| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94056801T>C | CA16617210 | ABCA4 | c.2182A>G (p.Ser728Gly) c.2161-1486A>G (n.2161-1486A>G) c.-65+6373A>G (n.-65+6373A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94056801T= | CA1181426526 | ABCA4 | c.2182A= (p.Ser728=) c.2161-1486A= (n.2161-1486A=) c.-65+6373A= (n.-65+6373A=) | dbSNP |