| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94040048A>C | CA119137 | ABCA4 | c.3602T>G (p.Leu1201Arg) c.-23T>G (n.-23T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94040048A>T | CA341289817 | ABCA4 | c.3602T>A (p.Leu1201Gln) c.-23T>A (n.-23T>A) | dbSNP |
| 1 | g.94040048A= | CA1140726200 | ABCA4 | c.3602T= (p.Leu1201=) c.-23T= (n.-23T=) | dbSNP |