| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.63721226G>T | CA270070 | EYS,PHF3 | c.*7518G>T (n.*7518G>T) c.8805C>A (p.Tyr2935Ter) c.8868C>A (p.Tyr2956Ter) c.363+9864G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.63721226G>A | CA450862338 | EYS,PHF3 | c.*7518G>A (n.*7518G>A) c.8805C>T (p.Tyr2935=) c.8868C>T (p.Tyr2956=) c.363+9864G>A | ClinVar dbSNP |