GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HESX1 Q6Hinsufficiently evaluated pathogenicunknown

(19 web hits)

HESX1 S22Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
HESX1 I26Tinsufficiently evaluated pathogenicunknown

(115 web hits)

HESX1 N125Sinsufficiently evaluated none, f=0.076unknown

(14 web hits)

var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
HESX1 E149Kinsufficiently evaluated pathogenicunknown

(18 web hits)

HESX1 R160Cinsufficiently evaluated pathogenicunknown

(110 web hits)

HESX1 S170Linsufficiently evaluated pathogenic, f=0.000unknown

(39 web hits)

HESX1 T181Ainsufficiently evaluated pathogenic, f=0.000unknown

(26 web hits)

Total results: 8

Gene search

"GENE" or "GENE A123C":

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