Fig. 1: Spectrum of pathogenic KDM6A variants. | Genetics in Medicine

Fig. 1: Spectrum of pathogenic KDM6A variants.

From: Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

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.

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