| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40003201C>G | CA391694475 | EIF2AK4 | c.3244C>G (p.Gln1082Glu) n.407C>G n.2161C>G n.205C>G c.2576C>G | dbSNP gnomAD v4 |
| 15 | g.40003201C>T | CA391694477 | EIF2AK4 | c.3244C>T (p.Gln1082Ter) n.407C>T n.2161C>T n.205C>T c.2576C>T | ClinVar dbSNP |
| 15 | g.40003201C= | CA2171577015 | EIF2AK4 | c.3244C= (p.Gln1082=) n.407C= n.2161C= n.205C= c.2576C= | dbSNP |