| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147720C>A | CA126214 | GCK | c.*791G>T (n.*791G>T) c.793G>T (p.Glu265Ter) c.796G>T (p.Glu266Ter) c.790G>T (p.Glu264Ter) c.742G>T (p.Glu248Ter) n.54C>A | ClinVar dbSNP |
| 7 | g.44147720C>T | CA367400548 | GCK | c.*791G>A (n.*791G>A) c.793G>A (p.Glu265Lys) c.796G>A (p.Glu266Lys) c.790G>A (p.Glu264Lys) c.742G>A (p.Glu248Lys) n.54C>T | ClinVar dbSNP gnomAD v4 |