GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TTPA H101Qinsufficiently evaluated pathogenicunknown

(5 web hits)

TTPA R134Xinsufficiently evaluated pathogenicunknown

(2 web hits)

TTPA I171Tinsufficiently evaluated not reviewedunknown var-GS19240-1100-36-ASM
TTPA R192Hinsufficiently evaluated pathogenicunknown

(1 web hit)

TTPAL Q97Kinsufficiently evaluated not reviewed, f=0.007unknown var-GS19017-1100-36-ASM
TTPAL D149Ginsufficiently evaluated not reviewedunknown
TTPAL N181Dinsufficiently evaluated not reviewedunknown
TTPAL A278Ginsufficiently evaluated none, f=0.024unknown CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
Total results: 8

Gene search

"GENE" or "GENE A123C":

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