| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94041342A>G | CA16617206 | ABCA4 | c.3389T>C (p.Ile1130Thr) c.-64-1253T>C (n.-64-1253T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94041342A= | CA1181420055 | ABCA4 | c.3389T= (p.Ile1130=) c.-64-1253T= (n.-64-1253T=) | dbSNP |