GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HADHA R27Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM
HADHA L130Iinsufficiently evaluated noneunknown
HADHA Y158Xinsufficiently evaluated not reviewedunknown
HADHA V218Linsufficiently evaluated none, f=0.000unknown
HADHA V246Dinsufficiently evaluated pathogenicunknown

(3 web hits)

HADHA R255Xinsufficiently evaluated pathogenicunknown
HADHA I269Ninsufficiently evaluated pathogenicunknown

(3 web hits)

HADHA Q342Xinsufficiently evaluated pathogenicunknown

(1 web hit)

HADHA L342Pinsufficiently evaluated pathogenicunknown

(1 web hit)

HADHA Q358Kinsufficiently evaluated none, f=0.023unknown

(1 web hit)

var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
HADHA E474Qinsufficiently evaluated pathogenicunknown

(41 web hits)

HADHA R524Xinsufficiently evaluated pathogenicunknown

(1 web hit)

Page: 1 2
Total results: 12

Gene search

"GENE" or "GENE A123C":

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