AGEX - Alagille Genetics Exploration Database
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JAG1
Missense
Nonsense
Frameshift
Splice site variants
Large structural changes
NOTCH2
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SL.No.
Nucleotide Variant
Protein Variant
Genomic Coordinates
Exon
Protein Domain
Population
Age During Study
Gender
Family History
ClinVar Significance
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