GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KIT A168Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
KIT A178Tinsufficiently evaluated not reviewed, f=0.004unknown var-GS18504-1100-36-ASM
var-GS19239-1100-36-ASM
KIT T274Minsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS000005532
KIT V374Iinsufficiently evaluated none, f=0.003unknown

(4 web hits)

var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
KIT N410Hinsufficiently evaluated not reviewedunknown

(17 web hits)

KIT M537Linsufficiently evaluated noneunknown

(1 web hit)

KIT M541Linsufficiently evaluated none, f=0.096unknown

(80 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19669-1100-36-ASM (hom)
KIT V559Ainsufficiently evaluated pathogenicunknown

(98 web hits)

KIT V559Dinsufficiently evaluated pathogenicunknown

(355 web hits)

KIT E583Kinsufficiently evaluated pathogenicunknown

(10 web hits)

KIT F584Cinsufficiently evaluated pathogenicunknown

(3 web hits)

KIT F584Linsufficiently evaluated pathogenicunknown

(1 web hit)

KIT M614Tinsufficiently evaluated not reviewedunknown

(3 web hits)

KIT M618Tinsufficiently evaluated not reviewedunknown
KIT K642Einsufficiently evaluated pathogenicunknown

(251 web hits)

KIT H650Rinsufficiently evaluated not reviewedunknown
KIT G664Rinsufficiently evaluated pathogenicunknown

(5 web hits)

KIT R796Ginsufficiently evaluated pathogenicunknown

(18 web hits)

KIT D816Hinsufficiently evaluated pathogenicunknown

(283 web hits)

KIT D816Yinsufficiently evaluated pathogenicunknown

(216 web hits)

KIT D816Vinsufficiently evaluated pathogenicunknown

(3670 web hits)

KIT D820Ginsufficiently evaluated pathogenicunknown

(69 web hits)

KIT E839Kinsufficiently evaluated pathogenicunknown

(27 web hits)

KIT T847Pinsufficiently evaluated pathogenicunknown
KIT R952Winsufficiently evaluated noneunknown
KIT R956Winsufficiently evaluated noneunknown
KITLG L14Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
KITLG N36Sinsufficiently evaluated pathogenicunknown
KITLG D210Yinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
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Total results: 29

Gene search

"GENE" or "GENE A123C":

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