| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.65431130C>T | CA12238376 | EYS | c.863-25763G>A (n.863-25763G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.65431130C>G | CA1634219433 | EYS | c.863-25763G>C (n.863-25763G>C) | dbSNP |
| 6 | g.65431130C= | CA1634219434 | EYS | c.863-25763G= (n.863-25763G=) | dbSNP |