GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FGA I6Vinsufficiently evaluated noneunknown

(893 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 91708424
FGA D7Ninsufficiently evaluated pathogenicunknown

(1060 web hits)

FGA G12Vinsufficiently evaluated pathogenicunknown

(6 web hits)

FGA R16Cinsufficiently evaluated pathogenicunknown

(120 web hits)

FGA R16Hinsufficiently evaluated pathogenicunknown

(8 web hits)

FGA P18Linsufficiently evaluated pathogenicunknown

(2 web hits)

FGA R19Ginsufficiently evaluated pathogenicunknown

(6 web hits)

FGA R19Ninsufficiently evaluated pathogenicunknown

(2 web hits)

FGA R19Sinsufficiently evaluated pathogenicunknown

(1 web hit)

FGA V20Dinsufficiently evaluated pathogenicunknown

(5 web hits)

FGA R141Sinsufficiently evaluated pathogenicunknown
FGA S215Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000006909
FGA T312Ainsufficiently evaluated pathogenicunknown

(8 web hits)

FGA Q328Xinsufficiently evaluated pathogenicunknown

(2 web hits)

FGA S330SAGSWNSGSSGTGSinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
FGA T331Ainsufficiently evaluated none, f=0.289unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
FGA S434Ninsufficiently evaluated pathogenicunknown
FGA T456Ainsufficiently evaluated not reviewed, f=0.002unknown

(3 web hits)

FGA K461Xinsufficiently evaluated pathogenicunknown
FGA M495Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
FGA E526Vinsufficiently evaluated pathogenicunknown

(3 web hits)

FGA R554Cinsufficiently evaluated pathogenicunknown

(4 web hits)

FGA R554Linsufficiently evaluated pathogenicunknown

(1 web hit)

FGA Q784Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
Page: 1 2 3
Total results: 24

Gene search

"GENE" or "GENE A123C":

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