| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.31393927T>C | CA258630338 | HEATR5A | c.772+125A>G (n.772+125A>G) c.*868+125A>G (n.*868+125A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393927T>A | CA704960062 | HEATR5A | c.772+125A>T (n.772+125A>T) c.*868+125A>T (n.*868+125A>T) | dbSNP gnomAD v4 |