| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94056734A>G | CA16617209 | ABCA4 | c.2249T>C (p.Leu750Pro) c.2161-1419T>C (n.2161-1419T>C) c.-65+6440T>C (n.-65+6440T>C) | ClinVar dbSNP |
| 1 | g.94056734A= | CA1181426504 | ABCA4 | c.2249T= (p.Leu750=) c.2161-1419T= (n.2161-1419T=) c.-65+6440T= (n.-65+6440T=) | dbSNP |