| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147765G>A | CA16609268 | GCK | c.*746C>T (n.*746C>T) c.748C>T (p.Arg250Cys) c.751C>T (p.Arg251Cys) c.745C>T (p.Arg249Cys) c.697C>T (p.Arg233Cys) n.82+17G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147765G= | CA1703634931 | GCK | c.*746C= (n.*746C=) c.748C= (p.Arg250=) c.751C= (p.Arg251=) c.745C= (p.Arg249=) c.697C= (p.Arg233=) n.82+17G= | dbSNP |