Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

Fig. 1

Overview of the variant filtering scheme. Filters used are listed on the left, and the number of variants on each step are depicted on the right. QS = quality score; MAF = minor allele frequency; ExAC = Exome Aggregation Consortium; HGMD = Human Gene Mutation Database; 1000G = 1000 Genomes Project; BpG = Blueprint Genetics; ACMG = American College of Medical Genetics and Genomics

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us