| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147830G>A | CA260620 | GCK | c.*681C>T (n.*681C>T) c.683C>T (p.Thr228Met) c.686C>T (p.Thr229Met) c.680C>T (p.Thr227Met) c.632C>T (p.Thr211Met) n.82+82G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147830G= | CA1703634959 | GCK | c.*681C= (n.*681C=) c.683C= (p.Thr228=) c.686C= (p.Thr229=) c.680C= (p.Thr227=) c.632C= (p.Thr211=) n.82+82G= | dbSNP |
| 7 | g.44147830G>T | CA367400788 | GCK | c.*681C>A (n.*681C>A) c.683C>A (p.Thr228Lys) c.686C>A (p.Thr229Lys) c.680C>A (p.Thr227Lys) c.632C>A (p.Thr211Lys) n.82+82G>T | ClinVar dbSNP |
| 7 | g.44147830G>C | CA367400787 | GCK | c.*681C>G (n.*681C>G) c.683C>G (p.Thr228Arg) c.686C>G (p.Thr229Arg) c.680C>G (p.Thr227Arg) c.632C>G (p.Thr211Arg) n.82+82G>C | ClinVar dbSNP gnomAD v4 |