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.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=)
ClinVar
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
17g.43094434T>CCA10599863BRCA1c.1097A>G (p.Asp366Gly)
c.956A>G (p.Asp319Gly)
c.787+310A>G (p.=)
n.1233A>G
n.1274A>G
c.670+1412A>G (p.=)
n.448A>G
c.*880A>G (p.=)
n.694A>G
c.1019A>G (p.Asp340Gly)
c.784+310A>G (p.=)
n.409+310A>G (p.=)
n.412+310A>G (p.=)
c.*1033A>G (p.=)
c.646+310A>G (p.=)
c.209A>G (p.Asp70Gly)
c.5-30483A>G (p.=)
c.-43-19913A>G (p.=)
c.-99+30837A>G (p.=)
c.974A>G (p.Asp325Gly)
17g.43094434T>GCA10599864BRCA1c.1097A>C (p.Asp366Ala)
c.956A>C (p.Asp319Ala)
c.787+310A>C (p.=)
n.1233A>C
n.1274A>C
c.670+1412A>C (p.=)
n.448A>C
c.*880A>C (p.=)
n.694A>C
c.1019A>C (p.Asp340Ala)
c.784+310A>C (p.=)
n.409+310A>C (p.=)
n.412+310A>C (p.=)
c.*1033A>C (p.=)
c.646+310A>C (p.=)
c.209A>C (p.Asp70Ala)
c.5-30483A>C (p.=)
c.-43-19913A>C (p.=)
c.-99+30837A>C (p.=)
c.974A>C (p.Asp325Ala)
17g.43094435C>ACA10599865BRCA1c.1096G>T (p.Asp366Tyr)
c.955G>T (p.Asp319Tyr)
c.787+309G>T (p.=)
n.1232G>T
n.1273G>T
c.670+1411G>T (p.=)
n.447G>T
c.*879G>T (p.=)
n.693G>T
c.1018G>T (p.Asp340Tyr)
c.784+309G>T (p.=)
n.409+309G>T (p.=)
n.412+309G>T (p.=)
c.*1032G>T (p.=)
c.646+309G>T (p.=)
c.208G>T (p.Asp70Tyr)
c.5-30484G>T (p.=)
c.-43-19914G>T (p.=)
c.-99+30836G>T (p.=)
c.973G>T (p.Asp325Tyr)
17g.43094435C>GCA10599866BRCA1c.1096G>C (p.Asp366His)
c.955G>C (p.Asp319His)
c.787+309G>C (p.=)
n.1232G>C
n.1273G>C
c.670+1411G>C (p.=)
n.447G>C
c.*879G>C (p.=)
n.693G>C
c.1018G>C (p.Asp340His)
c.784+309G>C (p.=)
n.409+309G>C (p.=)
n.412+309G>C (p.=)
c.*1032G>C (p.=)
c.646+309G>C (p.=)
c.208G>C (p.Asp70His)
c.5-30484G>C (p.=)
c.-43-19914G>C (p.=)
c.-99+30836G>C (p.=)
c.973G>C (p.Asp325His)
ClinVar
17g.43094435C>TCA10599867BRCA1c.1096G>A (p.Asp366Asn)
c.955G>A (p.Asp319Asn)
c.787+309G>A (p.=)
n.1232G>A
n.1273G>A
c.670+1411G>A (p.=)
n.447G>A
c.*879G>A (p.=)
n.693G>A
c.1018G>A (p.Asp340Asn)
c.784+309G>A (p.=)
n.409+309G>A (p.=)
n.412+309G>A (p.=)
c.*1032G>A (p.=)
c.646+309G>A (p.=)
c.208G>A (p.Asp70Asn)
c.5-30484G>A (p.=)
c.-43-19914G>A (p.=)
c.-99+30836G>A (p.=)
c.973G>A (p.Asp325Asn)
COSMIC COSMIC
17g.43094436T>ACA10599868BRCA1c.1095A>T (p.Arg365Ser)
c.954A>T (p.Arg318Ser)
c.787+308A>T (p.=)
n.1231A>T
n.1272A>T
c.670+1410A>T (p.=)
n.446A>T
c.*878A>T (p.=)
n.692A>T
c.1017A>T (p.Arg339Ser)
c.784+308A>T (p.=)
n.409+308A>T (p.=)
n.412+308A>T (p.=)
c.*1031A>T (p.=)
c.646+308A>T (p.=)
c.207A>T (p.Arg69Ser)
c.5-30485A>T (p.=)
c.-43-19915A>T (p.=)
c.-99+30835A>T (p.=)
c.972A>T (p.Arg324Ser)
17g.43094436T>CCA500233993BRCA1c.1095A>G (p.Arg365=)
c.954A>G (p.Arg318=)
c.787+308A>G (p.=)
n.1231A>G
n.1272A>G
c.670+1410A>G (p.=)
n.446A>G
c.*878A>G (p.=)
n.692A>G
c.1017A>G (p.Arg339=)
c.784+308A>G (p.=)
n.409+308A>G (p.=)
n.412+308A>G (p.=)
c.*1031A>G (p.=)
c.646+308A>G (p.=)
c.207A>G (p.Arg69=)
c.5-30485A>G (p.=)
c.-43-19915A>G (p.=)
c.-99+30835A>G (p.=)
c.972A>G (p.Arg324=)
17g.43094436T>GCA10599869BRCA1c.1095A>C (p.Arg365Ser)
c.954A>C (p.Arg318Ser)
c.787+308A>C (p.=)
n.1231A>C
n.1272A>C
c.670+1410A>C (p.=)
n.446A>C
c.*878A>C (p.=)
n.692A>C
c.1017A>C (p.Arg339Ser)
c.784+308A>C (p.=)
n.409+308A>C (p.=)
n.412+308A>C (p.=)
c.*1031A>C (p.=)
c.646+308A>C (p.=)
c.207A>C (p.Arg69Ser)
c.5-30485A>C (p.=)
c.-43-19915A>C (p.=)
c.-99+30835A>C (p.=)
c.972A>C (p.Arg324Ser)
17g.43094437C>ACA10599870BRCA1c.1094G>T (p.Arg365Ile)
c.953G>T (p.Arg318Ile)
c.787+307G>T (p.=)
n.1230G>T
n.1271G>T
c.670+1409G>T (p.=)
n.445G>T
c.*877G>T (p.=)
n.691G>T
c.1016G>T (p.Arg339Ile)
c.784+307G>T (p.=)
n.409+307G>T (p.=)
n.412+307G>T (p.=)
c.*1030G>T (p.=)
c.646+307G>T (p.=)
c.206G>T (p.Arg69Ile)
c.5-30486G>T (p.=)
c.-43-19916G>T (p.=)
c.-99+30834G>T (p.=)
c.971G>T (p.Arg324Ile)
ClinVar
17g.43094437C>GCA10599871BRCA1c.1094G>C (p.Arg365Thr)
c.953G>C (p.Arg318Thr)
c.787+307G>C (p.=)
n.1230G>C
n.1271G>C
c.670+1409G>C (p.=)
n.445G>C
c.*877G>C (p.=)
n.691G>C
c.1016G>C (p.Arg339Thr)
c.784+307G>C (p.=)
n.409+307G>C (p.=)
n.412+307G>C (p.=)
c.*1030G>C (p.=)
c.646+307G>C (p.=)
c.206G>C (p.Arg69Thr)
c.5-30486G>C (p.=)
c.-43-19916G>C (p.=)
c.-99+30834G>C (p.=)
c.971G>C (p.Arg324Thr)
17g.43094437C>TCA10599872BRCA1c.1094G>A (p.Arg365Lys)
c.953G>A (p.Arg318Lys)
c.787+307G>A (p.=)
n.1230G>A
n.1271G>A
c.670+1409G>A (p.=)
n.445G>A
c.*877G>A (p.=)
n.691G>A
c.1016G>A (p.Arg339Lys)
c.784+307G>A (p.=)
n.409+307G>A (p.=)
n.412+307G>A (p.=)
c.*1030G>A (p.=)
c.646+307G>A (p.=)
c.206G>A (p.Arg69Lys)
c.5-30486G>A (p.=)
c.-43-19916G>A (p.=)
c.-99+30834G>A (p.=)
c.971G>A (p.Arg324Lys)
ClinVar
17g.43094438T>ACA000732BRCA1c.1093A>T (p.Arg365Ter)
c.952A>T (p.Arg318Ter)
c.787+306A>T (p.=)
n.1229A>T
n.1270A>T
c.670+1408A>T (p.=)
n.444A>T
c.*876A>T (p.=)
n.690A>T
c.1015A>T (p.Arg339Ter)
c.784+306A>T (p.=)
n.409+306A>T (p.=)
n.412+306A>T (p.=)
c.*1029A>T (p.=)
c.646+306A>T (p.=)
c.205A>T (p.Arg69Ter)
c.5-30487A>T (p.=)
c.-43-19917A>T (p.=)
c.-99+30833A>T (p.=)
c.970A>T (p.Arg324Ter)
ClinVar dbSNP
17g.43094438T>CCA10599873BRCA1c.1093A>G (p.Arg365Gly)
c.952A>G (p.Arg318Gly)
c.787+306A>G (p.=)
n.1229A>G
n.1270A>G
c.670+1408A>G (p.=)
n.444A>G
c.*876A>G (p.=)
n.690A>G
c.1015A>G (p.Arg339Gly)
c.784+306A>G (p.=)
n.409+306A>G (p.=)
n.412+306A>G (p.=)
c.*1029A>G (p.=)
c.646+306A>G (p.=)
c.205A>G (p.Arg69Gly)
c.5-30487A>G (p.=)
c.-43-19917A>G (p.=)
c.-99+30833A>G (p.=)
c.970A>G (p.Arg324Gly)
17g.43094438T>GCA500233994BRCA1c.1093A>C (p.Arg365=)
c.952A>C (p.Arg318=)
c.787+306A>C (p.=)
n.1229A>C
n.1270A>C
c.670+1408A>C (p.=)
n.444A>C
c.*876A>C (p.=)
n.690A>C
c.1015A>C (p.Arg339=)
c.784+306A>C (p.=)
n.409+306A>C (p.=)
n.412+306A>C (p.=)
c.*1029A>C (p.=)
c.646+306A>C (p.=)
c.205A>C (p.Arg69=)
c.5-30487A>C (p.=)
c.-43-19917A>C (p.=)
c.-99+30833A>C (p.=)
c.970A>C (p.Arg324=)
17g.43094439A>CCA500233995BRCA1c.1092T>G (p.Pro364=)
c.951T>G (p.Pro317=)
c.787+305T>G (p.=)
n.1228T>G
n.1269T>G
c.670+1407T>G (p.=)
n.443T>G
c.*875T>G (p.=)
n.689T>G
c.1014T>G (p.Pro338=)
c.784+305T>G (p.=)
n.409+305T>G (p.=)
n.412+305T>G (p.=)
c.*1028T>G (p.=)
c.646+305T>G (p.=)
c.204T>G (p.Pro68=)
c.5-30488T>G (p.=)
c.-43-19918T>G (p.=)
c.-99+30832T>G (p.=)
c.969T>G (p.Pro323=)
17g.43094439A>GCA500233996BRCA1c.1092T>C (p.Pro364=)
c.951T>C (p.Pro317=)
c.787+305T>C (p.=)
n.1228T>C
n.1269T>C
c.670+1407T>C (p.=)
n.443T>C
c.*875T>C (p.=)
n.689T>C
c.1014T>C (p.Pro338=)
c.784+305T>C (p.=)
n.409+305T>C (p.=)
n.412+305T>C (p.=)
c.*1028T>C (p.=)
c.646+305T>C (p.=)
c.204T>C (p.Pro68=)
c.5-30488T>C (p.=)
c.-43-19918T>C (p.=)
c.-99+30832T>C (p.=)
c.969T>C (p.Pro323=)
ClinVar
17g.43094439A>TCA500233997BRCA1c.1092T>A (p.Pro364=)
c.951T>A (p.Pro317=)
c.787+305T>A (p.=)
n.1228T>A
n.1269T>A
c.670+1407T>A (p.=)
n.443T>A
c.*875T>A (p.=)
n.689T>A
c.1014T>A (p.Pro338=)
c.784+305T>A (p.=)
n.409+305T>A (p.=)
n.412+305T>A (p.=)
c.*1028T>A (p.=)
c.646+305T>A (p.=)
c.204T>A (p.Pro68=)
c.5-30488T>A (p.=)
c.-43-19918T>A (p.=)
c.-99+30832T>A (p.=)
c.969T>A (p.Pro323=)
17g.43094439_43094440delCA658656797BRCA1c.1091_1092del (p.Pro364GlnfsTer4)
c.950_951del (p.Pro317GlnfsTer4)
c.787+304_787+305del (p.=)
n.1227_1228del
n.1268_1269del
c.670+1406_670+1407del (p.=)
n.442_443del
c.*874_*875del (p.=)
n.688_689del
c.1013_1014del (p.Pro338GlnfsTer4)
c.784+304_784+305del (p.=)
n.409+304_409+305del (p.=)
n.412+304_412+305del (p.=)
c.*1027_*1028del (p.=)
c.646+304_646+305del (p.=)
c.203_204del (p.Pro68GlnfsTer4)
c.5-30489_5-30488del (p.=)
c.-43-19919_-43-19918del (p.=)
c.-99+30831_-99+30832del (p.=)
c.968_969del (p.Pro323GlnfsTer4)
ClinVar dbSNP
17g.43094439_43094449delCA000724BRCA1c.1080_1090del (p.Ser361Ter)
c.939_949del (p.Ser314Ter)
c.787+293_787+303del (p.=)
n.1216_1226del
n.1257_1267del
c.670+1395_670+1405del (p.=)
n.431_441del
c.*863_*873del (p.=)
n.677_687del
c.1002_1012del (p.Ser335Ter)
c.784+293_784+303del (p.=)
n.409+293_409+303del (p.=)
n.412+293_412+303del (p.=)
c.*1016_*1026del (p.=)
c.646+293_646+303del (p.=)
c.192_202del (p.Ser65Ter)
c.5-30500_5-30490del (p.=)
c.-43-19930_-43-19920del (p.=)
c.-99+30820_-99+30830del (p.=)
c.957_967del (p.Ser320Ter)
ClinVar dbSNP ExAC gnomAD
17g.43094440G>ACA10599874BRCA1c.1091C>T (p.Pro364Leu)
c.950C>T (p.Pro317Leu)
c.787+304C>T (p.=)
n.1227C>T
n.1268C>T
c.670+1406C>T (p.=)
n.442C>T
c.*874C>T (p.=)
n.688C>T
c.1013C>T (p.Pro338Leu)
c.784+304C>T (p.=)
n.409+304C>T (p.=)
n.412+304C>T (p.=)
c.*1027C>T (p.=)
c.646+304C>T (p.=)
c.203C>T (p.Pro68Leu)
c.5-30489C>T (p.=)
c.-43-19919C>T (p.=)
c.-99+30831C>T (p.=)
c.968C>T (p.Pro323Leu)
17g.43094440G>CCA10599875BRCA1c.1091C>G (p.Pro364Arg)
c.950C>G (p.Pro317Arg)
c.787+304C>G (p.=)
n.1227C>G
n.1268C>G
c.670+1406C>G (p.=)
n.442C>G
c.*874C>G (p.=)
n.688C>G
c.1013C>G (p.Pro338Arg)
c.784+304C>G (p.=)
n.409+304C>G (p.=)
n.412+304C>G (p.=)
c.*1027C>G (p.=)
c.646+304C>G (p.=)
c.203C>G (p.Pro68Arg)
c.5-30489C>G (p.=)
c.-43-19919C>G (p.=)
c.-99+30831C>G (p.=)
c.968C>G (p.Pro323Arg)
17g.43094440G>TCA10599876BRCA1c.1091C>A (p.Pro364His)
c.950C>A (p.Pro317His)
c.787+304C>A (p.=)
n.1227C>A
n.1268C>A
c.670+1406C>A (p.=)
n.442C>A
c.*874C>A (p.=)
n.688C>A
c.1013C>A (p.Pro338His)
c.784+304C>A (p.=)
n.409+304C>A (p.=)
n.412+304C>A (p.=)
c.*1027C>A (p.=)
c.646+304C>A (p.=)
c.203C>A (p.Pro68His)
c.5-30489C>A (p.=)
c.-43-19919C>A (p.=)
c.-99+30831C>A (p.=)
c.968C>A (p.Pro323His)
17g.43094440delCA000731BRCA1c.1090del (p.Pro364LeufsTer10)
c.949del (p.Pro317LeufsTer10)
c.787+303del (p.=)
n.1226del
n.1267del
c.670+1405del (p.=)
n.441del
c.*873del (p.=)
n.687del
c.1012del (p.Pro338LeufsTer10)
c.784+303del (p.=)
n.409+303del (p.=)
n.412+303del (p.=)
c.*1026del (p.=)
c.646+303del (p.=)
c.202del (p.Pro68LeufsTer10)
c.5-30490del (p.=)
c.-43-19920del (p.=)
c.-99+30830del (p.=)
c.967del (p.Pro323LeufsTer10)
ClinVar dbSNP
17g.43094441G>ACA10599877BRCA1c.1090C>T (p.Pro364Ser)
c.949C>T (p.Pro317Ser)
c.787+303C>T (p.=)
n.1226C>T
n.1267C>T
c.670+1405C>T (p.=)
n.441C>T
c.*873C>T (p.=)
n.687C>T
c.1012C>T (p.Pro338Ser)
c.784+303C>T (p.=)
n.409+303C>T (p.=)
n.412+303C>T (p.=)
c.*1026C>T (p.=)
c.646+303C>T (p.=)
c.202C>T (p.Pro68Ser)
c.5-30490C>T (p.=)
c.-43-19920C>T (p.=)
c.-99+30830C>T (p.=)
c.967C>T (p.Pro323Ser)
17g.43094441G>CCA10599878BRCA1c.1090C>G (p.Pro364Ala)
c.949C>G (p.Pro317Ala)
c.787+303C>G (p.=)
n.1226C>G
n.1267C>G
c.670+1405C>G (p.=)
n.441C>G
c.*873C>G (p.=)
n.687C>G
c.1012C>G (p.Pro338Ala)
c.784+303C>G (p.=)
n.409+303C>G (p.=)
n.412+303C>G (p.=)
c.*1026C>G (p.=)
c.646+303C>G (p.=)
c.202C>G (p.Pro68Ala)
c.5-30490C>G (p.=)
c.-43-19920C>G (p.=)
c.-99+30830C>G (p.=)
c.967C>G (p.Pro323Ala)
17g.43094441G>TCA10580682BRCA1c.1090C>A (p.Pro364Thr)
c.949C>A (p.Pro317Thr)
c.787+303C>A (p.=)
n.1226C>A
n.1267C>A
c.670+1405C>A (p.=)
n.441C>A
c.*873C>A (p.=)
n.687C>A
c.1012C>A (p.Pro338Thr)
c.784+303C>A (p.=)
n.409+303C>A (p.=)
n.412+303C>A (p.=)
c.*1026C>A (p.=)
c.646+303C>A (p.=)
c.202C>A (p.Pro68Thr)
c.5-30490C>A (p.=)
c.-43-19920C>A (p.=)
c.-99+30830C>A (p.=)
c.967C>A (p.Pro323Thr)
ClinVar dbSNP
17g.43094442A>CCA10599879BRCA1c.1089T>G (p.Asn363Lys)
c.948T>G (p.Asn316Lys)
c.787+302T>G (p.=)
n.1225T>G
n.1266T>G
c.670+1404T>G (p.=)
n.440T>G
c.*872T>G (p.=)
n.686T>G
c.1011T>G (p.Asn337Lys)
c.784+302T>G (p.=)
n.409+302T>G (p.=)
n.412+302T>G (p.=)
c.*1025T>G (p.=)
c.646+302T>G (p.=)
c.201T>G (p.Asn67Lys)
c.5-30491T>G (p.=)
c.-43-19921T>G (p.=)
c.-99+30829T>G (p.=)
c.966T>G (p.Asn322Lys)
17g.43094442A>GCA500233998BRCA1c.1089T>C (p.Asn363=)
c.948T>C (p.Asn316=)
c.787+302T>C (p.=)
n.1225T>C
n.1266T>C
c.670+1404T>C (p.=)
n.440T>C
c.*872T>C (p.=)
n.686T>C
c.1011T>C (p.Asn337=)
c.784+302T>C (p.=)
n.409+302T>C (p.=)
n.412+302T>C (p.=)
c.*1025T>C (p.=)
c.646+302T>C (p.=)
c.201T>C (p.Asn67=)
c.5-30491T>C (p.=)
c.-43-19921T>C (p.=)
c.-99+30829T>C (p.=)
c.966T>C (p.Asn322=)
17g.43094442A>TCA10599880BRCA1c.1089T>A (p.Asn363Lys)
c.948T>A (p.Asn316Lys)
c.787+302T>A (p.=)
n.1225T>A
n.1266T>A
c.670+1404T>A (p.=)
n.440T>A
c.*872T>A (p.=)
n.686T>A
c.1011T>A (p.Asn337Lys)
c.784+302T>A (p.=)
n.409+302T>A (p.=)
n.412+302T>A (p.=)
c.*1025T>A (p.=)
c.646+302T>A (p.=)
c.201T>A (p.Asn67Lys)
c.5-30491T>A (p.=)
c.-43-19921T>A (p.=)
c.-99+30829T>A (p.=)
c.966T>A (p.Asn322Lys)

Number of alleles fetched