| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.47839964G>C | CA270029 | CRX | c.897G>C (p.Leu299Phe) c.*619G>C (n.*619G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.47839964G>A | CA508261610 | CRX | c.897G>A (p.Leu299=) c.*619G>A (n.*619G>A) | dbSNP gnomAD v4 |
| 19 | g.47839964G= | CA2339609371 | CRX | c.897G= (p.Leu299=) c.*619G= (n.*619G=) | dbSNP |