GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
EP300 M154Tinsufficiently evaluated not reviewedunknown
EP300 G211Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
EP300 M289Vinsufficiently evaluated not reviewed, f=0.002unknown var-GS12004-1100-36-ASM
EP300 R580Xinsufficiently evaluated pathogenicunknown

(2 web hits)

EP300 R648Xinsufficiently evaluated pathogenicunknown

(8 web hits)

EP300 I725Vinsufficiently evaluated noneunknown
EP300 D908Shiftinsufficiently evaluated not reviewed, f=0.013unknown var-GS19735-1100-36-ASM
EP300 S916Tinsufficiently evaluated not reviewed, f=0.011unknown var-GS19017-1100-36-ASM
EP300 I997Vinsufficiently evaluated none, f=0.207unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
var-GS07357-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19648-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS06985-1100-36-ASM
EP300 F1448Linsufficiently evaluated not reviewedunknown
EP300 D1539Einsufficiently evaluated not reviewedunknown
EP300 P1910Ainsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A02_200_37
EP300 P2221Qinsufficiently evaluated pathogenicunknown
EP300 Q2222Rinsufficiently evaluated not reviewedunknown
EP300 Q2223Pinsufficiently evaluated not reviewed, f=0.027unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19648-1100-36-ASM
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Total results: 15

Gene search

"GENE" or "GENE A123C":

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