| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63488381C>A | CA16608439 | EEF1A2 | c.1267G>T (p.Val423Phe) c.1309G>T (p.Val437Phe) c.*1181G>T (n.*1181G>T) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63488381C>T | CA409643575 | EEF1A2 | c.1267G>A (p.Val423Ile) c.1309G>A (p.Val437Ile) c.*1181G>A (n.*1181G>A) | ClinVar dbSNP gnomAD v4 |