| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40008067C>T | CA150738 | EIF2AK4 | c.3448C>T (p.Arg1150Ter) n.611C>T n.2365C>T n.409C>T c.2780C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40008067C>G | CA391695662 | EIF2AK4 | c.3448C>G (p.Arg1150Gly) n.611C>G n.2365C>G n.409C>G c.2780C>G | dbSNP |
| 15 | g.40008067C= | CA2171578975 | EIF2AK4 | c.3448C= (p.Arg1150=) n.611C= n.2365C= n.409C= c.2780C= | dbSNP |