Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.1806163A>C | CA345185 | FGFR3 | c.1955A>C (p.Lys652Thr) c.*1005A>C (n.*1005A>C) c.1613A>C (p.Lys538Thr) c.1937A>C (p.Lys646Thr) c.1949A>C (p.Lys650Thr) c.1952A>C (p.Lys651Thr) c.1961A>C (p.Lys654Thr) c.1958A>C (p.Lys653Thr) n.2356A>C n.2375A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.1806163A>G | CA355982606 | FGFR3 | c.1955A>G (p.Lys652Arg) c.*1005A>G (n.*1005A>G) c.1613A>G (p.Lys538Arg) c.1937A>G (p.Lys646Arg) c.1949A>G (p.Lys650Arg) c.1952A>G (p.Lys651Arg) c.1961A>G (p.Lys654Arg) c.1958A>G (p.Lys653Arg) n.2356A>G n.2375A>G | dbSNP |
4 | g.1806163A>T | CA126382 | FGFR3 | c.1955A>T (p.Lys652Met) c.*1005A>T (n.*1005A>T) c.1613A>T (p.Lys538Met) c.1937A>T (p.Lys646Met) c.1949A>T (p.Lys650Met) c.1952A>T (p.Lys651Met) c.1961A>T (p.Lys654Met) c.1958A>T (p.Lys653Met) n.2356A>T n.2375A>T | ClinVar dbSNP COSMIC |