Table 1 of Vozzi, Mol Vis 2011; 17:1662-1668. 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 |