| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75009042G>A | CA390430007 | EIF2B2 | c.910G>A (p.Glu304Lys) n.490G>A | dbSNP |
| 14 | g.75009042G>T | CA263656848 | EIF2B2 | c.910G>T (p.Glu304Ter) n.490G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.75009042G= | CA2147300720 | EIF2B2 | c.910G= (p.Glu304=) n.490G= | dbSNP |