| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75005906A>G | CA116769 | EIF2B2 | c.638A>G (p.Glu213Gly) c.636A>G (n.636A>G) c.2A>G (p.Glu1Gly) c.607A>G (p.Arg203Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75005906A= | CA2147299463 | EIF2B2 | c.638A= (p.Glu213=) c.636A= (n.636A=) c.2A= (p.Glu1=) c.607A= (p.Arg203=) | dbSNP |