Table 2: Haplotypes at EIF3F in 13 pedigrees.
For haplotype analyses, seven intragenic SNPs were used: rs79714374, rs12421289, rs12278319, rs7941782, rs4758267, rs12420464 and rs56392532. Haplotype C-C-A-C-C-G-C harboring the missense variant, had a frequency of 3.5% in 1,818 independent, house-internal control WES from Germany. Genotypes of rs79714374 and rs56392532 in [brackets] had a low coverage, but due to very high linkage disequilibrium, their genotypes in individuals of P2, P3, P6, P10, P12, P17 could be tagged by rs12420464 and rs12421289, respectively. Genotypes in {other brackets} could be inferred in single individuals of P10, P17 due to available genotypes in other core family members and the ones in lowercase in [brackets] in P4 from haplotypes in 1,818 control WES. Abbreviation: P = pedigree, n.a = not applicable.