GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ESCO2 A80Vinsufficiently evaluated none, f=0.099unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
ESCO2 T83Ainsufficiently evaluated not reviewedunknown
ESCO2 D116Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS19017-1100-36-ASM
ESCO2 R169Xinsufficiently evaluated pathogenic, f=0.000unknown

(2 web hits)

ESCO2 Q202Xinsufficiently evaluated pathogenicunknown

(6 web hits)

ESCO2 A209Sinsufficiently evaluated not reviewedunknown
ESCO2 T248Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ESCO2 L274Vinsufficiently evaluated not reviewed, f=0.004unknown
ESCO2 Q359Pinsufficiently evaluated none, f=0.003unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
ESCO2 W423Xinsufficiently evaluated pathogenicunknown

(4 web hits)

ESCO2 I449Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
ESCO2 I508Vinsufficiently evaluated not reviewed, f=0.015unknown var-GS19020-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
ESCO2 W539Ginsufficiently evaluated pathogenicunknown

(19 web hits)

ESCO2 P579Tinsufficiently evaluated not reviewed, f=0.005unknown var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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