| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145626G>A | CA213713 | GCK | c.*1122C>T (n.*1122C>T) c.*244C>T (n.*244C>T) n.350C>T c.158C>T (p.Ser53Phe) c.1127C>T (p.Ser376Phe) c.1124C>T (p.Ser375Phe) c.1187C>T (p.Ser396Phe) n.136C>T c.176C>T (p.Ser59Phe) c.1121C>T (p.Ser374Phe) c.1073C>T (p.Ser358Phe) n.504C>T c.113C>T (p.Ser38Phe) c.-17C>T (n.-17C>T) | ClinVar dbSNP |
| 7 | g.44145626G= | CA1703612927 | GCK | c.*1122C= (n.*1122C=) c.*244C= (n.*244C=) n.350C= c.158C= (p.Ser53=) c.1127C= (p.Ser376=) c.1124C= (p.Ser375=) c.1187C= (p.Ser396=) n.136C= c.176C= (p.Ser59=) c.1121C= (p.Ser374=) c.1073C= (p.Ser358=) n.504C= c.113C= (p.Ser38=) c.-17C= (n.-17C=) | dbSNP |
| 7 | g.44145626G>C | CA367398844 | GCK | c.*1122C>G (n.*1122C>G) c.*244C>G (n.*244C>G) n.350C>G c.158C>G (p.Ser53Cys) c.1127C>G (p.Ser376Cys) c.1124C>G (p.Ser375Cys) c.1187C>G (p.Ser396Cys) n.136C>G c.176C>G (p.Ser59Cys) c.1121C>G (p.Ser374Cys) c.1073C>G (p.Ser358Cys) n.504C>G c.113C>G (p.Ser38Cys) c.-17C>G (n.-17C>G) | dbSNP |
| 7 | g.44145626G>T | CA367398843 | GCK | c.*1122C>A (n.*1122C>A) c.*244C>A (n.*244C>A) n.350C>A c.158C>A (p.Ser53Tyr) c.1127C>A (p.Ser376Tyr) c.1124C>A (p.Ser375Tyr) c.1187C>A (p.Ser396Tyr) n.136C>A c.176C>A (p.Ser59Tyr) c.1121C>A (p.Ser374Tyr) c.1073C>A (p.Ser358Tyr) n.504C>A c.113C>A (p.Ser38Tyr) c.-17C>A (n.-17C>A) | ClinVar dbSNP gnomAD v4 |