| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145617G>C | CA367398802 | GCK | c.*1131C>G (n.*1131C>G) c.*253C>G (n.*253C>G) n.359C>G c.167C>G (p.Ala56Gly) c.1136C>G (p.Ala379Gly) c.1133C>G (p.Ala378Gly) c.1196C>G (p.Ala399Gly) n.145C>G c.185C>G (p.Ala62Gly) c.1130C>G (p.Ala377Gly) c.1082C>G (p.Ala361Gly) n.513C>G c.122C>G (p.Ala41Gly) c.-8C>G (n.-8C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145617G>A | CA341585 | GCK | c.*1131C>T (n.*1131C>T) c.*253C>T (n.*253C>T) n.359C>T c.167C>T (p.Ala56Val) c.1136C>T (p.Ala379Val) c.1133C>T (p.Ala378Val) c.1196C>T (p.Ala399Val) n.145C>T c.185C>T (p.Ala62Val) c.1130C>T (p.Ala377Val) c.1082C>T (p.Ala361Val) n.513C>T c.122C>T (p.Ala41Val) c.-8C>T (n.-8C>T) | ClinVar dbSNP |