| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.63720626A>T | CA251493 | EYS,PHF3 | c.*6918A>T (n.*6918A>T) c.9405T>A (p.Tyr3135Ter) c.9468T>A (p.Tyr3156Ter) c.363+9264A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63720626A>G | CA450861711 | EYS,PHF3 | c.*6918A>G (n.*6918A>G) c.9405T>C (p.Tyr3135=) c.9468T>C (p.Tyr3156=) c.363+9264A>G | ClinVar dbSNP gnomAD v4 |