GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATXN7 K119Rinsufficiently evaluated not reviewedunknown
ATXN7 K264Rinsufficiently evaluated none, f=0.099unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_A01_200_37
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ATXN7 N325Sinsufficiently evaluated not reviewed, f=0.026unknown var-GS18504-1100-36-ASM
ATXN7 M496Vinsufficiently evaluated not reviewedunknown
ATXN7 A546Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ATXN7 R576Hinsufficiently evaluated not reviewed, f=0.001unknown var-GS19238-1100-36-ASM
ATXN7 M641Vinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_H01_200_37
ATXN7 V717Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
ATXN7 V862Minsufficiently evaluated not reviewed, f=0.394unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
ATXN7 S920Rinsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS00253-DNA_F01_200_37
ATXN7L1 I284Vinsufficiently evaluated not reviewedunknown
ATXN7L1 I408Vinsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS00253-DNA_B01_200_37
ATXN7L1 S615Ninsufficiently evaluated noneunknown
ATXN7L1 S661Delinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
ATXN7L1 A735Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
ATXN7L1 S739Ninsufficiently evaluated noneunknown
ATXN7L1 S800Ninsufficiently evaluated not reviewed, f=0.011unknown var-GS18505-1100-36-ASM
ATXN7L2 R195Sinsufficiently evaluated none, f=0.002unknown var-GS19129-1100-36-ASM
ATXN7L2 S440Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
ATXN7L3 K309Ninsufficiently evaluated not reviewedunknown
ATXN7L3 K316Ninsufficiently evaluated not reviewedunknown
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Total results: 21

Gene search

"GENE" or "GENE A123C":

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