GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CPOX Q29Xinsufficiently evaluated pathogenicunknown
CPOX M131Vinsufficiently evaluated not reviewedunknown CGI sample GS000006909
CPOX T159Ainsufficiently evaluated not reviewedunknown
CPOX S208Finsufficiently evaluated pathogenicunknown

(6 web hits)

CPOX N272Hinsufficiently evaluated none, f=0.241unknown

(18 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CPOX G279Rinsufficiently evaluated pathogenicunknown

(1 web hit)

CPOX V294Iinsufficiently evaluated none, f=0.070unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532
var-GS10851-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CPOX H295Dinsufficiently evaluated pathogenicunknown
CPOX R328Cinsufficiently evaluated pathogenicunknown

(4 web hits)

CPOX R331Winsufficiently evaluated pathogenicunknown

(9 web hits)

CPOX R352Cinsufficiently evaluated none, f=0.047unknown

(6 web hits)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
CPOX K404Einsufficiently evaluated pathogenic, f=0.000unknown

(16 web hits)

CPOX R426Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
CPOX R447Cinsufficiently evaluated pathogenicunknown

(3 web hits)

Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

Log in