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

Table 2

The mutation of SOX10 in WS4 probands in the literature.

Gene	Nucleotide changes	Amino acid changes	Exon	WS subtype	Reference
SOX10	c.1333deIT	p.Ser445Glnfs57	5	WS4	6
SOX10	c.1107ins19	p.Thr370Serfs38	5	WS4	40
SOX10	c.752_753ins7	p.Gly252Alafs31	5	WS4	41
SOX10	c.895delC	p.Gln299Serfs12	5	WS4	5