Table 2 of Aparisi, Mol Vis 2010; 16:2948-2954. Table 2 of Aparisi, Mol Vis 2010; 16:2948-2954.
Table 2. Novel DNA sequence variants in the USH1C gene identified from our cohort of 33USH patients.
| Exonic variants | ||||
|---|---|---|---|---|
| Exon | Nucleotide change | Amino acid change | SNPs | Allele frequency |
| 7 | c.569C>T | p.S190L | 1/66 | |
| 14 | c.1136G>A | p.G379D | 1/66 | |
| Intronic variants | ||||
| Intron | Nucleotide change | SNPs | Allele frequency | |
| 2 | c.104+23T>C | 5/66 | ||
| c.105–54T>G | 4/66 | |||
| 5 | c.496+33A>G | rs12795083 | 8/66 | |
| c.496+66G>T | rs45552041 | 5/66 | ||
| c.497–104A>G | 6/66 | |||
| c.497–72G>T | rs28671305 | 4/66 | ||
| 7 | c.580–51T>C | rs36001077 | 4/66 | |
| 9 | c.760–66T>C | rs4757539 | 19/66 | |
| 10 | c.819+10G>C | rs41282936 | 1/66 | |
| c.819+66A>G | 3/66 | |||
| 13 | c.1086–12G>A | rs11024318 | 2/66 | |
| 25 | c.2490+56G>C | 1/66 | ||
| c.2491–100C>G | 1/66 | |||
| 26 | c.2547–21T>C | 1/66 | ||
| c.2547–11T>C | rs10832795 | 26/66 | ||
| 27 | c.2656–47C>T | rs2072225 | 9/66 | |
| 28 | c.3141+215A>G | 25/66 | ||
| c.3141+190C>T | 25/66 | |||
| c.3141+49T>C | 24/66 | |||
| c.*420_423delAACA 3′UTR | 2/66 | |||