| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44153452G>C | CA213804 | GCK | c.*55C>G (n.*55C>G) c.57C>G (p.Ile19Met) n.543C>G c.60C>G (p.Ile20Met) c.54C>G (p.Ile18Met) n.492C>G | ClinVar dbSNP |
| 7 | g.44153452G>A | CA454610680 | GCK | c.*55C>T (n.*55C>T) c.57C>T (p.Ile19=) n.543C>T c.60C>T (p.Ile20=) c.54C>T (p.Ile18=) n.492C>T | dbSNP |
| 7 | g.44153452G>T | CA454610681 | GCK | c.*55C>A (n.*55C>A) c.57C>A (p.Ile19=) n.543C>A c.60C>A (p.Ile20=) c.54C>A (p.Ile18=) n.492C>A | ClinVar dbSNP gnomAD v4 |