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.32355148_32355151del | CA2697551761 | BRCA2 | c.7295_7298del (p.Arg2432LysfsTer?) c.6926_6929del (p.Arg2309LysfsTer?) n.7295_7298del c.7199_7202del (p.Arg2400LysfsTer?) | ClinVar |
13 | g.32355150C>A | CA387740856 | BRCA2 | c.7297C>A (p.Gln2433Lys) c.6928C>A (p.Gln2310Lys) n.7297C>A c.7201C>A (p.Gln2401Lys) | ClinVar dbSNP |
13 | g.32355150C>G | CA387740859 | BRCA2 | c.7297C>G (p.Gln2433Glu) c.6928C>G (p.Gln2310Glu) n.7297C>G c.7201C>G (p.Gln2401Glu) | |
13 | g.32355150C>T | CA387740866 | BRCA2 | c.7297C>T (p.Gln2433Ter) c.6928C>T (p.Gln2310Ter) n.7297C>T c.7201C>T (p.Gln2401Ter) | ClinVar |
13 | g.32355150_32355151delinsCA | CA2082810655 | BRCA2 | c.7297_7298delinsCA (p.Gln2433=) c.6928_6929delinsCA (p.Gln2310=) n.7297_7298delinsCA c.7201_7202delinsCA (p.Gln2401=) | |
13 | g.32355151A= | CA2082810668 | BRCA2 | c.7298A= (p.Gln2433=) c.6929A= (p.Gln2310=) n.7298A= c.7202A= (p.Gln2401=) | |
13 | g.32355151A>C | CA387740869 | BRCA2 | c.7298A>C (p.Gln2433Pro) c.6929A>C (p.Gln2310Pro) n.7298A>C c.7202A>C (p.Gln2401Pro) | |
13 | g.32355151A>G | CA387740871 | BRCA2 | c.7298A>G (p.Gln2433Arg) c.6929A>G (p.Gln2310Arg) n.7298A>G c.7202A>G (p.Gln2401Arg) | ClinVar dbSNP |
13 | g.32355151A>T | CA387740873 | BRCA2 | c.7298A>T (p.Gln2433Leu) c.6929A>T (p.Gln2310Leu) n.7298A>T c.7202A>T (p.Gln2401Leu) | dbSNP |
13 | g.32355154del | CA025019 | BRCA2 | c.7301del (p.Lys2434SerfsTer?) c.6932del (p.Lys2311SerfsTer?) n.7301del c.7205del (p.Lys2402SerfsTer?) | ClinVar dbSNP |
13 | g.32355153_32355154del | CA2580617977 | BRCA2 | c.7300_7301del (p.Lys2434AlafsTer4) c.6931_6932del (p.Lys2311AlafsTer4) n.7300_7301del c.7204_7205del (p.Lys2402AlafsTer4) | ClinVar |
13 | g.32355152A= | CA2082810684 | BRCA2 | c.7299A= (p.Gln2433=) c.6930A= (p.Gln2310=) n.7299A= c.7203A= (p.Gln2401=) | |
13 | g.32355152A>C | CA387740882 | BRCA2 | c.7299A>C (p.Gln2433His) c.6930A>C (p.Gln2310His) n.7299A>C c.7203A>C (p.Gln2401His) | |
13 | g.32355152A>G | CA025016 | BRCA2 | c.7299A>G (p.Gln2433=) c.6930A>G (p.Gln2310=) n.7299A>G c.7203A>G (p.Gln2401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32355152A>T | CA387740890 | BRCA2 | c.7299A>T (p.Gln2433His) c.6930A>T (p.Gln2310His) n.7299A>T c.7203A>T (p.Gln2401His) | dbSNP |
13 | g.32355153A>C | CA387740906 | BRCA2 | c.7300A>C (p.Lys2434Gln) c.6931A>C (p.Lys2311Gln) n.7300A>C c.7204A>C (p.Lys2402Gln) | |
13 | g.32355153A>G | CA387740903 | BRCA2 | c.7300A>G (p.Lys2434Glu) c.6931A>G (p.Lys2311Glu) n.7300A>G c.7204A>G (p.Lys2402Glu) | dbSNP |
13 | g.32355153A>T | CA387740900 | BRCA2 | c.7300A>T (p.Lys2434Ter) c.6931A>T (p.Lys2311Ter) n.7300A>T c.7204A>T (p.Lys2402Ter) | dbSNP |
13 | g.32355154A= | CA2082810694 | BRCA2 | c.7301A= (p.Lys2434=) c.6932A= (p.Lys2311=) n.7301A= c.7205A= (p.Lys2402=) | |
13 | g.32355154A>C | CA025018 | BRCA2 | c.7301A>C (p.Lys2434Thr) c.6932A>C (p.Lys2311Thr) n.7301A>C c.7205A>C (p.Lys2402Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32355154A>G | CA387740911 | BRCA2 | c.7301A>G (p.Lys2434Arg) c.6932A>G (p.Lys2311Arg) n.7301A>G c.7205A>G (p.Lys2402Arg) | ClinVar dbSNP |
13 | g.32355154A>T | CA387740913 | BRCA2 | c.7301A>T (p.Lys2434Met) c.6932A>T (p.Lys2311Met) n.7301A>T c.7205A>T (p.Lys2402Met) | dbSNP |
13 | g.32355155G>A | CA483439430 | BRCA2 | c.7302G>A (p.Lys2434=) c.6933G>A (p.Lys2311=) n.7302G>A c.7206G>A (p.Lys2402=) | ClinVar dbSNP |
13 | g.32355155G>C | CA387740916 | BRCA2 | c.7302G>C (p.Lys2434Asn) c.6933G>C (p.Lys2311Asn) n.7302G>C c.7206G>C (p.Lys2402Asn) | dbSNP |
13 | g.32355155G>T | CA387740922 | BRCA2 | c.7302G>T (p.Lys2434Asn) c.6933G>T (p.Lys2311Asn) n.7302G>T c.7206G>T (p.Lys2402Asn) | |
13 | g.32355156C>A | CA387740925 | BRCA2 | c.7303C>A (p.Gln2435Lys) c.6934C>A (p.Gln2312Lys) n.7303C>A c.7207C>A (p.Gln2403Lys) | dbSNP |
13 | g.32355156C= | CA2082810710 | BRCA2 | c.7303C= (p.Gln2435=) c.6934C= (p.Gln2312=) n.7303C= c.7207C= (p.Gln2403=) | |
13 | g.32355156C>G | CA6941077 | BRCA2 | c.7303C>G (p.Gln2435Glu) c.6934C>G (p.Gln2312Glu) n.7303C>G c.7207C>G (p.Gln2403Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32355156C>T | CA025020 | BRCA2 | c.7303C>T (p.Gln2435Ter) c.6934C>T (p.Gln2312Ter) n.7303C>T c.7207C>T (p.Gln2403Ter) | ClinVar dbSNP |
13 | g.32355157A= | CA2082810722 | BRCA2 | c.7304A= (p.Gln2435=) c.6935A= (p.Gln2312=) n.7304A= c.7208A= (p.Gln2403=) | |
13 | g.32355157A>C | CA387740935 | BRCA2 | c.7304A>C (p.Gln2435Pro) c.6935A>C (p.Gln2312Pro) n.7304A>C c.7208A>C (p.Gln2403Pro) | |
13 | g.32355157A>G | CA025022 | BRCA2 | c.7304A>G (p.Gln2435Arg) c.6935A>G (p.Gln2312Arg) n.7304A>G c.7208A>G (p.Gln2403Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32355157A>T | CA387740954 | BRCA2 | c.7304A>T (p.Gln2435Leu) c.6935A>T (p.Gln2312Leu) n.7304A>T c.7208A>T (p.Gln2403Leu) | dbSNP |
13 | g.32355160del | CA658761172 | BRCA2 | c.7307del (p.Asn2436ThrfsTer?) c.6938del (p.Asn2313ThrfsTer?) n.7307del c.7211del (p.Asn2404ThrfsTer?) | |
13 | g.32355158A>C | CA387740959 | BRCA2 | c.7305A>C (p.Gln2435His) c.6936A>C (p.Gln2312His) n.7305A>C c.7209A>C (p.Gln2403His) | dbSNP |
13 | g.32355158A>G | CA483439432 | BRCA2 | c.7305A>G (p.Gln2435=) c.6936A>G (p.Gln2312=) n.7305A>G c.7209A>G (p.Gln2403=) | ClinVar gnomAD v4 |
13 | g.32355158A>T | CA387740965 | BRCA2 | c.7305A>T (p.Gln2435His) c.6936A>T (p.Gln2312His) n.7305A>T c.7209A>T (p.Gln2403His) | dbSNP |
13 | g.32355159A= | CA2082810730 | BRCA2 | c.7306A= (p.Asn2436=) c.6937A= (p.Asn2313=) n.7306A= c.7210A= (p.Asn2404=) | |
13 | g.32355159A>C | CA387740977 | BRCA2 | c.7306A>C (p.Asn2436His) c.6937A>C (p.Asn2313His) n.7306A>C c.7210A>C (p.Asn2404His) | ClinVar dbSNP |
13 | g.32355159A>G | CA387740981 | BRCA2 | c.7306A>G (p.Asn2436Asp) c.6937A>G (p.Asn2313Asp) n.7306A>G c.7210A>G (p.Asn2404Asp) | |
13 | g.32355159A>T | CA387740969 | BRCA2 | c.7306A>T (p.Asn2436Tyr) c.6937A>T (p.Asn2313Tyr) n.7306A>T c.7210A>T (p.Asn2404Tyr) | dbSNP |
13 | g.32355160A= | CA2082810736 | BRCA2 | c.7307A= (p.Asn2436=) c.6938A= (p.Asn2313=) n.7307A= c.7211A= (p.Asn2404=) | |
13 | g.32355160A>C | CA387740998 | BRCA2 | c.7307A>C (p.Asn2436Thr) c.6938A>C (p.Asn2313Thr) n.7307A>C c.7211A>C (p.Asn2404Thr) | |
13 | g.32355160A>G | CA025023 | BRCA2 | c.7307A>G (p.Asn2436Ser) c.6938A>G (p.Asn2313Ser) n.7307A>G c.7211A>G (p.Asn2404Ser) | ClinVar dbSNP |
13 | g.32355160A>T | CA025024 | BRCA2 | c.7307A>T (p.Asn2436Ile) c.6938A>T (p.Asn2313Ile) n.7307A>T c.7211A>T (p.Asn2404Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32355160_32355161delinsAC | CA2082810743 | BRCA2 | c.7307_7308delinsAC (p.Asn2436=) c.6938_6939delinsAC (p.Asn2313=) n.7307_7308delinsAC c.7211_7212delinsAC (p.Asn2404=) | |
13 | g.32355161del | CA658823725 | BRCA2 | c.7308del (p.Asn2436LysfsTer?) c.6939del (p.Asn2313LysfsTer?) n.7308del c.7212del (p.Asn2404LysfsTer?) | ClinVar dbSNP |
13 | g.32355161C>A | CA387741002 | BRCA2 | c.7308C>A (p.Asn2436Lys) c.6939C>A (p.Asn2313Lys) n.7308C>A c.7212C>A (p.Asn2404Lys) | dbSNP |
13 | g.32355161C>G | CA387741005 | BRCA2 | c.7308C>G (p.Asn2436Lys) c.6939C>G (p.Asn2313Lys) n.7308C>G c.7212C>G (p.Asn2404Lys) | dbSNP |