| 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.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 |
| 17 | g.43094438T>C | CA10599873 | BRCA1 | c.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) | |
| 17 | g.43094438T>G | CA500233994 | BRCA1 | c.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=) | |
| 17 | g.43094439A>C | CA500233995 | BRCA1 | c.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=) | |
| 17 | g.43094439A>G | CA500233996 | BRCA1 | c.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 |
| 17 | g.43094439A>T | CA500233997 | BRCA1 | c.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=) | |
| 17 | g.43094439_43094440del | CA658656797 | BRCA1 | c.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 |
| 17 | g.43094439_43094449del | CA000724 | BRCA1 | c.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 |
| 17 | g.43094440G>A | CA10599874 | BRCA1 | c.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) | |
| 17 | g.43094440G>C | CA10599875 | BRCA1 | c.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) | |
| 17 | g.43094440G>T | CA10599876 | BRCA1 | c.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) | |
| 17 | g.43094440del | CA000731 | BRCA1 | c.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 |
| 17 | g.43094441G>A | CA10599877 | BRCA1 | c.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) | |
| 17 | g.43094441G>C | CA10599878 | BRCA1 | c.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) | |
| 17 | g.43094441G>T | CA10580682 | BRCA1 | c.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 |
| 17 | g.43094442A>C | CA10599879 | BRCA1 | c.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) | |
| 17 | g.43094442A>G | CA500233998 | BRCA1 | c.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=) | |
| 17 | g.43094442A>T | CA10599880 | BRCA1 | c.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) | |
| 17 | g.43094443T>A | CA10599881 | BRCA1 | c.1088A>T (p.Asn363Ile) c.947A>T (p.Asn316Ile) c.787+301A>T (p.=) n.1224A>T n.1265A>T c.670+1403A>T (p.=) n.439A>T c.*871A>T (p.=) n.685A>T c.1010A>T (p.Asn337Ile) c.784+301A>T (p.=) n.409+301A>T (p.=) n.412+301A>T (p.=) c.*1024A>T (p.=) c.646+301A>T (p.=) c.200A>T (p.Asn67Ile) c.5-30492A>T (p.=) c.-43-19922A>T (p.=) c.-99+30828A>T (p.=) c.965A>T (p.Asn322Ile) | |
| 17 | g.43094443T>C | CA10599882 | BRCA1 | c.1088A>G (p.Asn363Ser) c.947A>G (p.Asn316Ser) c.787+301A>G (p.=) n.1224A>G n.1265A>G c.670+1403A>G (p.=) n.439A>G c.*871A>G (p.=) n.685A>G c.1010A>G (p.Asn337Ser) c.784+301A>G (p.=) n.409+301A>G (p.=) n.412+301A>G (p.=) c.*1024A>G (p.=) c.646+301A>G (p.=) c.200A>G (p.Asn67Ser) c.5-30492A>G (p.=) c.-43-19922A>G (p.=) c.-99+30828A>G (p.=) c.965A>G (p.Asn322Ser) | |
| 17 | g.43094443T>G | CA10599883 | BRCA1 | c.1088A>C (p.Asn363Thr) c.947A>C (p.Asn316Thr) c.787+301A>C (p.=) n.1224A>C n.1265A>C c.670+1403A>C (p.=) n.439A>C c.*871A>C (p.=) n.685A>C c.1010A>C (p.Asn337Thr) c.784+301A>C (p.=) n.409+301A>C (p.=) n.412+301A>C (p.=) c.*1024A>C (p.=) c.646+301A>C (p.=) c.200A>C (p.Asn67Thr) c.5-30492A>C (p.=) c.-43-19922A>C (p.=) c.-99+30828A>C (p.=) c.965A>C (p.Asn322Thr) | |
| 17 | g.43094443del | CA000730 | BRCA1 | c.1087del (p.Asn363IlefsTer11) c.946del (p.Asn316IlefsTer11) c.787+300del (p.=) n.1223del n.1264del c.670+1402del (p.=) n.438del c.*870del (p.=) n.684del c.1009del (p.Asn337IlefsTer11) c.784+300del (p.=) n.409+300del (p.=) n.412+300del (p.=) c.*1023del (p.=) c.646+300del (p.=) c.199del (p.Asn67IlefsTer11) c.5-30493del (p.=) c.-43-19923del (p.=) c.-99+30827del (p.=) c.964del (p.Asn322IlefsTer11) | ClinVar dbSNP |