Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
13 | g.32336621dup | CA10589147 | BRCA2 | c.2266dup (p.Gln756ProfsTer7) c.1897dup (p.Gln633ProfsTer7) n.2266dup | ClinVar dbSNP |
13 | g.32336621del | CA2573149374 | BRCA2 | c.2266del (p.Gln756ArgfsTer16) c.1897del (p.Gln633ArgfsTer16) n.2266del | ClinVar dbSNP |
13 | g.32336621C>A | CA387771048 | BRCA2 | c.2266C>A (p.Gln756Lys) c.1897C>A (p.Gln633Lys) n.2266C>A | dbSNP |
13 | g.32336621C= | CA2082750830 | BRCA2 | c.2266C= (p.Gln756=) c.1897C= (p.Gln633=) n.2266C= | |
13 | g.32336621C>G | CA387771044 | BRCA2 | c.2266C>G (p.Gln756Glu) c.1897C>G (p.Gln633Glu) n.2266C>G | ClinVar dbSNP |
13 | g.32336621C>T | CA16043337 | BRCA2 | c.2266C>T (p.Gln756Ter) c.1897C>T (p.Gln633Ter) n.2266C>T | ClinVar dbSNP |
13 | g.32336622A= | CA2082750843 | BRCA2 | c.2267A= (p.Gln756=) c.1898A= (p.Gln633=) n.2267A= | |
13 | g.32336622A>C | CA387771051 | BRCA2 | c.2267A>C (p.Gln756Pro) c.1898A>C (p.Gln633Pro) n.2267A>C | |
13 | g.32336622A>G | CA387771052 | BRCA2 | c.2267A>G (p.Gln756Arg) c.1898A>G (p.Gln633Arg) n.2267A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336622A>T | CA387771053 | BRCA2 | c.2267A>T (p.Gln756Leu) c.1898A>T (p.Gln633Leu) n.2267A>T | dbSNP |
13 | g.32336623G>A | CA483437013 | BRCA2 | c.2268G>A (p.Gln756=) c.1899G>A (p.Gln633=) n.2268G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32336623G>C | CA387771054 | BRCA2 | c.2268G>C (p.Gln756His) c.1899G>C (p.Gln633His) n.2268G>C | dbSNP |
13 | g.32336623G= | CA2082750858 | BRCA2 | c.2268G= (p.Gln756=) c.1899G= (p.Gln633=) n.2268G= | |
13 | g.32336623G>T | CA387771055 | BRCA2 | c.2268G>T (p.Gln756His) c.1899G>T (p.Gln633His) n.2268G>T | |
13 | g.32336623_32336625delinsGAA | CA2082750855 | BRCA2 | c.2268_2270delinsGAA (p.Gln756=) c.1899_1901delinsGAA (p.Gln633=) n.2268_2270delinsGAA | |
13 | g.32336624A= | CA2082750887 | BRCA2 | c.2269A= (p.Lys757=) c.1900A= (p.Lys634=) n.2269A= | |
13 | g.32336624A>C | CA387771057 | BRCA2 | c.2269A>C (p.Lys757Gln) c.1900A>C (p.Lys634Gln) n.2269A>C | dbSNP |
13 | g.32336624A>G | CA16613937 | BRCA2 | c.2269A>G (p.Lys757Glu) c.1900A>G (p.Lys634Glu) n.2269A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336624A>T | CA10589148 | BRCA2 | c.2269A>T (p.Lys757Ter) c.1900A>T (p.Lys634Ter) n.2269A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336627del | CA658656370 | BRCA2 | c.2272del (p.Ser758ValfsTer14) c.1903del (p.Ser635ValfsTer14) n.2272del | ClinVar dbSNP |
13 | g.32336626_32336627del | CA10589149 | BRCA2 | c.2271_2272del (p.Leu759PhefsTer3) c.1902_1903del (p.Leu636PhefsTer3) n.2271_2272del | ClinVar dbSNP |
13 | g.32336625A= | CA2082750908 | BRCA2 | c.2270A= (p.Lys757=) c.1901A= (p.Lys634=) n.2270A= | |
13 | g.32336625A>C | CA387771064 | BRCA2 | c.2270A>C (p.Lys757Thr) c.1901A>C (p.Lys634Thr) n.2270A>C | |
13 | g.32336625A>G | CA6940590 | BRCA2 | c.2270A>G (p.Lys757Arg) c.1901A>G (p.Lys634Arg) n.2270A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336625A>T | CA387771067 | BRCA2 | c.2270A>T (p.Lys757Ile) c.1901A>T (p.Lys634Ile) n.2270A>T | dbSNP |
13 | g.32336626A>C | CA387771068 | BRCA2 | c.2271A>C (p.Lys757Asn) c.1902A>C (p.Lys634Asn) n.2271A>C | dbSNP |
13 | g.32336626A>G | CA483437019 | BRCA2 | c.2271A>G (p.Lys757=) c.1902A>G (p.Lys634=) n.2271A>G | |
13 | g.32336626A>T | CA387771069 | BRCA2 | c.2271A>T (p.Lys757Asn) c.1902A>T (p.Lys634Asn) n.2271A>T | dbSNP |
13 | g.32336627A>C | CA387771073 | BRCA2 | c.2272A>C (p.Ser758Arg) c.1903A>C (p.Ser635Arg) n.2272A>C | |
13 | g.32336627A>G | CA387771071 | BRCA2 | c.2272A>G (p.Ser758Gly) c.1903A>G (p.Ser635Gly) n.2272A>G | |
13 | g.32336627A>T | CA387771070 | BRCA2 | c.2272A>T (p.Ser758Cys) c.1903A>T (p.Ser635Cys) n.2272A>T | |
13 | g.32336627_32336628delinsAG | CA2082750921 | BRCA2 | c.2272_2273delinsAG (p.Ser758=) c.1903_1904delinsAG (p.Ser635=) n.2272_2273delinsAG | |
13 | g.32336628del | CA16619668 | BRCA2 | c.2273del (p.Ser758IlefsTer14) c.1904del (p.Ser635IlefsTer14) n.2273del | ClinVar dbSNP |
13 | g.32336628G>A | CA387771075 | BRCA2 | c.2273G>A (p.Ser758Asn) c.1904G>A (p.Ser635Asn) n.2273G>A | ClinVar dbSNP |
13 | g.32336628G>C | CA387771077 | BRCA2 | c.2273G>C (p.Ser758Thr) c.1904G>C (p.Ser635Thr) n.2273G>C | dbSNP |
13 | g.32336628G= | CA2082750931 | BRCA2 | c.2273G= (p.Ser758=) c.1904G= (p.Ser635=) n.2273G= | |
13 | g.32336628G>T | CA387771080 | BRCA2 | c.2273G>T (p.Ser758Ile) c.1904G>T (p.Ser635Ile) n.2273G>T | dbSNP |
13 | g.32336629T>A | CA387771085 | BRCA2 | c.2274T>A (p.Ser758Arg) c.1905T>A (p.Ser635Arg) n.2274T>A | dbSNP |
13 | g.32336629T>C | CA014821 | BRCA2 | c.2274T>C (p.Ser758=) c.1905T>C (p.Ser635=) n.2274T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336629T>G | CA014830 | BRCA2 | c.2274T>G (p.Ser758Arg) c.1905T>G (p.Ser635Arg) n.2274T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336629T= | CA2082750944 | BRCA2 | c.2274T= (p.Ser758=) c.1905T= (p.Ser635=) n.2274T= | |
13 | g.32336630del | CA658761160 | BRCA2 | c.2275del (p.Leu759PhefsTer13) c.1906del (p.Leu636PhefsTer13) n.2275del | ClinVar dbSNP |
13 | g.32336630C>A | CA387771100 | BRCA2 | c.2275C>A (p.Leu759Ile) c.1906C>A (p.Leu636Ile) n.2275C>A | dbSNP COSMIC COSMIC |
13 | g.32336630C= | CA2082750960 | BRCA2 | c.2275C= (p.Leu759=) c.1906C= (p.Leu636=) n.2275C= | |
13 | g.32336630C>G | CA387771104 | BRCA2 | c.2275C>G (p.Leu759Val) c.1906C>G (p.Leu636Val) n.2275C>G | |
13 | g.32336630C>T | CA014843 | BRCA2 | c.2275C>T (p.Leu759Phe) c.1906C>T (p.Leu636Phe) n.2275C>T | ClinVar dbSNP |
13 | g.32336630_32336632delinsCTT | CA2082750959 | BRCA2 | c.2275_2277delinsCTT (p.Leu759=) c.1906_1908delinsCTT (p.Leu636=) n.2275_2277delinsCTT | |
13 | g.32336631T>A | CA387771108 | BRCA2 | c.2276T>A (p.Leu759His) c.1907T>A (p.Leu636His) n.2276T>A | dbSNP |