| 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.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.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=) | ClinVar |
| 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 |
| 17 | g.43094434T>C | CA10599863 | BRCA1 | c.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) | |
| 17 | g.43094434T>G | CA10599864 | BRCA1 | c.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) | |
| 17 | g.43094435C>A | CA10599865 | BRCA1 | c.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) | |
| 17 | g.43094435C>G | CA10599866 | BRCA1 | c.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 |
| 17 | g.43094435C>T | CA10599867 | BRCA1 | c.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 |
| 17 | g.43094436T>A | CA10599868 | BRCA1 | c.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) | |
| 17 | g.43094436T>C | CA500233993 | BRCA1 | c.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=) | |
| 17 | g.43094436T>G | CA10599869 | BRCA1 | c.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) | |
| 17 | g.43094437C>A | CA10599870 | BRCA1 | c.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 |
| 17 | g.43094437C>G | CA10599871 | BRCA1 | c.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) | |
| 17 | g.43094437C>T | CA10599872 | BRCA1 | c.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 |
| 17 | g.43094438T>A | CA000732 | BRCA1 | c.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 |