GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TKT D72Einsufficiently evaluated not reviewedunknown

(29 web hits)

TKT D155Einsufficiently evaluated not reviewedunknown

(9 web hits)

TKTL1 H112Qinsufficiently evaluated noneunknown
TKTL1 H162Qinsufficiently evaluated noneunknown
TKTL1 H168Qinsufficiently evaluated none, f=0.011unknown var-GS18555-1100-36-ASM
TKTL1 R261Kinsufficiently evaluated not reviewedunknown
TKTL1 R311Kinsufficiently evaluated not reviewedunknown
TKTL1 R317Kinsufficiently evaluated not reviewed, f=0.001unknown
TKTL2 E47Kinsufficiently evaluated not reviewed, f=0.000unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
TKTL2 D63Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
TKTL2 G91Rinsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

TKTL2 G189Vinsufficiently evaluated not reviewed, f=0.002unknown
TKTL2 A209Tinsufficiently evaluated not reviewed, f=0.003unknown var-GS21767-1100-36-ASM
TKTL2 F351Sinsufficiently evaluated none, f=0.011unknown var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
TKTL2 A575Dinsufficiently evaluated none, f=0.000unknown
TKTL2 Q590Hinsufficiently evaluated none, f=0.177unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000006909
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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