Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32379902C>T | CA10589547 | BRCA2 | c.9106C>T (p.Gln3036Ter) c.*473C>T (n.*473C>T) c.8737C>T (p.Gln2913Ter) c.*668C>T (n.*668C>T) c.9055C>T (p.Gln3019Ter) c.1522C>T (p.Gln508Ter) n.1233C>T c.9114C>T (n.9114C>T) c.1984C>T c.63C>T c.9010C>T (p.Gln3004Ter) | ClinVar dbSNP |
13 | g.32379902C>G | CA025983 | BRCA2 | c.9106C>G (p.Gln3036Glu) c.*473C>G (n.*473C>G) c.8737C>G (p.Gln2913Glu) c.*668C>G (n.*668C>G) c.9055C>G (p.Gln3019Glu) c.1522C>G (p.Gln508Glu) n.1233C>G c.9114C>G (n.9114C>G) c.1984C>G c.63C>G c.9010C>G (p.Gln3004Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379902C>A | CA025982 | BRCA2 | c.9106C>A (p.Gln3036Lys) c.*473C>A (n.*473C>A) c.8737C>A (p.Gln2913Lys) c.*668C>A (n.*668C>A) c.9055C>A (p.Gln3019Lys) c.1522C>A (p.Gln508Lys) n.1233C>A c.9114C>A (n.9114C>A) c.1984C>A c.63C>A c.9010C>A (p.Gln3004Lys) | ClinVar dbSNP |