New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

Table 1

All data for family cases.

Family ID	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15	16	17		18
Subject ID	2.3.	14.15.	17.18.19.	20.21.	23.24.25.26.27.	28.29.	31.32.	34.35.	38.39.	40.41.42.43.	45.46.	49.50.	51.52.	53.54.	58.59.60.	61.62.63.64.	65.66.		67.68.
Gene	PAX3	SOX10	SOX10	SOX10	MITF	MITF	NA	PAX3	PAX3	MITF	NA	PAX3	PAX3	PAX3	NA	MITF	PAX3	EDNRB	MITF
Mutation	c.238C>G	c.743_744delAG	c.254G>A	c.122G>T	c.763C>T	c.328 C>T	—	c.784C>T	c.232G>A	c.944_946del	—	c.808C>G	c.117C>A	c.452-2A>G	—	c.1013+1G>A	c.793-3T>G	c.469A>G	c.1022_1023delTC
Protein mutation	p.H80D	p. E248Afs32	p.W85	p.G41V	p. R255	p.R110	—	p.R262	p.V78M	NA	—	,p.R270G	p.N39K	—	—	NA	NA	p.I157V	p.L341Rfs18

NA in gene: the molecular etiology of cases that remained unexplained. NA in protein mutation: protein changes that cannot be described.