| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44150021G>T | CA367401673 | GCK | c.*525C>A (n.*525C>A) c.527C>A (p.Ala176Glu) n.1013C>A c.530C>A (p.Ala177Glu) c.524C>A (p.Ala175Glu) c.476C>A (p.Ala159Glu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44150021G>C | CA213796 | GCK | c.*525C>G (n.*525C>G) c.527C>G (p.Ala176Gly) n.1013C>G c.530C>G (p.Ala177Gly) c.524C>G (p.Ala175Gly) c.476C>G (p.Ala159Gly) | ClinVar dbSNP |