| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75006701A>G | CA7275055 | EIF2B2 | c.818A>G (p.Lys273Arg) c.816A>G (n.816A>G) c.182A>G (p.Lys61Arg) c.*166A>G (n.*166A>G) n.398A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75006701A>T | CA390429104 | EIF2B2 | c.818A>T (p.Lys273Ile) c.816A>T (n.816A>T) c.182A>T (p.Lys61Ile) c.*166A>T (n.*166A>T) n.398A>T | ClinVar dbSNP |