Table 3.
Haplotype Reconstruction for Individuals Carrying c.1115C>A, p.(Pro372His) Variant
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Haplotypes were reconstructed using WGS datasets (NIHR-RD and 100KGP study).
c.1115C>A, p.(Pro372His) variant. # undetermined single nucleotide polymorphism (SNP). Shaded haplotype is shared. Underlined individuals are c.1115C>A, p.(Pro372His) variant carriers.