| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94007727A>C | CA119134 | ABCA4 | c.5912T>G (p.Leu1971Arg) n.328T>G n.26T>G c.2288T>G (p.Leu763Arg) | ClinVar dbSNP |
| 1 | g.94007727A>G | CA341279703 | ABCA4 | c.5912T>C (p.Leu1971Pro) n.328T>C n.26T>C c.2288T>C (p.Leu763Pro) | dbSNP gnomAD v4 |
| 1 | g.94007727A= | CA1140726061 | ABCA4 | c.5912T= (p.Leu1971=) n.328T= n.26T= c.2288T= (p.Leu763=) | dbSNP |