| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.46999130C>T | CA315276386 | EYA2 | c.110-2298C>T (n.110-2298C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46999130C>A | CA1017981018 | EYA2 | c.110-2298C>A (n.110-2298C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46999130C= | CA2366920953 | EYA2 | c.110-2298C= (n.110-2298C=) | dbSNP |