GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ENG T5Minsufficiently evaluated not reviewed, f=0.048unknown var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
ENG L12Pinsufficiently evaluated noneunknown

(116 web hits)

ENG Y120Xinsufficiently evaluated pathogenicunknown

(3 web hits)

ENG G191Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
ENG L209Finsufficiently evaluated not reviewed, f=0.009unknown var-GS19700-1100-36-ASM
ENG Y277Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ENG D366Hinsufficiently evaluated not reviewed, f=0.001unknown var-GS18558-1100-36-ASM
var-GS18947-1100-36-ASM
ENG G413Vinsufficiently evaluated pathogenicunknown

(5 web hits)

ENG V504Minsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS000006909
var-GS18502-1100-36-ASM
ENG S615Linsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_E01_200_37
ENGASE A5Einsufficiently evaluated none, f=0.083unknown hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ENGASE E56Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
ENGASE R114Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
ENGASE R124Qinsufficiently evaluated not reviewed, f=0.022unknown CGI sample GS000006909
var-GS06985-1100-36-ASM
ENGASE R321Hinsufficiently evaluated none, f=0.056unknown var-GS18504-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ENGASE K373KKinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_A04 from PGP sample 08188426
ENGASE K373KEKinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
ENGASE T508Iinsufficiently evaluated noneunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ENGASE HS537Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
ENGASE R555Hinsufficiently evaluated not reviewed, f=0.030unknown var-GS18505-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
ENGASE G562Rinsufficiently evaluated not reviewed, f=0.006unknown var-GS18505-1100-36-ASM (hom)
ENGASE S596Ninsufficiently evaluated none, f=0.102unknown CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS18505-1100-36-ASM (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ENGASE Q618Xinsufficiently evaluated none, f=0.000unknown var-GS18517-1100-36-ASM
ENGASE R659Cinsufficiently evaluated not reviewed, f=0.017unknown var-GS20509-1100-36-ASM
ENGASE E731Kinsufficiently evaluated not reviewed, f=0.042unknown

(1 web hit)

var-GS18504-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
Page: 1 2 3
Total results: 25

Gene search

"GENE" or "GENE A123C":

Log in