GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PRKCSH L3Sinsufficiently evaluated not reviewedunknown
PRKCSH K59Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19703-1100-36-ASM
PRKCSH K59Tinsufficiently evaluated not reviewedunknown
PRKCSH A291Pinsufficiently evaluated not reviewedunknown
PRKCSH A291Tinsufficiently evaluated none, f=0.159unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
var-GS07357-1100-36-ASM (hom)
hu232307 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PRKCSH Q413Xinsufficiently evaluated pathogenicunknown

(4 web hits)

PRKCSH Y422Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PRKCSH P510Linsufficiently evaluated noneunknown
PRKCSH P513Linsufficiently evaluated none, f=0.000unknown
Total results: 9

Gene search

"GENE" or "GENE A123C":

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