| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.226984892T>C | CA16044183 | COQ8A | c.1523T>C (p.Phe508Ser) c.*6250T>C (n.*6250T>C) c.1367T>C (p.Phe456Ser) n.2385T>C n.710T>C n.913T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.226984892T= | CA1225124519 | COQ8A | c.1523T= (p.Phe508=) c.*6250T= (n.*6250T=) c.1367T= (p.Phe456=) n.2385T= n.710T= n.913T= | dbSNP |