| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.226982719C>T | CA1425208 | COQ8A | c.895C>T (p.Arg299Trp) c.*5622C>T (n.*5622C>T) c.*5744C>T (n.*5744C>T) c.739C>T (p.Arg247Trp) n.874C>T n.285C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.226982719C= | CA1143513805 | COQ8A | c.895C= (p.Arg299=) c.*5622C= (n.*5622C=) c.*5744C= (n.*5744C=) c.739C= (p.Arg247=) n.874C= n.285C= | dbSNP |
| 1 | g.226982719C>G | CA345052325 | COQ8A | c.895C>G (p.Arg299Gly) c.*5622C>G (n.*5622C>G) c.*5744C>G (n.*5744C>G) c.739C>G (p.Arg247Gly) n.874C>G n.285C>G | dbSNP gnomAD v4 |