| 1 | g.94055133C>T | CA227013 | ABCA4 | c.2565G>A (p.Trp855Ter)
c.2343G>A (p.Trp781Ter)
c.-65+8041G>A (n.-65+8041G>A)
| ClinVar dbSNP |
| 1 | g.94055133C>A | CA341276817 | ABCA4 | c.2565G>T (p.Trp855Cys)
c.2343G>T (p.Trp781Cys)
c.-65+8041G>T (n.-65+8041G>T)
| dbSNP gnomAD v2 gnomAD v4 |
