| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.39988037C>T | CA7474049 | EIF2AK4 | c.2458C>T (p.Arg820Ter) c.1790C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.39988037C>G | CA7474048 | EIF2AK4 | c.2458C>G (p.Arg820Gly) c.1790C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.39988037C= | CA2171570565 | EIF2AK4 | c.2458C= (p.Arg820=) c.1790C= | dbSNP |