| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.99724057G>A | CA118046 | COX15,CUTC | c.649C>T (p.Arg217Trp) c.*8C>T (n.*8C>T) n.309+947G>A c.112C>T (p.Arg38Trp) n.644C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.99724057G>T | CA471135755 | COX15,CUTC | c.649C>A (p.Arg217=) c.*8C>A (n.*8C>A) n.309+947G>T c.112C>A (p.Arg38=) n.644C>A | dbSNP gnomAD v4 |