GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HGSNAT P311Linsufficiently evaluated pathogenicunknown

(2 web hits)

HGSNAT R344Cinsufficiently evaluated pathogenicunknown

(5 web hits)

HGSNAT L349Xinsufficiently evaluated pathogenicunknown

(2 web hits)

HGSNAT P413Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS20509-1100-36-ASM
HGSNAT A498Pinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
HGSNAT M510Kinsufficiently evaluated pathogenicunknown

(1 web hit)

HGSNAT S518Finsufficiently evaluated pathogenicunknown

(5 web hits)

HGSNAT K523Qinsufficiently evaluated not reviewed, f=0.036unknown

(1 web hit)

var-GS19700-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
HGSNAT V614Iinsufficiently evaluated none, f=0.025unknown var-GS19025-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
HGSNAT A615Tinsufficiently evaluated none, f=0.004unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
Total results: 10

Gene search

"GENE" or "GENE A123C":

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