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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Pathogenicity Predictor
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Collapase
Clinical Significance
Pathogenic
(RDDC)
Gene
ATXN3
Mutation type
Deleted amino acid
Splicing Alteration
Related Disease
Machado-Joseph Disease
Parkinson Disease, Late-Onset
Machado-Joseph Disease Type 1
Machado-Joseph Disease Type 3
Machado-Joseph Disease Type 2
Autosomal Dominant Cerebellar Ataxia
Parkinsonism
Hereditary Late-Onset Parkinson Disease
Dementia
Narcolepsy
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