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.32394714_32394819del | CA2695217927 | BRCA2 | c.9282_9387del (p.Asp3095AsnfsTer?) c.*649_*754del (n.*649_*754del) c.8913_9018del (p.Asp2972AsnfsTer?) c.*844_*949del (n.*844_*949del) c.*127_*232del (n.*127_*232del) c.9231_9336del (p.Asp3078AsnfsTer?) c.1698_1803del (p.Asp567AsnfsTer?) n.1409_1514del c.9290_9395del (n.9290_9395del) c.2160_2265del c.304_409del (n.304_409del) c.239_344del c.9186_9291del (p.Asp3063AsnfsTer?) | |
| 13 | g.32394714_32394829del | CA2695217928 | BRCA2 | c.9282_9397del (p.Asp3095ArgfsTer16) c.*649_*764del (n.*649_*764del) c.8913_9028del (p.Asp2972ArgfsTer16) c.*844_*959del (n.*844_*959del) c.*127_*242del (n.*127_*242del) c.9231_9346del (p.Asp3078ArgfsTer16) c.1698_1813del (p.Asp567ArgfsTer16) n.1409_1524del c.9290_9405del (n.9290_9405del) c.2160_2275del c.304_419del (n.304_419del) c.239_354del c.9186_9301del (p.Asp3063ArgfsTer16) | |
| 13 | g.32394741_32394762dup | CA16619789 | BRCA2 | c.9309_9330dup (p.Glu3111LysfsTer7) c.*676_*697dup (n.*676_*697dup) c.8940_8961dup (p.Glu2988LysfsTer7) c.*871_*892dup (n.*871_*892dup) c.*154_*175dup (n.*154_*175dup) c.9258_9279dup (p.Glu3094LysfsTer7) c.1725_1746dup (p.Glu583LysfsTer7) n.1436_1457dup c.9317_9338dup (n.9317_9338dup) c.2187_2208dup c.331_352dup (n.331_352dup) c.266_287dup c.9213_9234dup (p.Glu3079LysfsTer7) | ClinVar dbSNP |
| 13 | g.32394757del | CA16619790 | BRCA2 | c.9325del (p.Asn3110MetfsTer10) c.*692del (n.*692del) c.8956del (p.Asn2987MetfsTer10) c.*887del (n.*887del) c.*170del (n.*170del) c.9274del (p.Asn3093MetfsTer10) c.1741del (p.Asn582MetfsTer10) n.1452del c.9333del (n.9333del) c.2203del c.347del (n.347del) c.282del c.9229del (p.Asn3078MetfsTer10) | ClinVar dbSNP |
| 13 | g.32394757C>A | CA387760983 | BRCA2 | c.9325C>A (p.Leu3109Ile) c.*692C>A (n.*692C>A) c.8956C>A (p.Leu2986Ile) c.*887C>A (n.*887C>A) c.*170C>A (n.*170C>A) c.9274C>A (p.Leu3092Ile) c.1741C>A (p.Leu581Ile) n.1452C>A c.9333C>A (n.9333C>A) c.2203C>A c.347C>A (n.347C>A) c.282C>A c.9229C>A (p.Leu3077Ile) | dbSNP |
| 13 | g.32394757C= | CA2082822710 | BRCA2 | c.9325C= (p.Leu3109=) c.*692C= (n.*692C=) c.8956C= (p.Leu2986=) c.*887C= (n.*887C=) c.*170C= (n.*170C=) c.9274C= (p.Leu3092=) c.1741C= (p.Leu581=) n.1452C= c.9333C= (n.9333C=) c.2203C= c.347C= (n.347C=) c.282C= c.9229C= (p.Leu3077=) | |
| 13 | g.32394757C>G | CA387760984 | BRCA2 | c.9325C>G (p.Leu3109Val) c.*692C>G (n.*692C>G) c.8956C>G (p.Leu2986Val) c.*887C>G (n.*887C>G) c.*170C>G (n.*170C>G) c.9274C>G (p.Leu3092Val) c.1741C>G (p.Leu581Val) n.1452C>G c.9333C>G (n.9333C>G) c.2203C>G c.347C>G (n.347C>G) c.282C>G c.9229C>G (p.Leu3077Val) | dbSNP |
| 13 | g.32394757C>T | CA387760985 | BRCA2 | c.9325C>T (p.Leu3109Phe) c.*692C>T (n.*692C>T) c.8956C>T (p.Leu2986Phe) c.*887C>T (n.*887C>T) c.*170C>T (n.*170C>T) c.9274C>T (p.Leu3092Phe) c.1741C>T (p.Leu581Phe) n.1452C>T c.9333C>T (n.9333C>T) c.2203C>T c.347C>T (n.347C>T) c.282C>T c.9229C>T (p.Leu3077Phe) | ClinVar dbSNP |
| 13 | g.32394758T>A | CA387760992 | BRCA2 | c.9326T>A (p.Leu3109His) c.*693T>A (n.*693T>A) c.8957T>A (p.Leu2986His) c.*888T>A (n.*888T>A) c.*171T>A (n.*171T>A) c.9275T>A (p.Leu3092His) c.1742T>A (p.Leu581His) n.1453T>A c.9334T>A (n.9334T>A) c.2204T>A c.348T>A (n.348T>A) c.283T>A c.9230T>A (p.Leu3077His) | dbSNP |
| 13 | g.32394758T>C | CA387760988 | BRCA2 | c.9326T>C (p.Leu3109Pro) c.*693T>C (n.*693T>C) c.8957T>C (p.Leu2986Pro) c.*888T>C (n.*888T>C) c.*171T>C (n.*171T>C) c.9275T>C (p.Leu3092Pro) c.1742T>C (p.Leu581Pro) n.1453T>C c.9334T>C (n.9334T>C) c.2204T>C c.348T>C (n.348T>C) c.283T>C c.9230T>C (p.Leu3077Pro) | ClinVar dbSNP |
| 13 | g.32394758T>G | CA387760990 | BRCA2 | c.9326T>G (p.Leu3109Arg) c.*693T>G (n.*693T>G) c.8957T>G (p.Leu2986Arg) c.*888T>G (n.*888T>G) c.*171T>G (n.*171T>G) c.9275T>G (p.Leu3092Arg) c.1742T>G (p.Leu581Arg) n.1453T>G c.9334T>G (n.9334T>G) c.2204T>G c.348T>G (n.348T>G) c.283T>G c.9230T>G (p.Leu3077Arg) | |
| 13 | g.32394759T>A | CA483271068 | BRCA2 | c.9327T>A (p.Leu3109=) c.*694T>A (n.*694T>A) c.8958T>A (p.Leu2986=) c.*889T>A (n.*889T>A) c.*172T>A (n.*172T>A) c.9276T>A (p.Leu3092=) c.1743T>A (p.Leu581=) n.1454T>A c.9335T>A (n.9335T>A) c.2205T>A c.349T>A (n.349T>A) c.284T>A c.9231T>A (p.Leu3077=) | |
| 13 | g.32394759T>C | CA483271071 | BRCA2 | c.9327T>C (p.Leu3109=) c.*694T>C (n.*694T>C) c.8958T>C (p.Leu2986=) c.*889T>C (n.*889T>C) c.*172T>C (n.*172T>C) c.9276T>C (p.Leu3092=) c.1743T>C (p.Leu581=) n.1454T>C c.9335T>C (n.9335T>C) c.2205T>C c.349T>C (n.349T>C) c.284T>C c.9231T>C (p.Leu3077=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32394759T>G | CA483271069 | BRCA2 | c.9327T>G (p.Leu3109=) c.*694T>G (n.*694T>G) c.8958T>G (p.Leu2986=) c.*889T>G (n.*889T>G) c.*172T>G (n.*172T>G) c.9276T>G (p.Leu3092=) c.1743T>G (p.Leu581=) n.1454T>G c.9335T>G (n.9335T>G) c.2205T>G c.349T>G (n.349T>G) c.284T>G c.9231T>G (p.Leu3077=) | ClinVar |
| 13 | g.32394759T= | CA2082822728 | BRCA2 | c.9327T= (p.Leu3109=) c.*694T= (n.*694T=) c.8958T= (p.Leu2986=) c.*889T= (n.*889T=) c.*172T= (n.*172T=) c.9276T= (p.Leu3092=) c.1743T= (p.Leu581=) n.1454T= c.9335T= (n.9335T=) c.2205T= c.349T= (n.349T=) c.284T= c.9231T= (p.Leu3077=) | |
| 13 | g.32394760A>C | CA387760993 | BRCA2 | c.9328A>C (p.Asn3110His) c.*695A>C (n.*695A>C) c.8959A>C (p.Asn2987His) c.*890A>C (n.*890A>C) c.*173A>C (n.*173A>C) c.9277A>C (p.Asn3093His) c.1744A>C (p.Asn582His) n.1455A>C c.9336A>C (n.9336A>C) c.2206A>C c.350A>C (n.350A>C) c.285A>C c.9232A>C (p.Asn3078His) | |
| 13 | g.32394760A>G | CA387760995 | BRCA2 | c.9328A>G (p.Asn3110Asp) c.*695A>G (n.*695A>G) c.8959A>G (p.Asn2987Asp) c.*890A>G (n.*890A>G) c.*173A>G (n.*173A>G) c.9277A>G (p.Asn3093Asp) c.1744A>G (p.Asn582Asp) n.1455A>G c.9336A>G (n.9336A>G) c.2206A>G c.350A>G (n.350A>G) c.285A>G c.9232A>G (p.Asn3078Asp) | |
| 13 | g.32394760A>T | CA387760997 | BRCA2 | c.9328A>T (p.Asn3110Tyr) c.*695A>T (n.*695A>T) c.8959A>T (p.Asn2987Tyr) c.*890A>T (n.*890A>T) c.*173A>T (n.*173A>T) c.9277A>T (p.Asn3093Tyr) c.1744A>T (p.Asn582Tyr) n.1455A>T c.9336A>T (n.9336A>T) c.2206A>T c.350A>T (n.350A>T) c.285A>T c.9232A>T (p.Asn3078Tyr) | dbSNP |
| 13 | g.32394761dup | CA609093422 | BRCA2 | c.9329dup (p.Asn3110LysfsTer2) c.*696dup (n.*696dup) c.8960dup (p.Asn2987LysfsTer2) c.*891dup (n.*891dup) c.*174dup (n.*174dup) c.9278dup (p.Asn3093LysfsTer2) c.1745dup (p.Asn582LysfsTer2) n.1456dup c.9337dup (n.9337dup) c.2207dup c.351dup (n.351dup) c.286dup c.9233dup (p.Asn3078LysfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32394774_32394775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT | CA2499222378 | BRCA2 | c.9342_9343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT c.*709_*710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT (n.*709_*710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT) c.8973_8974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT c.*904_*905insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT (n.*904_*905insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT) c.*187_*188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT (n.*187_*188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT) c.9291_9292insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT c.1758_1759insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT n.1469_1470insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT c.9350_9351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT (n.9350_9351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT) c.2220_2221insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT c.364_365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT (n.364_365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT) c.299_300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT c.9246_9247insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT | ClinVar dbSNP |
| 13 | g.32394761A= | CA2082822756 | BRCA2 | c.9329A= (p.Asn3110=) c.*696A= (n.*696A=) c.8960A= (p.Asn2987=) c.*891A= (n.*891A=) c.*174A= (n.*174A=) c.9278A= (p.Asn3093=) c.1745A= (p.Asn582=) n.1456A= c.9337A= (n.9337A=) c.2207A= c.351A= (n.351A=) c.286A= c.9233A= (p.Asn3078=) | |
| 13 | g.32394761A>C | CA387761000 | BRCA2 | c.9329A>C (p.Asn3110Thr) c.*696A>C (n.*696A>C) c.8960A>C (p.Asn2987Thr) c.*891A>C (n.*891A>C) c.*174A>C (n.*174A>C) c.9278A>C (p.Asn3093Thr) c.1745A>C (p.Asn582Thr) n.1456A>C c.9337A>C (n.9337A>C) c.2207A>C c.351A>C (n.351A>C) c.286A>C c.9233A>C (p.Asn3078Thr) | dbSNP |
| 13 | g.32394761A>G | CA387761003 | BRCA2 | c.9329A>G (p.Asn3110Ser) c.*696A>G (n.*696A>G) c.8960A>G (p.Asn2987Ser) c.*891A>G (n.*891A>G) c.*174A>G (n.*174A>G) c.9278A>G (p.Asn3093Ser) c.1745A>G (p.Asn582Ser) n.1456A>G c.9337A>G (n.9337A>G) c.2207A>G c.351A>G (n.351A>G) c.286A>G c.9233A>G (p.Asn3078Ser) | |
| 13 | g.32394761A>T | CA387761005 | BRCA2 | c.9329A>T (p.Asn3110Ile) c.*696A>T (n.*696A>T) c.8960A>T (p.Asn2987Ile) c.*891A>T (n.*891A>T) c.*174A>T (n.*174A>T) c.9278A>T (p.Asn3093Ile) c.1745A>T (p.Asn582Ile) n.1456A>T c.9337A>T (n.9337A>T) c.2207A>T c.351A>T (n.351A>T) c.286A>T c.9233A>T (p.Asn3078Ile) | dbSNP |
| 13 | g.32394761_32394766delinsATGAGG | CA2082822755 | BRCA2 | c.9329_9334delinsATGAGG (p.Asn3110=) c.*696_*701delinsATGAGG (n.*696_*701delinsATGAGG) c.8960_8965delinsATGAGG (p.Asn2987=) c.*891_*896delinsATGAGG (n.*891_*896delinsATGAGG) c.*174_*179delinsATGAGG (n.*174_*179delinsATGAGG) c.9278_9283delinsATGAGG (p.Asn3093=) c.1745_1750delinsATGAGG (p.Asn582=) n.1456_1461delinsATGAGG c.9337_9342delinsATGAGG (n.9337_9342delinsATGAGG) c.2207_2212delinsATGAGG c.351_356delinsATGAGG (n.351_356delinsATGAGG) c.286_291delinsATGAGG c.9233_9238delinsATGAGG (p.Asn3078=) | |
| 13 | g.32394762T>A | CA387761008 | BRCA2 | c.9330T>A (p.Asn3110Lys) c.*697T>A (n.*697T>A) c.8961T>A (p.Asn2987Lys) c.*892T>A (n.*892T>A) c.*175T>A (n.*175T>A) c.9279T>A (p.Asn3093Lys) c.1746T>A (p.Asn582Lys) n.1457T>A c.9338T>A (n.9338T>A) c.2208T>A c.352T>A (n.352T>A) c.287T>A c.9234T>A (p.Asn3078Lys) | dbSNP |
| 13 | g.32394762T>C | CA483271078 | BRCA2 | c.9330T>C (p.Asn3110=) c.*697T>C (n.*697T>C) c.8961T>C (p.Asn2987=) c.*892T>C (n.*892T>C) c.*175T>C (n.*175T>C) c.9279T>C (p.Asn3093=) c.1746T>C (p.Asn582=) n.1457T>C c.9338T>C (n.9338T>C) c.2208T>C c.352T>C (n.352T>C) c.287T>C c.9234T>C (p.Asn3078=) | ClinVar dbSNP |
| 13 | g.32394762T>G | CA387761009 | BRCA2 | c.9330T>G (p.Asn3110Lys) c.*697T>G (n.*697T>G) c.8961T>G (p.Asn2987Lys) c.*892T>G (n.*892T>G) c.*175T>G (n.*175T>G) c.9279T>G (p.Asn3093Lys) c.1746T>G (p.Asn582Lys) n.1457T>G c.9338T>G (n.9338T>G) c.2208T>G c.352T>G (n.352T>G) c.287T>G c.9234T>G (p.Asn3078Lys) | |
| 13 | g.32394762T= | CA2082822787 | BRCA2 | c.9330T= (p.Asn3110=) c.*697T= (n.*697T=) c.8961T= (p.Asn2987=) c.*892T= (n.*892T=) c.*175T= (n.*175T=) c.9279T= (p.Asn3093=) c.1746T= (p.Asn582=) n.1457T= c.9338T= (n.9338T=) c.2208T= c.352T= (n.352T=) c.287T= c.9234T= (p.Asn3078=) | |
| 13 | g.32394762dup | CA658656359 | BRCA2 | c.9330dup (p.Glu3111Ter) c.*697dup (n.*697dup) c.8961dup (p.Glu2988Ter) c.*892dup (n.*892dup) c.*175dup (n.*175dup) c.9279dup (p.Glu3094Ter) c.1746dup (p.Glu583Ter) n.1457dup c.9338dup (n.9338dup) c.2208dup c.352dup (n.352dup) c.287dup c.9234dup (p.Glu3079Ter) | ClinVar dbSNP |
| 13 | g.32394762_32394767delinsTGAGGA | CA2082822768 | BRCA2 | c.9330_9335delinsTGAGGA (p.Asn3110=) c.*697_*702delinsTGAGGA (n.*697_*702delinsTGAGGA) c.8961_8966delinsTGAGGA (p.Asn2987=) c.*892_*897delinsTGAGGA (n.*892_*897delinsTGAGGA) c.*175_*180delinsTGAGGA (n.*175_*180delinsTGAGGA) c.9279_9284delinsTGAGGA (p.Asn3093=) c.1746_1751delinsTGAGGA (p.Asn582=) n.1457_1462delinsTGAGGA c.9338_9343delinsTGAGGA (n.9338_9343delinsTGAGGA) c.2208_2213delinsTGAGGA c.352_357delinsTGAGGA (n.352_357delinsTGAGGA) c.287_292delinsTGAGGA c.9234_9239delinsTGAGGA (p.Asn3078=) | |
| 13 | g.32394763G>A | CA10579825 | BRCA2 | c.9331G>A (p.Glu3111Lys) c.*698G>A (n.*698G>A) c.8962G>A (p.Glu2988Lys) c.*893G>A (n.*893G>A) c.*176G>A (n.*176G>A) c.9280G>A (p.Glu3094Lys) c.1747G>A (p.Glu583Lys) n.1458G>A c.9339G>A (n.9339G>A) c.2209G>A c.353G>A (n.353G>A) c.288G>A c.9235G>A (p.Glu3079Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32394763G>C | CA387761011 | BRCA2 | c.9331G>C (p.Glu3111Gln) c.*698G>C (n.*698G>C) c.8962G>C (p.Glu2988Gln) c.*893G>C (n.*893G>C) c.*176G>C (n.*176G>C) c.9280G>C (p.Glu3094Gln) c.1747G>C (p.Glu583Gln) n.1458G>C c.9339G>C (n.9339G>C) c.2209G>C c.353G>C (n.353G>C) c.288G>C c.9235G>C (p.Glu3079Gln) | dbSNP |
| 13 | g.32394763G= | CA2082822812 | BRCA2 | c.9331G= (p.Glu3111=) c.*698G= (n.*698G=) c.8962G= (p.Glu2988=) c.*893G= (n.*893G=) c.*176G= (n.*176G=) c.9280G= (p.Glu3094=) c.1747G= (p.Glu583=) n.1458G= c.9339G= (n.9339G=) c.2209G= c.353G= (n.353G=) c.288G= c.9235G= (p.Glu3079=) | |
| 13 | g.32394763G>T | CA026106 | BRCA2 | c.9331G>T (p.Glu3111Ter) c.*698G>T (n.*698G>T) c.8962G>T (p.Glu2988Ter) c.*893G>T (n.*893G>T) c.*176G>T (n.*176G>T) c.9280G>T (p.Glu3094Ter) c.1747G>T (p.Glu583Ter) n.1458G>T c.9339G>T (n.9339G>T) c.2209G>T c.353G>T (n.353G>T) c.288G>T c.9235G>T (p.Glu3079Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32394763_32394767del | CA2499222379 | BRCA2 | c.9331_9335del (p.Glu3111HisfsTer3) c.*698_*702del (n.*698_*702del) c.8962_8966del (p.Glu2988HisfsTer3) c.*893_*897del (n.*893_*897del) c.*176_*180del (n.*176_*180del) c.9280_9284del (p.Glu3094HisfsTer3) c.1747_1751del (p.Glu583HisfsTer3) n.1458_1462del c.9339_9343del (n.9339_9343del) c.2209_2213del c.353_357del (n.353_357del) c.288_292del c.9235_9239del (p.Glu3079HisfsTer3) | ClinVar dbSNP |
| 13 | g.32394763_32394767delinsCCT | CA10589558 | BRCA2 | c.9331_9335delinsCCT (p.Glu3111ProfsTer4) c.*698_*702delinsCCT (n.*698_*702delinsCCT) c.8962_8966delinsCCT (p.Glu2988ProfsTer4) c.*893_*897delinsCCT (n.*893_*897delinsCCT) c.*176_*180delinsCCT (n.*176_*180delinsCCT) c.9280_9284delinsCCT (p.Glu3094ProfsTer4) c.1747_1751delinsCCT (p.Glu583ProfsTer4) n.1458_1462delinsCCT c.9339_9343delinsCCT (n.9339_9343delinsCCT) c.2209_2213delinsCCT c.353_357delinsCCT (n.353_357delinsCCT) c.288_292delinsCCT c.9235_9239delinsCCT (p.Glu3079ProfsTer4) | ClinVar dbSNP |
| 13 | g.32394763_32394764insT | CA919242913 | BRCA2 | c.9331_9332insT (p.Glu3111ValfsTer5) c.*698_*699insT (n.*698_*699insT) c.8962_8963insT (p.Glu2988ValfsTer5) c.*893_*894insT (n.*893_*894insT) c.*176_*177insT (n.*176_*177insT) c.9280_9281insT (p.Glu3094ValfsTer5) c.1747_1748insT (p.Glu583ValfsTer5) n.1458_1459insT c.9339_9340insT (n.9339_9340insT) c.2209_2210insT c.353_354insT (n.353_354insT) c.288_289insT c.9235_9236insT (p.Glu3079ValfsTer5) | dbSNP |
| 13 | g.32394764A>C | CA387761015 | BRCA2 | c.9332A>C (p.Glu3111Ala) c.*699A>C (n.*699A>C) c.8963A>C (p.Glu2988Ala) c.*894A>C (n.*894A>C) c.*177A>C (n.*177A>C) c.9281A>C (p.Glu3094Ala) c.1748A>C (p.Glu583Ala) n.1459A>C c.9340A>C (n.9340A>C) c.2210A>C c.354A>C (n.354A>C) c.289A>C c.9236A>C (p.Glu3079Ala) | gnomAD v4 |
| 13 | g.32394764A>G | CA387761018 | BRCA2 | c.9332A>G (p.Glu3111Gly) c.*699A>G (n.*699A>G) c.8963A>G (p.Glu2988Gly) c.*894A>G (n.*894A>G) c.*177A>G (n.*177A>G) c.9281A>G (p.Glu3094Gly) c.1748A>G (p.Glu583Gly) n.1459A>G c.9340A>G (n.9340A>G) c.2210A>G c.354A>G (n.354A>G) c.289A>G c.9236A>G (p.Glu3079Gly) | dbSNP |
| 13 | g.32394764A>T | CA387761016 | BRCA2 | c.9332A>T (p.Glu3111Val) c.*699A>T (n.*699A>T) c.8963A>T (p.Glu2988Val) c.*894A>T (n.*894A>T) c.*177A>T (n.*177A>T) c.9281A>T (p.Glu3094Val) c.1748A>T (p.Glu583Val) n.1459A>T c.9340A>T (n.9340A>T) c.2210A>T c.354A>T (n.354A>T) c.289A>T c.9236A>T (p.Glu3079Val) | dbSNP |
| 13 | g.32394764_32394765insT | CA2695217932 | BRCA2 | c.9332_9333insT (p.Glu3111AspfsTer5) c.*699_*700insT (n.*699_*700insT) c.8963_8964insT (p.Glu2988AspfsTer5) c.*894_*895insT (n.*894_*895insT) c.*177_*178insT (n.*177_*178insT) c.9281_9282insT (p.Glu3094AspfsTer5) c.1748_1749insT (p.Glu583AspfsTer5) n.1459_1460insT c.9340_9341insT (n.9340_9341insT) c.2210_2211insT c.354_355insT (n.354_355insT) c.289_290insT c.9236_9237insT (p.Glu3079AspfsTer5) | |
| 13 | g.32394765G>A | CA10579826 | BRCA2 | c.9333G>A (p.Glu3111=) c.*700G>A (n.*700G>A) c.8964G>A (p.Glu2988=) c.*895G>A (n.*895G>A) c.*178G>A (n.*178G>A) c.9282G>A (p.Glu3094=) c.1749G>A (p.Glu583=) n.1460G>A c.9341G>A (n.9341G>A) c.2211G>A c.355G>A (n.355G>A) c.290G>A c.9237G>A (p.Glu3079=) | ClinVar dbSNP |
| 13 | g.32394765G>C | CA387761021 | BRCA2 | c.9333G>C (p.Glu3111Asp) c.*700G>C (n.*700G>C) c.8964G>C (p.Glu2988Asp) c.*895G>C (n.*895G>C) c.*178G>C (n.*178G>C) c.9282G>C (p.Glu3094Asp) c.1749G>C (p.Glu583Asp) n.1460G>C c.9341G>C (n.9341G>C) c.2211G>C c.355G>C (n.355G>C) c.290G>C c.9237G>C (p.Glu3079Asp) | dbSNP |
| 13 | g.32394765G= | CA2082822828 | BRCA2 | c.9333G= (p.Glu3111=) c.*700G= (n.*700G=) c.8964G= (p.Glu2988=) c.*895G= (n.*895G=) c.*178G= (n.*178G=) c.9282G= (p.Glu3094=) c.1749G= (p.Glu583=) n.1460G= c.9341G= (n.9341G=) c.2211G= c.355G= (n.355G=) c.290G= c.9237G= (p.Glu3079=) | |
| 13 | g.32394765G>T | CA387761022 | BRCA2 | c.9333G>T (p.Glu3111Asp) c.*700G>T (n.*700G>T) c.8964G>T (p.Glu2988Asp) c.*895G>T (n.*895G>T) c.*178G>T (n.*178G>T) c.9282G>T (p.Glu3094Asp) c.1749G>T (p.Glu583Asp) n.1460G>T c.9341G>T (n.9341G>T) c.2211G>T c.355G>T (n.355G>T) c.290G>T c.9237G>T (p.Glu3079Asp) | dbSNP |
| 13 | g.32394766G>A | CA6941377 | BRCA2 | c.9334G>A (p.Asp3112Asn) c.*701G>A (n.*701G>A) c.8965G>A (p.Asp2989Asn) c.*896G>A (n.*896G>A) c.*179G>A (n.*179G>A) c.9283G>A (p.Asp3095Asn) c.1750G>A (p.Asp584Asn) n.1461G>A c.9342G>A (n.9342G>A) c.2212G>A c.356G>A (n.356G>A) c.291G>A c.9238G>A (p.Asp3080Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32394766G>C | CA387761024 | BRCA2 | c.9334G>C (p.Asp3112His) c.*701G>C (n.*701G>C) c.8965G>C (p.Asp2989His) c.*896G>C (n.*896G>C) c.*179G>C (n.*179G>C) c.9283G>C (p.Asp3095His) c.1750G>C (p.Asp584His) n.1461G>C c.9342G>C (n.9342G>C) c.2212G>C c.356G>C (n.356G>C) c.291G>C c.9238G>C (p.Asp3080His) | dbSNP |
| 13 | g.32394766G= | CA2082822839 | BRCA2 | c.9334G= (p.Asp3112=) c.*701G= (n.*701G=) c.8965G= (p.Asp2989=) c.*896G= (n.*896G=) c.*179G= (n.*179G=) c.9283G= (p.Asp3095=) c.1750G= (p.Asp584=) n.1461G= c.9342G= (n.9342G=) c.2212G= c.356G= (n.356G=) c.291G= c.9238G= (p.Asp3080=) | |
| 13 | g.32394766G>T | CA387761026 | BRCA2 | c.9334G>T (p.Asp3112Tyr) c.*701G>T (n.*701G>T) c.8965G>T (p.Asp2989Tyr) c.*896G>T (n.*896G>T) c.*179G>T (n.*179G>T) c.9283G>T (p.Asp3095Tyr) c.1750G>T (p.Asp584Tyr) n.1461G>T c.9342G>T (n.9342G>T) c.2212G>T c.356G>T (n.356G>T) c.291G>T c.9238G>T (p.Asp3080Tyr) | dbSNP |