| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145167G>A | CA257433 | GCK | c.*1365C>T (n.*1365C>T) c.*487C>T (n.*487C>T) n.593C>T c.401C>T (p.Ala134Val) c.1370C>T (p.Ala457Val) c.1367C>T (p.Ala456Val) c.1430C>T (p.Ala477Val) n.379C>T c.419C>T (p.Ala140Val) c.1364C>T (p.Ala455Val) c.1316C>T (p.Ala439Val) n.747C>T c.356C>T (p.Ala119Val) c.227C>T (p.Ala76Val) | ClinVar dbSNP |
| 7 | g.44145167G= | CA1703612648 | GCK | c.*1365C= (n.*1365C=) c.*487C= (n.*487C=) n.593C= c.401C= (p.Ala134=) c.1370C= (p.Ala457=) c.1367C= (p.Ala456=) c.1430C= (p.Ala477=) n.379C= c.419C= (p.Ala140=) c.1364C= (p.Ala455=) c.1316C= (p.Ala439=) n.747C= c.356C= (p.Ala119=) c.227C= (p.Ala76=) | dbSNP |