GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ADSL P75Ainsufficiently evaluated pathogenicunknown

(23 web hits)

ADSL K147Minsufficiently evaluated not reviewed, f=0.015unknown var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
ADSL R190Qinsufficiently evaluated pathogenicunknown

(15 web hits)

ADSL A206Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19701-1100-36-ASM
ADSL M225Tinsufficiently evaluated pathogenicunknown

(4 web hits)

ADSL K246Einsufficiently evaluated pathogenicunknown

(11 web hits)

ADSL D397Yinsufficiently evaluated pathogenicunknown

(2 web hits)

ADSL S413Pinsufficiently evaluated pathogenicunknown

(11 web hits)

ADSL R426Hinsufficiently evaluated pathogenicunknown

(58 web hits)

Total results: 9

Gene search

"GENE" or "GENE A123C":

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