New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

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 ID	WS type	Chromosome location	Gene	Mutation	Genomic position		Population frequency
							1000g_EAS	ExAC_EAS	esp6500si_all
					Start	End
9	2	Chr3(P13)	MITF	c.110_219del110bp	110	219	—	—	—
22	2	Chr3(P13)	MITF	Duplication of exons 01 and 02	Promoter2	Exon01	—	—	—
33	2	Chr22(q13.1)	SOX10	Large fragment deletions including the whole SOX10 gene	Promoter2	Exon04	—	—	—

“—” means none.