Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
13 | g.32362523_32362591del | CA2695217933 | BRCA2 | c.7806_7874del c.7437_7505del c.273_341del c.7814_7882del (p.Gly2605_Ile2627del) c.371_439del n.7814_7882del c.7710_7778del | |
13 | g.32362524_32362624del | CA913203499 | BRCA2 | c.7807_7907del (p.Ala2603CysfsTer4) c.7438_7538del (p.Ala2480CysfsTer4) c.274_374del (p.Ala92CysfsTer4) c.7815_7915del (p.Leu2606AlafsTer?) c.372_472del n.7815_7915del c.7711_7811del (p.Ala2571CysfsTer4) | |
13 | g.32362569_32362579del | CA2695217939 | BRCA2 | c.7852_7862del (p.Ile2618Ter) c.7483_7493del (p.Ile2495Ter) c.319_329del (p.Ile107Ter) c.7860_7870del (p.Glu2620AspfsTer?) c.417_427del n.7860_7870del c.7756_7766del (p.Ile2586Ter) | |
13 | g.32362572dup | CA165137 | BRCA2 | c.7855dup (p.Trp2619LeufsTer4) c.7486dup (p.Trp2496LeufsTer4) c.322dup (p.Trp108LeufsTer4) c.7863dup (p.Gly2622TrpfsTer?) c.420dup n.7863dup c.7759dup (p.Trp2587LeufsTer4) | ClinVar dbSNP |
13 | g.32362572del | CA916080524 | BRCA2 | c.7855del (p.Trp2619GlyfsTer29) c.7486del (p.Trp2496GlyfsTer29) c.322del (p.Trp108GlyfsTer29) c.7863del (p.Phe2621LeufsTer4) c.420del n.7863del c.7759del (p.Trp2587GlyfsTer29) | ClinVar dbSNP |
13 | g.32362571T>A | CA483260883 | BRCA2 | c.7854T>A (p.Ile2618=) c.7485T>A (p.Ile2495=) c.321T>A (p.Ile107=) c.7862T>A (p.Phe2621Tyr) c.419T>A n.7862T>A c.7758T>A (p.Ile2586=) | dbSNP |
13 | g.32362571T>C | CA483260884 | BRCA2 | c.7854T>C (p.Ile2618=) c.7485T>C (p.Ile2495=) c.321T>C (p.Ile107=) c.7862T>C (p.Phe2621Ser) c.419T>C n.7862T>C c.7758T>C (p.Ile2586=) | |
13 | g.32362571T>G | CA387747055 | BRCA2 | c.7854T>G (p.Ile2618Met) c.7485T>G (p.Ile2495Met) c.321T>G (p.Ile107Met) c.7862T>G (p.Phe2621Cys) c.419T>G n.7862T>G c.7758T>G (p.Ile2586Met) | |
13 | g.32362572T>A | CA387747056 | BRCA2 | c.7855T>A (p.Trp2619Arg) c.7486T>A (p.Trp2496Arg) c.322T>A (p.Trp108Arg) c.7863T>A (p.Phe2621Leu) c.420T>A n.7863T>A c.7759T>A (p.Trp2587Arg) | |
13 | g.32362572T>C | CA387747058 | BRCA2 | c.7855T>C (p.Trp2619Arg) c.7486T>C (p.Trp2496Arg) c.322T>C (p.Trp108Arg) c.7863T>C (p.Phe2621=) c.420T>C n.7863T>C c.7759T>C (p.Trp2587Arg) | ClinVar dbSNP |
13 | g.32362572T>G | CA387747057 | BRCA2 | c.7855T>G (p.Trp2619Gly) c.7486T>G (p.Trp2496Gly) c.322T>G (p.Trp108Gly) c.7863T>G (p.Phe2621Leu) c.420T>G n.7863T>G c.7759T>G (p.Trp2587Gly) | ClinVar |
13 | g.32362572T= | CA2082830812 | BRCA2 | c.7855T= (p.Trp2619=) c.7486T= (p.Trp2496=) c.322T= (p.Trp108=) c.7863T= (p.Phe2621=) c.420T= n.7863T= c.7759T= (p.Trp2587=) | |
13 | g.32362572_32362573delinsTG | CA2082830811 | BRCA2 | c.7855_7856delinsTG (p.Trp2619=) c.7486_7487delinsTG (p.Trp2496=) c.322_323delinsTG (p.Trp108=) c.7863_7864delinsTG (p.Phe2621=) c.420_421delinsTG n.7863_7864delinsTG c.7759_7760delinsTG (p.Trp2587=) | |
13 | g.32362573G>A | CA025309 | BRCA2 | c.7856G>A (p.Trp2619Ter) c.7487G>A (p.Trp2496Ter) c.323G>A (p.Trp108Ter) c.7864G>A (p.Gly2622Arg) c.421G>A n.7864G>A c.7760G>A (p.Trp2587Ter) | ClinVar dbSNP |
13 | g.32362573G>C | CA025310 | BRCA2 | c.7856G>C (p.Trp2619Ser) c.7487G>C (p.Trp2496Ser) c.323G>C (p.Trp108Ser) c.7864G>C (p.Gly2622Arg) c.421G>C n.7864G>C c.7760G>C (p.Trp2587Ser) | ClinVar dbSNP |
13 | g.32362573G= | CA2082830822 | BRCA2 | c.7856G= (p.Trp2619=) c.7487G= (p.Trp2496=) c.323G= (p.Trp108=) c.7864G= (p.Gly2622=) c.421G= n.7864G= c.7760G= (p.Trp2587=) | |
13 | g.32362573G>T | CA387747059 | BRCA2 | c.7856G>T (p.Trp2619Leu) c.7487G>T (p.Trp2496Leu) c.323G>T (p.Trp108Leu) c.7864G>T (p.Gly2622Trp) c.421G>T n.7864G>T c.7760G>T (p.Trp2587Leu) | dbSNP |
13 | g.32362575del | CA10586581 | BRCA2 | c.7858del (p.Val2620PhefsTer28) c.7489del (p.Val2497PhefsTer28) c.325del (p.Val109PhefsTer28) c.7866del (p.Phe2623LeufsTer2) c.423del n.7866del c.7762del (p.Val2588PhefsTer28) | ClinVar dbSNP |
13 | g.32362574G>A | CA025311 | BRCA2 | c.7857G>A (p.Trp2619Ter) c.7488G>A (p.Trp2496Ter) c.324G>A (p.Trp108Ter) c.7865G>A (p.Gly2622Glu) c.422G>A n.7865G>A c.7761G>A (p.Trp2587Ter) | ClinVar dbSNP |
13 | g.32362574G>C | CA387747060 | BRCA2 | c.7857G>C (p.Trp2619Cys) c.7488G>C (p.Trp2496Cys) c.324G>C (p.Trp108Cys) c.7865G>C (p.Gly2622Ala) c.422G>C n.7865G>C c.7761G>C (p.Trp2587Cys) | ClinVar dbSNP |
13 | g.32362574G= | CA2082830835 | BRCA2 | c.7857G= (p.Trp2619=) c.7488G= (p.Trp2496=) c.324G= (p.Trp108=) c.7865G= (p.Gly2622=) c.422G= n.7865G= c.7761G= (p.Trp2587=) | |
13 | g.32362574G>T | CA387747061 | BRCA2 | c.7857G>T (p.Trp2619Cys) c.7488G>T (p.Trp2496Cys) c.324G>T (p.Trp108Cys) c.7865G>T (p.Gly2622Val) c.422G>T n.7865G>T c.7761G>T (p.Trp2587Cys) | dbSNP |
13 | g.32362575G>A | CA387747062 | BRCA2 | c.7858G>A (p.Val2620Ile) c.7489G>A (p.Val2497Ile) c.325G>A (p.Val109Ile) c.7866G>A (p.Gly2622=) c.423G>A n.7866G>A c.7762G>A (p.Val2588Ile) | ClinVar dbSNP |
13 | g.32362575G>C | CA387747063 | BRCA2 | c.7858G>C (p.Val2620Leu) c.7489G>C (p.Val2497Leu) c.325G>C (p.Val109Leu) c.7866G>C (p.Gly2622=) c.423G>C n.7866G>C c.7762G>C (p.Val2588Leu) | |
13 | g.32362575G>T | CA387747064 | BRCA2 | c.7858G>T (p.Val2620Phe) c.7489G>T (p.Val2497Phe) c.325G>T (p.Val109Phe) c.7866G>T (p.Gly2622=) c.423G>T n.7866G>T c.7762G>T (p.Val2588Phe) | ClinVar |
13 | g.32362575_32362576del | CA2582341812 | BRCA2 | c.7858_7859del (p.Val2620LeufsTer2) c.7489_7490del (p.Val2497LeufsTer2) c.325_326del (p.Val109LeufsTer2) c.7866_7867del (p.Phe2623TyrfsTer?) c.423_424del n.7866_7867del c.7762_7763del (p.Val2588LeufsTer2) | ClinVar |
13 | g.32362575_32362576delinsGT | CA2082830848 | BRCA2 | c.7858_7859delinsGT (p.Val2620=) c.7489_7490delinsGT (p.Val2497=) c.325_326delinsGT (p.Val109=) c.7866_7867delinsGT (p.Gly2622=) c.423_424delinsGT n.7866_7867delinsGT c.7762_7763delinsGT (p.Val2588=) | |
13 | g.32362576T>A | CA387747066 | BRCA2 | c.7859T>A (p.Val2620Asp) c.7490T>A (p.Val2497Asp) c.326T>A (p.Val109Asp) c.7867T>A (p.Phe2623Ile) c.424T>A n.7867T>A c.7763T>A (p.Val2588Asp) | ClinVar dbSNP |
13 | g.32362576T>C | CA387747067 | BRCA2 | c.7859T>C (p.Val2620Ala) c.7490T>C (p.Val2497Ala) c.326T>C (p.Val109Ala) c.7867T>C (p.Phe2623Leu) c.424T>C n.7867T>C c.7763T>C (p.Val2588Ala) | |
13 | g.32362576T>G | CA387747065 | BRCA2 | c.7859T>G (p.Val2620Gly) c.7490T>G (p.Val2497Gly) c.326T>G (p.Val109Gly) c.7867T>G (p.Phe2623Val) c.424T>G n.7867T>G c.7763T>G (p.Val2588Gly) | |
13 | g.32362578del | CA10589453 | BRCA2 | c.7861del (p.Tyr2621IlefsTer27) c.7492del (p.Tyr2498IlefsTer27) c.328del (p.Tyr110IlefsTer27) c.7869del (p.Phe2623LeufsTer2) c.426del n.7869del c.7765del (p.Tyr2589IlefsTer27) | ClinVar dbSNP |
13 | g.32362577T>A | CA483260890 | BRCA2 | c.7860T>A (p.Val2620=) c.7491T>A (p.Val2497=) c.327T>A (p.Val109=) c.7868T>A (p.Phe2623Tyr) c.425T>A n.7868T>A c.7764T>A (p.Val2588=) | |
13 | g.32362577T>C | CA483260891 | BRCA2 | c.7860T>C (p.Val2620=) c.7491T>C (p.Val2497=) c.327T>C (p.Val109=) c.7868T>C (p.Phe2623Ser) c.425T>C n.7868T>C c.7764T>C (p.Val2588=) | dbSNP |
13 | g.32362577T>G | CA483260892 | BRCA2 | c.7860T>G (p.Val2620=) c.7491T>G (p.Val2497=) c.327T>G (p.Val109=) c.7868T>G (p.Phe2623Cys) c.425T>G n.7868T>G c.7764T>G (p.Val2588=) | |
13 | g.32362578T>A | CA387747068 | BRCA2 | c.7861T>A (p.Tyr2621Asn) c.7492T>A (p.Tyr2498Asn) c.328T>A (p.Tyr110Asn) c.7869T>A (p.Phe2623Leu) c.426T>A n.7869T>A c.7765T>A (p.Tyr2589Asn) | dbSNP |
13 | g.32362578T>C | CA387747069 | BRCA2 | c.7861T>C (p.Tyr2621His) c.7492T>C (p.Tyr2498His) c.328T>C (p.Tyr110His) c.7869T>C (p.Phe2623=) c.426T>C n.7869T>C c.7765T>C (p.Tyr2589His) | dbSNP |
13 | g.32362578T>G | CA387747070 | BRCA2 | c.7861T>G (p.Tyr2621Asp) c.7492T>G (p.Tyr2498Asp) c.328T>G (p.Tyr110Asp) c.7869T>G (p.Phe2623Leu) c.426T>G n.7869T>G c.7765T>G (p.Tyr2589Asp) | |
13 | g.32362579A= | CA2082830859 | BRCA2 | c.7862A= (p.Tyr2621=) c.7493A= (p.Tyr2498=) c.329A= (p.Tyr110=) c.7870A= (p.Ile2624=) c.427A= n.7870A= c.7766A= (p.Tyr2589=) | |
13 | g.32362579A>C | CA387747071 | BRCA2 | c.7862A>C (p.Tyr2621Ser) c.7493A>C (p.Tyr2498Ser) c.329A>C (p.Tyr110Ser) c.7870A>C (p.Ile2624Leu) c.427A>C n.7870A>C c.7766A>C (p.Tyr2589Ser) | |
13 | g.32362579A>G | CA387747072 | BRCA2 | c.7862A>G (p.Tyr2621Cys) c.7493A>G (p.Tyr2498Cys) c.329A>G (p.Tyr110Cys) c.7870A>G (p.Ile2624Val) c.427A>G n.7870A>G c.7766A>G (p.Tyr2589Cys) | ClinVar gnomAD v4 |
13 | g.32362579A>T | CA387747073 | BRCA2 | c.7862A>T (p.Tyr2621Phe) c.7493A>T (p.Tyr2498Phe) c.329A>T (p.Tyr110Phe) c.7870A>T (p.Ile2624Leu) c.427A>T n.7870A>T c.7766A>T (p.Tyr2589Phe) | ClinVar dbSNP |
13 | g.32362580T>A | CA025312 | BRCA2 | c.7863T>A (p.Tyr2621Ter) c.7494T>A (p.Tyr2498Ter) c.330T>A (p.Tyr110Ter) c.7871T>A (p.Ile2624Lys) c.428T>A n.7871T>A c.7767T>A (p.Tyr2589Ter) | ClinVar dbSNP |
13 | g.32362580T>C | CA483260894 | BRCA2 | c.7863T>C (p.Tyr2621=) c.7494T>C (p.Tyr2498=) c.330T>C (p.Tyr110=) c.7871T>C (p.Ile2624Thr) c.428T>C n.7871T>C c.7767T>C (p.Tyr2589=) | |
13 | g.32362580T>G | CA387747074 | BRCA2 | c.7863T>G (p.Tyr2621Ter) c.7494T>G (p.Tyr2498Ter) c.330T>G (p.Tyr110Ter) c.7871T>G (p.Ile2624Arg) c.428T>G n.7871T>G c.7767T>G (p.Tyr2589Ter) | |
13 | g.32362580T= | CA2082830868 | BRCA2 | c.7863T= (p.Tyr2621=) c.7494T= (p.Tyr2498=) c.330T= (p.Tyr110=) c.7871T= (p.Ile2624=) c.428T= n.7871T= c.7767T= (p.Tyr2589=) | |
13 | g.32362581A= | CA2082830897 | BRCA2 | c.7864A= (p.Asn2622=) c.7495A= (p.Asn2499=) c.331A= (p.Asn111=) c.7872A= (p.Ile2624=) c.429A= n.7872A= c.7768A= (p.Asn2590=) | |
13 | g.32362581A>C | CA387747075 | BRCA2 | c.7864A>C (p.Asn2622His) c.7495A>C (p.Asn2499His) c.331A>C (p.Asn111His) c.7872A>C (p.Ile2624=) c.429A>C n.7872A>C c.7768A>C (p.Asn2590His) | |
13 | g.32362581A>G | CA387747076 | BRCA2 | c.7864A>G (p.Asn2622Asp) c.7495A>G (p.Asn2499Asp) c.331A>G (p.Asn111Asp) c.7872A>G (p.Ile2624Met) c.429A>G n.7872A>G c.7768A>G (p.Asn2590Asp) | ClinVar dbSNP |
13 | g.32362581A>T | CA387747077 | BRCA2 | c.7864A>T (p.Asn2622Tyr) c.7495A>T (p.Asn2499Tyr) c.331A>T (p.Asn111Tyr) c.7872A>T (p.Ile2624=) c.429A>T n.7872A>T c.7768A>T (p.Asn2590Tyr) | dbSNP |
13 | g.32362582dup | CA10589454 | BRCA2 | c.7865dup (p.Asn2622LysfsTer4) c.7496dup (p.Asn2499LysfsTer4) c.332dup (p.Asn111LysfsTer4) c.7873dup (p.Ile2625AsnfsTer?) c.430dup n.7873dup c.7769dup (p.Asn2590LysfsTer4) | ClinVar dbSNP |
13 | g.32362582del | CA2727841626 | BRCA2 | c.7865del (p.Asn2622IlefsTer26) c.7496del (p.Asn2499IlefsTer26) c.332del (p.Asn111IlefsTer26) c.7873del (p.Ile2625SerfsTer3) c.430del n.7873del c.7769del (p.Asn2590IlefsTer26) | dbSNP |
13 | g.32362582A= | CA2082830905 | BRCA2 | c.7865A= (p.Asn2622=) c.7496A= (p.Asn2499=) c.332A= (p.Asn111=) c.7873A= (p.Ile2625=) c.430A= n.7873A= c.7769A= (p.Asn2590=) | |
13 | g.32362582A>C | CA387747079 | BRCA2 | c.7865A>C (p.Asn2622Thr) c.7496A>C (p.Asn2499Thr) c.332A>C (p.Asn111Thr) c.7873A>C (p.Ile2625Leu) c.430A>C n.7873A>C c.7769A>C (p.Asn2590Thr) | ClinVar dbSNP |
13 | g.32362582A>G | CA025313 | BRCA2 | c.7865A>G (p.Asn2622Ser) c.7496A>G (p.Asn2499Ser) c.332A>G (p.Asn111Ser) c.7873A>G (p.Ile2625Val) c.430A>G n.7873A>G c.7769A>G (p.Asn2590Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362582A>T | CA387747078 | BRCA2 | c.7865A>T (p.Asn2622Ile) c.7496A>T (p.Asn2499Ile) c.332A>T (p.Asn111Ile) c.7873A>T (p.Ile2625Phe) c.430A>T n.7873A>T c.7769A>T (p.Asn2590Ile) | ClinVar dbSNP |
13 | g.32362583T>A | CA387747080 | BRCA2 | c.7866T>A (p.Asn2622Lys) c.7497T>A (p.Asn2499Lys) c.333T>A (p.Asn111Lys) c.7874T>A (p.Ile2625Asn) c.431T>A n.7874T>A c.7770T>A (p.Asn2590Lys) | |
13 | g.32362583T>C | CA483260897 | BRCA2 | c.7866T>C (p.Asn2622=) c.7497T>C (p.Asn2499=) c.333T>C (p.Asn111=) c.7874T>C (p.Ile2625Thr) c.431T>C n.7874T>C c.7770T>C (p.Asn2590=) | |
13 | g.32362583T>G | CA387747081 | BRCA2 | c.7866T>G (p.Asn2622Lys) c.7497T>G (p.Asn2499Lys) c.333T>G (p.Asn111Lys) c.7874T>G (p.Ile2625Ser) c.431T>G n.7874T>G c.7770T>G (p.Asn2590Lys) | |
13 | g.32362584C>A | CA387747082 | BRCA2 | c.7867C>A (p.His2623Asn) c.7498C>A (p.His2500Asn) c.334C>A (p.His112Asn) c.7875C>A (p.Ile2625=) c.432C>A n.7875C>A c.7771C>A (p.His2591Asn) | ClinVar |
13 | g.32362584C= | CA2082830910 | BRCA2 | c.7867C= (p.His2623=) c.7498C= (p.His2500=) c.334C= (p.His112=) c.7875C= (p.Ile2625=) c.432C= n.7875C= c.7771C= (p.His2591=) | |
13 | g.32362584C>G | CA387747083 | BRCA2 | c.7867C>G (p.His2623Asp) c.7498C>G (p.His2500Asp) c.334C>G (p.His112Asp) c.7875C>G (p.Ile2625Met) c.432C>G n.7875C>G c.7771C>G (p.His2591Asp) | |
13 | g.32362584C>T | CA387747084 | BRCA2 | c.7867C>T (p.His2623Tyr) c.7498C>T (p.His2500Tyr) c.334C>T (p.His112Tyr) c.7875C>T (p.Ile2625=) c.432C>T n.7875C>T c.7771C>T (p.His2591Tyr) | ClinVar dbSNP |
13 | g.32362585A= | CA2082830918 | BRCA2 | c.7868A= (p.His2623=) c.7499A= (p.His2500=) c.335A= (p.His112=) c.7876A= (p.Thr2626=) c.433A= n.7876A= c.7772A= (p.His2591=) | |
13 | g.32362585A>C | CA387747086 | BRCA2 | c.7868A>C (p.His2623Pro) c.7499A>C (p.His2500Pro) c.335A>C (p.His112Pro) c.7876A>C (p.Thr2626Pro) c.433A>C n.7876A>C c.7772A>C (p.His2591Pro) | ClinVar |
13 | g.32362585A>G | CA025314 | BRCA2 | c.7868A>G (p.His2623Arg) c.7499A>G (p.His2500Arg) c.335A>G (p.His112Arg) c.7876A>G (p.Thr2626Ala) c.433A>G n.7876A>G c.7772A>G (p.His2591Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32362585A>T | CA387747085 | BRCA2 | c.7868A>T (p.His2623Leu) c.7499A>T (p.His2500Leu) c.335A>T (p.His112Leu) c.7876A>T (p.Thr2626Ser) c.433A>T n.7876A>T c.7772A>T (p.His2591Leu) | ClinVar dbSNP |
13 | g.32362586C>A | CA387747087 | BRCA2 | c.7869C>A (p.His2623Gln) c.7500C>A (p.His2500Gln) c.336C>A (p.His112Gln) c.7877C>A (p.Thr2626Asn) c.434C>A n.7877C>A c.7773C>A (p.His2591Gln) | dbSNP |
13 | g.32362586C= | CA2082830927 | BRCA2 | c.7869C= (p.His2623=) c.7500C= (p.His2500=) c.336C= (p.His112=) c.7877C= (p.Thr2626=) c.434C= n.7877C= c.7773C= (p.His2591=) | |
13 | g.32362586C>G | CA387747088 | BRCA2 | c.7869C>G (p.His2623Gln) c.7500C>G (p.His2500Gln) c.336C>G (p.His112Gln) c.7877C>G (p.Thr2626Ser) c.434C>G n.7877C>G c.7773C>G (p.His2591Gln) | dbSNP |
13 | g.32362586C>T | CA483260899 | BRCA2 | c.7869C>T (p.His2623=) c.7500C>T (p.His2500=) c.336C>T (p.His112=) c.7877C>T (p.Thr2626Ile) c.434C>T n.7877C>T c.7773C>T (p.His2591=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362586_32362588delinsCTA | CA2082830926 | BRCA2 | c.7869_7871delinsCTA (p.His2623=) c.7500_7502delinsCTA (p.His2500=) c.336_338delinsCTA (p.His112=) c.7877_7879delinsCTA (p.Thr2626=) c.434_436delinsCTA n.7877_7879delinsCTA c.7773_7775delinsCTA (p.His2591=) | |
13 | g.32362587T>A | CA387747089 | BRCA2 | c.7870T>A (p.Tyr2624Asn) c.7501T>A (p.Tyr2501Asn) c.337T>A (p.Tyr113Asn) c.7878T>A (p.Thr2626=) c.435T>A n.7878T>A c.7774T>A (p.Tyr2592Asn) | dbSNP |
13 | g.32362587T>C | CA387747090 | BRCA2 | c.7870T>C (p.Tyr2624His) c.7501T>C (p.Tyr2501His) c.337T>C (p.Tyr113His) c.7878T>C (p.Thr2626=) c.435T>C n.7878T>C c.7774T>C (p.Tyr2592His) | ClinVar dbSNP |
13 | g.32362587T>G | CA387747091 | BRCA2 | c.7870T>G (p.Tyr2624Asp) c.7501T>G (p.Tyr2501Asp) c.337T>G (p.Tyr113Asp) c.7878T>G (p.Thr2626=) c.435T>G n.7878T>G c.7774T>G (p.Tyr2592Asp) | ClinVar |
13 | g.32362587T= | CA2082830936 | BRCA2 | c.7870T= (p.Tyr2624=) c.7501T= (p.Tyr2501=) c.337T= (p.Tyr113=) c.7878T= (p.Thr2626=) c.435T= n.7878T= c.7774T= (p.Tyr2592=) | |
13 | g.32362589_32362590del | CA025316 | BRCA2 | c.7872_7873del (p.Tyr2624Ter) c.7503_7504del (p.Tyr2501Ter) c.339_340del (p.Tyr113Ter) c.7880_7881del (p.Ile2627ArgfsTer?) c.437_438del n.7880_7881del c.7776_7777del (p.Tyr2592Ter) | ClinVar dbSNP |
13 | g.32362588A= | CA2082830962 | BRCA2 | c.7871A= (p.Tyr2624=) c.7502A= (p.Tyr2501=) c.338A= (p.Tyr113=) c.7879A= (p.Ile2627=) c.436A= n.7879A= c.7775A= (p.Tyr2592=) | |
13 | g.32362588A>C | CA387747093 | BRCA2 | c.7871A>C (p.Tyr2624Ser) c.7502A>C (p.Tyr2501Ser) c.338A>C (p.Tyr113Ser) c.7879A>C (p.Ile2627Leu) c.436A>C n.7879A>C c.7775A>C (p.Tyr2592Ser) | |
13 | g.32362588A>G | CA025315 | BRCA2 | c.7871A>G (p.Tyr2624Cys) c.7502A>G (p.Tyr2501Cys) c.338A>G (p.Tyr113Cys) c.7879A>G (p.Ile2627Val) c.436A>G n.7879A>G c.7775A>G (p.Tyr2592Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32362588A>T | CA387747092 | BRCA2 | c.7871A>T (p.Tyr2624Phe) c.7502A>T (p.Tyr2501Phe) c.338A>T (p.Tyr113Phe) c.7879A>T (p.Ile2627Leu) c.436A>T n.7879A>T c.7775A>T (p.Tyr2592Phe) | dbSNP |
13 | g.32362589T>A | CA387747094 | BRCA2 | c.7872T>A (p.Tyr2624Ter) c.7503T>A (p.Tyr2501Ter) c.339T>A (p.Tyr113Ter) c.7880T>A (p.Ile2627Lys) c.437T>A n.7880T>A c.7776T>A (p.Tyr2592Ter) | dbSNP |
13 | g.32362589T>C | CA10583136 | BRCA2 | c.7872T>C (p.Tyr2624=) c.7503T>C (p.Tyr2501=) c.339T>C (p.Tyr113=) c.7880T>C (p.Ile2627Thr) c.437T>C n.7880T>C c.7776T>C (p.Tyr2592=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362589T>G | CA339124 | BRCA2 | c.7872T>G (p.Tyr2624Ter) c.7503T>G (p.Tyr2501Ter) c.339T>G (p.Tyr113Ter) c.7880T>G (p.Ile2627Arg) c.437T>G n.7880T>G c.7776T>G (p.Tyr2592Ter) | ClinVar dbSNP |
13 | g.32362589T= | CA2082830969 | BRCA2 | c.7872T= (p.Tyr2624=) c.7503T= (p.Tyr2501=) c.339T= (p.Tyr113=) c.7880T= (p.Ile2627=) c.437T= n.7880T= c.7776T= (p.Tyr2592=) | |
13 | g.32362590A>C | CA483260903 | BRCA2 | c.7873A>C (p.Arg2625=) c.7504A>C (p.Arg2502=) c.340A>C (p.Arg114=) c.7881A>C (p.Ile2627=) c.438A>C n.7881A>C c.7777A>C (p.Arg2593=) | ClinVar dbSNP |
13 | g.32362590A>G | CA387747096 | BRCA2 | c.7873A>G (p.Arg2625Gly) c.7504A>G (p.Arg2502Gly) c.340A>G (p.Arg114Gly) c.7881A>G (p.Ile2627Met) c.438A>G n.7881A>G c.7777A>G (p.Arg2593Gly) | ClinVar dbSNP |
13 | g.32362590A>T | CA387747095 | BRCA2 | c.7873A>T (p.Arg2625Ter) c.7504A>T (p.Arg2502Ter) c.340A>T (p.Arg114Ter) c.7881A>T (p.Ile2627=) c.438A>T n.7881A>T c.7777A>T (p.Arg2593Ter) | |
13 | g.32362591G>A | CA348618 | BRCA2 | c.7874G>A (p.Arg2625Lys) c.7505G>A (p.Arg2502Lys) c.341G>A (p.Arg114Lys) c.7882G>A (p.Asp2628Asn) c.439G>A n.7882G>A c.7778G>A (p.Arg2593Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362591G>C | CA387747097 | BRCA2 | c.7874G>C (p.Arg2625Thr) c.7505G>C (p.Arg2502Thr) c.341G>C (p.Arg114Thr) c.7882G>C (p.Asp2628His) c.439G>C n.7882G>C c.7778G>C (p.Arg2593Thr) | dbSNP |
13 | g.32362591G= | CA2082830981 | BRCA2 | c.7874G= (p.Arg2625=) c.7505G= (p.Arg2502=) c.341G= (p.Arg114=) c.7882G= (p.Asp2628=) c.439G= n.7882G= c.7778G= (p.Arg2593=) | |
13 | g.32362591G>T | CA16619772 | BRCA2 | c.7874G>T (p.Arg2625Ile) c.7505G>T (p.Arg2502Ile) c.341G>T (p.Arg114Ile) c.7882G>T (p.Asp2628Tyr) c.439G>T n.7882G>T c.7778G>T (p.Arg2593Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32362592A>C | CA387747098 | BRCA2 | c.7875A>C (p.Arg2625Ser) c.7506A>C (p.Arg2502Ser) c.342A>C (p.Arg114Ser) c.7883A>C (p.Asp2628Ala) c.440A>C n.7883A>C c.7779A>C (p.Arg2593Ser) | |
13 | g.32362592A>G | CA483260908 | BRCA2 | c.7875A>G (p.Arg2625=) c.7506A>G (p.Arg2502=) c.342A>G (p.Arg114=) c.7883A>G (p.Asp2628Gly) c.440A>G n.7883A>G c.7779A>G (p.Arg2593=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362592A>T | CA387747099 | BRCA2 | c.7875A>T (p.Arg2625Ser) c.7506A>T (p.Arg2502Ser) c.342A>T (p.Arg114Ser) c.7883A>T (p.Asp2628Val) c.440A>T n.7883A>T c.7779A>T (p.Arg2593Ser) | ClinVar gnomAD v4 |
13 | g.32362592dup | CA915946881 | BRCA2 | c.7875dup (p.Trp2626MetfsTer15) c.7506dup (p.Trp2503MetfsTer15) c.342dup (p.Trp115MetfsTer15) c.7883dup (p.Asp2628GlufsTer?) c.440dup n.7883dup c.7779dup (p.Trp2594MetfsTer15) | ClinVar dbSNP |
13 | g.32362593T>A | CA16614217 | BRCA2 | c.7876T>A (p.Trp2626Arg) c.7507T>A (p.Trp2503Arg) c.343T>A (p.Trp115Arg) c.7884T>A (p.Asp2628Glu) c.441T>A n.7884T>A c.7780T>A (p.Trp2594Arg) | ClinVar dbSNP |
13 | g.32362593T>C | CA387747100 | BRCA2 | c.7876T>C (p.Trp2626Arg) c.7507T>C (p.Trp2503Arg) c.343T>C (p.Trp115Arg) c.7884T>C (p.Asp2628=) c.441T>C n.7884T>C c.7780T>C (p.Trp2594Arg) | ClinVar dbSNP |
13 | g.32362593T>G | CA387747101 | BRCA2 | c.7876T>G (p.Trp2626Gly) c.7507T>G (p.Trp2503Gly) c.343T>G (p.Trp115Gly) c.7884T>G (p.Asp2628Glu) c.441T>G n.7884T>G c.7780T>G (p.Trp2594Gly) | gnomAD v4 |
13 | g.32362593T= | CA2082831005 | BRCA2 | c.7876T= (p.Trp2626=) c.7507T= (p.Trp2503=) c.343T= (p.Trp115=) c.7884T= (p.Asp2628=) c.441T= n.7884T= c.7780T= (p.Trp2594=) | |
13 | g.32362593_32362594delinsTG | CA2082831012 | BRCA2 | c.7876_7877delinsTG (p.Trp2626=) c.7507_7508delinsTG (p.Trp2503=) c.343_344delinsTG (p.Trp115=) c.7884_7885delinsTG (p.Asp2628=) c.441_442delinsTG n.7884_7885delinsTG c.7780_7781delinsTG (p.Trp2594=) | |
13 | g.32362594G>A | CA025317 | BRCA2 | c.7877G>A (p.Trp2626Ter) c.7508G>A (p.Trp2503Ter) c.344G>A (p.Trp115Ter) c.7885G>A (p.Gly2629Arg) c.442G>A n.7885G>A c.7781G>A (p.Trp2594Ter) | ClinVar dbSNP |
13 | g.32362594G>C | CA387747102 | BRCA2 | c.7877G>C (p.Trp2626Ser) c.7508G>C (p.Trp2503Ser) c.344G>C (p.Trp115Ser) c.7885G>C (p.Gly2629Arg) c.442G>C n.7885G>C c.7781G>C (p.Trp2594Ser) | |
13 | g.32362594G= | CA2082831089 | BRCA2 | c.7877G= (p.Trp2626=) c.7508G= (p.Trp2503=) c.344G= (p.Trp115=) c.7885G= (p.Gly2629=) c.442G= n.7885G= c.7781G= (p.Trp2594=) | |
13 | g.32362594G>T | CA387747103 | BRCA2 | c.7877G>T (p.Trp2626Leu) c.7508G>T (p.Trp2503Leu) c.344G>T (p.Trp115Leu) c.7885G>T (p.Gly2629Ter) c.442G>T n.7885G>T c.7781G>T (p.Trp2594Leu) | COSMIC COSMIC |
13 | g.32362595del | CA658653812 | BRCA2 | c.7878del (p.Trp2626Ter) c.7509del (p.Trp2503Ter) c.345del (p.Trp115Ter) c.7886del (p.Gly2629AspfsTer14) c.443del n.7886del c.7782del (p.Trp2594Ter) | ClinVar dbSNP |
13 | g.32362595G>A | CA025318 | BRCA2 | c.7878G>A (p.Trp2626Ter) c.7509G>A (p.Trp2503Ter) c.345G>A (p.Trp115Ter) c.7886G>A (p.Gly2629Glu) c.443G>A n.7886G>A c.7782G>A (p.Trp2594Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362595G>C | CA025319 | BRCA2 | c.7878G>C (p.Trp2626Cys) c.7509G>C (p.Trp2503Cys) c.345G>C (p.Trp115Cys) c.7886G>C (p.Gly2629Ala) c.443G>C n.7886G>C c.7782G>C (p.Trp2594Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362595G= | CA2082831105 | BRCA2 | c.7878G= (p.Trp2626=) c.7509G= (p.Trp2503=) c.345G= (p.Trp115=) c.7886G= (p.Gly2629=) c.443G= n.7886G= c.7782G= (p.Trp2594=) | |
13 | g.32362595G>T | CA387747104 | BRCA2 | c.7878G>T (p.Trp2626Cys) c.7509G>T (p.Trp2503Cys) c.345G>T (p.Trp115Cys) c.7886G>T (p.Gly2629Val) c.443G>T n.7886G>T c.7782G>T (p.Trp2594Cys) | ClinVar dbSNP |
13 | g.32362595_32362598dup | CA10589455 | BRCA2 | c.7878_7881dup (p.Ile2628AspfsTer14) c.7509_7512dup (p.Ile2505AspfsTer14) c.345_348dup (p.Ile117AspfsTer14) c.7886_7889dup (p.Tyr2631IlefsTer?) c.443_446dup n.7886_7889dup c.7782_7785dup (p.Ile2596AspfsTer14) | ClinVar dbSNP |
13 | g.32362596A= | CA2082831118 | BRCA2 | c.7879A= (p.Ile2627=) c.7510A= (p.Ile2504=) c.346A= (p.Ile116=) c.7887A= (p.Gly2629=) c.444A= n.7887A= c.7783A= (p.Ile2595=) | |
13 | g.32362596A>C | CA387747105 | BRCA2 | c.7879A>C (p.Ile2627Leu) c.7510A>C (p.Ile2504Leu) c.346A>C (p.Ile116Leu) c.7887A>C (p.Gly2629=) c.444A>C n.7887A>C c.7783A>C (p.Ile2595Leu) | |
13 | g.32362596A>G | CA025320 | BRCA2 | c.7879A>G (p.Ile2627Val) c.7510A>G (p.Ile2504Val) c.346A>G (p.Ile116Val) c.7887A>G (p.Gly2629=) c.444A>G n.7887A>G c.7783A>G (p.Ile2595Val) | ClinVar dbSNP |
13 | g.32362596A>T | CA025321 | BRCA2 | c.7879A>T (p.Ile2627Phe) c.7510A>T (p.Ile2504Phe) c.346A>T (p.Ile116Phe) c.7887A>T (p.Gly2629=) c.444A>T n.7887A>T c.7783A>T (p.Ile2595Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32362597T>A | CA10579758 | BRCA2 | c.7880T>A (p.Ile2627Asn) c.7511T>A (p.Ile2504Asn) c.347T>A (p.Ile116Asn) c.7888T>A (p.Ser2630Thr) c.445T>A n.7888T>A c.7784T>A (p.Ile2595Asn) | ClinVar dbSNP |
13 | g.32362597T>C | CA387747106 | BRCA2 | c.7880T>C (p.Ile2627Thr) c.7511T>C (p.Ile2504Thr) c.347T>C (p.Ile116Thr) c.7888T>C (p.Ser2630Pro) c.445T>C n.7888T>C c.7784T>C (p.Ile2595Thr) | |
13 | g.32362597T>G | CA387747107 | BRCA2 | c.7880T>G (p.Ile2627Ser) c.7511T>G (p.Ile2504Ser) c.347T>G (p.Ile116Ser) c.7888T>G (p.Ser2630Ala) c.445T>G n.7888T>G c.7784T>G (p.Ile2595Ser) | ClinVar dbSNP |
13 | g.32362597T= | CA2082831148 | BRCA2 | c.7880T= (p.Ile2627=) c.7511T= (p.Ile2504=) c.347T= (p.Ile116=) c.7888T= (p.Ser2630=) c.445T= n.7888T= c.7784T= (p.Ile2595=) | |
13 | g.32362598C>A | CA483260915 | BRCA2 | c.7881C>A (p.Ile2627=) c.7512C>A (p.Ile2504=) c.348C>A (p.Ile116=) c.7889C>A (p.Ser2630Ter) c.446C>A n.7889C>A c.7785C>A (p.Ile2595=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362598C= | CA2082831160 | BRCA2 | c.7881C= (p.Ile2627=) c.7512C= (p.Ile2504=) c.348C= (p.Ile116=) c.7889C= (p.Ser2630=) c.446C= n.7889C= c.7785C= (p.Ile2595=) | |
13 | g.32362598C>G | CA387747108 | BRCA2 | c.7881C>G (p.Ile2627Met) c.7512C>G (p.Ile2504Met) c.348C>G (p.Ile116Met) c.7889C>G (p.Ser2630Ter) c.446C>G n.7889C>G c.7785C>G (p.Ile2595Met) | dbSNP |
13 | g.32362598C>T | CA483260916 | BRCA2 | c.7881C>T (p.Ile2627=) c.7512C>T (p.Ile2504=) c.348C>T (p.Ile116=) c.7889C>T (p.Ser2630Leu) c.446C>T n.7889C>T c.7785C>T (p.Ile2595=) | dbSNP |
13 | g.32362599A= | CA2082831167 | BRCA2 | c.7882A= (p.Ile2628=) c.7513A= (p.Ile2505=) c.349A= (p.Ile117=) c.7890A= (p.Ser2630=) c.447A= n.7890A= c.7786A= (p.Ile2596=) | |
13 | g.32362599A>C | CA387747109 | BRCA2 | c.7882A>C (p.Ile2628Leu) c.7513A>C (p.Ile2505Leu) c.349A>C (p.Ile117Leu) c.7890A>C (p.Ser2630=) c.447A>C n.7890A>C c.7786A>C (p.Ile2596Leu) | |
13 | g.32362599A>G | CA387747110 | BRCA2 | c.7882A>G (p.Ile2628Val) c.7513A>G (p.Ile2505Val) c.349A>G (p.Ile117Val) c.7890A>G (p.Ser2630=) c.447A>G n.7890A>G c.7786A>G (p.Ile2596Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362599A>T | CA387747111 | BRCA2 | c.7882A>T (p.Ile2628Leu) c.7513A>T (p.Ile2505Leu) c.349A>T (p.Ile117Leu) c.7890A>T (p.Ser2630=) c.447A>T n.7890A>T c.7786A>T (p.Ile2596Leu) | ClinVar dbSNP |
13 | g.32362600T>A | CA387747112 | BRCA2 | c.7883T>A (p.Ile2628Lys) c.7514T>A (p.Ile2505Lys) c.350T>A (p.Ile117Lys) c.7891T>A (p.Tyr2631Asn) c.448T>A n.7891T>A c.7787T>A (p.Ile2596Lys) | dbSNP |
13 | g.32362600T>C | CA10586080 | BRCA2 | c.7883T>C (p.Ile2628Thr) c.7514T>C (p.Ile2505Thr) c.350T>C (p.Ile117Thr) c.7891T>C (p.Tyr2631His) c.448T>C n.7891T>C c.7787T>C (p.Ile2596Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362600T>G | CA387747113 | BRCA2 | c.7883T>G (p.Ile2628Arg) c.7514T>G (p.Ile2505Arg) c.350T>G (p.Ile117Arg) c.7891T>G (p.Tyr2631Asp) c.448T>G n.7891T>G c.7787T>G (p.Ile2596Arg) | |
13 | g.32362600T= | CA2082831174 | BRCA2 | c.7883T= (p.Ile2628=) c.7514T= (p.Ile2505=) c.350T= (p.Ile117=) c.7891T= (p.Tyr2631=) c.448T= n.7891T= c.7787T= (p.Ile2596=) | |
13 | g.32362601A= | CA2082831184 | BRCA2 | c.7884A= (p.Ile2628=) c.7515A= (p.Ile2505=) c.351A= (p.Ile117=) c.7892A= (p.Tyr2631=) c.449A= n.7892A= c.7788A= (p.Ile2596=) | |
13 | g.32362601A>C | CA483260917 | BRCA2 | c.7884A>C (p.Ile2628=) c.7515A>C (p.Ile2505=) c.351A>C (p.Ile117=) c.7892A>C (p.Tyr2631Ser) c.449A>C n.7892A>C c.7788A>C (p.Ile2596=) | |
13 | g.32362601A>G | CA6941162 | BRCA2 | c.7884A>G (p.Ile2628Met) c.7515A>G (p.Ile2505Met) c.351A>G (p.Ile117Met) c.7892A>G (p.Tyr2631Cys) c.449A>G n.7892A>G c.7788A>G (p.Ile2596Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362601A>T | CA483260922 | BRCA2 | c.7884A>T (p.Ile2628=) c.7515A>T (p.Ile2505=) c.351A>T (p.Ile117=) c.7892A>T (p.Tyr2631Phe) c.449A>T n.7892A>T c.7788A>T (p.Ile2596=) | ClinVar dbSNP |
13 | g.32362601dup | CA025322 | BRCA2 | c.7884dup (p.Trp2629MetfsTer12) c.7515dup (p.Trp2506MetfsTer12) c.351dup (p.Trp118MetfsTer12) c.7892dup (p.Tyr2631Ter) c.449dup n.7892dup c.7788dup (p.Trp2597MetfsTer12) | ClinVar dbSNP gnomAD v4 |
13 | g.32362602T>A | CA387747116 | BRCA2 | c.7885T>A (p.Trp2629Arg) c.7516T>A (p.Trp2506Arg) c.352T>A (p.Trp118Arg) c.7893T>A (p.Tyr2631Ter) c.450T>A n.7893T>A c.7789T>A (p.Trp2597Arg) | |
13 | g.32362602T>C | CA387747114 | BRCA2 | c.7885T>C (p.Trp2629Arg) c.7516T>C (p.Trp2506Arg) c.352T>C (p.Trp118Arg) c.7893T>C (p.Tyr2631=) c.450T>C n.7893T>C c.7789T>C (p.Trp2597Arg) | ClinVar |
13 | g.32362602T>G | CA387747115 | BRCA2 | c.7885T>G (p.Trp2629Gly) c.7516T>G (p.Trp2506Gly) c.352T>G (p.Trp118Gly) c.7893T>G (p.Tyr2631Ter) c.450T>G n.7893T>G c.7789T>G (p.Trp2597Gly) | |
13 | g.32362603G>A | CA025323 | BRCA2 | c.7886G>A (p.Trp2629Ter) c.7517G>A (p.Trp2506Ter) c.353G>A (p.Trp118Ter) c.7894G>A (p.Gly2632Arg) c.451G>A n.7894G>A c.7790G>A (p.Trp2597Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32362603G>C | CA387747117 | BRCA2 | c.7886G>C (p.Trp2629Ser) c.7517G>C (p.Trp2506Ser) c.353G>C (p.Trp118Ser) c.7894G>C (p.Gly2632Arg) c.451G>C n.7894G>C c.7790G>C (p.Trp2597Ser) | dbSNP |
13 | g.32362603G= | CA2082831197 | BRCA2 | c.7886G= (p.Trp2629=) c.7517G= (p.Trp2506=) c.353G= (p.Trp118=) c.7894G= (p.Gly2632=) c.451G= n.7894G= c.7790G= (p.Trp2597=) | |
13 | g.32362603G>T | CA387747118 | BRCA2 | c.7886G>T (p.Trp2629Leu) c.7517G>T (p.Trp2506Leu) c.353G>T (p.Trp118Leu) c.7894G>T (p.Gly2632Ter) c.451G>T n.7894G>T c.7790G>T (p.Trp2597Leu) | |
13 | g.32362603_32362614del | CA2499222313 | BRCA2 | c.7886_7897del (p.Trp2629_Ala2633delinsSer) c.7517_7528del (p.Trp2506_Ala2510delinsSer) c.353_364del (p.Trp118_Ala122delinsSer) c.7894_7905del (p.Gly2632_Gln2635del) c.451_462del n.7894_7905del c.7790_7801del (p.Trp2597_Ala2601delinsSer) | ClinVar dbSNP |
13 | g.32362604G>A | CA10589456 | BRCA2 | c.7887G>A (p.Trp2629Ter) c.7518G>A (p.Trp2506Ter) c.354G>A (p.Trp118Ter) c.7895G>A (p.Gly2632Glu) c.452G>A n.7895G>A c.7791G>A (p.Trp2597Ter) | ClinVar dbSNP |
13 | g.32362604G>C | CA387747119 | BRCA2 | c.7887G>C (p.Trp2629Cys) c.7518G>C (p.Trp2506Cys) c.354G>C (p.Trp118Cys) c.7895G>C (p.Gly2632Ala) c.452G>C n.7895G>C c.7791G>C (p.Trp2597Cys) | dbSNP |
13 | g.32362604G= | CA2082831212 | BRCA2 | c.7887G= (p.Trp2629=) c.7518G= (p.Trp2506=) c.354G= (p.Trp118=) c.7895G= (p.Gly2632=) c.452G= n.7895G= c.7791G= (p.Trp2597=) | |
13 | g.32362604G>T | CA387747120 | BRCA2 | c.7887G>T (p.Trp2629Cys) c.7518G>T (p.Trp2506Cys) c.354G>T (p.Trp118Cys) c.7895G>T (p.Gly2632Val) c.452G>T n.7895G>T c.7791G>T (p.Trp2597Cys) | ClinVar dbSNP |
13 | g.32362605A= | CA2082831225 | BRCA2 | c.7888A= (p.Lys2630=) c.7519A= (p.Lys2507=) c.355A= (p.Lys119=) c.7896A= (p.Gly2632=) c.453A= n.7896A= c.7792A= (p.Lys2598=) | |
13 | g.32362605A>C | CA387747122 | BRCA2 | c.7888A>C (p.Lys2630Gln) c.7519A>C (p.Lys2507Gln) c.355A>C (p.Lys119Gln) c.7896A>C (p.Gly2632=) c.453A>C n.7896A>C c.7792A>C (p.Lys2598Gln) | ClinVar dbSNP |
13 | g.32362605A>G | CA387747123 | BRCA2 | c.7888A>G (p.Lys2630Glu) c.7519A>G (p.Lys2507Glu) c.355A>G (p.Lys119Glu) c.7896A>G (p.Gly2632=) c.453A>G n.7896A>G c.7792A>G (p.Lys2598Glu) | ClinVar dbSNP |
13 | g.32362605A>T | CA387747121 | BRCA2 | c.7888A>T (p.Lys2630Ter) c.7519A>T (p.Lys2507Ter) c.355A>T (p.Lys119Ter) c.7896A>T (p.Gly2632=) c.453A>T n.7896A>T c.7792A>T (p.Lys2598Ter) | |
13 | g.32362606_32362607dup | CA025324 | BRCA2 | c.7889_7890dup (p.Leu2631AsnfsTer18) c.7520_7521dup (p.Leu2508AsnfsTer18) c.356_357dup (p.Leu120AsnfsTer18) c.7897_7898dup (p.Asn2633LysfsTer11) c.454_455dup n.7897_7898dup c.7793_7794dup (p.Leu2599AsnfsTer18) | ClinVar dbSNP |
13 | g.32362606_32362607del | CA2837994591 | BRCA2 | c.7889_7890del (p.Lys2630ThrfsTer10) c.7520_7521del (p.Lys2507ThrfsTer10) c.356_357del (p.Lys119ThrfsTer10) c.7897_7898del (p.Asn2633LeufsTer?) c.454_455del n.7897_7898del c.7793_7794del (p.Lys2598ThrfsTer10) | |
13 | g.32362606A>C | CA387747124 | BRCA2 | c.7889A>C (p.Lys2630Thr) c.7520A>C (p.Lys2507Thr) c.356A>C (p.Lys119Thr) c.7897A>C (p.Asn2633His) c.454A>C n.7897A>C c.7793A>C (p.Lys2598Thr) | |
13 | g.32362606A>G | CA387747125 | BRCA2 | c.7889A>G (p.Lys2630Arg) c.7520A>G (p.Lys2507Arg) c.356A>G (p.Lys119Arg) c.7897A>G (p.Asn2633Asp) c.454A>G n.7897A>G c.7793A>G (p.Lys2598Arg) | gnomAD v4 COSMIC COSMIC |
13 | g.32362606A>T | CA387747126 | BRCA2 | c.7889A>T (p.Lys2630Ile) c.7520A>T (p.Lys2507Ile) c.356A>T (p.Lys119Ile) c.7897A>T (p.Asn2633Tyr) c.454A>T n.7897A>T c.7793A>T (p.Lys2598Ile) | dbSNP |
13 | g.32362607A= | CA2082831253 | BRCA2 | c.7890A= (p.Lys2630=) c.7521A= (p.Lys2507=) c.357A= (p.Lys119=) c.7898A= (p.Asn2633=) c.455A= n.7898A= c.7794A= (p.Lys2598=) | |
13 | g.32362607A>C | CA387747127 | BRCA2 | c.7890A>C (p.Lys2630Asn) c.7521A>C (p.Lys2507Asn) c.357A>C (p.Lys119Asn) c.7898A>C (p.Asn2633Thr) c.455A>C n.7898A>C c.7794A>C (p.Lys2598Asn) | ClinVar dbSNP |
13 | g.32362607A>G | CA483260928 | BRCA2 | c.7890A>G (p.Lys2630=) c.7521A>G (p.Lys2507=) c.357A>G (p.Lys119=) c.7898A>G (p.Asn2633Ser) c.455A>G n.7898A>G c.7794A>G (p.Lys2598=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362607A>T | CA387747128 | BRCA2 | c.7890A>T (p.Lys2630Asn) c.7521A>T (p.Lys2507Asn) c.357A>T (p.Lys119Asn) c.7898A>T (p.Asn2633Ile) c.455A>T n.7898A>T c.7794A>T (p.Lys2598Asn) | dbSNP |
13 | g.32362608_32362617dup | CA2825002143 | BRCA2 | c.7891_7900dup (p.Met2634ThrfsTer10) c.7522_7531dup (p.Met2511ThrfsTer10) c.358_367dup (p.Met123ThrfsTer10) c.7899_7908dup (p.Trp2637LeufsTer?) c.456_465dup n.7899_7908dup c.7795_7804dup (p.Met2602ThrfsTer10) | ClinVar |
13 | g.32362608C>A | CA10579759 | BRCA2 | c.7891C>A (p.Leu2631Met) c.7522C>A (p.Leu2508Met) c.358C>A (p.Leu120Met) c.7899C>A (p.Asn2633Lys) c.456C>A n.7899C>A c.7795C>A (p.Leu2599Met) | ClinVar dbSNP |
13 | g.32362608C= | CA2082831278 | BRCA2 | c.7891C= (p.Leu2631=) c.7522C= (p.Leu2508=) c.358C= (p.Leu120=) c.7899C= (p.Asn2633=) c.456C= n.7899C= c.7795C= (p.Leu2599=) | |
13 | g.32362608C>G | CA387747129 | BRCA2 | c.7891C>G (p.Leu2631Val) c.7522C>G (p.Leu2508Val) c.358C>G (p.Leu120Val) c.7899C>G (p.Asn2633Lys) c.456C>G n.7899C>G c.7795C>G (p.Leu2599Val) | dbSNP |
13 | g.32362608C>T | CA483260929 | BRCA2 | c.7891C>T (p.Leu2631=) c.7522C>T (p.Leu2508=) c.358C>T (p.Leu120=) c.7899C>T (p.Asn2633=) c.456C>T n.7899C>T c.7795C>T (p.Leu2599=) | ClinVar dbSNP |
13 | g.32362609T>A | CA387747132 | BRCA2 | c.7892T>A (p.Leu2631Gln) c.7523T>A (p.Leu2508Gln) c.359T>A (p.Leu120Gln) c.7900T>A (p.Trp2634Arg) c.457T>A n.7900T>A c.7796T>A (p.Leu2599Gln) | |
13 | g.32362609T>C | CA387747130 | BRCA2 | c.7892T>C (p.Leu2631Pro) c.7523T>C (p.Leu2508Pro) c.359T>C (p.Leu120Pro) c.7900T>C (p.Trp2634Arg) c.457T>C n.7900T>C c.7796T>C (p.Leu2599Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32362609T>G | CA387747131 | BRCA2 | c.7892T>G (p.Leu2631Arg) c.7523T>G (p.Leu2508Arg) c.359T>G (p.Leu120Arg) c.7900T>G (p.Trp2634Gly) c.457T>G n.7900T>G c.7796T>G (p.Leu2599Arg) | ClinVar dbSNP |
13 | g.32362609T= | CA2082831296 | BRCA2 | c.7892T= (p.Leu2631=) c.7523T= (p.Leu2508=) c.359T= (p.Leu120=) c.7900T= (p.Trp2634=) c.457T= n.7900T= c.7796T= (p.Leu2599=) | |
13 | g.32362610G>A | CA483260932 | BRCA2 | c.7893G>A (p.Leu2631=) c.7524G>A (p.Leu2508=) c.360G>A (p.Leu120=) c.7901G>A (p.Trp2634Ter) c.458G>A n.7901G>A c.7797G>A (p.Leu2599=) | dbSNP |
13 | g.32362610G>C | CA483260933 | BRCA2 | c.7893G>C (p.Leu2631=) c.7524G>C (p.Leu2508=) c.360G>C (p.Leu120=) c.7901G>C (p.Trp2634Ser) c.458G>C n.7901G>C c.7797G>C (p.Leu2599=) | dbSNP COSMIC COSMIC |
13 | g.32362610G>T | CA483260934 | BRCA2 | c.7893G>T (p.Leu2631=) c.7524G>T (p.Leu2508=) c.360G>T (p.Leu120=) c.7901G>T (p.Trp2634Leu) c.458G>T n.7901G>T c.7797G>T (p.Leu2599=) | dbSNP |
13 | g.32362611G>A | CA387747133 | BRCA2 | c.7894G>A (p.Ala2632Thr) c.7525G>A (p.Ala2509Thr) c.361G>A (p.Ala121Thr) c.7902G>A (p.Trp2634Ter) c.459G>A n.7902G>A c.7798G>A (p.Ala2600Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362611G>C | CA387747134 | BRCA2 | c.7894G>C (p.Ala2632Pro) c.7525G>C (p.Ala2509Pro) c.361G>C (p.Ala121Pro) c.7902G>C (p.Trp2634Cys) c.459G>C n.7902G>C c.7798G>C (p.Ala2600Pro) | dbSNP |
13 | g.32362611G= | CA2082831308 | BRCA2 | c.7894G= (p.Ala2632=) c.7525G= (p.Ala2509=) c.361G= (p.Ala121=) c.7902G= (p.Trp2634=) c.459G= n.7902G= c.7798G= (p.Ala2600=) | |
13 | g.32362611G>T | CA387747135 | BRCA2 | c.7894G>T (p.Ala2632Ser) c.7525G>T (p.Ala2509Ser) c.361G>T (p.Ala121Ser) c.7902G>T (p.Trp2634Cys) c.459G>T n.7902G>T c.7798G>T (p.Ala2600Ser) | dbSNP COSMIC COSMIC |
13 | g.32362612del | CA2695217943 | BRCA2 | c.7895del (p.Ala2632GlufsTer16) c.7526del (p.Ala2509GlufsTer16) c.362del (p.Ala121GlufsTer16) c.7903del (p.Gln2635SerfsTer8) c.460del n.7903del c.7799del (p.Ala2600GlufsTer16) | |
13 | g.32362612C>A | CA387747136 | BRCA2 | c.7895C>A (p.Ala2632Glu) c.7526C>A (p.Ala2509Glu) c.362C>A (p.Ala121Glu) c.7903C>A (p.Gln2635Lys) c.460C>A n.7903C>A c.7799C>A (p.Ala2600Glu) | dbSNP |
13 | g.32362612C= | CA2082831317 | BRCA2 | c.7895C= (p.Ala2632=) c.7526C= (p.Ala2509=) c.362C= (p.Ala121=) c.7903C= (p.Gln2635=) c.460C= n.7903C= c.7799C= (p.Ala2600=) | |
13 | g.32362612C>G | CA247475168 | BRCA2 | c.7895C>G (p.Ala2632Gly) c.7526C>G (p.Ala2509Gly) c.362C>G (p.Ala121Gly) c.7903C>G (p.Gln2635Glu) c.460C>G n.7903C>G c.7799C>G (p.Ala2600Gly) | ClinVar dbSNP |
13 | g.32362612C>T | CA387747137 | BRCA2 | c.7895C>T (p.Ala2632Val) c.7526C>T (p.Ala2509Val) c.362C>T (p.Ala121Val) c.7903C>T (p.Gln2635Ter) c.460C>T n.7903C>T c.7799C>T (p.Ala2600Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32362612dup | CA2573149359 | BRCA2 | c.7895dup (p.Ala2633SerfsTer8) c.7526dup (p.Ala2510SerfsTer8) c.362dup (p.Ala122SerfsTer8) c.7903dup (p.Gln2635ProfsTer?) c.460dup n.7903dup c.7799dup (p.Ala2601SerfsTer8) | ClinVar dbSNP |
13 | g.32362613A>C | CA483260936 | BRCA2 | c.7896A>C (p.Ala2632=) c.7527A>C (p.Ala2509=) c.363A>C (p.Ala121=) c.7904A>C (p.Gln2635Pro) c.461A>C n.7904A>C c.7800A>C (p.Ala2600=) | |
13 | g.32362613A>G | CA483260937 | BRCA2 | c.7896A>G (p.Ala2632=) c.7527A>G (p.Ala2509=) c.363A>G (p.Ala121=) c.7904A>G (p.Gln2635Arg) c.461A>G n.7904A>G c.7800A>G (p.Ala2600=) | dbSNP |
13 | g.32362613A>T | CA483260938 | BRCA2 | c.7896A>T (p.Ala2632=) c.7527A>T (p.Ala2509=) c.363A>T (p.Ala121=) c.7904A>T (p.Gln2635Leu) c.461A>T n.7904A>T c.7800A>T (p.Ala2600=) | dbSNP gnomAD v4 |
13 | g.32362614G>A | CA387747138 | BRCA2 | c.7897G>A (p.Ala2633Thr) c.7528G>A (p.Ala2510Thr) c.364G>A (p.Ala122Thr) c.7905G>A (p.Gln2635=) c.462G>A n.7905G>A c.7801G>A (p.Ala2601Thr) | dbSNP |
13 | g.32362614G>C | CA387747139 | BRCA2 | c.7897G>C (p.Ala2633Pro) c.7528G>C (p.Ala2510Pro) c.364G>C (p.Ala122Pro) c.7905G>C (p.Gln2635His) c.462G>C n.7905G>C c.7801G>C (p.Ala2601Pro) | dbSNP |
13 | g.32362614G= | CA2082831329 | BRCA2 | c.7897G= (p.Ala2633=) c.7528G= (p.Ala2510=) c.364G= (p.Ala122=) c.7905G= (p.Gln2635=) c.462G= n.7905G= c.7801G= (p.Ala2601=) | |
13 | g.32362614G>T | CA025325 | BRCA2 | c.7897G>T (p.Ala2633Ser) c.7528G>T (p.Ala2510Ser) c.364G>T (p.Ala122Ser) c.7905G>T (p.Gln2635His) c.462G>T n.7905G>T c.7801G>T (p.Ala2601Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362615C>A | CA387747140 | BRCA2 | c.7898C>A (p.Ala2633Asp) c.7529C>A (p.Ala2510Asp) c.365C>A (p.Ala122Asp) c.7906C>A (p.Leu2636Ile) c.463C>A n.7906C>A c.7802C>A (p.Ala2601Asp) | dbSNP |
13 | g.32362615C= | CA2082831341 | BRCA2 | c.7898C= (p.Ala2633=) c.7529C= (p.Ala2510=) c.365C= (p.Ala122=) c.7906C= (p.Leu2636=) c.463C= n.7906C= c.7802C= (p.Ala2601=) | |
13 | g.32362615C>G | CA387747142 | BRCA2 | c.7898C>G (p.Ala2633Gly) c.7529C>G (p.Ala2510Gly) c.365C>G (p.Ala122Gly) c.7906C>G (p.Leu2636Val) c.463C>G n.7906C>G c.7802C>G (p.Ala2601Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32362615C>T | CA387747141 | BRCA2 | c.7898C>T (p.Ala2633Val) c.7529C>T (p.Ala2510Val) c.365C>T (p.Ala122Val) c.7906C>T (p.Leu2636=) c.463C>T n.7906C>T c.7802C>T (p.Ala2601Val) | ClinVar dbSNP |
13 | g.32362618_32362635del | CA2573149360 | BRCA2 | c.7901_7918del (p.Met2634_Pro2639del) c.7532_7549del (p.Met2511_Pro2516del) c.368_385del (p.Met123_Pro128del) c.7909_7926del (p.Trp2637_Leu2642del) c.466_483del n.7909_7926del c.7805_7822del (p.Met2602_Pro2607del) | ClinVar dbSNP |
13 | g.32362616T>A | CA483260940 | BRCA2 | c.7899T>A (p.Ala2633=) c.7530T>A (p.Ala2510=) c.366T>A (p.Ala122=) c.7907T>A (p.Leu2636Gln) c.464T>A n.7907T>A c.7803T>A (p.Ala2601=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362616T>C | CA483260941 | BRCA2 | c.7899T>C (p.Ala2633=) c.7530T>C (p.Ala2510=) c.366T>C (p.Ala122=) c.7907T>C (p.Leu2636Pro) c.464T>C n.7907T>C c.7803T>C (p.Ala2601=) | dbSNP |
13 | g.32362616T>G | CA483260939 | BRCA2 | c.7899T>G (p.Ala2633=) c.7530T>G (p.Ala2510=) c.366T>G (p.Ala122=) c.7907T>G (p.Leu2636Arg) c.464T>G n.7907T>G c.7803T>G (p.Ala2601=) | ClinVar dbSNP |
13 | g.32362616T= | CA2082831357 | BRCA2 | c.7899T= (p.Ala2633=) c.7530T= (p.Ala2510=) c.366T= (p.Ala122=) c.7907T= (p.Leu2636=) c.464T= n.7907T= c.7803T= (p.Ala2601=) | |
13 | g.32362616_32362617delinsTA | CA2082831360 | BRCA2 | c.7899_7900delinsTA (p.Ala2633=) c.7530_7531delinsTA (p.Ala2510=) c.366_367delinsTA (p.Ala122=) c.7907_7908delinsTA (p.Leu2636=) c.464_465delinsTA n.7907_7908delinsTA c.7803_7804delinsTA (p.Ala2601=) | |
13 | g.32362617del | CA658761192 | BRCA2 | c.7900del (p.Met2634TrpfsTer14) c.7531del (p.Met2511TrpfsTer14) c.367del (p.Met123TrpfsTer14) c.7908del (p.Trp2637GlyfsTer6) c.465del n.7908del c.7804del (p.Met2602TrpfsTer14) | ClinVar dbSNP |
13 | g.32362617A= | CA2082831368 | BRCA2 | c.7900A= (p.Met2634=) c.7531A= (p.Met2511=) c.367A= (p.Met123=) c.7908A= (p.Leu2636=) c.465A= n.7908A= c.7804A= (p.Met2602=) | |
13 | g.32362617A>C | CA387747143 | BRCA2 | c.7900A>C (p.Met2634Leu) c.7531A>C (p.Met2511Leu) c.367A>C (p.Met123Leu) c.7908A>C (p.Leu2636=) c.465A>C n.7908A>C c.7804A>C (p.Met2602Leu) | |
13 | g.32362617A>G | CA387747144 | BRCA2 | c.7900A>G (p.Met2634Val) c.7531A>G (p.Met2511Val) c.367A>G (p.Met123Val) c.7908A>G (p.Leu2636=) c.465A>G n.7908A>G c.7804A>G (p.Met2602Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362617A>T | CA387747145 | BRCA2 | c.7900A>T (p.Met2634Leu) c.7531A>T (p.Met2511Leu) c.367A>T (p.Met123Leu) c.7908A>T (p.Leu2636=) c.465A>T n.7908A>T c.7804A>T (p.Met2602Leu) | dbSNP |
13 | g.32362618T>A | CA387747146 | BRCA2 | c.7901T>A (p.Met2634Lys) c.7532T>A (p.Met2511Lys) c.368T>A (p.Met123Lys) c.7909T>A (p.Trp2637Arg) c.466T>A n.7909T>A c.7805T>A (p.Met2602Lys) | ClinVar dbSNP gnomAD v2 |
13 | g.32362618T>C | CA025326 | BRCA2 | c.7901T>C (p.Met2634Thr) c.7532T>C (p.Met2511Thr) c.368T>C (p.Met123Thr) c.7909T>C (p.Trp2637Arg) c.466T>C n.7909T>C c.7805T>C (p.Met2602Thr) | ClinVar dbSNP |
13 | g.32362618T>G | CA387747147 | BRCA2 | c.7901T>G (p.Met2634Arg) c.7532T>G (p.Met2511Arg) c.368T>G (p.Met123Arg) c.7909T>G (p.Trp2637Gly) c.466T>G n.7909T>G c.7805T>G (p.Met2602Arg) | |
13 | g.32362618T= | CA2082831390 | BRCA2 | c.7901T= (p.Met2634=) c.7532T= (p.Met2511=) c.368T= (p.Met123=) c.7909T= (p.Trp2637=) c.466T= n.7909T= c.7805T= (p.Met2602=) | |
13 | g.32362618_32362619del | CA1139770834 | BRCA2 | c.7901_7902del (p.Met2634ArgfsTer6) c.7532_7533del (p.Met2511ArgfsTer6) c.368_369del (p.Met123ArgfsTer6) c.7909_7910del (p.Trp2637GlufsTer?) c.466_467del n.7909_7910del c.7805_7806del (p.Met2602ArgfsTer6) | |
13 | g.32362619G>A | CA387747148 | BRCA2 | c.7902G>A (p.Met2634Ile) c.7533G>A (p.Met2511Ile) c.369G>A (p.Met123Ile) c.7910G>A (p.Trp2637Ter) c.467G>A n.7910G>A c.7806G>A (p.Met2602Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362619G>C | CA387747149 | BRCA2 | c.7902G>C (p.Met2634Ile) c.7533G>C (p.Met2511Ile) c.369G>C (p.Met123Ile) c.7910G>C (p.Trp2637Ser) c.467G>C n.7910G>C c.7806G>C (p.Met2602Ile) | dbSNP |
13 | g.32362619G= | CA2082831402 | BRCA2 | c.7902G= (p.Met2634=) c.7533G= (p.Met2511=) c.369G= (p.Met123=) c.7910G= (p.Trp2637=) c.467G= n.7910G= c.7806G= (p.Met2602=) | |
13 | g.32362619G>T | CA387747150 | BRCA2 | c.7902G>T (p.Met2634Ile) c.7533G>T (p.Met2511Ile) c.369G>T (p.Met123Ile) c.7910G>T (p.Trp2637Leu) c.467G>T n.7910G>T c.7806G>T (p.Met2602Ile) | |
13 | g.32362619_32362620delinsGG | CA2082831407 | BRCA2 | c.7902_7903delinsGG (p.Met2634=) c.7533_7534delinsGG (p.Met2511=) c.369_370delinsGG (p.Met123=) c.7910_7911delinsGG (p.Trp2637=) c.467_468delinsGG n.7910_7911delinsGG c.7806_7807delinsGG (p.Met2602=) | |
13 | g.32362619_32362620delinsTT | CA915946882 | BRCA2 | c.7902_7903delinsTT (p.Met2634IlefsTer2) c.7533_7534delinsTT (p.Met2511IlefsTer2) c.369_370delinsTT (p.Met123IlefsTer2) c.7910_7911delinsTT (p.Trp2637Phe) c.467_468delinsTT n.7910_7911delinsTT c.7806_7807delinsTT (p.Met2602IlefsTer2) | ClinVar dbSNP |
13 | g.32362620G>A | CA387747151 | BRCA2 | c.7903G>A (p.Glu2635Lys) c.7534G>A (p.Glu2512Lys) c.370G>A (p.Glu124Lys) c.7911G>A (p.Trp2637Ter) c.468G>A n.7911G>A c.7807G>A (p.Glu2603Lys) | ClinVar dbSNP |
13 | g.32362620G>C | CA387747152 | BRCA2 | c.7903G>C (p.Glu2635Gln) c.7534G>C (p.Glu2512Gln) c.370G>C (p.Glu124Gln) c.7911G>C (p.Trp2637Cys) c.468G>C n.7911G>C c.7807G>C (p.Glu2603Gln) | dbSNP gnomAD v4 |
13 | g.32362620G>T | CA387747153 | BRCA2 | c.7903G>T (p.Glu2635Ter) c.7534G>T (p.Glu2512Ter) c.370G>T (p.Glu124Ter) c.7911G>T (p.Trp2637Cys) c.468G>T n.7911G>T c.7807G>T (p.Glu2603Ter) | ClinVar dbSNP |
13 | g.32362621A>C | CA387747156 | BRCA2 | c.7904A>C (p.Glu2635Ala) c.7535A>C (p.Glu2512Ala) c.371A>C (p.Glu124Ala) c.7912A>C (p.Asn2638His) c.469A>C n.7912A>C c.7808A>C (p.Glu2603Ala) | |
13 | g.32362621A>G | CA387747154 | BRCA2 | c.7904A>G (p.Glu2635Gly) c.7535A>G (p.Glu2512Gly) c.371A>G (p.Glu124Gly) c.7912A>G (p.Asn2638Asp) c.469A>G n.7912A>G c.7808A>G (p.Glu2603Gly) | COSMIC COSMIC |
13 | g.32362621A>T | CA387747155 | BRCA2 | c.7904A>T (p.Glu2635Val) c.7535A>T (p.Glu2512Val) c.371A>T (p.Glu124Val) c.7912A>T (p.Asn2638Tyr) c.469A>T n.7912A>T c.7808A>T (p.Glu2603Val) | dbSNP |
13 | g.32362622dup | CA2695217944 | BRCA2 | c.7905dup (p.Cys2636MetfsTer5) c.7536dup (p.Cys2513MetfsTer5) c.372dup (p.Cys125MetfsTer5) c.7913dup (p.Asn2638LysfsTer?) c.470dup n.7913dup c.7809dup (p.Cys2604MetfsTer5) | |
13 | g.32362622A= | CA2082831414 | BRCA2 | c.7905A= (p.Glu2635=) c.7536A= (p.Glu2512=) c.372A= (p.Glu124=) c.7913A= (p.Asn2638=) c.470A= n.7913A= c.7809A= (p.Glu2603=) | |
13 | g.32362622A>C | CA387747157 | BRCA2 | c.7905A>C (p.Glu2635Asp) c.7536A>C (p.Glu2512Asp) c.372A>C (p.Glu124Asp) c.7913A>C (p.Asn2638Thr) c.470A>C n.7913A>C c.7809A>C (p.Glu2603Asp) | |
13 | g.32362622A>G | CA483260945 | BRCA2 | c.7905A>G (p.Glu2635=) c.7536A>G (p.Glu2512=) c.372A>G (p.Glu124=) c.7913A>G (p.Asn2638Ser) c.470A>G n.7913A>G c.7809A>G (p.Glu2603=) | ClinVar dbSNP |
13 | g.32362622A>T | CA10586081 | BRCA2 | c.7905A>T (p.Glu2635Asp) c.7536A>T (p.Glu2512Asp) c.372A>T (p.Glu124Asp) c.7913A>T (p.Asn2638Ile) c.470A>T n.7913A>T c.7809A>T (p.Glu2603Asp) | ClinVar dbSNP |
13 | g.32362623T>A | CA387747158 | BRCA2 | c.7906T>A (p.Cys2636Ser) c.7537T>A (p.Cys2513Ser) c.373T>A (p.Cys125Ser) c.7914T>A (p.Asn2638Lys) c.471T>A n.7914T>A c.7810T>A (p.Cys2604Ser) | dbSNP |
13 | g.32362623T>C | CA387747159 | BRCA2 | c.7906T>C (p.Cys2636Arg) c.7537T>C (p.Cys2513Arg) c.373T>C (p.Cys125Arg) c.7914T>C (p.Asn2638=) c.471T>C n.7914T>C c.7810T>C (p.Cys2604Arg) | ClinVar dbSNP |
13 | g.32362623T>G | CA387747160 | BRCA2 | c.7906T>G (p.Cys2636Gly) c.7537T>G (p.Cys2513Gly) c.373T>G (p.Cys125Gly) c.7914T>G (p.Asn2638Lys) c.471T>G n.7914T>G c.7810T>G (p.Cys2604Gly) | dbSNP |
13 | g.32362623T= | CA2082831421 | BRCA2 | c.7906T= (p.Cys2636=) c.7537T= (p.Cys2513=) c.373T= (p.Cys125=) c.7914T= (p.Asn2638=) c.471T= n.7914T= c.7810T= (p.Cys2604=) | |
13 | g.32362624del | CA2580087412 | BRCA2 | c.7907del (p.Cys2636LeufsTer12) c.7538del (p.Cys2513LeufsTer12) c.374del (p.Cys125LeufsTer12) c.7915del (p.Val2639CysfsTer4) c.472del n.7915del c.7811del (p.Cys2604LeufsTer12) | ClinVar |
13 | g.32362624G>A | CA387747161 | BRCA2 | c.7907G>A (p.Cys2636Tyr) c.7538G>A (p.Cys2513Tyr) c.374G>A (p.Cys125Tyr) c.7915G>A (p.Val2639Met) c.472G>A n.7915G>A c.7811G>A (p.Cys2604Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362624G>C | CA387747162 | BRCA2 | c.7907G>C (p.Cys2636Ser) c.7538G>C (p.Cys2513Ser) c.374G>C (p.Cys125Ser) c.7915G>C (p.Val2639Leu) c.472G>C n.7915G>C c.7811G>C (p.Cys2604Ser) | dbSNP |
13 | g.32362624G>T | CA387747163 | BRCA2 | c.7907G>T (p.Cys2636Phe) c.7538G>T (p.Cys2513Phe) c.374G>T (p.Cys125Phe) c.7915G>T (p.Val2639Leu) c.472G>T n.7915G>T c.7811G>T (p.Cys2604Phe) | dbSNP |
13 | g.32362625T>A | CA025327 | BRCA2 | c.7908T>A (p.Cys2636Ter) c.7539T>A (p.Cys2513Ter) c.375T>A (p.Cys125Ter) c.7916T>A (p.Val2639Glu) c.473T>A n.7916T>A c.7812T>A (p.Cys2604Ter) | ClinVar dbSNP |
13 | g.32362625T>C | CA483260950 | BRCA2 | c.7908T>C (p.Cys2636=) c.7539T>C (p.Cys2513=) c.375T>C (p.Cys125=) c.7916T>C (p.Val2639Ala) c.473T>C n.7916T>C c.7812T>C (p.Cys2604=) | ClinVar |
13 | g.32362625T>G | CA387747164 | BRCA2 | c.7908T>G (p.Cys2636Trp) c.7539T>G (p.Cys2513Trp) c.375T>G (p.Cys125Trp) c.7916T>G (p.Val2639Gly) c.473T>G n.7916T>G c.7812T>G (p.Cys2604Trp) | dbSNP |
13 | g.32362625T= | CA2082831444 | BRCA2 | c.7908T= (p.Cys2636=) c.7539T= (p.Cys2513=) c.375T= (p.Cys125=) c.7916T= (p.Val2639=) c.473T= n.7916T= c.7812T= (p.Cys2604=) | |
13 | g.32362626G>A | CA387747167 | BRCA2 | c.7909G>A (p.Ala2637Thr) c.7540G>A (p.Ala2514Thr) c.376G>A (p.Ala126Thr) c.7917G>A (p.Val2639=) c.474G>A n.7917G>A c.7813G>A (p.Ala2605Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362626G>C | CA387747166 | BRCA2 | c.7909G>C (p.Ala2637Pro) c.7540G>C (p.Ala2514Pro) c.376G>C (p.Ala126Pro) c.7917G>C (p.Val2639=) c.474G>C n.7917G>C c.7813G>C (p.Ala2605Pro) | ClinVar dbSNP |
13 | g.32362626G= | CA2082831459 | BRCA2 | c.7909G= (p.Ala2637=) c.7540G= (p.Ala2514=) c.376G= (p.Ala126=) c.7917G= (p.Val2639=) c.474G= n.7917G= c.7813G= (p.Ala2605=) | |
13 | g.32362626G>T | CA387747165 | BRCA2 | c.7909G>T (p.Ala2637Ser) c.7540G>T (p.Ala2514Ser) c.376G>T (p.Ala126Ser) c.7917G>T (p.Val2639=) c.474G>T n.7917G>T c.7813G>T (p.Ala2605Ser) | |
13 | g.32362626_32362631delinsGCCTTT | CA2082831455 | BRCA2 | c.7909_7914delinsGCCTTT (p.Ala2637=) c.7540_7545delinsGCCTTT (p.Ala2514=) c.376_381delinsGCCTTT (p.Ala126=) c.7917_7922delinsGCCTTT (p.Val2639=) c.474_479delinsGCCTTT n.7917_7922delinsGCCTTT c.7813_7818delinsGCCTTT (p.Ala2605=) | |
13 | g.32362627C>A | CA387747168 | BRCA2 | c.7910C>A (p.Ala2637Asp) c.7541C>A (p.Ala2514Asp) c.377C>A (p.Ala126Asp) c.7918C>A (p.Pro2640Thr) c.475C>A n.7918C>A c.7814C>A (p.Ala2605Asp) | dbSNP |
13 | g.32362627C= | CA2082831471 | BRCA2 | c.7910C= (p.Ala2637=) c.7541C= (p.Ala2514=) c.377C= (p.Ala126=) c.7918C= (p.Pro2640=) c.475C= n.7918C= c.7814C= (p.Ala2605=) | |
13 | g.32362627C>G | CA387747169 | BRCA2 | c.7910C>G (p.Ala2637Gly) c.7541C>G (p.Ala2514Gly) c.377C>G (p.Ala126Gly) c.7918C>G (p.Pro2640Ala) c.475C>G n.7918C>G c.7814C>G (p.Ala2605Gly) | dbSNP |
13 | g.32362627C>T | CA025329 | BRCA2 | c.7910C>T (p.Ala2637Val) c.7541C>T (p.Ala2514Val) c.377C>T (p.Ala126Val) c.7918C>T (p.Pro2640Ser) c.475C>T n.7918C>T c.7814C>T (p.Ala2605Val) | ClinVar dbSNP |
13 | g.32362630_32362634del | CA025328 | BRCA2 | c.7913_7917del (p.Phe2638Ter) c.7544_7548del (p.Phe2515Ter) c.380_384del (p.Phe127Ter) c.7921_7925del (p.Phe2641LysfsTer?) c.478_482del n.7921_7925del c.7817_7821del (p.Phe2606Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32362627_32362628insGAAA | CA658823757 | BRCA2 | c.7910_7911insGAAA (p.Phe2638LysfsTer4) c.7541_7542insGAAA (p.Phe2515LysfsTer4) c.377_378insGAAA (p.Phe127LysfsTer4) c.7918_7919insGAAA (p.Pro2640ArgfsTer?) c.475_476insGAAA n.7918_7919insGAAA c.7814_7815insGAAA (p.Phe2606LysfsTer4) | ClinVar dbSNP |
13 | g.32362628C>A | CA483260956 | BRCA2 | c.7911C>A (p.Ala2637=) c.7542C>A (p.Ala2514=) c.378C>A (p.Ala126=) c.7919C>A (p.Pro2640His) c.476C>A n.7919C>A c.7815C>A (p.Ala2605=) | |
13 | g.32362628C= | CA2082831481 | BRCA2 | c.7911C= (p.Ala2637=) c.7542C= (p.Ala2514=) c.378C= (p.Ala126=) c.7919C= (p.Pro2640=) c.476C= n.7919C= c.7815C= (p.Ala2605=) | |
13 | g.32362628C>G | CA483260957 | BRCA2 | c.7911C>G (p.Ala2637=) c.7542C>G (p.Ala2514=) c.378C>G (p.Ala126=) c.7919C>G (p.Pro2640Arg) c.476C>G n.7919C>G c.7815C>G (p.Ala2605=) | |
13 | g.32362628C>T | CA483260958 | BRCA2 | c.7911C>T (p.Ala2637=) c.7542C>T (p.Ala2514=) c.378C>T (p.Ala126=) c.7919C>T (p.Pro2640Leu) c.476C>T n.7919C>T c.7815C>T (p.Ala2605=) | ClinVar |
13 | g.32362628_32362629delinsCT | CA2082831478 | BRCA2 | c.7911_7912delinsCT (p.Ala2637=) c.7542_7543delinsCT (p.Ala2514=) c.378_379delinsCT (p.Ala126=) c.7919_7920delinsCT (p.Pro2640=) c.476_477delinsCT n.7919_7920delinsCT c.7815_7816delinsCT (p.Ala2605=) | |
13 | g.32362628_32362629insGAAA | CA10589457 | BRCA2 | c.7911_7912insGAAA (p.Phe2638GlufsTer4) c.7542_7543insGAAA (p.Phe2515GlufsTer4) c.378_379insGAAA (p.Phe127GlufsTer4) c.7919_7920insGAAA (p.Phe2641LysfsTer?) c.476_477insGAAA n.7919_7920insGAAA c.7815_7816insGAAA (p.Phe2606GlufsTer4) | ClinVar dbSNP |
13 | g.32362629T>A | CA387747171 | BRCA2 | c.7912T>A (p.Phe2638Ile) c.7543T>A (p.Phe2515Ile) c.379T>A (p.Phe127Ile) c.7920T>A (p.Pro2640=) c.477T>A n.7920T>A c.7816T>A (p.Phe2606Ile) | dbSNP |
13 | g.32362629T>C | CA10579760 | BRCA2 | c.7912T>C (p.Phe2638Leu) c.7543T>C (p.Phe2515Leu) c.379T>C (p.Phe127Leu) c.7920T>C (p.Pro2640=) c.477T>C n.7920T>C c.7816T>C (p.Phe2606Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32362629T>G | CA387747170 | BRCA2 | c.7912T>G (p.Phe2638Val) c.7543T>G (p.Phe2515Val) c.379T>G (p.Phe127Val) c.7920T>G (p.Pro2640=) c.477T>G n.7920T>G c.7816T>G (p.Phe2606Val) | ClinVar dbSNP |
13 | g.32362629T= | CA2082831499 | BRCA2 | c.7912T= (p.Phe2638=) c.7543T= (p.Phe2515=) c.379T= (p.Phe127=) c.7920T= (p.Pro2640=) c.477T= n.7920T= c.7816T= (p.Phe2606=) | |
13 | g.32362631del | CA10585935 | BRCA2 | c.7914del (p.Pro2639LeufsTer9) c.7545del (p.Pro2516LeufsTer9) c.381del (p.Pro128LeufsTer9) c.7922del (p.Phe2641SerfsTer2) c.479del n.7922del c.7818del (p.Pro2607LeufsTer9) | ClinVar dbSNP |
13 | g.32362630T>A | CA387747172 | BRCA2 | c.7913T>A (p.Phe2638Tyr) c.7544T>A (p.Phe2515Tyr) c.380T>A (p.Phe127Tyr) c.7921T>A (p.Phe2641Ile) c.478T>A n.7921T>A c.7817T>A (p.Phe2606Tyr) | dbSNP |
13 | g.32362630T>C | CA387747173 | BRCA2 | c.7913T>C (p.Phe2638Ser) c.7544T>C (p.Phe2515Ser) c.380T>C (p.Phe127Ser) c.7921T>C (p.Phe2641Leu) c.478T>C n.7921T>C c.7817T>C (p.Phe2606Ser) | |
13 | g.32362630T>G | CA387747174 | BRCA2 | c.7913T>G (p.Phe2638Cys) c.7544T>G (p.Phe2515Cys) c.380T>G (p.Phe127Cys) c.7921T>G (p.Phe2641Val) c.478T>G n.7921T>G c.7817T>G (p.Phe2606Cys) | |
13 | g.32362631T>A | CA387747175 | BRCA2 | c.7914T>A (p.Phe2638Leu) c.7545T>A (p.Phe2515Leu) c.381T>A (p.Phe127Leu) c.7922T>A (p.Phe2641Tyr) c.479T>A n.7922T>A c.7818T>A (p.Phe2606Leu) | |
13 | g.32362631T>C | CA483260961 | BRCA2 | c.7914T>C (p.Phe2638=) c.7545T>C (p.Phe2515=) c.381T>C (p.Phe127=) c.7922T>C (p.Phe2641Ser) c.479T>C n.7922T>C c.7818T>C (p.Phe2606=) | |
13 | g.32362631T>G | CA025332 | BRCA2 | c.7914T>G (p.Phe2638Leu) c.7545T>G (p.Phe2515Leu) c.381T>G (p.Phe127Leu) c.7922T>G (p.Phe2641Cys) c.479T>G n.7922T>G c.7818T>G (p.Phe2606Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362631T= | CA2082831520 | BRCA2 | c.7914T= (p.Phe2638=) c.7545T= (p.Phe2515=) c.381T= (p.Phe127=) c.7922T= (p.Phe2641=) c.479T= n.7922T= c.7818T= (p.Phe2606=) | |
13 | g.32362632C>A | CA025333 | BRCA2 | c.7915C>A (p.Pro2639Thr) c.7546C>A (p.Pro2516Thr) c.382C>A (p.Pro128Thr) c.7923C>A (p.Phe2641Leu) c.480C>A n.7923C>A c.7819C>A (p.Pro2607Thr) | ClinVar dbSNP |
13 | g.32362632C= | CA2082831569 | BRCA2 | c.7915C= (p.Pro2639=) c.7546C= (p.Pro2516=) c.382C= (p.Pro128=) c.7923C= (p.Phe2641=) c.480C= n.7923C= c.7819C= (p.Pro2607=) | |
13 | g.32362632C>G | CA025334 | BRCA2 | c.7915C>G (p.Pro2639Ala) c.7546C>G (p.Pro2516Ala) c.382C>G (p.Pro128Ala) c.7923C>G (p.Phe2641Leu) c.480C>G n.7923C>G c.7819C>G (p.Pro2607Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32362632C>T | CA387747176 | BRCA2 | c.7915C>T (p.Pro2639Ser) c.7546C>T (p.Pro2516Ser) c.382C>T (p.Pro128Ser) c.7923C>T (p.Phe2641=) c.480C>T n.7923C>T c.7819C>T (p.Pro2607Ser) | dbSNP |
13 | g.32362632_32362633delinsCC | CA2082831577 | BRCA2 | c.7915_7916delinsCC (p.Pro2639=) c.7546_7547delinsCC (p.Pro2516=) c.382_383delinsCC (p.Pro128=) c.7923_7924delinsCC (p.Phe2641=) c.480_481delinsCC n.7923_7924delinsCC c.7819_7820delinsCC (p.Pro2607=) | |
13 | g.32362632_32362633delinsTT | CA1139663133 | BRCA2 | c.7915_7916delinsTT (p.Pro2639Phe) c.7546_7547delinsTT (p.Pro2516Phe) c.382_383delinsTT (p.Pro128Phe) c.7923_7924delinsTT (p.Phe2641=) c.480_481delinsTT n.7923_7924delinsTT c.7819_7820delinsTT (p.Pro2607Phe) | ClinVar dbSNP |
13 | g.32362633C>A | CA387747177 | BRCA2 | c.7916C>A (p.Pro2639His) c.7547C>A (p.Pro2516His) c.383C>A (p.Pro128His) c.7924C>A (p.Leu2642Ile) c.481C>A n.7924C>A c.7820C>A (p.Pro2607His) | dbSNP |
13 | g.32362633C= | CA2082831597 | BRCA2 | c.7916C= (p.Pro2639=) c.7547C= (p.Pro2516=) c.383C= (p.Pro128=) c.7924C= (p.Leu2642=) c.481C= n.7924C= c.7820C= (p.Pro2607=) | |
13 | g.32362633C>G | CA387747178 | BRCA2 | c.7916C>G (p.Pro2639Arg) c.7547C>G (p.Pro2516Arg) c.383C>G (p.Pro128Arg) c.7924C>G (p.Leu2642Val) c.481C>G n.7924C>G c.7820C>G (p.Pro2607Arg) | ClinVar dbSNP |
13 | g.32362633C>T | CA338873 | BRCA2 | c.7916C>T (p.Pro2639Leu) c.7547C>T (p.Pro2516Leu) c.383C>T (p.Pro128Leu) c.7924C>T (p.Leu2642=) c.481C>T n.7924C>T c.7820C>T (p.Pro2607Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362634T>A | CA483260963 | BRCA2 | c.7917T>A (p.Pro2639=) c.7548T>A (p.Pro2516=) c.384T>A (p.Pro128=) c.7925T>A (p.Leu2642Gln) c.482T>A n.7925T>A c.7821T>A (p.Pro2607=) | dbSNP |
13 | g.32362634T>C | CA483260964 | BRCA2 | c.7917T>C (p.Pro2639=) c.7548T>C (p.Pro2516=) c.384T>C (p.Pro128=) c.7925T>C (p.Leu2642Pro) c.482T>C n.7925T>C c.7821T>C (p.Pro2607=) | dbSNP |
13 | g.32362634T>G | CA483260966 | BRCA2 | c.7917T>G (p.Pro2639=) c.7548T>G (p.Pro2516=) c.384T>G (p.Pro128=) c.7925T>G (p.Leu2642Arg) c.482T>G n.7925T>G c.7821T>G (p.Pro2607=) | |
13 | g.32362635A= | CA2082831616 | BRCA2 | c.7918A= (p.Lys2640=) c.7549A= (p.Lys2517=) c.385A= (p.Lys129=) c.7926A= (p.Leu2642=) c.483A= n.7926A= c.7822A= (p.Lys2608=) | |
13 | g.32362635A>C | CA387747179 | BRCA2 | c.7918A>C (p.Lys2640Gln) c.7549A>C (p.Lys2517Gln) c.385A>C (p.Lys129Gln) c.7926A>C (p.Leu2642=) c.483A>C n.7926A>C c.7822A>C (p.Lys2608Gln) | |
13 | g.32362635A>G | CA387747180 | BRCA2 | c.7918A>G (p.Lys2640Glu) c.7549A>G (p.Lys2517Glu) c.385A>G (p.Lys129Glu) c.7926A>G (p.Leu2642=) c.483A>G n.7926A>G c.7822A>G (p.Lys2608Glu) | ClinVar dbSNP |
13 | g.32362635A>T | CA387747181 | BRCA2 | c.7918A>T (p.Lys2640Ter) c.7549A>T (p.Lys2517Ter) c.385A>T (p.Lys129Ter) c.7926A>T (p.Leu2642=) c.483A>T n.7926A>T c.7822A>T (p.Lys2608Ter) | dbSNP |
13 | g.32362635_32362645delinsAAGGAATTTGC | CA2082831605 | BRCA2 | c.7918_7928delinsAAGGAATTTGC (p.Lys2640=) c.7549_7559delinsAAGGAATTTGC (p.Lys2517=) c.385_395delinsAAGGAATTTGC (p.Lys129=) c.7926_7936delinsAAGGAATTTGC (p.Leu2642=) c.483_493delinsAAGGAATTTGC n.7926_7936delinsAAGGAATTTGC c.7822_7832delinsAAGGAATTTGC (p.Lys2608=) | |
13 | g.32362636A= | CA2082831644 | BRCA2 | c.7919A= (p.Lys2640=) c.7550A= (p.Lys2517=) c.386A= (p.Lys129=) c.7927A= (p.Arg2643=) c.484A= n.7927A= c.7823A= (p.Lys2608=) | |
13 | g.32362636A>C | CA025335 | BRCA2 | c.7919A>C (p.Lys2640Thr) c.7550A>C (p.Lys2517Thr) c.386A>C (p.Lys129Thr) c.7927A>C (p.Arg2643=) c.484A>C n.7927A>C c.7823A>C (p.Lys2608Thr) | ClinVar dbSNP |
13 | g.32362636A>G | CA387747182 | BRCA2 | c.7919A>G (p.Lys2640Arg) c.7550A>G (p.Lys2517Arg) c.386A>G (p.Lys129Arg) c.7927A>G (p.Arg2643Gly) c.484A>G n.7927A>G c.7823A>G (p.Lys2608Arg) | ClinVar dbSNP |
13 | g.32362636A>T | CA387747183 | BRCA2 | c.7919A>T (p.Lys2640Met) c.7550A>T (p.Lys2517Met) c.386A>T (p.Lys129Met) c.7927A>T (p.Arg2643Trp) c.484A>T n.7927A>T c.7823A>T (p.Lys2608Met) | ClinVar dbSNP |
13 | g.32362636_32362645del | CA10585936 | BRCA2 | c.7919_7928del (p.Lys2640IlefsTer5) c.7550_7559del (p.Lys2517IlefsTer5) c.386_395del (p.Lys129IlefsTer5) c.7927_7936del (p.Arg2643Ter) c.484_493del n.7927_7936del c.7823_7832del (p.Lys2608IlefsTer5) | ClinVar dbSNP |
13 | g.32362637G>A | CA483260973 | BRCA2 | c.7920G>A (p.Lys2640=) c.7551G>A (p.Lys2517=) c.387G>A (p.Lys129=) c.7928G>A (p.Arg2643Lys) c.485G>A n.7928G>A c.7824G>A (p.Lys2608=) | ClinVar dbSNP |
13 | g.32362637G>C | CA387747184 | BRCA2 | c.7920G>C (p.Lys2640Asn) c.7551G>C (p.Lys2517Asn) c.387G>C (p.Lys129Asn) c.7928G>C (p.Arg2643Thr) c.485G>C n.7928G>C c.7824G>C (p.Lys2608Asn) | ClinVar dbSNP |
13 | g.32362637G>T | CA387747185 | BRCA2 | c.7920G>T (p.Lys2640Asn) c.7551G>T (p.Lys2517Asn) c.387G>T (p.Lys129Asn) c.7928G>T (p.Arg2643Met) c.485G>T n.7928G>T c.7824G>T (p.Lys2608Asn) | |
13 | g.32362637_32362643delinsGGAATTT | CA2082831659 | BRCA2 | c.7920_7926delinsGGAATTT (p.Lys2640=) c.7551_7557delinsGGAATTT (p.Lys2517=) c.387_393delinsGGAATTT (p.Lys129=) c.7928_7934delinsGGAATTT (p.Arg2643=) c.485_491delinsGGAATTT n.7928_7934delinsGGAATTT c.7824_7830delinsGGAATTT (p.Lys2608=) | |
13 | g.32362638G>A | CA387747186 | BRCA2 | c.7921G>A (p.Glu2641Lys) c.7552G>A (p.Glu2518Lys) c.388G>A (p.Glu130Lys) c.7929G>A (p.Arg2643=) c.486G>A n.7929G>A c.7825G>A (p.Glu2609Lys) | dbSNP |
13 | g.32362638G>C | CA387747187 | BRCA2 | c.7921G>C (p.Glu2641Gln) c.7552G>C (p.Glu2518Gln) c.388G>C (p.Glu130Gln) c.7929G>C (p.Arg2643Ser) c.486G>C n.7929G>C c.7825G>C (p.Glu2609Gln) | dbSNP |
13 | g.32362638G= | CA2082831689 | BRCA2 | c.7921G= (p.Glu2641=) c.7552G= (p.Glu2518=) c.388G= (p.Glu130=) c.7929G= (p.Arg2643=) c.486G= n.7929G= c.7825G= (p.Glu2609=) | |
13 | g.32362638G>T | CA10586582 | BRCA2 | c.7921G>T (p.Glu2641Ter) c.7552G>T (p.Glu2518Ter) c.388G>T (p.Glu130Ter) c.7929G>T (p.Arg2643Ser) c.486G>T n.7929G>T c.7825G>T (p.Glu2609Ter) | ClinVar dbSNP |
13 | g.32362638_32362643delinsAG | CA025336 | BRCA2 | c.7921_7926delinsAG (p.Glu2641ArgfsTer6) c.7552_7557delinsAG (p.Glu2518ArgfsTer6) c.388_393delinsAG (p.Glu130ArgfsTer6) c.7929_7934delinsAG (p.Asn2644GlyfsTer2) c.486_491delinsAG n.7929_7934delinsAG c.7825_7830delinsAG (p.Glu2609ArgfsTer6) | ClinVar dbSNP |
13 | g.32362639A>C | CA387747188 | BRCA2 | c.7922A>C (p.Glu2641Ala) c.7553A>C (p.Glu2518Ala) c.389A>C (p.Glu130Ala) c.7930A>C (p.Asn2644His) c.487A>C n.7930A>C c.7826A>C (p.Glu2609Ala) | |
13 | g.32362639A>G | CA387747189 | BRCA2 | c.7922A>G (p.Glu2641Gly) c.7553A>G (p.Glu2518Gly) c.389A>G (p.Glu130Gly) c.7930A>G (p.Asn2644Asp) c.487A>G n.7930A>G c.7826A>G (p.Glu2609Gly) | ClinVar dbSNP |
13 | g.32362639A>T | CA387747190 | BRCA2 | c.7922A>T (p.Glu2641Val) c.7553A>T (p.Glu2518Val) c.389A>T (p.Glu130Val) c.7930A>T (p.Asn2644Tyr) c.487A>T n.7930A>T c.7826A>T (p.Glu2609Val) | |
13 | g.32362640dup | CA2573149364 | BRCA2 | c.7923dup (p.Phe2642IlefsTer3) c.7554dup (p.Phe2519IlefsTer3) c.390dup (p.Phe131IlefsTer3) c.7931dup (p.Asn2644LysfsTer?) c.488dup n.7931dup c.7827dup (p.Phe2610IlefsTer3) | ClinVar dbSNP |
13 | g.32362640A>C | CA387747191 | BRCA2 | c.7923A>C (p.Glu2641Asp) c.7554A>C (p.Glu2518Asp) c.390A>C (p.Glu130Asp) c.7931A>C (p.Asn2644Thr) c.488A>C n.7931A>C c.7827A>C (p.Glu2609Asp) | |
13 | g.32362640A>G | CA483260977 | BRCA2 | c.7923A>G (p.Glu2641=) c.7554A>G (p.Glu2518=) c.390A>G (p.Glu130=) c.7931A>G (p.Asn2644Ser) c.488A>G n.7931A>G c.7827A>G (p.Glu2609=) | dbSNP gnomAD v4 |
13 | g.32362640A>T | CA387747192 | BRCA2 | c.7923A>T (p.Glu2641Asp) c.7554A>T (p.Glu2518Asp) c.390A>T (p.Glu130Asp) c.7931A>T (p.Asn2644Ile) c.488A>T n.7931A>T c.7827A>T (p.Glu2609Asp) | dbSNP |
13 | g.32362640_32362641delinsAT | CA2082831706 | BRCA2 | c.7923_7924delinsAT (p.Glu2641=) c.7554_7555delinsAT (p.Glu2518=) c.390_391delinsAT (p.Glu130=) c.7931_7932delinsAT (p.Asn2644=) c.488_489delinsAT n.7931_7932delinsAT c.7827_7828delinsAT (p.Glu2609=) | |
13 | g.32362641T>A | CA387747193 | BRCA2 | c.7924T>A (p.Phe2642Ile) c.7555T>A (p.Phe2519Ile) c.391T>A (p.Phe131Ile) c.7932T>A (p.Asn2644Lys) c.489T>A n.7932T>A c.7828T>A (p.Phe2610Ile) | dbSNP |
13 | g.32362641T>C | CA387747194 | BRCA2 | c.7924T>C (p.Phe2642Leu) c.7555T>C (p.Phe2519Leu) c.391T>C (p.Phe131Leu) c.7932T>C (p.Asn2644=) c.489T>C n.7932T>C c.7828T>C (p.Phe2610Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32362641T>G | CA387747195 | BRCA2 | c.7924T>G (p.Phe2642Val) c.7555T>G (p.Phe2519Val) c.391T>G (p.Phe131Val) c.7932T>G (p.Asn2644Lys) c.489T>G n.7932T>G c.7828T>G (p.Phe2610Val) | |
13 | g.32362641T= | CA2082831716 | BRCA2 | c.7924T= (p.Phe2642=) c.7555T= (p.Phe2519=) c.391T= (p.Phe131=) c.7932T= (p.Asn2644=) c.489T= n.7932T= c.7828T= (p.Phe2610=) | |
13 | g.32362643del | CA025337 | BRCA2 | c.7926del (p.Phe2642LeufsTer6) c.7557del (p.Phe2519LeufsTer6) c.393del (p.Phe131LeufsTer6) c.7934del (p.Leu2645CysfsTer2) c.491del n.7934del c.7830del (p.Phe2610LeufsTer6) | ClinVar dbSNP |
13 | g.32362642T>A | CA387747196 | BRCA2 | c.7925T>A (p.Phe2642Tyr) c.7556T>A (p.Phe2519Tyr) c.392T>A (p.Phe131Tyr) c.7933T>A (p.Leu2645Met) c.490T>A n.7933T>A c.7829T>A (p.Phe2610Tyr) | dbSNP |
13 | g.32362642T>C | CA387747197 | BRCA2 | c.7925T>C (p.Phe2642Ser) c.7556T>C (p.Phe2519Ser) c.392T>C (p.Phe131Ser) c.7933T>C (p.Leu2645=) c.490T>C n.7933T>C c.7829T>C (p.Phe2610Ser) | dbSNP gnomAD v4 |
13 | g.32362642T>G | CA387747198 | BRCA2 | c.7925T>G (p.Phe2642Cys) c.7556T>G (p.Phe2519Cys) c.392T>G (p.Phe131Cys) c.7933T>G (p.Leu2645Val) c.490T>G n.7933T>G c.7829T>G (p.Phe2610Cys) | ClinVar dbSNP |
13 | g.32362642T= | CA2082831721 | BRCA2 | c.7925T= (p.Phe2642=) c.7556T= (p.Phe2519=) c.392T= (p.Phe131=) c.7933T= (p.Leu2645=) c.490T= n.7933T= c.7829T= (p.Phe2610=) | |
13 | g.32362643T>A | CA387747200 | BRCA2 | c.7926T>A (p.Phe2642Leu) c.7557T>A (p.Phe2519Leu) c.393T>A (p.Phe131Leu) c.7934T>A (p.Leu2645Ter) c.491T>A n.7934T>A c.7830T>A (p.Phe2610Leu) | dbSNP |
13 | g.32362643T>C | CA483260981 | BRCA2 | c.7926T>C (p.Phe2642=) c.7557T>C (p.Phe2519=) c.393T>C (p.Phe131=) c.7934T>C (p.Leu2645Ser) c.491T>C n.7934T>C c.7830T>C (p.Phe2610=) | gnomAD v4 |
13 | g.32362643T>G | CA387747199 | BRCA2 | c.7926T>G (p.Phe2642Leu) c.7557T>G (p.Phe2519Leu) c.393T>G (p.Phe131Leu) c.7934T>G (p.Leu2645Trp) c.491T>G n.7934T>G c.7830T>G (p.Phe2610Leu) | ClinVar dbSNP |
13 | g.32362643T= | CA2082831729 | BRCA2 | c.7926T= (p.Phe2642=) c.7557T= (p.Phe2519=) c.393T= (p.Phe131=) c.7934T= (p.Leu2645=) c.491T= n.7934T= c.7830T= (p.Phe2610=) | |
13 | g.32362644G>A | CA387747201 | BRCA2 | c.7927G>A (p.Ala2643Thr) c.7558G>A (p.Ala2520Thr) c.394G>A (p.Ala132Thr) c.7935G>A (p.Leu2645=) c.492G>A n.7935G>A c.7831G>A (p.Ala2611Thr) | ClinVar dbSNP |
13 | g.32362644G>C | CA387747202 | BRCA2 | c.7927G>C (p.Ala2643Pro) c.7558G>C (p.Ala2520Pro) c.394G>C (p.Ala132Pro) c.7935G>C (p.Leu2645Phe) c.492G>C n.7935G>C c.7831G>C (p.Ala2611Pro) | dbSNP |
13 | g.32362644G= | CA2082831739 | BRCA2 | c.7927G= (p.Ala2643=) c.7558G= (p.Ala2520=) c.394G= (p.Ala132=) c.7935G= (p.Leu2645=) c.492G= n.7935G= c.7831G= (p.Ala2611=) | |
13 | g.32362644G>T | CA387747203 | BRCA2 | c.7927G>T (p.Ala2643Ser) c.7558G>T (p.Ala2520Ser) c.394G>T (p.Ala132Ser) c.7935G>T (p.Leu2645Phe) c.492G>T n.7935G>T c.7831G>T (p.Ala2611Ser) | dbSNP gnomAD v4 |
13 | g.32362645C>A | CA387747204 | BRCA2 | c.7928C>A (p.Ala2643Asp) c.7559C>A (p.Ala2520Asp) c.395C>A (p.Ala132Asp) c.7936C>A (p.Leu2646Ile) c.493C>A n.7936C>A c.7832C>A (p.Ala2611Asp) | dbSNP |
13 | g.32362645C= | CA2082831749 | BRCA2 | c.7928C= (p.Ala2643=) c.7559C= (p.Ala2520=) c.395C= (p.Ala132=) c.7936C= (p.Leu2646=) c.493C= n.7936C= c.7832C= (p.Ala2611=) | |
13 | g.32362645C>G | CA025338 | BRCA2 | c.7928C>G (p.Ala2643Gly) c.7559C>G (p.Ala2520Gly) c.395C>G (p.Ala132Gly) c.7936C>G (p.Leu2646Val) c.493C>G n.7936C>G c.7832C>G (p.Ala2611Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362645C>T | CA025339 | BRCA2 | c.7928C>T (p.Ala2643Val) c.7559C>T (p.Ala2520Val) c.395C>T (p.Ala132Val) c.7936C>T (p.Leu2646=) c.493C>T n.7936C>T c.7832C>T (p.Ala2611Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32362646T>A | CA483260987 | BRCA2 | c.7929T>A (p.Ala2643=) c.7560T>A (p.Ala2520=) c.396T>A (p.Ala132=) c.7937T>A (p.Leu2646Gln) c.494T>A n.7937T>A c.7833T>A (p.Ala2611=) | |
13 | g.32362646T>C | CA483260988 | BRCA2 | c.7929T>C (p.Ala2643=) c.7560T>C (p.Ala2520=) c.396T>C (p.Ala132=) c.7937T>C (p.Leu2646Pro) c.494T>C n.7937T>C c.7833T>C (p.Ala2611=) | ClinVar dbSNP |
13 | g.32362646T>G | CA483260986 | BRCA2 | c.7929T>G (p.Ala2643=) c.7560T>G (p.Ala2520=) c.396T>G (p.Ala132=) c.7937T>G (p.Leu2646Arg) c.494T>G n.7937T>G c.7833T>G (p.Ala2611=) | |
13 | g.32362646T= | CA2082831764 | BRCA2 | c.7929T= (p.Ala2643=) c.7560T= (p.Ala2520=) c.396T= (p.Ala132=) c.7937T= (p.Leu2646=) c.494T= n.7937T= c.7833T= (p.Ala2611=) | |
13 | g.32362647A= | CA2082831776 | BRCA2 | c.7930A= (p.Asn2644=) c.7561A= (p.Asn2521=) c.397A= (p.Asn133=) c.7938A= (p.Leu2646=) c.495A= n.7938A= c.7834A= (p.Asn2612=) | |
13 | g.32362647A>C | CA387747205 | BRCA2 | c.7930A>C (p.Asn2644His) c.7561A>C (p.Asn2521His) c.397A>C (p.Asn133His) c.7938A>C (p.Leu2646=) c.495A>C n.7938A>C c.7834A>C (p.Asn2612His) | |
13 | g.32362647A>G | CA025340 | BRCA2 | c.7930A>G (p.Asn2644Asp) c.7561A>G (p.Asn2521Asp) c.397A>G (p.Asn133Asp) c.7938A>G (p.Leu2646=) c.495A>G n.7938A>G c.7834A>G (p.Asn2612Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362647A>T | CA387747206 | BRCA2 | c.7930A>T (p.Asn2644Tyr) c.7561A>T (p.Asn2521Tyr) c.397A>T (p.Asn133Tyr) c.7938A>T (p.Leu2646=) c.495A>T n.7938A>T c.7834A>T (p.Asn2612Tyr) | dbSNP |
13 | g.32362648A= | CA2082831805 | BRCA2 | c.7931A= (p.Asn2644=) c.7562A= (p.Asn2521=) c.398A= (p.Asn133=) c.7939A= (p.Ile2647=) c.496A= n.7939A= c.7835A= (p.Asn2612=) | |
13 | g.32362648A>C | CA387747207 | BRCA2 | c.7931A>C (p.Asn2644Thr) c.7562A>C (p.Asn2521Thr) c.398A>C (p.Asn133Thr) c.7939A>C (p.Ile2647Leu) c.496A>C n.7939A>C c.7835A>C (p.Asn2612Thr) | dbSNP |
13 | g.32362648A>G | CA025341 | BRCA2 | c.7931A>G (p.Asn2644Ser) c.7562A>G (p.Asn2521Ser) c.398A>G (p.Asn133Ser) c.7939A>G (p.Ile2647Val) c.496A>G n.7939A>G c.7835A>G (p.Asn2612Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362648A>T | CA387747208 | BRCA2 | c.7931A>T (p.Asn2644Ile) c.7562A>T (p.Asn2521Ile) c.398A>T (p.Asn133Ile) c.7939A>T (p.Ile2647Leu) c.496A>T n.7939A>T c.7835A>T (p.Asn2612Ile) | dbSNP |
13 | g.32362649T>A | CA387747210 | BRCA2 | c.7932T>A (p.Asn2644Lys) c.7563T>A (p.Asn2521Lys) c.399T>A (p.Asn133Lys) c.7940T>A (p.Ile2647Lys) c.497T>A n.7940T>A c.7836T>A (p.Asn2612Lys) | dbSNP |
13 | g.32362649T>C | CA16614367 | BRCA2 | c.7932T>C (p.Asn2644=) c.7563T>C (p.Asn2521=) c.399T>C (p.Asn133=) c.7940T>C (p.Ile2647Thr) c.497T>C n.7940T>C c.7836T>C (p.Asn2612=) | ClinVar dbSNP |
13 | g.32362649T>G | CA387747209 | BRCA2 | c.7932T>G (p.Asn2644Lys) c.7563T>G (p.Asn2521Lys) c.399T>G (p.Asn133Lys) c.7940T>G (p.Ile2647Arg) c.497T>G n.7940T>G c.7836T>G (p.Asn2612Lys) | ClinVar dbSNP |
13 | g.32362649T= | CA2082831821 | BRCA2 | c.7932T= (p.Asn2644=) c.7563T= (p.Asn2521=) c.399T= (p.Asn133=) c.7940T= (p.Ile2647=) c.497T= n.7940T= c.7836T= (p.Asn2612=) | |
13 | g.32362650A= | CA2082831843 | BRCA2 | c.7933A= (p.Arg2645=) c.7564A= (p.Arg2522=) c.400A= (p.Arg134=) c.7941A= (p.Ile2647=) c.498A= n.7941A= c.7837A= (p.Arg2613=) | |
13 | g.32362650A>C | CA483260991 | BRCA2 | c.7933A>C (p.Arg2645=) c.7564A>C (p.Arg2522=) c.400A>C (p.Arg134=) c.7941A>C (p.Ile2647=) c.498A>C n.7941A>C c.7837A>C (p.Arg2613=) | |
13 | g.32362650A>G | CA10579761 | BRCA2 | c.7933A>G (p.Arg2645Gly) c.7564A>G (p.Arg2522Gly) c.400A>G (p.Arg134Gly) c.7941A>G (p.Ile2647Met) c.498A>G n.7941A>G c.7837A>G (p.Arg2613Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362650A>T | CA10589458 | BRCA2 | c.7933A>T (p.Arg2645Ter) c.7564A>T (p.Arg2522Ter) c.400A>T (p.Arg134Ter) c.7941A>T (p.Ile2647=) c.498A>T n.7941A>T c.7837A>T (p.Arg2613Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362650_32362651delinsAG | CA2082831829 | BRCA2 | c.7933_7934delinsAG (p.Arg2645=) c.7564_7565delinsAG (p.Arg2522=) c.400_401delinsAG (p.Arg134=) c.7941_7942delinsAG (p.Ile2647=) c.498_499delinsAG n.7941_7942delinsAG c.7837_7838delinsAG (p.Arg2613=) | |
13 | g.32362650_32362660delinsCTATTAGCA | CA2573053824 | BRCA2 | c.7933_7943delinsCTATTAGCA (p.Arg2645LeufsTer16) c.7564_7574delinsCTATTAGCA (p.Arg2522LeufsTer16) c.400_410delinsCTATTAGCA (p.Arg134LeufsTer16) c.7941_7951delinsCTATTAGCA (n.[c.7941_7951delinsCTATTAGCA;Asp2648TyrfsTer2]) c.498_508delinsCTATTAGCA c.7837_7847delinsCTATTAGCA (p.Arg2613LeufsTer16) | ClinVar dbSNP |
13 | g.32362651del | CA025344 | BRCA2 | c.7934del (p.Arg2645AsnfsTer3) c.7565del (p.Arg2522AsnfsTer3) c.401del (p.Arg134AsnfsTer3) c.7942del (p.Asp2648MetfsTer16) c.499del n.7942del c.7838del (p.Arg2613AsnfsTer3) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32362651G>A | CA387747211 | BRCA2 | c.7934G>A (p.Arg2645Lys) c.7565G>A (p.Arg2522Lys) c.401G>A (p.Arg134Lys) c.7942G>A (p.Asp2648Asn) c.499G>A n.7942G>A c.7838G>A (p.Arg2613Lys) | dbSNP gnomAD v4 |
13 | g.32362651G>C | CA387747212 | BRCA2 | c.7934G>C (p.Arg2645Thr) c.7565G>C (p.Arg2522Thr) c.401G>C (p.Arg134Thr) c.7942G>C (p.Asp2648His) c.499G>C n.7942G>C c.7838G>C (p.Arg2613Thr) | dbSNP |
13 | g.32362651G>T | CA387747213 | BRCA2 | c.7934G>T (p.Arg2645Ile) c.7565G>T (p.Arg2522Ile) c.401G>T (p.Arg134Ile) c.7942G>T (p.Asp2648Tyr) c.499G>T n.7942G>T c.7838G>T (p.Arg2613Ile) | |
13 | g.32362651_32362652insGCAATTTGCTAAT | CA2580087418 | BRCA2 | c.7934_7935insGCAATTTGCTAAT (p.Cys2646GlnfsTer20) c.7565_7566insGCAATTTGCTAAT (p.Cys2523GlnfsTer20) c.401_402insGCAATTTGCTAAT (p.Cys135GlnfsTer20) c.7942_7943insGCAATTTGCTAAT (p.Asp2648GlyfsTer?) c.499_500insGCAATTTGCTAAT n.7942_7943insGCAATTTGCTAAT c.7838_7839insGCAATTTGCTAAT (p.Cys2614GlnfsTer20) | ClinVar |
13 | g.32362652A= | CA2082831873 | BRCA2 | c.7935A= (p.Arg2645=) c.7566A= (p.Arg2522=) c.402A= (p.Arg134=) c.7943A= (p.Asp2648=) c.500A= n.7943A= c.7839A= (p.Arg2613=) | |
13 | g.32362652A>C | CA387747214 | BRCA2 | c.7935A>C (p.Arg2645Ser) c.7566A>C (p.Arg2522Ser) c.402A>C (p.Arg134Ser) c.7943A>C (p.Asp2648Ala) c.500A>C n.7943A>C c.7839A>C (p.Arg2613Ser) | dbSNP |
13 | g.32362652A>G | CA483260997 | BRCA2 | c.7935A>G (p.Arg2645=) c.7566A>G (p.Arg2522=) c.402A>G (p.Arg134=) c.7943A>G (p.Asp2648Gly) c.500A>G n.7943A>G c.7839A>G (p.Arg2613=) | ClinVar dbSNP |
13 | g.32362652A>T | CA387747215 | BRCA2 | c.7935A>T (p.Arg2645Ser) c.7566A>T (p.Arg2522Ser) c.402A>T (p.Arg134Ser) c.7943A>T (p.Asp2648Val) c.500A>T n.7943A>T c.7839A>T (p.Arg2613Ser) | |
13 | g.32362653T>A | CA387747216 | BRCA2 | c.7936T>A (p.Cys2646Ser) c.7567T>A (p.Cys2523Ser) c.403T>A (p.Cys135Ser) c.7944T>A (p.Asp2648Glu) c.501T>A n.7944T>A c.7840T>A (p.Cys2614Ser) | dbSNP |
13 | g.32362653T>C | CA387747217 | BRCA2 | c.7936T>C (p.Cys2646Arg) c.7567T>C (p.Cys2523Arg) c.403T>C (p.Cys135Arg) c.7944T>C (p.Asp2648=) c.501T>C n.7944T>C c.7840T>C (p.Cys2614Arg) | |
13 | g.32362653T>G | CA387747218 | BRCA2 | c.7936T>G (p.Cys2646Gly) c.7567T>G (p.Cys2523Gly) c.403T>G (p.Cys135Gly) c.7944T>G (p.Asp2648Glu) c.501T>G n.7944T>G c.7840T>G (p.Cys2614Gly) | |
13 | g.32362656_32362674del | CA2580087419 | BRCA2 | c.7939_7957del (p.Leu2647PhefsTer4) c.7570_7588del (p.Leu2524PhefsTer4) c.406_424del (p.Leu136PhefsTer4) c.7947_7965del (n.[c.7947_7965del;Ter2650SerextTer8]) c.504_522del c.7843_7861del (p.Leu2615PhefsTer4) | ClinVar |
13 | g.32362654G>A | CA247475247 | BRCA2 | c.7937G>A (p.Cys2646Tyr) c.7568G>A (p.Cys2523Tyr) c.404G>A (p.Cys135Tyr) c.7945G>A (p.Ala2649Thr) c.502G>A n.7945G>A c.7841G>A (p.Cys2614Tyr) | ClinVar dbSNP |
13 | g.32362654G>C | CA247475250 | BRCA2 | c.7937G>C (p.Cys2646Ser) c.7568G>C (p.Cys2523Ser) c.404G>C (p.Cys135Ser) c.7945G>C (p.Ala2649Pro) c.502G>C n.7945G>C c.7841G>C (p.Cys2614Ser) | dbSNP |
13 | g.32362654G= | CA2082831885 | BRCA2 | c.7937G= (p.Cys2646=) c.7568G= (p.Cys2523=) c.404G= (p.Cys135=) c.7945G= (p.Ala2649=) c.502G= n.7945G= c.7841G= (p.Cys2614=) | |
13 | g.32362654G>T | CA387747219 | BRCA2 | c.7937G>T (p.Cys2646Phe) c.7568G>T (p.Cys2523Phe) c.404G>T (p.Cys135Phe) c.7945G>T (p.Ala2649Ser) c.502G>T n.7945G>T c.7841G>T (p.Cys2614Phe) | dbSNP |
13 | g.32362655C>A | CA387747220 | BRCA2 | c.7938C>A (p.Cys2646Ter) c.7569C>A (p.Cys2523Ter) c.405C>A (p.Cys135Ter) c.7946C>A (p.Ala2649Asp) c.503C>A n.7946C>A c.7842C>A (p.Cys2614Ter) | dbSNP |
13 | g.32362655C= | CA2082831922 | BRCA2 | c.7938C= (p.Cys2646=) c.7569C= (p.Cys2523=) c.405C= (p.Cys135=) c.7946C= (p.Ala2649=) c.503C= n.7946C= c.7842C= (p.Cys2614=) | |
13 | g.32362655C>G | CA16619773 | BRCA2 | c.7938C>G (p.Cys2646Trp) c.7569C>G (p.Cys2523Trp) c.405C>G (p.Cys135Trp) c.7946C>G (p.Ala2649Gly) c.503C>G n.7946C>G c.7842C>G (p.Cys2614Trp) | ClinVar dbSNP |
13 | g.32362655C>T | CA483261000 | BRCA2 | c.7938C>T (p.Cys2646=) c.7569C>T (p.Cys2523=) c.405C>T (p.Cys135=) c.7946C>T (p.Ala2649Val) c.503C>T n.7946C>T c.7842C>T (p.Cys2614=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362656dup | CA658823758 | BRCA2 | c.7939dup (p.Leu2647ProfsTer15) c.7570dup (p.Leu2524ProfsTer15) c.406dup (p.Leu136ProfsTer15) c.7947dup (p.Ter2650LeuextTer?) c.504dup n.7947dup c.7843dup (p.Leu2615ProfsTer15) | ClinVar dbSNP |
13 | g.32362656del | CA2843744718 | BRCA2 | c.7939del (p.Leu2647Ter) c.7570del (p.Leu2524Ter) c.406del (p.Leu136Ter) c.7947del (p.Ter2650LysextTer14) c.504del n.7947del c.7843del (p.Leu2615Ter) | |
13 | g.32362656C>A | CA387747221 | BRCA2 | c.7939C>A (p.Leu2647Ile) c.7570C>A (p.Leu2524Ile) c.406C>A (p.Leu136Ile) c.7947C>A (p.Ala2649=) c.504C>A n.7947C>A c.7843C>A (p.Leu2615Ile) | dbSNP |
13 | g.32362656C= | CA2082831933 | BRCA2 | c.7939C= (p.Leu2647=) c.7570C= (p.Leu2524=) c.406C= (p.Leu136=) c.7947C= (p.Ala2649=) c.504C= n.7947C= c.7843C= (p.Leu2615=) | |
13 | g.32362656C>G | CA025345 | BRCA2 | c.7939C>G (p.Leu2647Val) c.7570C>G (p.Leu2524Val) c.406C>G (p.Leu136Val) c.7947C>G (p.Ala2649=) c.504C>G n.7947C>G c.7843C>G (p.Leu2615Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32362656C>T | CA247475257 | BRCA2 | c.7939C>T (p.Leu2647=) c.7570C>T (p.Leu2524=) c.406C>T (p.Leu136=) c.7947C>T (p.Ala2649=) c.504C>T n.7947C>T c.7843C>T (p.Leu2615=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362657T>A | CA387747222 | BRCA2 | c.7940T>A (p.Leu2647Gln) c.7571T>A (p.Leu2524Gln) c.407T>A (p.Leu136Gln) c.7948T>A (p.Ter2650Lys) c.505T>A n.7948T>A c.7844T>A (p.Leu2615Gln) | |
13 | g.32362657T>C | CA025346 | BRCA2 | c.7940T>C (p.Leu2647Pro) c.7571T>C (p.Leu2524Pro) c.407T>C (p.Leu136Pro) c.7948T>C (p.Ter2650Gln) c.505T>C n.7948T>C c.7844T>C (p.Leu2615Pro) | ClinVar dbSNP |
13 | g.32362657T>G | CA387747223 | BRCA2 | c.7940T>G (p.Leu2647Arg) c.7571T>G (p.Leu2524Arg) c.407T>G (p.Leu136Arg) c.7948T>G (p.Ter2650Glu) c.505T>G n.7948T>G c.7844T>G (p.Leu2615Arg) | |
13 | g.32362657T= | CA2082831982 | BRCA2 | c.7940T= (p.Leu2647=) c.7571T= (p.Leu2524=) c.407T= (p.Leu136=) c.7948T= (p.Ter2650=) c.505T= n.7948T= c.7844T= (p.Leu2615=) | |
13 | g.32362657_32362658insC | CA10581593 | BRCA2 | c.7940_7941insC (p.Ser2648LysfsTer14) c.7571_7572insC (p.Ser2525LysfsTer14) c.407_408insC (p.Ser137LysfsTer14) c.7948_7949insC (p.Ter2650SerextTer?) c.505_506insC n.7948_7949insC c.7844_7845insC (p.Ser2616LysfsTer14) | ClinVar dbSNP |
13 | g.32362658A= | CA2082831993 | BRCA2 | c.7941A= (p.Leu2647=) c.7572A= (p.Leu2524=) c.408A= (p.Leu136=) c.7949A= (p.Ter2650=) c.506A= n.7949A= c.7845A= (p.Leu2615=) | |
13 | g.32362658A>C | CA025348 | BRCA2 | c.7941A>C (p.Leu2647=) c.7572A>C (p.Leu2524=) c.408A>C (p.Leu136=) c.7949A>C (p.Ter2650Ser) c.506A>C n.7949A>C c.7845A>C (p.Leu2615=) | ClinVar dbSNP |
13 | g.32362658A>G | CA247475268 | BRCA2 | c.7941A>G (p.Leu2647=) c.7572A>G (p.Leu2524=) c.408A>G (p.Leu136=) c.7949A>G (p.Ter2650=) c.506A>G n.7949A>G c.7845A>G (p.Leu2615=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362658A>T | CA483261005 | BRCA2 | c.7941A>T (p.Leu2647=) c.7572A>T (p.Leu2524=) c.408A>T (p.Leu136=) c.7949A>T (p.Ter2650Leu) c.506A>T n.7949A>T c.7845A>T (p.Leu2615=) | dbSNP |
13 | g.32362659A>C | CA387747224 | BRCA2 | c.7942A>C (p.Ser2648Arg) c.7573A>C (p.Ser2525Arg) c.409A>C (p.Ser137Arg) c.7950A>C (p.Ter2650Tyr) c.507A>C n.7950A>C c.7846A>C (p.Ser2616Arg) | ClinVar |
13 | g.32362659A>G | CA387747225 | BRCA2 | c.7942A>G (p.Ser2648Gly) c.7573A>G (p.Ser2525Gly) c.409A>G (p.Ser137Gly) c.7950A>G (p.Ter2650=) c.507A>G n.7950A>G c.7846A>G (p.Ser2616Gly) | |
13 | g.32362659A>T | CA387747226 | BRCA2 | c.7942A>T (p.Ser2648Cys) c.7573A>T (p.Ser2525Cys) c.409A>T (p.Ser137Cys) c.7950A>T (p.Ter2650Tyr) c.507A>T n.7950A>T c.7846A>T (p.Ser2616Cys) | dbSNP COSMIC COSMIC |
13 | g.32362660G>A | CA387747227 | BRCA2 | c.7943G>A (p.Ser2648Asn) c.7574G>A (p.Ser2525Asn) c.410G>A (p.Ser137Asn) c.7951G>A (n.7951G>A) c.508G>A c.7847G>A (p.Ser2616Asn) | |
13 | g.32362660G>C | CA387747228 | BRCA2 | c.7943G>C (p.Ser2648Thr) c.7574G>C (p.Ser2525Thr) c.410G>C (p.Ser137Thr) c.7951G>C (n.7951G>C) c.508G>C c.7847G>C (p.Ser2616Thr) | |
13 | g.32362660G= | CA2082832003 | BRCA2 | c.7943G= (p.Ser2648=) c.7574G= (p.Ser2525=) c.410G= (p.Ser137=) c.7951G= (n.7951G=) c.508G= c.7847G= (p.Ser2616=) | |
13 | g.32362660G>T | CA16614218 | BRCA2 | c.7943G>T (p.Ser2648Ile) c.7574G>T (p.Ser2525Ile) c.410G>T (p.Ser137Ile) c.7951G>T (n.7951G>T) c.508G>T c.7847G>T (p.Ser2616Ile) | ClinVar dbSNP |
13 | g.32362660_32362661delinsGC | CA2082832002 | BRCA2 | c.7943_7944delinsGC (p.Ser2648=) c.7574_7575delinsGC (p.Ser2525=) c.410_411delinsGC (p.Ser137=) c.7951_7952delinsGC (n.7951_7952delinsGC) c.508_509delinsGC c.7847_7848delinsGC (p.Ser2616=) | |
13 | g.32362661C>A | CA387747229 | BRCA2 | c.7944C>A (p.Ser2648Arg) c.7575C>A (p.Ser2525Arg) c.411C>A (p.Ser137Arg) c.7952C>A (n.7952C>A) c.509C>A c.7848C>A (p.Ser2616Arg) | dbSNP |
13 | g.32362661C= | CA2082832015 | BRCA2 | c.7944C= (p.Ser2648=) c.7575C= (p.Ser2525=) c.411C= (p.Ser137=) c.7952C= (n.7952C=) c.509C= c.7848C= (p.Ser2616=) | |
13 | g.32362661C>G | CA387747230 | BRCA2 | c.7944C>G (p.Ser2648Arg) c.7575C>G (p.Ser2525Arg) c.411C>G (p.Ser137Arg) c.7952C>G (n.7952C>G) c.509C>G c.7848C>G (p.Ser2616Arg) | dbSNP |
13 | g.32362661C>T | CA483261009 | BRCA2 | c.7944C>T (p.Ser2648=) c.7575C>T (p.Ser2525=) c.411C>T (p.Ser137=) c.7952C>T (n.7952C>T) c.509C>T c.7848C>T (p.Ser2616=) | ClinVar dbSNP |
13 | g.32362663del | CA336502 | BRCA2 | c.7946del (p.Pro2649GlnfsTer8) c.7577del (p.Pro2526GlnfsTer8) c.413del (p.Pro138GlnfsTer8) c.7954del (n.7954del) c.511del c.7850del (p.Pro2617GlnfsTer8) | ClinVar dbSNP |
13 | g.32362662C>A | CA387747232 | BRCA2 | c.7945C>A (p.Pro2649Thr) c.7576C>A (p.Pro2526Thr) c.412C>A (p.Pro138Thr) c.7953C>A (n.7953C>A) c.510C>A c.7849C>A (p.Pro2617Thr) | dbSNP |
13 | g.32362662C>G | CA387747231 | BRCA2 | c.7945C>G (p.Pro2649Ala) c.7576C>G (p.Pro2526Ala) c.412C>G (p.Pro138Ala) c.7953C>G (n.7953C>G) c.510C>G c.7849C>G (p.Pro2617Ala) | dbSNP gnomAD v4 |
13 | g.32362662C>T | CA387747233 | BRCA2 | c.7945C>T (p.Pro2649Ser) c.7576C>T (p.Pro2526Ser) c.412C>T (p.Pro138Ser) c.7953C>T (n.7953C>T) c.510C>T c.7849C>T (p.Pro2617Ser) | ClinVar dbSNP |
13 | g.32362663C>A | CA387747236 | BRCA2 | c.7946C>A (p.Pro2649Gln) c.7577C>A (p.Pro2526Gln) c.413C>A (p.Pro138Gln) c.7954C>A (n.7954C>A) c.511C>A c.7850C>A (p.Pro2617Gln) | dbSNP |
13 | g.32362663C= | CA2082832021 | BRCA2 | c.7946C= (p.Pro2649=) c.7577C= (p.Pro2526=) c.413C= (p.Pro138=) c.7954C= (n.7954C=) c.511C= c.7850C= (p.Pro2617=) | |
13 | g.32362663C>G | CA387747234 | BRCA2 | c.7946C>G (p.Pro2649Arg) c.7577C>G (p.Pro2526Arg) c.413C>G (p.Pro138Arg) c.7954C>G (n.7954C>G) c.511C>G c.7850C>G (p.Pro2617Arg) | dbSNP |
13 | g.32362663C>T | CA387747235 | BRCA2 | c.7946C>T (p.Pro2649Leu) c.7577C>T (p.Pro2526Leu) c.413C>T (p.Pro138Leu) c.7954C>T (n.7954C>T) c.511C>T c.7850C>T (p.Pro2617Leu) | |
13 | g.32362664A= | CA2082832027 | BRCA2 | c.7947A= (p.Pro2649=) c.7578A= (p.Pro2526=) c.414A= (p.Pro138=) c.7955A= (n.7955A=) c.512A= c.7851A= (p.Pro2617=) | |
13 | g.32362664A>C | CA483261012 | BRCA2 | c.7947A>C (p.Pro2649=) c.7578A>C (p.Pro2526=) c.414A>C (p.Pro138=) c.7955A>C (n.7955A>C) c.512A>C c.7851A>C (p.Pro2617=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362664A>G | CA025349 | BRCA2 | c.7947A>G (p.Pro2649=) c.7578A>G (p.Pro2526=) c.414A>G (p.Pro138=) c.7955A>G (n.7955A>G) c.512A>G c.7851A>G (p.Pro2617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362664A>T | CA483261013 | BRCA2 | c.7947A>T (p.Pro2649=) c.7578A>T (p.Pro2526=) c.414A>T (p.Pro138=) c.7955A>T (n.7955A>T) c.512A>T c.7851A>T (p.Pro2617=) | dbSNP |
13 | g.32362664dup | CA10589459 | BRCA2 | c.7947dup (p.Glu2650ArgfsTer12) c.7578dup (p.Glu2527ArgfsTer12) c.414dup (p.Glu139ArgfsTer12) c.7955dup (n.7955dup) c.512dup c.7851dup (p.Glu2618ArgfsTer12) | ClinVar dbSNP gnomAD v4 |
13 | g.32362665G>A | CA387747237 | BRCA2 | c.7948G>A (p.Glu2650Lys) c.7579G>A (p.Glu2527Lys) c.415G>A (p.Glu139Lys) c.7956G>A (n.7956G>A) c.513G>A c.7852G>A (p.Glu2618Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32362665G>C | CA387747238 | BRCA2 | c.7948G>C (p.Glu2650Gln) c.7579G>C (p.Glu2527Gln) c.415G>C (p.Glu139Gln) c.7956G>C (n.7956G>C) c.513G>C c.7852G>C (p.Glu2618Gln) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32362665G= | CA2082832033 | BRCA2 | c.7948G= (p.Glu2650=) c.7579G= (p.Glu2527=) c.415G= (p.Glu139=) c.7956G= (n.7956G=) c.513G= c.7852G= (p.Glu2618=) | |
13 | g.32362665G>T | CA387747239 | BRCA2 | c.7948G>T (p.Glu2650Ter) c.7579G>T (p.Glu2527Ter) c.415G>T (p.Glu139Ter) c.7956G>T (n.7956G>T) c.513G>T c.7852G>T (p.Glu2618Ter) | |
13 | g.32362665_32362666delinsGA | CA2082832032 | BRCA2 | c.7948_7949delinsGA (p.Glu2650=) c.7579_7580delinsGA (p.Glu2527=) c.415_416delinsGA (p.Glu139=) c.7956_7957delinsGA (n.7956_7957delinsGA) c.513_514delinsGA c.7852_7853delinsGA (p.Glu2618=) | |
13 | g.32362666A>C | CA387747240 | BRCA2 | c.7949A>C (p.Glu2650Ala) c.7580A>C (p.Glu2527Ala) c.416A>C (p.Glu139Ala) c.7957A>C (n.7957A>C) c.514A>C c.7853A>C (p.Glu2618Ala) | |
13 | g.32362666A>G | CA387747241 | BRCA2 | c.7949A>G (p.Glu2650Gly) c.7580A>G (p.Glu2527Gly) c.416A>G (p.Glu139Gly) c.7957A>G (n.7957A>G) c.514A>G c.7853A>G (p.Glu2618Gly) | ClinVar gnomAD v4 |
13 | g.32362666A>T | CA387747242 | BRCA2 | c.7949A>T (p.Glu2650Val) c.7580A>T (p.Glu2527Val) c.416A>T (p.Glu139Val) c.7957A>T (n.7957A>T) c.514A>T c.7853A>T (p.Glu2618Val) | dbSNP |
13 | g.32362668del | CA10586583 | BRCA2 | c.7951del (p.Arg2651GlyfsTer6) c.7582del (p.Arg2528GlyfsTer6) c.418del (p.Arg140GlyfsTer6) c.7959del (n.7959del) c.516del c.7855del (p.Arg2619GlyfsTer6) | ClinVar dbSNP |
13 | g.32362667A>C | CA387747243 | BRCA2 | c.7950A>C (p.Glu2650Asp) c.7581A>C (p.Glu2527Asp) c.417A>C (p.Glu139Asp) c.7958A>C (n.7958A>C) c.515A>C c.7854A>C (p.Glu2618Asp) | |
13 | g.32362667A>G | CA483261016 | BRCA2 | c.7950A>G (p.Glu2650=) c.7581A>G (p.Glu2527=) c.417A>G (p.Glu139=) c.7958A>G (n.7958A>G) c.515A>G c.7854A>G (p.Glu2618=) | |
13 | g.32362667A>T | CA387747244 | BRCA2 | c.7950A>T (p.Glu2650Asp) c.7581A>T (p.Glu2527Asp) c.417A>T (p.Glu139Asp) c.7958A>T (n.7958A>T) c.515A>T c.7854A>T (p.Glu2618Asp) | |
13 | g.32362668A= | CA2082832040 | BRCA2 | c.7951A= (p.Arg2651=) c.7582A= (p.Arg2528=) c.418A= (p.Arg140=) c.7959A= (n.7959A=) c.516A= c.7855A= (p.Arg2619=) | |
13 | g.32362668A>C | CA483261017 | BRCA2 | c.7951A>C (p.Arg2651=) c.7582A>C (p.Arg2528=) c.418A>C (p.Arg140=) c.7959A>C (n.7959A>C) c.516A>C c.7855A>C (p.Arg2619=) | |
13 | g.32362668A>G | CA387747245 | BRCA2 | c.7951A>G (p.Arg2651Gly) c.7582A>G (p.Arg2528Gly) c.418A>G (p.Arg140Gly) c.7959A>G (n.7959A>G) c.516A>G c.7855A>G (p.Arg2619Gly) | ClinVar dbSNP |
13 | g.32362668A>T | CA387747246 | BRCA2 | c.7951A>T (p.Arg2651Trp) c.7582A>T (p.Arg2528Trp) c.418A>T (p.Arg140Trp) c.7959A>T (n.7959A>T) c.516A>T c.7855A>T (p.Arg2619Trp) | dbSNP |
13 | g.32362668_32362669delinsAG | CA2082832039 | BRCA2 | c.7951_7952delinsAG (p.Arg2651=) c.7582_7583delinsAG (p.Arg2528=) c.418_419delinsAG (p.Arg140=) c.7959_7960delinsAG (n.7959_7960delinsAG) c.516_517delinsAG c.7855_7856delinsAG (p.Arg2619=) | |
13 | g.32362669G>A | CA387747247 | BRCA2 | c.7952G>A (p.Arg2651Lys) c.7583G>A (p.Arg2528Lys) c.419G>A (p.Arg140Lys) c.7960G>A (n.7960G>A) c.517G>A c.7856G>A (p.Arg2619Lys) | dbSNP |
13 | g.32362669G>C | CA387747248 | BRCA2 | c.7952G>C (p.Arg2651Thr) c.7583G>C (p.Arg2528Thr) c.419G>C (p.Arg140Thr) c.7960G>C (n.7960G>C) c.517G>C c.7856G>C (p.Arg2619Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362669G= | CA2082832045 | BRCA2 | c.7952G= (p.Arg2651=) c.7583G= (p.Arg2528=) c.419G= (p.Arg140=) c.7960G= (n.7960G=) c.517G= c.7856G= (p.Arg2619=) | |
13 | g.32362669G>T | CA387747249 | BRCA2 | c.7952G>T (p.Arg2651Met) c.7583G>T (p.Arg2528Met) c.419G>T (p.Arg140Met) c.7960G>T (n.7960G>T) c.517G>T c.7856G>T (p.Arg2619Met) | |
13 | g.32362671dup | CA2499222314 | BRCA2 | c.7954dup (p.Val2652GlyfsTer10) c.7585dup (p.Val2529GlyfsTer10) c.421dup (p.Val141GlyfsTer10) c.7962dup (n.7962dup) c.519dup c.7858dup (p.Val2620GlyfsTer10) | |
13 | g.32362671del | CA025353 | BRCA2 | c.7954del (p.Val2652CysfsTer5) c.7585del (p.Val2529CysfsTer5) c.421del (p.Val141CysfsTer5) c.7962del (n.7962del) c.519del c.7858del (p.Val2620CysfsTer5) | ClinVar dbSNP |
13 | g.32362670G>A | CA483261023 | BRCA2 | c.7953G>A (p.Arg2651=) c.7584G>A (p.Arg2528=) c.420G>A (p.Arg140=) c.7961G>A (n.7961G>A) c.518G>A c.7857G>A (p.Arg2619=) | dbSNP |
13 | g.32362670G>C | CA387747251 | BRCA2 | c.7953G>C (p.Arg2651Ser) c.7584G>C (p.Arg2528Ser) c.420G>C (p.Arg140Ser) c.7961G>C (n.7961G>C) c.518G>C c.7857G>C (p.Arg2619Ser) | ClinVar dbSNP |
13 | g.32362670G= | CA2082832056 | BRCA2 | c.7953G= (p.Arg2651=) c.7584G= (p.Arg2528=) c.420G= (p.Arg140=) c.7961G= (n.7961G=) c.518G= c.7857G= (p.Arg2619=) | |
13 | g.32362670G>T | CA025352 | BRCA2 | c.7953G>T (p.Arg2651Ser) c.7584G>T (p.Arg2528Ser) c.420G>T (p.Arg140Ser) c.7961G>T (n.7961G>T) c.518G>T c.7857G>T (p.Arg2619Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32362671G>A | CA387747253 | BRCA2 | c.7954G>A (p.Val2652Met) c.7585G>A (p.Val2529Met) c.421G>A (p.Val141Met) c.7962G>A (n.7962G>A) c.519G>A c.7858G>A (p.Val2620Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362671G>C | CA387747256 | BRCA2 | c.7954G>C (p.Val2652Leu) c.7585G>C (p.Val2529Leu) c.421G>C (p.Val141Leu) c.7962G>C (n.7962G>C) c.519G>C c.7858G>C (p.Val2620Leu) | dbSNP |
13 | g.32362671G= | CA2082832097 | BRCA2 | c.7954G= (p.Val2652=) c.7585G= (p.Val2529=) c.421G= (p.Val141=) c.7962G= (n.7962G=) c.519G= c.7858G= (p.Val2620=) | |
13 | g.32362671G>T | CA387747258 | BRCA2 | c.7954G>T (p.Val2652Leu) c.7585G>T (p.Val2529Leu) c.421G>T (p.Val141Leu) c.7962G>T (n.7962G>T) c.519G>T c.7858G>T (p.Val2620Leu) | gnomAD v4 |