| 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 |
| 7 | g.44145608A>G | CA367398764 | GCK | c.*1140T>C (n.*1140T>C) c.*262T>C (n.*262T>C) n.368T>C c.176T>C (p.Met59Thr) c.1145T>C (p.Met382Thr) c.1142T>C (p.Met381Thr) c.1205T>C (p.Met402Thr) n.154T>C c.194T>C (p.Met65Thr) c.1139T>C (p.Met380Thr) c.1091T>C (p.Met364Thr) n.522T>C c.131T>C (p.Met44Thr) c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145608A= | CA1703612914 | GCK | c.*1140T= (n.*1140T=) c.*262T= (n.*262T=) n.368T= c.176T= (p.Met59=) c.1145T= (p.Met382=) c.1142T= (p.Met381=) c.1205T= (p.Met402=) n.154T= c.194T= (p.Met65=) c.1139T= (p.Met380=) c.1091T= (p.Met364=) n.522T= c.131T= (p.Met44=) c.2T= (p.Met1=) | dbSNP |