Table 2. Additional IRD gene variants in CACNA1F patients.
| Patient ID | Gene | Transcript | Zygosity | cDNA position | Protein change | Polyphen-2 | SIFT | Provean | MutationTaster | dbSNP | ExAC Frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 |
SEMA4A |
NM_022367.3 |
heterozygous |
c.2138G>A |
p.(Arg713Gln) |
Possibly damaging |
Tolerated |
Neutral |
Polymorphism |
rs41265017 |
A=4,297/ G=121,356 |
|
PDE6A |
NM_000440.2 |
heterozygous |
c.251A>T |
p.(Lys84Met) |
Benign |
Damaging |
Deleterious |
Polymorphism |
NA |
T=11/ A=121,396 |
|
|
PDE6B |
NM_000283.3 |
heterozygous |
c.1412C>T |
p.(Ala471Val) |
Benign |
Damaging |
Neutral |
Polymorphism |
rs182071364 |
T=17/ C=119,914 |
|
|
RPGR a |
NM_001034853.1 |
hemizygous |
c.1163C>T |
p.(Ala388Val) |
Benign |
Tolerated |
Neutral |
Polymorphism |
rs199661899 |
T=16/ C=85,833 |
|
| 2 |
USH2A |
NM_206933.2 |
heterozygous |
c.9286G>A |
p.(Val3096Met) |
Probably damaging |
Damaging |
Neutral |
Polymorphism |
rs147267500 |
A=6/ G=121,394 |
| PDE6A | NM_000440.2 | heterozygous | c.1214A>G | p.(Asn405Ser) | Probably damaging | Damaging | Deleterious | Disease causing | rs145107955 | G=20/ A=121,278 |
a Known polymorphism reported in [71].