| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94041328G>A | CA16042404 | ABCA4 | c.3403C>T (p.Gln1135Ter) c.-64-1239C>T (n.-64-1239C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041328G= | CA1181420050 | ABCA4 | c.3403C= (p.Gln1135=) c.-64-1239C= (n.-64-1239C=) | dbSNP |