| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94060739C>T | CA958377 | ABCA4 | c.1958G>A (p.Arg653His) n.78G>A c.-65+2435G>A (n.-65+2435G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94060739C>A | CA341278906 | ABCA4 | c.1958G>T (p.Arg653Leu) n.78G>T c.-65+2435G>T (n.-65+2435G>T) | ClinVar dbSNP |
| 1 | g.94060739C= | CA1141829073 | ABCA4 | c.1958G= (p.Arg653=) n.78G= c.-65+2435G= (n.-65+2435G=) | dbSNP |