GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC17A5 A29Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
SLC17A5 R39Cinsufficiently evaluated pathogenic, f=0.000unknown

(78 web hits)

SLC17A5 Y119Xinsufficiently evaluated not reviewed, f=0.188unknown
SLC17A5 K136Einsufficiently evaluated pathogenicunknown

(61 web hits)

SLC17A5 H183Rinsufficiently evaluated pathogenicunknown

(6 web hits)

SLC17A5 V296Iinsufficiently evaluated none, f=0.006unknown

(1 web hit)

var-GS18504-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18956-1100-36-ASM
SLC17A5 P334Rinsufficiently evaluated pathogenicunknown

(4 web hits)

SLC17A5 V442Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS20509-1100-36-ASM
SLC17A5 R494Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
Total results: 9

Gene search

"GENE" or "GENE A123C":

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