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.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
13 | g.32337189_32337191delinsAAG | CA2082811826 | BRCA2 | c.2834_2836delinsAAG (p.Lys945=) c.2465_2467delinsAAG (p.Lys822=) n.2834_2836delinsAAG | |
13 | g.32337190_32337191delinsAG | CA2082811845 | BRCA2 | c.2835_2836delinsAG (p.Lys945=) c.2466_2467delinsAG (p.Lys822=) n.2835_2836delinsAG | |
13 | g.32337191_32337192del | CA016565 | BRCA2 | c.2836_2837del (p.Asp946PhefsTer12) c.2467_2468del (p.Asp823PhefsTer12) n.2836_2837del | ClinVar dbSNP gnomAD v4 |
13 | g.32337191del | CA016571 | BRCA2 | c.2836del (p.Asp946IlefsTer14) c.2467del (p.Asp823IlefsTer14) n.2836del | ClinVar dbSNP |
13 | g.32337191G>A | CA387773867 | BRCA2 | c.2836G>A (p.Asp946Asn) c.2467G>A (p.Asp823Asn) n.2836G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337191G>C | CA016576 | BRCA2 | c.2836G>C (p.Asp946His) c.2467G>C (p.Asp823His) n.2836G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337191G= | CA2082811868 | BRCA2 | c.2836G= (p.Asp946=) c.2467G= (p.Asp823=) n.2836G= | |
13 | g.32337191G>T | CA387773871 | BRCA2 | c.2836G>T (p.Asp946Tyr) c.2467G>T (p.Asp823Tyr) n.2836G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337192A= | CA2082811880 | BRCA2 | c.2837A= (p.Asp946=) c.2468A= (p.Asp823=) n.2837A= | |
13 | g.32337192A>C | CA387773875 | BRCA2 | c.2837A>C (p.Asp946Ala) c.2468A>C (p.Asp823Ala) n.2837A>C | |
13 | g.32337192A>G | CA016584 | BRCA2 | c.2837A>G (p.Asp946Gly) c.2468A>G (p.Asp823Gly) n.2837A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337192A>T | CA10583085 | BRCA2 | c.2837A>T (p.Asp946Val) c.2468A>T (p.Asp823Val) n.2837A>T | ClinVar dbSNP |
13 | g.32337192_32337193delinsAT | CA2082811885 | BRCA2 | c.2837_2838delinsAT (p.Asp946=) c.2468_2469delinsAT (p.Asp823=) n.2837_2838delinsAT | |
13 | g.32337193T>A | CA387773879 | BRCA2 | c.2838T>A (p.Asp946Glu) c.2469T>A (p.Asp823Glu) n.2838T>A | ClinVar dbSNP |
13 | g.32337193T>C | CA483437497 | BRCA2 | c.2838T>C (p.Asp946=) c.2469T>C (p.Asp823=) n.2838T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337193T>G | CA6940633 | BRCA2 | c.2838T>G (p.Asp946Glu) c.2469T>G (p.Asp823Glu) n.2838T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337193T= | CA2082811909 | BRCA2 | c.2838T= (p.Asp946=) c.2469T= (p.Asp823=) n.2838T= | |
13 | g.32337195del | CA016591 | BRCA2 | c.2840del (p.Leu947TrpfsTer13) c.2471del (p.Leu824TrpfsTer13) n.2840del | ClinVar dbSNP |
13 | g.32337194T>A | CA387773883 | BRCA2 | c.2839T>A (p.Leu947Met) c.2470T>A (p.Leu824Met) n.2839T>A | dbSNP |
13 | g.32337194T>C | CA483437499 | BRCA2 | c.2839T>C (p.Leu947=) c.2470T>C (p.Leu824=) n.2839T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337194T>G | CA387773885 | BRCA2 | c.2839T>G (p.Leu947Val) c.2470T>G (p.Leu824Val) n.2839T>G | |
13 | g.32337195T>A | CA387773887 | BRCA2 | c.2840T>A (p.Leu947Ter) c.2471T>A (p.Leu824Ter) n.2840T>A | ClinVar |
13 | g.32337195T>C | CA387773889 | BRCA2 | c.2840T>C (p.Leu947Ser) c.2471T>C (p.Leu824Ser) n.2840T>C | gnomAD v4 |
13 | g.32337195T>G | CA387773891 | BRCA2 | c.2840T>G (p.Leu947Trp) c.2471T>G (p.Leu824Trp) n.2840T>G | |
13 | g.32337195T= | CA2082811925 | BRCA2 | c.2840T= (p.Leu947=) c.2471T= (p.Leu824=) n.2840T= | |
13 | g.32337196G>A | CA483437501 | BRCA2 | c.2841G>A (p.Leu947=) c.2472G>A (p.Leu824=) n.2841G>A | dbSNP |
13 | g.32337196G>C | CA387773893 | BRCA2 | c.2841G>C (p.Leu947Phe) c.2472G>C (p.Leu824Phe) n.2841G>C | dbSNP |
13 | g.32337196G= | CA2082811935 | BRCA2 | c.2841G= (p.Leu947=) c.2472G= (p.Leu824=) n.2841G= | |
13 | g.32337196G>T | CA6940634 | BRCA2 | c.2841G>T (p.Leu947Phe) c.2472G>T (p.Leu824Phe) n.2841G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337197dup | CA016597 | BRCA2 | c.2842dup (p.Val948GlyfsTer11) c.2473dup (p.Val825GlyfsTer11) n.2842dup | ClinVar dbSNP |
13 | g.32337196_32337204delinsTGTTCTCC | CA2499222119 | BRCA2 | c.2841_2849delinsTGTTCTCC (p.Leu947PhefsTer13) c.2472_2480delinsTGTTCTCC (p.Leu824PhefsTer13) n.2841_2849delinsTGTTCTCC | |
13 | g.32337197G>A | CA387773896 | BRCA2 | c.2842G>A (p.Val948Ile) c.2473G>A (p.Val825Ile) n.2842G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337197G>C | CA387773897 | BRCA2 | c.2842G>C (p.Val948Leu) c.2473G>C (p.Val825Leu) n.2842G>C | |
13 | g.32337197G= | CA2082811949 | BRCA2 | c.2842G= (p.Val948=) c.2473G= (p.Val825=) n.2842G= | |
13 | g.32337197G>T | CA387773898 | BRCA2 | c.2842G>T (p.Val948Phe) c.2473G>T (p.Val825Phe) n.2842G>T | dbSNP |
13 | g.32337197_32337198delinsGT | CA2082811947 | BRCA2 | c.2842_2843delinsGT (p.Val948=) c.2473_2474delinsGT (p.Val825=) n.2842_2843delinsGT | |
13 | g.32337198T>A | CA387773904 | BRCA2 | c.2843T>A (p.Val948Asp) c.2474T>A (p.Val825Asp) n.2843T>A | dbSNP |
13 | g.32337198T>C | CA016605 | BRCA2 | c.2843T>C (p.Val948Ala) c.2474T>C (p.Val825Ala) n.2843T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337198T>G | CA387773902 | BRCA2 | c.2843T>G (p.Val948Gly) c.2474T>G (p.Val825Gly) n.2843T>G | dbSNP |
13 | g.32337198T= | CA2082811962 | BRCA2 | c.2843T= (p.Val948=) c.2474T= (p.Val825=) n.2843T= | |
13 | g.32337200del | CA016612 | BRCA2 | c.2845del (p.Tyr949MetfsTer11) c.2476del (p.Tyr826MetfsTer11) n.2845del | ClinVar dbSNP |
13 | g.32337199T>A | CA483437508 | BRCA2 | c.2844T>A (p.Val948=) c.2475T>A (p.Val825=) n.2844T>A | dbSNP |
13 | g.32337199T>C | CA483437506 | BRCA2 | c.2844T>C (p.Val948=) c.2475T>C (p.Val825=) n.2844T>C | |
13 | g.32337199T>G | CA483437510 | BRCA2 | c.2844T>G (p.Val948=) c.2475T>G (p.Val825=) n.2844T>G | dbSNP gnomAD v4 |
13 | g.32337199T= | CA2082811981 | BRCA2 | c.2844T= (p.Val948=) c.2475T= (p.Val825=) n.2844T= | |
13 | g.32337200T>A | CA387773906 | BRCA2 | c.2845T>A (p.Tyr949Asn) c.2476T>A (p.Tyr826Asn) n.2845T>A | ClinVar dbSNP |
13 | g.32337200T>C | CA387773908 | BRCA2 | c.2845T>C (p.Tyr949His) c.2476T>C (p.Tyr826His) n.2845T>C | |
13 | g.32337200T>G | CA387773909 | BRCA2 | c.2845T>G (p.Tyr949Asp) c.2476T>G (p.Tyr826Asp) n.2845T>G | dbSNP gnomAD v2 gnomAD v4 |