GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
EXT2 M42Vinsufficiently evaluated none, f=0.016unknown

(1 web hit)

var-GS19129-1100-36-ASM
EXT2 M55Vinsufficiently evaluated noneunknown

(1 web hit)

EXT2 C96Sinsufficiently evaluated not reviewedunknown

(1 web hit)

EXT2 C109Sinsufficiently evaluated not reviewedunknown
EXT2 T170Iinsufficiently evaluated not reviewed, f=0.000unknown
EXT2 Q172Xinsufficiently evaluated pathogenicunknown

(12 web hits)

EXT2 M174Linsufficiently evaluated not reviewed, f=0.001unknown
EXT2 T183Iinsufficiently evaluated not reviewedunknown
EXT2 M187Linsufficiently evaluated not reviewedunknown
EXT2 Y222Xinsufficiently evaluated pathogenicunknown

(13 web hits)

EXT2 D227Ninsufficiently evaluated pathogenicunknown

(37 web hits)

EXT2 S237Linsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS00253-DNA_G01_200_37
var-GS06985-1100-36-ASM
EXT2 S250Linsufficiently evaluated not reviewedunknown

(11 web hits)

EXT2 H262Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
EXT2 S270Linsufficiently evaluated not reviewedunknown
EXT2 A271Dinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
EXT2 R299Hinsufficiently evaluated noneunknown

(5 web hits)

EXT2 R312Hinsufficiently evaluated noneunknown

(1 web hit)

EXT2 V507Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
EXT2 E530Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
EXT2 H571Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18517-1100-36-ASM
Page: 1 2 3
Total results: 21

Gene search

"GENE" or "GENE A123C":

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