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Mutations on the Protein: Q02846 From Positions: 552 To 607

5
3
1
1






Swiss-Prot Polymorphism: VAR_049255
p.ARG602TRP
N/A
N/A
N/A


Swiss-Prot Disease: VAR_009130
p.ILE573VAL
N/A
N/A
Leber congenital amaurosis 1 (LCA1)


Swiss-Prot Disease: VAR_009131
p.PHE565SER
N/A
N/A
Leber congenital amaurosis 1 (LCA1)


dbSNP Polymorphism: rs28743021
p.PRO575LEU
N/A
N/A
N/A


OMIM Disease: 600179.0001
p.PHE565SER
N/A
N/A
LEBER CONGENITAL AMAUROSIS 1






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