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.32354979G>A | CA6941061 | BRCA2 | c.7126G>A (p.Ala2376Thr) c.6757G>A (p.Ala2253Thr) n.7126G>A c.7030G>A (p.Ala2344Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32354979G>C | CA024890 | BRCA2 | c.7126G>C (p.Ala2376Pro) c.6757G>C (p.Ala2253Pro) n.7126G>C c.7030G>C (p.Ala2344Pro) | ClinVar dbSNP |
13 | g.32354979G= | CA2082809102 | BRCA2 | c.7126G= (p.Ala2376=) c.6757G= (p.Ala2253=) n.7126G= c.7030G= (p.Ala2344=) | |
13 | g.32354979G>T | CA387738774 | BRCA2 | c.7126G>T (p.Ala2376Ser) c.6757G>T (p.Ala2253Ser) n.7126G>T c.7030G>T (p.Ala2344Ser) | dbSNP |
13 | g.32354979_32354980del | CA2499222272 | BRCA2 | c.7126_7127del (p.Ala2376SerfsTer15) c.6757_6758del (p.Ala2253SerfsTer15) n.7126_7127del c.7030_7031del (p.Ala2344SerfsTer15) | ClinVar dbSNP |
13 | g.32354980C>A | CA387738816 | BRCA2 | c.7127C>A (p.Ala2376Glu) c.6758C>A (p.Ala2253Glu) n.7127C>A c.7031C>A (p.Ala2344Glu) | dbSNP |
13 | g.32354980C= | CA2082809111 | BRCA2 | c.7127C= (p.Ala2376=) c.6758C= (p.Ala2253=) n.7127C= c.7031C= (p.Ala2344=) | |
13 | g.32354980C>G | CA387738821 | BRCA2 | c.7127C>G (p.Ala2376Gly) c.6758C>G (p.Ala2253Gly) n.7127C>G c.7031C>G (p.Ala2344Gly) | dbSNP |
13 | g.32354980C>T | CA387738828 | BRCA2 | c.7127C>T (p.Ala2376Val) c.6758C>T (p.Ala2253Val) n.7127C>T c.7031C>T (p.Ala2344Val) | ClinVar dbSNP |
13 | g.32354981del | CA2739277507 | BRCA2 | c.7128del (p.Val2377PhefsTer17) c.6759del (p.Val2254PhefsTer17) n.7128del c.7032del (p.Val2345PhefsTer17) | ClinVar |
13 | g.32354981A>C | CA483439436 | BRCA2 | c.7128A>C (p.Ala2376=) c.6759A>C (p.Ala2253=) n.7128A>C c.7032A>C (p.Ala2344=) | |
13 | g.32354981A>G | CA483439435 | BRCA2 | c.7128A>G (p.Ala2376=) c.6759A>G (p.Ala2253=) n.7128A>G c.7032A>G (p.Ala2344=) | dbSNP gnomAD v4 |
13 | g.32354981A>T | CA483439434 | BRCA2 | c.7128A>T (p.Ala2376=) c.6759A>T (p.Ala2253=) n.7128A>T c.7032A>T (p.Ala2344=) | dbSNP |
13 | g.32354982G>A | CA387738831 | BRCA2 | c.7129G>A (p.Val2377Ile) c.6760G>A (p.Val2254Ile) n.7129G>A c.7033G>A (p.Val2345Ile) | ClinVar dbSNP |
13 | g.32354982G>C | CA387738834 | BRCA2 | c.7129G>C (p.Val2377Leu) c.6760G>C (p.Val2254Leu) n.7129G>C c.7033G>C (p.Val2345Leu) | dbSNP |
13 | g.32354982G>T | CA387738836 | BRCA2 | c.7129G>T (p.Val2377Phe) c.6760G>T (p.Val2254Phe) n.7129G>T c.7033G>T (p.Val2345Phe) | |
13 | g.32354983T>A | CA387738847 | BRCA2 | c.7130T>A (p.Val2377Asp) c.6761T>A (p.Val2254Asp) n.7130T>A c.7034T>A (p.Val2345Asp) | dbSNP |
13 | g.32354983T>C | CA387738845 | BRCA2 | c.7130T>C (p.Val2377Ala) c.6761T>C (p.Val2254Ala) n.7130T>C c.7034T>C (p.Val2345Ala) | |
13 | g.32354983T>G | CA387738846 | BRCA2 | c.7130T>G (p.Val2377Gly) c.6761T>G (p.Val2254Gly) n.7130T>G c.7034T>G (p.Val2345Gly) | |
13 | g.32354985del | CA2580087397 | BRCA2 | c.7132del (p.Ser2378GlnfsTer16) c.6763del (p.Ser2255GlnfsTer16) n.7132del c.7036del (p.Ser2346GlnfsTer16) | ClinVar |
13 | g.32354984T>A | CA483439440 | BRCA2 | c.7131T>A (p.Val2377=) c.6762T>A (p.Val2254=) n.7131T>A c.7035T>A (p.Val2345=) | dbSNP |
13 | g.32354984T>C | CA483439443 | BRCA2 | c.7131T>C (p.Val2377=) c.6762T>C (p.Val2254=) n.7131T>C c.7035T>C (p.Val2345=) | ClinVar dbSNP |
13 | g.32354984T>G | CA483439442 | BRCA2 | c.7131T>G (p.Val2377=) c.6762T>G (p.Val2254=) n.7131T>G c.7035T>G (p.Val2345=) | |
13 | g.32354984T= | CA2082809120 | BRCA2 | c.7131T= (p.Val2377=) c.6762T= (p.Val2254=) n.7131T= c.7035T= (p.Val2345=) | |
13 | g.32354985T>A | CA387738849 | BRCA2 | c.7132T>A (p.Ser2378Thr) c.6763T>A (p.Ser2255Thr) n.7132T>A c.7036T>A (p.Ser2346Thr) | |
13 | g.32354985T>C | CA387738852 | BRCA2 | c.7132T>C (p.Ser2378Pro) c.6763T>C (p.Ser2255Pro) n.7132T>C c.7036T>C (p.Ser2346Pro) | dbSNP |
13 | g.32354985T>G | CA387738862 | BRCA2 | c.7132T>G (p.Ser2378Ala) c.6763T>G (p.Ser2255Ala) n.7132T>G c.7036T>G (p.Ser2346Ala) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32354985T= | CA2082809143 | BRCA2 | c.7132T= (p.Ser2378=) c.6763T= (p.Ser2255=) n.7132T= c.7036T= (p.Ser2346=) | |
13 | g.32354986C>A | CA387738866 | BRCA2 | c.7133C>A (p.Ser2378Ter) c.6764C>A (p.Ser2255Ter) n.7133C>A c.7037C>A (p.Ser2346Ter) | ClinVar |
13 | g.32354986C= | CA2082809151 | BRCA2 | c.7133C= (p.Ser2378=) c.6764C= (p.Ser2255=) n.7133C= c.7037C= (p.Ser2346=) | |
13 | g.32354986C>G | CA024895 | BRCA2 | c.7133C>G (p.Ser2378Ter) c.6764C>G (p.Ser2255Ter) n.7133C>G c.7037C>G (p.Ser2346Ter) | ClinVar dbSNP |
13 | g.32354986C>T | CA387738874 | BRCA2 | c.7133C>T (p.Ser2378Leu) c.6764C>T (p.Ser2255Leu) n.7133C>T c.7037C>T (p.Ser2346Leu) | dbSNP |
13 | g.32354987A= | CA2082809169 | BRCA2 | c.7134A= (p.Ser2378=) c.6765A= (p.Ser2255=) n.7134A= c.7038A= (p.Ser2346=) | |
13 | g.32354987A>C | CA483439446 | BRCA2 | c.7134A>C (p.Ser2378=) c.6765A>C (p.Ser2255=) n.7134A>C c.7038A>C (p.Ser2346=) | dbSNP |
13 | g.32354987A>G | CA483439448 | BRCA2 | c.7134A>G (p.Ser2378=) c.6765A>G (p.Ser2255=) n.7134A>G c.7038A>G (p.Ser2346=) | ClinVar dbSNP |
13 | g.32354987A>T | CA483439449 | BRCA2 | c.7134A>T (p.Ser2378=) c.6765A>T (p.Ser2255=) n.7134A>T c.7038A>T (p.Ser2346=) | dbSNP |
13 | g.32354988G>A | CA387738886 | BRCA2 | c.7135G>A (p.Gly2379Arg) c.6766G>A (p.Gly2256Arg) n.7135G>A c.7039G>A (p.Gly2347Arg) | ClinVar dbSNP |
13 | g.32354988G>C | CA387738893 | BRCA2 | c.7135G>C (p.Gly2379Arg) c.6766G>C (p.Gly2256Arg) n.7135G>C c.7039G>C (p.Gly2347Arg) | dbSNP |
13 | g.32354988G>T | CA387738881 | BRCA2 | c.7135G>T (p.Gly2379Ter) c.6766G>T (p.Gly2256Ter) n.7135G>T c.7039G>T (p.Gly2347Ter) | dbSNP |
13 | g.32354989G>A | CA387738906 | BRCA2 | c.7136G>A (p.Gly2379Glu) c.6767G>A (p.Gly2256Glu) n.7136G>A c.7040G>A (p.Gly2347Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32354989G>C | CA387738904 | BRCA2 | c.7136G>C (p.Gly2379Ala) c.6767G>C (p.Gly2256Ala) n.7136G>C c.7040G>C (p.Gly2347Ala) | dbSNP |
13 | g.32354989G= | CA2082809182 | BRCA2 | c.7136G= (p.Gly2379=) c.6767G= (p.Gly2256=) n.7136G= c.7040G= (p.Gly2347=) | |
13 | g.32354989G>T | CA387738908 | BRCA2 | c.7136G>T (p.Gly2379Val) c.6767G>T (p.Gly2256Val) n.7136G>T c.7040G>T (p.Gly2347Val) | ClinVar dbSNP |
13 | g.32354990A= | CA2082809190 | BRCA2 | c.7137A= (p.Gly2379=) c.6768A= (p.Gly2256=) n.7137A= c.7041A= (p.Gly2347=) | |
13 | g.32354990A>C | CA483439452 | BRCA2 | c.7137A>C (p.Gly2379=) c.6768A>C (p.Gly2256=) n.7137A>C c.7041A>C (p.Gly2347=) | dbSNP |
13 | g.32354990A>G | CA024900 | BRCA2 | c.7137A>G (p.Gly2379=) c.6768A>G (p.Gly2256=) n.7137A>G c.7041A>G (p.Gly2347=) | ClinVar dbSNP gnomAD v4 |
13 | g.32354990A>T | CA483439453 | BRCA2 | c.7137A>T (p.Gly2379=) c.6768A>T (p.Gly2256=) n.7137A>T c.7041A>T (p.Gly2347=) | ClinVar dbSNP |
13 | g.32354991C>A | CA387738912 | BRCA2 | c.7138C>A (p.His2380Asn) c.6769C>A (p.His2257Asn) n.7138C>A c.7042C>A (p.His2348Asn) | |
13 | g.32354991C= | CA2082809198 | BRCA2 | c.7138C= (p.His2380=) c.6769C= (p.His2257=) n.7138C= c.7042C= (p.His2348=) |