| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94103107C>A | CA16617212 | ABCA4 | c.478G>T (p.Glu160Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.94103107C= | CA1181443961 | ABCA4 | c.478G= (p.Glu160=) | dbSNP |
| 1 | g.94103107C>T | CA341291192 | ABCA4 | c.478G>A (p.Glu160Lys) | dbSNP gnomAD v4 |