1 | g.94060733A>C | CA347415 | ABCA4 | c.1964T>G (p.Phe655Cys) n.84T>G c.-65+2441T>G (n.-65+2441T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94060733A>G | CA341278882 | ABCA4 | c.1964T>C (p.Phe655Ser) n.84T>C c.-65+2441T>C (n.-65+2441T>C)
| dbSNP gnomAD v4 |