| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.39967713C>T | CA149758 | EIF2AK4 | c.1387C>T (p.Arg463Ter) c.803C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.39967713C>G | CA391679751 | EIF2AK4 | c.1387C>G (p.Arg463Gly) c.803C>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.39967713C= | CA2171561795 | EIF2AK4 | c.1387C= (p.Arg463=) c.803C= | dbSNP |