GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HSD17B3 V31Iinsufficiently evaluated none, f=0.008unknown

(1 web hit)

CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18956-1100-36-ASM
HSD17B3 R45Winsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
HSD17B3 G55Einsufficiently evaluated noneunknown
HSD17B3 A56Tinsufficiently evaluated pathogenicunknown

(12 web hits)

HSD17B3 R80Qinsufficiently evaluated pathogenic, f=0.000unknown

(30 web hits)

HSD17B3 R80Winsufficiently evaluated pathogenicunknown

(24 web hits)

HSD17B3 I102Finsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
HSD17B3 N130Sinsufficiently evaluated pathogenicunknown

(13 web hits)

HSD17B3 A203Vinsufficiently evaluated pathogenicunknown

(5 web hits)

HSD17B3 S232Linsufficiently evaluated pathogenic, f=0.000unknown

(7 web hits)

HSD17B3 M235Vinsufficiently evaluated pathogenicunknown

(1 web hit)

HSD17B3 L256Finsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
HSD17B3 C268Yinsufficiently evaluated pathogenicunknown

(41 web hits)

HSD17B3 G289Sinsufficiently evaluated none, f=0.070unknown

(44 web hits)

var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19026-1100-36-ASM
Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

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