| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40016544C>T | CA149752 | EIF2AK4 | c.3802C>T (p.Gln1268Ter) n.923-564C>T n.2719C>T c.3134C>T c.3760-564C>T (n.3760-564C>T) | ClinVar dbSNP |
| 15 | g.40016544C= | CA2171582460 | EIF2AK4 | c.3802C= (p.Gln1268=) n.923-564C= n.2719C= c.3134C= c.3760-564C= (n.3760-564C=) | dbSNP |