| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145543G>A | CA367398420 | GCK | c.*1205C>T (n.*1205C>T) c.*327C>T (n.*327C>T) n.433C>T c.241C>T (p.Arg81Cys) c.1210C>T (p.Arg404Cys) c.1207C>T (p.Arg403Cys) c.1270C>T (p.Arg424Cys) n.219C>T c.259C>T (p.Arg87Cys) c.1204C>T (p.Arg402Cys) c.1156C>T (p.Arg386Cys) n.587C>T c.196C>T (p.Arg66Cys) c.67C>T (p.Arg23Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44145543G>C | CA213737 | GCK | c.*1205C>G (n.*1205C>G) c.*327C>G (n.*327C>G) n.433C>G c.241C>G (p.Arg81Gly) c.1210C>G (p.Arg404Gly) c.1207C>G (p.Arg403Gly) c.1270C>G (p.Arg424Gly) n.219C>G c.259C>G (p.Arg87Gly) c.1204C>G (p.Arg402Gly) c.1156C>G (p.Arg386Gly) n.587C>G c.196C>G (p.Arg66Gly) c.67C>G (p.Arg23Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44145543G>T | CA157913370 | GCK | c.*1205C>A (n.*1205C>A) c.*327C>A (n.*327C>A) n.433C>A c.241C>A (p.Arg81Ser) c.1210C>A (p.Arg404Ser) c.1207C>A (p.Arg403Ser) c.1270C>A (p.Arg424Ser) n.219C>A c.259C>A (p.Arg87Ser) c.1204C>A (p.Arg402Ser) c.1156C>A (p.Arg386Ser) n.587C>A c.196C>A (p.Arg66Ser) c.67C>A (p.Arg23Ser) | dbSNP gnomAD v2 gnomAD v4 |