GET-Evidence: Search

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VariantImpactInheritance patternSummaryGenomes
ATXN2 L107Vinsufficiently evaluated none, f=0.742unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ATXN2 S248Ninsufficiently evaluated none, f=0.044unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
ATXN2 R566Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
ATXN2 E837Dinsufficiently evaluated not reviewedunknown
ATXN2 Q1044Ninsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B01_200_37
ATXN2 Y1058Hinsufficiently evaluated not reviewedunknown
ATXN2 M1104Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
ATXN2 P1166Linsufficiently evaluated noneunknown
ATXN2 P1166Sinsufficiently evaluated noneunknown
ATXN2L V198Iinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS000006909
var-GS06985-1100-36-ASM
ATXN2L G371Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
ATXN2L M802Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
ATXN2L AL918TPinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ATXN2L R1056Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
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Total results: 14

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