| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75005867G>C | CA263654958 | EIF2B2 | c.599G>C (p.Gly200Ala) c.597G>C (p.Gly199=) c.598-30G>C (n.598-30G>C) | dbSNP |
| 14 | g.75005867G>T | CA346918 | EIF2B2 | c.599G>T (p.Gly200Val) c.597G>T (p.Gly199=) c.598-30G>T (n.598-30G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |