| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145266A>G | CA367397256 | GCK | c.*1266T>C (n.*1266T>C) c.*388T>C (n.*388T>C) n.494T>C c.302T>C (p.Phe101Ser) c.1271T>C (p.Phe424Ser) c.1268T>C (p.Phe423Ser) c.1331T>C (p.Phe444Ser) n.280T>C c.320T>C (p.Phe107Ser) c.1265T>C (p.Phe422Ser) c.1217T>C (p.Phe406Ser) n.648T>C c.257T>C (p.Phe86Ser) c.128T>C (p.Phe43Ser) | ClinVar dbSNP |
| 7 | g.44145266A>T | CA213740 | GCK | c.*1266T>A (n.*1266T>A) c.*388T>A (n.*388T>A) n.494T>A c.302T>A (p.Phe101Tyr) c.1271T>A (p.Phe424Tyr) c.1268T>A (p.Phe423Tyr) c.1331T>A (p.Phe444Tyr) n.280T>A c.320T>A (p.Phe107Tyr) c.1265T>A (p.Phe422Tyr) c.1217T>A (p.Phe406Tyr) n.648T>A c.257T>A (p.Phe86Tyr) c.128T>A (p.Phe43Tyr) | ClinVar dbSNP |