GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PEX6 T64Ainsufficiently evaluated not reviewedunknown CGI sample GS000006909
PEX6 SS173PRinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
PEX6 R343Qinsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

var-GS19025-1100-36-ASM (hom)
PEX6 A549Vinsufficiently evaluated not reviewed, f=0.007unknown var-GS19704-1100-36-ASM
var-GS19026-1100-36-ASM
PEX6 R601Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
PEX6 V778Minsufficiently evaluated noneunknown
PEX6 A809Vinsufficiently evaluated none, f=0.081unknown

(5 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS19240-1100-36-ASM
PEX6 V882Iinsufficiently evaluated not reviewed, f=0.021unknown

(5 web hits)

hu3215A7 build 36 substitution variants
var-GS18501-1100-36-ASM
var-GS20509-1100-36-ASM
PEX6 R928Hinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_C01_200_37
PEX6 P939Qinsufficiently evaluated none, f=0.430unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PEX6 A956Vinsufficiently evaluated noneunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
PEX6 A979Vinsufficiently evaluated not reviewed, f=0.006unknown var-GS19704-1100-36-ASM
var-GS19026-1100-36-ASM
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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