| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7932691G>T | CA323102 | TIMM44 | c.923C>A (p.Pro308Gln) c.56C>A (p.Pro19Gln) c.910C>A c.*611C>A (n.*611C>A) n.329C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7932691G>A | CA9149645 | TIMM44 | c.923C>T (p.Pro308Leu) c.56C>T (p.Pro19Leu) c.910C>T c.*611C>T (n.*611C>T) n.329C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |