GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
APRT D65Vinsufficiently evaluated pathogenicunknown

(9 web hits)

APRT W98Xinsufficiently evaluated pathogenicunknown

(2 web hits)

APRT L110Pinsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

APRT Q121Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
APRT V126Minsufficiently evaluated noneunknown

(1 web hit)

APRT M136Tinsufficiently evaluated pathogenicunknown

(17 web hits)

Total results: 6

Gene search

"GENE" or "GENE A123C":

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