Figure 1.

Algorithm of the selection of pathogenic or likely pathogenic variants. The exomes were first screened for variants from the ACMG 59 gene list. Then, the identified variants were included into the reported group or candidate group if they met the criteria. After application of all available lines of evidence and the ACMG standard guidelines, the identified variants were classified into three categories: pathogenic/likely pathogenic, uncertain significance, and benign/likely benign