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.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32355008_32355015dup | CA2499222273 | BRCA2 | c.7155_7162dup (p.Thr2388IlefsTer9) c.6786_6793dup (p.Thr2265IlefsTer9) n.7155_7162dup c.7059_7066dup (p.Thr2356IlefsTer9) | ClinVar dbSNP |
| 13 | g.32355010C>A | CA387739291 | BRCA2 | c.7157C>A (p.Ser2386Tyr) c.6788C>A (p.Ser2263Tyr) n.7157C>A c.7061C>A (p.Ser2354Tyr) | dbSNP gnomAD v4 |
| 13 | g.32355010C= | CA2082809326 | BRCA2 | c.7157C= (p.Ser2386=) c.6788C= (p.Ser2263=) n.7157C= c.7061C= (p.Ser2354=) | |
| 13 | g.32355010C>G | CA387739292 | BRCA2 | c.7157C>G (p.Ser2386Cys) c.6788C>G (p.Ser2263Cys) n.7157C>G c.7061C>G (p.Ser2354Cys) | dbSNP |
| 13 | g.32355010C>T | CA387739293 | BRCA2 | c.7157C>T (p.Ser2386Phe) c.6788C>T (p.Ser2263Phe) n.7157C>T c.7061C>T (p.Ser2354Phe) | dbSNP |
| 13 | g.32355011T>A | CA483439613 | BRCA2 | c.7158T>A (p.Ser2386=) c.6789T>A (p.Ser2263=) n.7158T>A c.7062T>A (p.Ser2354=) | dbSNP |
| 13 | g.32355011T>C | CA247468407 | BRCA2 | c.7158T>C (p.Ser2386=) c.6789T>C (p.Ser2263=) n.7158T>C c.7062T>C (p.Ser2354=) | dbSNP |
| 13 | g.32355011T>G | CA483439618 | BRCA2 | c.7158T>G (p.Ser2386=) c.6789T>G (p.Ser2263=) n.7158T>G c.7062T>G (p.Ser2354=) | |
| 13 | g.32355011T= | CA2082809330 | BRCA2 | c.7158T= (p.Ser2386=) c.6789T= (p.Ser2263=) n.7158T= c.7062T= (p.Ser2354=) | |
| 13 | g.32355012G>A | CA387739300 | BRCA2 | c.7159G>A (p.Ala2387Thr) c.6790G>A (p.Ala2264Thr) n.7159G>A c.7063G>A (p.Ala2355Thr) | ClinVar dbSNP |
| 13 | g.32355012G>C | CA387739295 | BRCA2 | c.7159G>C (p.Ala2387Pro) c.6790G>C (p.Ala2264Pro) n.7159G>C c.7063G>C (p.Ala2355Pro) | dbSNP |
| 13 | g.32355012G= | CA2082809336 | BRCA2 | c.7159G= (p.Ala2387=) c.6790G= (p.Ala2264=) n.7159G= c.7063G= (p.Ala2355=) | |
| 13 | g.32355012G>T | CA387739296 | BRCA2 | c.7159G>T (p.Ala2387Ser) c.6790G>T (p.Ala2264Ser) n.7159G>T c.7063G>T (p.Ala2355Ser) | dbSNP |
| 13 | g.32355013C>A | CA387739307 | BRCA2 | c.7160C>A (p.Ala2387Asp) c.6791C>A (p.Ala2264Asp) n.7160C>A c.7064C>A (p.Ala2355Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355013C= | CA2082809344 | BRCA2 | c.7160C= (p.Ala2387=) c.6791C= (p.Ala2264=) n.7160C= c.7064C= (p.Ala2355=) | |
| 13 | g.32355013C>G | CA387739314 | BRCA2 | c.7160C>G (p.Ala2387Gly) c.6791C>G (p.Ala2264Gly) n.7160C>G c.7064C>G (p.Ala2355Gly) | dbSNP |
| 13 | g.32355013C>T | CA024915 | BRCA2 | c.7160C>T (p.Ala2387Val) c.6791C>T (p.Ala2264Val) n.7160C>T c.7064C>T (p.Ala2355Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355014T>A | CA483439626 | BRCA2 | c.7161T>A (p.Ala2387=) c.6792T>A (p.Ala2264=) n.7161T>A c.7065T>A (p.Ala2355=) | dbSNP |
| 13 | g.32355014T>C | CA483439622 | BRCA2 | c.7161T>C (p.Ala2387=) c.6792T>C (p.Ala2264=) n.7161T>C c.7065T>C (p.Ala2355=) | dbSNP gnomAD v4 |
| 13 | g.32355014T>G | CA483439621 | BRCA2 | c.7161T>G (p.Ala2387=) c.6792T>G (p.Ala2264=) n.7161T>G c.7065T>G (p.Ala2355=) | |
| 13 | g.32355015A= | CA2082809350 | BRCA2 | c.7162A= (p.Thr2388=) c.6793A= (p.Thr2265=) n.7162A= c.7066A= (p.Thr2356=) | |
| 13 | g.32355015A>C | CA387739345 | BRCA2 | c.7162A>C (p.Thr2388Pro) c.6793A>C (p.Thr2265Pro) n.7162A>C c.7066A>C (p.Thr2356Pro) | dbSNP |
| 13 | g.32355015A>G | CA16613931 | BRCA2 | c.7162A>G (p.Thr2388Ala) c.6793A>G (p.Thr2265Ala) n.7162A>G c.7066A>G (p.Thr2356Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355015A>T | CA387739351 | BRCA2 | c.7162A>T (p.Thr2388Ser) c.6793A>T (p.Thr2265Ser) n.7162A>T c.7066A>T (p.Thr2356Ser) | dbSNP |
| 13 | g.32355016del | CA2580614669 | BRCA2 | c.7163del (p.Thr2388LysfsTer6) c.6794del (p.Thr2265LysfsTer6) n.7163del c.7067del (p.Thr2356LysfsTer6) | ClinVar |
| 13 | g.32355016C>A | CA387739368 | BRCA2 | c.7163C>A (p.Thr2388Lys) c.6794C>A (p.Thr2265Lys) n.7163C>A c.7067C>A (p.Thr2356Lys) | gnomAD v3 gnomAD v4 |
| 13 | g.32355016C= | CA2082809361 | BRCA2 | c.7163C= (p.Thr2388=) c.6794C= (p.Thr2265=) n.7163C= c.7067C= (p.Thr2356=) | |
| 13 | g.32355016C>G | CA387739364 | BRCA2 | c.7163C>G (p.Thr2388Arg) c.6794C>G (p.Thr2265Arg) n.7163C>G c.7067C>G (p.Thr2356Arg) | |
| 13 | g.32355016C>T | CA387739359 | BRCA2 | c.7163C>T (p.Thr2388Ile) c.6794C>T (p.Thr2265Ile) n.7163C>T c.7067C>T (p.Thr2356Ile) | ClinVar dbSNP |
| 13 | g.32355016_32355021delinsCAAGAA | CA2082809360 | BRCA2 | c.7163_7168delinsCAAGAA (p.Thr2388=) c.6794_6799delinsCAAGAA (p.Thr2265=) n.7163_7168delinsCAAGAA c.7067_7072delinsCAAGAA (p.Thr2356=) | |
| 13 | g.32355017A= | CA2082809371 | BRCA2 | c.7164A= (p.Thr2388=) c.6795A= (p.Thr2265=) n.7164A= c.7068A= (p.Thr2356=) | |
| 13 | g.32355017A>C | CA483439630 | BRCA2 | c.7164A>C (p.Thr2388=) c.6795A>C (p.Thr2265=) n.7164A>C c.7068A>C (p.Thr2356=) | |
| 13 | g.32355017A>G | CA483439631 | BRCA2 | c.7164A>G (p.Thr2388=) c.6795A>G (p.Thr2265=) n.7164A>G c.7068A>G (p.Thr2356=) | |
| 13 | g.32355017A>T | CA483439632 | BRCA2 | c.7164A>T (p.Thr2388=) c.6795A>T (p.Thr2265=) n.7164A>T c.7068A>T (p.Thr2356=) | ClinVar dbSNP |
| 13 | g.32355018_32355022del | CA16619758 | BRCA2 | c.7165_7169del (p.Arg2389Ter) c.6796_6800del (p.Arg2266Ter) n.7165_7169del c.7069_7073del (p.Arg2357Ter) | ClinVar dbSNP |
| 13 | g.32355018A>C | CA483439634 | BRCA2 | c.7165A>C (p.Arg2389=) c.6796A>C (p.Arg2266=) n.7165A>C c.7069A>C (p.Arg2357=) | |
| 13 | g.32355018A>G | CA387739394 | BRCA2 | c.7165A>G (p.Arg2389Gly) c.6796A>G (p.Arg2266Gly) n.7165A>G c.7069A>G (p.Arg2357Gly) | ClinVar dbSNP |
| 13 | g.32355018A>T | CA387739385 | BRCA2 | c.7165A>T (p.Arg2389Ter) c.6796A>T (p.Arg2266Ter) n.7165A>T c.7069A>T (p.Arg2357Ter) | |
| 13 | g.32355018_32355019delinsAG | CA2082809381 | BRCA2 | c.7165_7166delinsAG (p.Arg2389=) c.6796_6797delinsAG (p.Arg2266=) n.7165_7166delinsAG c.7069_7070delinsAG (p.Arg2357=) | |
| 13 | g.32355019del | CA024917 | BRCA2 | c.7166del (p.Arg2389LysfsTer5) c.6797del (p.Arg2266LysfsTer5) n.7166del c.7070del (p.Arg2357LysfsTer5) | ClinVar dbSNP |
| 13 | g.32355019G>A | CA387739401 | BRCA2 | c.7166G>A (p.Arg2389Lys) c.6797G>A (p.Arg2266Lys) n.7166G>A c.7070G>A (p.Arg2357Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355019G>C | CA387739399 | BRCA2 | c.7166G>C (p.Arg2389Thr) c.6797G>C (p.Arg2266Thr) n.7166G>C c.7070G>C (p.Arg2357Thr) | dbSNP |
| 13 | g.32355019G= | CA2082809393 | BRCA2 | c.7166G= (p.Arg2389=) c.6797G= (p.Arg2266=) n.7166G= c.7070G= (p.Arg2357=) | |
| 13 | g.32355019G>T | CA387739400 | BRCA2 | c.7166G>T (p.Arg2389Ile) c.6797G>T (p.Arg2266Ile) n.7166G>T c.7070G>T (p.Arg2357Ile) | ClinVar dbSNP |
| 13 | g.32355020A>C | CA387739407 | BRCA2 | c.7167A>C (p.Arg2389Ser) c.6798A>C (p.Arg2266Ser) n.7167A>C c.7071A>C (p.Arg2357Ser) | |
| 13 | g.32355020A>G | CA483439637 | BRCA2 | c.7167A>G (p.Arg2389=) c.6798A>G (p.Arg2266=) n.7167A>G c.7071A>G (p.Arg2357=) | |
| 13 | g.32355020A>T | CA387739408 | BRCA2 | c.7167A>T (p.Arg2389Ser) c.6798A>T (p.Arg2266Ser) n.7167A>T c.7071A>T (p.Arg2357Ser) | dbSNP |
| 13 | g.32355021A= | CA2082809405 | BRCA2 | c.7168A= (p.Asn2390=) c.6799A= (p.Asn2267=) n.7168A= c.7072A= (p.Asn2358=) | |
| 13 | g.32355021A>C | CA387739427 | BRCA2 | c.7168A>C (p.Asn2390His) c.6799A>C (p.Asn2267His) n.7168A>C c.7072A>C (p.Asn2358His) | |
| 13 | g.32355021A>G | CA10579725 | BRCA2 | c.7168A>G (p.Asn2390Asp) c.6799A>G (p.Asn2267Asp) n.7168A>G c.7072A>G (p.Asn2358Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355021A>T | CA387739452 | BRCA2 | c.7168A>T (p.Asn2390Tyr) c.6799A>T (p.Asn2267Tyr) n.7168A>T c.7072A>T (p.Asn2358Tyr) | dbSNP |
| 13 | g.32355022A>C | CA387739458 | BRCA2 | c.7169A>C (p.Asn2390Thr) c.6800A>C (p.Asn2267Thr) n.7169A>C c.7073A>C (p.Asn2358Thr) | |
| 13 | g.32355022A>G | CA387739460 | BRCA2 | c.7169A>G (p.Asn2390Ser) c.6800A>G (p.Asn2267Ser) n.7169A>G c.7073A>G (p.Asn2358Ser) | |
| 13 | g.32355022A>T | CA387739464 | BRCA2 | c.7169A>T (p.Asn2390Ile) c.6800A>T (p.Asn2267Ile) n.7169A>T c.7073A>T (p.Asn2358Ile) | dbSNP |
| 13 | g.32355023T>A | CA387739495 | BRCA2 | c.7170T>A (p.Asn2390Lys) c.6801T>A (p.Asn2267Lys) n.7170T>A c.7074T>A (p.Asn2358Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355023T>C | CA483439645 | BRCA2 | c.7170T>C (p.Asn2390=) c.6801T>C (p.Asn2267=) n.7170T>C c.7074T>C (p.Asn2358=) | ClinVar dbSNP |
| 13 | g.32355023T>G | CA387739499 | BRCA2 | c.7170T>G (p.Asn2390Lys) c.6801T>G (p.Asn2267Lys) n.7170T>G c.7074T>G (p.Asn2358Lys) | dbSNP gnomAD v4 |
| 13 | g.32355023T= | CA2082809416 | BRCA2 | c.7170T= (p.Asn2390=) c.6801T= (p.Asn2267=) n.7170T= c.7074T= (p.Asn2358=) | |
| 13 | g.32355024G>A | CA387739509 | BRCA2 | c.7171G>A (p.Glu2391Lys) c.6802G>A (p.Glu2268Lys) n.7171G>A c.7075G>A (p.Glu2359Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32355024G>C | CA387739507 | BRCA2 | c.7171G>C (p.Glu2391Gln) c.6802G>C (p.Glu2268Gln) n.7171G>C c.7075G>C (p.Glu2359Gln) | dbSNP |
| 13 | g.32355024G>T | CA387739504 | BRCA2 | c.7171G>T (p.Glu2391Ter) c.6802G>T (p.Glu2268Ter) n.7171G>T c.7075G>T (p.Glu2359Ter) | ClinVar |
| 13 | g.32355024_32355025delinsGA | CA2082809423 | BRCA2 | c.7171_7172delinsGA (p.Glu2391=) c.6802_6803delinsGA (p.Glu2268=) n.7171_7172delinsGA c.7075_7076delinsGA (p.Glu2359=) | |
| 13 | g.32355025A= | CA2082809427 | BRCA2 | c.7172A= (p.Glu2391=) c.6803A= (p.Glu2268=) n.7172A= c.7076A= (p.Glu2359=) | |
| 13 | g.32355025A>C | CA387739510 | BRCA2 | c.7172A>C (p.Glu2391Ala) c.6803A>C (p.Glu2268Ala) n.7172A>C c.7076A>C (p.Glu2359Ala) | |
| 13 | g.32355025A>G | CA387739512 | BRCA2 | c.7172A>G (p.Glu2391Gly) c.6803A>G (p.Glu2268Gly) n.7172A>G c.7076A>G (p.Glu2359Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355025A>T | CA387739517 | BRCA2 | c.7172A>T (p.Glu2391Val) c.6803A>T (p.Glu2268Val) n.7172A>T c.7076A>T (p.Glu2359Val) | |
| 13 | g.32355030dup | CA024922 | BRCA2 | c.7177dup (p.Met2393AsnfsTer19) c.6808dup (p.Met2270AsnfsTer19) n.7177dup c.7081dup (p.Met2361AsnfsTer19) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355030del | CA1139770422 | BRCA2 | c.7177del (p.Met2393Ter) c.6808del (p.Met2270Ter) n.7177del c.7081del (p.Met2361Ter) | ClinVar dbSNP |
| 13 | g.32355026A= | CA2082809428 | BRCA2 | c.7173A= (p.Glu2391=) c.6804A= (p.Glu2268=) n.7173A= c.7077A= (p.Glu2359=) | |
| 13 | g.32355026A>C | CA387739522 | BRCA2 | c.7173A>C (p.Glu2391Asp) c.6804A>C (p.Glu2268Asp) n.7173A>C c.7077A>C (p.Glu2359Asp) | ClinVar dbSNP |
| 13 | g.32355026A>G | CA483439654 | BRCA2 | c.7173A>G (p.Glu2391=) c.6804A>G (p.Glu2268=) n.7173A>G c.7077A>G (p.Glu2359=) | ClinVar dbSNP |
| 13 | g.32355026A>T | CA387739525 | BRCA2 | c.7173A>T (p.Glu2391Asp) c.6804A>T (p.Glu2268Asp) n.7173A>T c.7077A>T (p.Glu2359Asp) | dbSNP |
| 13 | g.32355027A= | CA2082809432 | BRCA2 | c.7174A= (p.Lys2392=) c.6805A= (p.Lys2269=) n.7174A= c.7078A= (p.Lys2360=) | |
| 13 | g.32355027A>C | CA387739532 | BRCA2 | c.7174A>C (p.Lys2392Gln) c.6805A>C (p.Lys2269Gln) n.7174A>C c.7078A>C (p.Lys2360Gln) | |
| 13 | g.32355027A>G | CA6941066 | BRCA2 | c.7174A>G (p.Lys2392Glu) c.6805A>G (p.Lys2269Glu) n.7174A>G c.7078A>G (p.Lys2360Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355027A>T | CA387739533 | BRCA2 | c.7174A>T (p.Lys2392Ter) c.6805A>T (p.Lys2269Ter) n.7174A>T c.7078A>T (p.Lys2360Ter) | |
| 13 | g.32355028A= | CA2082809433 | BRCA2 | c.7175A= (p.Lys2392=) c.6806A= (p.Lys2269=) n.7175A= c.7079A= (p.Lys2360=) | |
| 13 | g.32355028A>C | CA387739534 | BRCA2 | c.7175A>C (p.Lys2392Thr) c.6806A>C (p.Lys2269Thr) n.7175A>C c.7079A>C (p.Lys2360Thr) | ClinVar dbSNP |
| 13 | g.32355028A>G | CA387739535 | BRCA2 | c.7175A>G (p.Lys2392Arg) c.6806A>G (p.Lys2269Arg) n.7175A>G c.7079A>G (p.Lys2360Arg) | dbSNP |
| 13 | g.32355028A>T | CA387739536 | BRCA2 | c.7175A>T (p.Lys2392Ile) c.6806A>T (p.Lys2269Ile) n.7175A>T c.7079A>T (p.Lys2360Ile) | |
| 13 | g.32355029A>C | CA387739538 | BRCA2 | c.7176A>C (p.Lys2392Asn) c.6807A>C (p.Lys2269Asn) n.7176A>C c.7080A>C (p.Lys2360Asn) | |
| 13 | g.32355029A>G | CA483439658 | BRCA2 | c.7176A>G (p.Lys2392=) c.6807A>G (p.Lys2269=) n.7176A>G c.7080A>G (p.Lys2360=) | |
| 13 | g.32355029A>T | CA387739542 | BRCA2 | c.7176A>T (p.Lys2392Asn) c.6807A>T (p.Lys2269Asn) n.7176A>T c.7080A>T (p.Lys2360Asn) | dbSNP |
| 13 | g.32355030A= | CA2082809434 | BRCA2 | c.7177A= (p.Met2393=) c.6808A= (p.Met2270=) n.7177A= c.7081A= (p.Met2361=) | |
| 13 | g.32355030A>C | CA387739547 | BRCA2 | c.7177A>C (p.Met2393Leu) c.6808A>C (p.Met2270Leu) n.7177A>C c.7081A>C (p.Met2361Leu) | |
| 13 | g.32355030A>G | CA024924 | BRCA2 | c.7177A>G (p.Met2393Val) c.6808A>G (p.Met2270Val) n.7177A>G c.7081A>G (p.Met2361Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355030A>T | CA387739546 | BRCA2 | c.7177A>T (p.Met2393Leu) c.6808A>T (p.Met2270Leu) n.7177A>T c.7081A>T (p.Met2361Leu) | dbSNP |
| 13 | g.32355030_32355032delinsATG | CA2082809435 | BRCA2 | c.7177_7179delinsATG (p.Met2393=) c.6808_6810delinsATG (p.Met2270=) n.7177_7179delinsATG c.7081_7083delinsATG (p.Met2361=) | |
| 13 | g.32355031T>A | CA387739551 | BRCA2 | c.7178T>A (p.Met2393Lys) c.6809T>A (p.Met2270Lys) n.7178T>A c.7082T>A (p.Met2361Lys) | dbSNP |
| 13 | g.32355031T>C | CA024926 | BRCA2 | c.7178T>C (p.Met2393Thr) c.6809T>C (p.Met2270Thr) n.7178T>C c.7082T>C (p.Met2361Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355031T>G | CA387739554 | BRCA2 | c.7178T>G (p.Met2393Arg) c.6809T>G (p.Met2270Arg) n.7178T>G c.7082T>G (p.Met2361Arg) | |
| 13 | g.32355031T= | CA2082809438 | BRCA2 | c.7178T= (p.Met2393=) c.6809T= (p.Met2270=) n.7178T= c.7082T= (p.Met2361=) | |
| 13 | g.32355031_32355032del | CA919242705 | BRCA2 | c.7178_7179del (p.Met2393LysfsTer18) c.6809_6810del (p.Met2270LysfsTer18) n.7178_7179del c.7082_7083del (p.Met2361LysfsTer18) | dbSNP |
| 13 | g.32355032G>A | CA387739556 | BRCA2 | c.7179G>A (p.Met2393Ile) c.6810G>A (p.Met2270Ile) n.7179G>A c.7083G>A (p.Met2361Ile) | ClinVar dbSNP |
| 13 | g.32355032G>C | CA387739559 | BRCA2 | c.7179G>C (p.Met2393Ile) c.6810G>C (p.Met2270Ile) n.7179G>C c.7083G>C (p.Met2361Ile) | dbSNP |
| 13 | g.32355032G= | CA2082809441 | BRCA2 | c.7179G= (p.Met2393=) c.6810G= (p.Met2270=) n.7179G= c.7083G= (p.Met2361=) | |
| 13 | g.32355032G>T | CA387739570 | BRCA2 | c.7179G>T (p.Met2393Ile) c.6810G>T (p.Met2270Ile) n.7179G>T c.7083G>T (p.Met2361Ile) | ClinVar dbSNP |
| 13 | g.32355033A= | CA2082809474 | BRCA2 | c.7180A= (p.Arg2394=) c.6811A= (p.Arg2271=) n.7180A= c.7084A= (p.Arg2362=) | |
| 13 | g.32355033A>C | CA483439668 | BRCA2 | c.7180A>C (p.Arg2394=) c.6811A>C (p.Arg2271=) n.7180A>C c.7084A>C (p.Arg2362=) | |
| 13 | g.32355033A>G | CA387739584 | BRCA2 | c.7180A>G (p.Arg2394Gly) c.6811A>G (p.Arg2271Gly) n.7180A>G c.7084A>G (p.Arg2362Gly) | dbSNP |
| 13 | g.32355033A>T | CA024928 | BRCA2 | c.7180A>T (p.Arg2394Ter) c.6811A>T (p.Arg2271Ter) n.7180A>T c.7084A>T (p.Arg2362Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355034G>A | CA387739589 | BRCA2 | c.7181G>A (p.Arg2394Lys) c.6812G>A (p.Arg2271Lys) n.7181G>A c.7085G>A (p.Arg2362Lys) | ClinVar dbSNP |
| 13 | g.32355034G>C | CA387739591 | BRCA2 | c.7181G>C (p.Arg2394Thr) c.6812G>C (p.Arg2271Thr) n.7181G>C c.7085G>C (p.Arg2362Thr) | dbSNP gnomAD v4 |
| 13 | g.32355034G>T | CA387739593 | BRCA2 | c.7181G>T (p.Arg2394Ile) c.6812G>T (p.Arg2271Ile) n.7181G>T c.7085G>T (p.Arg2362Ile) | dbSNP |
| 13 | g.32355035A= | CA2082809480 | BRCA2 | c.7182A= (p.Arg2394=) c.6813A= (p.Arg2271=) n.7182A= c.7086A= (p.Arg2362=) | |
| 13 | g.32355035A>C | CA387739595 | BRCA2 | c.7182A>C (p.Arg2394Ser) c.6813A>C (p.Arg2271Ser) n.7182A>C c.7086A>C (p.Arg2362Ser) | dbSNP |
| 13 | g.32355035A>G | CA024931 | BRCA2 | c.7182A>G (p.Arg2394=) c.6813A>G (p.Arg2271=) n.7182A>G c.7086A>G (p.Arg2362=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355035A>T | CA387739600 | BRCA2 | c.7182A>T (p.Arg2394Ser) c.6813A>T (p.Arg2271Ser) n.7182A>T c.7086A>T (p.Arg2362Ser) | dbSNP |
| 13 | g.32355035_32355036delinsAC | CA2082809483 | BRCA2 | c.7182_7183delinsAC (p.Arg2394=) c.6813_6814delinsAC (p.Arg2271=) n.7182_7183delinsAC c.7086_7087delinsAC (p.Arg2362=) | |
| 13 | g.32355036del | CA024933 | BRCA2 | c.7183del (p.His2395ThrfsTer2) c.6814del (p.His2272ThrfsTer2) n.7183del c.7087del (p.His2363ThrfsTer2) | ClinVar dbSNP |
| 13 | g.32355036C>A | CA387739619 | BRCA2 | c.7183C>A (p.His2395Asn) c.6814C>A (p.His2272Asn) n.7183C>A c.7087C>A (p.His2363Asn) | |
| 13 | g.32355036C= | CA2082809495 | BRCA2 | c.7183C= (p.His2395=) c.6814C= (p.His2272=) n.7183C= c.7087C= (p.His2363=) | |
| 13 | g.32355036C>G | CA387739636 | BRCA2 | c.7183C>G (p.His2395Asp) c.6814C>G (p.His2272Asp) n.7183C>G c.7087C>G (p.His2363Asp) | |
| 13 | g.32355036C>T | CA387739629 | BRCA2 | c.7183C>T (p.His2395Tyr) c.6814C>T (p.His2272Tyr) n.7183C>T c.7087C>T (p.His2363Tyr) | ClinVar dbSNP |
| 13 | g.32355036_32355040delinsCACTT | CA2082809492 | BRCA2 | c.7183_7187delinsCACTT (p.His2395=) c.6814_6818delinsCACTT (p.His2272=) n.7183_7187delinsCACTT c.7087_7091delinsCACTT (p.His2363=) | |
| 13 | g.32355037A= | CA2082809505 | BRCA2 | c.7184A= (p.His2395=) c.6815A= (p.His2272=) n.7184A= c.7088A= (p.His2363=) | |
| 13 | g.32355037A>C | CA387739641 | BRCA2 | c.7184A>C (p.His2395Pro) c.6815A>C (p.His2272Pro) n.7184A>C c.7088A>C (p.His2363Pro) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355037A>G | CA387739645 | BRCA2 | c.7184A>G (p.His2395Arg) c.6815A>G (p.His2272Arg) n.7184A>G c.7088A>G (p.His2363Arg) | ClinVar dbSNP |
| 13 | g.32355037A>T | CA387739651 | BRCA2 | c.7184A>T (p.His2395Leu) c.6815A>T (p.His2272Leu) n.7184A>T c.7088A>T (p.His2363Leu) | dbSNP |
| 13 | g.32355037_32355040del | CA10586569 | BRCA2 | c.7184_7187del (p.His2395ArgfsTer?) c.6815_6818del (p.His2272ArgfsTer?) n.7184_7187del c.7088_7091del (p.His2363ArgfsTer?) | ClinVar dbSNP |
| 13 | g.32355037_32355043delinsACTTGAT | CA2082809510 | BRCA2 | c.7184_7190delinsACTTGAT (p.His2395=) c.6815_6821delinsACTTGAT (p.His2272=) n.7184_7190delinsACTTGAT c.7088_7094delinsACTTGAT (p.His2363=) | |
| 13 | g.32355038C>A | CA024938 | BRCA2 | c.7185C>A (p.His2395Gln) c.6816C>A (p.His2272Gln) n.7185C>A c.7089C>A (p.His2363Gln) | ClinVar dbSNP |
| 13 | g.32355038C= | CA2082809520 | BRCA2 | c.7185C= (p.His2395=) c.6816C= (p.His2272=) n.7185C= c.7089C= (p.His2363=) | |
| 13 | g.32355038C>G | CA387739669 | BRCA2 | c.7185C>G (p.His2395Gln) c.6816C>G (p.His2272Gln) n.7185C>G c.7089C>G (p.His2363Gln) | dbSNP |
| 13 | g.32355038C>T | CA10585899 | BRCA2 | c.7185C>T (p.His2395=) c.6816C>T (p.His2272=) n.7185C>T c.7089C>T (p.His2363=) | ClinVar dbSNP |
| 13 | g.32355038_32355040delinsCTT | CA2082809527 | BRCA2 | c.7185_7187delinsCTT (p.His2395=) c.6816_6818delinsCTT (p.His2272=) n.7185_7187delinsCTT c.7089_7091delinsCTT (p.His2363=) | |
| 13 | g.32355038_32355041del | CA2697551752 | BRCA2 | c.7185_7188del (p.His2395GlnfsTer?) c.6816_6819del (p.His2272GlnfsTer?) n.7185_7188del c.7089_7092del (p.His2363GlnfsTer?) | ClinVar |
| 13 | g.32355038_32355043delinsAG | CA024935 | BRCA2 | c.7185_7190delinsAG (p.His2395GlnfsTer?) c.6816_6821delinsAG (p.His2272GlnfsTer?) n.7185_7190delinsAG c.7089_7094delinsAG (p.His2363GlnfsTer?) | ClinVar dbSNP |
| 13 | g.32355039T>A | CA387739684 | BRCA2 | c.7186T>A (p.Leu2396Met) c.6817T>A (p.Leu2273Met) n.7186T>A c.7090T>A (p.Leu2364Met) | dbSNP |
| 13 | g.32355039T>C | CA483439683 | BRCA2 | c.7186T>C (p.Leu2396=) c.6817T>C (p.Leu2273=) n.7186T>C c.7090T>C (p.Leu2364=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355039T>G | CA387739696 | BRCA2 | c.7186T>G (p.Leu2396Val) c.6817T>G (p.Leu2273Val) n.7186T>G c.7090T>G (p.Leu2364Val) | |
| 13 | g.32355039T= | CA2082809537 | BRCA2 | c.7186T= (p.Leu2396=) c.6817T= (p.Leu2273=) n.7186T= c.7090T= (p.Leu2364=) | |
| 13 | g.32355039_32355040del | CA658683838 | BRCA2 | c.7186_7187del (p.Leu2396AspfsTer15) c.6817_6818del (p.Leu2273AspfsTer15) n.7186_7187del c.7090_7091del (p.Leu2364AspfsTer15) | ClinVar dbSNP |
| 13 | g.32355040dup | CA024940 | BRCA2 | c.7187dup (p.Leu2396PhefsTer16) c.6818dup (p.Leu2273PhefsTer16) n.7187dup c.7091dup (p.Leu2364PhefsTer16) | ClinVar dbSNP |
| 13 | g.32355040T>A | CA10589415 | BRCA2 | c.7187T>A (p.Leu2396Ter) c.6818T>A (p.Leu2273Ter) n.7187T>A c.7091T>A (p.Leu2364Ter) | ClinVar dbSNP |
| 13 | g.32355040T>C | CA10579726 | BRCA2 | c.7187T>C (p.Leu2396Ser) c.6818T>C (p.Leu2273Ser) n.7187T>C c.7091T>C (p.Leu2364Ser) | ClinVar dbSNP |
| 13 | g.32355040T>G | CA387739731 | BRCA2 | c.7187T>G (p.Leu2396Trp) c.6818T>G (p.Leu2273Trp) n.7187T>G c.7091T>G (p.Leu2364Trp) | |
| 13 | g.32355040T= | CA2082809556 | BRCA2 | c.7187T= (p.Leu2396=) c.6818T= (p.Leu2273=) n.7187T= c.7091T= (p.Leu2364=) | |
| 13 | g.32355041G>A | CA024943 | BRCA2 | c.7188G>A (p.Leu2396=) c.6819G>A (p.Leu2273=) n.7188G>A c.7092G>A (p.Leu2364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355041G>C | CA387739746 | BRCA2 | c.7188G>C (p.Leu2396Phe) c.6819G>C (p.Leu2273Phe) n.7188G>C c.7092G>C (p.Leu2364Phe) | dbSNP |
| 13 | g.32355041G= | CA2082809566 | BRCA2 | c.7188G= (p.Leu2396=) c.6819G= (p.Leu2273=) n.7188G= c.7092G= (p.Leu2364=) | |
| 13 | g.32355041G>T | CA024945 | BRCA2 | c.7188G>T (p.Leu2396Phe) c.6819G>T (p.Leu2273Phe) n.7188G>T c.7092G>T (p.Leu2364Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355042A>C | CA387739752 | BRCA2 | c.7189A>C (p.Ile2397Leu) c.6820A>C (p.Ile2274Leu) n.7189A>C c.7093A>C (p.Ile2365Leu) | |
| 13 | g.32355042A>G | CA387739754 | BRCA2 | c.7189A>G (p.Ile2397Val) c.6820A>G (p.Ile2274Val) n.7189A>G c.7093A>G (p.Ile2365Val) | dbSNP |
| 13 | g.32355042A>T | CA387739755 | BRCA2 | c.7189A>T (p.Ile2397Phe) c.6820A>T (p.Ile2274Phe) n.7189A>T c.7093A>T (p.Ile2365Phe) | |
| 13 | g.32355042_32355043delinsAT | CA2082809582 | BRCA2 | c.7189_7190delinsAT (p.Ile2397=) c.6820_6821delinsAT (p.Ile2274=) n.7189_7190delinsAT c.7093_7094delinsAT (p.Ile2365=) | |
| 13 | g.32355043T>A | CA387739757 | BRCA2 | c.7190T>A (p.Ile2397Asn) c.6821T>A (p.Ile2274Asn) n.7190T>A c.7094T>A (p.Ile2365Asn) | |
| 13 | g.32355043T>C | CA387739759 | BRCA2 | c.7190T>C (p.Ile2397Thr) c.6821T>C (p.Ile2274Thr) n.7190T>C c.7094T>C (p.Ile2365Thr) | |
| 13 | g.32355043T>G | CA387739763 | BRCA2 | c.7190T>G (p.Ile2397Ser) c.6821T>G (p.Ile2274Ser) n.7190T>G c.7094T>G (p.Ile2365Ser) | ClinVar |
| 13 | g.32355044dup | CA891844181 | BRCA2 | c.7191dup (p.Thr2398TyrfsTer14) c.6822dup (p.Thr2275TyrfsTer14) n.7191dup c.7095dup (p.Thr2366TyrfsTer14) | ClinVar dbSNP |
| 13 | g.32355044del | CA10589416 | BRCA2 | c.7191del (p.Thr2398LeufsTer?) c.6822del (p.Thr2275LeufsTer?) n.7191del c.7095del (p.Thr2366LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355044_32355047del | CA2622599903 | BRCA2 | c.7191_7194del (p.Thr2398GlnfsTer?) c.6822_6825del (p.Thr2275GlnfsTer?) n.7191_7194del c.7095_7098del (p.Thr2366GlnfsTer?) | gnomAD v4 |
| 13 | g.32355044T>A | CA6941067 | BRCA2 | c.7191T>A (p.Ile2397=) c.6822T>A (p.Ile2274=) n.7191T>A c.7095T>A (p.Ile2365=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355044T>C | CA6941068 | BRCA2 | c.7191T>C (p.Ile2397=) c.6822T>C (p.Ile2274=) n.7191T>C c.7095T>C (p.Ile2365=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355044T>G | CA387739782 | BRCA2 | c.7191T>G (p.Ile2397Met) c.6822T>G (p.Ile2274Met) n.7191T>G c.7095T>G (p.Ile2365Met) | |
| 13 | g.32355044T= | CA2082809597 | BRCA2 | c.7191T= (p.Ile2397=) c.6822T= (p.Ile2274=) n.7191T= c.7095T= (p.Ile2365=) | |
| 13 | g.32355045A>C | CA387739799 | BRCA2 | c.7192A>C (p.Thr2398Pro) c.6823A>C (p.Thr2275Pro) n.7192A>C c.7096A>C (p.Thr2366Pro) | |
| 13 | g.32355045A>G | CA387739783 | BRCA2 | c.7192A>G (p.Thr2398Ala) c.6823A>G (p.Thr2275Ala) n.7192A>G c.7096A>G (p.Thr2366Ala) | dbSNP |
| 13 | g.32355045A>T | CA387739788 | BRCA2 | c.7192A>T (p.Thr2398Ser) c.6823A>T (p.Thr2275Ser) n.7192A>T c.7096A>T (p.Thr2366Ser) | dbSNP |
| 13 | g.32355046C>A | CA387739802 | BRCA2 | c.7193C>A (p.Thr2398Asn) c.6824C>A (p.Thr2275Asn) n.7193C>A c.7097C>A (p.Thr2366Asn) | dbSNP |
| 13 | g.32355046C= | CA2082809611 | BRCA2 | c.7193C= (p.Thr2398=) c.6824C= (p.Thr2275=) n.7193C= c.7097C= (p.Thr2366=) | |
| 13 | g.32355046C>G | CA024947 | BRCA2 | c.7193C>G (p.Thr2398Ser) c.6824C>G (p.Thr2275Ser) n.7193C>G c.7097C>G (p.Thr2366Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355046C>T | CA387739812 | BRCA2 | c.7193C>T (p.Thr2398Ile) c.6824C>T (p.Thr2275Ile) n.7193C>T c.7097C>T (p.Thr2366Ile) | ClinVar dbSNP |
| 13 | g.32355047T>A | CA483439699 | BRCA2 | c.7194T>A (p.Thr2398=) c.6825T>A (p.Thr2275=) n.7194T>A c.7098T>A (p.Thr2366=) | dbSNP |
| 13 | g.32355047T>C | CA483439698 | BRCA2 | c.7194T>C (p.Thr2398=) c.6825T>C (p.Thr2275=) n.7194T>C c.7098T>C (p.Thr2366=) | ClinVar dbSNP |
| 13 | g.32355047T>G | CA483439697 | BRCA2 | c.7194T>G (p.Thr2398=) c.6825T>G (p.Thr2275=) n.7194T>G c.7098T>G (p.Thr2366=) | ClinVar |
| 13 | g.32355048A= | CA2082809618 | BRCA2 | c.7195A= (p.Thr2399=) c.6826A= (p.Thr2276=) n.7195A= c.7099A= (p.Thr2367=) | |
| 13 | g.32355048A>C | CA387739816 | BRCA2 | c.7195A>C (p.Thr2399Pro) c.6826A>C (p.Thr2276Pro) n.7195A>C c.7099A>C (p.Thr2367Pro) | dbSNP |
| 13 | g.32355048A>G | CA024949 | BRCA2 | c.7195A>G (p.Thr2399Ala) c.6826A>G (p.Thr2276Ala) n.7195A>G c.7099A>G (p.Thr2367Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355048A>T | CA387739825 | BRCA2 | c.7195A>T (p.Thr2399Ser) c.6826A>T (p.Thr2276Ser) n.7195A>T c.7099A>T (p.Thr2367Ser) | dbSNP |
| 13 | g.32355049C>A | CA387739826 | BRCA2 | c.7196C>A (p.Thr2399Lys) c.6827C>A (p.Thr2276Lys) n.7196C>A c.7100C>A (p.Thr2367Lys) | dbSNP |
| 13 | g.32355049C= | CA2082809626 | BRCA2 | c.7196C= (p.Thr2399=) c.6827C= (p.Thr2276=) n.7196C= c.7100C= (p.Thr2367=) | |
| 13 | g.32355049C>G | CA387739827 | BRCA2 | c.7196C>G (p.Thr2399Arg) c.6827C>G (p.Thr2276Arg) n.7196C>G c.7100C>G (p.Thr2367Arg) | dbSNP |
| 13 | g.32355049C>T | CA024951 | BRCA2 | c.7196C>T (p.Thr2399Ile) c.6827C>T (p.Thr2276Ile) n.7196C>T c.7100C>T (p.Thr2367Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355050A= | CA2082809637 | BRCA2 | c.7197A= (p.Thr2399=) c.6828A= (p.Thr2276=) n.7197A= c.7101A= (p.Thr2367=) | |
| 13 | g.32355050A>C | CA483439702 | BRCA2 | c.7197A>C (p.Thr2399=) c.6828A>C (p.Thr2276=) n.7197A>C c.7101A>C (p.Thr2367=) | |
| 13 | g.32355050A>G | CA483439703 | BRCA2 | c.7197A>G (p.Thr2399=) c.6828A>G (p.Thr2276=) n.7197A>G c.7101A>G (p.Thr2367=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32355050A>T | CA483439704 | BRCA2 | c.7197A>T (p.Thr2399=) c.6828A>T (p.Thr2276=) n.7197A>T c.7101A>T (p.Thr2367=) | dbSNP |
| 13 | g.32355051G>A | CA387739832 | BRCA2 | c.7198G>A (p.Gly2400Ser) c.6829G>A (p.Gly2277Ser) n.7198G>A c.7102G>A (p.Gly2368Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355051G>C | CA387739836 | BRCA2 | c.7198G>C (p.Gly2400Arg) c.6829G>C (p.Gly2277Arg) n.7198G>C c.7102G>C (p.Gly2368Arg) | dbSNP |
| 13 | g.32355051G= | CA2082809646 | BRCA2 | c.7198G= (p.Gly2400=) c.6829G= (p.Gly2277=) n.7198G= c.7102G= (p.Gly2368=) | |
| 13 | g.32355051G>T | CA387739849 | BRCA2 | c.7198G>T (p.Gly2400Cys) c.6829G>T (p.Gly2277Cys) n.7198G>T c.7102G>T (p.Gly2368Cys) | |
| 13 | g.32355052G>A | CA247468512 | BRCA2 | c.7199G>A (p.Gly2400Asp) c.6830G>A (p.Gly2277Asp) n.7199G>A c.7103G>A (p.Gly2368Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355052G>C | CA387739856 | BRCA2 | c.7199G>C (p.Gly2400Ala) c.6830G>C (p.Gly2277Ala) n.7199G>C c.7103G>C (p.Gly2368Ala) | dbSNP |
| 13 | g.32355052G= | CA2082809660 | BRCA2 | c.7199G= (p.Gly2400=) c.6830G= (p.Gly2277=) n.7199G= c.7103G= (p.Gly2368=) | |
| 13 | g.32355052G>T | CA387739854 | BRCA2 | c.7199G>T (p.Gly2400Val) c.6830G>T (p.Gly2277Val) n.7199G>T c.7103G>T (p.Gly2368Val) | |
| 13 | g.32355053C>A | CA6941069 | BRCA2 | c.7200C>A (p.Gly2400=) c.6831C>A (p.Gly2277=) n.7200C>A c.7104C>A (p.Gly2368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355053C= | CA2082809662 | BRCA2 | c.7200C= (p.Gly2400=) c.6831C= (p.Gly2277=) n.7200C= c.7104C= (p.Gly2368=) | |
| 13 | g.32355053C>G | CA483439709 | BRCA2 | c.7200C>G (p.Gly2400=) c.6831C>G (p.Gly2277=) n.7200C>G c.7104C>G (p.Gly2368=) | dbSNP |
| 13 | g.32355053C>T | CA483439711 | BRCA2 | c.7200C>T (p.Gly2400=) c.6831C>T (p.Gly2277=) n.7200C>T c.7104C>T (p.Gly2368=) | dbSNP |
| 13 | g.32355054A= | CA2082809670 | BRCA2 | c.7201A= (p.Arg2401=) c.6832A= (p.Arg2278=) n.7201A= c.7105A= (p.Arg2369=) | |
| 13 | g.32355054A>C | CA483439713 | BRCA2 | c.7201A>C (p.Arg2401=) c.6832A>C (p.Arg2278=) n.7201A>C c.7105A>C (p.Arg2369=) | |
| 13 | g.32355054A>G | CA387739871 | BRCA2 | c.7201A>G (p.Arg2401Gly) c.6832A>G (p.Arg2278Gly) n.7201A>G c.7105A>G (p.Arg2369Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355054A>T | CA387739874 | BRCA2 | c.7201A>T (p.Arg2401Ter) c.6832A>T (p.Arg2278Ter) n.7201A>T c.7105A>T (p.Arg2369Ter) | |
| 13 | g.32355054_32355066del | CA2580087404 | BRCA2 | c.7201_7213del (p.Arg2401SerfsTer?) c.6832_6844del (p.Arg2278SerfsTer?) n.7201_7213del c.7105_7117del (p.Arg2369SerfsTer?) | ClinVar |
| 13 | g.32355055G>A | CA387739877 | BRCA2 | c.7202G>A (p.Arg2401Lys) c.6833G>A (p.Arg2278Lys) n.7202G>A c.7106G>A (p.Arg2369Lys) | |
| 13 | g.32355055G>C | CA387739879 | BRCA2 | c.7202G>C (p.Arg2401Thr) c.6833G>C (p.Arg2278Thr) n.7202G>C c.7106G>C (p.Arg2369Thr) | |
| 13 | g.32355055G>T | CA387739885 | BRCA2 | c.7202G>T (p.Arg2401Ile) c.6833G>T (p.Arg2278Ile) n.7202G>T c.7106G>T (p.Arg2369Ile) | |
| 13 | g.32355055_32355059delinsGACCA | CA2082809674 | BRCA2 | c.7202_7206delinsGACCA (p.Arg2401=) c.6833_6837delinsGACCA (p.Arg2278=) n.7202_7206delinsGACCA c.7106_7110delinsGACCA (p.Arg2369=) | |
| 13 | g.32355056A>C | CA387739897 | BRCA2 | c.7203A>C (p.Arg2401Ser) c.6834A>C (p.Arg2278Ser) n.7203A>C c.7107A>C (p.Arg2369Ser) | |
| 13 | g.32355056A>G | CA483439718 | BRCA2 | c.7203A>G (p.Arg2401=) c.6834A>G (p.Arg2278=) n.7203A>G c.7107A>G (p.Arg2369=) | |
| 13 | g.32355056A>T | CA387739902 | BRCA2 | c.7203A>T (p.Arg2401Ser) c.6834A>T (p.Arg2278Ser) n.7203A>T c.7107A>T (p.Arg2369Ser) | |
| 13 | g.32355061_32355064del | CA024961 | BRCA2 | c.7208_7211del (p.Thr2403LysfsTer?) c.6839_6842del (p.Thr2280LysfsTer?) n.7208_7211del c.7112_7115del (p.Thr2371LysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32355057C>A | CA387739909 | BRCA2 | c.7204C>A (p.Pro2402Thr) c.6835C>A (p.Pro2279Thr) n.7204C>A c.7108C>A (p.Pro2370Thr) | dbSNP |
| 13 | g.32355057C>G | CA387739911 | BRCA2 | c.7204C>G (p.Pro2402Ala) c.6835C>G (p.Pro2279Ala) n.7204C>G c.7108C>G (p.Pro2370Ala) | dbSNP |
| 13 | g.32355057C>T | CA387739917 | BRCA2 | c.7204C>T (p.Pro2402Ser) c.6835C>T (p.Pro2279Ser) n.7204C>T c.7108C>T (p.Pro2370Ser) | dbSNP |
| 13 | g.32355058C>A | CA387739921 | BRCA2 | c.7205C>A (p.Pro2402Gln) c.6836C>A (p.Pro2279Gln) n.7205C>A c.7109C>A (p.Pro2370Gln) | dbSNP |
| 13 | g.32355058C= | CA2082809688 | BRCA2 | c.7205C= (p.Pro2402=) c.6836C= (p.Pro2279=) n.7205C= c.7109C= (p.Pro2370=) | |
| 13 | g.32355058C>G | CA387739943 | BRCA2 | c.7205C>G (p.Pro2402Arg) c.6836C>G (p.Pro2279Arg) n.7205C>G c.7109C>G (p.Pro2370Arg) | ClinVar dbSNP |
| 13 | g.32355058C>T | CA387739924 | BRCA2 | c.7205C>T (p.Pro2402Leu) c.6836C>T (p.Pro2279Leu) n.7205C>T c.7109C>T (p.Pro2370Leu) | ClinVar dbSNP |
| 13 | g.32355059A= | CA2082809698 | BRCA2 | c.7206A= (p.Pro2402=) c.6837A= (p.Pro2279=) n.7206A= c.7110A= (p.Pro2370=) | |
| 13 | g.32355059A>C | CA483439723 | BRCA2 | c.7206A>C (p.Pro2402=) c.6837A>C (p.Pro2279=) n.7206A>C c.7110A>C (p.Pro2370=) | |
| 13 | g.32355059A>G | CA483439724 | BRCA2 | c.7206A>G (p.Pro2402=) c.6837A>G (p.Pro2279=) n.7206A>G c.7110A>G (p.Pro2370=) | ClinVar dbSNP |
| 13 | g.32355059A>T | CA483439725 | BRCA2 | c.7206A>T (p.Pro2402=) c.6837A>T (p.Pro2279=) n.7206A>T c.7110A>T (p.Pro2370=) | dbSNP |
| 13 | g.32355060dup | CA916080532 | BRCA2 | c.7207dup (p.Thr2403AsnfsTer9) c.6838dup (p.Thr2280AsnfsTer9) n.7207dup c.7111dup (p.Thr2371AsnfsTer9) | ClinVar dbSNP |
| 13 | g.32355060A= | CA2082809702 | BRCA2 | c.7207A= (p.Thr2403=) c.6838A= (p.Thr2280=) n.7207A= c.7111A= (p.Thr2371=) | |
| 13 | g.32355060A>C | CA387739945 | BRCA2 | c.7207A>C (p.Thr2403Pro) c.6838A>C (p.Thr2280Pro) n.7207A>C c.7111A>C (p.Thr2371Pro) | |
| 13 | g.32355060A>G | CA024960 | BRCA2 | c.7207A>G (p.Thr2403Ala) c.6838A>G (p.Thr2280Ala) n.7207A>G c.7111A>G (p.Thr2371Ala) | ClinVar dbSNP |
| 13 | g.32355060A>T | CA387739946 | BRCA2 | c.7207A>T (p.Thr2403Ser) c.6838A>T (p.Thr2280Ser) n.7207A>T c.7111A>T (p.Thr2371Ser) | |
| 13 | g.32355061C>A | CA387739947 | BRCA2 | c.7208C>A (p.Thr2403Asn) c.6839C>A (p.Thr2280Asn) n.7208C>A c.7112C>A (p.Thr2371Asn) | ClinVar dbSNP |
| 13 | g.32355061C= | CA2082809715 | BRCA2 | c.7208C= (p.Thr2403=) c.6839C= (p.Thr2280=) n.7208C= c.7112C= (p.Thr2371=) | |
| 13 | g.32355061C>G | CA387739954 | BRCA2 | c.7208C>G (p.Thr2403Ser) c.6839C>G (p.Thr2280Ser) n.7208C>G c.7112C>G (p.Thr2371Ser) | dbSNP |
| 13 | g.32355061C>T | CA10583125 | BRCA2 | c.7208C>T (p.Thr2403Ile) c.6839C>T (p.Thr2280Ile) n.7208C>T c.7112C>T (p.Thr2371Ile) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32355061_32355065delinsCCAAA | CA2082809714 | BRCA2 | c.7208_7212delinsCCAAA (p.Thr2403=) c.6839_6843delinsCCAAA (p.Thr2280=) n.7208_7212delinsCCAAA c.7112_7116delinsCCAAA (p.Thr2371=) | |
| 13 | g.32355062C>A | CA483439729 | BRCA2 | c.7209C>A (p.Thr2403=) c.6840C>A (p.Thr2280=) n.7209C>A c.7113C>A (p.Thr2371=) | ClinVar dbSNP |
| 13 | g.32355062C= | CA2082809732 | BRCA2 | c.7209C= (p.Thr2403=) c.6840C= (p.Thr2280=) n.7209C= c.7113C= (p.Thr2371=) | |
| 13 | g.32355062C>G | CA483439728 | BRCA2 | c.7209C>G (p.Thr2403=) c.6840C>G (p.Thr2280=) n.7209C>G c.7113C>G (p.Thr2371=) | dbSNP |
| 13 | g.32355062C>T | CA483439730 | BRCA2 | c.7209C>T (p.Thr2403=) c.6840C>T (p.Thr2280=) n.7209C>T c.7113C>T (p.Thr2371=) | dbSNP |
| 13 | g.32355062_32355064delinsCAA | CA2082809725 | BRCA2 | c.7209_7211delinsCAA (p.Thr2403=) c.6840_6842delinsCAA (p.Thr2280=) n.7209_7211delinsCAA c.7113_7115delinsCAA (p.Thr2371=) | |
| 13 | g.32355062_32355065delinsGG | CA10579727 | BRCA2 | c.7209_7212delinsGG (p.Lys2404GlyfsTer7) c.6840_6843delinsGG (p.Lys2281GlyfsTer7) n.7209_7212delinsGG c.7113_7116delinsGG (p.Lys2372GlyfsTer7) | ClinVar dbSNP |
| 13 | g.32355062_32355069delinsCAAAGTCT | CA2082809727 | BRCA2 | c.7209_7216delinsCAAAGTCT (p.Thr2403=) c.6840_6847delinsCAAAGTCT (p.Thr2280=) n.7209_7216delinsCAAAGTCT c.7113_7120delinsCAAAGTCT (p.Thr2371=) | |
| 13 | g.32355063A= | CA2082809752 | BRCA2 | c.7210A= (p.Lys2404=) c.6841A= (p.Lys2281=) n.7210A= c.7114A= (p.Lys2372=) | |
| 13 | g.32355063A>C | CA387739981 | BRCA2 | c.7210A>C (p.Lys2404Gln) c.6841A>C (p.Lys2281Gln) n.7210A>C c.7114A>C (p.Lys2372Gln) | |
| 13 | g.32355063A>G | CA387739983 | BRCA2 | c.7210A>G (p.Lys2404Glu) c.6841A>G (p.Lys2281Glu) n.7210A>G c.7114A>G (p.Lys2372Glu) | |
| 13 | g.32355063A>T | CA10589417 | BRCA2 | c.7210A>T (p.Lys2404Ter) c.6841A>T (p.Lys2281Ter) n.7210A>T c.7114A>T (p.Lys2372Ter) | ClinVar dbSNP |
| 13 | g.32355065del | CA10589418 | BRCA2 | c.7212del (p.Val2405SerfsTer?) c.6843del (p.Val2282SerfsTer?) n.7212del c.7116del (p.Val2373SerfsTer?) | ClinVar dbSNP |
| 13 | g.32355064_32355065del | CA024966 | BRCA2 | c.7211_7212del (p.Lys2404SerfsTer7) c.6842_6843del (p.Lys2281SerfsTer7) n.7211_7212del c.7115_7116del (p.Lys2372SerfsTer7) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32355063_32355069delinsTG | CA024964 | BRCA2 | c.7210_7216delinsTG (p.Lys2404CysfsTer6) c.6841_6847delinsTG (p.Lys2281CysfsTer6) n.7210_7216delinsTG c.7114_7120delinsTG (p.Lys2372CysfsTer6) | ClinVar dbSNP |
| 13 | g.32355063_32355069delinsTGTAG | CA10588568 | BRCA2 | c.7210_7216delinsTGTAG (p.Lys2404CysfsTer7) c.6841_6847delinsTGTAG (p.Lys2281CysfsTer7) n.7210_7216delinsTGTAG c.7114_7120delinsTGTAG (p.Lys2372CysfsTer7) | ClinVar dbSNP |
| 13 | g.32355064A= | CA2082809765 | BRCA2 | c.7211A= (p.Lys2404=) c.6842A= (p.Lys2281=) n.7211A= c.7115A= (p.Lys2372=) | |
| 13 | g.32355064A>C | CA387739992 | BRCA2 | c.7211A>C (p.Lys2404Thr) c.6842A>C (p.Lys2281Thr) n.7211A>C c.7115A>C (p.Lys2372Thr) | ClinVar dbSNP |
| 13 | g.32355064A>G | CA387739986 | BRCA2 | c.7211A>G (p.Lys2404Arg) c.6842A>G (p.Lys2281Arg) n.7211A>G c.7115A>G (p.Lys2372Arg) | ClinVar |
| 13 | g.32355064A>T | CA387739991 | BRCA2 | c.7211A>T (p.Lys2404Ile) c.6842A>T (p.Lys2281Ile) n.7211A>T c.7115A>T (p.Lys2372Ile) | |
| 13 | g.32355064_32355065delinsGGTT | CA2580614672 | BRCA2 | c.7211_7212delinsGGTT (p.Lys2404ArgfsTer?) c.6842_6843delinsGGTT (p.Lys2281ArgfsTer?) n.7211_7212delinsGGTT c.7115_7116delinsGGTT (p.Lys2372ArgfsTer?) | ClinVar |
| 13 | g.32355065_32355077del | CA891842186 | BRCA2 | c.7212_7224del (p.Lys2404AsnfsTer?) c.6843_6855del (p.Lys2281AsnfsTer?) n.7212_7224del c.7116_7128del (p.Lys2372AsnfsTer?) | |
| 13 | g.32355065A>C | CA387739995 | BRCA2 | c.7212A>C (p.Lys2404Asn) c.6843A>C (p.Lys2281Asn) n.7212A>C c.7116A>C (p.Lys2372Asn) | |
| 13 | g.32355065A>G | CA483439738 | BRCA2 | c.7212A>G (p.Lys2404=) c.6843A>G (p.Lys2281=) n.7212A>G c.7116A>G (p.Lys2372=) | |
| 13 | g.32355065A>T | CA387739998 | BRCA2 | c.7212A>T (p.Lys2404Asn) c.6843A>T (p.Lys2281Asn) n.7212A>T c.7116A>T (p.Lys2372Asn) | dbSNP |
| 13 | g.32355066G>A | CA387740003 | BRCA2 | c.7213G>A (p.Val2405Ile) c.6844G>A (p.Val2282Ile) n.7213G>A c.7117G>A (p.Val2373Ile) | ClinVar dbSNP |
| 13 | g.32355066G>C | CA387740008 | BRCA2 | c.7213G>C (p.Val2405Leu) c.6844G>C (p.Val2282Leu) n.7213G>C c.7117G>C (p.Val2373Leu) | ClinVar dbSNP |
| 13 | g.32355066G= | CA2082809771 | BRCA2 | c.7213G= (p.Val2405=) c.6844G= (p.Val2282=) n.7213G= c.7117G= (p.Val2373=) | |
| 13 | g.32355066G>T | CA387740012 | BRCA2 | c.7213G>T (p.Val2405Phe) c.6844G>T (p.Val2282Phe) n.7213G>T c.7117G>T (p.Val2373Phe) | |
| 13 | g.32355066_32355070delinsGTCTT | CA2082809772 | BRCA2 | c.7213_7217delinsGTCTT (p.Val2405=) c.6844_6848delinsGTCTT (p.Val2282=) n.7213_7217delinsGTCTT c.7117_7121delinsGTCTT (p.Val2373=) | |
| 13 | g.32355067T>A | CA387740018 | BRCA2 | c.7214T>A (p.Val2405Asp) c.6845T>A (p.Val2282Asp) n.7214T>A c.7118T>A (p.Val2373Asp) | dbSNP gnomAD v2 |
| 13 | g.32355067T>C | CA387740021 | BRCA2 | c.7214T>C (p.Val2405Ala) c.6845T>C (p.Val2282Ala) n.7214T>C c.7118T>C (p.Val2373Ala) | |
| 13 | g.32355067T>G | CA387740031 | BRCA2 | c.7214T>G (p.Val2405Gly) c.6845T>G (p.Val2282Gly) n.7214T>G c.7118T>G (p.Val2373Gly) | ClinVar dbSNP |
| 13 | g.32355067T= | CA2082809779 | BRCA2 | c.7214T= (p.Val2405=) c.6845T= (p.Val2282=) n.7214T= c.7118T= (p.Val2373=) | |
| 13 | g.32355068_32355071del | CA658656407 | BRCA2 | c.7215_7218del (p.Val2407HisfsTer?) c.6846_6849del (p.Val2284HisfsTer?) n.7215_7218del c.7119_7122del (p.Val2375HisfsTer?) | ClinVar dbSNP |
| 13 | g.32355068C>A | CA16606699 | BRCA2 | c.7215C>A (p.Val2405=) c.6846C>A (p.Val2282=) n.7215C>A c.7119C>A (p.Val2373=) | ClinVar dbSNP |
| 13 | g.32355068C= | CA2082809787 | BRCA2 | c.7215C= (p.Val2405=) c.6846C= (p.Val2282=) n.7215C= c.7119C= (p.Val2373=) | |
| 13 | g.32355068C>G | CA483439742 | BRCA2 | c.7215C>G (p.Val2405=) c.6846C>G (p.Val2282=) n.7215C>G c.7119C>G (p.Val2373=) | dbSNP |
| 13 | g.32355068C>T | CA483439743 | BRCA2 | c.7215C>T (p.Val2405=) c.6846C>T (p.Val2282=) n.7215C>T c.7119C>T (p.Val2373=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355068_32355070delinsCTT | CA2082809785 | BRCA2 | c.7215_7217delinsCTT (p.Val2405=) c.6846_6848delinsCTT (p.Val2282=) n.7215_7217delinsCTT c.7119_7121delinsCTT (p.Val2373=) | |
| 13 | g.32355068_32355069insAGATG | CA2509409308 | BRCA2 | c.7215_7216insAGATG (p.Phe2406ArgfsTer?) c.6846_6847insAGATG (p.Phe2283ArgfsTer?) n.7215_7216insAGATG c.7119_7120insAGATG (p.Phe2374ArgfsTer?) | |
| 13 | g.32355069T>A | CA387740035 | BRCA2 | c.7216T>A (p.Phe2406Ile) c.6847T>A (p.Phe2283Ile) n.7216T>A c.7120T>A (p.Phe2374Ile) | dbSNP |
| 13 | g.32355069T>C | CA387740037 | BRCA2 | c.7216T>C (p.Phe2406Leu) c.6847T>C (p.Phe2283Leu) n.7216T>C c.7120T>C (p.Phe2374Leu) | ClinVar dbSNP |
| 13 | g.32355069T>G | CA387740038 | BRCA2 | c.7216T>G (p.Phe2406Val) c.6847T>G (p.Phe2283Val) n.7216T>G c.7120T>G (p.Phe2374Val) | dbSNP |
| 13 | g.32355071dup | CA10579728 | BRCA2 | c.7218dup (p.Val2407CysfsTer5) c.6849dup (p.Val2284CysfsTer5) n.7218dup c.7122dup (p.Val2375CysfsTer5) | ClinVar dbSNP |
| 13 | g.32355070_32355071del | CA891844182 | BRCA2 | c.7217_7218del (p.Phe2406CysfsTer5) c.6848_6849del (p.Phe2283CysfsTer5) n.7217_7218del c.7121_7122del (p.Phe2374CysfsTer5) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355070T>A | CA387740046 | BRCA2 | c.7217T>A (p.Phe2406Tyr) c.6848T>A (p.Phe2283Tyr) n.7217T>A c.7121T>A (p.Phe2374Tyr) | dbSNP |
| 13 | g.32355070T>C | CA6941070 | BRCA2 | c.7217T>C (p.Phe2406Ser) c.6848T>C (p.Phe2283Ser) n.7217T>C c.7121T>C (p.Phe2374Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.32355070T>G | CA387740040 | BRCA2 | c.7217T>G (p.Phe2406Cys) c.6848T>G (p.Phe2283Cys) n.7217T>G c.7121T>G (p.Phe2374Cys) | |
| 13 | g.32355070T= | CA2082809803 | BRCA2 | c.7217T= (p.Phe2406=) c.6848T= (p.Phe2283=) n.7217T= c.7121T= (p.Phe2374=) | |
| 13 | g.32355071T>A | CA387740057 | BRCA2 | c.7218T>A (p.Phe2406Leu) c.6849T>A (p.Phe2283Leu) n.7218T>A c.7122T>A (p.Phe2374Leu) | dbSNP |
| 13 | g.32355071T>C | CA483439746 | BRCA2 | c.7218T>C (p.Phe2406=) c.6849T>C (p.Phe2283=) n.7218T>C c.7122T>C (p.Phe2374=) | ClinVar dbSNP |
| 13 | g.32355071T>G | CA024968 | BRCA2 | c.7218T>G (p.Phe2406Leu) c.6849T>G (p.Phe2283Leu) n.7218T>G c.7122T>G (p.Phe2374Leu) | ClinVar dbSNP |
| 13 | g.32355071T= | CA2082809808 | BRCA2 | c.7218T= (p.Phe2406=) c.6849T= (p.Phe2283=) n.7218T= c.7122T= (p.Phe2374=) | |
| 13 | g.32355072_32355073del | CA2573149370 | BRCA2 | c.7219_7220del (p.Val2407SerfsTer4) c.6850_6851del (p.Val2284SerfsTer4) n.7219_7220del c.7123_7124del (p.Val2375SerfsTer4) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355071_32355074delinsTGTT | CA2082809813 | BRCA2 | c.7218_7221delinsTGTT (p.Phe2406=) c.6849_6852delinsTGTT (p.Phe2283=) n.7218_7221delinsTGTT c.7122_7125delinsTGTT (p.Phe2374=) | |
| 13 | g.32355072G>A | CA387740069 | BRCA2 | c.7219G>A (p.Val2407Ile) c.6850G>A (p.Val2284Ile) n.7219G>A c.7123G>A (p.Val2375Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355072G>C | CA387740073 | BRCA2 | c.7219G>C (p.Val2407Leu) c.6850G>C (p.Val2284Leu) n.7219G>C c.7123G>C (p.Val2375Leu) | ClinVar dbSNP |
| 13 | g.32355072G= | CA2082809831 | BRCA2 | c.7219G= (p.Val2407=) c.6850G= (p.Val2284=) n.7219G= c.7123G= (p.Val2375=) | |
| 13 | g.32355072G>T | CA387740080 | BRCA2 | c.7219G>T (p.Val2407Phe) c.6850G>T (p.Val2284Phe) n.7219G>T c.7123G>T (p.Val2375Phe) | |
| 13 | g.32355072_32355074delinsA | CA913188629 | BRCA2 | c.7219_7221delinsA (p.Val2407ThrfsTer4) c.6850_6852delinsA (p.Val2284ThrfsTer4) n.7219_7221delinsA c.7123_7125delinsA (p.Val2375ThrfsTer4) | ClinVar dbSNP |
| 13 | g.32355073T>A | CA387740084 | BRCA2 | c.7220T>A (p.Val2407Asp) c.6851T>A (p.Val2284Asp) n.7220T>A c.7124T>A (p.Val2375Asp) | dbSNP |
| 13 | g.32355073T>C | CA387740089 | BRCA2 | c.7220T>C (p.Val2407Ala) c.6851T>C (p.Val2284Ala) n.7220T>C c.7124T>C (p.Val2375Ala) | dbSNP |
| 13 | g.32355073T>G | CA387740094 | BRCA2 | c.7220T>G (p.Val2407Gly) c.6851T>G (p.Val2284Gly) n.7220T>G c.7124T>G (p.Val2375Gly) | dbSNP |
| 13 | g.32355073_32355074delinsAA | CA1139663169 | BRCA2 | c.7220_7221delinsAA (p.Val2407Glu) c.6851_6852delinsAA (p.Val2284Glu) n.7220_7221delinsAA c.7124_7125delinsAA (p.Val2375Glu) | ClinVar |
| 13 | g.32355074del | CA2499222275 | BRCA2 | c.7221del (p.Pro2408HisfsTer?) c.6852del (p.Pro2285HisfsTer?) n.7221del c.7125del (p.Pro2376HisfsTer?) | |
| 13 | g.32355073_32355075delinsAA | CA2499222274 | BRCA2 | c.7220_7222delinsAA (p.Val2407GlufsTer?) c.6851_6853delinsAA (p.Val2284GlufsTer?) n.7220_7222delinsAA c.7124_7126delinsAA (p.Val2375GlufsTer?) | |
| 13 | g.32355073_32355076dup | CA10589419 | BRCA2 | c.7220_7223dup (p.Pro2409SerfsTer4) c.6851_6854dup (p.Pro2286SerfsTer4) n.7220_7223dup c.7124_7127dup (p.Pro2377SerfsTer4) | ClinVar dbSNP |
| 13 | g.32355074T>A | CA483439750 | BRCA2 | c.7221T>A (p.Val2407=) c.6852T>A (p.Val2284=) n.7221T>A c.7125T>A (p.Val2375=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355074T>C | CA483439752 | BRCA2 | c.7221T>C (p.Val2407=) c.6852T>C (p.Val2284=) n.7221T>C c.7125T>C (p.Val2375=) | |
| 13 | g.32355074T>G | CA483439751 | BRCA2 | c.7221T>G (p.Val2407=) c.6852T>G (p.Val2284=) n.7221T>G c.7125T>G (p.Val2375=) | |
| 13 | g.32355075C>A | CA387740116 | BRCA2 | c.7222C>A (p.Pro2408Thr) c.6853C>A (p.Pro2285Thr) n.7222C>A c.7126C>A (p.Pro2376Thr) | ClinVar dbSNP |
| 13 | g.32355075C= | CA2082809854 | BRCA2 | c.7222C= (p.Pro2408=) c.6853C= (p.Pro2285=) n.7222C= c.7126C= (p.Pro2376=) | |
| 13 | g.32355075C>G | CA387740133 | BRCA2 | c.7222C>G (p.Pro2408Ala) c.6853C>G (p.Pro2285Ala) n.7222C>G c.7126C>G (p.Pro2376Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355075C>T | CA024971 | BRCA2 | c.7222C>T (p.Pro2408Ser) c.6853C>T (p.Pro2285Ser) n.7222C>T c.7126C>T (p.Pro2376Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355076del | CA2499222276 | BRCA2 | c.7223del (p.Pro2408HisfsTer?) c.6854del (p.Pro2285HisfsTer?) n.7223del c.7127del (p.Pro2376HisfsTer?) | |
| 13 | g.32355076C>A | CA387740165 | BRCA2 | c.7223C>A (p.Pro2408Gln) c.6854C>A (p.Pro2285Gln) n.7223C>A c.7127C>A (p.Pro2376Gln) | dbSNP |
| 13 | g.32355076C= | CA2082809871 | BRCA2 | c.7223C= (p.Pro2408=) c.6854C= (p.Pro2285=) n.7223C= c.7127C= (p.Pro2376=) | |
| 13 | g.32355076C>G | CA387740172 | BRCA2 | c.7223C>G (p.Pro2408Arg) c.6854C>G (p.Pro2285Arg) n.7223C>G c.7127C>G (p.Pro2376Arg) | |
| 13 | g.32355076C>T | CA387740151 | BRCA2 | c.7223C>T (p.Pro2408Leu) c.6854C>T (p.Pro2285Leu) n.7223C>T c.7127C>T (p.Pro2376Leu) | dbSNP gnomAD v2 |
| 13 | g.32355076_32355077delinsCA | CA2082809874 | BRCA2 | c.7223_7224delinsCA (p.Pro2408=) c.6854_6855delinsCA (p.Pro2285=) n.7223_7224delinsCA c.7127_7128delinsCA (p.Pro2376=) | |
| 13 | g.32355076_32355080delinsCACCT | CA2082809869 | BRCA2 | c.7223_7227delinsCACCT (p.Pro2408=) c.6854_6858delinsCACCT (p.Pro2285=) n.7223_7227delinsCACCT c.7127_7131delinsCACCT (p.Pro2376=) | |
| 13 | g.32355077del | CA915946864 | BRCA2 | c.7224del (p.Pro2409LeufsTer?) c.6855del (p.Pro2286LeufsTer?) n.7224del c.7128del (p.Pro2377LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355077A= | CA2082809894 | BRCA2 | c.7224A= (p.Pro2408=) c.6855A= (p.Pro2285=) n.7224A= c.7128A= (p.Pro2376=) | |
| 13 | g.32355077A>C | CA483439754 | BRCA2 | c.7224A>C (p.Pro2408=) c.6855A>C (p.Pro2285=) n.7224A>C c.7128A>C (p.Pro2376=) | dbSNP |
| 13 | g.32355077A>G | CA024974 | BRCA2 | c.7224A>G (p.Pro2408=) c.6855A>G (p.Pro2285=) n.7224A>G c.7128A>G (p.Pro2376=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355077A>T | CA483439755 | BRCA2 | c.7224A>T (p.Pro2408=) c.6855A>T (p.Pro2285=) n.7224A>T c.7128A>T (p.Pro2376=) | dbSNP |
| 13 | g.32355077_32355078delinsAC | CA2082809896 | BRCA2 | c.7224_7225delinsAC (p.Pro2408=) c.6855_6856delinsAC (p.Pro2285=) n.7224_7225delinsAC c.7128_7129delinsAC (p.Pro2376=) | |
| 13 | g.32355077_32355080del | CA024972 | BRCA2 | c.7224_7227del (p.Pro2409LeufsTer?) c.6855_6858del (p.Pro2286LeufsTer?) n.7224_7227del c.7128_7131del (p.Pro2377LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355078C>A | CA387740198 | BRCA2 | c.7225C>A (p.Pro2409Thr) c.6856C>A (p.Pro2286Thr) n.7225C>A c.7129C>A (p.Pro2377Thr) | dbSNP gnomAD v4 |
| 13 | g.32355078C>G | CA387740205 | BRCA2 | c.7225C>G (p.Pro2409Ala) c.6856C>G (p.Pro2286Ala) n.7225C>G c.7129C>G (p.Pro2377Ala) | dbSNP |
| 13 | g.32355078C>T | CA387740206 | BRCA2 | c.7225C>T (p.Pro2409Ser) c.6856C>T (p.Pro2286Ser) n.7225C>T c.7129C>T (p.Pro2377Ser) | ClinVar dbSNP |
| 13 | g.32355079del | CA024977 | BRCA2 | c.7226del (p.Pro2409LeufsTer?) c.6857del (p.Pro2286LeufsTer?) n.7226del c.7130del (p.Pro2377LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355079C>A | CA387740213 | BRCA2 | c.7226C>A (p.Pro2409His) c.6857C>A (p.Pro2286His) n.7226C>A c.7130C>A (p.Pro2377His) | |
| 13 | g.32355079C= | CA2082809913 | BRCA2 | c.7226C= (p.Pro2409=) c.6857C= (p.Pro2286=) n.7226C= c.7130C= (p.Pro2377=) | |
| 13 | g.32355079C>G | CA387740217 | BRCA2 | c.7226C>G (p.Pro2409Arg) c.6857C>G (p.Pro2286Arg) n.7226C>G c.7130C>G (p.Pro2377Arg) | ClinVar dbSNP |
| 13 | g.32355079C>T | CA6941071 | BRCA2 | c.7226C>T (p.Pro2409Leu) c.6857C>T (p.Pro2286Leu) n.7226C>T c.7130C>T (p.Pro2377Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355079_32355080delinsCT | CA2082809916 | BRCA2 | c.7226_7227delinsCT (p.Pro2409=) c.6857_6858delinsCT (p.Pro2286=) n.7226_7227delinsCT c.7130_7131delinsCT (p.Pro2377=) | |
| 13 | g.32355080T>A | CA483439760 | BRCA2 | c.7227T>A (p.Pro2409=) c.6858T>A (p.Pro2286=) n.7227T>A c.7131T>A (p.Pro2377=) | ClinVar dbSNP |
| 13 | g.32355080T>C | CA483439762 | BRCA2 | c.7227T>C (p.Pro2409=) c.6858T>C (p.Pro2286=) n.7227T>C c.7131T>C (p.Pro2377=) | ClinVar dbSNP |
| 13 | g.32355080T>G | CA483439763 | BRCA2 | c.7227T>G (p.Pro2409=) c.6858T>G (p.Pro2286=) n.7227T>G c.7131T>G (p.Pro2377=) | |
| 13 | g.32355080T= | CA2082809923 | BRCA2 | c.7227T= (p.Pro2409=) c.6858T= (p.Pro2286=) n.7227T= c.7131T= (p.Pro2377=) | |
| 13 | g.32355083del | CA658656409 | BRCA2 | c.7230del (p.Phe2410LeufsTer?) c.6861del (p.Phe2287LeufsTer?) n.7230del c.7134del (p.Phe2378LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355081T>A | CA387740225 | BRCA2 | c.7228T>A (p.Phe2410Ile) c.6859T>A (p.Phe2287Ile) n.7228T>A c.7132T>A (p.Phe2378Ile) | dbSNP |
| 13 | g.32355081T>C | CA387740229 | BRCA2 | c.7228T>C (p.Phe2410Leu) c.6859T>C (p.Phe2287Leu) n.7228T>C c.7132T>C (p.Phe2378Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355081T>G | CA387740234 | BRCA2 | c.7228T>G (p.Phe2410Val) c.6859T>G (p.Phe2287Val) n.7228T>G c.7132T>G (p.Phe2378Val) | |
| 13 | g.32355081T= | CA2082809927 | BRCA2 | c.7228T= (p.Phe2410=) c.6859T= (p.Phe2287=) n.7228T= c.7132T= (p.Phe2378=) | |
| 13 | g.32355082T>A | CA387740241 | BRCA2 | c.7229T>A (p.Phe2410Tyr) c.6860T>A (p.Phe2287Tyr) n.7229T>A c.7133T>A (p.Phe2378Tyr) | dbSNP |
| 13 | g.32355082T>C | CA387740242 | BRCA2 | c.7229T>C (p.Phe2410Ser) c.6860T>C (p.Phe2287Ser) n.7229T>C c.7133T>C (p.Phe2378Ser) | dbSNP |
| 13 | g.32355082T>G | CA387740238 | BRCA2 | c.7229T>G (p.Phe2410Cys) c.6860T>G (p.Phe2287Cys) n.7229T>G c.7133T>G (p.Phe2378Cys) | |
| 13 | g.32355083T>A | CA387740246 | BRCA2 | c.7230T>A (p.Phe2410Leu) c.6861T>A (p.Phe2287Leu) n.7230T>A c.7134T>A (p.Phe2378Leu) | |
| 13 | g.32355083T>C | CA483439767 | BRCA2 | c.7230T>C (p.Phe2410=) c.6861T>C (p.Phe2287=) n.7230T>C c.7134T>C (p.Phe2378=) | |
| 13 | g.32355083T>G | CA387740253 | BRCA2 | c.7230T>G (p.Phe2410Leu) c.6861T>G (p.Phe2287Leu) n.7230T>G c.7134T>G (p.Phe2378Leu) | |
| 13 | g.32355083_32355084delinsTA | CA2082809928 | BRCA2 | c.7230_7231delinsTA (p.Phe2410=) c.6861_6862delinsTA (p.Phe2287=) n.7230_7231delinsTA c.7134_7135delinsTA (p.Phe2378=) | |
| 13 | g.32355084A= | CA2082809940 | BRCA2 | c.7231A= (p.Lys2411=) c.6862A= (p.Lys2288=) n.7231A= c.7135A= (p.Lys2379=) | |
| 13 | g.32355084A>C | CA387740255 | BRCA2 | c.7231A>C (p.Lys2411Gln) c.6862A>C (p.Lys2288Gln) n.7231A>C c.7135A>C (p.Lys2379Gln) | |
| 13 | g.32355084A>G | CA6941072 | BRCA2 | c.7231A>G (p.Lys2411Glu) c.6862A>G (p.Lys2288Glu) n.7231A>G c.7135A>G (p.Lys2379Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355084A>T | CA387740272 | BRCA2 | c.7231A>T (p.Lys2411Ter) c.6862A>T (p.Lys2288Ter) n.7231A>T c.7135A>T (p.Lys2379Ter) | dbSNP |
| 13 | g.32355087del | CA645372931 | BRCA2 | c.7234del (p.Thr2412LeufsTer?) c.6865del (p.Thr2289LeufsTer?) n.7234del c.7138del (p.Thr2380LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355085A= | CA2082809950 | BRCA2 | c.7232A= (p.Lys2411=) c.6863A= (p.Lys2288=) n.7232A= c.7136A= (p.Lys2379=) | |
| 13 | g.32355085A>C | CA024979 | BRCA2 | c.7232A>C (p.Lys2411Thr) c.6863A>C (p.Lys2288Thr) n.7232A>C c.7136A>C (p.Lys2379Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355085A>G | CA387740275 | BRCA2 | c.7232A>G (p.Lys2411Arg) c.6863A>G (p.Lys2288Arg) n.7232A>G c.7136A>G (p.Lys2379Arg) | dbSNP |
| 13 | g.32355085A>T | CA387740276 | BRCA2 | c.7232A>T (p.Lys2411Ile) c.6863A>T (p.Lys2288Ile) n.7232A>T c.7136A>T (p.Lys2379Ile) | dbSNP |
| 13 | g.32355086A= | CA2082809954 | BRCA2 | c.7233A= (p.Lys2411=) c.6864A= (p.Lys2288=) n.7233A= c.7137A= (p.Lys2379=) | |
| 13 | g.32355086A>C | CA387740279 | BRCA2 | c.7233A>C (p.Lys2411Asn) c.6864A>C (p.Lys2288Asn) n.7233A>C c.7137A>C (p.Lys2379Asn) | gnomAD v4 |
| 13 | g.32355086A>G | CA483439769 | BRCA2 | c.7233A>G (p.Lys2411=) c.6864A>G (p.Lys2288=) n.7233A>G c.7137A>G (p.Lys2379=) | |
| 13 | g.32355086A>T | CA387740295 | BRCA2 | c.7233A>T (p.Lys2411Asn) c.6864A>T (p.Lys2288Asn) n.7233A>T c.7137A>T (p.Lys2379Asn) | dbSNP |
| 13 | g.32355086_32355087insG | CA658823700 | BRCA2 | c.7233_7234insG (p.Thr2412AspfsTer2) c.6864_6865insG (p.Thr2289AspfsTer2) n.7233_7234insG c.7137_7138insG (p.Thr2380AspfsTer2) | ClinVar dbSNP |
| 13 | g.32355087A= | CA2082809966 | BRCA2 | c.7234A= (p.Thr2412=) c.6865A= (p.Thr2289=) n.7234A= c.7138A= (p.Thr2380=) | |
| 13 | g.32355087A>C | CA387740299 | BRCA2 | c.7234A>C (p.Thr2412Pro) c.6865A>C (p.Thr2289Pro) n.7234A>C c.7138A>C (p.Thr2380Pro) | ClinVar dbSNP |
| 13 | g.32355087A>G | CA10579729 | BRCA2 | c.7234A>G (p.Thr2412Ala) c.6865A>G (p.Thr2289Ala) n.7234A>G c.7138A>G (p.Thr2380Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355087A>T | CA387740309 | BRCA2 | c.7234A>T (p.Thr2412Ser) c.6865A>T (p.Thr2289Ser) n.7234A>T c.7138A>T (p.Thr2380Ser) | dbSNP |
| 13 | g.32355087_32355088insG | CA024981 | BRCA2 | c.7234_7235insG (p.Thr2412SerfsTer2) c.6865_6866insG (p.Thr2289SerfsTer2) n.7234_7235insG c.7138_7139insG (p.Thr2380SerfsTer2) | ClinVar dbSNP |
| 13 | g.32355088C>A | CA387740313 | BRCA2 | c.7235C>A (p.Thr2412Asn) c.6866C>A (p.Thr2289Asn) n.7235C>A c.7139C>A (p.Thr2380Asn) | dbSNP gnomAD v4 |
| 13 | g.32355088C= | CA2082809992 | BRCA2 | c.7235C= (p.Thr2412=) c.6866C= (p.Thr2289=) n.7235C= c.7139C= (p.Thr2380=) | |
| 13 | g.32355088C>G | CA387740310 | BRCA2 | c.7235C>G (p.Thr2412Ser) c.6866C>G (p.Thr2289Ser) n.7235C>G c.7139C>G (p.Thr2380Ser) | ClinVar gnomAD v4 |
| 13 | g.32355088C>T | CA024985 | BRCA2 | c.7235C>T (p.Thr2412Ile) c.6866C>T (p.Thr2289Ile) n.7235C>T c.7139C>T (p.Thr2380Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355088_32355092delinsCTAAA | CA2082810003 | BRCA2 | c.7235_7239delinsCTAAA (p.Thr2412=) c.6866_6870delinsCTAAA (p.Thr2289=) n.7235_7239delinsCTAAA c.7139_7143delinsCTAAA (p.Thr2380=) | |
| 13 | g.32355088_32355089insG | CA024983 | BRCA2 | c.7235_7236insG (p.Lys2413Ter) c.6866_6867insG (p.Lys2290Ter) n.7235_7236insG c.7139_7140insG (p.Lys2381Ter) | ClinVar dbSNP |
| 13 | g.32355089T>A | CA483439777 | BRCA2 | c.7236T>A (p.Thr2412=) c.6867T>A (p.Thr2289=) n.7236T>A c.7140T>A (p.Thr2380=) | |
| 13 | g.32355089T>C | CA483439778 | BRCA2 | c.7236T>C (p.Thr2412=) c.6867T>C (p.Thr2289=) n.7236T>C c.7140T>C (p.Thr2380=) | |
| 13 | g.32355089T>G | CA483439776 | BRCA2 | c.7236T>G (p.Thr2412=) c.6867T>G (p.Thr2289=) n.7236T>G c.7140T>G (p.Thr2380=) | ClinVar dbSNP |
| 13 | g.32355089T= | CA2082810023 | BRCA2 | c.7236T= (p.Thr2412=) c.6867T= (p.Thr2289=) n.7236T= c.7140T= (p.Thr2380=) | |
| 13 | g.32355090_32355093del | CA891844183 | BRCA2 | c.7237_7240del (p.Lys2413HisfsTer?) c.6868_6871del (p.Lys2290HisfsTer?) n.7237_7240del c.7141_7144del (p.Lys2381HisfsTer?) | ClinVar dbSNP |
| 13 | g.32355090A= | CA2082810036 | BRCA2 | c.7237A= (p.Lys2413=) c.6868A= (p.Lys2290=) n.7237A= c.7141A= (p.Lys2381=) | |
| 13 | g.32355090A>C | CA387740316 | BRCA2 | c.7237A>C (p.Lys2413Gln) c.6868A>C (p.Lys2290Gln) n.7237A>C c.7141A>C (p.Lys2381Gln) | ClinVar dbSNP |
| 13 | g.32355090A>G | CA387740317 | BRCA2 | c.7237A>G (p.Lys2413Glu) c.6868A>G (p.Lys2290Glu) n.7237A>G c.7141A>G (p.Lys2381Glu) | ClinVar dbSNP |
| 13 | g.32355090A>T | CA387740318 | BRCA2 | c.7237A>T (p.Lys2413Ter) c.6868A>T (p.Lys2290Ter) n.7237A>T c.7141A>T (p.Lys2381Ter) | |
| 13 | g.32355091A>C | CA387740319 | BRCA2 | c.7238A>C (p.Lys2413Thr) c.6869A>C (p.Lys2290Thr) n.7238A>C c.7142A>C (p.Lys2381Thr) | |
| 13 | g.32355091A>G | CA387740321 | BRCA2 | c.7238A>G (p.Lys2413Arg) c.6869A>G (p.Lys2290Arg) n.7238A>G c.7142A>G (p.Lys2381Arg) | |
| 13 | g.32355091A>T | CA387740323 | BRCA2 | c.7238A>T (p.Lys2413Ile) c.6869A>T (p.Lys2290Ile) n.7238A>T c.7142A>T (p.Lys2381Ile) | dbSNP |
| 13 | g.32355092A= | CA2082810065 | BRCA2 | c.7239A= (p.Lys2413=) c.6870A= (p.Lys2290=) n.7239A= c.7143A= (p.Lys2381=) | |
| 13 | g.32355092A>C | CA387740328 | BRCA2 | c.7239A>C (p.Lys2413Asn) c.6870A>C (p.Lys2290Asn) n.7239A>C c.7143A>C (p.Lys2381Asn) | |
| 13 | g.32355092A>G | CA339246 | BRCA2 | c.7239A>G (p.Lys2413=) c.6870A>G (p.Lys2290=) n.7239A>G c.7143A>G (p.Lys2381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355092A>T | CA387740345 | BRCA2 | c.7239A>T (p.Lys2413Asn) c.6870A>T (p.Lys2290Asn) n.7239A>T c.7143A>T (p.Lys2381Asn) | dbSNP |
| 13 | g.32355093T>A | CA387740354 | BRCA2 | c.7240T>A (p.Ser2414Thr) c.6871T>A (p.Ser2291Thr) n.7240T>A c.7144T>A (p.Ser2382Thr) | dbSNP |
| 13 | g.32355093T>C | CA387740356 | BRCA2 | c.7240T>C (p.Ser2414Pro) c.6871T>C (p.Ser2291Pro) n.7240T>C c.7144T>C (p.Ser2382Pro) | ClinVar dbSNP |
| 13 | g.32355093T>G | CA387740364 | BRCA2 | c.7240T>G (p.Ser2414Ala) c.6871T>G (p.Ser2291Ala) n.7240T>G c.7144T>G (p.Ser2382Ala) | ClinVar dbSNP |
| 13 | g.32355093T= | CA2082810074 | BRCA2 | c.7240T= (p.Ser2414=) c.6871T= (p.Ser2291=) n.7240T= c.7144T= (p.Ser2382=) | |
| 13 | g.32355094C>A | CA387740371 | BRCA2 | c.7241C>A (p.Ser2414Ter) c.6872C>A (p.Ser2291Ter) n.7241C>A c.7145C>A (p.Ser2382Ter) | ClinVar |
| 13 | g.32355094C= | CA2082810093 | BRCA2 | c.7241C= (p.Ser2414=) c.6872C= (p.Ser2291=) n.7241C= c.7145C= (p.Ser2382=) | |
| 13 | g.32355094C>G | CA024987 | BRCA2 | c.7241C>G (p.Ser2414Ter) c.6872C>G (p.Ser2291Ter) n.7241C>G c.7145C>G (p.Ser2382Ter) | ClinVar dbSNP |
| 13 | g.32355094C>T | CA024989 | BRCA2 | c.7241C>T (p.Ser2414Leu) c.6872C>T (p.Ser2291Leu) n.7241C>T c.7145C>T (p.Ser2382Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355094_32355095delinsAC | CA658798113 | BRCA2 | c.7241_7242delinsAC (p.Ser2414Tyr) c.6872_6873delinsAC (p.Ser2291Tyr) n.7241_7242delinsAC c.7145_7146delinsAC (p.Ser2382Tyr) | dbSNP |
| 13 | g.32355094_32355095delinsCA | CA2082810103 | BRCA2 | c.7241_7242delinsCA (p.Ser2414=) c.6872_6873delinsCA (p.Ser2291=) n.7241_7242delinsCA c.7145_7146delinsCA (p.Ser2382=) | |
| 13 | g.32355094_32355095delinsTG | CA10583126 | BRCA2 | c.7241_7242delinsTG (p.Ser2414Leu) c.6872_6873delinsTG (p.Ser2291Leu) n.7241_7242delinsTG c.7145_7146delinsTG (p.Ser2382Leu) | ClinVar COSMIC |
| 13 | g.32355094_32355095insTA | CA2739277509 | BRCA2 | c.7241_7242insTA (p.His2415AsnfsTer?) c.6872_6873insTA (p.His2292AsnfsTer?) n.7241_7242insTA c.7145_7146insTA (p.His2383AsnfsTer?) | ClinVar |
| 13 | g.32355095A= | CA1630855884 | BRCA2 | c.7242A= (p.Ser2414=) c.6873A= (p.Ser2291=) n.7242A= c.7146A= (p.Ser2382=) | |
| 13 | g.32355095A>C | CA483439786 | BRCA2 | c.7242A>C (p.Ser2414=) c.6873A>C (p.Ser2291=) n.7242A>C c.7146A>C (p.Ser2382=) | |
| 13 | g.32355095A>G | CA024992 | BRCA2 | c.7242A>G (p.Ser2414=) c.6873A>G (p.Ser2291=) n.7242A>G c.7146A>G (p.Ser2382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355095A>T | CA6941073 | BRCA2 | c.7242A>T (p.Ser2414=) c.6873A>T (p.Ser2291=) n.7242A>T c.7146A>T (p.Ser2382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355095delinsTAG | CA1139663170 | BRCA2 | c.7242delinsTAG (p.His2415SerfsTer?) c.6873delinsTAG (p.His2292SerfsTer?) n.7242delinsTAG c.7146delinsTAG (p.His2383SerfsTer?) | dbSNP |
| 13 | g.32355096C>A | CA387740384 | BRCA2 | c.7243C>A (p.His2415Asn) c.6874C>A (p.His2292Asn) n.7243C>A c.7147C>A (p.His2383Asn) | COSMIC |
| 13 | g.32355096C>G | CA387740396 | BRCA2 | c.7243C>G (p.His2415Asp) c.6874C>G (p.His2292Asp) n.7243C>G c.7147C>G (p.His2383Asp) | dbSNP |
| 13 | g.32355096C>T | CA387740401 | BRCA2 | c.7243C>T (p.His2415Tyr) c.6874C>T (p.His2292Tyr) n.7243C>T c.7147C>T (p.His2383Tyr) | dbSNP gnomAD v4 |
| 13 | g.32355097A= | CA2082810133 | BRCA2 | c.7244A= (p.His2415=) c.6875A= (p.His2292=) n.7244A= c.7148A= (p.His2383=) | |
| 13 | g.32355097A>C | CA387740409 | BRCA2 | c.7244A>C (p.His2415Pro) c.6875A>C (p.His2292Pro) n.7244A>C c.7148A>C (p.His2383Pro) | ClinVar |
| 13 | g.32355097A>G | CA6941074 | BRCA2 | c.7244A>G (p.His2415Arg) c.6875A>G (p.His2292Arg) n.7244A>G c.7148A>G (p.His2383Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355097A>T | CA387740406 | BRCA2 | c.7244A>T (p.His2415Leu) c.6875A>T (p.His2292Leu) n.7244A>T c.7148A>T (p.His2383Leu) | |
| 13 | g.32355097_32355098delinsAT | CA2082810137 | BRCA2 | c.7244_7245delinsAT (p.His2415=) c.6875_6876delinsAT (p.His2292=) n.7244_7245delinsAT c.7148_7149delinsAT (p.His2383=) | |
| 13 | g.32355098T>A | CA387740417 | BRCA2 | c.7245T>A (p.His2415Gln) c.6876T>A (p.His2292Gln) n.7245T>A c.7149T>A (p.His2383Gln) | |
| 13 | g.32355098T>C | CA483439788 | BRCA2 | c.7245T>C (p.His2415=) c.6876T>C (p.His2292=) n.7245T>C c.7149T>C (p.His2383=) | |
| 13 | g.32355098T>G | CA387740422 | BRCA2 | c.7245T>G (p.His2415Gln) c.6876T>G (p.His2292Gln) n.7245T>G c.7149T>G (p.His2383Gln) | dbSNP |
| 13 | g.32355101dup | CA2727841603 | BRCA2 | c.7248dup (p.His2417SerfsTer4) c.6879dup (p.His2294SerfsTer4) n.7248dup c.7152dup (p.His2385SerfsTer4) | dbSNP |
| 13 | g.32355101del | CA10586570 | BRCA2 | c.7248del (p.His2417ThrfsTer?) c.6879del (p.His2294ThrfsTer?) n.7248del c.7152del (p.His2385ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355099T>A | CA387740426 | BRCA2 | c.7246T>A (p.Phe2416Ile) c.6877T>A (p.Phe2293Ile) n.7246T>A c.7150T>A (p.Phe2384Ile) | dbSNP |
| 13 | g.32355099T>C | CA387740427 | BRCA2 | c.7246T>C (p.Phe2416Leu) c.6877T>C (p.Phe2293Leu) n.7246T>C c.7150T>C (p.Phe2384Leu) | |
| 13 | g.32355099T>G | CA387740430 | BRCA2 | c.7246T>G (p.Phe2416Val) c.6877T>G (p.Phe2293Val) n.7246T>G c.7150T>G (p.Phe2384Val) | ClinVar dbSNP |
| 13 | g.32355099T= | CA2082810145 | BRCA2 | c.7246T= (p.Phe2416=) c.6877T= (p.Phe2293=) n.7246T= c.7150T= (p.Phe2384=) | |
| 13 | g.32355100T>A | CA387740435 | BRCA2 | c.7247T>A (p.Phe2416Tyr) c.6878T>A (p.Phe2293Tyr) n.7247T>A c.7151T>A (p.Phe2384Tyr) | dbSNP |
| 13 | g.32355100T>C | CA387740438 | BRCA2 | c.7247T>C (p.Phe2416Ser) c.6878T>C (p.Phe2293Ser) n.7247T>C c.7151T>C (p.Phe2384Ser) | dbSNP |
| 13 | g.32355100T>G | CA387740434 | BRCA2 | c.7247T>G (p.Phe2416Cys) c.6878T>G (p.Phe2293Cys) n.7247T>G c.7151T>G (p.Phe2384Cys) | |
| 13 | g.32355101T>A | CA387740441 | BRCA2 | c.7248T>A (p.Phe2416Leu) c.6879T>A (p.Phe2293Leu) n.7248T>A c.7152T>A (p.Phe2384Leu) | |
| 13 | g.32355101T>C | CA483439790 | BRCA2 | c.7248T>C (p.Phe2416=) c.6879T>C (p.Phe2293=) n.7248T>C c.7152T>C (p.Phe2384=) | ClinVar dbSNP |
| 13 | g.32355101T>G | CA387740451 | BRCA2 | c.7248T>G (p.Phe2416Leu) c.6879T>G (p.Phe2293Leu) n.7248T>G c.7152T>G (p.Phe2384Leu) | |
| 13 | g.32355101T= | CA2082810151 | BRCA2 | c.7248T= (p.Phe2416=) c.6879T= (p.Phe2293=) n.7248T= c.7152T= (p.Phe2384=) | |
| 13 | g.32355101_32355103delinsTCA | CA2082810150 | BRCA2 | c.7248_7250delinsTCA (p.Phe2416=) c.6879_6881delinsTCA (p.Phe2293=) n.7248_7250delinsTCA c.7152_7154delinsTCA (p.Phe2384=) | |
| 13 | g.32355102C>A | CA387740454 | BRCA2 | c.7249C>A (p.His2417Asn) c.6880C>A (p.His2294Asn) n.7249C>A c.7153C>A (p.His2385Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355102C= | CA2082810174 | BRCA2 | c.7249C= (p.His2417=) c.6880C= (p.His2294=) n.7249C= c.7153C= (p.His2385=) | |
| 13 | g.32355102C>G | CA387740456 | BRCA2 | c.7249C>G (p.His2417Asp) c.6880C>G (p.His2294Asp) n.7249C>G c.7153C>G (p.His2385Asp) | ClinVar dbSNP |
| 13 | g.32355102C>T | CA387740458 | BRCA2 | c.7249C>T (p.His2417Tyr) c.6880C>T (p.His2294Tyr) n.7249C>T c.7153C>T (p.His2385Tyr) | ClinVar dbSNP |
| 13 | g.32355104_32355105del | CA024993 | BRCA2 | c.7251_7252del (p.His2417GlnfsTer3) c.6882_6883del (p.His2294GlnfsTer3) n.7251_7252del c.7155_7156del (p.His2385GlnfsTer3) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355103A= | CA2082810188 | BRCA2 | c.7250A= (p.His2417=) c.6881A= (p.His2294=) n.7250A= c.7154A= (p.His2385=) | |
| 13 | g.32355103A>C | CA387740470 | BRCA2 | c.7250A>C (p.His2417Pro) c.6881A>C (p.His2294Pro) n.7250A>C c.7154A>C (p.His2385Pro) | gnomAD v4 |
| 13 | g.32355103A>G | CA6941075 | BRCA2 | c.7250A>G (p.His2417Arg) c.6881A>G (p.His2294Arg) n.7250A>G c.7154A>G (p.His2385Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355103A>T | CA387740466 | BRCA2 | c.7250A>T (p.His2417Leu) c.6881A>T (p.His2294Leu) n.7250A>T c.7154A>T (p.His2385Leu) | ClinVar dbSNP |
| 13 | g.32355104C>A | CA387740472 | BRCA2 | c.7251C>A (p.His2417Gln) c.6882C>A (p.His2294Gln) n.7251C>A c.7155C>A (p.His2385Gln) | |
| 13 | g.32355104C= | CA2082810240 | BRCA2 | c.7251C= (p.His2417=) c.6882C= (p.His2294=) n.7251C= c.7155C= (p.His2385=) | |
| 13 | g.32355104C>G | CA387740475 | BRCA2 | c.7251C>G (p.His2417Gln) c.6882C>G (p.His2294Gln) n.7251C>G c.7155C>G (p.His2385Gln) | dbSNP gnomAD v4 |
| 13 | g.32355104C>T | CA10579730 | BRCA2 | c.7251C>T (p.His2417=) c.6882C>T (p.His2294=) n.7251C>T c.7155C>T (p.His2385=) | ClinVar dbSNP |
| 13 | g.32355104_32355105delinsCA | CA2082810246 | BRCA2 | c.7251_7252delinsCA (p.His2417=) c.6882_6883delinsCA (p.His2294=) n.7251_7252delinsCA c.7155_7156delinsCA (p.His2385=) | |
| 13 | g.32355104_32355106delinsCAG | CA2082810223 | BRCA2 | c.7251_7253delinsCAG (p.His2417=) c.6882_6884delinsCAG (p.His2294=) n.7251_7253delinsCAG c.7155_7157delinsCAG (p.His2385=) | |
| 13 | g.32355105del | CA658656415 | BRCA2 | c.7252del (p.Arg2418GlufsTer?) c.6883del (p.Arg2295GlufsTer?) n.7252del c.7156del (p.Arg2386GlufsTer?) | ClinVar dbSNP |
| 13 | g.32355105A= | CA2082810268 | BRCA2 | c.7252A= (p.Arg2418=) c.6883A= (p.Arg2295=) n.7252A= c.7156A= (p.Arg2386=) | |
| 13 | g.32355105A>C | CA483439791 | BRCA2 | c.7252A>C (p.Arg2418=) c.6883A>C (p.Arg2295=) n.7252A>C c.7156A>C (p.Arg2386=) | |
| 13 | g.32355105A>G | CA024996 | BRCA2 | c.7252A>G (p.Arg2418Gly) c.6883A>G (p.Arg2295Gly) n.7252A>G c.7156A>G (p.Arg2386Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355105A>T | CA387740481 | BRCA2 | c.7252A>T (p.Arg2418Ter) c.6883A>T (p.Arg2295Ter) n.7252A>T c.7156A>T (p.Arg2386Ter) | ClinVar dbSNP |
| 13 | g.32355107_32355108del | CA025000 | BRCA2 | c.7254_7255del (p.Arg2418SerfsTer2) c.6885_6886del (p.Arg2295SerfsTer2) n.7254_7255del c.7158_7159del (p.Arg2386SerfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355106G>A | CA024998 | BRCA2 | c.7253G>A (p.Arg2418Lys) c.6884G>A (p.Arg2295Lys) n.7253G>A c.7157G>A (p.Arg2386Lys) | ClinVar dbSNP |
| 13 | g.32355106G>C | CA387740495 | BRCA2 | c.7253G>C (p.Arg2418Thr) c.6884G>C (p.Arg2295Thr) n.7253G>C c.7157G>C (p.Arg2386Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32355106G= | CA2082810275 | BRCA2 | c.7253G= (p.Arg2418=) c.6884G= (p.Arg2295=) n.7253G= c.7157G= (p.Arg2386=) | |
| 13 | g.32355106G>T | CA387740493 | BRCA2 | c.7253G>T (p.Arg2418Ile) c.6884G>T (p.Arg2295Ile) n.7253G>T c.7157G>T (p.Arg2386Ile) | dbSNP COSMIC COSMIC |
| 13 | g.32355107A>C | CA387740496 | BRCA2 | c.7254A>C (p.Arg2418Ser) c.6885A>C (p.Arg2295Ser) n.7254A>C c.7158A>C (p.Arg2386Ser) | |
| 13 | g.32355107A>G | CA483439792 | BRCA2 | c.7254A>G (p.Arg2418=) c.6885A>G (p.Arg2295=) n.7254A>G c.7158A>G (p.Arg2386=) | |
| 13 | g.32355107A>T | CA387740505 | BRCA2 | c.7254A>T (p.Arg2418Ser) c.6885A>T (p.Arg2295Ser) n.7254A>T c.7158A>T (p.Arg2386Ser) | dbSNP |
| 13 | g.32355108G>A | CA387740507 | BRCA2 | c.7255G>A (p.Val2419Ile) c.6886G>A (p.Val2296Ile) n.7255G>A c.7159G>A (p.Val2387Ile) | ClinVar |
| 13 | g.32355108G>C | CA387740508 | BRCA2 | c.7255G>C (p.Val2419Leu) c.6886G>C (p.Val2296Leu) n.7255G>C c.7159G>C (p.Val2387Leu) | |
| 13 | g.32355108G= | CA2082810279 | BRCA2 | c.7255G= (p.Val2419=) c.6886G= (p.Val2296=) n.7255G= c.7159G= (p.Val2387=) | |
| 13 | g.32355108G>T | CA387740509 | BRCA2 | c.7255G>T (p.Val2419Phe) c.6886G>T (p.Val2296Phe) n.7255G>T c.7159G>T (p.Val2387Phe) | ClinVar dbSNP |
| 13 | g.32355109T>A | CA387740510 | BRCA2 | c.7256T>A (p.Val2419Asp) c.6887T>A (p.Val2296Asp) n.7256T>A c.7160T>A (p.Val2387Asp) | dbSNP |
| 13 | g.32355109T>C | CA387740513 | BRCA2 | c.7256T>C (p.Val2419Ala) c.6887T>C (p.Val2296Ala) n.7256T>C c.7160T>C (p.Val2387Ala) | dbSNP gnomAD v4 |
| 13 | g.32355109T>G | CA387740514 | BRCA2 | c.7256T>G (p.Val2419Gly) c.6887T>G (p.Val2296Gly) n.7256T>G c.7160T>G (p.Val2387Gly) | ClinVar |
| 13 | g.32355109T= | CA2082810295 | BRCA2 | c.7256T= (p.Val2419=) c.6887T= (p.Val2296=) n.7256T= c.7160T= (p.Val2387=) | |
| 13 | g.32355110T>A | CA483439793 | BRCA2 | c.7257T>A (p.Val2419=) c.6888T>A (p.Val2296=) n.7257T>A c.7161T>A (p.Val2387=) | dbSNP |
| 13 | g.32355110T>C | CA247468604 | BRCA2 | c.7257T>C (p.Val2419=) c.6888T>C (p.Val2296=) n.7257T>C c.7161T>C (p.Val2387=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355110T>G | CA483439794 | BRCA2 | c.7257T>G (p.Val2419=) c.6888T>G (p.Val2296=) n.7257T>G c.7161T>G (p.Val2387=) | |
| 13 | g.32355110T= | CA2082810303 | BRCA2 | c.7257T= (p.Val2419=) c.6888T= (p.Val2296=) n.7257T= c.7161T= (p.Val2387=) | |
| 13 | g.32355110_32355111dup | CA919242720 | BRCA2 | c.7257_7258dup (p.Glu2420ValfsTer?) c.6888_6889dup (p.Glu2297ValfsTer?) n.7257_7258dup c.7161_7162dup (p.Glu2388ValfsTer?) | dbSNP |
| 13 | g.32355112_32355118del | CA2499222277 | BRCA2 | c.7259_7265del (p.Glu2420ValfsTer?) c.6890_6896del (p.Glu2297ValfsTer?) n.7259_7265del c.7163_7169del (p.Glu2388ValfsTer?) |