GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PDE6A R29Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
PDE6A A145Tinsufficiently evaluated not reviewed, f=0.009unknown

(1 web hit)

var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
PDE6A N216Sinsufficiently evaluated none, f=0.043unknown

(7 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19129-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
PDE6A A262Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
PDE6A S344Rinsufficiently evaluated pathogenicunknown

(4 web hits)

PDE6A V391Minsufficiently evaluated not reviewed, f=0.017unknown

(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 T424Ainsufficiently evaluated not reviewedunknown
PDE6A F450Sinsufficiently evaluated noneunknown
PDE6A Q492Hinsufficiently evaluated not reviewed, f=0.005unknown 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 W561Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PDE6A Y583Xinsufficiently evaluated pathogenicunknown

(2 web hits)

PDE6A H655Yinsufficiently evaluated not reviewed, f=0.021unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_C01_200_37
PDE6A T717Pinsufficiently evaluated noneunknown
PDE6A K827Delinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
PDE6A G850Vinsufficiently evaluated not reviewed, f=0.001unknown

(2 web hits)

Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

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