GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PUS1 R116Winsufficiently evaluated pathogenicunknown

(17 web hits)

PUS1 D133Ninsufficiently evaluated not reviewed, f=0.003unknown var-GS18558-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS19669-1100-36-ASM
PUS1 E220Xinsufficiently evaluated pathogenicunknown

(11 web hits)

PUS10 A12Tinsufficiently evaluated not reviewedunknown
PUS10 K42Einsufficiently evaluated noneunknown
PUS10 N46Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
PUS10 A277Tinsufficiently evaluated not reviewed, f=0.014unknown var-GS18501-1100-36-ASM
PUS10 Q371Rinsufficiently evaluated not reviewed, f=0.001unknown
Total results: 8

Gene search

"GENE" or "GENE A123C":

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