Abbreviations:ACMG (the American College of Medical Genetics and Genomics Guidelines), AMP (the Association for Molecular Pathology), HGMD (Human Gene Mutation Database), CADD (Combined Annotation Dependent Depletion), GERP (Genomic Evolutionary Rate Profiling), gnomAD (Genome Aggregation Database), 1000G (1000 Genomes Project)
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