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) |