| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.44881722C>T | CA340256 | EIF2B3 | c.674G>A (p.Arg225Gln) c.136G>A c.584G>A (p.Arg195Gln) c.287G>A (p.Arg96Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.44881722C>G | CA340120347 | EIF2B3 | c.674G>C (p.Arg225Pro) c.136G>C c.584G>C (p.Arg195Pro) c.287G>C (p.Arg96Pro) | ClinVar dbSNP |