GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AXIN2 P50Sinsufficiently evaluated none, f=0.389unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
AXIN2 P65Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
AXIN2 E66Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_B02 from PGP sample 94378523
AXIN2 R357Hinsufficiently evaluated not reviewed, f=0.002unknown var-GS19026-1100-36-ASM
AXIN2 N412Sinsufficiently evaluated not reviewed, f=0.005unknown var-GS18504-1100-36-ASM
AXIN2 A417Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
AXIN2 P494Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
AXIN2 P525Ainsufficiently evaluated none, f=0.010unknown var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
AXIN2 V539Minsufficiently evaluated none, f=0.013unknown var-GS18501-1100-36-ASM
var-GS18505-1100-36-ASM
AXIN2 S651Linsufficiently evaluated none, f=0.001unknown

(1 web hit)

AXIN2 R656Xinsufficiently evaluated pathogenicunknown

(9 web hits)

AXIN2 TTPR672Delinsufficiently evaluated not reviewed, f=0.056unknown var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19026-1100-36-ASM
AXIN2 M685Vinsufficiently evaluated not reviewedunknown
AXIN2 L688Xinsufficiently evaluated pathogenicunknown

(7 web hits)

AXIN2 E706Xinsufficiently evaluated pathogenicunknown

(7 web hits)

AXIN2 A758Tinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_A02_200_37
AXIN2 A761Dinsufficiently evaluated not reviewed, f=0.006unknown var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
Page: 1 2
Total results: 17

Gene search

"GENE" or "GENE A123C":

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