| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.47839335C>T | CA118792 | CRX | c.268C>T (p.Arg90Trp) c.116C>T (p.Pro39Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.47839335C= | CA2339609016 | CRX | c.268C= (p.Arg90=) c.116C= (p.Pro39=) | dbSNP |
| 19 | g.47839335C>G | CA406630282 | CRX | c.268C>G (p.Arg90Gly) c.116C>G (p.Pro39Arg) | dbSNP gnomAD v4 |