GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
XPA C108Finsufficiently evaluated pathogenicunknown

(4 web hits)

XPA Y116Xinsufficiently evaluated pathogenicunknown

(3 web hits)

XPA K183Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
XPA R207Xinsufficiently evaluated pathogenicunknown

(2 web hits)

XPA R228Xinsufficiently evaluated pathogenicunknown

(6 web hits)

XPA L252Vinsufficiently evaluated not reviewed, f=0.012unknown var-GS18502-1100-36-ASM
XPA M256Vinsufficiently evaluated none, f=0.009unknown var-GS19020-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
Total results: 7

Gene search

"GENE" or "GENE A123C":

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