AGEX - Alagille Genetics Exploration Database



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SL.No. Nucleotide Variant Protein Variant Genomic Coordinates Exon Protein Domain Population Age During Study Gender Family History ClinVar Significance Pathogenicity prediction ClinVar Accession Reference Clinical features

*Pathogenicity predictions for missense mutations are done using polyphen2 and for nonsense mutations, mutation taster is used. Rows with (ACMG) are ACMG predictions. CIOP = "Conflicting interpretation of pathogenicity".