GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COLQ S169Xinsufficiently evaluated pathogenicunknown

(3 web hits)

COLQ K204Rinsufficiently evaluated noneunknown
COLQ E214Xinsufficiently evaluated pathogenicunknown

(4 web hits)

COLQ K228Rinsufficiently evaluated noneunknown
COLQ K229Rinsufficiently evaluated noneunknown
COLQ K238Rinsufficiently evaluated noneunknown

(1 web hit)

COLQ G240Xinsufficiently evaluated pathogenicunknown

(44 web hits)

COLQ S245Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
COLQ S278Ginsufficiently evaluated noneunknown
COLQ R282Xinsufficiently evaluated pathogenicunknown

(3 web hits)

COLQ Q300Einsufficiently evaluated not reviewedunknown
COLQ S302Ginsufficiently evaluated noneunknown
COLQ S303Ginsufficiently evaluated noneunknown
COLQ S312Ginsufficiently evaluated none, f=0.057unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
var-GS19025-1100-36-ASM
hu34D5B9 exome
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
COLQ R315Xinsufficiently evaluated pathogenicunknown

(14 web hits)

COLQ Q324Einsufficiently evaluated not reviewedunknown
COLQ Q325Einsufficiently evaluated not reviewedunknown
COLQ Q334Einsufficiently evaluated not reviewedunknown
COLQ Y431Sinsufficiently evaluated pathogenicunknown

(18 web hits)

Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

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