| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145708T>A | CA213707 | GCK | c.*1040A>T (n.*1040A>T) c.*162A>T (n.*162A>T) n.268A>T c.76A>T (p.Ile26Phe) c.1045A>T (p.Ile349Phe) c.1042A>T (p.Ile348Phe) c.1105A>T (p.Ile369Phe) n.54A>T c.94A>T (p.Ile32Phe) c.1039A>T (p.Ile347Phe) c.991A>T (p.Ile331Phe) n.422A>T n.340A>T c.31A>T (p.Ile11Phe) c.-99A>T (n.-99A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44145708T= | CA1703612963 | GCK | c.*1040A= (n.*1040A=) c.*162A= (n.*162A=) n.268A= c.76A= (p.Ile26=) c.1045A= (p.Ile349=) c.1042A= (p.Ile348=) c.1105A= (p.Ile369=) n.54A= c.94A= (p.Ile32=) c.1039A= (p.Ile347=) c.991A= (p.Ile331=) n.422A= n.340A= c.31A= (p.Ile11=) c.-99A= (n.-99A=) | dbSNP |
| 7 | g.44145708T>C | CA367399304 | GCK | c.*1040A>G (n.*1040A>G) c.*162A>G (n.*162A>G) n.268A>G c.76A>G (p.Ile26Val) c.1045A>G (p.Ile349Val) c.1042A>G (p.Ile348Val) c.1105A>G (p.Ile369Val) n.54A>G c.94A>G (p.Ile32Val) c.1039A>G (p.Ile347Val) c.991A>G (p.Ile331Val) n.422A>G n.340A>G c.31A>G (p.Ile11Val) c.-99A>G (n.-99A>G) | dbSNP gnomAD v4 |