| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.226982107C>T | CA1425162 | COQ8A | c.811C>T (p.Arg271Cys) c.*5538C>T (n.*5538C>T) c.*5660C>T (n.*5660C>T) c.655C>T (p.Arg219Cys) n.262C>T n.201C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.226982107C>A | CA345052104 | COQ8A | c.811C>A (p.Arg271Ser) c.*5538C>A (n.*5538C>A) c.*5660C>A (n.*5660C>A) c.655C>A (p.Arg219Ser) n.262C>A n.201C>A | dbSNP gnomAD v4 |
| 1 | g.226982107C= | CA1142028791 | COQ8A | c.811C= (p.Arg271=) c.*5538C= (n.*5538C=) c.*5660C= (n.*5660C=) c.655C= (p.Arg219=) n.262C= n.201C= | dbSNP |