GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATXN1 G42Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
ATXN1 P149Linsufficiently evaluated noneunknown
ATXN1 S186Cinsufficiently evaluated none, f=0.002unknown
ATXN1 Q208Hinsufficiently evaluated not reviewedunknown
ATXN1 H209Qinsufficiently evaluated none, f=0.033unknown
ATXN1 H211Qinsufficiently evaluated none, f=0.030unknown
ATXN1 S287Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000006909
ATXN1 A294Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ATXN1 R403Cinsufficiently evaluated not reviewed, f=0.005unknown var-GS18508-1100-36-ASM
ATXN1 S613Iinsufficiently evaluated noneunknown
ATXN1 I730Vinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_F01_200_37
ATXN1 P753Sinsufficiently evaluated not reviewed, f=0.146unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
ATXN10 A60Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
var-GS19834-1100-36-ASM
ATXN10 L289Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
ATXN1L S594Ginsufficiently evaluated none, f=0.173unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
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Total results: 15

Gene search

"GENE" or "GENE A123C":

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