| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94031110G>A | CA129033 | ABCA4 | c.4139C>T (p.Pro1380Leu) c.515C>T (p.Pro172Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031110G= | CA1140726180 | ABCA4 | c.4139C= (p.Pro1380=) c.515C= (p.Pro172=) | dbSNP |
| 1 | g.94031110G>C | CA341286474 | ABCA4 | c.4139C>G (p.Pro1380Arg) c.515C>G (p.Pro172Arg) | dbSNP |