| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63488423G>A | CA10588706 | EEF1A2 | c.1265-40C>T (n.1265-40C>T) c.1267C>T (p.Arg423Cys) c.*1139C>T (n.*1139C>T) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63488423G= | CA2374819757 | EEF1A2 | c.1265-40C= (n.1265-40C=) c.1267C= (p.Arg423=) c.*1139C= (n.*1139C=) | dbSNP |