Variant Data: The high global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants.

Variants interpreted by Invitae are shown in the spreadsheet "Variants interpreted by Invitae." This spreadsheet includes variants of uncertain significance that were excluded as described in the methods. In addition to the variants shown in this spreadsheet, 53 copy number variants interpreted at Invitae were included in the analysis and are provided in the spreadsheet "CNV data." The gnomAD presumed loss of function variants are provided in the spreadsheet "gnomAD pLoF variant data."

由Invitae完成解读的变异位点，收录于名为"Variants interpreted by Invitae"的电子表格内。该电子表格包含了如研究方法中所述的、已被排除的意义未明变异（variants of uncertain significance）。除本电子表格所列变异外，另有53例由Invitae解读的拷贝数变异（copy number variants, CNV）被纳入本次分析，并收录于名为"CNV data"的电子表格中。gnomAD推定功能丧失变异集则收录于名为"gnomAD pLoF variant data"的电子表格内。