| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44152312A>C | CA213777 | GCK | c.*320T>G (n.*320T>G) c.322T>G (p.Tyr108Asp) n.808T>G c.325T>G (p.Tyr109Asp) c.319T>G (p.Tyr107Asp) | ClinVar dbSNP |
| 7 | g.44152312A>G | CA367402690 | GCK | c.*320T>C (n.*320T>C) c.322T>C (p.Tyr108His) n.808T>C c.325T>C (p.Tyr109His) c.319T>C (p.Tyr107His) | ClinVar dbSNP gnomAD v4 |