UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32378158_32383530del | CA2580087446 | BRCA2 | c.8755-1159_9256+3385del c.*122-1159_*623+3385del c.8386-1159_8887+3385del c.*317-1159_*818+3385del c.8755-1159_9257-363del c.8755-1159_9205+3385del c.1222-1159_1672+3385del n.882-1159_1383+3385del c.8763-1159_9264+3385del c.1633-1159_2134+3385del c.8659-1159_9160+3385del | ClinVar |
| 13 | g.32378942_32380826del | CA10602552 | BRCA2 | c.8755-375_9256+681del c.*122-375_*623+681del c.8386-375_8887+681del c.*317-375_*818+681del c.8755-375_9205+681del c.1222-375_1672+681del n.882-375_1383+681del c.8763-375_9264+681del c.1633-375_2134+681del c.8659-375_9160+681del | ClinVar |
| 13 | g.32379315_32379819del | CA2499222346 | BRCA2 | c.8755-2_9023del c.*122-2_*390del c.8386-2_8654del c.*317-2_*585del c.8755-2_8972del c.1222-2_1439del n.882-2_1150del c.8763-2_9031del c.1633-2_1901del c.8659-2_8927del c.8755-435_*61del | ClinVar dbSNP |
| 13 | g.32379368_32379392delinsTTGAATGATAAGAAACAAGCTCAGA | CA2082835682 | BRCA2 | c.8806_8830delinsTTGAATGATAAGAAACAAGCTCAGA (p.Leu2936=) c.*173_*197delinsTTGAATGATAAGAAACAAGCTCAGA (n.*173_*197delinsTTGAATGATAAGAAACAAGCTCAGA) c.8437_8461delinsTTGAATGATAAGAAACAAGCTCAGA (p.Leu2813=) c.*368_*392delinsTTGAATGATAAGAAACAAGCTCAGA (n.*368_*392delinsTTGAATGATAAGAAACAAGCTCAGA) c.1273_1297delinsTTGAATGATAAGAAACAAGCTCAGA (p.Leu425=) n.933_957delinsTTGAATGATAAGAAACAAGCTCAGA c.8814_8838delinsTTGAATGATAAGAAACAAGCTCAGA (n.8814_8838delinsTTGAATGATAAGAAACAAGCTCAGA) c.1684_1708delinsTTGAATGATAAGAAACAAGCTCAGA c.368_392delinsTTGAATGATAAGAAACAAGCTCAGA (n.368_392delinsTTGAATGATAAGAAACAAGCTCAGA) c.8710_8734delinsTTGAATGATAAGAAACAAGCTCAGA (p.Leu2904=) c.8755-382_8755-358delinsTTGAATGATAAGAAACAAGCTCAGA (n.8755-382_8755-358delinsTTGAATGATAAGAAACAAGCTCAGA) | |
| 13 | g.32379369_32379370delinsTG | CA2082835695 | BRCA2 | c.8807_8808delinsTG (p.Leu2936=) c.*174_*175delinsTG (n.*174_*175delinsTG) c.8438_8439delinsTG (p.Leu2813=) c.*369_*370delinsTG (n.*369_*370delinsTG) c.1274_1275delinsTG (p.Leu425=) n.934_935delinsTG c.8815_8816delinsTG (n.8815_8816delinsTG) c.1685_1686delinsTG c.369_370delinsTG (n.369_370delinsTG) c.8711_8712delinsTG (p.Leu2904=) c.8755-381_8755-380delinsTG (n.8755-381_8755-380delinsTG) | |
| 13 | g.32379370_32379393del | CA2082835693 | BRCA2 | c.8808_8831del (p.Leu2936_Ile2944delinsPhe) c.*175_*198del (n.*175_*198del) c.8439_8462del (p.Leu2813_Ile2821delinsPhe) c.*370_*393del (n.*370_*393del) c.1275_1298del (p.Leu425_Ile433delinsPhe) n.935_958del c.8816_8839del (n.8816_8839del) c.1686_1709del c.370_393del (n.370_393del) c.8712_8735del (p.Leu2904_Ile2912delinsPhe) c.8755-380_8755-357del (n.8755-380_8755-357del) | ClinVar dbSNP |
| 13 | g.32379370del | CA913190916 | BRCA2 | c.8808del (p.Asn2937MetfsTer?) c.*175del (n.*175del) c.8439del (p.Asn2814MetfsTer?) c.*370del (n.*370del) c.1275del (p.Asn426MetfsTer?) n.935del c.8816del (n.8816del) c.1686del c.370del (n.370del) c.8712del (p.Asn2905MetfsTer?) c.8755-380del (n.8755-380del) | ClinVar dbSNP |
| 13 | g.32379370G>A | CA483261946 | BRCA2 | c.8808G>A (p.Leu2936=) c.*175G>A (n.*175G>A) c.8439G>A (p.Leu2813=) c.*370G>A (n.*370G>A) c.1275G>A (p.Leu425=) n.935G>A c.8816G>A (n.8816G>A) c.1686G>A c.370G>A (n.370G>A) c.8712G>A (p.Leu2904=) c.8755-380G>A (n.8755-380G>A) | dbSNP |
| 13 | g.32379370G>C | CA025832 | BRCA2 | c.8808G>C (p.Leu2936Phe) c.*175G>C (n.*175G>C) c.8439G>C (p.Leu2813Phe) c.*370G>C (n.*370G>C) c.1275G>C (p.Leu425Phe) n.935G>C c.8816G>C (n.8816G>C) c.1686G>C c.370G>C (n.370G>C) c.8712G>C (p.Leu2904Phe) c.8755-380G>C (n.8755-380G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32379370G= | CA2082835704 | BRCA2 | c.8808G= (p.Leu2936=) c.*175G= (n.*175G=) c.8439G= (p.Leu2813=) c.*370G= (n.*370G=) c.1275G= (p.Leu425=) n.935G= c.8816G= (n.8816G=) c.1686G= c.370G= (n.370G=) c.8712G= (p.Leu2904=) c.8755-380G= (n.8755-380G=) | |
| 13 | g.32379370G>T | CA387756040 | BRCA2 | c.8808G>T (p.Leu2936Phe) c.*175G>T (n.*175G>T) c.8439G>T (p.Leu2813Phe) c.*370G>T (n.*370G>T) c.1275G>T (p.Leu425Phe) n.935G>T c.8816G>T (n.8816G>T) c.1686G>T c.370G>T (n.370G>T) c.8712G>T (p.Leu2904Phe) c.8755-380G>T (n.8755-380G>T) | |
| 13 | g.32379371A>C | CA387756047 | BRCA2 | c.8809A>C (p.Asn2937His) c.*176A>C (n.*176A>C) c.8440A>C (p.Asn2814His) c.*371A>C (n.*371A>C) c.1276A>C (p.Asn426His) n.936A>C c.8817A>C (n.8817A>C) c.1687A>C c.371A>C (n.371A>C) c.8713A>C (p.Asn2905His) c.8755-379A>C (n.8755-379A>C) | |
| 13 | g.32379371A>G | CA387756042 | BRCA2 | c.8809A>G (p.Asn2937Asp) c.*176A>G (n.*176A>G) c.8440A>G (p.Asn2814Asp) c.*371A>G (n.*371A>G) c.1276A>G (p.Asn426Asp) n.936A>G c.8817A>G (n.8817A>G) c.1687A>G c.371A>G (n.371A>G) c.8713A>G (p.Asn2905Asp) c.8755-379A>G (n.8755-379A>G) | |
| 13 | g.32379371A>T | CA387756045 | BRCA2 | c.8809A>T (p.Asn2937Tyr) c.*176A>T (n.*176A>T) c.8440A>T (p.Asn2814Tyr) c.*371A>T (n.*371A>T) c.1276A>T (p.Asn426Tyr) n.936A>T c.8817A>T (n.8817A>T) c.1687A>T c.371A>T (n.371A>T) c.8713A>T (p.Asn2905Tyr) c.8755-379A>T (n.8755-379A>T) | dbSNP |
| 13 | g.32379372A>C | CA387756049 | BRCA2 | c.8810A>C (p.Asn2937Thr) c.*177A>C (n.*177A>C) c.8441A>C (p.Asn2814Thr) c.*372A>C (n.*372A>C) c.1277A>C (p.Asn426Thr) n.937A>C c.8818A>C (n.8818A>C) c.1688A>C c.372A>C (n.372A>C) c.8714A>C (p.Asn2905Thr) c.8755-378A>C (n.8755-378A>C) | |
| 13 | g.32379372A>G | CA387756052 | BRCA2 | c.8810A>G (p.Asn2937Ser) c.*177A>G (n.*177A>G) c.8441A>G (p.Asn2814Ser) c.*372A>G (n.*372A>G) c.1277A>G (p.Asn426Ser) n.937A>G c.8818A>G (n.8818A>G) c.1688A>G c.372A>G (n.372A>G) c.8714A>G (p.Asn2905Ser) c.8755-378A>G (n.8755-378A>G) | dbSNP |
| 13 | g.32379372A>T | CA387756054 | BRCA2 | c.8810A>T (p.Asn2937Ile) c.*177A>T (n.*177A>T) c.8441A>T (p.Asn2814Ile) c.*372A>T (n.*372A>T) c.1277A>T (p.Asn426Ile) n.937A>T c.8818A>T (n.8818A>T) c.1688A>T c.372A>T (n.372A>T) c.8714A>T (p.Asn2905Ile) c.8755-378A>T (n.8755-378A>T) | dbSNP |
| 13 | g.32379373T>A | CA387756057 | BRCA2 | c.8811T>A (p.Asn2937Lys) c.*178T>A (n.*178T>A) c.8442T>A (p.Asn2814Lys) c.*373T>A (n.*373T>A) c.1278T>A (p.Asn426Lys) n.938T>A c.8819T>A (n.8819T>A) c.1689T>A c.373T>A (n.373T>A) c.8715T>A (p.Asn2905Lys) c.8755-377T>A (n.8755-377T>A) | dbSNP |
| 13 | g.32379373T>C | CA483261947 | BRCA2 | c.8811T>C (p.Asn2937=) c.*178T>C (n.*178T>C) c.8442T>C (p.Asn2814=) c.*373T>C (n.*373T>C) c.1278T>C (p.Asn426=) n.938T>C c.8819T>C (n.8819T>C) c.1689T>C c.373T>C (n.373T>C) c.8715T>C (p.Asn2905=) c.8755-377T>C (n.8755-377T>C) | ClinVar gnomAD v4 |
| 13 | g.32379373T>G | CA387756059 | BRCA2 | c.8811T>G (p.Asn2937Lys) c.*178T>G (n.*178T>G) c.8442T>G (p.Asn2814Lys) c.*373T>G (n.*373T>G) c.1278T>G (p.Asn426Lys) n.938T>G c.8819T>G (n.8819T>G) c.1689T>G c.373T>G (n.373T>G) c.8715T>G (p.Asn2905Lys) c.8755-377T>G (n.8755-377T>G) | dbSNP |
| 13 | g.32379374G>A | CA387756061 | BRCA2 | c.8812G>A (p.Asp2938Asn) c.*179G>A (n.*179G>A) c.8443G>A (p.Asp2815Asn) c.*374G>A (n.*374G>A) c.1279G>A (p.Asp427Asn) n.939G>A c.8820G>A (n.8820G>A) c.1690G>A c.374G>A (n.374G>A) c.8716G>A (p.Asp2906Asn) c.8755-376G>A (n.8755-376G>A) | ClinVar dbSNP |
| 13 | g.32379374G>C | CA387756064 | BRCA2 | c.8812G>C (p.Asp2938His) c.*179G>C (n.*179G>C) c.8443G>C (p.Asp2815His) c.*374G>C (n.*374G>C) c.1279G>C (p.Asp427His) n.939G>C c.8820G>C (n.8820G>C) c.1690G>C c.374G>C (n.374G>C) c.8716G>C (p.Asp2906His) c.8755-376G>C (n.8755-376G>C) | dbSNP |
| 13 | g.32379374G= | CA2082835711 | BRCA2 | c.8812G= (p.Asp2938=) c.*179G= (n.*179G=) c.8443G= (p.Asp2815=) c.*374G= (n.*374G=) c.1279G= (p.Asp427=) n.939G= c.8820G= (n.8820G=) c.1690G= c.374G= (n.374G=) c.8716G= (p.Asp2906=) c.8755-376G= (n.8755-376G=) | |
| 13 | g.32379374G>T | CA387756065 | BRCA2 | c.8812G>T (p.Asp2938Tyr) c.*179G>T (n.*179G>T) c.8443G>T (p.Asp2815Tyr) c.*374G>T (n.*374G>T) c.1279G>T (p.Asp427Tyr) n.939G>T c.8820G>T (n.8820G>T) c.1690G>T c.374G>T (n.374G>T) c.8716G>T (p.Asp2906Tyr) c.8755-376G>T (n.8755-376G>T) | |
| 13 | g.32379375A= | CA2082835719 | BRCA2 | c.8813A= (p.Asp2938=) c.*180A= (n.*180A=) c.8444A= (p.Asp2815=) c.*375A= (n.*375A=) c.1280A= (p.Asp427=) n.940A= c.8821A= (n.8821A=) c.1691A= c.375A= (n.375A=) c.8717A= (p.Asp2906=) c.8755-375A= (n.8755-375A=) | |
| 13 | g.32379375A>C | CA387756067 | BRCA2 | c.8813A>C (p.Asp2938Ala) c.*180A>C (n.*180A>C) c.8444A>C (p.Asp2815Ala) c.*375A>C (n.*375A>C) c.1280A>C (p.Asp427Ala) n.940A>C c.8821A>C (n.8821A>C) c.1691A>C c.375A>C (n.375A>C) c.8717A>C (p.Asp2906Ala) c.8755-375A>C (n.8755-375A>C) | |
| 13 | g.32379375A>G | CA387756070 | BRCA2 | c.8813A>G (p.Asp2938Gly) c.*180A>G (n.*180A>G) c.8444A>G (p.Asp2815Gly) c.*375A>G (n.*375A>G) c.1280A>G (p.Asp427Gly) n.940A>G c.8821A>G (n.8821A>G) c.1691A>G c.375A>G (n.375A>G) c.8717A>G (p.Asp2906Gly) c.8755-375A>G (n.8755-375A>G) | ClinVar dbSNP |
| 13 | g.32379375A>T | CA387756072 | BRCA2 | c.8813A>T (p.Asp2938Val) c.*180A>T (n.*180A>T) c.8444A>T (p.Asp2815Val) c.*375A>T (n.*375A>T) c.1280A>T (p.Asp427Val) n.940A>T c.8821A>T (n.8821A>T) c.1691A>T c.375A>T (n.375A>T) c.8717A>T (p.Asp2906Val) c.8755-375A>T (n.8755-375A>T) | dbSNP |
| 13 | g.32379376T>A | CA387756075 | BRCA2 | c.8814T>A (p.Asp2938Glu) c.*181T>A (n.*181T>A) c.8445T>A (p.Asp2815Glu) c.*376T>A (n.*376T>A) c.1281T>A (p.Asp427Glu) n.941T>A c.8822T>A (n.8822T>A) c.1692T>A c.376T>A (n.376T>A) c.8718T>A (p.Asp2906Glu) c.8755-374T>A (n.8755-374T>A) | dbSNP |
| 13 | g.32379376T>C | CA6941301 | BRCA2 | c.8814T>C (p.Asp2938=) c.*181T>C (n.*181T>C) c.8445T>C (p.Asp2815=) c.*376T>C (n.*376T>C) c.1281T>C (p.Asp427=) n.941T>C c.8822T>C (n.8822T>C) c.1692T>C c.376T>C (n.376T>C) c.8718T>C (p.Asp2906=) c.8755-374T>C (n.8755-374T>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32379376T>G | CA387756078 | BRCA2 | c.8814T>G (p.Asp2938Glu) c.*181T>G (n.*181T>G) c.8445T>G (p.Asp2815Glu) c.*376T>G (n.*376T>G) c.1281T>G (p.Asp427Glu) n.941T>G c.8822T>G (n.8822T>G) c.1692T>G c.376T>G (n.376T>G) c.8718T>G (p.Asp2906Glu) c.8755-374T>G (n.8755-374T>G) | dbSNP |
| 13 | g.32379376T= | CA2082835728 | BRCA2 | c.8814T= (p.Asp2938=) c.*181T= (n.*181T=) c.8445T= (p.Asp2815=) c.*376T= (n.*376T=) c.1281T= (p.Asp427=) n.941T= c.8822T= (n.8822T=) c.1692T= c.376T= (n.376T=) c.8718T= (p.Asp2906=) c.8755-374T= (n.8755-374T=) | |
| 13 | g.32379376_32379380delinsTAAGA | CA2082835722 | BRCA2 | c.8814_8818delinsTAAGA (p.Asp2938=) c.*181_*185delinsTAAGA (n.*181_*185delinsTAAGA) c.8445_8449delinsTAAGA (p.Asp2815=) c.*376_*380delinsTAAGA (n.*376_*380delinsTAAGA) c.1281_1285delinsTAAGA (p.Asp427=) n.941_945delinsTAAGA c.8822_8826delinsTAAGA (n.8822_8826delinsTAAGA) c.1692_1696delinsTAAGA c.376_380delinsTAAGA (n.376_380delinsTAAGA) c.8718_8722delinsTAAGA (p.Asp2906=) c.8755-374_8755-370delinsTAAGA (n.8755-374_8755-370delinsTAAGA) | |
| 13 | g.32379376_32379383delinsTAAGAAAC | CA2082835724 | BRCA2 | c.8814_8821delinsTAAGAAAC (p.Asp2938=) c.*181_*188delinsTAAGAAAC (n.*181_*188delinsTAAGAAAC) c.8445_8452delinsTAAGAAAC (p.Asp2815=) c.*376_*383delinsTAAGAAAC (n.*376_*383delinsTAAGAAAC) c.1281_1288delinsTAAGAAAC (p.Asp427=) n.941_948delinsTAAGAAAC c.8822_8829delinsTAAGAAAC (n.8822_8829delinsTAAGAAAC) c.1692_1699delinsTAAGAAAC c.376_383delinsTAAGAAAC (n.376_383delinsTAAGAAAC) c.8718_8725delinsTAAGAAAC (p.Asp2906=) c.8755-374_8755-367delinsTAAGAAAC (n.8755-374_8755-367delinsTAAGAAAC) | |
| 13 | g.32379377A>C | CA387756083 | BRCA2 | c.8815A>C (p.Lys2939Gln) c.*182A>C (n.*182A>C) c.8446A>C (p.Lys2816Gln) c.*377A>C (n.*377A>C) c.1282A>C (p.Lys428Gln) n.942A>C c.8823A>C (n.8823A>C) c.1693A>C c.377A>C (n.377A>C) c.8719A>C (p.Lys2907Gln) c.8755-373A>C (n.8755-373A>C) | |
| 13 | g.32379377A>G | CA387756089 | BRCA2 | c.8815A>G (p.Lys2939Glu) c.*182A>G (n.*182A>G) c.8446A>G (p.Lys2816Glu) c.*377A>G (n.*377A>G) c.1282A>G (p.Lys428Glu) n.942A>G c.8823A>G (n.8823A>G) c.1693A>G c.377A>G (n.377A>G) c.8719A>G (p.Lys2907Glu) c.8755-373A>G (n.8755-373A>G) | |
| 13 | g.32379377A>T | CA387756086 | BRCA2 | c.8815A>T (p.Lys2939Ter) c.*182A>T (n.*182A>T) c.8446A>T (p.Lys2816Ter) c.*377A>T (n.*377A>T) c.1282A>T (p.Lys428Ter) n.942A>T c.8823A>T (n.8823A>T) c.1693A>T c.377A>T (n.377A>T) c.8719A>T (p.Lys2907Ter) c.8755-373A>T (n.8755-373A>T) | |
| 13 | g.32379378del | CA2695202211 | BRCA2 | c.8816del (p.Lys2939ArgfsTer?) c.*183del (n.*183del) c.8447del (p.Lys2816ArgfsTer?) c.*378del (n.*378del) c.1283del (p.Lys428ArgfsTer?) n.943del c.8824del (n.8824del) c.1694del c.378del (n.378del) c.8720del (p.Lys2907ArgfsTer?) c.8755-372del (n.8755-372del) | |
| 13 | g.32379379_32379381del | CA2580087458 | BRCA2 | c.8817_8819del (p.Lys2940del) c.*184_*186del (n.*184_*186del) c.8448_8450del (p.Lys2817del) c.*379_*381del (n.*379_*381del) c.1284_1286del (p.Lys429del) n.944_946del c.8825_8827del (n.8825_8827del) c.1695_1697del c.379_381del (n.379_381del) c.8721_8723del (p.Lys2908del) c.8755-371_8755-369del (n.8755-371_8755-369del) | ClinVar |
| 13 | g.32379379_32379382del | CA025834 | BRCA2 | c.8817_8820del (p.Lys2939AsnfsTer?) c.*184_*187del (n.*184_*187del) c.8448_8451del (p.Lys2816AsnfsTer?) c.*379_*382del (n.*379_*382del) c.1284_1287del (p.Lys428AsnfsTer?) n.944_947del c.8825_8828del (n.8825_8828del) c.1695_1698del c.379_382del (n.379_382del) c.8721_8724del (p.Lys2907AsnfsTer?) c.8755-371_8755-368del (n.8755-371_8755-368del) | ClinVar dbSNP |
| 13 | g.32379380_32379386del | CA658656401 | BRCA2 | c.8818_8824del (p.Lys2940LeufsTer?) c.*185_*191del (n.*185_*191del) c.8449_8455del (p.Lys2817LeufsTer?) c.*380_*386del (n.*380_*386del) c.1285_1291del (p.Lys429LeufsTer?) n.945_951del c.8826_8832del (n.8826_8832del) c.1696_1702del c.380_386del (n.380_386del) c.8722_8728del (p.Lys2908LeufsTer?) c.8755-370_8755-364del (n.8755-370_8755-364del) | ClinVar dbSNP |
| 13 | g.32379378A= | CA2082835740 | BRCA2 | c.8816A= (p.Lys2939=) c.*183A= (n.*183A=) c.8447A= (p.Lys2816=) c.*378A= (n.*378A=) c.1283A= (p.Lys428=) n.943A= c.8824A= (n.8824A=) c.1694A= c.378A= (n.378A=) c.8720A= (p.Lys2907=) c.8755-372A= (n.8755-372A=) | |
| 13 | g.32379378A>C | CA387756092 | BRCA2 | c.8816A>C (p.Lys2939Thr) c.*183A>C (n.*183A>C) c.8447A>C (p.Lys2816Thr) c.*378A>C (n.*378A>C) c.1283A>C (p.Lys428Thr) n.943A>C c.8824A>C (n.8824A>C) c.1694A>C c.378A>C (n.378A>C) c.8720A>C (p.Lys2907Thr) c.8755-372A>C (n.8755-372A>C) | |
| 13 | g.32379378A>G | CA6941302 | BRCA2 | c.8816A>G (p.Lys2939Arg) c.*183A>G (n.*183A>G) c.8447A>G (p.Lys2816Arg) c.*378A>G (n.*378A>G) c.1283A>G (p.Lys428Arg) n.943A>G c.8824A>G (n.8824A>G) c.1694A>G c.378A>G (n.378A>G) c.8720A>G (p.Lys2907Arg) c.8755-372A>G (n.8755-372A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32379378A>T | CA387756094 | BRCA2 | c.8816A>T (p.Lys2939Met) c.*183A>T (n.*183A>T) c.8447A>T (p.Lys2816Met) c.*378A>T (n.*378A>T) c.1283A>T (p.Lys428Met) n.943A>T c.8824A>T (n.8824A>T) c.1694A>T c.378A>T (n.378A>T) c.8720A>T (p.Lys2907Met) c.8755-372A>T (n.8755-372A>T) | dbSNP |
| 13 | g.32379379G>A | CA247493148 | BRCA2 | c.8817G>A (p.Lys2939=) c.*184G>A (n.*184G>A) c.8448G>A (p.Lys2816=) c.*379G>A (n.*379G>A) c.1284G>A (p.Lys428=) n.944G>A c.8825G>A (n.8825G>A) c.1695G>A c.379G>A (n.379G>A) c.8721G>A (p.Lys2907=) c.8755-371G>A (n.8755-371G>A) | ClinVar dbSNP |
| 13 | g.32379379G>C | CA025835 | BRCA2 | c.8817G>C (p.Lys2939Asn) c.*184G>C (n.*184G>C) c.8448G>C (p.Lys2816Asn) c.*379G>C (n.*379G>C) c.1284G>C (p.Lys428Asn) n.944G>C c.8825G>C (n.8825G>C) c.1695G>C c.379G>C (n.379G>C) c.8721G>C (p.Lys2907Asn) c.8755-371G>C (n.8755-371G>C) | ClinVar dbSNP |
| 13 | g.32379379G= | CA2082835746 | BRCA2 | c.8817G= (p.Lys2939=) c.*184G= (n.*184G=) c.8448G= (p.Lys2816=) c.*379G= (n.*379G=) c.1284G= (p.Lys428=) n.944G= c.8825G= (n.8825G=) c.1695G= c.379G= (n.379G=) c.8721G= (p.Lys2907=) c.8755-371G= (n.8755-371G=) | |
| 13 | g.32379379G>T | CA387756097 | BRCA2 | c.8817G>T (p.Lys2939Asn) c.*184G>T (n.*184G>T) c.8448G>T (p.Lys2816Asn) c.*379G>T (n.*379G>T) c.1284G>T (p.Lys428Asn) n.944G>T c.8825G>T (n.8825G>T) c.1695G>T c.379G>T (n.379G>T) c.8721G>T (p.Lys2907Asn) c.8755-371G>T (n.8755-371G>T) |