GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CDKL5 A40Vinsufficiently evaluated pathogenicunknown

(2 web hits)

CDKL5 I72Tinsufficiently evaluated pathogenicunknown

(1 web hit)

CDKL5 C152Finsufficiently evaluated pathogenicunknown

(17 web hits)

CDKL5 R175Sinsufficiently evaluated pathogenicunknown

(20 web hits)

CDKL5 G456Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CDKL5 T484Iinsufficiently evaluated not reviewedunknown
CDKL5 Q791Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
hu34D5B9 exome (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CDKL5 Q834Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CDKL5 V999Minsufficiently evaluated none, f=0.037unknown

(2 web hits)

var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
Total results: 9

Gene search

"GENE" or "GENE A123C":

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