| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145614G>C | CA367398793 | GCK | c.*1134C>G (n.*1134C>G) c.*256C>G (n.*256C>G) n.362C>G c.170C>G (p.Ala57Gly) c.1139C>G (p.Ala380Gly) c.1136C>G (p.Ala379Gly) c.1199C>G (p.Ala400Gly) n.148C>G c.188C>G (p.Ala63Gly) c.1133C>G (p.Ala378Gly) c.1085C>G (p.Ala362Gly) n.516C>G c.125C>G (p.Ala42Gly) c.-5C>G (n.-5C>G) | ClinVar dbSNP |
| 7 | g.44145614G>A | CA367398790 | GCK | c.*1134C>T (n.*1134C>T) c.*256C>T (n.*256C>T) n.362C>T c.170C>T (p.Ala57Val) c.1139C>T (p.Ala380Val) c.1136C>T (p.Ala379Val) c.1199C>T (p.Ala400Val) n.148C>T c.188C>T (p.Ala63Val) c.1133C>T (p.Ala378Val) c.1085C>T (p.Ala362Val) n.516C>T c.125C>T (p.Ala42Val) c.-5C>T (n.-5C>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145614G>T | CA213717 | GCK | c.*1134C>A (n.*1134C>A) c.*256C>A (n.*256C>A) n.362C>A c.170C>A (p.Ala57Glu) c.1139C>A (p.Ala380Glu) c.1136C>A (p.Ala379Glu) c.1199C>A (p.Ala400Glu) n.148C>A c.188C>A (p.Ala63Glu) c.1133C>A (p.Ala378Glu) c.1085C>A (p.Ala362Glu) n.516C>A c.125C>A (p.Ala42Glu) c.-5C>A (n.-5C>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145614G= | CA1703612919 | GCK | c.*1134C= (n.*1134C=) c.*256C= (n.*256C=) n.362C= c.170C= (p.Ala57=) c.1139C= (p.Ala380=) c.1136C= (p.Ala379=) c.1199C= (p.Ala400=) n.148C= c.188C= (p.Ala63=) c.1133C= (p.Ala378=) c.1085C= (p.Ala362=) n.516C= c.125C= (p.Ala42=) c.-5C= (n.-5C=) | dbSNP |