| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44146466T>C | CA16609267 | GCK | c.*1014A>G (n.*1014A>G) c.*136A>G (n.*136A>G) n.242A>G c.1019A>G (p.Glu340Gly) c.1016A>G (p.Glu339Gly) c.1079A>G (p.Glu360Gly) c.1013A>G (p.Glu338Gly) c.965A>G (p.Glu322Gly) n.314A>G c.8+153A>G (n.8+153A>G) | ClinVar dbSNP gnomAD v2 |
| 7 | g.44146466T= | CA1703613455 | GCK | c.*1014A= (n.*1014A=) c.*136A= (n.*136A=) n.242A= c.1019A= (p.Glu340=) c.1016A= (p.Glu339=) c.1079A= (p.Glu360=) c.1013A= (p.Glu338=) c.965A= (p.Glu322=) n.314A= c.8+153A= (n.8+153A=) | dbSNP |