| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.88595605T>C | CA152717 | EIF2AK3 | c.44A>G (p.Gln15Arg) c.497A>G (p.Gln166Arg) c.495A>G n.373A>G c.134A>G (p.Gln45Arg) n.706A>G c.-384A>G (n.-384A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.88595605T>A | CA347596873 | EIF2AK3 | c.44A>T (p.Gln15Leu) c.497A>T (p.Gln166Leu) c.495A>T n.373A>T c.134A>T (p.Gln45Leu) n.706A>T c.-384A>T (n.-384A>T) | dbSNP |
| 2 | g.88595605T= | CA1268216814 | EIF2AK3 | c.44A= (p.Gln15=) c.497A= (p.Gln166=) c.495A= n.373A= c.134A= (p.Gln45=) n.706A= c.-384A= (n.-384A=) | dbSNP |