| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.226984910A>G | CA116406 | COQ8A | c.1541A>G (p.Tyr514Cys) c.*6268A>G (n.*6268A>G) c.1385A>G (p.Tyr462Cys) n.2403A>G n.728A>G n.931A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.226984910A= | CA1141580234 | COQ8A | c.1541A= (p.Tyr514=) c.*6268A= (n.*6268A=) c.1385A= (p.Tyr462=) n.2403A= n.728A= n.931A= | dbSNP |