| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27508073T>G | CA346419317 | GCKR | c.1337T>G (p.Leu446Arg) c.439T>G n.534T>G c.1184T>G (p.Leu395Arg) c.767T>G (p.Leu256Arg) | dbSNP |
| 2 | g.27508073T>C | CA119886 | GCKR | c.1337T>C (p.Leu446Pro) c.439T>C n.534T>C c.1184T>C (p.Leu395Pro) c.767T>C (p.Leu256Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27508073T= | CA1240310702 | GCKR | c.1337T= (p.Leu446=) c.439T= n.534T= c.1184T= (p.Leu395=) c.767T= (p.Leu256=) | dbSNP |
| 2 | g.27508073T>A | CA346419316 | GCKR | c.1337T>A (p.Leu446Gln) c.439T>A n.534T>A c.1184T>A (p.Leu395Gln) c.767T>A (p.Leu256Gln) | dbSNP gnomAD v4 |