Table 3.
Gene | Chr | Position (hg18) | Genotype | Frequency | Distance to Splice | Location | SIFT | PPH2 | MutationTaster | Sample origin |
---|---|---|---|---|---|---|---|---|---|---|
PDE10A | chr6 | 165782464 | 0/1 | 3 Patients | 9 | c.347-10 A>C | * | * | Disease Causing | Somatic |
PDE4B | chr1 | 66231291 | 0/1 | 1 Patient | 123 | p.Asn38Lys | Tolerated | Benign | Polymorphism | Somatic |
PDE6C | chr10 | 95408566 | 0/1 | 1 Patient | 80 | Intronic | * | * | Polymorphism | Germline |
PDE7B | chr6 | 136536633 | 0/1 | 1 Patient | 6 | p.Met239Ile | Tolerated | Benign | Disease Causing | Germline |
Unmeasurable; Chr: chromosome.