GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CPT1A Q100Xinsufficiently evaluated pathogenicunknown

(14 web hits)

CPT1A T101Minsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM (hom)
CPT1A V104Minsufficiently evaluated not reviewed, f=0.000unknown
CPT1A Y261Finsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
CPT1A A275Pinsufficiently evaluated not reviewedunknown
CPT1A A275Tinsufficiently evaluated none, f=0.055unknown

(25 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CPT1A V335Iinsufficiently evaluated not reviewed, f=0.000unknown
CPT1A E360Ginsufficiently evaluated pathogenicunknown

(3 web hits)

CPT1A A414Vinsufficiently evaluated pathogenicunknown

(17 web hits)

CPT1A D454Ginsufficiently evaluated pathogenicunknown

(7 web hits)

CPT1A P479Linsufficiently evaluated not reviewed, f=0.000unknown

(30 web hits)

CPT1A Y498Cinsufficiently evaluated pathogenicunknown

(28 web hits)

CPT1A G709Einsufficiently evaluated pathogenicunknown

(16 web hits)

CPT1A G710Einsufficiently evaluated pathogenicunknown

(23 web hits)

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Total results: 14

Gene search

"GENE" or "GENE A123C":

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