Fig. 3

Variant filter flow chart. To identify the underlying variant, we performed strict filter procedures. Benign*: variants occurred in the noncoding region and no prediction indicated pathogenic or likely pathogenic. Morderate^: variants occurred in the coding region, but no prediction implied pathogenic or likely pathogenic

ACMG standards: variants were classified with the rules of combining criteria of the ACMG guidelines, and 5 of the pathogenic variants were identified