Table 2 Mutations identified in the WS probands.

From: Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

Proband	Gene	Mutation type	Nucletide change^*	Amino acid change	Allele frequencies in			Novelty	De novo
Proband	Gene	Mutation type	Nucletide change^*	Amino acid change	ExAC	1000 Genomes	300 Chinese Han controls	Novelty	De novo
W2-1	PAX3	Nonsense	c.667C>T	p.R223X	0.000008241	0	0	Reported¹	Yes
D3-1	PAX3	Nonsense	c.667C>T	p.R223X	0.000008241	0	0	Reported¹	Unknown
B5-1	PAX3	Nonsense	c.784C>T	p.R262X	0	0	0	Reported²	Unknown
W24-1	PAX3	Deletion	Unspecified^**	Unspecified^**	0	0	0	Novel	No
W9-1	PAX3	Splice site	c.1174-2A>T	p.V392fs	0	0	0	Novel	No
W22-1	PAX3	Missense	c.248T>G	p.V83G	0	0	0	Novel	Unknown
W8-1	SOX10	Frameshift indel	c.1083delG	p.G362fs	0	0	0	Novel	Yes
W10-1	SOX10	Frameshift indel	c.1074delA	p.E359fs	0	0	0	Novel	Unknown
W11-1	SOX10	Frameshift indel	c.495-496insA	p.D167fs	0	0	0	Novel	Unknown
W12-1	SOX10	Frameshift indel	c.36-54del19bp	p.V15fs	0	0	0	Novel	Unknown
D680-1	SOX10	Frameshift indel	c.400delC	p.134Lfs	0	0	0	Novel	Unknown
W25-1	SOX10	Frameshift indel	c.1095delG	p.G366fs	0	0	0	Novel	Yes
W47-1	SOX10	Frameshift indel	c.690delC	p.H230fs	0	0	0	Novel	Yes
W3-1	SOX10	Nonsense	c.119C>A	p.S40X	0	0	0	novel	Unknown
W4-1	SOX10	Nonsense	c.589C>T	p.Q197X	0	0	0	novel	No
W23-1	SOX10	Nonsense	c.255G>A	p.W85X	0	0	0	Reported³	Yes
W26-1	SOX10	Non-frameshift indel	c.396-397ins21bp	p.132_133ins7aa	0	0	0	Novel	Yes
W17-1	SOX10	Missense	c.340T>C	p.W114R	0	0	0	Novel	Yes
W27-1	SOX10	Missense	c.326A>G	p.N109S	0	0	0	Novel	Yes
W44-1	MITF	Frameshift indel	c.494delC	p.P165fs	0	0	0	Novel	No
W14-1	MITF	Nonsense	c.328C>T	p.R110X	0	0	0	Reported⁴	No
W21-1	MITF	Nonsense	c.763C>T	p.R255X	0	0	0	Reported⁶	Unknown
W46-1	MITF	Nonsense	c.763C>T	p.R255X	0	0	0	Reported⁶	No
D2-1	MITF	Nonsense	c.775C>T	p.R259X	0	0	0	Reported⁷	Unknown
W19-1	MITF	Nonsense	c.808C>T	p.R270X	0	0	0	Novel	No
W18-1	MITF	Splice site	c.710+1G>T	p.P237fs	0	0	0	Reported⁵	Unknown
W16-4	MITF	No-stop	c.1258T>C	p.X420Qext51	0	0	0	Novel	No
W33-1	MITF	Missense	c.641G>A	p.R214Q	0	0	0	Novel	No

^*The referenced sequences are NM_181459 for PAX3, NM_006941 for SOX10 and NM_000248 for MITF.
^**Suggested by haplotype non-segregation of a PAX3 p.T31S variant in Family W24.

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Table 2 Mutations identified in the WS probands.

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