GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC22A5 M1Iinsufficiently evaluated pathogenicunknown

(9 web hits)

SLC22A5 W132Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SLC22A5 L144Finsufficiently evaluated none, f=0.028unknown

(6 web hits)

var-GS19025-1100-36-ASM
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
SLC22A5 R169Qinsufficiently evaluated pathogenicunknown

(8 web hits)

SLC22A5 R169Winsufficiently evaluated pathogenicunknown

(13 web hits)

SLC22A5 L202Pinsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
SLC22A5 Y211Cinsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

SLC22A5 T232Minsufficiently evaluated not reviewed, f=0.000unknown var-GS19238-1100-36-ASM
SLC22A5 R254Xinsufficiently evaluated pathogenicunknown

(20 web hits)

SLC22A5 R282Xinsufficiently evaluated pathogenic, f=0.000unknown

(7 web hits)

SLC22A5 W351Rinsufficiently evaluated pathogenicunknown

(7 web hits)

SLC22A5 R399Qinsufficiently evaluated pathogenicunknown

(10 web hits)

SLC22A5 Y401Xinsufficiently evaluated pathogenicunknown

(7 web hits)

SLC22A5 P478Linsufficiently evaluated pathogenicunknown

(11 web hits)

SLC22A5 P549Sinsufficiently evaluated not reviewed, f=0.023unknown var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

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