GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PDHX G5Sinsufficiently evaluated noneunknown
PDHX R15Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
PDHX R23Cinsufficiently evaluated none, f=0.209unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
PDHX R24Ginsufficiently evaluated none, f=0.023unknown

(3 web hits)

CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PDHX E28Ginsufficiently evaluated noneunknown
PDHX T86Ainsufficiently evaluated noneunknown
PDHX T101Ainsufficiently evaluated none, f=0.243unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PDHX R189Hinsufficiently evaluated not reviewed, f=0.006unknown var-GS19834-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
PDHX Q233Einsufficiently evaluated not reviewedunknown
PDHX Q248Einsufficiently evaluated not reviewedunknown
PDHX Q248Xinsufficiently evaluated pathogenicunknown
PDHX S279Cinsufficiently evaluated not reviewedunknown
PDHX S294Cinsufficiently evaluated not reviewedunknown
PDHX V326Linsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS06985-1100-36-ASM
PDHX V352Ginsufficiently evaluated not reviewedunknown
PDHX V367Ginsufficiently evaluated not reviewed, f=0.024unknown
PDHX A437Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
PDHX F445Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
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Total results: 18

Gene search

"GENE" or "GENE A123C":

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