GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DKC1 Q31Kinsufficiently evaluated pathogenicunknown

(5 web hits)

DKC1 F36Vinsufficiently evaluated pathogenicunknown

(1 web hit)

DKC1 I38Tinsufficiently evaluated pathogenicunknown

(3 web hits)

DKC1 P40Rinsufficiently evaluated pathogenicunknown

(3 web hits)

DKC1 T49Minsufficiently evaluated pathogenicunknown

(7 web hits)

DKC1 L72Yinsufficiently evaluated pathogenicunknown

(1 web hit)

DKC1 S121Ginsufficiently evaluated pathogenicunknown

(5 web hits)

DKC1 A353Vinsufficiently evaluated pathogenicunknown

(55 web hits)

DKC1 T357Ainsufficiently evaluated pathogenicunknown

(5 web hits)

DKC1 G402Einsufficiently evaluated pathogenicunknown

(10 web hits)

DKC1 G486Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS18508-1100-36-ASM
DKC1 K505Delinsufficiently evaluated not reviewed, f=0.011unknown var-GS19670-1100-36-ASM (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
DKC1 K505KKinsufficiently evaluated not reviewedunknown var-GS20509-1100-36-ASM (hom)
Page: 1 2
Total results: 13

Gene search

"GENE" or "GENE A123C":

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