| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75009118G>T | CA263656912 | EIF2B2 | c.986G>T (p.Gly329Val) n.566G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75009118G>C | CA390430749 | EIF2B2 | c.986G>C (p.Gly329Ala) n.566G>C | dbSNP gnomAD v4 |
| 14 | g.75009118G= | CA2147300758 | EIF2B2 | c.986G= (p.Gly329=) n.566G= | dbSNP |