| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.65477214T>C | CA140432471 | EYS | c.862+13380A>G (n.862+13380A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.65477214T>G | CA3134694062 | EYS | c.862+13380A>C (n.862+13380A>C) | dbSNP |
| 6 | g.65477214T>A | CA3134694061 | EYS | c.862+13380A>T (n.862+13380A>T) | dbSNP |
| 6 | g.65477214T= | CA1634248672 | EYS | c.862+13380A= (n.862+13380A=) | dbSNP |