| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128325810G>C | CA5260522 | COQ4 | c.331G>C (p.Asp111His) c.234G>C (p.Ser78=) n.677G>C n.584G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128325810G>T | CA5260521 | COQ4 | c.331G>T (p.Asp111Tyr) c.234G>T (p.Ser78=) n.677G>T n.584G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128325810G>A | CA5260520 | COQ4 | c.331G>A (p.Asp111Asn) c.234G>A (p.Ser78=) n.677G>A n.584G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |