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Urumqi probands carrying 2 mutations including LRP5.
| Mutated gene | Mutation site | Nucleotide changes | Amino acid changes | Variation | Source | |
|---|---|---|---|---|---|---|
| FEVR-73963 | LRP5 | chr11-68153817 | c.1049C>T | p.T350M | C-T | Father |
| chr11-68192694 | c.1618A>G, c.3361A>G | p.N540D, p.N1121D | A-G | Father | ||
| chr11-68201253 | c.2204G>, c.3947G>A | p.R735H, p.R1316H | G-A | Mother | ||
| CFTR | Chr7-117246728 | c.2909G > A | p.G970D | G-A | Father |
