| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44151048A>G | CA126213 | GCK | c.*389T>C (n.*389T>C) c.391T>C (p.Ser131Pro) n.877T>C c.394T>C (p.Ser132Pro) c.388T>C (p.Ser130Pro) c.364-24T>C (n.364-24T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44151048A= | CA1703636476 | GCK | c.*389T= (n.*389T=) c.391T= (p.Ser131=) n.877T= c.394T= (p.Ser132=) c.388T= (p.Ser130=) c.364-24T= (n.364-24T=) | dbSNP |