| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44150004C>T | CA152954 | GCK | c.*542G>A (n.*542G>A) c.544G>A (p.Val182Met) n.1030G>A c.547G>A (p.Val183Met) c.541G>A (p.Val181Met) c.493G>A (p.Val165Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44150004C= | CA1703635975 | GCK | c.*542G= (n.*542G=) c.544G= (p.Val182=) n.1030G= c.547G= (p.Val183=) c.541G= (p.Val181=) c.493G= (p.Val165=) | dbSNP |