| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147732C>T | CA126211 | GCK | c.*779G>A (n.*779G>A) c.781G>A (p.Gly261Arg) c.784G>A (p.Gly262Arg) c.778G>A (p.Gly260Arg) c.730G>A (p.Gly244Arg) n.66C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147732C>G | CA367400571 | GCK | c.*779G>C (n.*779G>C) c.781G>C (p.Gly261Arg) c.784G>C (p.Gly262Arg) c.778G>C (p.Gly260Arg) c.730G>C (p.Gly244Arg) n.66C>G | ClinVar dbSNP |
| 7 | g.44147732C= | CA1703634909 | GCK | c.*779G= (n.*779G=) c.781G= (p.Gly261=) c.784G= (p.Gly262=) c.778G= (p.Gly260=) c.730G= (p.Gly244=) n.66C= | dbSNP |