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. Author manuscript; available in PMC: 2020 Jun 12.
Published in final edited form as: JAMA Netw Open. 2020 Apr 1;3(4):e203959. doi: 10.1001/jamanetworkopen.2020.3959

Figure 1.

Figure 1.

Filtration and Classification of Variants Identified by Whole-Exome Sequencing

Variants excluded (allele frequency [H11350]0.005) in the Genome Aggregation Database.37 Predicted loss-of-function variants do not necessarily meet all current standards to be classified as pathogenic or likely pathogenic.