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Mutations on the Protein: Q00604 From Positions: 120 To 126

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3



Swiss-Prot Disease: VAR_005501
p.ARG121GLN
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


Swiss-Prot Disease: VAR_005500
p.ARG121GLY
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


Swiss-Prot Disease: VAR_064024
p.ARG121LEU
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


Swiss-Prot Disease: VAR_005502
p.ARG121TRP
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


Swiss-Prot Disease: VAR_064025
p.CYS126SER
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_005504
p.ILE123ASN
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_005505
p.LEU124PHE
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


Swiss-Prot Disease: VAR_005499
p.TYR120CYS
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


OMIM Disease: 300658.0017
p.ARG121LEU
N/A
N/A
EXUDATIVE VITREORETINOPATHY 2, X-LINKED


OMIM Disease: 300658.0010
p.ARG121TRP
N/A
N/A
EXUDATIVE VITREORETINOPATHY 2, X-LINKED


OMIM Disease: 300658.0006
p.LEU124PHE
N/A
N/A
EXUDATIVE VITREORETINOPATHY 2, X-LINKED






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