| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.226984901C>T | CA208527 | COQ8A | c.1532C>T (p.Thr511Met) c.*6259C>T (n.*6259C>T) c.1376C>T (p.Thr459Met) n.2394C>T n.719C>T n.922C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.226984901C= | CA1148116562 | COQ8A | c.1532C= (p.Thr511=) c.*6259C= (n.*6259C=) c.1376C= (p.Thr459=) n.2394C= n.719C= n.922C= | dbSNP |