Table 4: Summary of new structure variation (SV) or CNV-detected results of the molecular screening of WS-related genes, including location of mutations and population data.

Subject IDWS typeChromosome locationGeneMutationGenomic positionPopulation frequency
1000g_EASExAC_EASesp6500si_all
StartEnd

92Chr3(P13)MITFc.110_219del110bp110219
222Chr3(P13)MITFDuplication of exons 01 and 02Promoter2Exon01
332Chr22(q13.1)SOX10Large fragment deletions including the whole SOX10 genePromoter2Exon04

“—” means none.