| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128323135C>T | CA199150 | COQ4 | c.190C>T (p.Pro64Ser) n.536C>T n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128323135C>A | CA375017631 | COQ4 | c.190C>A (p.Pro64Thr) n.536C>A n.540C>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128323135C= | CA1880225309 | COQ4 | c.190C= (p.Pro64=) n.536C= n.540C= | dbSNP |