| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.65412466T>G | CA139850202 | EYS | c.863-7099A>C (n.863-7099A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.65412466T>C | CA139850204 | EYS | c.863-7099A>G (n.863-7099A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.65412466T= | CA1634211892 | EYS | c.863-7099A= (n.863-7099A=) | dbSNP |