| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44153334G>C | CA367403309 | GCK | c.*173C>G (n.*173C>G) c.175C>G (p.Pro59Ala) n.661C>G c.178C>G (p.Pro60Ala) c.172C>G (p.Pro58Ala) | ClinVar dbSNP |
| 7 | g.44153334G>A | CA213767 | GCK | c.*173C>T (n.*173C>T) c.175C>T (p.Pro59Ser) n.661C>T c.178C>T (p.Pro60Ser) c.172C>T (p.Pro58Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |