. 2011 Jun 22;17:1662–1668.

Table 1. Positive cases detected with the Asper Chip.

Patient	Gene	Mutations (first allele)	Mutation (second allele)¹	Other non pathogenic variants	Clinical details²
101	USH2A	p.W3955X (c.11864G>A)	ND		Usher
110	USH2A	p.C759F (c.2276G>T)	ND		Usher I
113	PCDH15	p.T1867del (c.5601_5603delAAC)	ND		Usher II
115	USH2A	p.H308fs (c.921_922insCAGC)	c.1841–2AG splice	p.L555V (c.1663C>G) in USH2A	Usher
116	USH2A	p.R737X (c.2209C>T)	ND		Usher II
117	USH2A	p.E767fs (c.2299delG)	ND	p.T1209A (c.3625A>G) in CDH23	Usher II
119	USH2A	c.1841–2AG splice	ND	p.L555V (c.1663C>G) in USH2A	Usher
120	USH2A	p.W3955X (c.11864G>A)	ND	p.R1060W (c.3178C>T) in CDH23	Usher
125	USH2A	p.Y1123C (c.3368A>G)	ND	p.R302H (c.905G>A) in MYO7A	Usher II
129	USH2A	p.C536R (c.1606T>C)	ND		Usher II
132	USH2A	p.E767fs (c.2299delG)	ND		Usher II
136	CDH23	p.T1904T (c.5712G>A)	p.T1904T (c.5712G>A)		Usher I
138	USH2A	p.G516V (c.1547G>T)	p.G516V (c.1547G>T)		Usher
141	USH2A	p.G713R (c.2137G>C)	p.G713R (c.2137G>C)		Usher
148	MYO7A	p.A1340T (c.4018G>A)	ND		Usher II
319	USH2A	p.R63X (c.187C>T)	p.W3955X (c.11864G>A)	p.L555V (c.1663C>G) in USH2A	Usher
328	USH2A	p.A2795S (c.8383G>T)	ND		Usher
331	USH2A	p.Y1123C (c.3368A>G)	ND		Usher
334	USH2A	p.R626X (c.1876C>T)	p.V1833E (c.5498T>A)		Usher
338	CDH23	p.T1209A (c.3625A>G)			Usher
	PCDH15		p.T1867del (c.5601_5603delAAC)
353	USH2A	p.R63X (c.187C>T)		p.L555V (c.1663C>G) in USH2A	Usher
357	USH2A	p.H308fs (c.921_922insCAGC)	p.R626X (c.1876C>T)		Usher
358	USH2A	p.G516V (c.1547G>T)	p.G1132D (c.3395G>A)		Usher
389	MYO7A	p.R1873W (c.5617C>T)	ND		Usher
395	USH2A	p.E767fs (c.2299delG)	ND		Usher

¹ND: No mutation detected. ²Usher I: refers to Usher syndrome type 1; Usher II: refers to Usher syndrome type 2; Usher: refers to Usher syndrome, not classified to any subtype.