| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94041345C>T | CA341291094 | ABCA4 | c.3386G>A (p.Arg1129His) c.-64-1256G>A (n.-64-1256G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041345C>A | CA227116 | ABCA4 | c.3386G>T (p.Arg1129Leu) c.-64-1256G>T (n.-64-1256G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |