| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94031054C>A | CA957690 | ABCA4 | c.4195G>T (p.Glu1399Ter) c.571G>T (p.Glu191Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031054C>T | CA227162 | ABCA4 | c.4195G>A (p.Glu1399Lys) c.571G>A (p.Glu191Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94031054C>G | CA341286248 | ABCA4 | c.4195G>C (p.Glu1399Gln) c.571G>C (p.Glu191Gln) | dbSNP gnomAD v3 gnomAD v4 |