| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147755A>G | CA213842 | GCK | c.*756T>C (n.*756T>C) c.758T>C (p.Val253Ala) c.761T>C (p.Val254Ala) c.755T>C (p.Val252Ala) c.707T>C (p.Val236Ala) n.82+7A>G | ClinVar dbSNP |
| 7 | g.44147755A>C | CA213844 | GCK | c.*756T>G (n.*756T>G) c.758T>G (p.Val253Gly) c.761T>G (p.Val254Gly) c.755T>G (p.Val252Gly) c.707T>G (p.Val236Gly) n.82+7A>C | ClinVar dbSNP |