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. 2024 Mar 1;18:22. doi: 10.1186/s40246-024-00589-6

Table 2.

Overall spectrum of identified variants and proportions of mutation types

Gene Number Proportion (%) Missense Non-Missense Propotion of non-Missense (%)
FZD4 23 38.98 16 7 30.43
LRP5 18 30.51 12 6 33.33
TSPAN12 9 15.25 5 4 44.44
NDP 4 6.78 4 0 0.00
CTNNB1 1 1.69 1 0 0.00
ZNF408 2 3.39 2 0 0.00
KIF11 2 3.39 0 2 100.00