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. 2018 Jul 5;8:10176. doi: 10.1038/s41598-018-27951-8

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© The Author(s) 2018

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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RNA-seq analysis of BEST1 transcript isoforms. Top panel shows structure of seven human protein-coding BEST1 transcript isoforms annotated by Ensembl (release 75), and the location of two mutations p.Arg47His and p.Val216Ile. Gray boxes represent exons. Green vertical line and red vertical line indicate ORF start and stop, respectively. Bottom panel shows average per-base read coverage and junction read counts (middle).