| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94007707T>C | CA16617200 | ABCA4 | c.5932A>G (p.Lys1978Glu) n.348A>G n.46A>G c.2308A>G (p.Lys770Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94007707T= | CA1181402880 | ABCA4 | c.5932A= (p.Lys1978=) n.348A= n.46A= c.2308A= (p.Lys770=) | dbSNP |