Potential mutations that cause ARVC
Referring to the Guidelines of the American Society for Medical Genetics and Genomics (ACMG) and ClinGen sequence variation interpretation and the recommendations of the expert Group on the application of the guidelines, first exclude the mutation sites with a mutation frequency greater than 1% in the database.The functional mutation loci were removed, and then the pathogenicity prediction (SIFT, Polyphen2, CADD and other software), clinical symptom control, related disease database query and literature reference were comprehensively considered to find the candidate gene mutation loci for family verification