GET-Evidence: Search

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VariantImpactInheritance patternSummaryGenomes
ENAM K53Xinsufficiently evaluated pathogenicunknown
ENAM Y322Dinsufficiently evaluated not reviewedunknown
ENAM G358Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
ENAM H380Rinsufficiently evaluated not reviewedunknown
ENAM G389Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
ENAM P419Linsufficiently evaluated not reviewedunknown

(1 web hit)

ENAM V466Iinsufficiently evaluated not reviewed, f=0.002unknown var-GS20502-1100-36-ASM
ENAM F576Linsufficiently evaluated none, f=0.043unknown

(4 web hits)

hu34D5B9 exome
var-GS19701-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
ENAM I648Tinsufficiently evaluated none, f=0.180unknown var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
ENAM P724Linsufficiently evaluated not reviewed, f=0.012unknown

(8 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
ENAM R763Qinsufficiently evaluated none, f=0.138unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
ENAM R843Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
ENAM G872Vinsufficiently evaluated not reviewedunknown
ENAM N885Sinsufficiently evaluated not reviewedunknown
ENAM R946Tinsufficiently evaluated not reviewed, f=0.005unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
ENAM S1107Ninsufficiently evaluated none, f=0.008unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS00253-DNA_C01_200_37
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Total results: 16

Gene search

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