Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32350726_32358449del | CA2843744634 | BRCA2 | c.7007+3830_7805+520del c.6638+3830_7436+520del n.7007+3830_7805+520del c.6911+3830_7709+520del | |
13 | g.32357798_32357800delinsGTC | CA2082818099 | BRCA2 | c.7674_7676delinsGTC (p.Glu2558=) c.7305_7307delinsGTC (p.Glu2435=) c.141_143delinsGTC (p.Glu47=) c.239_241delinsGTC n.7674_7676delinsGTC c.7578_7580delinsGTC (p.Glu2526=) | |
13 | g.32357798_32357803delinsGTCTTT | CA2082818097 | BRCA2 | c.7674_7679delinsGTCTTT (p.Glu2558=) c.7305_7310delinsGTCTTT (p.Glu2435=) c.141_146delinsGTCTTT (p.Glu47=) c.239_244delinsGTCTTT n.7674_7679delinsGTCTTT c.7578_7583delinsGTCTTT (p.Glu2526=) | |
13 | g.32357799T>A | CA387745084 | BRCA2 | c.7675T>A (p.Ser2559Thr) c.7306T>A (p.Ser2436Thr) c.142T>A (p.Ser48Thr) c.240T>A n.7675T>A c.7579T>A (p.Ser2527Thr) | ClinVar dbSNP |
13 | g.32357799T>C | CA387745087 | BRCA2 | c.7675T>C (p.Ser2559Pro) c.7306T>C (p.Ser2436Pro) c.142T>C (p.Ser48Pro) c.240T>C n.7675T>C c.7579T>C (p.Ser2527Pro) | COSMIC COSMIC |
13 | g.32357799T>G | CA387745090 | BRCA2 | c.7675T>G (p.Ser2559Ala) c.7306T>G (p.Ser2436Ala) c.142T>G (p.Ser48Ala) c.240T>G n.7675T>G c.7579T>G (p.Ser2527Ala) | dbSNP |
13 | g.32357799T= | CA2082818116 | BRCA2 | c.7675T= (p.Ser2559=) c.7306T= (p.Ser2436=) c.142T= (p.Ser48=) c.240T= n.7675T= c.7579T= (p.Ser2527=) | |
13 | g.32357800_32357801del | CA915946875 | BRCA2 | c.7676_7677del (p.Ser2559PhefsTer6) c.7307_7308del (p.Ser2436PhefsTer6) c.143_144del (p.Ser48PhefsTer6) c.241_242del n.7676_7677del c.7580_7581del (p.Ser2527PhefsTer6) | ClinVar dbSNP |
13 | g.32357801_32357805del | CA2082818117 | BRCA2 | c.7677_7681del (p.Phe2560ValfsTer4) c.7308_7312del (p.Phe2437ValfsTer4) c.144_148del (p.Phe49ValfsTer4) c.242_246del n.7677_7681del c.7581_7585del (p.Phe2528ValfsTer4) | dbSNP |
13 | g.32357799_32357800insAAAC | CA025220 | BRCA2 | c.7675_7676insAAAC (p.Ser2559Ter) c.7306_7307insAAAC (p.Ser2436Ter) c.142_143insAAAC (p.Ser48Ter) c.240_241insAAAC n.7675_7676insAAAC c.7579_7580insAAAC (p.Ser2527Ter) | ClinVar dbSNP |
13 | g.32357800C>A | CA387745094 | BRCA2 | c.7676C>A (p.Ser2559Tyr) c.7307C>A (p.Ser2436Tyr) c.143C>A (p.Ser48Tyr) c.241C>A n.7676C>A c.7580C>A (p.Ser2527Tyr) | COSMIC COSMIC |
13 | g.32357800C= | CA2082818141 | BRCA2 | c.7676C= (p.Ser2559=) c.7307C= (p.Ser2436=) c.143C= (p.Ser48=) c.241C= n.7676C= c.7580C= (p.Ser2527=) | |
13 | g.32357800C>G | CA16614210 | BRCA2 | c.7676C>G (p.Ser2559Cys) c.7307C>G (p.Ser2436Cys) c.143C>G (p.Ser48Cys) c.241C>G n.7676C>G c.7580C>G (p.Ser2527Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357800C>T | CA387745097 | BRCA2 | c.7676C>T (p.Ser2559Phe) c.7307C>T (p.Ser2436Phe) c.143C>T (p.Ser48Phe) c.241C>T n.7676C>T c.7580C>T (p.Ser2527Phe) | ClinVar dbSNP |
13 | g.32357800_32357802delinsCTT | CA2082818134 | BRCA2 | c.7676_7678delinsCTT (p.Ser2559=) c.7307_7309delinsCTT (p.Ser2436=) c.143_145delinsCTT (p.Ser48=) c.241_243delinsCTT n.7676_7678delinsCTT c.7580_7582delinsCTT (p.Ser2527=) | |
13 | g.32357801T>A | CA483439170 | BRCA2 | c.7677T>A (p.Ser2559=) c.7308T>A (p.Ser2436=) c.144T>A (p.Ser48=) c.242T>A n.7677T>A c.7581T>A (p.Ser2527=) | dbSNP |
13 | g.32357801T>C | CA483439171 | BRCA2 | c.7677T>C (p.Ser2559=) c.7308T>C (p.Ser2436=) c.144T>C (p.Ser48=) c.242T>C n.7677T>C c.7581T>C (p.Ser2527=) | |
13 | g.32357801T>G | CA483439172 | BRCA2 | c.7677T>G (p.Ser2559=) c.7308T>G (p.Ser2436=) c.144T>G (p.Ser48=) c.242T>G n.7677T>G c.7581T>G (p.Ser2527=) | |
13 | g.32357804dup | CA025225 | BRCA2 | c.7680dup (p.Gln2561SerfsTer5) c.7311dup (p.Gln2438SerfsTer5) c.147dup (p.Gln50SerfsTer5) c.245dup n.7680dup c.7584dup (p.Gln2529SerfsTer5) | ClinVar dbSNP |
13 | g.32357804del | CA025226 | BRCA2 | c.7680del (p.Gln2561SerfsTer?) c.7311del (p.Gln2438SerfsTer?) c.147del (p.Gln50SerfsTer?) c.245del n.7680del c.7584del (p.Gln2529SerfsTer?) | ClinVar dbSNP |
13 | g.32357803_32357804del | CA025223 | BRCA2 | c.7679_7680del (p.Phe2560SerfsTer5) c.7310_7311del (p.Phe2437SerfsTer5) c.146_147del (p.Phe49SerfsTer5) c.244_245del n.7679_7680del c.7583_7584del (p.Phe2528SerfsTer5) | ClinVar dbSNP gnomAD v4 |
13 | g.32357802T>A | CA387745109 | BRCA2 | c.7678T>A (p.Phe2560Ile) c.7309T>A (p.Phe2437Ile) c.145T>A (p.Phe49Ile) c.243T>A n.7678T>A c.7582T>A (p.Phe2528Ile) | |
13 | g.32357802T>C | CA387745107 | BRCA2 | c.7678T>C (p.Phe2560Leu) c.7309T>C (p.Phe2437Leu) c.145T>C (p.Phe49Leu) c.243T>C n.7678T>C c.7582T>C (p.Phe2528Leu) | ClinVar dbSNP |
13 | g.32357802T>G | CA387745105 | BRCA2 | c.7678T>G (p.Phe2560Val) c.7309T>G (p.Phe2437Val) c.145T>G (p.Phe49Val) c.243T>G n.7678T>G c.7582T>G (p.Phe2528Val) | |
13 | g.32357802T= | CA2082818166 | BRCA2 | c.7678T= (p.Phe2560=) c.7309T= (p.Phe2437=) c.145T= (p.Phe49=) c.243T= n.7678T= c.7582T= (p.Phe2528=) | |
13 | g.32357803T>A | CA387745118 | BRCA2 | c.7679T>A (p.Phe2560Tyr) c.7310T>A (p.Phe2437Tyr) c.146T>A (p.Phe49Tyr) c.244T>A n.7679T>A c.7583T>A (p.Phe2528Tyr) | dbSNP |
13 | g.32357803T>C | CA6941130 | BRCA2 | c.7679T>C (p.Phe2560Ser) c.7310T>C (p.Phe2437Ser) c.146T>C (p.Phe49Ser) c.244T>C n.7679T>C c.7583T>C (p.Phe2528Ser) | ClinVar dbSNP ExAC |
13 | g.32357803T>G | CA387745117 | BRCA2 | c.7679T>G (p.Phe2560Cys) c.7310T>G (p.Phe2437Cys) c.146T>G (p.Phe49Cys) c.244T>G n.7679T>G c.7583T>G (p.Phe2528Cys) | dbSNP |
13 | g.32357803T= | CA2082818174 | BRCA2 | c.7679T= (p.Phe2560=) c.7310T= (p.Phe2437=) c.146T= (p.Phe49=) c.244T= n.7679T= c.7583T= (p.Phe2528=) | |
13 | g.32357804T>A | CA387745119 | BRCA2 | c.7680T>A (p.Phe2560Leu) c.7311T>A (p.Phe2437Leu) c.147T>A (p.Phe49Leu) c.245T>A n.7680T>A c.7584T>A (p.Phe2528Leu) | |
13 | g.32357804T>C | CA483439176 | BRCA2 | c.7680T>C (p.Phe2560=) c.7311T>C (p.Phe2437=) c.147T>C (p.Phe49=) c.245T>C n.7680T>C c.7584T>C (p.Phe2528=) | ClinVar dbSNP |
13 | g.32357804T>G | CA387745120 | BRCA2 | c.7680T>G (p.Phe2560Leu) c.7311T>G (p.Phe2437Leu) c.147T>G (p.Phe49Leu) c.245T>G n.7680T>G c.7584T>G (p.Phe2528Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357804T= | CA2082818178 | BRCA2 | c.7680T= (p.Phe2560=) c.7311T= (p.Phe2437=) c.147T= (p.Phe49=) c.245T= n.7680T= c.7584T= (p.Phe2528=) | |
13 | g.32357805C>A | CA387745121 | BRCA2 | c.7681C>A (p.Gln2561Lys) c.7312C>A (p.Gln2438Lys) c.148C>A (p.Gln50Lys) c.246C>A n.7681C>A c.7585C>A (p.Gln2529Lys) | ClinVar |
13 | g.32357805C= | CA2082818186 | BRCA2 | c.7681C= (p.Gln2561=) c.7312C= (p.Gln2438=) c.148C= (p.Gln50=) c.246C= n.7681C= c.7585C= (p.Gln2529=) | |
13 | g.32357805C>G | CA387745124 | BRCA2 | c.7681C>G (p.Gln2561Glu) c.7312C>G (p.Gln2438Glu) c.148C>G (p.Gln50Glu) c.246C>G n.7681C>G c.7585C>G (p.Gln2529Glu) | dbSNP |
13 | g.32357805C>T | CA025228 | BRCA2 | c.7681C>T (p.Gln2561Ter) c.7312C>T (p.Gln2438Ter) c.148C>T (p.Gln50Ter) c.246C>T n.7681C>T c.7585C>T (p.Gln2529Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32357805_32357806insT | CA025227 | BRCA2 | c.7681_7682insT (p.Gln2561LeufsTer5) c.7312_7313insT (p.Gln2438LeufsTer5) c.148_149insT (p.Gln50LeufsTer5) c.246_247insT n.7681_7682insT c.7585_7586insT (p.Gln2529LeufsTer5) | ClinVar dbSNP |
13 | g.32357806A= | CA2082818201 | BRCA2 | c.7682A= (p.Gln2561=) c.7313A= (p.Gln2438=) c.149A= (p.Gln50=) c.247A= n.7682A= c.7586A= (p.Gln2529=) | |
13 | g.32357806A>C | CA387745132 | BRCA2 | c.7682A>C (p.Gln2561Pro) c.7313A>C (p.Gln2438Pro) c.149A>C (p.Gln50Pro) c.247A>C n.7682A>C c.7586A>C (p.Gln2529Pro) | ClinVar dbSNP |
13 | g.32357806A>G | CA336029 | BRCA2 | c.7682A>G (p.Gln2561Arg) c.7313A>G (p.Gln2438Arg) c.149A>G (p.Gln50Arg) c.247A>G n.7682A>G c.7586A>G (p.Gln2529Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357806A>T | CA387745129 | BRCA2 | c.7682A>T (p.Gln2561Leu) c.7313A>T (p.Gln2438Leu) c.149A>T (p.Gln50Leu) c.247A>T n.7682A>T c.7586A>T (p.Gln2529Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32357806_32357808delinsAGT | CA2082818206 | BRCA2 | c.7682_7684delinsAGT (p.Gln2561=) c.7313_7315delinsAGT (p.Gln2438=) c.149_151delinsAGT (p.Gln50=) c.247_249delinsAGT n.7682_7684delinsAGT c.7586_7588delinsAGT (p.Gln2529=) | |
13 | g.32357807G>A | CA025229 | BRCA2 | c.7683G>A (p.Gln2561=) c.7314G>A (p.Gln2438=) c.150G>A (p.Gln50=) c.248G>A n.7683G>A c.7587G>A (p.Gln2529=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357807G>C | CA10579748 | BRCA2 | c.7683G>C (p.Gln2561His) c.7314G>C (p.Gln2438His) c.150G>C (p.Gln50His) c.248G>C n.7683G>C c.7587G>C (p.Gln2529His) | ClinVar dbSNP |
13 | g.32357807G= | CA2082818223 | BRCA2 | c.7683G= (p.Gln2561=) c.7314G= (p.Gln2438=) c.150G= (p.Gln50=) c.248G= n.7683G= c.7587G= (p.Gln2529=) | |
13 | g.32357807G>T | CA387745144 | BRCA2 | c.7683G>T (p.Gln2561His) c.7314G>T (p.Gln2438His) c.150G>T (p.Gln50His) c.248G>T n.7683G>T c.7587G>T (p.Gln2529His) | |
13 | g.32357807_32357808del | CA6941131 | BRCA2 | c.7683_7684del (p.Gln2561HisfsTer4) c.7314_7315del (p.Gln2438HisfsTer4) c.150_151del (p.Gln50HisfsTer4) c.248_249del n.7683_7684del c.7587_7588del (p.Gln2529HisfsTer4) | ClinVar dbSNP ExAC |
13 | g.32357808T>A | CA387745150 | BRCA2 | c.7684T>A (p.Phe2562Ile) c.7315T>A (p.Phe2439Ile) c.151T>A (p.Phe51Ile) c.249T>A n.7684T>A c.7588T>A (p.Phe2530Ile) | ClinVar dbSNP |
13 | g.32357808T>C | CA025230 | BRCA2 | c.7684T>C (p.Phe2562Leu) c.7315T>C (p.Phe2439Leu) c.151T>C (p.Phe51Leu) c.249T>C n.7684T>C c.7588T>C (p.Phe2530Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357808T>G | CA025231 | BRCA2 | c.7684T>G (p.Phe2562Val) c.7315T>G (p.Phe2439Val) c.151T>G (p.Phe51Val) c.249T>G n.7684T>G c.7588T>G (p.Phe2530Val) | ClinVar dbSNP |
13 | g.32357808T= | CA2082818243 | BRCA2 | c.7684T= (p.Phe2562=) c.7315T= (p.Phe2439=) c.151T= (p.Phe51=) c.249T= n.7684T= c.7588T= (p.Phe2530=) | |
13 | g.32357809T>A | CA387745152 | BRCA2 | c.7685T>A (p.Phe2562Tyr) c.7316T>A (p.Phe2439Tyr) c.152T>A (p.Phe51Tyr) c.250T>A n.7685T>A c.7589T>A (p.Phe2530Tyr) | dbSNP |
13 | g.32357809T>C | CA387745154 | BRCA2 | c.7685T>C (p.Phe2562Ser) c.7316T>C (p.Phe2439Ser) c.152T>C (p.Phe51Ser) c.250T>C n.7685T>C c.7589T>C (p.Phe2530Ser) | |
13 | g.32357809T>G | CA025232 | BRCA2 | c.7685T>G (p.Phe2562Cys) c.7316T>G (p.Phe2439Cys) c.152T>G (p.Phe51Cys) c.250T>G n.7685T>G c.7589T>G (p.Phe2530Cys) | ClinVar dbSNP |
13 | g.32357809T= | CA2082818253 | BRCA2 | c.7685T= (p.Phe2562=) c.7316T= (p.Phe2439=) c.152T= (p.Phe51=) c.250T= n.7685T= c.7589T= (p.Phe2530=) | |
13 | g.32357810T>A | CA387745159 | BRCA2 | c.7686T>A (p.Phe2562Leu) c.7317T>A (p.Phe2439Leu) c.153T>A (p.Phe51Leu) c.251T>A n.7686T>A c.7590T>A (p.Phe2530Leu) | |
13 | g.32357810T>C | CA483439180 | BRCA2 | c.7686T>C (p.Phe2562=) c.7317T>C (p.Phe2439=) c.153T>C (p.Phe51=) c.251T>C n.7686T>C c.7590T>C (p.Phe2530=) | |
13 | g.32357810T>G | CA387745161 | BRCA2 | c.7686T>G (p.Phe2562Leu) c.7317T>G (p.Phe2439Leu) c.153T>G (p.Phe51Leu) c.251T>G n.7686T>G c.7590T>G (p.Phe2530Leu) | ClinVar dbSNP |
13 | g.32357811C>A | CA387745165 | BRCA2 | c.7687C>A (p.His2563Asn) c.7318C>A (p.His2440Asn) c.154C>A (p.His52Asn) c.252C>A n.7687C>A c.7591C>A (p.His2531Asn) | |
13 | g.32357811C>G | CA387745163 | BRCA2 | c.7687C>G (p.His2563Asp) c.7318C>G (p.His2440Asp) c.154C>G (p.His52Asp) c.252C>G n.7687C>G c.7591C>G (p.His2531Asp) | |
13 | g.32357811C>T | CA387745162 | BRCA2 | c.7687C>T (p.His2563Tyr) c.7318C>T (p.His2440Tyr) c.154C>T (p.His52Tyr) c.252C>T n.7687C>T c.7591C>T (p.His2531Tyr) | ClinVar dbSNP |
13 | g.32357814_32357815del | CA2580614660 | BRCA2 | c.7690_7691del (p.Thr2564Ter) c.7321_7322del (p.Thr2441Ter) c.157_158del (p.Thr53Ter) c.255_256del n.7690_7691del c.7594_7595del (p.Thr2532Ter) | ClinVar |
13 | g.32357812A>C | CA387745168 | BRCA2 | c.7688A>C (p.His2563Pro) c.7319A>C (p.His2440Pro) c.155A>C (p.His52Pro) c.253A>C n.7688A>C c.7592A>C (p.His2531Pro) | |
13 | g.32357812A>G | CA387745173 | BRCA2 | c.7688A>G (p.His2563Arg) c.7319A>G (p.His2440Arg) c.155A>G (p.His52Arg) c.253A>G n.7688A>G c.7592A>G (p.His2531Arg) | gnomAD v4 |
13 | g.32357812A>T | CA387745174 | BRCA2 | c.7688A>T (p.His2563Leu) c.7319A>T (p.His2440Leu) c.155A>T (p.His52Leu) c.253A>T n.7688A>T c.7592A>T (p.His2531Leu) | dbSNP |
13 | g.32357812_32357813delinsAC | CA2082818264 | BRCA2 | c.7688_7689delinsAC (p.His2563=) c.7319_7320delinsAC (p.His2440=) c.155_156delinsAC (p.His52=) c.253_254delinsAC n.7688_7689delinsAC c.7592_7593delinsAC (p.His2531=) | |
13 | g.32357813del | CA025233 | BRCA2 | c.7689del (p.His2563GlnfsTer?) c.7320del (p.His2440GlnfsTer?) c.156del (p.His52GlnfsTer?) c.254del n.7689del c.7593del (p.His2531GlnfsTer?) | ClinVar dbSNP |
13 | g.32357813C>A | CA387745176 | BRCA2 | c.7689C>A (p.His2563Gln) c.7320C>A (p.His2440Gln) c.156C>A (p.His52Gln) c.254C>A n.7689C>A c.7593C>A (p.His2531Gln) | dbSNP |
13 | g.32357813C= | CA2082818274 | BRCA2 | c.7689C= (p.His2563=) c.7320C= (p.His2440=) c.156C= (p.His52=) c.254C= n.7689C= c.7593C= (p.His2531=) | |
13 | g.32357813C>G | CA387745178 | BRCA2 | c.7689C>G (p.His2563Gln) c.7320C>G (p.His2440Gln) c.156C>G (p.His52Gln) c.254C>G n.7689C>G c.7593C>G (p.His2531Gln) | dbSNP |
13 | g.32357813C>T | CA10583135 | BRCA2 | c.7689C>T (p.His2563=) c.7320C>T (p.His2440=) c.156C>T (p.His52=) c.254C>T n.7689C>T c.7593C>T (p.His2531=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357814A= | CA2082818279 | BRCA2 | c.7690A= (p.Thr2564=) c.7321A= (p.Thr2441=) c.157A= (p.Thr53=) c.255A= n.7690A= c.7594A= (p.Thr2532=) | |
13 | g.32357814A>C | CA387745185 | BRCA2 | c.7690A>C (p.Thr2564Pro) c.7321A>C (p.Thr2441Pro) c.157A>C (p.Thr53Pro) c.255A>C n.7690A>C c.7594A>C (p.Thr2532Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32357814A>G | CA387745187 | BRCA2 | c.7690A>G (p.Thr2564Ala) c.7321A>G (p.Thr2441Ala) c.157A>G (p.Thr53Ala) c.255A>G n.7690A>G c.7594A>G (p.Thr2532Ala) | |
13 | g.32357814A>T | CA387745188 | BRCA2 | c.7690A>T (p.Thr2564Ser) c.7321A>T (p.Thr2441Ser) c.157A>T (p.Thr53Ser) c.255A>T n.7690A>T c.7594A>T (p.Thr2532Ser) | dbSNP |
13 | g.32357815C>A | CA387745191 | BRCA2 | c.7691C>A (p.Thr2564Asn) c.7322C>A (p.Thr2441Asn) c.158C>A (p.Thr53Asn) c.256C>A n.7691C>A c.7595C>A (p.Thr2532Asn) | dbSNP |
13 | g.32357815C= | CA2082818287 | BRCA2 | c.7691C= (p.Thr2564=) c.7322C= (p.Thr2441=) c.158C= (p.Thr53=) c.256C= n.7691C= c.7595C= (p.Thr2532=) | |
13 | g.32357815C>G | CA6941132 | BRCA2 | c.7691C>G (p.Thr2564Ser) c.7322C>G (p.Thr2441Ser) c.158C>G (p.Thr53Ser) c.256C>G n.7691C>G c.7595C>G (p.Thr2532Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357815C>T | CA025234 | BRCA2 | c.7691C>T (p.Thr2564Ile) c.7322C>T (p.Thr2441Ile) c.158C>T (p.Thr53Ile) c.256C>T n.7691C>T c.7595C>T (p.Thr2532Ile) | ClinVar dbSNP |
13 | g.32357816T>A | CA483439185 | BRCA2 | c.7692T>A (p.Thr2564=) c.7323T>A (p.Thr2441=) c.159T>A (p.Thr53=) c.257T>A n.7692T>A c.7596T>A (p.Thr2532=) | dbSNP gnomAD v2 |
13 | g.32357816T>C | CA483439187 | BRCA2 | c.7692T>C (p.Thr2564=) c.7323T>C (p.Thr2441=) c.159T>C (p.Thr53=) c.257T>C n.7692T>C c.7596T>C (p.Thr2532=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357816T>G | CA483439186 | BRCA2 | c.7692T>G (p.Thr2564=) c.7323T>G (p.Thr2441=) c.159T>G (p.Thr53=) c.257T>G n.7692T>G c.7596T>G (p.Thr2532=) | ClinVar |
13 | g.32357816T= | CA2082818295 | BRCA2 | c.7692T= (p.Thr2564=) c.7323T= (p.Thr2441=) c.159T= (p.Thr53=) c.257T= n.7692T= c.7596T= (p.Thr2532=) | |
13 | g.32357817G>A | CA6941133 | BRCA2 | c.7693G>A (p.Glu2565Lys) c.7324G>A (p.Glu2442Lys) c.160G>A (p.Glu54Lys) c.258G>A n.7693G>A c.7597G>A (p.Glu2533Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357817G>C | CA387745197 | BRCA2 | c.7693G>C (p.Glu2565Gln) c.7324G>C (p.Glu2442Gln) c.160G>C (p.Glu54Gln) c.258G>C n.7693G>C c.7597G>C (p.Glu2533Gln) | dbSNP |
13 | g.32357817G= | CA2082818301 | BRCA2 | c.7693G= (p.Glu2565=) c.7324G= (p.Glu2442=) c.160G= (p.Glu54=) c.258G= n.7693G= c.7597G= (p.Glu2533=) | |
13 | g.32357817G>T | CA387745194 | BRCA2 | c.7693G>T (p.Glu2565Ter) c.7324G>T (p.Glu2442Ter) c.160G>T (p.Glu54Ter) c.258G>T n.7693G>T c.7597G>T (p.Glu2533Ter) | |
13 | g.32357818A>C | CA387745204 | BRCA2 | c.7694A>C (p.Glu2565Ala) c.7325A>C (p.Glu2442Ala) c.161A>C (p.Glu54Ala) c.259A>C n.7694A>C c.7598A>C (p.Glu2533Ala) | gnomAD v4 |
13 | g.32357818A>G | CA387745202 | BRCA2 | c.7694A>G (p.Glu2565Gly) c.7325A>G (p.Glu2442Gly) c.161A>G (p.Glu54Gly) c.259A>G n.7694A>G c.7598A>G (p.Glu2533Gly) | |
13 | g.32357818A>T | CA387745203 | BRCA2 | c.7694A>T (p.Glu2565Val) c.7325A>T (p.Glu2442Val) c.161A>T (p.Glu54Val) c.259A>T n.7694A>T c.7598A>T (p.Glu2533Val) | dbSNP |
13 | g.32357819A>C | CA387745205 | BRCA2 | c.7695A>C (p.Glu2565Asp) c.7326A>C (p.Glu2442Asp) c.162A>C (p.Glu54Asp) c.260A>C n.7695A>C c.7599A>C (p.Glu2533Asp) | |
13 | g.32357819A>G | CA483439188 | BRCA2 | c.7695A>G (p.Glu2565=) c.7326A>G (p.Glu2442=) c.162A>G (p.Glu54=) c.260A>G n.7695A>G c.7599A>G (p.Glu2533=) | |
13 | g.32357819A>T | CA387745206 | BRCA2 | c.7695A>T (p.Glu2565Asp) c.7326A>T (p.Glu2442Asp) c.162A>T (p.Glu54Asp) c.260A>T n.7695A>T c.7599A>T (p.Glu2533Asp) | |
13 | g.32357820G>A | CA387745208 | BRCA2 | c.7696G>A (p.Asp2566Asn) c.7327G>A (p.Asp2443Asn) c.163G>A (p.Asp55Asn) c.261G>A n.7696G>A c.7600G>A (p.Asp2534Asn) | ClinVar dbSNP |
13 | g.32357820G>C | CA387745209 | BRCA2 | c.7696G>C (p.Asp2566His) c.7327G>C (p.Asp2443His) c.163G>C (p.Asp55His) c.261G>C n.7696G>C c.7600G>C (p.Asp2534His) | dbSNP |
13 | g.32357820G= | CA2082818309 | BRCA2 | c.7696G= (p.Asp2566=) c.7327G= (p.Asp2443=) c.163G= (p.Asp55=) c.261G= n.7696G= c.7600G= (p.Asp2534=) | |
13 | g.32357820G>T | CA025235 | BRCA2 | c.7696G>T (p.Asp2566Tyr) c.7327G>T (p.Asp2443Tyr) c.163G>T (p.Asp55Tyr) c.261G>T n.7696G>T c.7600G>T (p.Asp2534Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32357821A>C | CA387745216 | BRCA2 | c.7697A>C (p.Asp2566Ala) c.7328A>C (p.Asp2443Ala) c.164A>C (p.Asp55Ala) c.262A>C n.7697A>C c.7601A>C (p.Asp2534Ala) | |
13 | g.32357821A>G | CA387745220 | BRCA2 | c.7697A>G (p.Asp2566Gly) c.7328A>G (p.Asp2443Gly) c.164A>G (p.Asp55Gly) c.262A>G n.7697A>G c.7601A>G (p.Asp2534Gly) | ClinVar |
13 | g.32357821A>T | CA387745228 | BRCA2 | c.7697A>T (p.Asp2566Val) c.7328A>T (p.Asp2443Val) c.164A>T (p.Asp55Val) c.262A>T n.7697A>T c.7601A>T (p.Asp2534Val) | gnomAD v4 |
13 | g.32357821dup | CA025236 | BRCA2 | c.7697dup (p.Asp2566GlufsTer5) c.7328dup (p.Asp2443GlufsTer5) c.164dup (p.Asp55GlufsTer5) c.262dup n.7697dup c.7601dup (p.Asp2534GlufsTer5) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32357822T>A | CA387745232 | BRCA2 | c.7698T>A (p.Asp2566Glu) c.7329T>A (p.Asp2443Glu) c.165T>A (p.Asp55Glu) c.263T>A n.7698T>A c.7602T>A (p.Asp2534Glu) | dbSNP |
13 | g.32357822T>C | CA483439189 | BRCA2 | c.7698T>C (p.Asp2566=) c.7329T>C (p.Asp2443=) c.165T>C (p.Asp55=) c.263T>C n.7698T>C c.7602T>C (p.Asp2534=) | |
13 | g.32357822T>G | CA387745234 | BRCA2 | c.7698T>G (p.Asp2566Glu) c.7329T>G (p.Asp2443Glu) c.165T>G (p.Asp55Glu) c.263T>G n.7698T>G c.7602T>G (p.Asp2534Glu) | ClinVar dbSNP |
13 | g.32357822T= | CA2082818324 | BRCA2 | c.7698T= (p.Asp2566=) c.7329T= (p.Asp2443=) c.165T= (p.Asp55=) c.263T= n.7698T= c.7602T= (p.Asp2534=) | |
13 | g.32357823T>A | CA387745242 | BRCA2 | c.7699T>A (p.Tyr2567Asn) c.7330T>A (p.Tyr2444Asn) c.166T>A (p.Tyr56Asn) c.264T>A n.7699T>A c.7603T>A (p.Tyr2535Asn) | |
13 | g.32357823T>C | CA387745237 | BRCA2 | c.7699T>C (p.Tyr2567His) c.7330T>C (p.Tyr2444His) c.166T>C (p.Tyr56His) c.264T>C n.7699T>C c.7603T>C (p.Tyr2535His) | ClinVar dbSNP |
13 | g.32357823T>G | CA387745240 | BRCA2 | c.7699T>G (p.Tyr2567Asp) c.7330T>G (p.Tyr2444Asp) c.166T>G (p.Tyr56Asp) c.264T>G n.7699T>G c.7603T>G (p.Tyr2535Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32357823T= | CA2082818337 | BRCA2 | c.7699T= (p.Tyr2567=) c.7330T= (p.Tyr2444=) c.166T= (p.Tyr56=) c.264T= n.7699T= c.7603T= (p.Tyr2535=) | |
13 | g.32357824del | CA2580087341 | BRCA2 | c.7700del (p.Tyr2567PhefsTer?) c.7331del (p.Tyr2444PhefsTer?) c.167del (p.Tyr56PhefsTer?) c.265del n.7700del c.7604del (p.Tyr2535PhefsTer?) | ClinVar |
13 | g.32357824A= | CA2082818351 | BRCA2 | c.7700A= (p.Tyr2567=) c.7331A= (p.Tyr2444=) c.167A= (p.Tyr56=) c.265A= n.7700A= c.7604A= (p.Tyr2535=) | |
13 | g.32357824A>C | CA387745245 | BRCA2 | c.7700A>C (p.Tyr2567Ser) c.7331A>C (p.Tyr2444Ser) c.167A>C (p.Tyr56Ser) c.265A>C n.7700A>C c.7604A>C (p.Tyr2535Ser) | |
13 | g.32357824A>G | CA387745247 | BRCA2 | c.7700A>G (p.Tyr2567Cys) c.7331A>G (p.Tyr2444Cys) c.167A>G (p.Tyr56Cys) c.265A>G n.7700A>G c.7604A>G (p.Tyr2535Cys) | |
13 | g.32357824A>T | CA025237 | BRCA2 | c.7700A>T (p.Tyr2567Phe) c.7331A>T (p.Tyr2444Phe) c.167A>T (p.Tyr56Phe) c.265A>T n.7700A>T c.7604A>T (p.Tyr2535Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32357825T>A | CA387745255 | BRCA2 | c.7701T>A (p.Tyr2567Ter) c.7332T>A (p.Tyr2444Ter) c.168T>A (p.Tyr56Ter) c.266T>A n.7701T>A c.7605T>A (p.Tyr2535Ter) | ClinVar dbSNP |
13 | g.32357825T>C | CA483439191 | BRCA2 | c.7701T>C (p.Tyr2567=) c.7332T>C (p.Tyr2444=) c.168T>C (p.Tyr56=) c.266T>C n.7701T>C c.7605T>C (p.Tyr2535=) | ClinVar dbSNP |
13 | g.32357825T>G | CA387745258 | BRCA2 | c.7701T>G (p.Tyr2567Ter) c.7332T>G (p.Tyr2444Ter) c.168T>G (p.Tyr56Ter) c.266T>G n.7701T>G c.7605T>G (p.Tyr2535Ter) | ClinVar dbSNP |
13 | g.32357825T= | CA2082818357 | BRCA2 | c.7701T= (p.Tyr2567=) c.7332T= (p.Tyr2444=) c.168T= (p.Tyr56=) c.266T= n.7701T= c.7605T= (p.Tyr2535=) | |
13 | g.32357828dup | CA2580087344 | BRCA2 | c.7704dup (p.Gly2569TrpfsTer2) c.7335dup (p.Gly2446TrpfsTer2) c.171dup (p.Gly58TrpfsTer2) c.269dup n.7704dup c.7608dup (p.Gly2537TrpfsTer2) | ClinVar |
13 | g.32357828del | CA2580087345 | BRCA2 | c.7704del (p.Phe2568LeufsTer?) c.7335del (p.Phe2445LeufsTer?) c.171del (p.Phe57LeufsTer?) c.269del n.7704del c.7608del (p.Phe2536LeufsTer?) | ClinVar |
13 | g.32357827_32357828del | CA2499222303 | BRCA2 | c.7703_7704del (p.Phe2568TrpfsTer2) c.7334_7335del (p.Phe2445TrpfsTer2) c.170_171del (p.Phe57TrpfsTer2) c.268_269del n.7703_7704del c.7607_7608del (p.Phe2536TrpfsTer2) | |
13 | g.32357826T>A | CA387745262 | BRCA2 | c.7702T>A (p.Phe2568Ile) c.7333T>A (p.Phe2445Ile) c.169T>A (p.Phe57Ile) c.267T>A n.7702T>A c.7606T>A (p.Phe2536Ile) | |
13 | g.32357826T>C | CA387745263 | BRCA2 | c.7702T>C (p.Phe2568Leu) c.7333T>C (p.Phe2445Leu) c.169T>C (p.Phe57Leu) c.267T>C n.7702T>C c.7606T>C (p.Phe2536Leu) | |
13 | g.32357826T>G | CA387745264 | BRCA2 | c.7702T>G (p.Phe2568Val) c.7333T>G (p.Phe2445Val) c.169T>G (p.Phe57Val) c.267T>G n.7702T>G c.7606T>G (p.Phe2536Val) | |
13 | g.32357826_32357827insG | CA2695217920 | BRCA2 | c.7702_7703insG (p.Phe2568CysfsTer3) c.7333_7334insG (p.Phe2445CysfsTer3) c.169_170insG (p.Phe57CysfsTer3) c.267_268insG n.7702_7703insG c.7606_7607insG (p.Phe2536CysfsTer3) | |
13 | g.32357827T>A | CA387745265 | BRCA2 | c.7703T>A (p.Phe2568Tyr) c.7334T>A (p.Phe2445Tyr) c.170T>A (p.Phe57Tyr) c.268T>A n.7703T>A c.7607T>A (p.Phe2536Tyr) | |
13 | g.32357827T>C | CA387745266 | BRCA2 | c.7703T>C (p.Phe2568Ser) c.7334T>C (p.Phe2445Ser) c.170T>C (p.Phe57Ser) c.268T>C n.7703T>C c.7607T>C (p.Phe2536Ser) | |
13 | g.32357827T>G | CA387745271 | BRCA2 | c.7703T>G (p.Phe2568Cys) c.7334T>G (p.Phe2445Cys) c.170T>G (p.Phe57Cys) c.268T>G n.7703T>G c.7607T>G (p.Phe2536Cys) | COSMIC COSMIC |
13 | g.32357828T>A | CA387745273 | BRCA2 | c.7704T>A (p.Phe2568Leu) c.7335T>A (p.Phe2445Leu) c.171T>A (p.Phe57Leu) c.269T>A n.7704T>A c.7608T>A (p.Phe2536Leu) | |
13 | g.32357828T>C | CA483439193 | BRCA2 | c.7704T>C (p.Phe2568=) c.7335T>C (p.Phe2445=) c.171T>C (p.Phe57=) c.269T>C n.7704T>C c.7608T>C (p.Phe2536=) | |
13 | g.32357828T>G | CA387745278 | BRCA2 | c.7704T>G (p.Phe2568Leu) c.7335T>G (p.Phe2445Leu) c.171T>G (p.Phe57Leu) c.269T>G n.7704T>G c.7608T>G (p.Phe2536Leu) | |
13 | g.32357828_32357829delinsTG | CA2082818366 | BRCA2 | c.7704_7705delinsTG (p.Phe2568=) c.7335_7336delinsTG (p.Phe2445=) c.171_172delinsTG (p.Phe57=) c.269_270delinsTG n.7704_7705delinsTG c.7608_7609delinsTG (p.Phe2536=) | |
13 | g.32357829G>A | CA387745284 | BRCA2 | c.7705G>A (p.Gly2569Ser) c.7336G>A (p.Gly2446Ser) c.172G>A (p.Gly58Ser) c.270G>A n.7705G>A c.7609G>A (p.Gly2537Ser) | ClinVar dbSNP |
13 | g.32357829G>C | CA387745290 | BRCA2 | c.7705G>C (p.Gly2569Arg) c.7336G>C (p.Gly2446Arg) c.172G>C (p.Gly58Arg) c.270G>C n.7705G>C c.7609G>C (p.Gly2537Arg) | dbSNP |
13 | g.32357829G= | CA2082818377 | BRCA2 | c.7705G= (p.Gly2569=) c.7336G= (p.Gly2446=) c.172G= (p.Gly58=) c.270G= n.7705G= c.7609G= (p.Gly2537=) | |
13 | g.32357829G>T | CA387745286 | BRCA2 | c.7705G>T (p.Gly2569Cys) c.7336G>T (p.Gly2446Cys) c.172G>T (p.Gly58Cys) c.270G>T n.7705G>T c.7609G>T (p.Gly2537Cys) | ClinVar dbSNP |
13 | g.32357830del | CA10586580 | BRCA2 | c.7706del (p.Gly2569ValfsTer?) c.7337del (p.Gly2446ValfsTer?) c.173del (p.Gly58ValfsTer?) c.271del n.7706del c.7610del (p.Gly2537ValfsTer?) | ClinVar dbSNP |
13 | g.32357829_32357838delinsGGTAAGGAAA | CA2082818379 | BRCA2 | c.7705_7714delinsGGTAAGGAAA (p.Gly2569=) c.7336_7345delinsGGTAAGGAAA (p.Gly2446=) c.172_181delinsGGTAAGGAAA (p.Gly58=) c.270_279delinsGGTAAGGAAA n.7705_7714delinsGGTAAGGAAA c.7609_7618delinsGGTAAGGAAA (p.Gly2537=) | |
13 | g.32357830G>A | CA025238 | BRCA2 | c.7706G>A (p.Gly2569Asp) c.7337G>A (p.Gly2446Asp) c.173G>A (p.Gly58Asp) c.271G>A n.7706G>A c.7610G>A (p.Gly2537Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357830G>C | CA387745306 | BRCA2 | c.7706G>C (p.Gly2569Ala) c.7337G>C (p.Gly2446Ala) c.173G>C (p.Gly58Ala) c.271G>C n.7706G>C c.7610G>C (p.Gly2537Ala) | dbSNP |
13 | g.32357830G= | CA2082818386 | BRCA2 | c.7706G= (p.Gly2569=) c.7337G= (p.Gly2446=) c.173G= (p.Gly58=) c.271G= n.7706G= c.7610G= (p.Gly2537=) | |
13 | g.32357830G>T | CA387745313 | BRCA2 | c.7706G>T (p.Gly2569Val) c.7337G>T (p.Gly2446Val) c.173G>T (p.Gly58Val) c.271G>T n.7706G>T c.7610G>T (p.Gly2537Val) | dbSNP |
13 | g.32357830_32357831delinsGT | CA2082818385 | BRCA2 | c.7706_7707delinsGT (p.Gly2569=) c.7337_7338delinsGT (p.Gly2446=) c.173_174delinsGT (p.Gly58=) c.271_272delinsGT n.7706_7707delinsGT c.7610_7611delinsGT (p.Gly2537=) | |
13 | g.32357832_32357840del | CA6941134 | BRCA2 | c.7708_7716del (p.Lys2570_Ser2572del) c.7339_7347del (p.Lys2447_Ser2449del) c.175_183del (p.Lys59_Ser61del) c.273_281del n.7708_7716del c.7612_7620del (p.Lys2538_Ser2540del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357831del | CA025239 | BRCA2 | c.7707del (p.Lys2570ArgfsTer?) c.7338del (p.Lys2447ArgfsTer?) c.174del (p.Lys59ArgfsTer?) c.272del n.7707del c.7611del (p.Lys2538ArgfsTer?) | ClinVar dbSNP |
13 | g.32357831T>A | CA483439196 | BRCA2 | c.7707T>A (p.Gly2569=) c.7338T>A (p.Gly2446=) c.174T>A (p.Gly58=) c.272T>A n.7707T>A c.7611T>A (p.Gly2537=) | |
13 | g.32357831T>C | CA483439194 | BRCA2 | c.7707T>C (p.Gly2569=) c.7338T>C (p.Gly2446=) c.174T>C (p.Gly58=) c.272T>C n.7707T>C c.7611T>C (p.Gly2537=) | |
13 | g.32357831T>G | CA483439195 | BRCA2 | c.7707T>G (p.Gly2569=) c.7338T>G (p.Gly2446=) c.174T>G (p.Gly58=) c.272T>G n.7707T>G c.7611T>G (p.Gly2537=) | |
13 | g.32357832A= | CA2082818402 | BRCA2 | c.7708A= (p.Lys2570=) c.7339A= (p.Lys2447=) c.175A= (p.Lys59=) c.273A= n.7708A= c.7612A= (p.Lys2538=) | |
13 | g.32357832A>C | CA387745321 | BRCA2 | c.7708A>C (p.Lys2570Gln) c.7339A>C (p.Lys2447Gln) c.175A>C (p.Lys59Gln) c.273A>C n.7708A>C c.7612A>C (p.Lys2538Gln) | |
13 | g.32357832A>G | CA10579749 | BRCA2 | c.7708A>G (p.Lys2570Glu) c.7339A>G (p.Lys2447Glu) c.175A>G (p.Lys59Glu) c.273A>G n.7708A>G c.7612A>G (p.Lys2538Glu) | ClinVar dbSNP |
13 | g.32357832A>T | CA10589447 | BRCA2 | c.7708A>T (p.Lys2570Ter) c.7339A>T (p.Lys2447Ter) c.175A>T (p.Lys59Ter) c.273A>T n.7708A>T c.7612A>T (p.Lys2538Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32357833A= | CA2082818413 | BRCA2 | c.7709A= (p.Lys2570=) c.7340A= (p.Lys2447=) c.176A= (p.Lys59=) c.274A= n.7709A= c.7613A= (p.Lys2538=) | |
13 | g.32357833A>C | CA387745328 | BRCA2 | c.7709A>C (p.Lys2570Thr) c.7340A>C (p.Lys2447Thr) c.176A>C (p.Lys59Thr) c.274A>C n.7709A>C c.7613A>C (p.Lys2538Thr) | gnomAD v4 |
13 | g.32357833A>G | CA025240 | BRCA2 | c.7709A>G (p.Lys2570Arg) c.7340A>G (p.Lys2447Arg) c.176A>G (p.Lys59Arg) c.274A>G n.7709A>G c.7613A>G (p.Lys2538Arg) | ClinVar dbSNP |
13 | g.32357833A>T | CA387745334 | BRCA2 | c.7709A>T (p.Lys2570Met) c.7340A>T (p.Lys2447Met) c.176A>T (p.Lys59Met) c.274A>T n.7709A>T c.7613A>T (p.Lys2538Met) | dbSNP |
13 | g.32357834G>A | CA483439198 | BRCA2 | c.7710G>A (p.Lys2570=) c.7341G>A (p.Lys2447=) c.177G>A (p.Lys59=) c.275G>A n.7710G>A c.7614G>A (p.Lys2538=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357834G>C | CA387745335 | BRCA2 | c.7710G>C (p.Lys2570Asn) c.7341G>C (p.Lys2447Asn) c.177G>C (p.Lys59Asn) c.275G>C n.7710G>C c.7614G>C (p.Lys2538Asn) | ClinVar dbSNP |
13 | g.32357834G>T | CA387745336 | BRCA2 | c.7710G>T (p.Lys2570Asn) c.7341G>T (p.Lys2447Asn) c.177G>T (p.Lys59Asn) c.275G>T n.7710G>T c.7614G>T (p.Lys2538Asn) | |
13 | g.32357835dup | CA2695199706 | BRCA2 | c.7711dup (p.Glu2571GlyfsTer13) c.7342dup (p.Glu2448GlyfsTer13) c.178dup (p.Glu60GlyfsTer13) c.276dup n.7711dup c.7615dup (p.Glu2539GlyfsTer13) | ClinVar |
13 | g.32357835G>A | CA10579750 | BRCA2 | c.7711G>A (p.Glu2571Lys) c.7342G>A (p.Glu2448Lys) c.178G>A (p.Glu60Lys) c.276G>A n.7711G>A c.7615G>A (p.Glu2539Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357835G>C | CA387745347 | BRCA2 | c.7711G>C (p.Glu2571Gln) c.7342G>C (p.Glu2448Gln) c.178G>C (p.Glu60Gln) c.276G>C n.7711G>C c.7615G>C (p.Glu2539Gln) | dbSNP |
13 | g.32357835G= | CA2082818420 | BRCA2 | c.7711G= (p.Glu2571=) c.7342G= (p.Glu2448=) c.178G= (p.Glu60=) c.276G= n.7711G= c.7615G= (p.Glu2539=) | |
13 | g.32357835G>T | CA387745341 | BRCA2 | c.7711G>T (p.Glu2571Ter) c.7342G>T (p.Glu2448Ter) c.178G>T (p.Glu60Ter) c.276G>T n.7711G>T c.7615G>T (p.Glu2539Ter) | dbSNP |
13 | g.32357836A= | CA2082818428 | BRCA2 | c.7712A= (p.Glu2571=) c.7343A= (p.Glu2448=) c.179A= (p.Glu60=) c.277A= n.7712A= c.7616A= (p.Glu2539=) | |
13 | g.32357836A>C | CA387745363 | BRCA2 | c.7712A>C (p.Glu2571Ala) c.7343A>C (p.Glu2448Ala) c.179A>C (p.Glu60Ala) c.277A>C n.7712A>C c.7616A>C (p.Glu2539Ala) | dbSNP |
13 | g.32357836A>G | CA025242 | BRCA2 | c.7712A>G (p.Glu2571Gly) c.7343A>G (p.Glu2448Gly) c.179A>G (p.Glu60Gly) c.277A>G n.7712A>G c.7616A>G (p.Glu2539Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357836A>T | CA387745364 | BRCA2 | c.7712A>T (p.Glu2571Val) c.7343A>T (p.Glu2448Val) c.179A>T (p.Glu60Val) c.277A>T n.7712A>T c.7616A>T (p.Glu2539Val) | ClinVar dbSNP |
13 | g.32357837A>C | CA387745365 | BRCA2 | c.7713A>C (p.Glu2571Asp) c.7344A>C (p.Glu2448Asp) c.180A>C (p.Glu60Asp) c.278A>C n.7713A>C c.7617A>C (p.Glu2539Asp) | |
13 | g.32357837A>G | CA483439202 | BRCA2 | c.7713A>G (p.Glu2571=) c.7344A>G (p.Glu2448=) c.180A>G (p.Glu60=) c.278A>G n.7713A>G c.7617A>G (p.Glu2539=) | ClinVar |
13 | g.32357837A>T | CA387745366 | BRCA2 | c.7713A>T (p.Glu2571Asp) c.7344A>T (p.Glu2448Asp) c.180A>T (p.Glu60Asp) c.278A>T n.7713A>T c.7617A>T (p.Glu2539Asp) | |
13 | g.32357838A= | CA2082818439 | BRCA2 | c.7714A= (p.Ser2572=) c.7345A= (p.Ser2449=) c.181A= (p.Ser61=) c.279A= n.7714A= c.7618A= (p.Ser2540=) | |
13 | g.32357838A>C | CA16614353 | BRCA2 | c.7714A>C (p.Ser2572Arg) c.7345A>C (p.Ser2449Arg) c.181A>C (p.Ser61Arg) c.279A>C n.7714A>C c.7618A>C (p.Ser2540Arg) | ClinVar dbSNP |
13 | g.32357838A>G | CA387745375 | BRCA2 | c.7714A>G (p.Ser2572Gly) c.7345A>G (p.Ser2449Gly) c.181A>G (p.Ser61Gly) c.279A>G n.7714A>G c.7618A>G (p.Ser2540Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357838A>T | CA387745377 | BRCA2 | c.7714A>T (p.Ser2572Cys) c.7345A>T (p.Ser2449Cys) c.181A>T (p.Ser61Cys) c.279A>T n.7714A>T c.7618A>T (p.Ser2540Cys) | |
13 | g.32357839G>A | CA387745382 | BRCA2 | c.7715G>A (p.Ser2572Asn) c.7346G>A (p.Ser2449Asn) c.182G>A (p.Ser61Asn) c.280G>A n.7715G>A c.7619G>A (p.Ser2540Asn) | ClinVar dbSNP |
13 | g.32357839G>C | CA387745395 | BRCA2 | c.7715G>C (p.Ser2572Thr) c.7346G>C (p.Ser2449Thr) c.182G>C (p.Ser61Thr) c.280G>C n.7715G>C c.7619G>C (p.Ser2540Thr) | |
13 | g.32357839G= | CA2082818445 | BRCA2 | c.7715G= (p.Ser2572=) c.7346G= (p.Ser2449=) c.182G= (p.Ser61=) c.280G= n.7715G= c.7619G= (p.Ser2540=) | |
13 | g.32357839G>T | CA387745396 | BRCA2 | c.7715G>T (p.Ser2572Ile) c.7346G>T (p.Ser2449Ile) c.182G>T (p.Ser61Ile) c.280G>T n.7715G>T c.7619G>T (p.Ser2540Ile) | |
13 | g.32357840T>A | CA387745406 | BRCA2 | c.7716T>A (p.Ser2572Arg) c.7347T>A (p.Ser2449Arg) c.183T>A (p.Ser61Arg) c.281T>A n.7716T>A c.7620T>A (p.Ser2540Arg) | dbSNP |
13 | g.32357840T>C | CA483439203 | BRCA2 | c.7716T>C (p.Ser2572=) c.7347T>C (p.Ser2449=) c.183T>C (p.Ser61=) c.281T>C n.7716T>C c.7620T>C (p.Ser2540=) | ClinVar dbSNP |
13 | g.32357840T>G | CA387745401 | BRCA2 | c.7716T>G (p.Ser2572Arg) c.7347T>G (p.Ser2449Arg) c.183T>G (p.Ser61Arg) c.281T>G n.7716T>G c.7620T>G (p.Ser2540Arg) | dbSNP |
13 | g.32357840T= | CA2082818449 | BRCA2 | c.7716T= (p.Ser2572=) c.7347T= (p.Ser2449=) c.183T= (p.Ser61=) c.281T= n.7716T= c.7620T= (p.Ser2540=) | |
13 | g.32357842del | CA2580087353 | BRCA2 | c.7718del (p.Leu2573TyrfsTer?) c.7349del (p.Leu2450TyrfsTer?) c.185del (p.Leu62TyrfsTer?) c.283del n.7718del c.7622del (p.Leu2541TyrfsTer?) | ClinVar |
13 | g.32357841_32357842del | CA2573149410 | BRCA2 | c.7717_7718del (p.Leu2573MetfsTer10) c.7348_7349del (p.Leu2450MetfsTer10) c.184_185del (p.Leu62MetfsTer10) c.282_283del n.7717_7718del c.7621_7622del (p.Leu2541MetfsTer10) | ClinVar dbSNP |
13 | g.32357841T>A | CA387745410 | BRCA2 | c.7717T>A (p.Leu2573Ile) c.7348T>A (p.Leu2450Ile) c.184T>A (p.Leu62Ile) c.282T>A n.7717T>A c.7621T>A (p.Leu2541Ile) | |
13 | g.32357841T>C | CA483439204 | BRCA2 | c.7717T>C (p.Leu2573=) c.7348T>C (p.Leu2450=) c.184T>C (p.Leu62=) c.282T>C n.7717T>C c.7621T>C (p.Leu2541=) | |
13 | g.32357841T>G | CA387745412 | BRCA2 | c.7717T>G (p.Leu2573Val) c.7348T>G (p.Leu2450Val) c.184T>G (p.Leu62Val) c.282T>G n.7717T>G c.7621T>G (p.Leu2541Val) | dbSNP |
13 | g.32357842T>A | CA387745427 | BRCA2 | c.7718T>A (p.Leu2573Ter) c.7349T>A (p.Leu2450Ter) c.185T>A (p.Leu62Ter) c.283T>A n.7718T>A c.7622T>A (p.Leu2541Ter) | dbSNP |
13 | g.32357842T>C | CA387745430 | BRCA2 | c.7718T>C (p.Leu2573Ser) c.7349T>C (p.Leu2450Ser) c.185T>C (p.Leu62Ser) c.283T>C n.7718T>C c.7622T>C (p.Leu2541Ser) | |
13 | g.32357842T>G | CA025244 | BRCA2 | c.7718T>G (p.Leu2573Ter) c.7349T>G (p.Leu2450Ter) c.185T>G (p.Leu62Ter) c.283T>G n.7718T>G c.7622T>G (p.Leu2541Ter) | ClinVar dbSNP |
13 | g.32357842T= | CA2082818458 | BRCA2 | c.7718T= (p.Leu2573=) c.7349T= (p.Leu2450=) c.185T= (p.Leu62=) c.283T= n.7718T= c.7622T= (p.Leu2541=) | |
13 | g.32357843A>C | CA387745438 | BRCA2 | c.7719A>C (p.Leu2573Phe) c.7350A>C (p.Leu2450Phe) c.186A>C (p.Leu62Phe) c.284A>C n.7719A>C c.7623A>C (p.Leu2541Phe) | |
13 | g.32357843A>G | CA483439206 | BRCA2 | c.7719A>G (p.Leu2573=) c.7350A>G (p.Leu2450=) c.186A>G (p.Leu62=) c.284A>G n.7719A>G c.7623A>G (p.Leu2541=) | ClinVar |
13 | g.32357843A>T | CA387745439 | BRCA2 | c.7719A>T (p.Leu2573Phe) c.7350A>T (p.Leu2450Phe) c.186A>T (p.Leu62Phe) c.284A>T n.7719A>T c.7623A>T (p.Leu2541Phe) | dbSNP |
13 | g.32357843dup | CA025245 | BRCA2 | c.7719dup (p.Trp2574MetfsTer10) c.7350dup (p.Trp2451MetfsTer10) c.186dup (p.Trp63MetfsTer10) c.284dup n.7719dup c.7623dup (p.Trp2542MetfsTer10) | ClinVar dbSNP |
13 | g.32357844T>A | CA387745446 | BRCA2 | c.7720T>A (p.Trp2574Arg) c.7351T>A (p.Trp2451Arg) c.187T>A (p.Trp63Arg) c.285T>A n.7720T>A c.7624T>A (p.Trp2542Arg) | |
13 | g.32357844T>C | CA025246 | BRCA2 | c.7720T>C (p.Trp2574Arg) c.7351T>C (p.Trp2451Arg) c.187T>C (p.Trp63Arg) c.285T>C n.7720T>C c.7624T>C (p.Trp2542Arg) | ClinVar dbSNP |
13 | g.32357844T>G | CA387745449 | BRCA2 | c.7720T>G (p.Trp2574Gly) c.7351T>G (p.Trp2451Gly) c.187T>G (p.Trp63Gly) c.285T>G n.7720T>G c.7624T>G (p.Trp2542Gly) | |
13 | g.32357844T= | CA2082818472 | BRCA2 | c.7720T= (p.Trp2574=) c.7351T= (p.Trp2451=) c.187T= (p.Trp63=) c.285T= n.7720T= c.7624T= (p.Trp2542=) | |
13 | g.32357845G>A | CA025247 | BRCA2 | c.7721G>A (p.Trp2574Ter) c.7352G>A (p.Trp2451Ter) c.188G>A (p.Trp63Ter) c.286G>A n.7721G>A c.7625G>A (p.Trp2542Ter) | ClinVar dbSNP |
13 | g.32357845G>C | CA387745450 | BRCA2 | c.7721G>C (p.Trp2574Ser) c.7352G>C (p.Trp2451Ser) c.188G>C (p.Trp63Ser) c.286G>C n.7721G>C c.7625G>C (p.Trp2542Ser) | dbSNP |
13 | g.32357845G= | CA2082818479 | BRCA2 | c.7721G= (p.Trp2574=) c.7352G= (p.Trp2451=) c.188G= (p.Trp63=) c.286G= n.7721G= c.7625G= (p.Trp2542=) | |
13 | g.32357845G>T | CA387745451 | BRCA2 | c.7721G>T (p.Trp2574Leu) c.7352G>T (p.Trp2451Leu) c.188G>T (p.Trp63Leu) c.286G>T n.7721G>T c.7625G>T (p.Trp2542Leu) | |
13 | g.32357846G>A | CA16614212 | BRCA2 | c.7722G>A (p.Trp2574Ter) c.7353G>A (p.Trp2451Ter) c.189G>A (p.Trp63Ter) c.287G>A n.7722G>A c.7626G>A (p.Trp2542Ter) | ClinVar dbSNP |
13 | g.32357846G>C | CA387745454 | BRCA2 | c.7722G>C (p.Trp2574Cys) c.7353G>C (p.Trp2451Cys) c.189G>C (p.Trp63Cys) c.287G>C n.7722G>C c.7626G>C (p.Trp2542Cys) | dbSNP |
13 | g.32357846G= | CA2082818489 | BRCA2 | c.7722G= (p.Trp2574=) c.7353G= (p.Trp2451=) c.189G= (p.Trp63=) c.287G= n.7722G= c.7626G= (p.Trp2542=) | |
13 | g.32357846G>T | CA387745455 | BRCA2 | c.7722G>T (p.Trp2574Cys) c.7353G>T (p.Trp2451Cys) c.189G>T (p.Trp63Cys) c.287G>T n.7722G>T c.7626G>T (p.Trp2542Cys) | ClinVar dbSNP |
13 | g.32357847_32357906dup | CA2580614662 | BRCA2 | c.7723_7782dup (p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.7354_7413dup (p.Lys2471_Ala2472insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.190_249dup (p.Lys83_Ala84insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.288_347dup n.7723_7782dup c.7627_7686dup (p.Lys2562_Ala2563insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) | ClinVar |
13 | g.32357847A= | CA2082818510 | BRCA2 | c.7723A= (p.Thr2575=) c.7354A= (p.Thr2452=) c.190A= (p.Thr64=) c.288A= n.7723A= c.7627A= (p.Thr2543=) | |
13 | g.32357847A>C | CA387745463 | BRCA2 | c.7723A>C (p.Thr2575Pro) c.7354A>C (p.Thr2452Pro) c.190A>C (p.Thr64Pro) c.288A>C n.7723A>C c.7627A>C (p.Thr2543Pro) | |
13 | g.32357847A>G | CA16619767 | BRCA2 | c.7723A>G (p.Thr2575Ala) c.7354A>G (p.Thr2452Ala) c.190A>G (p.Thr64Ala) c.288A>G n.7723A>G c.7627A>G (p.Thr2543Ala) | ClinVar dbSNP |
13 | g.32357847A>T | CA387745467 | BRCA2 | c.7723A>T (p.Thr2575Ser) c.7354A>T (p.Thr2452Ser) c.190A>T (p.Thr64Ser) c.288A>T n.7723A>T c.7627A>T (p.Thr2543Ser) | dbSNP |
13 | g.32357848C>A | CA387745471 | BRCA2 | c.7724C>A (p.Thr2575Asn) c.7355C>A (p.Thr2452Asn) c.191C>A (p.Thr64Asn) c.289C>A n.7724C>A c.7628C>A (p.Thr2543Asn) | dbSNP |
13 | g.32357848C>G | CA387745474 | BRCA2 | c.7724C>G (p.Thr2575Ser) c.7355C>G (p.Thr2452Ser) c.191C>G (p.Thr64Ser) c.289C>G n.7724C>G c.7628C>G (p.Thr2543Ser) | dbSNP |
13 | g.32357848C>T | CA387745482 | BRCA2 | c.7724C>T (p.Thr2575Ile) c.7355C>T (p.Thr2452Ile) c.191C>T (p.Thr64Ile) c.289C>T n.7724C>T c.7628C>T (p.Thr2543Ile) | |
13 | g.32357849T>A | CA483439208 | BRCA2 | c.7725T>A (p.Thr2575=) c.7356T>A (p.Thr2452=) c.192T>A (p.Thr64=) c.290T>A n.7725T>A c.7629T>A (p.Thr2543=) | |
13 | g.32357849T>C | CA483439209 | BRCA2 | c.7725T>C (p.Thr2575=) c.7356T>C (p.Thr2452=) c.192T>C (p.Thr64=) c.290T>C n.7725T>C c.7629T>C (p.Thr2543=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357849T>G | CA483439210 | BRCA2 | c.7725T>G (p.Thr2575=) c.7356T>G (p.Thr2452=) c.192T>G (p.Thr64=) c.290T>G n.7725T>G c.7629T>G (p.Thr2543=) | ClinVar |
13 | g.32357850G>A | CA387745484 | BRCA2 | c.7726G>A (p.Gly2576Arg) c.7357G>A (p.Gly2453Arg) c.193G>A (p.Gly65Arg) c.291G>A n.7726G>A c.7630G>A (p.Gly2544Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357850G>C | CA387745486 | BRCA2 | c.7726G>C (p.Gly2576Arg) c.7357G>C (p.Gly2453Arg) c.193G>C (p.Gly65Arg) c.291G>C n.7726G>C c.7630G>C (p.Gly2544Arg) | ClinVar dbSNP |
13 | g.32357850G= | CA2082818523 | BRCA2 | c.7726G= (p.Gly2576=) c.7357G= (p.Gly2453=) c.193G= (p.Gly65=) c.291G= n.7726G= c.7630G= (p.Gly2544=) | |
13 | g.32357850G>T | CA387745496 | BRCA2 | c.7726G>T (p.Gly2576Ter) c.7357G>T (p.Gly2453Ter) c.193G>T (p.Gly65Ter) c.291G>T n.7726G>T c.7630G>T (p.Gly2544Ter) | ClinVar dbSNP |
13 | g.32357851G>A | CA387745500 | BRCA2 | c.7727G>A (p.Gly2576Glu) c.7358G>A (p.Gly2453Glu) c.194G>A (p.Gly65Glu) c.292G>A n.7727G>A c.7631G>A (p.Gly2544Glu) | |
13 | g.32357851G>C | CA387745504 | BRCA2 | c.7727G>C (p.Gly2576Ala) c.7358G>C (p.Gly2453Ala) c.194G>C (p.Gly65Ala) c.292G>C n.7727G>C c.7631G>C (p.Gly2544Ala) | ClinVar COSMIC COSMIC |
13 | g.32357851G>T | CA387745506 | BRCA2 | c.7727G>T (p.Gly2576Val) c.7358G>T (p.Gly2453Val) c.194G>T (p.Gly65Val) c.292G>T n.7727G>T c.7631G>T (p.Gly2544Val) | |
13 | g.32357851_32357852delinsGA | CA2082818534 | BRCA2 | c.7727_7728delinsGA (p.Gly2576=) c.7358_7359delinsGA (p.Gly2453=) c.194_195delinsGA (p.Gly65=) c.292_293delinsGA n.7727_7728delinsGA c.7631_7632delinsGA (p.Gly2544=) | |
13 | g.32357852_32357856del | CA2499222304 | BRCA2 | c.7728_7732del (p.Lys2577AsnfsTer5) c.7359_7363del (p.Lys2454AsnfsTer5) c.195_199del (p.Lys66AsnfsTer5) c.293_297del n.7728_7732del c.7632_7636del (p.Lys2545AsnfsTer5) | ClinVar dbSNP |
13 | g.32357852A>C | CA483439213 | BRCA2 | c.7728A>C (p.Gly2576=) c.7359A>C (p.Gly2453=) c.195A>C (p.Gly65=) c.293A>C n.7728A>C c.7632A>C (p.Gly2544=) | |
13 | g.32357852A>G | CA483439214 | BRCA2 | c.7728A>G (p.Gly2576=) c.7359A>G (p.Gly2453=) c.195A>G (p.Gly65=) c.293A>G n.7728A>G c.7632A>G (p.Gly2544=) | ClinVar dbSNP |
13 | g.32357852A>T | CA483439215 | BRCA2 | c.7728A>T (p.Gly2576=) c.7359A>T (p.Gly2453=) c.195A>T (p.Gly65=) c.293A>T n.7728A>T c.7632A>T (p.Gly2544=) | dbSNP |
13 | g.32357855del | CA1139663203 | BRCA2 | c.7731del (p.Gly2578GlufsTer?) c.7362del (p.Gly2455GlufsTer?) c.198del (p.Gly67GlufsTer?) c.296del n.7731del c.7635del (p.Gly2546GlufsTer?) | ClinVar dbSNP |
13 | g.32357853A>C | CA387745509 | BRCA2 | c.7729A>C (p.Lys2577Gln) c.7360A>C (p.Lys2454Gln) c.196A>C (p.Lys66Gln) c.294A>C n.7729A>C c.7633A>C (p.Lys2545Gln) | |
13 | g.32357853A>G | CA387745515 | BRCA2 | c.7729A>G (p.Lys2577Glu) c.7360A>G (p.Lys2454Glu) c.196A>G (p.Lys66Glu) c.294A>G n.7729A>G c.7633A>G (p.Lys2545Glu) | |
13 | g.32357853A>T | CA387745513 | BRCA2 | c.7729A>T (p.Lys2577Ter) c.7360A>T (p.Lys2454Ter) c.196A>T (p.Lys66Ter) c.294A>T n.7729A>T c.7633A>T (p.Lys2545Ter) | ClinVar dbSNP |
13 | g.32357853_32357856del | CA2580087354 | BRCA2 | c.7729_7732del (p.Lys2577GlufsTer?) c.7360_7363del (p.Lys2454GlufsTer?) c.196_199del (p.Lys66GlufsTer?) c.294_297del n.7729_7732del c.7633_7636del (p.Lys2545GlufsTer?) | ClinVar |
13 | g.32357854A= | CA2082818552 | BRCA2 | c.7730A= (p.Lys2577=) c.7361A= (p.Lys2454=) c.197A= (p.Lys66=) c.295A= n.7730A= c.7634A= (p.Lys2545=) | |
13 | g.32357854A>C | CA387745520 | BRCA2 | c.7730A>C (p.Lys2577Thr) c.7361A>C (p.Lys2454Thr) c.197A>C (p.Lys66Thr) c.295A>C n.7730A>C c.7634A>C (p.Lys2545Thr) | |
13 | g.32357854A>G | CA387745536 | BRCA2 | c.7730A>G (p.Lys2577Arg) c.7361A>G (p.Lys2454Arg) c.197A>G (p.Lys66Arg) c.295A>G n.7730A>G c.7634A>G (p.Lys2545Arg) | ClinVar dbSNP |
13 | g.32357854A>T | CA387745526 | BRCA2 | c.7730A>T (p.Lys2577Ile) c.7361A>T (p.Lys2454Ile) c.197A>T (p.Lys66Ile) c.295A>T n.7730A>T c.7634A>T (p.Lys2545Ile) | |
13 | g.32357855A>C | CA387745541 | BRCA2 | c.7731A>C (p.Lys2577Asn) c.7362A>C (p.Lys2454Asn) c.198A>C (p.Lys66Asn) c.296A>C n.7731A>C c.7635A>C (p.Lys2545Asn) | ClinVar dbSNP |
13 | g.32357855A>G | CA483439216 | BRCA2 | c.7731A>G (p.Lys2577=) c.7362A>G (p.Lys2454=) c.198A>G (p.Lys66=) c.296A>G n.7731A>G c.7635A>G (p.Lys2545=) | ClinVar dbSNP |
13 | g.32357855A>T | CA387745543 | BRCA2 | c.7731A>T (p.Lys2577Asn) c.7362A>T (p.Lys2454Asn) c.198A>T (p.Lys66Asn) c.296A>T n.7731A>T c.7635A>T (p.Lys2545Asn) | ClinVar dbSNP |
13 | g.32357856G>A | CA387745549 | BRCA2 | c.7732G>A (p.Gly2578Arg) c.7363G>A (p.Gly2455Arg) c.199G>A (p.Gly67Arg) c.297G>A n.7732G>A c.7636G>A (p.Gly2546Arg) | dbSNP |
13 | g.32357856G>C | CA387745552 | BRCA2 | c.7732G>C (p.Gly2578Arg) c.7363G>C (p.Gly2455Arg) c.199G>C (p.Gly67Arg) c.297G>C n.7732G>C c.7636G>C (p.Gly2546Arg) | dbSNP |
13 | g.32357856G= | CA2082818561 | BRCA2 | c.7732G= (p.Gly2578=) c.7363G= (p.Gly2455=) c.199G= (p.Gly67=) c.297G= n.7732G= c.7636G= (p.Gly2546=) | |
13 | g.32357856G>T | CA387745555 | BRCA2 | c.7732G>T (p.Gly2578Ter) c.7363G>T (p.Gly2455Ter) c.199G>T (p.Gly67Ter) c.297G>T n.7732G>T c.7636G>T (p.Gly2546Ter) | ClinVar dbSNP |
13 | g.32357858_32357868del | CA2580087355 | BRCA2 | c.7734_7744del (p.Ile2579Ter) c.7365_7375del (p.Ile2456Ter) c.201_211del (p.Ile68Ter) c.299_309del n.7734_7744del c.7638_7648del (p.Ile2547Ter) | ClinVar |
13 | g.32357857G>A | CA025249 | BRCA2 | c.7733G>A (p.Gly2578Glu) c.7364G>A (p.Gly2455Glu) c.200G>A (p.Gly67Glu) c.298G>A n.7733G>A c.7637G>A (p.Gly2546Glu) | ClinVar dbSNP |
13 | g.32357857G>C | CA387745571 | BRCA2 | c.7733G>C (p.Gly2578Ala) c.7364G>C (p.Gly2455Ala) c.200G>C (p.Gly67Ala) c.298G>C n.7733G>C c.7637G>C (p.Gly2546Ala) | |
13 | g.32357857G= | CA2082818577 | BRCA2 | c.7733G= (p.Gly2578=) c.7364G= (p.Gly2455=) c.200G= (p.Gly67=) c.298G= n.7733G= c.7637G= (p.Gly2546=) | |
13 | g.32357857G>T | CA387745575 | BRCA2 | c.7733G>T (p.Gly2578Val) c.7364G>T (p.Gly2455Val) c.200G>T (p.Gly67Val) c.298G>T n.7733G>T c.7637G>T (p.Gly2546Val) | ClinVar dbSNP |
13 | g.32357857_32357863delinsGAATACA | CA2082818572 | BRCA2 | c.7733_7739delinsGAATACA (p.Gly2578=) c.7364_7370delinsGAATACA (p.Gly2455=) c.200_206delinsGAATACA (p.Gly67=) c.298_304delinsGAATACA n.7733_7739delinsGAATACA c.7637_7643delinsGAATACA (p.Gly2546=) | |
13 | g.32357858A>C | CA483439220 | BRCA2 | c.7734A>C (p.Gly2578=) c.7365A>C (p.Gly2455=) c.201A>C (p.Gly67=) c.299A>C n.7734A>C c.7638A>C (p.Gly2546=) | |
13 | g.32357858A>G | CA483439219 | BRCA2 | c.7734A>G (p.Gly2578=) c.7365A>G (p.Gly2455=) c.201A>G (p.Gly67=) c.299A>G n.7734A>G c.7638A>G (p.Gly2546=) | ClinVar |
13 | g.32357858A>T | CA483439218 | BRCA2 | c.7734A>T (p.Gly2578=) c.7365A>T (p.Gly2455=) c.201A>T (p.Gly67=) c.299A>T n.7734A>T c.7638A>T (p.Gly2546=) | |
13 | g.32357858_32357863delinsCTGATGGTG | CA658823755 | BRCA2 | c.7734_7739delinsCTGATGGTG (p.Gly2579Ter) c.7365_7370delinsCTGATGGTG (p.Gly2456Ter) c.201_206delinsCTGATGGTG (p.Gly68Ter) c.299_304delinsCTGATGGTG n.7734_7739delinsCTGATGGTG c.7638_7643delinsCTGATGGTG (p.Gly2547Ter) | ClinVar dbSNP |
13 | g.32357859A>C | CA387745577 | BRCA2 | c.7735A>C (p.Ile2579Leu) c.7366A>C (p.Ile2456Leu) c.202A>C (p.Ile68Leu) c.300A>C n.7735A>C c.7639A>C (p.Ile2547Leu) | |
13 | g.32357859A>G | CA387745580 | BRCA2 | c.7735A>G (p.Ile2579Val) c.7366A>G (p.Ile2456Val) c.202A>G (p.Ile68Val) c.300A>G n.7735A>G c.7639A>G (p.Ile2547Val) | ClinVar dbSNP |
13 | g.32357859A>T | CA387745592 | BRCA2 | c.7735A>T (p.Ile2579Leu) c.7366A>T (p.Ile2456Leu) c.202A>T (p.Ile68Leu) c.300A>T n.7735A>T c.7639A>T (p.Ile2547Leu) | |
13 | g.32357860T>A | CA387745595 | BRCA2 | c.7736T>A (p.Ile2579Lys) c.7367T>A (p.Ile2456Lys) c.203T>A (p.Ile68Lys) c.301T>A n.7736T>A c.7640T>A (p.Ile2547Lys) | dbSNP |
13 | g.32357860T>C | CA387745598 | BRCA2 | c.7736T>C (p.Ile2579Thr) c.7367T>C (p.Ile2456Thr) c.203T>C (p.Ile68Thr) c.301T>C n.7736T>C c.7640T>C (p.Ile2547Thr) | ClinVar dbSNP |
13 | g.32357860T>G | CA387745602 | BRCA2 | c.7736T>G (p.Ile2579Arg) c.7367T>G (p.Ile2456Arg) c.203T>G (p.Ile68Arg) c.301T>G n.7736T>G c.7640T>G (p.Ile2547Arg) | dbSNP |
13 | g.32357860T= | CA2082818590 | BRCA2 | c.7736T= (p.Ile2579=) c.7367T= (p.Ile2456=) c.203T= (p.Ile68=) c.301T= n.7736T= c.7640T= (p.Ile2547=) | |
13 | g.32357861A>C | CA483439221 | BRCA2 | c.7737A>C (p.Ile2579=) c.7368A>C (p.Ile2456=) c.204A>C (p.Ile68=) c.302A>C n.7737A>C c.7641A>C (p.Ile2547=) | dbSNP |
13 | g.32357861A>G | CA387745607 | BRCA2 | c.7737A>G (p.Ile2579Met) c.7368A>G (p.Ile2456Met) c.204A>G (p.Ile68Met) c.302A>G n.7737A>G c.7641A>G (p.Ile2547Met) | |
13 | g.32357861A>T | CA483439223 | BRCA2 | c.7737A>T (p.Ile2579=) c.7368A>T (p.Ile2456=) c.204A>T (p.Ile68=) c.302A>T n.7737A>T c.7641A>T (p.Ile2547=) | dbSNP |
13 | g.32357862C>A | CA387745610 | BRCA2 | c.7738C>A (p.Gln2580Lys) c.7369C>A (p.Gln2457Lys) c.205C>A (p.Gln69Lys) c.303C>A n.7738C>A c.7642C>A (p.Gln2548Lys) | ClinVar COSMIC COSMIC |
13 | g.32357862C= | CA2082818595 | BRCA2 | c.7738C= (p.Gln2580=) c.7369C= (p.Gln2457=) c.205C= (p.Gln69=) c.303C= n.7738C= c.7642C= (p.Gln2548=) | |
13 | g.32357862C>G | CA387745614 | BRCA2 | c.7738C>G (p.Gln2580Glu) c.7369C>G (p.Gln2457Glu) c.205C>G (p.Gln69Glu) c.303C>G n.7738C>G c.7642C>G (p.Gln2548Glu) | |
13 | g.32357862C>T | CA025250 | BRCA2 | c.7738C>T (p.Gln2580Ter) c.7369C>T (p.Gln2457Ter) c.205C>T (p.Gln69Ter) c.303C>T n.7738C>T c.7642C>T (p.Gln2548Ter) | ClinVar dbSNP |
13 | g.32357863A= | CA2082818609 | BRCA2 | c.7739A= (p.Gln2580=) c.7370A= (p.Gln2457=) c.206A= (p.Gln69=) c.304A= n.7739A= c.7643A= (p.Gln2548=) | |
13 | g.32357863A>C | CA387745617 | BRCA2 | c.7739A>C (p.Gln2580Pro) c.7370A>C (p.Gln2457Pro) c.206A>C (p.Gln69Pro) c.304A>C n.7739A>C c.7643A>C (p.Gln2548Pro) | |
13 | g.32357863A>G | CA16619768 | BRCA2 | c.7739A>G (p.Gln2580Arg) c.7370A>G (p.Gln2457Arg) c.206A>G (p.Gln69Arg) c.304A>G n.7739A>G c.7643A>G (p.Gln2548Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357863A>T | CA387745619 | BRCA2 | c.7739A>T (p.Gln2580Leu) c.7370A>T (p.Gln2457Leu) c.206A>T (p.Gln69Leu) c.304A>T n.7739A>T c.7643A>T (p.Gln2548Leu) | dbSNP |
13 | g.32357863dup | CA915946876 | BRCA2 | c.7739dup (p.Leu2581ValfsTer3) c.7370dup (p.Leu2458ValfsTer3) c.206dup (p.Leu70ValfsTer3) c.304dup n.7739dup c.7643dup (p.Leu2549ValfsTer3) | ClinVar dbSNP |
13 | g.32357864G>A | CA483439226 | BRCA2 | c.7740G>A (p.Gln2580=) c.7371G>A (p.Gln2457=) c.207G>A (p.Gln69=) c.305G>A n.7740G>A c.7644G>A (p.Gln2548=) | ClinVar dbSNP |
13 | g.32357864G>C | CA387745621 | BRCA2 | c.7740G>C (p.Gln2580His) c.7371G>C (p.Gln2457His) c.207G>C (p.Gln69His) c.305G>C n.7740G>C c.7644G>C (p.Gln2548His) | dbSNP |
13 | g.32357864G= | CA2082818622 | BRCA2 | c.7740G= (p.Gln2580=) c.7371G= (p.Gln2457=) c.207G= (p.Gln69=) c.305G= n.7740G= c.7644G= (p.Gln2548=) | |
13 | g.32357864G>T | CA387745623 | BRCA2 | c.7740G>T (p.Gln2580His) c.7371G>T (p.Gln2457His) c.207G>T (p.Gln69His) c.305G>T n.7740G>T c.7644G>T (p.Gln2548His) | ClinVar dbSNP |
13 | g.32357865T>A | CA387745626 | BRCA2 | c.7741T>A (p.Leu2581Met) c.7372T>A (p.Leu2458Met) c.208T>A (p.Leu70Met) c.306T>A n.7741T>A c.7645T>A (p.Leu2549Met) | dbSNP |
13 | g.32357865T>C | CA483439227 | BRCA2 | c.7741T>C (p.Leu2581=) c.7372T>C (p.Leu2458=) c.208T>C (p.Leu70=) c.306T>C n.7741T>C c.7645T>C (p.Leu2549=) | gnomAD v4 |
13 | g.32357865T>G | CA387745636 | BRCA2 | c.7741T>G (p.Leu2581Val) c.7372T>G (p.Leu2458Val) c.208T>G (p.Leu70Val) c.306T>G n.7741T>G c.7645T>G (p.Leu2549Val) | ClinVar |
13 | g.32357865_32357872delinsTTGGCTGA | CA2082818626 | BRCA2 | c.7741_7748delinsTTGGCTGA (p.Leu2581=) c.7372_7379delinsTTGGCTGA (p.Leu2458=) c.208_215delinsTTGGCTGA (p.Leu70=) c.306_313delinsTTGGCTGA n.7741_7748delinsTTGGCTGA c.7645_7652delinsTTGGCTGA (p.Leu2549=) | |
13 | g.32357866T>A | CA387745641 | BRCA2 | c.7742T>A (p.Leu2581Ter) c.7373T>A (p.Leu2458Ter) c.209T>A (p.Leu70Ter) c.307T>A n.7742T>A c.7646T>A (p.Leu2549Ter) | |
13 | g.32357866T>C | CA387745650 | BRCA2 | c.7742T>C (p.Leu2581Ser) c.7373T>C (p.Leu2458Ser) c.209T>C (p.Leu70Ser) c.307T>C n.7742T>C c.7646T>C (p.Leu2549Ser) | dbSNP |
13 | g.32357866T>G | CA025251 | BRCA2 | c.7742T>G (p.Leu2581Trp) c.7373T>G (p.Leu2458Trp) c.209T>G (p.Leu70Trp) c.307T>G n.7742T>G c.7646T>G (p.Leu2549Trp) | ClinVar dbSNP |
13 | g.32357866T= | CA2082818635 | BRCA2 | c.7742T= (p.Leu2581=) c.7373T= (p.Leu2458=) c.209T= (p.Leu70=) c.307T= n.7742T= c.7646T= (p.Leu2549=) | |
13 | g.32357866_32357867delinsTG | CA2082818658 | BRCA2 | c.7742_7743delinsTG (p.Leu2581=) c.7373_7374delinsTG (p.Leu2458=) c.209_210delinsTG (p.Leu70=) c.307_308delinsTG n.7742_7743delinsTG c.7646_7647delinsTG (p.Leu2549=) | |
13 | g.32357869_32357875dup | CA2499222305 | BRCA2 | c.7745_7751dup (p.Gly2585Ter) c.7376_7382dup (p.Gly2462Ter) c.212_218dup (p.Gly74Ter) c.310_316dup n.7745_7751dup c.7649_7655dup (p.Gly2553Ter) | ClinVar dbSNP |
13 | g.32357869_32357875del | CA915946877 | BRCA2 | c.7745_7751del (p.Ala2582ValfsTer?) c.7376_7382del (p.Ala2459ValfsTer?) c.212_218del (p.Ala71ValfsTer?) c.7745_7751del (p.Ala2582ValfsTer25) c.310_316del n.7745_7751del c.7649_7655del (p.Ala2550ValfsTer?) | ClinVar dbSNP |
13 | g.32357867G>A | CA483439230 | BRCA2 | c.7743G>A (p.Leu2581=) c.7374G>A (p.Leu2458=) c.210G>A (p.Leu70=) c.308G>A n.7743G>A c.7647G>A (p.Leu2549=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357867G>C | CA387745658 | BRCA2 | c.7743G>C (p.Leu2581Phe) c.7374G>C (p.Leu2458Phe) c.210G>C (p.Leu70Phe) c.308G>C n.7743G>C c.7647G>C (p.Leu2549Phe) | |
13 | g.32357867G= | CA2082818669 | BRCA2 | c.7743G= (p.Leu2581=) c.7374G= (p.Leu2458=) c.210G= (p.Leu70=) c.308G= n.7743G= c.7647G= (p.Leu2549=) | |
13 | g.32357867G>T | CA387745660 | BRCA2 | c.7743G>T (p.Leu2581Phe) c.7374G>T (p.Leu2458Phe) c.210G>T (p.Leu70Phe) c.308G>T n.7743G>T c.7647G>T (p.Leu2549Phe) | dbSNP |
13 | g.32357868del | CA10589448 | BRCA2 | c.7744del (p.Ala2582LeufsTer?) c.7375del (p.Ala2459LeufsTer?) c.211del (p.Ala71LeufsTer?) c.7744del (p.Ala2582LeufsTer27) c.309del n.7744del c.7648del (p.Ala2550LeufsTer?) | ClinVar dbSNP |
13 | g.32357868G>A | CA10579751 | BRCA2 | c.7744G>A (p.Ala2582Thr) c.7375G>A (p.Ala2459Thr) c.211G>A (p.Ala71Thr) c.309G>A n.7744G>A c.7648G>A (p.Ala2550Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32357868G>C | CA387745661 | BRCA2 | c.7744G>C (p.Ala2582Pro) c.7375G>C (p.Ala2459Pro) c.211G>C (p.Ala71Pro) c.309G>C n.7744G>C c.7648G>C (p.Ala2550Pro) | dbSNP gnomAD v4 |
13 | g.32357868G= | CA2082818677 | BRCA2 | c.7744G= (p.Ala2582=) c.7375G= (p.Ala2459=) c.211G= (p.Ala71=) c.309G= n.7744G= c.7648G= (p.Ala2550=) | |
13 | g.32357868G>T | CA387745664 | BRCA2 | c.7744G>T (p.Ala2582Ser) c.7375G>T (p.Ala2459Ser) c.211G>T (p.Ala71Ser) c.309G>T n.7744G>T c.7648G>T (p.Ala2550Ser) | dbSNP |
13 | g.32357869del | CA2697551788 | BRCA2 | c.7745del (p.Ala2582ValfsTer?) c.7376del (p.Ala2459ValfsTer?) c.212del (p.Ala71ValfsTer?) c.7745del (p.Ala2582ValfsTer27) c.310del n.7745del c.7649del (p.Ala2550ValfsTer?) | ClinVar |
13 | g.32357869C>A | CA387745676 | BRCA2 | c.7745C>A (p.Ala2582Asp) c.7376C>A (p.Ala2459Asp) c.212C>A (p.Ala71Asp) c.310C>A n.7745C>A c.7649C>A (p.Ala2550Asp) | dbSNP |
13 | g.32357869C>G | CA387745679 | BRCA2 | c.7745C>G (p.Ala2582Gly) c.7376C>G (p.Ala2459Gly) c.212C>G (p.Ala71Gly) c.310C>G n.7745C>G c.7649C>G (p.Ala2550Gly) | dbSNP |
13 | g.32357869C>T | CA387745686 | BRCA2 | c.7745C>T (p.Ala2582Val) c.7376C>T (p.Ala2459Val) c.212C>T (p.Ala71Val) c.310C>T n.7745C>T c.7649C>T (p.Ala2550Val) | dbSNP |
13 | g.32357870T>A | CA483439233 | BRCA2 | c.7746T>A (p.Ala2582=) c.7377T>A (p.Ala2459=) c.213T>A (p.Ala71=) c.311T>A n.7746T>A c.7650T>A (p.Ala2550=) | |
13 | g.32357870T>C | CA483439234 | BRCA2 | c.7746T>C (p.Ala2582=) c.7377T>C (p.Ala2459=) c.213T>C (p.Ala71=) c.311T>C n.7746T>C c.7650T>C (p.Ala2550=) | COSMIC COSMIC |
13 | g.32357870T>G | CA483439235 | BRCA2 | c.7746T>G (p.Ala2582=) c.7377T>G (p.Ala2459=) c.213T>G (p.Ala71=) c.311T>G n.7746T>G c.7650T>G (p.Ala2550=) | |
13 | g.32357871G>A | CA387745690 | BRCA2 | c.7747G>A (p.Asp2583Asn) c.7378G>A (p.Asp2460Asn) c.214G>A (p.Asp72Asn) c.312G>A n.7747G>A c.7651G>A (p.Asp2551Asn) | dbSNP gnomAD v4 |
13 | g.32357871G>C | CA387745693 | BRCA2 | c.7747G>C (p.Asp2583His) c.7378G>C (p.Asp2460His) c.214G>C (p.Asp72His) c.312G>C n.7747G>C c.7651G>C (p.Asp2551His) | ClinVar dbSNP |
13 | g.32357871G= | CA2082818681 | BRCA2 | c.7747G= (p.Asp2583=) c.7378G= (p.Asp2460=) c.214G= (p.Asp72=) c.312G= n.7747G= c.7651G= (p.Asp2551=) | |
13 | g.32357871G>T | CA387745698 | BRCA2 | c.7747G>T (p.Asp2583Tyr) c.7378G>T (p.Asp2460Tyr) c.214G>T (p.Asp72Tyr) c.312G>T n.7747G>T c.7651G>T (p.Asp2551Tyr) | |
13 | g.32357876_32357882del | CA2727929030 | BRCA2 | c.7752_7758del (p.Gly2585SerfsTer?) c.7383_7389del (p.Gly2462SerfsTer?) c.219_225del (p.Gly74SerfsTer?) c.7752_7758del (p.Gly2585SerfsTer22) c.317_323del n.7752_7758del c.7656_7662del (p.Gly2553SerfsTer?) | dbSNP |
13 | g.32357872A= | CA2082818686 | BRCA2 | c.7748A= (p.Asp2583=) c.7379A= (p.Asp2460=) c.215A= (p.Asp72=) c.313A= n.7748A= c.7652A= (p.Asp2551=) | |
13 | g.32357872A>C | CA387745712 | BRCA2 | c.7748A>C (p.Asp2583Ala) c.7379A>C (p.Asp2460Ala) c.215A>C (p.Asp72Ala) c.313A>C n.7748A>C c.7652A>C (p.Asp2551Ala) | |
13 | g.32357872A>G | CA387745715 | BRCA2 | c.7748A>G (p.Asp2583Gly) c.7379A>G (p.Asp2460Gly) c.215A>G (p.Asp72Gly) c.313A>G n.7748A>G c.7652A>G (p.Asp2551Gly) | dbSNP |
13 | g.32357872A>T | CA387745727 | BRCA2 | c.7748A>T (p.Asp2583Val) c.7379A>T (p.Asp2460Val) c.215A>T (p.Asp72Val) c.313A>T n.7748A>T c.7652A>T (p.Asp2551Val) | ClinVar dbSNP |
13 | g.32357873T>A | CA387745743 | BRCA2 | c.7749T>A (p.Asp2583Glu) c.7380T>A (p.Asp2460Glu) c.216T>A (p.Asp72Glu) c.314T>A n.7749T>A c.7653T>A (p.Asp2551Glu) | |
13 | g.32357873T>C | CA025254 | BRCA2 | c.7749T>C (p.Asp2583=) c.7380T>C (p.Asp2460=) c.216T>C (p.Asp72=) c.314T>C n.7749T>C c.7653T>C (p.Asp2551=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357873T>G | CA387745739 | BRCA2 | c.7749T>G (p.Asp2583Glu) c.7380T>G (p.Asp2460Glu) c.216T>G (p.Asp72Glu) c.314T>G n.7749T>G c.7653T>G (p.Asp2551Glu) | |
13 | g.32357873T= | CA2082818697 | BRCA2 | c.7749T= (p.Asp2583=) c.7380T= (p.Asp2460=) c.216T= (p.Asp72=) c.314T= n.7749T= c.7653T= (p.Asp2551=) | |
13 | g.32357873_32357874delinsTG | CA2082818694 | BRCA2 | c.7749_7750delinsTG (p.Asp2583=) c.7380_7381delinsTG (p.Asp2460=) c.216_217delinsTG (p.Asp72=) c.314_315delinsTG n.7749_7750delinsTG c.7653_7654delinsTG (p.Asp2551=) | |
13 | g.32357874G>A | CA387745746 | BRCA2 | c.7750G>A (p.Gly2584Ser) c.7381G>A (p.Gly2461Ser) c.217G>A (p.Gly73Ser) c.315G>A n.7750G>A c.7654G>A (p.Gly2552Ser) | dbSNP |
13 | g.32357874G>C | CA387745748 | BRCA2 | c.7750G>C (p.Gly2584Arg) c.7381G>C (p.Gly2461Arg) c.217G>C (p.Gly73Arg) c.315G>C n.7750G>C c.7654G>C (p.Gly2552Arg) | |
13 | g.32357874G= | CA2082818708 | BRCA2 | c.7750G= (p.Gly2584=) c.7381G= (p.Gly2461=) c.217G= (p.Gly73=) c.315G= n.7750G= c.7654G= (p.Gly2552=) | |
13 | g.32357874G>T | CA387745750 | BRCA2 | c.7750G>T (p.Gly2584Cys) c.7381G>T (p.Gly2461Cys) c.217G>T (p.Gly73Cys) c.315G>T n.7750G>T c.7654G>T (p.Gly2552Cys) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32357875del | CA025255 | BRCA2 | c.7751del (p.Gly2584ValfsTer?) c.7382del (p.Gly2461ValfsTer?) c.218del (p.Gly73ValfsTer?) c.7751del (p.Gly2584ValfsTer25) c.316del n.7751del c.7655del (p.Gly2552ValfsTer?) | ClinVar dbSNP |
13 | g.32357875G>A | CA025256 | BRCA2 | c.7751G>A (p.Gly2584Asp) c.7382G>A (p.Gly2461Asp) c.218G>A (p.Gly73Asp) c.316G>A n.7751G>A c.7655G>A (p.Gly2552Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357875G>C | CA387745756 | BRCA2 | c.7751G>C (p.Gly2584Ala) c.7382G>C (p.Gly2461Ala) c.218G>C (p.Gly73Ala) c.316G>C n.7751G>C c.7655G>C (p.Gly2552Ala) | dbSNP |
13 | g.32357875G= | CA2082818713 | BRCA2 | c.7751G= (p.Gly2584=) c.7382G= (p.Gly2461=) c.218G= (p.Gly73=) c.316G= n.7751G= c.7655G= (p.Gly2552=) | |
13 | g.32357875G>T | CA387745757 | BRCA2 | c.7751G>T (p.Gly2584Val) c.7382G>T (p.Gly2461Val) c.218G>T (p.Gly73Val) c.316G>T n.7751G>T c.7655G>T (p.Gly2552Val) | |
13 | g.32357876T>A | CA483439241 | BRCA2 | c.7752T>A (p.Gly2584=) c.7383T>A (p.Gly2461=) c.219T>A (p.Gly73=) c.317T>A n.7752T>A c.7656T>A (p.Gly2552=) | |
13 | g.32357876T>C | CA483439243 | BRCA2 | c.7752T>C (p.Gly2584=) c.7383T>C (p.Gly2461=) c.219T>C (p.Gly73=) c.317T>C n.7752T>C c.7656T>C (p.Gly2552=) | |
13 | g.32357876T>G | CA483439245 | BRCA2 | c.7752T>G (p.Gly2584=) c.7383T>G (p.Gly2461=) c.219T>G (p.Gly73=) c.317T>G n.7752T>G c.7656T>G (p.Gly2552=) | ClinVar |
13 | g.32357877G>A | CA025257 | BRCA2 | c.7753G>A (p.Gly2585Arg) c.7384G>A (p.Gly2462Arg) c.220G>A (p.Gly74Arg) c.318G>A n.7753G>A c.7657G>A (p.Gly2553Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32357877G>C | CA387745760 | BRCA2 | c.7753G>C (p.Gly2585Arg) c.7384G>C (p.Gly2462Arg) c.220G>C (p.Gly74Arg) c.318G>C n.7753G>C c.7657G>C (p.Gly2553Arg) | |
13 | g.32357877G= | CA2082818720 | BRCA2 | c.7753G= (p.Gly2585=) c.7384G= (p.Gly2462=) c.220G= (p.Gly74=) c.318G= n.7753G= c.7657G= (p.Gly2553=) | |
13 | g.32357877G>T | CA387745764 | BRCA2 | c.7753G>T (p.Gly2585Ter) c.7384G>T (p.Gly2462Ter) c.220G>T (p.Gly74Ter) c.318G>T n.7753G>T c.7657G>T (p.Gly2553Ter) | |
13 | g.32357878G>A | CA387745772 | BRCA2 | c.7754G>A (p.Gly2585Glu) c.7385G>A (p.Gly2462Glu) c.221G>A (p.Gly74Glu) c.319G>A n.7754G>A c.7658G>A (p.Gly2553Glu) | dbSNP |
13 | g.32357878G>C | CA6941135 | BRCA2 | c.7754G>C (p.Gly2585Ala) c.7385G>C (p.Gly2462Ala) c.221G>C (p.Gly74Ala) c.319G>C n.7754G>C c.7658G>C (p.Gly2553Ala) | dbSNP ExAC gnomAD v2 |
13 | g.32357878G= | CA2082818723 | BRCA2 | c.7754G= (p.Gly2585=) c.7385G= (p.Gly2462=) c.221G= (p.Gly74=) c.319G= n.7754G= c.7658G= (p.Gly2553=) | |
13 | g.32357878G>T | CA387745768 | BRCA2 | c.7754G>T (p.Gly2585Val) c.7385G>T (p.Gly2462Val) c.221G>T (p.Gly74Val) c.319G>T n.7754G>T c.7658G>T (p.Gly2553Val) | dbSNP |
13 | g.32357879A= | CA2082818728 | BRCA2 | c.7755A= (p.Gly2585=) c.7386A= (p.Gly2462=) c.222A= (p.Gly74=) c.320A= n.7755A= c.7659A= (p.Gly2553=) | |
13 | g.32357879A>C | CA483439248 | BRCA2 | c.7755A>C (p.Gly2585=) c.7386A>C (p.Gly2462=) c.222A>C (p.Gly74=) c.320A>C n.7755A>C c.7659A>C (p.Gly2553=) | ClinVar |
13 | g.32357879A>G | CA483439247 | BRCA2 | c.7755A>G (p.Gly2585=) c.7386A>G (p.Gly2462=) c.222A>G (p.Gly74=) c.320A>G n.7755A>G c.7659A>G (p.Gly2553=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357879A>T | CA6941136 | BRCA2 | c.7755A>T (p.Gly2585=) c.7386A>T (p.Gly2462=) c.222A>T (p.Gly74=) c.320A>T n.7755A>T c.7659A>T (p.Gly2553=) | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32357880T>A | CA387745801 | BRCA2 | c.7756T>A (p.Trp2586Arg) c.7387T>A (p.Trp2463Arg) c.223T>A (p.Trp75Arg) c.321T>A n.7756T>A c.7660T>A (p.Trp2554Arg) | |
13 | g.32357880T>C | CA387745788 | BRCA2 | c.7756T>C (p.Trp2586Arg) c.7387T>C (p.Trp2463Arg) c.223T>C (p.Trp75Arg) c.321T>C n.7756T>C c.7660T>C (p.Trp2554Arg) | ClinVar gnomAD v4 |
13 | g.32357880T>G | CA387745791 | BRCA2 | c.7756T>G (p.Trp2586Gly) c.7387T>G (p.Trp2463Gly) c.223T>G (p.Trp75Gly) c.321T>G n.7756T>G c.7660T>G (p.Trp2554Gly) | |
13 | g.32357881G>A | CA025259 | BRCA2 | c.7757G>A (p.Trp2586Ter) c.7388G>A (p.Trp2463Ter) c.224G>A (p.Trp75Ter) c.322G>A n.7757G>A c.7661G>A (p.Trp2554Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357881G>C | CA387745809 | BRCA2 | c.7757G>C (p.Trp2586Ser) c.7388G>C (p.Trp2463Ser) c.224G>C (p.Trp75Ser) c.322G>C n.7757G>C c.7661G>C (p.Trp2554Ser) | ClinVar |
13 | g.32357881G= | CA2082818735 | BRCA2 | c.7757G= (p.Trp2586=) c.7388G= (p.Trp2463=) c.224G= (p.Trp75=) c.322G= n.7757G= c.7661G= (p.Trp2554=) | |
13 | g.32357881G>T | CA387745814 | BRCA2 | c.7757G>T (p.Trp2586Leu) c.7388G>T (p.Trp2463Leu) c.224G>T (p.Trp75Leu) c.322G>T n.7757G>T c.7661G>T (p.Trp2554Leu) | dbSNP |
13 | g.32357882G>A | CA025260 | BRCA2 | c.7758G>A (p.Trp2586Ter) c.7389G>A (p.Trp2463Ter) c.225G>A (p.Trp75Ter) c.323G>A n.7758G>A c.7662G>A (p.Trp2554Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32357882G>C | CA247471160 | BRCA2 | c.7758G>C (p.Trp2586Cys) c.7389G>C (p.Trp2463Cys) c.225G>C (p.Trp75Cys) c.323G>C n.7758G>C c.7662G>C (p.Trp2554Cys) | dbSNP gnomAD v4 |
13 | g.32357882G= | CA2082818751 | BRCA2 | c.7758G= (p.Trp2586=) c.7389G= (p.Trp2463=) c.225G= (p.Trp75=) c.323G= n.7758G= c.7662G= (p.Trp2554=) | |
13 | g.32357882G>T | CA387745820 | BRCA2 | c.7758G>T (p.Trp2586Cys) c.7389G>T (p.Trp2463Cys) c.225G>T (p.Trp75Cys) c.323G>T n.7758G>T c.7662G>T (p.Trp2554Cys) | ClinVar dbSNP |
13 | g.32357882_32357883dup | CA16619769 | BRCA2 | c.7758_7759dup (p.Leu2587ArgfsTer?) c.7389_7390dup (p.Leu2464ArgfsTer?) c.225_226dup (p.Leu76ArgfsTer?) c.7758_7759dup (p.Leu2587ArgfsTer23) c.323_324dup n.7758_7759dup c.7662_7663dup (p.Leu2555ArgfsTer?) | ClinVar dbSNP |
13 | g.32357882_32357885del | CA2695217925 | BRCA2 | c.7758_7761del (p.Trp2586Ter) c.7389_7392del (p.Trp2463Ter) c.225_228del (p.Trp75Ter) c.323_326del n.7758_7761del c.7662_7665del (p.Trp2554Ter) | |
13 | g.32357883C>A | CA387745838 | BRCA2 | c.7759C>A (p.Leu2587Ile) c.7390C>A (p.Leu2464Ile) c.226C>A (p.Leu76Ile) c.324C>A n.7759C>A c.7663C>A (p.Leu2555Ile) | dbSNP |
13 | g.32357883C= | CA2082818761 | BRCA2 | c.7759C= (p.Leu2587=) c.7390C= (p.Leu2464=) c.226C= (p.Leu76=) c.324C= n.7759C= c.7663C= (p.Leu2555=) | |
13 | g.32357883C>G | CA387745841 | BRCA2 | c.7759C>G (p.Leu2587Val) c.7390C>G (p.Leu2464Val) c.226C>G (p.Leu76Val) c.324C>G n.7759C>G c.7663C>G (p.Leu2555Val) | dbSNP gnomAD v4 |
13 | g.32357883C>T | CA025261 | BRCA2 | c.7759C>T (p.Leu2587Phe) c.7390C>T (p.Leu2464Phe) c.226C>T (p.Leu76Phe) c.324C>T n.7759C>T c.7663C>T (p.Leu2555Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357884T>A | CA387745851 | BRCA2 | c.7760T>A (p.Leu2587His) c.7391T>A (p.Leu2464His) c.227T>A (p.Leu76His) c.325T>A n.7760T>A c.7664T>A (p.Leu2555His) | ClinVar dbSNP |
13 | g.32357884T>C | CA387745849 | BRCA2 | c.7760T>C (p.Leu2587Pro) c.7391T>C (p.Leu2464Pro) c.227T>C (p.Leu76Pro) c.325T>C n.7760T>C c.7664T>C (p.Leu2555Pro) | dbSNP |
13 | g.32357884T>G | CA387745848 | BRCA2 | c.7760T>G (p.Leu2587Arg) c.7391T>G (p.Leu2464Arg) c.227T>G (p.Leu76Arg) c.325T>G n.7760T>G c.7664T>G (p.Leu2555Arg) | |
13 | g.32357884T= | CA2082818769 | BRCA2 | c.7760T= (p.Leu2587=) c.7391T= (p.Leu2464=) c.227T= (p.Leu76=) c.325T= n.7760T= c.7664T= (p.Leu2555=) | |
13 | g.32357884_32357885delinsTC | CA2082818768 | BRCA2 | c.7760_7761delinsTC (p.Leu2587=) c.7391_7392delinsTC (p.Leu2464=) c.227_228delinsTC (p.Leu76=) c.325_326delinsTC n.7760_7761delinsTC c.7664_7665delinsTC (p.Leu2555=) | |
13 | g.32357885del | CA025264 | BRCA2 | c.7761del (p.Ile2588TyrfsTer?) c.7392del (p.Ile2465TyrfsTer?) c.228del (p.Ile77TyrfsTer?) c.7761del (p.Ile2588TyrfsTer21) c.326del n.7761del c.7665del (p.Ile2556TyrfsTer?) | ClinVar dbSNP |
13 | g.32357885C>A | CA483439255 | BRCA2 | c.7761C>A (p.Leu2587=) c.7392C>A (p.Leu2464=) c.228C>A (p.Leu76=) c.326C>A n.7761C>A c.7665C>A (p.Leu2555=) | ClinVar dbSNP |
13 | g.32357885C= | CA2082818793 | BRCA2 | c.7761C= (p.Leu2587=) c.7392C= (p.Leu2464=) c.228C= (p.Leu76=) c.326C= n.7761C= c.7665C= (p.Leu2555=) | |
13 | g.32357885C>G | CA483439256 | BRCA2 | c.7761C>G (p.Leu2587=) c.7392C>G (p.Leu2464=) c.228C>G (p.Leu76=) c.326C>G n.7761C>G c.7665C>G (p.Leu2555=) | ClinVar dbSNP |
13 | g.32357885C>T | CA483439257 | BRCA2 | c.7761C>T (p.Leu2587=) c.7392C>T (p.Leu2464=) c.228C>T (p.Leu76=) c.326C>T n.7761C>T c.7665C>T (p.Leu2555=) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32357885_32357886delinsCA | CA2082818795 | BRCA2 | c.7761_7762delinsCA (p.Leu2587=) c.7392_7393delinsCA (p.Leu2464=) c.228_229delinsCA (p.Leu76=) c.326_327delinsCA n.7761_7762delinsCA c.7665_7666delinsCA (p.Leu2555=) | |
13 | g.32357885_32357888delinsCATA | CA2082818783 | BRCA2 | c.7761_7764delinsCATA (p.Leu2587=) c.7392_7395delinsCATA (p.Leu2464=) c.228_231delinsCATA (p.Leu76=) c.326_329delinsCATA n.7761_7764delinsCATA c.7665_7668delinsCATA (p.Leu2555=) | |
13 | g.32357886_32357890dup | CA10589449 | BRCA2 | c.7762_7766dup (p.Ser2590TyrfsTer?) c.7393_7397dup (p.Ser2467TyrfsTer?) c.229_233dup (p.Ser79TyrfsTer?) c.7762_7766dup (p.Ser2590TyrfsTer21) c.327_331dup n.7762_7766dup c.7666_7670dup (p.Ser2558TyrfsTer?) | ClinVar dbSNP |
13 | g.32357886del | CA025265 | BRCA2 | c.7762del (p.Ile2588TyrfsTer?) c.7393del (p.Ile2465TyrfsTer?) c.229del (p.Ile77TyrfsTer?) c.7762del (p.Ile2588TyrfsTer21) c.327del n.7762del c.7666del (p.Ile2556TyrfsTer?) | ClinVar dbSNP gnomAD v4 |
13 | g.32357886A>C | CA387745858 | BRCA2 | c.7762A>C (p.Ile2588Leu) c.7393A>C (p.Ile2465Leu) c.229A>C (p.Ile77Leu) c.327A>C n.7762A>C c.7666A>C (p.Ile2556Leu) | ClinVar |
13 | g.32357886A>G | CA387745862 | BRCA2 | c.7762A>G (p.Ile2588Val) c.7393A>G (p.Ile2465Val) c.229A>G (p.Ile77Val) c.327A>G n.7762A>G c.7666A>G (p.Ile2556Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32357886A>T | CA387745864 | BRCA2 | c.7762A>T (p.Ile2588Leu) c.7393A>T (p.Ile2465Leu) c.229A>T (p.Ile77Leu) c.327A>T n.7762A>T c.7666A>T (p.Ile2556Leu) | |
13 | g.32357886delinsTT | CA2695217926 | BRCA2 | c.7762delinsTT (p.Ile2588PhefsTer5) c.7393delinsTT (p.Ile2465PhefsTer5) c.229delinsTT (p.Ile77PhefsTer5) c.327delinsTT n.7762delinsTT c.7666delinsTT (p.Ile2556PhefsTer5) | |
13 | g.32357886_32357888delinsCC | CA2580087360 | BRCA2 | c.7762_7764delinsCC (p.Ile2588ProfsTer?) c.7393_7395delinsCC (p.Ile2465ProfsTer?) c.229_231delinsCC (p.Ile77ProfsTer?) c.7762_7764delinsCC (p.Ile2588ProfsTer21) c.327_329delinsCC n.7762_7764delinsCC c.7666_7668delinsCC (p.Ile2556ProfsTer?) | ClinVar |
13 | g.32357886_32357888delinsTT | CA090898 | BRCA2 | c.7762_7764delinsTT (p.Ile2588PhefsTer?) c.7393_7395delinsTT (p.Ile2465PhefsTer?) c.229_231delinsTT (p.Ile77PhefsTer?) c.7762_7764delinsTT (p.Ile2588PhefsTer21) c.327_329delinsTT n.7762_7764delinsTT c.7666_7668delinsTT (p.Ile2556PhefsTer?) | ClinVar dbSNP |
13 | g.32357887T>A | CA387745870 | BRCA2 | c.7763T>A (p.Ile2588Lys) c.7394T>A (p.Ile2465Lys) c.230T>A (p.Ile77Lys) c.328T>A n.7763T>A c.7667T>A (p.Ile2556Lys) | dbSNP |
13 | g.32357887T>C | CA387745871 | BRCA2 | c.7763T>C (p.Ile2588Thr) c.7394T>C (p.Ile2465Thr) c.230T>C (p.Ile77Thr) c.328T>C n.7763T>C c.7667T>C (p.Ile2556Thr) | dbSNP |
13 | g.32357887T>G | CA387745873 | BRCA2 | c.7763T>G (p.Ile2588Arg) c.7394T>G (p.Ile2465Arg) c.230T>G (p.Ile77Arg) c.328T>G n.7763T>G c.7667T>G (p.Ile2556Arg) | |
13 | g.32357887T= | CA2082818821 | BRCA2 | c.7763T= (p.Ile2588=) c.7394T= (p.Ile2465=) c.230T= (p.Ile77=) c.328T= n.7763T= c.7667T= (p.Ile2556=) | |
13 | g.32357888del | CA2695217929 | BRCA2 | c.7764del (p.Ser2590ProfsTer?) c.7395del (p.Ser2467ProfsTer?) c.231del (p.Ser79ProfsTer?) c.7764del (p.Ser2590ProfsTer19) c.329del n.7764del c.7668del (p.Ser2558ProfsTer?) | |
13 | g.32357888A= | CA2082818835 | BRCA2 | c.7764A= (p.Ile2588=) c.7395A= (p.Ile2465=) c.231A= (p.Ile77=) c.329A= n.7764A= c.7668A= (p.Ile2556=) | |
13 | g.32357888A>C | CA483439260 | BRCA2 | c.7764A>C (p.Ile2588=) c.7395A>C (p.Ile2465=) c.231A>C (p.Ile77=) c.329A>C n.7764A>C c.7668A>C (p.Ile2556=) | |
13 | g.32357888A>G | CA387745876 | BRCA2 | c.7764A>G (p.Ile2588Met) c.7395A>G (p.Ile2465Met) c.231A>G (p.Ile77Met) c.329A>G n.7764A>G c.7668A>G (p.Ile2556Met) | |
13 | g.32357888A>T | CA025266 | BRCA2 | c.7764A>T (p.Ile2588=) c.7395A>T (p.Ile2465=) c.231A>T (p.Ile77=) c.329A>T n.7764A>T c.7668A>T (p.Ile2556=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357889C>A | CA6941137 | BRCA2 | c.7765C>A (p.Pro2589Thr) c.7396C>A (p.Pro2466Thr) c.232C>A (p.Pro78Thr) c.330C>A n.7765C>A c.7669C>A (p.Pro2557Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357889C= | CA2082818848 | BRCA2 | c.7765C= (p.Pro2589=) c.7396C= (p.Pro2466=) c.232C= (p.Pro78=) c.330C= n.7765C= c.7669C= (p.Pro2557=) | |
13 | g.32357889C>G | CA387745884 | BRCA2 | c.7765C>G (p.Pro2589Ala) c.7396C>G (p.Pro2466Ala) c.232C>G (p.Pro78Ala) c.330C>G n.7765C>G c.7669C>G (p.Pro2557Ala) | dbSNP |
13 | g.32357889C>T | CA387745881 | BRCA2 | c.7765C>T (p.Pro2589Ser) c.7396C>T (p.Pro2466Ser) c.232C>T (p.Pro78Ser) c.330C>T n.7765C>T c.7669C>T (p.Pro2557Ser) | ClinVar dbSNP |
13 | g.32357891del | CA2499222306 | BRCA2 | c.7767del (p.Ser2590ProfsTer?) c.7398del (p.Ser2467ProfsTer?) c.234del (p.Ser79ProfsTer?) c.7767del (p.Ser2590ProfsTer19) c.332del n.7767del c.7671del (p.Ser2558ProfsTer?) | ClinVar dbSNP |
13 | g.32357890C>A | CA025267 | BRCA2 | c.7766C>A (p.Pro2589His) c.7397C>A (p.Pro2466His) c.233C>A (p.Pro78His) c.331C>A n.7766C>A c.7670C>A (p.Pro2557His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357890C= | CA2082818874 | BRCA2 | c.7766C= (p.Pro2589=) c.7397C= (p.Pro2466=) c.233C= (p.Pro78=) c.331C= n.7766C= c.7670C= (p.Pro2557=) | |
13 | g.32357890C>G | CA387745888 | BRCA2 | c.7766C>G (p.Pro2589Arg) c.7397C>G (p.Pro2466Arg) c.233C>G (p.Pro78Arg) c.331C>G n.7766C>G c.7670C>G (p.Pro2557Arg) | dbSNP |
13 | g.32357890C>T | CA10579752 | BRCA2 | c.7766C>T (p.Pro2589Leu) c.7397C>T (p.Pro2466Leu) c.233C>T (p.Pro78Leu) c.331C>T n.7766C>T c.7670C>T (p.Pro2557Leu) | ClinVar dbSNP |
13 | g.32357891C>A | CA483439266 | BRCA2 | c.7767C>A (p.Pro2589=) c.7398C>A (p.Pro2466=) c.234C>A (p.Pro78=) c.332C>A n.7767C>A c.7671C>A (p.Pro2557=) | dbSNP |
13 | g.32357891C= | CA2082818885 | BRCA2 | c.7767C= (p.Pro2589=) c.7398C= (p.Pro2466=) c.234C= (p.Pro78=) c.332C= n.7767C= c.7671C= (p.Pro2557=) | |
13 | g.32357891C>G | CA483439267 | BRCA2 | c.7767C>G (p.Pro2589=) c.7398C>G (p.Pro2466=) c.234C>G (p.Pro78=) c.332C>G n.7767C>G c.7671C>G (p.Pro2557=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357891C>T | CA483439268 | BRCA2 | c.7767C>T (p.Pro2589=) c.7398C>T (p.Pro2466=) c.234C>T (p.Pro78=) c.332C>T n.7767C>T c.7671C>T (p.Pro2557=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357892_32357893dup | CA2499222307 | BRCA2 | c.7768_7769dup (p.Asn2591ProfsTer?) c.7399_7400dup (p.Asn2468ProfsTer?) c.235_236dup (p.Asn80ProfsTer?) c.7768_7769dup (p.Asn2591ProfsTer19) c.333_334dup n.7768_7769dup c.7672_7673dup (p.Asn2559ProfsTer?) | ClinVar dbSNP |
13 | g.32357892T>A | CA025268 | BRCA2 | c.7768T>A (p.Ser2590Thr) c.7399T>A (p.Ser2467Thr) c.235T>A (p.Ser79Thr) c.333T>A n.7768T>A c.7672T>A (p.Ser2558Thr) | ClinVar dbSNP |
13 | g.32357892T>C | CA10579753 | BRCA2 | c.7768T>C (p.Ser2590Pro) c.7399T>C (p.Ser2467Pro) c.235T>C (p.Ser79Pro) c.333T>C n.7768T>C c.7672T>C (p.Ser2558Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32357892T>G | CA387745893 | BRCA2 | c.7768T>G (p.Ser2590Ala) c.7399T>G (p.Ser2467Ala) c.235T>G (p.Ser79Ala) c.333T>G n.7768T>G c.7672T>G (p.Ser2558Ala) | |
13 | g.32357892T= | CA2082818892 | BRCA2 | c.7768T= (p.Ser2590=) c.7399T= (p.Ser2467=) c.235T= (p.Ser79=) c.333T= n.7768T= c.7672T= (p.Ser2558=) | |
13 | g.32357893C>A | CA387745895 | BRCA2 | c.7769C>A (p.Ser2590Tyr) c.7400C>A (p.Ser2467Tyr) c.236C>A (p.Ser79Tyr) c.334C>A n.7769C>A c.7673C>A (p.Ser2558Tyr) | |
13 | g.32357893C= | CA2082818900 | BRCA2 | c.7769C= (p.Ser2590=) c.7400C= (p.Ser2467=) c.236C= (p.Ser79=) c.334C= n.7769C= c.7673C= (p.Ser2558=) | |
13 | g.32357893C>G | CA025269 | BRCA2 | c.7769C>G (p.Ser2590Cys) c.7400C>G (p.Ser2467Cys) c.236C>G (p.Ser79Cys) c.334C>G n.7769C>G c.7673C>G (p.Ser2558Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357893C>T | CA387745900 | BRCA2 | c.7769C>T (p.Ser2590Phe) c.7400C>T (p.Ser2467Phe) c.236C>T (p.Ser79Phe) c.334C>T n.7769C>T c.7673C>T (p.Ser2558Phe) | ClinVar |
13 | g.32357894C>A | CA483439272 | BRCA2 | c.7770C>A (p.Ser2590=) c.7401C>A (p.Ser2467=) c.237C>A (p.Ser79=) c.335C>A n.7770C>A c.7674C>A (p.Ser2558=) | dbSNP |
13 | g.32357894C>G | CA483439274 | BRCA2 | c.7770C>G (p.Ser2590=) c.7401C>G (p.Ser2467=) c.237C>G (p.Ser79=) c.335C>G n.7770C>G c.7674C>G (p.Ser2558=) | dbSNP |
13 | g.32357894C>T | CA483439275 | BRCA2 | c.7770C>T (p.Ser2590=) c.7401C>T (p.Ser2467=) c.237C>T (p.Ser79=) c.335C>T n.7770C>T c.7674C>T (p.Ser2558=) | dbSNP |
13 | g.32357895A= | CA2082818905 | BRCA2 | c.7771A= (p.Asn2591=) c.7402A= (p.Asn2468=) c.238A= (p.Asn80=) c.336A= n.7771A= c.7675A= (p.Asn2559=) | |
13 | g.32357895A>C | CA6941138 | BRCA2 | c.7771A>C (p.Asn2591His) c.7402A>C (p.Asn2468His) c.238A>C (p.Asn80His) c.336A>C n.7771A>C c.7675A>C (p.Asn2559His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357895A>G | CA16619770 | BRCA2 | c.7771A>G (p.Asn2591Asp) c.7402A>G (p.Asn2468Asp) c.238A>G (p.Asn80Asp) c.336A>G n.7771A>G c.7675A>G (p.Asn2559Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357895A>T | CA387745907 | BRCA2 | c.7771A>T (p.Asn2591Tyr) c.7402A>T (p.Asn2468Tyr) c.238A>T (p.Asn80Tyr) c.336A>T n.7771A>T c.7675A>T (p.Asn2559Tyr) | |
13 | g.32357896A= | CA2082818912 | BRCA2 | c.7772A= (p.Asn2591=) c.7403A= (p.Asn2468=) c.239A= (p.Asn80=) c.337A= n.7772A= c.7676A= (p.Asn2559=) | |
13 | g.32357896A>C | CA387745922 | BRCA2 | c.7772A>C (p.Asn2591Thr) c.7403A>C (p.Asn2468Thr) c.239A>C (p.Asn80Thr) c.337A>C n.7772A>C c.7676A>C (p.Asn2559Thr) | |
13 | g.32357896A>G | CA025270 | BRCA2 | c.7772A>G (p.Asn2591Ser) c.7403A>G (p.Asn2468Ser) c.239A>G (p.Asn80Ser) c.337A>G n.7772A>G c.7676A>G (p.Asn2559Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32357896A>T | CA387745916 | BRCA2 | c.7772A>T (p.Asn2591Ile) c.7403A>T (p.Asn2468Ile) c.239A>T (p.Asn80Ile) c.337A>T n.7772A>T c.7676A>T (p.Asn2559Ile) | dbSNP |
13 | g.32357897T>A | CA387745927 | BRCA2 | c.7773T>A (p.Asn2591Lys) c.7404T>A (p.Asn2468Lys) c.240T>A (p.Asn80Lys) c.338T>A n.7773T>A c.7677T>A (p.Asn2559Lys) | dbSNP |
13 | g.32357897T>C | CA483439276 | BRCA2 | c.7773T>C (p.Asn2591=) c.7404T>C (p.Asn2468=) c.240T>C (p.Asn80=) c.338T>C n.7773T>C c.7677T>C (p.Asn2559=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357897T>G | CA387745930 | BRCA2 | c.7773T>G (p.Asn2591Lys) c.7404T>G (p.Asn2468Lys) c.240T>G (p.Asn80Lys) c.338T>G n.7773T>G c.7677T>G (p.Asn2559Lys) | |
13 | g.32357897T= | CA2082818921 | BRCA2 | c.7773T= (p.Asn2591=) c.7404T= (p.Asn2468=) c.240T= (p.Asn80=) c.338T= n.7773T= c.7677T= (p.Asn2559=) | |
13 | g.32357898G>A | CA387745936 | BRCA2 | c.7774G>A (p.Asp2592Asn) c.7405G>A (p.Asp2469Asn) c.241G>A (p.Asp81Asn) c.339G>A n.7774G>A c.7678G>A (p.Asp2560Asn) | ClinVar dbSNP |
13 | g.32357898G>C | CA387745939 | BRCA2 | c.7774G>C (p.Asp2592His) c.7405G>C (p.Asp2469His) c.241G>C (p.Asp81His) c.339G>C n.7774G>C c.7678G>C (p.Asp2560His) | dbSNP |
13 | g.32357898G>T | CA387745942 | BRCA2 | c.7774G>T (p.Asp2592Tyr) c.7405G>T (p.Asp2469Tyr) c.241G>T (p.Asp81Tyr) c.339G>T n.7774G>T c.7678G>T (p.Asp2560Tyr) | dbSNP |
13 | g.32357899A= | CA2082818931 | BRCA2 | c.7775A= (p.Asp2592=) c.7406A= (p.Asp2469=) c.242A= (p.Asp81=) c.340A= n.7775A= c.7679A= (p.Asp2560=) | |
13 | g.32357899A>C | CA387745944 | BRCA2 | c.7775A>C (p.Asp2592Ala) c.7406A>C (p.Asp2469Ala) c.242A>C (p.Asp81Ala) c.340A>C n.7775A>C c.7679A>C (p.Asp2560Ala) | |
13 | g.32357899A>G | CA387745947 | BRCA2 | c.7775A>G (p.Asp2592Gly) c.7406A>G (p.Asp2469Gly) c.242A>G (p.Asp81Gly) c.340A>G n.7775A>G c.7679A>G (p.Asp2560Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32357899A>T | CA387745950 | BRCA2 | c.7775A>T (p.Asp2592Val) c.7406A>T (p.Asp2469Val) c.242A>T (p.Asp81Val) c.340A>T n.7775A>T c.7679A>T (p.Asp2560Val) |