| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.47836381A>G | CA406629839 | CRX | c.239A>G (p.Glu80Gly) c.100+1838A>G (n.100+1838A>G) | ClinVar dbSNP |
| 19 | g.47836381A>C | CA118789 | CRX | c.239A>C (p.Glu80Ala) c.100+1838A>C (n.100+1838A>C) | ClinVar dbSNP |
| 19 | g.47836381A= | CA2339607396 | CRX | c.239A= (p.Glu80=) c.100+1838A= (n.100+1838A=) | dbSNP |