GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
IDS V133Iinsufficiently evaluated not reviewedunknown
IDS K135Rinsufficiently evaluated pathogenicunknown

(4 web hits)

IDS FP155LQinsufficiently evaluated not reviewed, f=0.011unknown var-GS18505-1100-36-ASM
IDS P160Rinsufficiently evaluated pathogenicunknown

(1 web hit)

IDS R172Xinsufficiently evaluated pathogenicunknown

(5 web hits)

IDS T214Minsufficiently evaluated not reviewed, f=0.017unknown var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
IDS V223Iinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_C01_200_37
IDS D252Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
IDS P261Ainsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
IDS T309Ainsufficiently evaluated not reviewed, f=0.005unknown var-GS19701-1100-36-ASM
var-GS18502-1100-36-ASM
IDS S333Linsufficiently evaluated pathogenicunknown

(21 web hits)

IDS C422Ginsufficiently evaluated pathogenicunknown
IDS R443Xinsufficiently evaluated pathogenicunknown

(13 web hits)

IDS R468Qinsufficiently evaluated pathogenicunknown

(42 web hits)

IDS R468Linsufficiently evaluated pathogenicunknown

(11 web hits)

IDS R468Winsufficiently evaluated pathogenicunknown

(51 web hits)

IDS W475Xinsufficiently evaluated pathogenicunknown

(3 web hits)

IDS W502Sinsufficiently evaluated pathogenicunknown

(1 web hit)

Page: 1 2
Total results: 18

Gene search

"GENE" or "GENE A123C":

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