| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.226982111G>T | CA116401 | COQ8A | c.815G>T (p.Gly272Val) c.*5542G>T (n.*5542G>T) c.*5664G>T (n.*5664G>T) c.659G>T (p.Gly220Val) n.266G>T n.205G>T | ClinVar dbSNP |
| 1 | g.226982111G>A | CA116402 | COQ8A | c.815G>A (p.Gly272Asp) c.*5542G>A (n.*5542G>A) c.*5664G>A (n.*5664G>A) c.659G>A (p.Gly220Asp) n.266G>A n.205G>A | ClinVar dbSNP gnomAD v4 |