| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.44941553T>C | CA824035 | EIF2B3 | c.407A>G (p.Gln136Arg) n.520A>G n.577A>G c.*87A>G (n.*87A>G) c.20A>G (p.Gln7Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.44941553T>G | CA824034 | EIF2B3 | c.407A>C (p.Gln136Pro) n.520A>C n.577A>C c.*87A>C (n.*87A>C) c.20A>C (p.Gln7Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |