| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55075501A>G | CA871636 | USP24 | c.7403T>C (p.Val2468Ala) c.5618T>C (p.Val1873Ala) c.7400T>C (p.Val2467Ala) c.7463T>C (p.Val2488Ala) c.7460T>C (p.Val2487Ala) c.6938T>C (p.Val2313Ala) c.6878T>C (p.Val2293Ala) n.7721T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55075501A= | CA1139799564 | USP24 | c.7403T= (p.Val2468=) c.5618T= (p.Val1873=) c.7400T= (p.Val2467=) c.7463T= (p.Val2488=) c.7460T= (p.Val2487=) c.6938T= (p.Val2313=) c.6878T= (p.Val2293=) n.7721T= | dbSNP |