| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.101346595G>C | CA341082 | TIMM8A | c.198C>G (p.Cys66Trp) c.*1792C>G (n.*1792C>G) c.*392C>G (n.*392C>G) n.715C>G | ClinVar dbSNP |
| X | g.101346595G>A | CA517527469 | TIMM8A | c.198C>T (p.Cys66=) c.*1792C>T (n.*1792C>T) c.*392C>T (n.*392C>T) n.715C>T | dbSNP gnomAD v4 COSMIC |
| X | g.101346595G= | CA2448280837 | TIMM8A | c.198C= (p.Cys66=) c.*1792C= (n.*1792C=) c.*392C= (n.*392C=) n.715C= | dbSNP |