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Chongqing probands carrying 3 mutations including LRP5.
| Mutated gene | Mutation site | Nucleotide changes | Amino acid changes | Variation | Source | |
|---|---|---|---|---|---|---|
| FEVR-051 | LRP5 | chr11-68171037 | c.C1671A | p.F557L | C-A | Father |
| KIF11 | chr10-94396989 | c.C1924G | p.P642A | C-G | Mother | |
| CAPN5 | chr11-76830152 | c.G1244A | p.R415Q | G-A | Mother |
