| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94015763A>G | CA227295 | ABCA4 | c.5288T>C (p.Leu1763Pro) c.1664T>C (p.Leu555Pro) | ClinVar dbSNP |
| 1 | g.94015763A= | CA1140725881 | ABCA4 | c.5288T= (p.Leu1763=) c.1664T= (p.Leu555=) | dbSNP |
| 1 | g.94015763A>T | CA341281591 | ABCA4 | c.5288T>A (p.Leu1763His) c.1664T>A (p.Leu555His) | dbSNP |