A>G (p.Thr341Ala)
c.784+312A>G (p.=)
n.409+312A>G (p.=)
n.412+312A>G (p.=)
c.*1035A>G (p.=)
c.646+312A>G (p.=)
c.211A>G (p.Thr71Ala)
c.5-30481A>G (p.=)
c.-43-19911A>G (p.=)
c.-99+30839A>G (p.=)
c.976A>G (p.Thr326Ala)
ClinVar dbSNP
17g.43094432T>GCA10599860BRCA1c.1099A>C (p.Thr367Pro)
c.958A>C (p.Thr320Pro)
c.787+312A>C (p.=)
n.1235A>C
n.1276A>C
c.670+1414A>C (p.=)
n.450A>C
c.*882A>C (p.=)
n.696A>C
c.1021A>C (p.Thr341Pro)
c.784+312A>C (p.=)
n.409+312A>C (p.=)
n.412+312A>C (p.=)
c.*1035A>C (p.=)
c.646+312A>C (p.=)
c.211A>C (p.Thr71Pro)
c.5-30481A>C (p.=)
c.-43-19911A>C (p.=)
c.-99+30839A>C (p.=)
c.976A>C (p.Thr326Pro)
17g.43094432dupCA327717BRCA1c.1099dup (p.Thr367AsnfsTer2)
c.958dup (p.Thr320AsnfsTer2)
c.787+312dup (p.=)
n.1235dup
n.1276dup
c.670+1414dup (p.=)
n.450dup
c.*882dup (p.=)
n.696dup
c.1021dup (p.Thr341AsnfsTer2)
c.784+312dup (p.=)
n.409+312dup (p.=)
n.412+312dup (p.=)
c.*1035dup (p.=)
c.646+312dup (p.=)
c.211dup (p.Thr71AsnfsTer2)
c.5-30481dup (p.=)
c.-43-19911dup (p.=)
c.-99+30839dup (p.=)
c.976dup (p.Thr326AsnfsTer2)
ClinVar dbSNP
17g.43094433A>CCA10599861BRCA1c.1098T>G (p.Asp366Glu)
c.957T>G (p.Asp319Glu)
c.787+311T>G (p.=)
n.1234T>G
n.1275T>G
c.670+1413T>G (p.=)
n.449T>G
c.*881T>G (p.=)
n.695T>G
c.1020T>G (p.Asp340Glu)
c.784+311T>G (p.=)
n.409+311T>G (p.=)
n.412+311T>G (p.=)
c.*1034T>G (p.=)
c.646+311T>G (p.=)
c.210T>G (p.Asp70Glu)
c.5-30482T>G (p.=)
c.-43-19912T>G (p.=)
c.-99+30838T>G (p.=)
c.975T>G (p.Asp325Glu)
17g.43094433A>GCA10580681BRCA1c.1098T>C (p.Asp366=)
c.957T>C (p.Asp319=)
c.787+311T>C (p.=)
n.1234T>C
n.1275T>C
c.670+1413T>C (p.=)
n.449T>C
c.*881T>C (p.=)
n.695T>C
c.1020T>C (p.Asp340=)
c.784+311T>C (p.=)
n.409+311T>C (p.=)
n.412+311T>C (p.=)
c.*1034T>C (p.=)
c.646+311T>C (p.=)
c.210T>C (p.Asp70=)
c.5-30482T>C (p.=)
c.-43-19912T>C (p.=)
c.-99+30838T>C (p.=)
c.975T>C (p.Asp325=)
ClinVar dbSNP
17g.43094433A>TCA10599862BRCA1c.1098T>A (p.Asp366Glu)
c.957T>A (p.Asp319Glu)
c.787+311T>A (p.=)
n.1234T>A
n.1275T>A
c.670+1413T>A (p.=)
n.449T>A
c.*881T>A (p.=)
n.695T>A
c.1020T>A (p.Asp340Glu)
c.784+311T>A (p.=)
n.409+311T>A (p.=)
n.412+311T>A (p.=)
c.*1034T>A (p.=)
c.646+311T>A (p.=)
c.210T>A (p.Asp70Glu)
c.5-30482T>A (p.=)
c.-43-19912T>A (p.=)
c.-99+30838T>A (p.=)
c.975T>A (p.Asp325Glu)
17g.43094434T>ACA000733BRCA1c.1097A>T (p.Asp366Val)
c.956A>T (p.Asp319Val)
c.787+310A>T (p.=)
n.1233A>T
n.1274A>T
c.670+1412A>T (p.=)
n.448A>T
c.*880A>T (p.=)
n.694A>T
c.1019A>T (p.Asp340Val)
c.784+310A>T (p.=)
n.409+310A>T (p.=)
n.412+310A>T (p.=)
c.*1033A>T (p.=)
c.646+310A>T (p.=)
c.209A>T (p.Asp70Val)
c.5-30483A>T (p.=)
c.-43-19913A>T (p.=)
c.-99+30837A>T (p.=)
c.974A>T (p.Asp325Val)
ClinVar dbSNP

Number of alleles fetched