GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AAAS Q15Kinsufficiently evaluated pathogenic, f=0.000unknown

(28 web hits)

AAAS S198Ainsufficiently evaluated noneunknown
AAAS S263Pinsufficiently evaluated pathogenicunknown

(24 web hits)

AAAS R312Xinsufficiently evaluated pathogenicunknown

(7 web hits)

AAAS R401Qinsufficiently evaluated not reviewedunknown
AAAS L430Finsufficiently evaluated pathogenicunknown

(10 web hits)

AAAS F431Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
AAAS R434Qinsufficiently evaluated none, f=0.000unknown CGI sample GS00253-DNA_A01_200_37
AAAS R478Xinsufficiently evaluated pathogenicunknown

(34 web hits)

AAAS G533Rinsufficiently evaluated not reviewed, f=0.007unknown

(1 web hit)

var-GS19017-1100-36-ASM
Total results: 10

Gene search

"GENE" or "GENE A123C":

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