| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44150990A>T | CA231135 | GCK | c.*447T>A (n.*447T>A) c.449T>A (p.Phe150Tyr) n.935T>A c.452T>A (p.Phe151Tyr) c.446T>A (p.Phe149Tyr) c.398T>A (p.Phe133Tyr) | ClinVar dbSNP |
| 7 | g.44150990A>G | CA213784 | GCK | c.*447T>C (n.*447T>C) c.449T>C (p.Phe150Ser) n.935T>C c.452T>C (p.Phe151Ser) c.446T>C (p.Phe149Ser) c.398T>C (p.Phe133Ser) | ClinVar dbSNP gnomAD v4 |