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. 2021 Mar 5;23(7):1202–1210. doi: 10.1038/s41436-021-01119-8

Fig. 1. Spectrum of pathogenic KDM6A variants.

Fig. 1

(a) Protein-truncating variants (PTVs) described in this study. The x-axis shows the exon–intron locations and the y-axis shows the number of variants detected. Novel PTVs are underlined. (b) Deletions described in this study. The x-axis shows the exons affected. Novel deletions are underlined. (c) Protein-altering variants (PAVs) described in this study. The x-axis shows the protein location and the y-axis shows the number of variants detected. Novel PAVs are underlined. (d) Control variants seen in gnomAD, PTVs at the top and missense variants at the bottom. The x-axis shows the protein location and y-axis shows the minor allele frequencies of missense variants. MAF minor allele frequency.