| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145171C>T | CA257432 | GCK | c.*1361G>A (n.*1361G>A) c.*483G>A (n.*483G>A) n.589G>A c.397G>A (p.Val133Met) c.1366G>A (p.Val456Met) c.1363G>A (p.Val455Met) c.1426G>A (p.Val476Met) n.375G>A c.415G>A (p.Val139Met) c.1360G>A (p.Val454Met) c.1312G>A (p.Val438Met) n.743G>A c.352G>A (p.Val118Met) c.223G>A (p.Val75Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145171C= | CA1703612652 | GCK | c.*1361G= (n.*1361G=) c.*483G= (n.*483G=) n.589G= c.397G= (p.Val133=) c.1366G= (p.Val456=) c.1363G= (p.Val455=) c.1426G= (p.Val476=) n.375G= c.415G= (p.Val139=) c.1360G= (p.Val454=) c.1312G= (p.Val438=) n.743G= c.352G= (p.Val118=) c.223G= (p.Val75=) | dbSNP |