| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32357847_32357906dup | CA2580614662 | BRCA2 | c.7723_7782dup (p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.7354_7413dup (p.Lys2471_Ala2472insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.190_249dup (p.Lys83_Ala84insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.288_347dup n.7723_7782dup c.7627_7686dup (p.Lys2562_Ala2563insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) | ClinVar |
| 13 | g.32357858_32357868del | CA2580087355 | BRCA2 | c.7734_7744del (p.Ile2579Ter) c.7365_7375del (p.Ile2456Ter) c.201_211del (p.Ile68Ter) c.299_309del n.7734_7744del c.7638_7648del (p.Ile2547Ter) | ClinVar |
| 13 | g.32357857_32357863delinsGAATACA | CA2082818572 | BRCA2 | c.7733_7739delinsGAATACA (p.Gly2578=) c.7364_7370delinsGAATACA (p.Gly2455=) c.200_206delinsGAATACA (p.Gly67=) c.298_304delinsGAATACA n.7733_7739delinsGAATACA c.7637_7643delinsGAATACA (p.Gly2546=) | |
| 13 | g.32357858_32357863delinsCTGATGGTG | CA658823755 | BRCA2 | c.7734_7739delinsCTGATGGTG (p.Gly2579Ter) c.7365_7370delinsCTGATGGTG (p.Gly2456Ter) c.201_206delinsCTGATGGTG (p.Gly68Ter) c.299_304delinsCTGATGGTG n.7734_7739delinsCTGATGGTG c.7638_7643delinsCTGATGGTG (p.Gly2547Ter) | ClinVar dbSNP |
| 13 | g.32357862C>A | CA387745610 | BRCA2 | c.7738C>A (p.Gln2580Lys) c.7369C>A (p.Gln2457Lys) c.205C>A (p.Gln69Lys) c.303C>A n.7738C>A c.7642C>A (p.Gln2548Lys) | ClinVar COSMIC COSMIC |
| 13 | g.32357862C= | CA2082818595 | BRCA2 | c.7738C= (p.Gln2580=) c.7369C= (p.Gln2457=) c.205C= (p.Gln69=) c.303C= n.7738C= c.7642C= (p.Gln2548=) | |
| 13 | g.32357862C>G | CA387745614 | BRCA2 | c.7738C>G (p.Gln2580Glu) c.7369C>G (p.Gln2457Glu) c.205C>G (p.Gln69Glu) c.303C>G n.7738C>G c.7642C>G (p.Gln2548Glu) | |
| 13 | g.32357862C>T | CA025250 | BRCA2 | c.7738C>T (p.Gln2580Ter) c.7369C>T (p.Gln2457Ter) c.205C>T (p.Gln69Ter) c.303C>T n.7738C>T c.7642C>T (p.Gln2548Ter) | ClinVar dbSNP |
| 13 | g.32357863A= | CA2082818609 | BRCA2 | c.7739A= (p.Gln2580=) c.7370A= (p.Gln2457=) c.206A= (p.Gln69=) c.304A= n.7739A= c.7643A= (p.Gln2548=) | |
| 13 | g.32357863A>C | CA387745617 | BRCA2 | c.7739A>C (p.Gln2580Pro) c.7370A>C (p.Gln2457Pro) c.206A>C (p.Gln69Pro) c.304A>C n.7739A>C c.7643A>C (p.Gln2548Pro) | |
| 13 | g.32357863A>G | CA16619768 | BRCA2 | c.7739A>G (p.Gln2580Arg) c.7370A>G (p.Gln2457Arg) c.206A>G (p.Gln69Arg) c.304A>G n.7739A>G c.7643A>G (p.Gln2548Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357863A>T | CA387745619 | BRCA2 | c.7739A>T (p.Gln2580Leu) c.7370A>T (p.Gln2457Leu) c.206A>T (p.Gln69Leu) c.304A>T n.7739A>T c.7643A>T (p.Gln2548Leu) | dbSNP |
| 13 | g.32357863dup | CA915946876 | BRCA2 | c.7739dup (p.Leu2581ValfsTer3) c.7370dup (p.Leu2458ValfsTer3) c.206dup (p.Leu70ValfsTer3) c.304dup n.7739dup c.7643dup (p.Leu2549ValfsTer3) | ClinVar dbSNP |
| 13 | g.32357864G>A | CA483439226 | BRCA2 | c.7740G>A (p.Gln2580=) c.7371G>A (p.Gln2457=) c.207G>A (p.Gln69=) c.305G>A n.7740G>A c.7644G>A (p.Gln2548=) | ClinVar dbSNP |
| 13 | g.32357864G>C | CA387745621 | BRCA2 | c.7740G>C (p.Gln2580His) c.7371G>C (p.Gln2457His) c.207G>C (p.Gln69His) c.305G>C n.7740G>C c.7644G>C (p.Gln2548His) | dbSNP |
| 13 | g.32357864G= | CA2082818622 | BRCA2 | c.7740G= (p.Gln2580=) c.7371G= (p.Gln2457=) c.207G= (p.Gln69=) c.305G= n.7740G= c.7644G= (p.Gln2548=) | |
| 13 | g.32357864G>T | CA387745623 | BRCA2 | c.7740G>T (p.Gln2580His) c.7371G>T (p.Gln2457His) c.207G>T (p.Gln69His) c.305G>T n.7740G>T c.7644G>T (p.Gln2548His) | ClinVar dbSNP |
| 13 | g.32357865T>A | CA387745626 | BRCA2 | c.7741T>A (p.Leu2581Met) c.7372T>A (p.Leu2458Met) c.208T>A (p.Leu70Met) c.306T>A n.7741T>A c.7645T>A (p.Leu2549Met) | dbSNP |
| 13 | g.32357865T>C | CA483439227 | BRCA2 | c.7741T>C (p.Leu2581=) c.7372T>C (p.Leu2458=) c.208T>C (p.Leu70=) c.306T>C n.7741T>C c.7645T>C (p.Leu2549=) | gnomAD v4 |
| 13 | g.32357865T>G | CA387745636 | BRCA2 | c.7741T>G (p.Leu2581Val) c.7372T>G (p.Leu2458Val) c.208T>G (p.Leu70Val) c.306T>G n.7741T>G c.7645T>G (p.Leu2549Val) | ClinVar |
| 13 | g.32357865_32357872delinsTTGGCTGA | CA2082818626 | BRCA2 | c.7741_7748delinsTTGGCTGA (p.Leu2581=) c.7372_7379delinsTTGGCTGA (p.Leu2458=) c.208_215delinsTTGGCTGA (p.Leu70=) c.306_313delinsTTGGCTGA n.7741_7748delinsTTGGCTGA c.7645_7652delinsTTGGCTGA (p.Leu2549=) | |
| 13 | g.32357866T>A | CA387745641 | BRCA2 | c.7742T>A (p.Leu2581Ter) c.7373T>A (p.Leu2458Ter) c.209T>A (p.Leu70Ter) c.307T>A n.7742T>A c.7646T>A (p.Leu2549Ter) | |
| 13 | g.32357866T>C | CA387745650 | BRCA2 | c.7742T>C (p.Leu2581Ser) c.7373T>C (p.Leu2458Ser) c.209T>C (p.Leu70Ser) c.307T>C n.7742T>C c.7646T>C (p.Leu2549Ser) | dbSNP |
| 13 | g.32357866T>G | CA025251 | BRCA2 | c.7742T>G (p.Leu2581Trp) c.7373T>G (p.Leu2458Trp) c.209T>G (p.Leu70Trp) c.307T>G n.7742T>G c.7646T>G (p.Leu2549Trp) | ClinVar dbSNP |
| 13 | g.32357866T= | CA2082818635 | BRCA2 | c.7742T= (p.Leu2581=) c.7373T= (p.Leu2458=) c.209T= (p.Leu70=) c.307T= n.7742T= c.7646T= (p.Leu2549=) | |
| 13 | g.32357866_32357867delinsTG | CA2082818658 | BRCA2 | c.7742_7743delinsTG (p.Leu2581=) c.7373_7374delinsTG (p.Leu2458=) c.209_210delinsTG (p.Leu70=) c.307_308delinsTG n.7742_7743delinsTG c.7646_7647delinsTG (p.Leu2549=) | |
| 13 | g.32357869_32357875dup | CA2499222305 | BRCA2 | c.7745_7751dup (p.Gly2585Ter) c.7376_7382dup (p.Gly2462Ter) c.212_218dup (p.Gly74Ter) c.310_316dup n.7745_7751dup c.7649_7655dup (p.Gly2553Ter) | ClinVar dbSNP |
| 13 | g.32357869_32357875del | CA915946877 | BRCA2 | c.7745_7751del (p.Ala2582ValfsTer?) c.7376_7382del (p.Ala2459ValfsTer?) c.212_218del (p.Ala71ValfsTer?) c.7745_7751del (p.Ala2582ValfsTer25) c.310_316del n.7745_7751del c.7649_7655del (p.Ala2550ValfsTer?) | ClinVar dbSNP |
| 13 | g.32357867G>A | CA483439230 | BRCA2 | c.7743G>A (p.Leu2581=) c.7374G>A (p.Leu2458=) c.210G>A (p.Leu70=) c.308G>A n.7743G>A c.7647G>A (p.Leu2549=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32357867G>C | CA387745658 | BRCA2 | c.7743G>C (p.Leu2581Phe) c.7374G>C (p.Leu2458Phe) c.210G>C (p.Leu70Phe) c.308G>C n.7743G>C c.7647G>C (p.Leu2549Phe) | |
| 13 | g.32357867G= | CA2082818669 | BRCA2 | c.7743G= (p.Leu2581=) c.7374G= (p.Leu2458=) c.210G= (p.Leu70=) c.308G= n.7743G= c.7647G= (p.Leu2549=) | |
| 13 | g.32357867G>T | CA387745660 | BRCA2 | c.7743G>T (p.Leu2581Phe) c.7374G>T (p.Leu2458Phe) c.210G>T (p.Leu70Phe) c.308G>T n.7743G>T c.7647G>T (p.Leu2549Phe) | dbSNP |
| 13 | g.32357868del | CA10589448 | BRCA2 | c.7744del (p.Ala2582LeufsTer?) c.7375del (p.Ala2459LeufsTer?) c.211del (p.Ala71LeufsTer?) c.7744del (p.Ala2582LeufsTer27) c.309del n.7744del c.7648del (p.Ala2550LeufsTer?) | ClinVar dbSNP |
| 13 | g.32357868G>A | CA10579751 | BRCA2 | c.7744G>A (p.Ala2582Thr) c.7375G>A (p.Ala2459Thr) c.211G>A (p.Ala71Thr) c.309G>A n.7744G>A c.7648G>A (p.Ala2550Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357868G>C | CA387745661 | BRCA2 | c.7744G>C (p.Ala2582Pro) c.7375G>C (p.Ala2459Pro) c.211G>C (p.Ala71Pro) c.309G>C n.7744G>C c.7648G>C (p.Ala2550Pro) | dbSNP gnomAD v4 |
| 13 | g.32357868G= | CA2082818677 | BRCA2 | c.7744G= (p.Ala2582=) c.7375G= (p.Ala2459=) c.211G= (p.Ala71=) c.309G= n.7744G= c.7648G= (p.Ala2550=) | |
| 13 | g.32357868G>T | CA387745664 | BRCA2 | c.7744G>T (p.Ala2582Ser) c.7375G>T (p.Ala2459Ser) c.211G>T (p.Ala71Ser) c.309G>T n.7744G>T c.7648G>T (p.Ala2550Ser) | dbSNP |
| 13 | g.32357869del | CA2697551788 | BRCA2 | c.7745del (p.Ala2582ValfsTer?) c.7376del (p.Ala2459ValfsTer?) c.212del (p.Ala71ValfsTer?) c.7745del (p.Ala2582ValfsTer27) c.310del n.7745del c.7649del (p.Ala2550ValfsTer?) | ClinVar |
| 13 | g.32357869C>A | CA387745676 | BRCA2 | c.7745C>A (p.Ala2582Asp) c.7376C>A (p.Ala2459Asp) c.212C>A (p.Ala71Asp) c.310C>A n.7745C>A c.7649C>A (p.Ala2550Asp) | dbSNP |
| 13 | g.32357869C>G | CA387745679 | BRCA2 | c.7745C>G (p.Ala2582Gly) c.7376C>G (p.Ala2459Gly) c.212C>G (p.Ala71Gly) c.310C>G n.7745C>G c.7649C>G (p.Ala2550Gly) | dbSNP |
| 13 | g.32357869C>T | CA387745686 | BRCA2 | c.7745C>T (p.Ala2582Val) c.7376C>T (p.Ala2459Val) c.212C>T (p.Ala71Val) c.310C>T n.7745C>T c.7649C>T (p.Ala2550Val) | dbSNP |
| 13 | g.32357870T>A | CA483439233 | BRCA2 | c.7746T>A (p.Ala2582=) c.7377T>A (p.Ala2459=) c.213T>A (p.Ala71=) c.311T>A n.7746T>A c.7650T>A (p.Ala2550=) | |
| 13 | g.32357870T>C | CA483439234 | BRCA2 | c.7746T>C (p.Ala2582=) c.7377T>C (p.Ala2459=) c.213T>C (p.Ala71=) c.311T>C n.7746T>C c.7650T>C (p.Ala2550=) | COSMIC COSMIC |
| 13 | g.32357870T>G | CA483439235 | BRCA2 | c.7746T>G (p.Ala2582=) c.7377T>G (p.Ala2459=) c.213T>G (p.Ala71=) c.311T>G n.7746T>G c.7650T>G (p.Ala2550=) | |
| 13 | g.32357871G>A | CA387745690 | BRCA2 | c.7747G>A (p.Asp2583Asn) c.7378G>A (p.Asp2460Asn) c.214G>A (p.Asp72Asn) c.312G>A n.7747G>A c.7651G>A (p.Asp2551Asn) | dbSNP gnomAD v4 |
| 13 | g.32357871G>C | CA387745693 | BRCA2 | c.7747G>C (p.Asp2583His) c.7378G>C (p.Asp2460His) c.214G>C (p.Asp72His) c.312G>C n.7747G>C c.7651G>C (p.Asp2551His) | ClinVar dbSNP |
| 13 | g.32357871G= | CA2082818681 | BRCA2 | c.7747G= (p.Asp2583=) c.7378G= (p.Asp2460=) c.214G= (p.Asp72=) c.312G= n.7747G= c.7651G= (p.Asp2551=) | |
| 13 | g.32357871G>T | CA387745698 | BRCA2 | c.7747G>T (p.Asp2583Tyr) c.7378G>T (p.Asp2460Tyr) c.214G>T (p.Asp72Tyr) c.312G>T n.7747G>T c.7651G>T (p.Asp2551Tyr) | |
| 13 | g.32357876_32357882del | CA2727929030 | BRCA2 | c.7752_7758del (p.Gly2585SerfsTer?) c.7383_7389del (p.Gly2462SerfsTer?) c.219_225del (p.Gly74SerfsTer?) c.7752_7758del (p.Gly2585SerfsTer22) c.317_323del n.7752_7758del c.7656_7662del (p.Gly2553SerfsTer?) | dbSNP |
| 13 | g.32357872A= | CA2082818686 | BRCA2 | c.7748A= (p.Asp2583=) c.7379A= (p.Asp2460=) c.215A= (p.Asp72=) c.313A= n.7748A= c.7652A= (p.Asp2551=) |