| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145636C>G | CA367398924 | GCK | c.*1112G>C (n.*1112G>C) c.*234G>C (n.*234G>C) n.340G>C c.148G>C (p.Glu50Gln) c.1117G>C (p.Glu373Gln) c.1114G>C (p.Glu372Gln) c.1177G>C (p.Glu393Gln) n.126G>C c.166G>C (p.Glu56Gln) c.1111G>C (p.Glu371Gln) c.1063G>C (p.Glu355Gln) n.494G>C c.103G>C (p.Glu35Gln) c.-27G>C (n.-27G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145636C>A | CA213711 | GCK | c.*1112G>T (n.*1112G>T) c.*234G>T (n.*234G>T) n.340G>T c.148G>T (p.Glu50Ter) c.1117G>T (p.Glu373Ter) c.1114G>T (p.Glu372Ter) c.1177G>T (p.Glu393Ter) n.126G>T c.166G>T (p.Glu56Ter) c.1111G>T (p.Glu371Ter) c.1063G>T (p.Glu355Ter) n.494G>T c.103G>T (p.Glu35Ter) c.-27G>T (n.-27G>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145636C= | CA1703612933 | GCK | c.*1112G= (n.*1112G=) c.*234G= (n.*234G=) n.340G= c.148G= (p.Glu50=) c.1117G= (p.Glu373=) c.1114G= (p.Glu372=) c.1177G= (p.Glu393=) n.126G= c.166G= (p.Glu56=) c.1111G= (p.Glu371=) c.1063G= (p.Glu355=) n.494G= c.103G= (p.Glu35=) c.-27G= (n.-27G=) | dbSNP |