A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II

Table 1

Genetic variants found in this family.

Gene	Variant	Protein level	Type	Father	Mother	Proband
SOX10	c.246delC	p.Giy82GlyfsX27	Heterozygous	Normal	Normal	Heterozygous
SLC26A4	c.919-2A>G	Splicing	Heterozygous	Heterozygous	Normal	Heterozygous