Table 1.
Haplotypes at EIF3F in 15 families
| Pedigree | Combination of haplotypes in… | ||
|---|---|---|---|
| …Affected individual | …Mother (frequency of 2nd haplotype) | …Father (frequency of 2nd haplotype) | |
| P1 | CCACCGC/CCACCGC | CCACCGC/CCACTGC (0.534) | CCACCGC/CTGCTGT (0.124) |
| P2 | [C]CACCGC/[C]CACCGC | [C]CACCGC/[C]CACTGC (0.534) | [C]CACCGC/[C]CGACGC (0.158) |
| P3 | [C]CACCGC/[C]CGACGC§ | [C]CACCG[C]/[C]CACTG[C] (0.534) | [C]CGACG[C]§/[C]CACTG[C] (0.534) |
| P4 | [c]CACC[g]C/[c]CACC[g]C | [c]CACC[g]C/[c]CGCC[c]C (0.095) | [c]CACC[g]C/[c]CACT[g]C (0.534) |
| P6 | CCACCGC/CCACCGC | [C]CACCGC/[C]CGCCGC (0.095) | [C]CACCG[C]/[C]CGACG[C] (0.158) |
| P7 | CCACCGC/CCACCGC | CCACCGC/CTGCTGT (0.124) | CCACCGC/CCACCGC (0.035) |
| P9 | CCACCGC/CCACCGC | CCACCGC/CCACTGC (0.534) | CCACCGC/CCGCCGC (0.095) |
| P10 | [C]CACCGC/[C]CACCGC | [C]CCCG[C]/[C]C[x]CTG[C] (n.a.) | [C]CACCG[C]/[C]CACTG[C] (0.534) |
| P11 | CCACCGC/CCACCGC | CCACCGC/CCACTGC (0.534) | CCACC[G]C/CCACT[G]C (0.534) |
| P12 | [C]CACCGC/[C]CACCGC | CCACCGC/TTGCTTT (0.047) | [C]CACCGC/[C]CACTGC (0.534) |
| P13 | CCACCGC/CCACCGC | CCACCGC/CCGCCGC (0.095) | CCACCGC/CCACTGC (0.534) |
| P14 | CCACCGC/CCACCGC | No WES | No WES |
| P15 | CCACCGC/CCACCGC | No WES | No WES |
| P16 | CCACCGC/CCACCGC | No WES | No WES |
| P17 | {C}CACC{G}C/{C}CACC{G}C | CCACC[G]C/CTGCT[G]T (0.124) | CCACCGC/CCACTGC (0.534) |
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 1818 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 1818 control WES
P, pedigree; n.a, not applicable
§c.861dup/ p.(Gln288AlafsTer14) is on the underlined haplotype in P3 (frequency of 0.158 in controls)