Table 3 Five mutations detected by whole-exome sequencing in three patients
From: A FKBP5 mutation is associated with Paget’s disease of bone and enhances osteoclastogenesis
Gene | Location | Mutation | Amino-acid variation | Genotype | Allele frequency in ExAC |
|---|---|---|---|---|---|
FKBP5 | 6p21.31 | c.163G>C | p. Val55Leu | heterozygote | NA |
ACBD4 | 17q21.31 | c.4G>T | p. Gly2Cys | heterozygote | 0.001094 |
MYO7B | 2q21.1 | c.772A>T | p. Met258Leu | heterozygote | 0.00003357 |
AKNA | 9q32 | c.4196A>G | p. Asn1399Asp | heterozygote | NA |
CCL4L1 | 17q12 | c.197G>C | p. Gly66Ser | homozygote | NA |
