GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GK D116Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
GK M227Vinsufficiently evaluated not reviewed, f=0.009unknown var-GS19704-1100-36-ASM
GK N288Dinsufficiently evaluated pathogenicunknown

(41 web hits)

GK I329Tinsufficiently evaluated not reviewedunknown hu3215A7 build 36 substitution variants
GK I345Minsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
GK G366Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
GK G382Xinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_H05 from PGP sample 10971581
GK R413Xinsufficiently evaluated pathogenicunknown

(11 web hits)

GK D440Vinsufficiently evaluated pathogenicunknown

(10 web hits)

GK D470Ninsufficiently evaluated not reviewed, f=0.142unknown var-GS18504-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
GK D470Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_B05 from PGP sample 86486261
GK E485Kinsufficiently evaluated not reviewed, f=0.114unknown hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
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
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
GK W503Rinsufficiently evaluated pathogenicunknown

(8 web hits)

GK G545Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
GK G551Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
GK2 R155Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
GK2 Y279Cinsufficiently evaluated not reviewed, f=0.004unknown var-GS19020-1100-36-ASM
GK2 K389Ninsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_G01_200_37
GK2 N431Sinsufficiently evaluated not reviewed, f=0.001unknown
GK2 D440Hinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_G01_200_37
GK2 G458Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
GK5 T198Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
GK5 P398Sinsufficiently evaluated not reviewed, f=0.000unknown
GK5 K418Einsufficiently evaluated not reviewed, f=0.000unknown var-GS18504-1100-36-ASM
GKAP1 V275Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
GKAP1 R366Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
GKN2 I51Vinsufficiently evaluated none, f=0.056unknown var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
GKN2 D65Yinsufficiently evaluated none, f=0.038unknown var-GS19703-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
GKN2 I101Finsufficiently evaluated none, f=0.008unknown var-GS18517-1100-36-ASM
GKN2 S113Ninsufficiently evaluated none, f=0.213unknown var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
GKN2 A162Vinsufficiently evaluated none, f=0.015unknown

(1 web hit)

var-GS19020-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18502-1100-36-ASM
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Total results: 31

Gene search

"GENE" or "GENE A123C":

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