GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
XDH L6Finsufficiently evaluated not reviewedunknown

(449 web hits)

XDH E133Kinsufficiently evaluated none, f=0.004unknown

(1 web hit)

var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
XDH R149Cinsufficiently evaluated pathogenicunknown

(8 web hits)

XDH G172Rinsufficiently evaluated none, f=0.023unknown

(7 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
XDH R224Qinsufficiently evaluated not reviewed, f=0.000unknown
XDH R228Xinsufficiently evaluated pathogenicunknown
XDH K395Minsufficiently evaluated not reviewed, f=0.022unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18505-1100-36-ASM
XDH P555Sinsufficiently evaluated none, f=0.004unknown var-GS19129-1100-36-ASM
XDH R576Winsufficiently evaluated not reviewed, f=0.002unknown var-GS19026-1100-36-ASM
XDH D584Ainsufficiently evaluated not reviewed, f=0.005unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18505-1100-36-ASM
XDH I646Vinsufficiently evaluated not reviewed, f=0.026unknown CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
XDH I703Vinsufficiently evaluated none, f=0.064unknown

(1 web hit)

var-GS19025-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
XDH Y736Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
XDH V1091Linsufficiently evaluated not reviewed, f=0.003unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18505-1100-36-ASM
XDH N1109Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
XDH I1179Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
XDH P1237Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
XDH K1292Rinsufficiently evaluated none, f=0.002unknown var-GS18508-1100-36-ASM
XDH R1296Winsufficiently evaluated not reviewed, f=0.013unknown

(4 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_D02 from PGP sample 27316983
XDH K1313Einsufficiently evaluated not reviewed, f=0.005unknown var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
Page: 1 2
Total results: 20

Gene search

"GENE" or "GENE A123C":

Log in