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.32380108_32380117del | CA658656440 | BRCA2 | c.9219_9228del (p.Ile3075SerfsTer5) c.*586_*595del (n.*586_*595del) c.8850_8859del (p.Ile2952SerfsTer5) c.*781_*790del (n.*781_*790del) c.9168_9177del (p.Ile3058SerfsTer5) c.1635_1644del (p.Ile547SerfsTer5) n.1346_1355del c.9227_9236del (n.9227_9236del) c.2097_2106del c.102_111del (p.Ile36SerfsTer5) c.176_185del c.9123_9132del (p.Ile3043SerfsTer5) | ClinVar dbSNP |
| 13 | g.32380120_32380121insCAGGATTT | CA2739277527 | BRCA2 | c.9231_9232insCAGGATTT (p.Val3078GlnfsTer8) c.*598_*599insCAGGATTT (n.*598_*599insCAGGATTT) c.8862_8863insCAGGATTT (p.Val2955GlnfsTer8) c.*793_*794insCAGGATTT (n.*793_*794insCAGGATTT) c.9180_9181insCAGGATTT (p.Val3061GlnfsTer8) c.1647_1648insCAGGATTT (p.Val550GlnfsTer8) n.1358_1359insCAGGATTT c.9239_9240insCAGGATTT (n.9239_9240insCAGGATTT) c.2109_2110insCAGGATTT c.114_115insCAGGATTT (p.Val39GlnfsTer8) c.188_189insCAGGATTT c.9135_9136insCAGGATTT (p.Val3046GlnfsTer8) | ClinVar |
| 13 | g.32380116del | CA026039 | BRCA2 | c.9227del (p.Gly3076AspfsTer7) c.*594del (n.*594del) c.8858del (p.Gly2953AspfsTer7) c.*789del (n.*789del) c.9176del (p.Gly3059AspfsTer7) c.1643del (p.Gly548AspfsTer7) n.1354del c.9235del (n.9235del) c.2105del c.110del (p.Gly37AspfsTer7) c.184del c.9131del (p.Gly3044AspfsTer7) | ClinVar dbSNP |
| 13 | g.32380116G>A | CA026040 | BRCA2 | c.9227G>A (p.Gly3076Glu) c.*594G>A (n.*594G>A) c.8858G>A (p.Gly2953Glu) c.*789G>A (n.*789G>A) c.9176G>A (p.Gly3059Glu) c.1643G>A (p.Gly548Glu) n.1354G>A c.9235G>A (n.9235G>A) c.2105G>A c.110G>A (p.Gly37Glu) c.184G>A c.9131G>A (p.Gly3044Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32380116G>C | CA387758525 | BRCA2 | c.9227G>C (p.Gly3076Ala) c.*594G>C (n.*594G>C) c.8858G>C (p.Gly2953Ala) c.*789G>C (n.*789G>C) c.9176G>C (p.Gly3059Ala) c.1643G>C (p.Gly548Ala) n.1354G>C c.9235G>C (n.9235G>C) c.2105G>C c.110G>C (p.Gly37Ala) c.184G>C c.9131G>C (p.Gly3044Ala) | dbSNP |
| 13 | g.32380116G= | CA2082840997 | BRCA2 | c.9227G= (p.Gly3076=) c.*594G= (n.*594G=) c.8858G= (p.Gly2953=) c.*789G= (n.*789G=) c.9176G= (p.Gly3059=) c.1643G= (p.Gly548=) n.1354G= c.9235G= (n.9235G=) c.2105G= c.110G= (p.Gly37=) c.184G= c.9131G= (p.Gly3044=) | |
| 13 | g.32380116G>T | CA026041 | BRCA2 | c.9227G>T (p.Gly3076Val) c.*594G>T (n.*594G>T) c.8858G>T (p.Gly2953Val) c.*789G>T (n.*789G>T) c.9176G>T (p.Gly3059Val) c.1643G>T (p.Gly548Val) n.1354G>T c.9235G>T (n.9235G>T) c.2105G>T c.110G>T (p.Gly37Val) c.184G>T c.9131G>T (p.Gly3044Val) | ClinVar dbSNP |
| 13 | g.32380117A= | CA2082841005 | BRCA2 | c.9228A= (p.Gly3076=) c.*595A= (n.*595A=) c.8859A= (p.Gly2953=) c.*790A= (n.*790A=) c.9177A= (p.Gly3059=) c.1644A= (p.Gly548=) n.1355A= c.9236A= (n.9236A=) c.2106A= c.111A= (p.Gly37=) c.185A= c.9132A= (p.Gly3044=) | |
| 13 | g.32380117A>C | CA483262122 | BRCA2 | c.9228A>C (p.Gly3076=) c.*595A>C (n.*595A>C) c.8859A>C (p.Gly2953=) c.*790A>C (n.*790A>C) c.9177A>C (p.Gly3059=) c.1644A>C (p.Gly548=) n.1355A>C c.9236A>C (n.9236A>C) c.2106A>C c.111A>C (p.Gly37=) c.185A>C c.9132A>C (p.Gly3044=) | |
| 13 | g.32380117A>G | CA483262124 | BRCA2 | c.9228A>G (p.Gly3076=) c.*595A>G (n.*595A>G) c.8859A>G (p.Gly2953=) c.*790A>G (n.*790A>G) c.9177A>G (p.Gly3059=) c.1644A>G (p.Gly548=) n.1355A>G c.9236A>G (n.9236A>G) c.2106A>G c.111A>G (p.Gly37=) c.185A>G c.9132A>G (p.Gly3044=) | |
| 13 | g.32380117A>T | CA10579819 | BRCA2 | c.9228A>T (p.Gly3076=) c.*595A>T (n.*595A>T) c.8859A>T (p.Gly2953=) c.*790A>T (n.*790A>T) c.9177A>T (p.Gly3059=) c.1644A>T (p.Gly548=) n.1355A>T c.9236A>T (n.9236A>T) c.2106A>T c.111A>T (p.Gly37=) c.185A>T c.9132A>T (p.Gly3044=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32380118T>A | CA387758527 | BRCA2 | c.9229T>A (p.Phe3077Ile) c.*596T>A (n.*596T>A) c.8860T>A (p.Phe2954Ile) c.*791T>A (n.*791T>A) c.9178T>A (p.Phe3060Ile) c.1645T>A (p.Phe549Ile) n.1356T>A c.9237T>A (n.9237T>A) c.2107T>A c.112T>A (p.Phe38Ile) c.186T>A c.9133T>A (p.Phe3045Ile) | |
| 13 | g.32380118T>C | CA387758532 | BRCA2 | c.9229T>C (p.Phe3077Leu) c.*596T>C (n.*596T>C) c.8860T>C (p.Phe2954Leu) c.*791T>C (n.*791T>C) c.9178T>C (p.Phe3060Leu) c.1645T>C (p.Phe549Leu) n.1356T>C c.9237T>C (n.9237T>C) c.2107T>C c.112T>C (p.Phe38Leu) c.186T>C c.9133T>C (p.Phe3045Leu) | ClinVar dbSNP |
| 13 | g.32380118T>G | CA387758530 | BRCA2 | c.9229T>G (p.Phe3077Val) c.*596T>G (n.*596T>G) c.8860T>G (p.Phe2954Val) c.*791T>G (n.*791T>G) c.9178T>G (p.Phe3060Val) c.1645T>G (p.Phe549Val) n.1356T>G c.9237T>G (n.9237T>G) c.2107T>G c.112T>G (p.Phe38Val) c.186T>G c.9133T>G (p.Phe3045Val) | dbSNP |
| 13 | g.32380118T= | CA2082841014 | BRCA2 | c.9229T= (p.Phe3077=) c.*596T= (n.*596T=) c.8860T= (p.Phe2954=) c.*791T= (n.*791T=) c.9178T= (p.Phe3060=) c.1645T= (p.Phe549=) n.1356T= c.9237T= (n.9237T=) c.2107T= c.112T= (p.Phe38=) c.186T= c.9133T= (p.Phe3045=) | |
| 13 | g.32380119T>A | CA387758535 | BRCA2 | c.9230T>A (p.Phe3077Tyr) c.*597T>A (n.*597T>A) c.8861T>A (p.Phe2954Tyr) c.*792T>A (n.*792T>A) c.9179T>A (p.Phe3060Tyr) c.1646T>A (p.Phe549Tyr) n.1357T>A c.9238T>A (n.9238T>A) c.2108T>A c.113T>A (p.Phe38Tyr) c.187T>A c.9134T>A (p.Phe3045Tyr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380119T>C | CA387758538 | BRCA2 | c.9230T>C (p.Phe3077Ser) c.*597T>C (n.*597T>C) c.8861T>C (p.Phe2954Ser) c.*792T>C (n.*792T>C) c.9179T>C (p.Phe3060Ser) c.1646T>C (p.Phe549Ser) n.1357T>C c.9238T>C (n.9238T>C) c.2108T>C c.113T>C (p.Phe38Ser) c.187T>C c.9134T>C (p.Phe3045Ser) | |
| 13 | g.32380119T>G | CA387758541 | BRCA2 | c.9230T>G (p.Phe3077Cys) c.*597T>G (n.*597T>G) c.8861T>G (p.Phe2954Cys) c.*792T>G (n.*792T>G) c.9179T>G (p.Phe3060Cys) c.1646T>G (p.Phe549Cys) n.1357T>G c.9238T>G (n.9238T>G) c.2108T>G c.113T>G (p.Phe38Cys) c.187T>G c.9134T>G (p.Phe3045Cys) | |
| 13 | g.32380119T= | CA2082841022 | BRCA2 | c.9230T= (p.Phe3077=) c.*597T= (n.*597T=) c.8861T= (p.Phe2954=) c.*792T= (n.*792T=) c.9179T= (p.Phe3060=) c.1646T= (p.Phe549=) n.1357T= c.9238T= (n.9238T=) c.2108T= c.113T= (p.Phe38=) c.187T= c.9134T= (p.Phe3045=) | |
| 13 | g.32380120T>A | CA387758542 | BRCA2 | c.9231T>A (p.Phe3077Leu) c.*598T>A (n.*598T>A) c.8862T>A (p.Phe2954Leu) c.*793T>A (n.*793T>A) c.9180T>A (p.Phe3060Leu) c.1647T>A (p.Phe549Leu) n.1358T>A c.9239T>A (n.9239T>A) c.2109T>A c.114T>A (p.Phe38Leu) c.188T>A c.9135T>A (p.Phe3045Leu) | dbSNP |
| 13 | g.32380120T>C | CA483262125 | BRCA2 | c.9231T>C (p.Phe3077=) c.*598T>C (n.*598T>C) c.8862T>C (p.Phe2954=) c.*793T>C (n.*793T>C) c.9180T>C (p.Phe3060=) c.1647T>C (p.Phe549=) n.1358T>C c.9239T>C (n.9239T>C) c.2109T>C c.114T>C (p.Phe38=) c.188T>C c.9135T>C (p.Phe3045=) | |
| 13 | g.32380120T>G | CA387758544 | BRCA2 | c.9231T>G (p.Phe3077Leu) c.*598T>G (n.*598T>G) c.8862T>G (p.Phe2954Leu) c.*793T>G (n.*793T>G) c.9180T>G (p.Phe3060Leu) c.1647T>G (p.Phe549Leu) n.1358T>G c.9239T>G (n.9239T>G) c.2109T>G c.114T>G (p.Phe38Leu) c.188T>G c.9135T>G (p.Phe3045Leu) | |
| 13 | g.32380120_32380123delinsTGTC | CA2082841032 | BRCA2 | c.9231_9234delinsTGTC (p.Phe3077=) c.*598_*601delinsTGTC (n.*598_*601delinsTGTC) c.8862_8865delinsTGTC (p.Phe2954=) c.*793_*796delinsTGTC (n.*793_*796delinsTGTC) c.9180_9183delinsTGTC (p.Phe3060=) c.1647_1650delinsTGTC (p.Phe549=) n.1358_1361delinsTGTC c.9239_9242delinsTGTC (n.9239_9242delinsTGTC) c.2109_2112delinsTGTC c.114_117delinsTGTC (p.Phe38=) c.188_191delinsTGTC c.9135_9138delinsTGTC (p.Phe3045=) | |
| 13 | g.32380121G>A | CA387758547 | BRCA2 | c.9232G>A (p.Val3078Ile) c.*599G>A (n.*599G>A) c.8863G>A (p.Val2955Ile) c.*794G>A (n.*794G>A) c.9181G>A (p.Val3061Ile) c.1648G>A (p.Val550Ile) n.1359G>A c.9240G>A (n.9240G>A) c.2110G>A c.115G>A (p.Val39Ile) c.189G>A c.9136G>A (p.Val3046Ile) | dbSNP |
| 13 | g.32380121G>C | CA387758550 | BRCA2 | c.9232G>C (p.Val3078Leu) c.*599G>C (n.*599G>C) c.8863G>C (p.Val2955Leu) c.*794G>C (n.*794G>C) c.9181G>C (p.Val3061Leu) c.1648G>C (p.Val550Leu) n.1359G>C c.9240G>C (n.9240G>C) c.2110G>C c.115G>C (p.Val39Leu) c.189G>C c.9136G>C (p.Val3046Leu) | dbSNP |
| 13 | g.32380121G= | CA2082841041 | BRCA2 | c.9232G= (p.Val3078=) c.*599G= (n.*599G=) c.8863G= (p.Val2955=) c.*794G= (n.*794G=) c.9181G= (p.Val3061=) c.1648G= (p.Val550=) n.1359G= c.9240G= (n.9240G=) c.2110G= c.115G= (p.Val39=) c.189G= c.9136G= (p.Val3046=) | |
| 13 | g.32380121G>T | CA387758553 | BRCA2 | c.9232G>T (p.Val3078Phe) c.*599G>T (n.*599G>T) c.8863G>T (p.Val2955Phe) c.*794G>T (n.*794G>T) c.9181G>T (p.Val3061Phe) c.1648G>T (p.Val550Phe) n.1359G>T c.9240G>T (n.9240G>T) c.2110G>T c.115G>T (p.Val39Phe) c.189G>T c.9136G>T (p.Val3046Phe) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380121_32380122delinsGT | CA2082841039 | BRCA2 | c.9232_9233delinsGT (p.Val3078=) c.*599_*600delinsGT (n.*599_*600delinsGT) c.8863_8864delinsGT (p.Val2955=) c.*794_*795delinsGT (n.*794_*795delinsGT) c.9181_9182delinsGT (p.Val3061=) c.1648_1649delinsGT (p.Val550=) n.1359_1360delinsGT c.9240_9241delinsGT (n.9240_9241delinsGT) c.2110_2111delinsGT c.115_116delinsGT (p.Val39=) c.189_190delinsGT c.9136_9137delinsGT (p.Val3046=) | |
| 13 | g.32380123_32380125del | CA1139663171 | BRCA2 | c.9234_9236del (p.Val3079del) c.*601_*603del (n.*601_*603del) c.8865_8867del (p.Val2956del) c.*796_*798del (n.*796_*798del) c.9183_9185del (p.Val3062del) c.1650_1652del (p.Val551del) n.1361_1363del c.9242_9244del (n.9242_9244del) c.2112_2114del c.117_119del (p.Val40del) c.191_193del c.9138_9140del (p.Val3047del) | ClinVar dbSNP |
| 13 | g.32380122del | CA10579820 | BRCA2 | c.9233del (p.Val3078AlafsTer5) c.*600del (n.*600del) c.8864del (p.Val2955AlafsTer5) c.*795del (n.*795del) c.9182del (p.Val3061AlafsTer5) c.1649del (p.Val550AlafsTer5) n.1360del c.9241del (n.9241del) c.2111del c.116del (p.Val39AlafsTer5) c.190del c.9137del (p.Val3046AlafsTer5) | ClinVar dbSNP |
| 13 | g.32380122T>A | CA387758555 | BRCA2 | c.9233T>A (p.Val3078Asp) c.*600T>A (n.*600T>A) c.8864T>A (p.Val2955Asp) c.*795T>A (n.*795T>A) c.9182T>A (p.Val3061Asp) c.1649T>A (p.Val550Asp) n.1360T>A c.9241T>A (n.9241T>A) c.2111T>A c.116T>A (p.Val39Asp) c.190T>A c.9137T>A (p.Val3046Asp) | dbSNP |
| 13 | g.32380122T>C | CA387758558 | BRCA2 | c.9233T>C (p.Val3078Ala) c.*600T>C (n.*600T>C) c.8864T>C (p.Val2955Ala) c.*795T>C (n.*795T>C) c.9182T>C (p.Val3061Ala) c.1649T>C (p.Val550Ala) n.1360T>C c.9241T>C (n.9241T>C) c.2111T>C c.116T>C (p.Val39Ala) c.190T>C c.9137T>C (p.Val3046Ala) | dbSNP |
| 13 | g.32380122T>G | CA387758568 | BRCA2 | c.9233T>G (p.Val3078Gly) c.*600T>G (n.*600T>G) c.8864T>G (p.Val2955Gly) c.*795T>G (n.*795T>G) c.9182T>G (p.Val3061Gly) c.1649T>G (p.Val550Gly) n.1360T>G c.9241T>G (n.9241T>G) c.2111T>G c.116T>G (p.Val39Gly) c.190T>G c.9137T>G (p.Val3046Gly) | |
| 13 | g.32380123C>A | CA483262128 | BRCA2 | c.9234C>A (p.Val3078=) c.*601C>A (n.*601C>A) c.8865C>A (p.Val2955=) c.*796C>A (n.*796C>A) c.9183C>A (p.Val3061=) c.1650C>A (p.Val550=) n.1361C>A c.9242C>A (n.9242C>A) c.2112C>A c.117C>A (p.Val39=) c.191C>A c.9138C>A (p.Val3046=) | dbSNP gnomAD v4 |
| 13 | g.32380123C= | CA2082841061 | BRCA2 | c.9234C= (p.Val3078=) c.*601C= (n.*601C=) c.8865C= (p.Val2955=) c.*796C= (n.*796C=) c.9183C= (p.Val3061=) c.1650C= (p.Val550=) n.1361C= c.9242C= (n.9242C=) c.2112C= c.117C= (p.Val39=) c.191C= c.9138C= (p.Val3046=) | |
| 13 | g.32380123C>G | CA483262129 | BRCA2 | c.9234C>G (p.Val3078=) c.*601C>G (n.*601C>G) c.8865C>G (p.Val2955=) c.*796C>G (n.*796C>G) c.9183C>G (p.Val3061=) c.1650C>G (p.Val550=) n.1361C>G c.9242C>G (n.9242C>G) c.2112C>G c.117C>G (p.Val39=) c.191C>G c.9138C>G (p.Val3046=) | ClinVar dbSNP |
| 13 | g.32380123C>T | CA026042 | BRCA2 | c.9234C>T (p.Val3078=) c.*601C>T (n.*601C>T) c.8865C>T (p.Val2955=) c.*796C>T (n.*796C>T) c.9183C>T (p.Val3061=) c.1650C>T (p.Val550=) n.1361C>T c.9242C>T (n.9242C>T) c.2112C>T c.117C>T (p.Val39=) c.191C>T c.9138C>T (p.Val3046=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380123_32380124delinsCG | CA2082841060 | BRCA2 | c.9234_9235delinsCG (p.Val3078=) c.*601_*602delinsCG (n.*601_*602delinsCG) c.8865_8866delinsCG (p.Val2955=) c.*796_*797delinsCG (n.*796_*797delinsCG) c.9183_9184delinsCG (p.Val3061=) c.1650_1651delinsCG (p.Val550=) n.1361_1362delinsCG c.9242_9243delinsCG (n.9242_9243delinsCG) c.2112_2113delinsCG c.117_118delinsCG (p.Val39=) c.191_192delinsCG c.9138_9139delinsCG (p.Val3046=) | |
| 13 | g.32380124del | CA026043 | BRCA2 | c.9235del (p.Val3079PhefsTer4) c.*602del (n.*602del) c.8866del (p.Val2956PhefsTer4) c.*797del (n.*797del) c.9184del (p.Val3062PhefsTer4) c.1651del (p.Val551PhefsTer4) n.1362del c.9243del (n.9243del) c.2113del c.118del (p.Val40PhefsTer4) c.192del c.9139del (p.Val3047PhefsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380124G>A | CA026044 | BRCA2 | c.9235G>A (p.Val3079Ile) c.*602G>A (n.*602G>A) c.8866G>A (p.Val2956Ile) c.*797G>A (n.*797G>A) c.9184G>A (p.Val3062Ile) c.1651G>A (p.Val551Ile) n.1362G>A c.9243G>A (n.9243G>A) c.2113G>A c.118G>A (p.Val40Ile) c.192G>A c.9139G>A (p.Val3047Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380124G>C | CA387758582 | BRCA2 | c.9235G>C (p.Val3079Leu) c.*602G>C (n.*602G>C) c.8866G>C (p.Val2956Leu) c.*797G>C (n.*797G>C) c.9184G>C (p.Val3062Leu) c.1651G>C (p.Val551Leu) n.1362G>C c.9243G>C (n.9243G>C) c.2113G>C c.118G>C (p.Val40Leu) c.192G>C c.9139G>C (p.Val3047Leu) | ClinVar dbSNP |
| 13 | g.32380124G= | CA2082841077 | BRCA2 | c.9235G= (p.Val3079=) c.*602G= (n.*602G=) c.8866G= (p.Val2956=) c.*797G= (n.*797G=) c.9184G= (p.Val3062=) c.1651G= (p.Val551=) n.1362G= c.9243G= (n.9243G=) c.2113G= c.118G= (p.Val40=) c.192G= c.9139G= (p.Val3047=) | |
| 13 | g.32380124G>T | CA247495088 | BRCA2 | c.9235G>T (p.Val3079Phe) c.*602G>T (n.*602G>T) c.8866G>T (p.Val2956Phe) c.*797G>T (n.*797G>T) c.9184G>T (p.Val3062Phe) c.1651G>T (p.Val551Phe) n.1362G>T c.9243G>T (n.9243G>T) c.2113G>T c.118G>T (p.Val40Phe) c.192G>T c.9139G>T (p.Val3047Phe) | ClinVar dbSNP |
| 13 | g.32380125T>A | CA387758586 | BRCA2 | c.9236T>A (p.Val3079Asp) c.*603T>A (n.*603T>A) c.8867T>A (p.Val2956Asp) c.*798T>A (n.*798T>A) c.9185T>A (p.Val3062Asp) c.1652T>A (p.Val551Asp) n.1363T>A c.9244T>A (n.9244T>A) c.2114T>A c.119T>A (p.Val40Asp) c.193T>A c.9140T>A (p.Val3047Asp) | dbSNP |
| 13 | g.32380125T>C | CA387758587 | BRCA2 | c.9236T>C (p.Val3079Ala) c.*603T>C (n.*603T>C) c.8867T>C (p.Val2956Ala) c.*798T>C (n.*798T>C) c.9185T>C (p.Val3062Ala) c.1652T>C (p.Val551Ala) n.1363T>C c.9244T>C (n.9244T>C) c.2114T>C c.119T>C (p.Val40Ala) c.193T>C c.9140T>C (p.Val3047Ala) | |
| 13 | g.32380125T>G | CA387758589 | BRCA2 | c.9236T>G (p.Val3079Gly) c.*603T>G (n.*603T>G) c.8867T>G (p.Val2956Gly) c.*798T>G (n.*798T>G) c.9185T>G (p.Val3062Gly) c.1652T>G (p.Val551Gly) n.1363T>G c.9244T>G (n.9244T>G) c.2114T>G c.119T>G (p.Val40Gly) c.193T>G c.9140T>G (p.Val3047Gly) | |
| 13 | g.32380127del | CA2695217964 | BRCA2 | c.9238del (p.Ser3080LeufsTer3) c.*605del (n.*605del) c.8869del (p.Ser2957LeufsTer3) c.*800del (n.*800del) c.9187del (p.Ser3063LeufsTer3) c.1654del (p.Ser552LeufsTer3) n.1365del c.9246del (n.9246del) c.2116del c.121del (p.Ser41LeufsTer3) c.195del c.9142del (p.Ser3048LeufsTer3) |