| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145173G>T | CA16609264 | GCK | c.*1359C>A (n.*1359C>A) c.*481C>A (n.*481C>A) n.587C>A c.395C>A (p.Ala132Glu) c.1364C>A (p.Ala455Glu) c.1361C>A (p.Ala454Glu) c.1424C>A (p.Ala475Glu) n.373C>A c.413C>A (p.Ala138Glu) c.1358C>A (p.Ala453Glu) c.1310C>A (p.Ala437Glu) n.741C>A c.350C>A (p.Ala117Glu) c.221C>A (p.Ala74Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145173G>A | CA367396861 | GCK | c.*1359C>T (n.*1359C>T) c.*481C>T (n.*481C>T) n.587C>T c.395C>T (p.Ala132Val) c.1364C>T (p.Ala455Val) c.1361C>T (p.Ala454Val) c.1424C>T (p.Ala475Val) n.373C>T c.413C>T (p.Ala138Val) c.1358C>T (p.Ala453Val) c.1310C>T (p.Ala437Val) n.741C>T c.350C>T (p.Ala117Val) c.221C>T (p.Ala74Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145173G= | CA1703612655 | GCK | c.*1359C= (n.*1359C=) c.*481C= (n.*481C=) n.587C= c.395C= (p.Ala132=) c.1364C= (p.Ala455=) c.1361C= (p.Ala454=) c.1424C= (p.Ala475=) n.373C= c.413C= (p.Ala138=) c.1358C= (p.Ala453=) c.1310C= (p.Ala437=) n.741C= c.350C= (p.Ala117=) c.221C= (p.Ala74=) | dbSNP |