Table 2. Genetic analysis and variant characterization in RP patients.
| Patient | Gene | Variant | aa change | gnomAD frequency | Polyphen-2 | SIFT | Mutation Taster |
|---|---|---|---|---|---|---|---|
| RP1.03 |
CRB1 |
NM_001257966: c.1690G>T |
p.Asp564Tyr |
. |
damaging |
damaging |
disease causing |
|
NM_001257966: c.1913C>T |
p.Ser638Leu |
1.592e-05 |
damaging |
damaging |
disease causing |
||
| RP2.03 |
PDE6B |
NM_000283: c.1920+2T>C |
p.? |
7.974e-06 |
. |
. |
disease causing |
| RP3.03 |
ABCA4 |
NM_000350: c.5908C>T |
p.Leu1970Phe |
0.003 |
possibly damaging |
tolerated |
disease causing |
| NM_000350: c.6148G>C | p.Val2050Leu | 0.00286 | possibly damaging | tolerated | disease causing |