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. Author manuscript; available in PMC: 2021 Aug 18.
Published in final edited form as: J Am Coll Cardiol. 2020 Aug 18;76(7):797–808. doi: 10.1016/j.jacc.2020.06.037

Figure 1. Identification and selection of pathogenic/likely pathogenic variants in the CATHGEN cohort.

Figure 1.

In total, 49,831 variants were identified in 155 genes and 159 P/LP variants were utilized after annotation using the ACMG/AMP guidelines (Left). ACMG/AMP classification of the novel null variants in individuals with a clear clinical phenotype revealed 16 novel pathogenic variants (Right).