GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
POR V164Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
POR Y178Dinsufficiently evaluated pathogenicunknown

(12 web hits)

POR A284Pinsufficiently evaluated pathogenicunknown

(26 web hits)

POR A287Pinsufficiently evaluated pathogenic, f=0.000unknown

(108 web hits)

POR H322Qinsufficiently evaluated not reviewedunknown

(1 web hit)

POR G338Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
POR R457Hinsufficiently evaluated pathogenicunknown

(116 web hits)

POR V492Einsufficiently evaluated pathogenicunknown

(62 web hits)

POR A503Vinsufficiently evaluated pharmacogenetic, f=0.234unknown

(77 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS12004-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
POR G539Rinsufficiently evaluated pathogenicunknown

(46 web hits)

POR Q556Hinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37
POR C566Yinsufficiently evaluated pathogenicunknown

(8 web hits)

POR C569Yinsufficiently evaluated pathogenicunknown

(32 web hits)

POR Y578Cinsufficiently evaluated pathogenicunknown

(24 web hits)

POR V608Finsufficiently evaluated pathogenicunknown

(30 web hits)

PORCN W74Xinsufficiently evaluated pathogenicunknown
PORCN R124Xinsufficiently evaluated pathogenicunknown
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Total results: 17

Gene search

"GENE" or "GENE A123C":

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