Table 1 of
Xu, Mol Vis 2012; 18:744-750. Table 1 of
Xu, Mol Vis 2012; 18:744-750.
Table 1. Polymorphisms detected in 100 unrelated LCA patients
| ID | Chr:bp | Alleles | HGVS names | Type | Amino acid | Number of patients |
|---|---|---|---|---|---|---|
| rs2274321 | 1:68906514 | G/A | ENST00000262340.5: c.643+22C>T | Intronic | - | 3 |
| rs12564647 | 1:68896945 | T/G | ENST00000262340.5: c.1338+20A>C | Intronic | - | 27 |
| rs12145904 | 1:68903942 | C/T | ENST00000262340.5: c.1056G>A | Synonymous coding | E352E | 26 |
| rs10626313 | 1:68894733–68894732 | -/CT | ENST00000262340.5:c.*726_*727insAG | 3 prime UTR | - | 9 |