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. 2019 Aug 27;9:12387. doi: 10.1038/s41598-019-48448-y

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© The Author(s) 2019

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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Five sequencing chromatograms of patients with variants. Each part includes a chromatogram, an interpreted sequence, reference sequences (human), and an amino acid sequence (left side). The area of intron is marked within a rectangle with a dotted line, and the sites of variants are marked within the rectangle with a solid line. The underlying lines below the sequence indicate reading frames. (A) CCM1 in Patient 20: one missense (G > C) and one deletion (del-A) variant within exon 18, leading to frameshift. (B) CCM1 in Patient 40: one splice site variant (G > C) at the first base pair of intron 8. (C) CCM1 in Patients 57, 66, and 67: one 3-base pair deletion (del-GTA) variant in intron 13, alternating mRNA splicing. (D) CCM2 in Patient 54: one 4-base pair insertion variant (ins-GCCC) within exon 4, causing frameshift. (E) CCM2 in Patient 69: one missense variant (G > A) within exon 9.