Table 1. adRP point mutations previously identified present in the chimeric sample.
Gene | Chromosome–Position | Primary mutation |
---|---|---|
CA4 |
17–58235763 |
c.700G>A |
CRX |
19–48342562 |
c.253–15G>A |
PRPF31 |
19–54627950 |
c.769_770insA |
PRPF8 |
17–1554116 |
c.6968_6988delGATCCGCAGAGTAAACCTCCC |
PRPH2 | 6–42672290 | c.641C>T |