GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CTSD A58Vinsufficiently evaluated none, f=0.065unknown

(11 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
var-GS18558-1100-36-ASM
CGI sample GS000005532
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS19669-1100-36-ASM
CTSD F229Iinsufficiently evaluated pathogenicunknown

(23 web hits)

CTSD V272Ginsufficiently evaluated not reviewedunknown
CTSD W383Cinsufficiently evaluated pathogenicunknown

(15 web hits)

CTSD R411Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
Total results: 5

Gene search

"GENE" or "GENE A123C":

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