| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32330917_32331031del | CA2499222059 | BRCA2 | c.682-2_793+1del c.313-2_424+1del c.*461-2_*572+1del n.880-2_991+1del n.682-2_793+1del | ClinVar dbSNP |
| 13 | g.32330953_32330955delinsGTC | CA2082759139 | BRCA2 | c.716_718delinsGTC (p.Ser239=) c.347_349delinsGTC (p.Ser116=) c.*495_*497delinsGTC (n.*495_*497delinsGTC) n.914_916delinsGTC n.716_718delinsGTC | |
| 13 | g.32330955_32330956del | CA658683831 | BRCA2 | c.718_719del (p.Leu240GlufsTer4) c.349_350del (p.Leu117GlufsTer4) c.*497_*498del (n.*497_*498del) n.916_917del n.718_719del | ClinVar dbSNP |
| 13 | g.32330955C>A | CA387759979 | BRCA2 | c.718C>A (p.Leu240Met) c.349C>A (p.Leu117Met) c.*497C>A (n.*497C>A) n.916C>A n.718C>A | dbSNP |
| 13 | g.32330955C>G | CA387759981 | BRCA2 | c.718C>G (p.Leu240Val) c.349C>G (p.Leu117Val) c.*497C>G (n.*497C>G) n.916C>G n.718C>G | dbSNP |
| 13 | g.32330955C>T | CA483274417 | BRCA2 | c.718C>T (p.Leu240=) c.349C>T (p.Leu117=) c.*497C>T (n.*497C>T) n.916C>T n.718C>T | dbSNP |
| 13 | g.32330956T>A | CA387759982 | BRCA2 | c.719T>A (p.Leu240Gln) c.350T>A (p.Leu117Gln) c.*498T>A (n.*498T>A) n.917T>A n.719T>A | |
| 13 | g.32330956T>C | CA387759983 | BRCA2 | c.719T>C (p.Leu240Pro) c.350T>C (p.Leu117Pro) c.*498T>C (n.*498T>C) n.917T>C n.719T>C | |
| 13 | g.32330956T>G | CA387759984 | BRCA2 | c.719T>G (p.Leu240Arg) c.350T>G (p.Leu117Arg) c.*498T>G (n.*498T>G) n.917T>G n.719T>G | |
| 13 | g.32330957G>A | CA483274419 | BRCA2 | c.720G>A (p.Leu240=) c.351G>A (p.Leu117=) c.*499G>A (n.*499G>A) n.918G>A n.720G>A | dbSNP |
| 13 | g.32330957G>C | CA483274420 | BRCA2 | c.720G>C (p.Leu240=) c.351G>C (p.Leu117=) c.*499G>C (n.*499G>C) n.918G>C n.720G>C | dbSNP |
| 13 | g.32330957G>T | CA483274421 | BRCA2 | c.720G>T (p.Leu240=) c.351G>T (p.Leu117=) c.*499G>T (n.*499G>T) n.918G>T n.720G>T | ClinVar |
| 13 | g.32330958A= | CA2082759144 | BRCA2 | c.721A= (p.Lys241=) c.352A= (p.Lys118=) c.*500A= (n.*500A=) n.919A= n.721A= | |
| 13 | g.32330958A>C | CA387759989 | BRCA2 | c.721A>C (p.Lys241Gln) c.352A>C (p.Lys118Gln) c.*500A>C (n.*500A>C) n.919A>C n.721A>C | |
| 13 | g.32330958A>G | CA387759987 | BRCA2 | c.721A>G (p.Lys241Glu) c.352A>G (p.Lys118Glu) c.*500A>G (n.*500A>G) n.919A>G n.721A>G | gnomAD v4 |
| 13 | g.32330958A>T | CA10579470 | BRCA2 | c.721A>T (p.Lys241Ter) c.352A>T (p.Lys118Ter) c.*500A>T (n.*500A>T) n.919A>T n.721A>T | ClinVar dbSNP |
| 13 | g.32330959del | CA2499222060 | BRCA2 | c.722del (p.Lys241ArgfsTer10) c.353del (p.Lys118ArgfsTer10) c.*501del (n.*501del) n.920del n.722del | ClinVar dbSNP |
| 13 | g.32330959A= | CA2082759153 | BRCA2 | c.722A= (p.Lys241=) c.353A= (p.Lys118=) c.*501A= (n.*501A=) n.920A= n.722A= | |
| 13 | g.32330959A>C | CA387759990 | BRCA2 | c.722A>C (p.Lys241Thr) c.353A>C (p.Lys118Thr) c.*501A>C (n.*501A>C) n.920A>C n.722A>C | ClinVar dbSNP |
| 13 | g.32330959A>G | CA387759992 | BRCA2 | c.722A>G (p.Lys241Arg) c.353A>G (p.Lys118Arg) c.*501A>G (n.*501A>G) n.920A>G n.722A>G | ClinVar dbSNP |
| 13 | g.32330959A>T | CA387759994 | BRCA2 | c.722A>T (p.Lys241Met) c.353A>T (p.Lys118Met) c.*501A>T (n.*501A>T) n.920A>T n.722A>T | |
| 13 | g.32330959_32330960delinsAG | CA2082759151 | BRCA2 | c.722_723delinsAG (p.Lys241=) c.353_354delinsAG (p.Lys118=) c.*501_*502delinsAG (n.*501_*502delinsAG) n.920_921delinsAG n.722_723delinsAG | |
| 13 | g.32330960del | CA10589043 | BRCA2 | c.723del (p.Asn243MetfsTer8) c.354del (p.Asn120MetfsTer8) c.*502del (n.*502del) n.921del n.723del | ClinVar dbSNP |
| 13 | g.32330960G>A | CA483274424 | BRCA2 | c.723G>A (p.Lys241=) c.354G>A (p.Lys118=) c.*502G>A (n.*502G>A) n.921G>A n.723G>A | ClinVar dbSNP |
| 13 | g.32330960G>C | CA387759995 | BRCA2 | c.723G>C (p.Lys241Asn) c.354G>C (p.Lys118Asn) c.*502G>C (n.*502G>C) n.921G>C n.723G>C | |
| 13 | g.32330960G>T | CA387759997 | BRCA2 | c.723G>T (p.Lys241Asn) c.354G>T (p.Lys118Asn) c.*502G>T (n.*502G>T) n.921G>T n.723G>T | |
| 13 | g.32330960_32330961delinsCT | CA913191077 | BRCA2 | c.723_724delinsCT (p.Lys241AsnfsTer2) c.354_355delinsCT (p.Lys118AsnfsTer2) c.*502_*503delinsCT (n.*502_*503delinsCT) n.921_922delinsCT n.723_724delinsCT | ClinVar dbSNP |
| 13 | g.32330960_32330961delinsGA | CA2082759163 | BRCA2 | c.723_724delinsGA (p.Lys241=) c.354_355delinsGA (p.Lys118=) c.*502_*503delinsGA (n.*502_*503delinsGA) n.921_922delinsGA n.723_724delinsGA | |
| 13 | g.32330961A>C | CA387759999 | BRCA2 | c.724A>C (p.Lys242Gln) c.355A>C (p.Lys119Gln) c.*503A>C (n.*503A>C) n.922A>C n.724A>C | gnomAD v4 |
| 13 | g.32330961A>G | CA387760000 | BRCA2 | c.724A>G (p.Lys242Glu) c.355A>G (p.Lys119Glu) c.*503A>G (n.*503A>G) n.922A>G n.724A>G | |
| 13 | g.32330961A>T | CA387760002 | BRCA2 | c.724A>T (p.Lys242Ter) c.355A>T (p.Lys119Ter) c.*503A>T (n.*503A>T) n.922A>T n.724A>T | ClinVar dbSNP |
| 13 | g.32330965dup | CA10589044 | BRCA2 | c.728dup (p.Asn243LysfsTer2) c.359dup (p.Asn120LysfsTer2) c.*507dup (n.*507dup) n.926dup n.728dup | ClinVar dbSNP |
| 13 | g.32330965del | CA2082759173 | BRCA2 | c.728del (p.Asn243MetfsTer8) c.359del (p.Asn120MetfsTer8) c.*507del (n.*507del) n.926del n.728del | ClinVar dbSNP |
| 13 | g.32330962A>C | CA387760003 | BRCA2 | c.725A>C (p.Lys242Thr) c.356A>C (p.Lys119Thr) c.*504A>C (n.*504A>C) n.923A>C n.725A>C | |
| 13 | g.32330962A>G | CA387760004 | BRCA2 | c.725A>G (p.Lys242Arg) c.356A>G (p.Lys119Arg) c.*504A>G (n.*504A>G) n.923A>G n.725A>G | ClinVar gnomAD v4 |
| 13 | g.32330962A>T | CA387760006 | BRCA2 | c.725A>T (p.Lys242Ile) c.356A>T (p.Lys119Ile) c.*504A>T (n.*504A>T) n.923A>T n.725A>T | |
| 13 | g.32330963A= | CA2082759179 | BRCA2 | c.726A= (p.Lys242=) c.357A= (p.Lys119=) c.*505A= (n.*505A=) n.924A= n.726A= | |
| 13 | g.32330963A>C | CA387760010 | BRCA2 | c.726A>C (p.Lys242Asn) c.357A>C (p.Lys119Asn) c.*505A>C (n.*505A>C) n.924A>C n.726A>C | |
| 13 | g.32330963A>G | CA483274427 | BRCA2 | c.726A>G (p.Lys242=) c.357A>G (p.Lys119=) c.*505A>G (n.*505A>G) n.924A>G n.726A>G | ClinVar dbSNP |
| 13 | g.32330963A>T | CA387760008 | BRCA2 | c.726A>T (p.Lys242Asn) c.357A>T (p.Lys119Asn) c.*505A>T (n.*505A>T) n.924A>T n.726A>T | |
| 13 | g.32330964A>C | CA387760011 | BRCA2 | c.727A>C (p.Asn243His) c.358A>C (p.Asn120His) c.*506A>C (n.*506A>C) n.925A>C n.727A>C | |
| 13 | g.32330964A>G | CA387760012 | BRCA2 | c.727A>G (p.Asn243Asp) c.358A>G (p.Asn120Asp) c.*506A>G (n.*506A>G) n.925A>G n.727A>G | |
| 13 | g.32330964A>T | CA387760014 | BRCA2 | c.727A>T (p.Asn243Tyr) c.358A>T (p.Asn120Tyr) c.*506A>T (n.*506A>T) n.925A>T n.727A>T | |
| 13 | g.32330964_32330966delinsAAT | CA2082759183 | BRCA2 | c.727_729delinsAAT (p.Asn243=) c.358_360delinsAAT (p.Asn120=) c.*506_*508delinsAAT (n.*506_*508delinsAAT) n.925_927delinsAAT n.727_729delinsAAT | |
| 13 | g.32330965A= | CA2082759190 | BRCA2 | c.728A= (p.Asn243=) c.359A= (p.Asn120=) c.*507A= (n.*507A=) n.926A= n.728A= | |
| 13 | g.32330965A>C | CA387760016 | BRCA2 | c.728A>C (p.Asn243Thr) c.359A>C (p.Asn120Thr) c.*507A>C (n.*507A>C) n.926A>C n.728A>C | |
| 13 | g.32330965A>G | CA387760017 | BRCA2 | c.728A>G (p.Asn243Ser) c.359A>G (p.Asn120Ser) c.*507A>G (n.*507A>G) n.926A>G n.728A>G | |
| 13 | g.32330965A>T | CA387760018 | BRCA2 | c.728A>T (p.Asn243Ile) c.359A>T (p.Asn120Ile) c.*507A>T (n.*507A>T) n.926A>T n.728A>T | |
| 13 | g.32330965_32330966del | CA915946949 | BRCA2 | c.728_729del (p.Asn243ArgfsTer2) c.359_360del (p.Asn120ArgfsTer2) c.*507_*508del (n.*507_*508del) n.926_927del n.728_729del | ClinVar dbSNP |