| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94001104T>C | CA341277634 | ABCA4 | c.6284A>G (p.Asp2095Gly) c.2660A>G (p.Asp887Gly) | dbSNP gnomAD v2 |
| 1 | g.94001104T>A | CA16617199 | ABCA4 | c.6284A>T (p.Asp2095Val) c.2660A>T (p.Asp887Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001104T= | CA1181397828 | ABCA4 | c.6284A= (p.Asp2095=) c.2660A= (p.Asp887=) | dbSNP |