| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94047046C>A | CA26840893 | ABCA4 | c.2791G>T (p.Val931Leu) c.2569G>T (p.Val857Leu) c.-64-6957G>T (n.-64-6957G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047046C>T | CA227031 | ABCA4 | c.2791G>A (p.Val931Met) c.2569G>A (p.Val857Met) c.-64-6957G>A (n.-64-6957G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047046C>G | CA341275532 | ABCA4 | c.2791G>C (p.Val931Leu) c.2569G>C (p.Val857Leu) c.-64-6957G>C (n.-64-6957G>C) | dbSNP gnomAD v4 |
| 1 | g.94047046C= | CA1140670445 | ABCA4 | c.2791G= (p.Val931=) c.2569G= (p.Val857=) c.-64-6957G= (n.-64-6957G=) | dbSNP |