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ALS1
TP53
Amyotrophic Lateral Sclerosis 1
Lynch Syndrome
Cystic Fibrosis
COL4A5
Cowden Syndrome 1
Trp53
Dilated Cardiomyopathy
Phenylketonuria
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Pathogenicity Predictor
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Collapase
Clinical Significance
Pathogenic
(RDDC)
Gene
CFTR
Variant type
Mutation (CDS/UTR)
Splicing Alteration
Related Disease
Cystic Fibrosis
Vas Deferens, Congenital Bilateral Aplasia of
Pancreatitis, Hereditary
Bronchiectasis with or Without Elevated Sweat Chloride 1
Hereditary Chronic Pancreatitis
Male Infertility
Prss1-Related Hereditary Pancreatitis
Spermatogenic Failure, Y-Linked, 2
Nuchal Bleb, Familial
Azoospermia
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Comparison
Al agent
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