Table 2. Genetic variants found in this family with WS4.

Gene	Variant	Protein level	Type	Father	Mother	Report
Sox10	c.1333delT	p.Ser445Glnfs*57	heterozygous	Normal	Normal	No
MITF	c.1363C > A	p.Leu455Ile	heterozygous	heterozygous	Normal	Yes