| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.64886866G>T | CA827102218 | EYS | c.2847-24C>A (n.2847-24C>A) | dbSNP |
| 6 | g.64886866G>C | CA3877244 | EYS | c.2847-24C>G (n.2847-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64886866G>A | CA3877243 | EYS | c.2847-24C>T (n.2847-24C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |