| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94055132A>T | CA10581651 | ABCA4 | c.2566T>A (p.Tyr856Asn) c.2344T>A (p.Tyr782Asn) c.-65+8042T>A (n.-65+8042T>A) | ClinVar dbSNP |
| 1 | g.94055132A>G | CA26843232 | ABCA4 | c.2566T>C (p.Tyr856His) c.2344T>C (p.Tyr782His) c.-65+8042T>C (n.-65+8042T>C) | dbSNP |
| 1 | g.94055132A= | CA1143468873 | ABCA4 | c.2566T= (p.Tyr856=) c.2344T= (p.Tyr782=) c.-65+8042T= (n.-65+8042T=) | dbSNP |