| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.63720822A>G | CA270072 | EYS,PHF3 | c.*7114A>G (n.*7114A>G) c.9209T>C (p.Ile3070Thr) c.9272T>C (p.Ile3091Thr) c.363+9460A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720822A= | CA1633381003 | EYS,PHF3 | c.*7114A= (n.*7114A=) c.9209T= (p.Ile3070=) c.9272T= (p.Ile3091=) c.363+9460A= | dbSNP |