| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147726A>G | CA152961 | GCK | c.*785T>C (n.*785T>C) c.787T>C (p.Ser263Pro) c.790T>C (p.Ser264Pro) c.784T>C (p.Ser262Pro) c.736T>C (p.Ser246Pro) n.60A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147726A= | CA1703634906 | GCK | c.*785T= (n.*785T=) c.787T= (p.Ser263=) c.790T= (p.Ser264=) c.784T= (p.Ser262=) c.736T= (p.Ser246=) n.60A= | dbSNP |
| 7 | g.44147726A>T | CA367400558 | GCK | c.*785T>A (n.*785T>A) c.787T>A (p.Ser263Thr) c.790T>A (p.Ser264Thr) c.784T>A (p.Ser262Thr) c.736T>A (p.Ser246Thr) n.60A>T | dbSNP |