GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GCH1 M1Iinsufficiently evaluated pathogenicunknown

(41 web hits)

GCH1 P23Linsufficiently evaluated not reviewed, f=0.014unknown var-GS10851-1100-36-ASM
GCH1 Q48Xinsufficiently evaluated pathogenicunknown

(10 web hits)

GCH1 R88Winsufficiently evaluated pathogenicunknown

(12 web hits)

GCH1 G108Dinsufficiently evaluated pathogenicunknown

(6 web hits)

GCH1 D134Vinsufficiently evaluated pathogenicunknown

(6 web hits)

GCH1 I135Kinsufficiently evaluated pathogenicunknown

(6 web hits)

GCH1 H144Pinsufficiently evaluated pathogenicunknown

(7 web hits)

GCH1 R184Hinsufficiently evaluated pathogenicunknown

(11 web hits)

GCH1 A196Sinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

GCH1 P199Ainsufficiently evaluated pathogenicunknown

(15 web hits)

GCH1 G201Einsufficiently evaluated pathogenicunknown

(11 web hits)

GCH1 M211Iinsufficiently evaluated pathogenicunknown

(10 web hits)

GCH1 M221Tinsufficiently evaluated pathogenicunknown

(6 web hits)

GCH1 K224Rinsufficiently evaluated pathogenic, f=0.000unknown

(22 web hits)

GCH1 R249Sinsufficiently evaluated pathogenicunknown

(14 web hits)

Page: 1 2
Total results: 16

Gene search

"GENE" or "GENE A123C":

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