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