GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LEPRE1 A47Sinsufficiently evaluated none, f=0.044unknown hu728FFF build 36 substitution variants (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
LEPRE1 P204Hinsufficiently evaluated none, f=0.007unknown var-GS19129-1100-36-ASM
LEPRE1 R243Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM
LEPRE1 G349Rinsufficiently evaluated not reviewed, f=0.065unknown

(5 web hits)

var-GS19025-1100-36-ASM
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
hu728FFF build 36 substitution variants
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LEPRE1 R368Xinsufficiently evaluated pathogenicunknown
LEPRE1 D441Vinsufficiently evaluated not reviewedunknown
LEPRE1 M549Iinsufficiently evaluated none, f=0.063unknown

(1 web hit)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18501-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS20509-1100-36-ASM
LEPRE1 Y552Xinsufficiently evaluated pathogenicunknown
LEPRE1 Q644Kinsufficiently evaluated none, f=0.000unknown

(1 web hit)

LEPRE1 A691Vinsufficiently evaluated noneunknown

(1 web hit)

Total results: 10

Gene search

"GENE" or "GENE A123C":

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