| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.41152004A>G | CA147264 | EP300 | c.*909A>G (n.*909A>G) c.2779A>G c.2989A>G (p.Ile997Val) c.2911A>G (p.Ile971Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41152004A= | CA1139781851 | EP300 | c.*909A= (n.*909A=) c.2779A= c.2989A= (p.Ile997=) c.2911A= (p.Ile971=) | dbSNP |