GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PFKM H2Linsufficiently evaluated not reviewedunknown
PFKM R39Linsufficiently evaluated pathogenicunknown

(3 web hits)

PFKM R39Pinsufficiently evaluated pathogenicunknown

(2 web hits)

PFKM R95Xinsufficiently evaluated pathogenicunknown

(2 web hits)

PFKM R100Qinsufficiently evaluated none, f=0.171unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
PFKM R171Qinsufficiently evaluated not reviewedunknown
PFKM R376Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
PFKM Q447Kinsufficiently evaluated not reviewed, f=0.002unknown var-GS19648-1100-36-ASM
PFKM D543Ainsufficiently evaluated pathogenicunknown

(3 web hits)

PFKM W686Cinsufficiently evaluated pathogenicunknown

(35 web hits)

PFKM R696Hinsufficiently evaluated not reviewed, f=0.012unknown hu232307 build 36 substitution variants
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PFKM R714Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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