| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128323147G>A | CA375017717 | COQ4 | c.202G>A (p.Asp68Asn) c.202G>A (p.Gly68Ser) c.202G>A (p.Gly68Arg) n.548G>A n.552G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.128323147G>C | CA5260430 | COQ4 | c.202G>C (p.Asp68His) c.202G>C (p.Gly68Arg) n.548G>C n.552G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |