| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44146611T>C | CA16618467 | GCK | c.*869A>G (n.*869A>G) c.861A>G (p.Arg287=) n.97A>G c.874A>G (p.Lys292Glu) c.871A>G (p.Lys291Glu) c.934A>G (p.Lys312Glu) c.868A>G (p.Lys290Glu) c.820A>G (p.Lys274Glu) n.169A>G c.8+8A>G (n.8+8A>G) | ClinVar dbSNP |
| 7 | g.44146611T>A | CA213860 | GCK | c.*869A>T (n.*869A>T) c.861A>T (p.Arg287Ser) n.97A>T c.874A>T (p.Lys292Ter) c.871A>T (p.Lys291Ter) c.934A>T (p.Lys312Ter) c.868A>T (p.Lys290Ter) c.820A>T (p.Lys274Ter) n.169A>T c.8+8A>T (n.8+8A>T) | ClinVar dbSNP |