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. 2017 Dec 18;7:17744. doi: 10.1038/s41598-017-17564-y

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Prevalence of primary UQ deficiency based on known and predicted pathogenic variants. (A) Predicted number of afflicted individuals due to compound heterozygosity or homozygosity of known or predicted pathogenic variants, as denoted on x-axis, for each population. (B) Frequency of afflicted individuals within each analyzed population. (C) Contribution of known or predicted pathogenic variants to the frequency or number of afflicted individuals within each population. The fold-difference between known pathogenic variants only, and the total of known and predicted pathogenic variants, is shown on the x-axis.