GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BCAM D5Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
BCAM P39Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
BCAM R77Hinsufficiently evaluated none, f=0.030unknown

(6 web hits)

var-GS19025-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
BCAM H77Rinsufficiently evaluated pathogenicunknown
BCAM R121Xinsufficiently evaluated pathogenicunknown

(1 web hit)

BCAM V196Iinsufficiently evaluated none, f=0.023unknown CGI sample GS00253-DNA_C01_200_37
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
BCAM M204Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_B04 from PGP sample 88590671
BCAM R231Xinsufficiently evaluated pathogenicunknown

(1 web hit)

BCAM C237Xinsufficiently evaluated pathogenicunknown

(2 web hits)

BCAM L243Minsufficiently evaluated not reviewed, f=0.001unknown
BCAM S275Finsufficiently evaluated not reviewed, f=0.002unknown

(5 web hits)

CGI sample GS00253-DNA_D01_200_37
BCAM R282Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
BCAM R292Qinsufficiently evaluated not reviewedunknown hu34D5B9 exome
BCAM V381Iinsufficiently evaluated not reviewed, f=0.019unknown var-GS18502-1100-36-ASM
var-GS19026-1100-36-ASM
BCAM P392Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
BCAM L394Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
BCAM S447Linsufficiently evaluated not reviewed, f=0.021unknown var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
BCAM T539Ainsufficiently evaluated benign, f=0.329unknown

Auberger blood group polymorphism

(7 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
BCAM Q581Linsufficiently evaluated not reviewed, f=0.025unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS20502-1100-36-ASM
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
BCAM P589Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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