Table 2.
Genetic variants identified in RPGR gene in patients with PacBio sequencing.
| ID | Nucleotide Variant | rsID | Verdict | Zygosity |
|---|---|---|---|---|
| 1 | NM_001034853.2:c.2919_2940dup | / | Likely Pathogenic | 0/1 |
| 2 | NM_001034853.2:c.2203_2226del | rs768423834 | Uncertain Significance | 0/1 |
| 3 | NM_001034853.2:c.2203_2226del | rs768423834 | Uncertain Significance | 1/1 |
| 4 | NM_001034853.2:c.2820_2841dup | / | Likely Pathogenic | 0/1 |
| 5 | NM_001034853:c.1871A>C | / | Uncertain Significance | 0/1 |
| 6 | NM_001034853:c.3423G>T | / | Uncertain Significance | 1/1 |
| 7 | NM_001034853.2:c.3262_3263insA | / | Likely Pathogenic | 0/1 |
| 8 | NM_001034853.2:c.2820_2841dup | / | Likely Pathogenic | 0/1 |