| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093750_43094886del | CA10602596 | BRCA1 | c.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 |
| 17 | g.43094390_43094445del | CA000729 | BRCA1 | c.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 |
| 17 | g.43094421del | CA645509519 | BRCA1 | c.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 |
| 17 | g.43094422A>C | CA10599837 | BRCA1 | c.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) | |
| 17 | g.43094422A>G | CA10599838 | BRCA1 | c.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) | |
| 17 | g.43094422A>T | CA10599839 | BRCA1 | c.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) | |
| 17 | g.43094423C>A | CA10599840 | BRCA1 | c.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) | |
| 17 | g.43094423C>G | CA10599841 | BRCA1 | c.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 |
| 17 | g.43094423C>T | CA10599842 | BRCA1 | c.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 |
| 17 | g.43094423_43094425del | CA000737 | BRCA1 | c.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 |
| 17 | g.43094423_43094424insGA | CA916084306 | BRCA1 | c.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) | |
| 17 | g.43094424A>C | CA10599843 | BRCA1 | c.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) | |
| 17 | g.43094424A>G | CA500233988 | BRCA1 | c.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=) | |
| 17 | g.43094424A>T | CA10599844 | BRCA1 | c.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) | |
| 17 | g.43094423_43094424insAG | CA658824537 | BRCA1 | c.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 |
| 17 | g.43094425T>A | CA10599845 | BRCA1 | c.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 |
| 17 | g.43094425T>C | CA000740 | BRCA1 | c.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 |
| 17 | g.43094425T>G | CA10599846 | BRCA1 | c.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) | |
| 17 | g.43094425_43094426insGA | CA10580680 | BRCA1 | c.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 |
| 17 | g.43094426C>A | CA10599847 | BRCA1 | c.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) | |
| 17 | g.43094426C>G | CA10599848 | BRCA1 | c.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) | |
| 17 | g.43094426C>T | CA000738 | BRCA1 | c.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 |
| 17 | g.43094426dup | CA10586658 | BRCA1 | c.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 |
| 17 | g.43094427T>A | CA10599849 | BRCA1 | c.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) | |
| 17 | g.43094427T>C | CA500233989 | BRCA1 | c.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=) | |
| 17 | g.43094427T>G | CA10599850 | BRCA1 | c.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) | |
| 17 | g.43094427del | CA10589967 | BRCA1 | c.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 |
| 17 | g.43094428T>A | CA10599851 | BRCA1 | c.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) | |
| 17 | g.43094428T>C | CA10599852 | BRCA1 | c.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 |
| 17 | g.43094428T>G | CA10599853 | BRCA1 | c.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) | |
| 17 | g.43094428_43094429insG | CA658824538 | BRCA1 | c.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 |
| 17 | g.43094429C>A | CA000736 | BRCA1 | c.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 |
| 17 | g.43094429C>G | CA10599854 | BRCA1 | c.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) | |
| 17 | g.43094429C>T | CA10599855 | BRCA1 | c.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) | |
| 17 | g.43094429_43094430insG | CA000735 | BRCA1 | c.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 |
| 17 | g.43094430A>C | CA500233990 | BRCA1 | c.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=) | |
| 17 | g.43094430A>G | CA500233991 | BRCA1 | c.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=) | |
| 17 | g.43094430A>T | CA500233992 | BRCA1 | c.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=) | |
| 17 | g.43094431G>A | CA10599856 | BRCA1 | c.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 |
| 17 | g.43094431G>C | CA10599857 | BRCA1 | c.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) | |
| 17 | g.43094431G>T | CA10599858 | BRCA1 | c.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) | |
| 17 | g.43094431dup | CA327718 | BRCA1 | c.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 |
| 17 | g.43094432T>A | CA10599859 | BRCA1 | c.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) | |
| 17 | g.43094432T>C | CA10583583 | BRCA1 | c.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 |
| 17 | g.43094432T>G | CA10599860 | BRCA1 | c.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) | |
| 17 | g.43094432dup | CA327717 | BRCA1 | c.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 |
| 17 | g.43094433A>C | CA10599861 | BRCA1 | c.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) | |
| 17 | g.43094433A>G | CA10580681 | BRCA1 | c.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 |
| 17 | g.43094433A>T | CA10599862 | BRCA1 | c.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) | |
| 17 | g.43094434T>A | CA000733 | BRCA1 | c.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 |