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. 2020 Mar 12;13(3):e002783. doi: 10.1161/CIRCGEN.119.002783

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© 2020 The Authors.

Circulation: Genomic and Precision Medicine is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.

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Figure 1. — Haplotype structure across MYBPC3. Each horizontal line (denoted A–G) represents a unique haplotype observed across MYBPC3 with the South Asian population derived from the Hypertrophic Cardiomyopathy Registry cohort (n=134). Genetic markers denoted using the following nomenclature: <chromosome>_<GRCh37 position>_<reference allele>_<alternate allele>. Grey indicates the presence of the ancestral allele. Blue shading indicates the presence of an alternate allele. The MYBPC3^Δ25 allele (11_47353825_A_del25) is emphasized using a darker shade of blue. Red shading represents the presence of the MYBPC3⁻⁵² allele (11_47364865_C_T). Haplotype A is composed entirely of reference alleles and is present in 49.9% of the cohort. MYBPC3^Δ25 is present on haplotypes D and F. Haplotype F also includes MYBPC⁻⁵². Figure generated from data provided by Haploview.