Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.44145608A>C | CA213719 | GCK | c.*1140T>G (n.*1140T>G) c.*262T>G (n.*262T>G) n.368T>G c.176T>G (p.Met59Arg) c.1145T>G (p.Met382Arg) c.1142T>G (p.Met381Arg) c.1205T>G (p.Met402Arg) n.154T>G c.194T>G (p.Met65Arg) c.1139T>G (p.Met380Arg) c.1091T>G (p.Met364Arg) n.522T>G c.131T>G (p.Met44Arg) c.2T>G (p.Met1Arg) | ClinVar dbSNP |
7 | g.44145608A>T | CA367398767 | GCK | c.*1140T>A (n.*1140T>A) c.*262T>A (n.*262T>A) n.368T>A c.176T>A (p.Met59Lys) c.1145T>A (p.Met382Lys) c.1142T>A (p.Met381Lys) c.1205T>A (p.Met402Lys) n.154T>A c.194T>A (p.Met65Lys) c.1139T>A (p.Met380Lys) c.1091T>A (p.Met364Lys) n.522T>A c.131T>A (p.Met44Lys) c.2T>A (p.Met1Lys) | ClinVar dbSNP |