Table 4 of Xu, Mol Vis 2011; 17:1537-1552. Table 4 of Xu, Mol Vis 2011; 17:1537-1552.
Table 4. Disease-causing mutations in the Usher syndrome type IIA (USH2A) gene identified in this study
| DNA change |
Exon |
Protein change |
Type of nucleotide change |
Family number |
Frequency |
Source |
|---|---|---|---|---|---|---|
| c.2802T>G | 13 | p.C934W | Heterozygous | FR1 | 2/200 | This study |
| c.8232G>C | 42 | p.W2744C | Heterozygous | 0/200 | This study | |
| c.1876C>T | 11 | p.R626X | Heterozygous | F6 | 0/190 | [24] |
| c.6249delT | 32 | p.I2084fs | Heterozygous | 0/200 | This study | |
| c.3788G>A | 17 | p.W1263X | Heterozygous | F7 | 0/200 | This study |
| c.9492_9498delTGATGAT | 48 | p.D3165fs | Heterozygous | 0/200 | This study | |
| c.7123delG | 38 | p.G2375fs | Heterozygous | F8 | 0/200 | This study |
| c.14403C>G | 66 | p.Y4801X | Heterozygous | 0/200 | This study |