| 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 |