| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44152420C>G | CA367403112 | GCK | c.*212G>C (n.*212G>C) c.214G>C (p.Gly72Arg) n.700G>C c.217G>C (p.Gly73Arg) c.211G>C (p.Gly71Arg) | ClinVar dbSNP |
| 7 | g.44152420C>T | CA213771 | GCK | c.*212G>A (n.*212G>A) c.214G>A (p.Gly72Arg) n.700G>A c.217G>A (p.Gly73Arg) c.211G>A (p.Gly71Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |