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.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.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.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.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)
17g.43094529G>ACA500234042BRCA1c.1002C>T (p.Pro334=)
c.861C>T (p.Pro287=)
c.787+215C>T (p.=)
n.1138C>T
n.1179C>T
c.670+1317C>T (p.=)
n.353C>T
c.*785C>T (p.=)
n.599C>T
c.924C>T (p.Pro308=)
c.784+215C>T (p.=)
n.409+215C>T (p.=)
n.412+215C>T (p.=)
c.*938C>T (p.=)
c.646+215C>T (p.=)
c.114C>T (p.Pro38=)
c.5-30578C>T (p.=)
c.-43-20008C>T (p.=)
c.-99+30742C>T (p.=)
c.879C>T (p.Pro293=)
ClinVar
17g.43094529G>CCA500234044BRCA1c.1002C>G (p.Pro334=)
c.861C>G (p.Pro287=)
c.787+215C>G (p.=)
n.1138C>G
n.1179C>G
c.670+1317C>G (p.=)
n.353C>G
c.*785C>G (p.=)
n.599C>G
c.924C>G (p.Pro308=)
c.784+215C>G (p.=)
n.409+215C>G (p.=)
n.412+215C>G (p.=)
c.*938C>G (p.=)
c.646+215C>G (p.=)
c.114C>G (p.Pro38=)
c.5-30578C>G (p.=)
c.-43-20008C>G (p.=)
c.-99+30742C>G (p.=)
c.879C>G (p.Pro293=)
17g.43094529G>TCA500234043BRCA1c.1002C>A (p.Pro334=)
c.861C>A (p.Pro287=)
c.787+215C>A (p.=)
n.1138C>A
n.1179C>A
c.670+1317C>A (p.=)
n.353C>A
c.*785C>A (p.=)
n.599C>A
c.924C>A (p.Pro308=)
c.784+215C>A (p.=)
n.409+215C>A (p.=)
n.412+215C>A (p.=)
c.*938C>A (p.=)
c.646+215C>A (p.=)
c.114C>A (p.Pro38=)
c.5-30578C>A (p.=)
c.-43-20008C>A (p.=)
c.-99+30742C>A (p.=)
c.879C>A (p.Pro293=)
17g.43094531delCA10580686BRCA1c.1002del (p.Ser335AlafsTer6)
c.861del (p.Ser288AlafsTer6)
c.787+215del (p.=)
n.1138del
n.1179del
c.670+1317del (p.=)
n.353del
c.*785del (p.=)
n.599del
c.924del (p.Ser309AlafsTer6)
c.784+215del (p.=)
n.409+215del (p.=)
n.412+215del (p.=)
c.*938del (p.=)
c.646+215del (p.=)
c.114del (p.Ser39AlafsTer6)
c.5-30578del (p.=)
c.-43-20008del (p.=)
c.-99+30742del (p.=)
c.879del (p.Ser294AlafsTer6)
ClinVar dbSNP
17g.43094530G>ACA000679BRCA1c.1001C>T (p.Pro334Leu)
c.860C>T (p.Pro287Leu)
c.787+214C>T (p.=)
n.1137C>T
n.1178C>T
c.670+1316C>T (p.=)
n.352C>T
c.*784C>T (p.=)
n.598C>T
c.923C>T (p.Pro308Leu)
c.784+214C>T (p.=)
n.409+214C>T (p.=)
n.412+214C>T (p.=)
c.*937C>T (p.=)
c.646+214C>T (p.=)
c.113C>T (p.Pro38Leu)
c.5-30579C>T (p.=)
c.-43-20009C>T (p.=)
c.-99+30741C>T (p.=)
c.878C>T (p.Pro293Leu)
ClinVar dbSNP ExAC gnomAD
17g.43094530G>CCA10600059BRCA1c.1001C>G (p.Pro334Arg)
c.860C>G (p.Pro287Arg)
c.787+214C>G (p.=)
n.1137C>G
n.1178C>G
c.670+1316C>G (p.=)
n.352C>G
c.*784C>G (p.=)
n.598C>G
c.923C>G (p.Pro308Arg)
c.784+214C>G (p.=)
n.409+214C>G (p.=)
n.412+214C>G (p.=)
c.*937C>G (p.=)
c.646+214C>G (p.=)
c.113C>G (p.Pro38Arg)
c.5-30579C>G (p.=)
c.-43-20009C>G (p.=)
c.-99+30741C>G (p.=)
c.878C>G (p.Pro293Arg)
17g.43094530G>TCA000678BRCA1c.1001C>A (p.Pro334His)
c.860C>A (p.Pro287His)
c.787+214C>A (p.=)
n.1137C>A
n.1178C>A
c.670+1316C>A (p.=)
n.352C>A
c.*784C>A (p.=)
n.598C>A
c.923C>A (p.Pro308His)
c.784+214C>A (p.=)
n.409+214C>A (p.=)
n.412+214C>A (p.=)
c.*937C>A (p.=)
c.646+214C>A (p.=)
c.113C>A (p.Pro38His)
c.5-30579C>A (p.=)
c.-43-20009C>A (p.=)
c.-99+30741C>A (p.=)
c.878C>A (p.Pro293His)
ClinVar dbSNP
17g.43094531G>ACA10600060BRCA1c.1000C>T (p.Pro334Ser)
c.859C>T (p.Pro287Ser)
c.787+213C>T (p.=)
n.1136C>T
n.1177C>T
c.670+1315C>T (p.=)
n.351C>T
c.*783C>T (p.=)
n.597C>T
c.922C>T (p.Pro308Ser)
c.784+213C>T (p.=)
n.409+213C>T (p.=)
n.412+213C>T (p.=)
c.*936C>T (p.=)
c.646+213C>T (p.=)
c.112C>T (p.Pro38Ser)
c.5-30580C>T (p.=)
c.-43-20010C>T (p.=)
c.-99+30740C>T (p.=)
c.877C>T (p.Pro293Ser)
17g.43094531G>CCA10600061BRCA1c.1000C>G (p.Pro334Ala)
c.859C>G (p.Pro287Ala)
c.787+213C>G (p.=)
n.1136C>G
n.1177C>G
c.670+1315C>G (p.=)
n.351C>G
c.*783C>G (p.=)
n.597C>G
c.922C>G (p.Pro308Ala)
c.784+213C>G (p.=)
n.409+213C>G (p.=)
n.412+213C>G (p.=)
c.*936C>G (p.=)
c.646+213C>G (p.=)
c.112C>G (p.Pro38Ala)
c.5-30580C>G (p.=)
c.-43-20010C>G (p.=)
c.-99+30740C>G (p.=)
c.877C>G (p.Pro293Ala)
17g.43094531G>TCA10600062BRCA1c.1000C>A (p.Pro334Thr)
c.859C>A (p.Pro287Thr)
c.787+213C>A (p.=)
n.1136C>A
n.1177C>A
c.670+1315C>A (p.=)
n.351C>A
c.*783C>A (p.=)
n.597C>A
c.922C>A (p.Pro308Thr)
c.784+213C>A (p.=)
n.409+213C>A (p.=)
n.412+213C>A (p.=)
c.*936C>A (p.=)
c.646+213C>A (p.=)
c.112C>A (p.Pro38Thr)
c.5-30580C>A (p.=)
c.-43-20010C>A (p.=)
c.-99+30740C>A (p.=)
c.877C>A (p.Pro293Thr)
ClinVar
17g.43094532A>CCA500234045BRCA1c.999T>G (p.Thr333=)
c.858T>G (p.Thr286=)
c.787+212T>G (p.=)
n.1135T>G
n.1176T>G
c.670+1314T>G (p.=)
n.350T>G
c.*782T>G (p.=)
n.596T>G
c.921T>G (p.Thr307=)
c.784+212T>G (p.=)
n.409+212T>G (p.=)
n.412+212T>G (p.=)
c.*935T>G (p.=)
c.646+212T>G (p.=)
c.111T>G (p.Thr37=)
c.5-30581T>G (p.=)
c.-43-20011T>G (p.=)
c.-99+30739T>G (p.=)
c.876T>G (p.Thr292=)
17g.43094532A>GCA500234046BRCA1c.999T>C (p.Thr333=)
c.858T>C (p.Thr286=)
c.787+212T>C (p.=)
n.1135T>C
n.1176T>C
c.670+1314T>C (p.=)
n.350T>C
c.*782T>C (p.=)
n.596T>C
c.921T>C (p.Thr307=)
c.784+212T>C (p.=)
n.409+212T>C (p.=)
n.412+212T>C (p.=)
c.*935T>C (p.=)
c.646+212T>C (p.=)
c.111T>C (p.Thr37=)
c.5-30581T>C (p.=)
c.-43-20011T>C (p.=)
c.-99+30739T>C (p.=)
c.876T>C (p.Thr292=)
17g.43094532A>TCA500234047BRCA1c.999T>A (p.Thr333=)
c.858T>A (p.Thr286=)
c.787+212T>A (p.=)
n.1135T>A
n.1176T>A
c.670+1314T>A (p.=)
n.350T>A
c.*782T>A (p.=)
n.596T>A
c.921T>A (p.Thr307=)
c.784+212T>A (p.=)
n.409+212T>A (p.=)
n.412+212T>A (p.=)
c.*935T>A (p.=)
c.646+212T>A (p.=)
c.111T>A (p.Thr37=)
c.5-30581T>A (p.=)
c.-43-20011T>A (p.=)
c.-99+30739T>A (p.=)
c.876T>A (p.Thr292=)
ClinVar
17g.43094533G>ACA004008BRCA1c.998C>T (p.Thr333Ile)
c.857C>T (p.Thr286Ile)
c.787+211C>T (p.=)
n.1134C>T
n.1175C>T
c.670+1313C>T (p.=)
n.349C>T
c.*781C>T (p.=)
n.595C>T
c.920C>T (p.Thr307Ile)
c.784+211C>T (p.=)
n.409+211C>T (p.=)
n.412+211C>T (p.=)
c.*934C>T (p.=)
c.646+211C>T (p.=)
c.110C>T (p.Thr37Ile)
c.5-30582C>T (p.=)
c.-43-20012C>T (p.=)
c.-99+30738C>T (p.=)
c.875C>T (p.Thr292Ile)
ClinVar dbSNP gnomAD
17g.43094533G>CCA10600063BRCA1c.998C>G (p.Thr333Ser)
c.857C>G (p.Thr286Ser)
c.787+211C>G (p.=)
n.1134C>G
n.1175C>G
c.670+1313C>G (p.=)
n.349C>G
c.*781C>G (p.=)
n.595C>G
c.920C>G (p.Thr307Ser)
c.784+211C>G (p.=)
n.409+211C>G (p.=)
n.412+211C>G (p.=)
c.*934C>G (p.=)
c.646+211C>G (p.=)
c.110C>G (p.Thr37Ser)
c.5-30582C>G (p.=)
c.-43-20012C>G (p.=)
c.-99+30738C>G (p.=)
c.875C>G (p.Thr292Ser)
ClinVar
17g.43094533G>TCA10600064BRCA1c.998C>A (p.Thr333Asn)
c.857C>A (p.Thr286Asn)
c.787+211C>A (p.=)
n.1134C>A
n.1175C>A
c.670+1313C>A (p.=)
n.349C>A
c.*781C>A (p.=)
n.595C>A
c.920C>A (p.Thr307Asn)
c.784+211C>A (p.=)
n.409+211C>A (p.=)
n.412+211C>A (p.=)
c.*934C>A (p.=)
c.646+211C>A (p.=)
c.110C>A (p.Thr37Asn)
c.5-30582C>A (p.=)
c.-43-20012C>A (p.=)
c.-99+30738C>A (p.=)
c.875C>A (p.Thr292Asn)
17g.43094534T>ACA10600065BRCA1c.997A>T (p.Thr333Ser)
c.856A>T (p.Thr286Ser)
c.787+210A>T (p.=)
n.1133A>T
n.1174A>T
c.670+1312A>T (p.=)
n.348A>T
c.*780A>T (p.=)
n.594A>T
c.919A>T (p.Thr307Ser)
c.784+210A>T (p.=)
n.409+210A>T (p.=)
n.412+210A>T (p.=)
c.*933A>T (p.=)
c.646+210A>T (p.=)
c.109A>T (p.Thr37Ser)
c.5-30583A>T (p.=)
c.-43-20013A>T (p.=)
c.-99+30737A>T (p.=)
c.874A>T (p.Thr292Ser)
17g.43094534T>CCA004007BRCA1c.997A>G (p.Thr333Ala)
c.856A>G (p.Thr286Ala)
c.787+210A>G (p.=)
n.1133A>G
n.1174A>G
c.670+1312A>G (p.=)
n.348A>G
c.*780A>G (p.=)
n.594A>G
c.919A>G (p.Thr307Ala)
c.784+210A>G (p.=)
n.409+210A>G (p.=)
n.412+210A>G (p.=)
c.*933A>G (p.=)
c.646+210A>G (p.=)
c.109A>G (p.Thr37Ala)
c.5-30583A>G (p.=)
c.-43-20013A>G (p.=)
c.-99+30737A>G (p.=)
c.874A>G (p.Thr292Ala)
ClinVar dbSNP
17g.43094534T>GCA10600066BRCA1c.997A>C (p.Thr333Pro)
c.856A>C (p.Thr286Pro)
c.787+210A>C (p.=)
n.1133A>C
n.1174A>C
c.670+1312A>C (p.=)
n.348A>C
c.*780A>C (p.=)
n.594A>C
c.919A>C (p.Thr307Pro)
c.784+210A>C (p.=)
n.409+210A>C (p.=)
n.412+210A>C (p.=)
c.*933A>C (p.=)
c.646+210A>C (p.=)
c.109A>C (p.Thr37Pro)
c.5-30583A>C (p.=)
c.-43-20013A>C (p.=)
c.-99+30737A>C (p.=)
c.874A>C (p.Thr292Pro)
17g.43094535C>ACA004006BRCA1c.996G>T (p.Arg332=)
c.855G>T (p.Arg285=)
c.787+209G>T (p.=)
n.1132G>T
n.1173G>T
c.670+1311G>T (p.=)
n.347G>T
c.*779G>T (p.=)
n.593G>T
c.918G>T (p.Arg306=)
c.784+209G>T (p.=)
n.409+209G>T (p.=)
n.412+209G>T (p.=)
c.*932G>T (p.=)
c.646+209G>T (p.=)
c.108G>T (p.Arg36=)
c.5-30584G>T (p.=)
c.-43-20014G>T (p.=)
c.-99+30736G>T (p.=)
c.873G>T (p.Arg291=)
ClinVar dbSNP ExAC gnomAD
17g.43094535C>GCA500234048BRCA1c.996G>C (p.Arg332=)
c.855G>C (p.Arg285=)
c.787+209G>C (p.=)
n.1132G>C
n.1173G>C
c.670+1311G>C (p.=)
n.347G>C
c.*779G>C (p.=)
n.593G>C
c.918G>C (p.Arg306=)
c.784+209G>C (p.=)
n.409+209G>C (p.=)
n.412+209G>C (p.=)
c.*932G>C (p.=)
c.646+209G>C (p.=)
c.108G>C (p.Arg36=)
c.5-30584G>C (p.=)
c.-43-20014G>C (p.=)
c.-99+30736G>C (p.=)
c.873G>C (p.Arg291=)
17g.43094535C>TCA500234049BRCA1c.996G>A (p.Arg332=)
c.855G>A (p.Arg285=)
c.787+209G>A (p.=)
n.1132G>A
n.1173G>A
c.670+1311G>A (p.=)
n.347G>A
c.*779G>A (p.=)
n.593G>A
c.918G>A (p.Arg306=)
c.784+209G>A (p.=)
n.409+209G>A (p.=)
n.412+209G>A (p.=)
c.*932G>A (p.=)
c.646+209G>A (p.=)
c.108G>A (p.Arg36=)
c.5-30584G>A (p.=)
c.-43-20014G>A (p.=)
c.-99+30736G>A (p.=)
c.873G>A (p.Arg291=)
17g.43094536C>ACA10600067BRCA1c.995G>T (p.Arg332Leu)
c.854G>T (p.Arg285Leu)
c.787+208G>T (p.=)
n.1131G>T
n.1172G>T
c.670+1310G>T (p.=)
n.346G>T
c.*778G>T (p.=)
n.592G>T
c.917G>T (p.Arg306Leu)
c.784+208G>T (p.=)
n.409+208G>T (p.=)
n.412+208G>T (p.=)
c.*931G>T (p.=)
c.646+208G>T (p.=)
c.107G>T (p.Arg36Leu)
c.5-30585G>T (p.=)
c.-43-20015G>T (p.=)
c.-99+30735G>T (p.=)
c.872G>T (p.Arg291Leu)
17g.43094536C>GCA10600068BRCA1c.995G>C (p.Arg332Pro)
c.854G>C (p.Arg285Pro)
c.787+208G>C (p.=)
n.1131G>C
n.1172G>C
c.670+1310G>C (p.=)
n.346G>C
c.*778G>C (p.=)
n.592G>C
c.917G>C (p.Arg306Pro)
c.784+208G>C (p.=)
n.409+208G>C (p.=)
n.412+208G>C (p.=)
c.*931G>C (p.=)
c.646+208G>C (p.=)
c.107G>C (p.Arg36Pro)
c.5-30585G>C (p.=)
c.-43-20015G>C (p.=)
c.-99+30735G>C (p.=)
c.872G>C (p.Arg291Pro)
17g.43094536C>TCA004005BRCA1c.995G>A (p.Arg332Gln)
c.854G>A (p.Arg285Gln)
c.787+208G>A (p.=)
n.1131G>A
n.1172G>A
c.670+1310G>A (p.=)
n.346G>A
c.*778G>A (p.=)
n.592G>A
c.917G>A (p.Arg306Gln)
c.784+208G>A (p.=)
n.409+208G>A (p.=)
n.412+208G>A (p.=)
c.*931G>A (p.=)
c.646+208G>A (p.=)
c.107G>A (p.Arg36Gln)
c.5-30585G>A (p.=)
c.-43-20015G>A (p.=)
c.-99+30735G>A (p.=)
c.872G>A (p.Arg291Gln)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
17g.43094537G>ACA004004BRCA1c.994C>T (p.Arg332Trp)
c.853C>T (p.Arg285Trp)
c.787+207C>T (p.=)
n.1130C>T
n.1171C>T
c.670+1309C>T (p.=)
n.345C>T
c.*777C>T (p.=)
n.591C>T
c.916C>T (p.Arg306Trp)
c.784+207C>T (p.=)
n.409+207C>T (p.=)
n.412+207C>T (p.=)
c.*930C>T (p.=)
c.646+207C>T (p.=)
c.106C>T (p.Arg36Trp)
c.5-30586C>T (p.=)
c.-43-20016C>T (p.=)
c.-99+30734C>T (p.=)
c.871C>T (p.Arg291Trp)
ClinVar dbSNP gnomAD COSMIC COSMIC
17g.43094537G>CCA10600069BRCA1c.994C>G (p.Arg332Gly)
c.853C>G (p.Arg285Gly)
c.787+207C>G (p.=)
n.1130C>G
n.1171C>G
c.670+1309C>G (p.=)
n.345C>G
c.*777C>G (p.=)
n.591C>G
c.916C>G (p.Arg306Gly)
c.784+207C>G (p.=)
n.409+207C>G (p.=)
n.412+207C>G (p.=)
c.*930C>G (p.=)
c.646+207C>G (p.=)
c.106C>G (p.Arg36Gly)
c.5-30586C>G (p.=)
c.-43-20016C>G (p.=)
c.-99+30734C>G (p.=)
c.871C>G (p.Arg291Gly)
ClinVar
17g.43094537G>TCA500234050BRCA1c.994C>A (p.Arg332=)
c.853C>A (p.Arg285=)
c.787+207C>A (p.=)
n.1130C>A
n.1171C>A
c.670+1309C>A (p.=)
n.345C>A
c.*777C>A (p.=)
n.591C>A
c.916C>A (p.Arg306=)
c.784+207C>A (p.=)
n.409+207C>A (p.=)
n.412+207C>A (p.=)
c.*930C>A (p.=)
c.646+207C>A (p.=)
c.106C>A (p.Arg36=)
c.5-30586C>A (p.=)
c.-43-20016C>A (p.=)
c.-99+30734C>A (p.=)
c.871C>A (p.Arg291=)
17g.43094538C>ACA10600070BRCA1c.993G>T (p.Arg331Ser)
c.852G>T (p.Arg284Ser)
c.787+206G>T (p.=)
n.1129G>T
n.1170G>T
c.670+1308G>T (p.=)
n.344G>T
c.*776G>T (p.=)
n.590G>T
c.915G>T (p.Arg305Ser)
c.784+206G>T (p.=)
n.409+206G>T (p.=)
n.412+206G>T (p.=)
c.*929G>T (p.=)
c.646+206G>T (p.=)
c.105G>T (p.Arg35Ser)
c.5-30587G>T (p.=)
c.-43-20017G>T (p.=)
c.-99+30733G>T (p.=)
c.870G>T (p.Arg290Ser)
17g.43094538C>GCA004003BRCA1c.993G>C (p.Arg331Ser)
c.852G>C (p.Arg284Ser)
c.787+206G>C (p.=)
n.1129G>C
n.1170G>C
c.670+1308G>C (p.=)
n.344G>C
c.*776G>C (p.=)
n.590G>C
c.915G>C (p.Arg305Ser)
c.784+206G>C (p.=)
n.409+206G>C (p.=)
n.412+206G>C (p.=)
c.*929G>C (p.=)
c.646+206G>C (p.=)
c.105G>C (p.Arg35Ser)
c.5-30587G>C (p.=)
c.-43-20017G>C (p.=)
c.-99+30733G>C (p.=)
c.870G>C (p.Arg290Ser)
ClinVar dbSNP
17g.43094538C>TCA500234051BRCA1c.993G>A (p.Arg331=)
c.852G>A (p.Arg284=)
c.787+206G>A (p.=)
n.1129G>A
n.1170G>A
c.670+1308G>A (p.=)
n.344G>A
c.*776G>A (p.=)
n.590G>A
c.915G>A (p.Arg305=)
c.784+206G>A (p.=)
n.409+206G>A (p.=)
n.412+206G>A (p.=)
c.*929G>A (p.=)
c.646+206G>A (p.=)
c.105G>A (p.Arg35=)
c.5-30587G>A (p.=)
c.-43-20017G>A (p.=)
c.-99+30733G>A (p.=)
c.870G>A (p.Arg290=)
17g.43094539C>ACA10600071BRCA1c.992G>T (p.Arg331Met)
c.851G>T (p.Arg284Met)
c.787+205G>T (p.=)
n.1128G>T
n.1169G>T
c.670+1307G>T (p.=)
n.343G>T
c.*775G>T (p.=)
n.589G>T
c.914G>T (p.Arg305Met)
c.784+205G>T (p.=)
n.409+205G>T (p.=)
n.412+205G>T (p.=)
c.*928G>T (p.=)
c.646+205G>T (p.=)
c.104G>T (p.Arg35Met)
c.5-30588G>T (p.=)
c.-43-20018G>T (p.=)
c.-99+30732G>T (p.=)
c.869G>T (p.Arg290Met)
17g.43094539C>GCA10600072BRCA1c.992G>C (p.Arg331Thr)
c.851G>C (p.Arg284Thr)
c.787+205G>C (p.=)
n.1128G>C
n.1169G>C
c.670+1307G>C (p.=)
n.343G>C
c.*775G>C (p.=)
n.589G>C
c.914G>C (p.Arg305Thr)
c.784+205G>C (p.=)
n.409+205G>C (p.=)
n.412+205G>C (p.=)
c.*928G>C (p.=)
c.646+205G>C (p.=)
c.104G>C (p.Arg35Thr)
c.5-30588G>C (p.=)
c.-43-20018G>C (p.=)
c.-99+30732G>C (p.=)
c.869G>C (p.Arg290Thr)
17g.43094539C>TCA10600073BRCA1c.992G>A (p.Arg331Lys)
c.851G>A (p.Arg284Lys)
c.787+205G>A (p.=)
n.1128G>A
n.1169G>A
c.670+1307G>A (p.=)
n.343G>A
c.*775G>A (p.=)
n.589G>A
c.914G>A (p.Arg305Lys)
c.784+205G>A (p.=)
n.409+205G>A (p.=)
n.412+205G>A (p.=)
c.*928G>A (p.=)
c.646+205G>A (p.=)
c.104G>A (p.Arg35Lys)
c.5-30588G>A (p.=)
c.-43-20018G>A (p.=)
c.-99+30732G>A (p.=)
c.869G>A (p.Arg290Lys)
17g.43094540T>ACA10600074BRCA1c.991A>T (p.Arg331Trp)
c.850A>T (p.Arg284Trp)
c.787+204A>T (p.=)
n.1127A>T
n.1168A>T
c.670+1306A>T (p.=)
n.342A>T
c.*774A>T (p.=)
n.588A>T
c.913A>T (p.Arg305Trp)
c.784+204A>T (p.=)
n.409+204A>T (p.=)
n.412+204A>T (p.=)
c.*927A>T (p.=)
c.646+204A>T (p.=)
c.103A>T (p.Arg35Trp)
c.5-30589A>T (p.=)
c.-43-20019A>T (p.=)
c.-99+30731A>T (p.=)
c.868A>T (p.Arg290Trp)
17g.43094540T>CCA10600075BRCA1c.991A>G (p.Arg331Gly)
c.850A>G (p.Arg284Gly)
c.787+204A>G (p.=)
n.1127A>G
n.1168A>G
c.670+1306A>G (p.=)
n.342A>G
c.*774A>G (p.=)
n.588A>G
c.913A>G (p.Arg305Gly)
c.784+204A>G (p.=)
n.409+204A>G (p.=)
n.412+204A>G (p.=)
c.*927A>G (p.=)
c.646+204A>G (p.=)
c.103A>G (p.Arg35Gly)
c.5-30589A>G (p.=)
c.-43-20019A>G (p.=)
c.-99+30731A>G (p.=)
c.868A>G (p.Arg290Gly)
COSMIC COSMIC
17g.43094540T>GCA500234052BRCA1c.991A>C (p.Arg331=)
c.850A>C (p.Arg284=)
c.787+204A>C (p.=)
n.1127A>C
n.1168A>C
c.670+1306A>C (p.=)
n.342A>C
c.*774A>C (p.=)
n.588A>C
c.913A>C (p.Arg305=)
c.784+204A>C (p.=)
n.409+204A>C (p.=)
n.412+204A>C (p.=)
c.*927A>C (p.=)
c.646+204A>C (p.=)
c.103A>C (p.Arg35=)
c.5-30589A>C (p.=)
c.-43-20019A>C (p.=)
c.-99+30731A>C (p.=)
c.868A>C (p.Arg290=)
17g.43094541A>CCA10600076BRCA1c.990T>G (p.Asp330Glu)
c.849T>G (p.Asp283Glu)
c.787+203T>G (p.=)
n.1126T>G
n.1167T>G
c.670+1305T>G (p.=)
n.341T>G
c.*773T>G (p.=)
n.587T>G
c.912T>G (p.Asp304Glu)
c.784+203T>G (p.=)
n.409+203T>G (p.=)
n.412+203T>G (p.=)
c.*926T>G (p.=)
c.646+203T>G (p.=)
c.102T>G (p.Asp34Glu)
c.5-30590T>G (p.=)
c.-43-20020T>G (p.=)
c.-99+30730T>G (p.=)
c.867T>G (p.Asp289Glu)
17g.43094541A>GCA290846361BRCA1c.990T>C (p.Asp330=)
c.849T>C (p.Asp283=)
c.787+203T>C (p.=)
n.1126T>C
n.1167T>C
c.670+1305T>C (p.=)
n.341T>C
c.*773T>C (p.=)
n.587T>C
c.912T>C (p.Asp304=)
c.784+203T>C (p.=)
n.409+203T>C (p.=)
n.412+203T>C (p.=)
c.*926T>C (p.=)
c.646+203T>C (p.=)
c.102T>C (p.Asp34=)
c.5-30590T>C (p.=)
c.-43-20020T>C (p.=)
c.-99+30730T>C (p.=)
c.867T>C (p.Asp289=)
ClinVar dbSNP gnomAD
17g.43094541A>TCA10600077BRCA1c.990T>A (p.Asp330Glu)
c.849T>A (p.Asp283Glu)
c.787+203T>A (p.=)
n.1126T>A
n.1167T>A
c.670+1305T>A (p.=)
n.341T>A
c.*773T>A (p.=)
n.587T>A
c.912T>A (p.Asp304Glu)
c.784+203T>A (p.=)
n.409+203T>A (p.=)
n.412+203T>A (p.=)
c.*926T>A (p.=)
c.646+203T>A (p.=)
c.102T>A (p.Asp34Glu)
c.5-30590T>A (p.=)
c.-43-20020T>A (p.=)
c.-99+30730T>A (p.=)
c.867T>A (p.Asp289Glu)

Number of alleles fetched