GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PKP1 R116Hinsufficiently evaluated not reviewed, f=0.027unknown var-GS19703-1100-36-ASM (hom)
PKP1 A140Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS21767-1100-36-ASM
var-GS18508-1100-36-ASM
PKP1 C161Yinsufficiently evaluated not reviewed, f=0.021unknown var-GS18501-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS18505-1100-36-ASM
PKP1 I196Vinsufficiently evaluated none, f=0.118unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS000006909
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
PKP1 R202Hinsufficiently evaluated none, f=0.002unknown
PKP1 K260Ninsufficiently evaluated not reviewedunknown

(3 web hits)

PKP1 Q304Xinsufficiently evaluated pathogenicunknown
PKP1 G309Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
PKP1 G415Dinsufficiently evaluated none, f=0.133unknown var-GS18942-1100-36-ASM
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS21767-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
PKP1 A442Vinsufficiently evaluated none, f=0.006unknown

(3 web hits)

PKP1 R445Cinsufficiently evaluated none, f=0.002unknown
PKP1 C446Rinsufficiently evaluated none, f=0.005unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_B02_200_37
PKP1 A463Vinsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
PKP1 R466Cinsufficiently evaluated noneunknown
PKP1 C467Rinsufficiently evaluated none, f=0.008unknown
PKP1 R684Winsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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