GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PYGL V188Iinsufficiently evaluated not reviewedunknown
PYGL K215Rinsufficiently evaluated not reviewedunknown
PYGL V222Iinsufficiently evaluated none, f=0.106unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
PYGL R321Hinsufficiently evaluated not reviewed, f=0.011unknown var-GS18505-1100-36-ASM
PYGL N376Kinsufficiently evaluated pathogenicunknown

(20 web hits)

PYGL I806Linsufficiently evaluated not reviewed, f=0.011unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu232307 build 36 substitution variants
PYGL N845Sinsufficiently evaluated none, f=0.017unknown var-GS19129-1100-36-ASM
Total results: 7

Gene search

"GENE" or "GENE A123C":

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