Molecular characteristics

Type of mutations
Reported disease alleles include missensesubstitutions (many in transmembrane domains of the protein), frameshifts/truncations (predicted loss-of-function), compound alleles(complex in-cis changes), whole-gene deletions/copy number variation (CNV)where an entire gene is lost, and noncoding/intronicvariants. These variants are documented in the primary literature and in ClinVar/curated variant lists (https://www.ncbi.nlm.nih.gov/clinvar/).