Table 1 of Vozzi, Mol Vis 2011; 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