| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|---|---|---|---|
| PDE6A R29Q | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS19670-1100-36-ASM | |
| PDE6A A145T | insufficiently evaluated not reviewed, f=0.009 | unknown |
(1 web hit) | var-GS18504-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 | ||||
| PDE6A N216S | insufficiently evaluated none, f=0.043 | unknown |
(7 web hits) | CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| var-GS19129-1100-36-ASM (hom) | ||||
| var-GS18508-1100-36-ASM | ||||
| PDE6A A262T | insufficiently evaluated not reviewed | unknown | CGI sample GS01175-DNA_D01 from PGP sample 31286272 | |
| PDE6A S344R | insufficiently evaluated pathogenic | unknown |
(4 web hits) | |
| PDE6A V391M | insufficiently evaluated not reviewed, f=0.017 | unknown |
(2 web hits) | var-GS19704-1100-36-ASM |
| var-GS19239-1100-36-ASM | ||||
| CGI sample GS00253-DNA_B02_200_37 | ||||
| var-GS18505-1100-36-ASM | ||||
| PDE6A T424A | insufficiently evaluated not reviewed | unknown | ||
| PDE6A F450S | insufficiently evaluated none | unknown | ||
| PDE6A Q492H | insufficiently evaluated not reviewed, f=0.005 | unknown | PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) | |
| hu232307 build 36 substitution variants | ||||
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 | ||||
| PDE6A W561X | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| PDE6A Y583X | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| PDE6A H655Y | insufficiently evaluated not reviewed, f=0.021 | unknown | CGI sample GS00253-DNA_E01_200_37 | |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 | ||||
| CGI sample GS00253-DNA_C01_200_37 | ||||
| PDE6A T717P | insufficiently evaluated none | unknown | ||
| PDE6A K827Del | insufficiently evaluated not reviewed, f=0.008 | unknown | CGI sample GS00253-DNA_B02_200_37 | |
| PDE6A G850V | insufficiently evaluated not reviewed, f=0.001 | unknown |
(2 web hits) | |
| Page: 1 2 Total results: 15 | ||||