GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MOCS1 R73Winsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

MOCS1 G152Dinsufficiently evaluated not reviewed, f=0.002unknown var-GS19020-1100-36-ASM
var-GS18502-1100-36-ASM
MOCS1 E201Ginsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
MOCS1 A233Vinsufficiently evaluated none, f=0.050unknown var-GS19700-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
MOCS1 L239Hinsufficiently evaluated none, f=0.068unknown

(1 web hit)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_D01_200_37
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
var-GS06985-1100-36-ASM
MOCS1 R272Winsufficiently evaluated not reviewed, f=0.000unknown var-GS18501-1100-36-ASM
MOCS1 E285Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
MOCS1 R319Qinsufficiently evaluated pathogenicunknown

(7 web hits)

MOCS1 R339Winsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
MOCS1 P374Hinsufficiently evaluated noneunknown

(2 web hits)

MOCS1 P390Hinsufficiently evaluated none, f=0.034unknown var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
MOCS1 R423Qinsufficiently evaluated not reviewedunknown
MOCS1 R436Linsufficiently evaluated noneunknown

(3 web hits)

MOCS1 R439Qinsufficiently evaluated not reviewed, f=0.024unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19703-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
MOCS1 R452Linsufficiently evaluated none, f=0.038unknown var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
MOCS1 G499Einsufficiently evaluated not reviewedunknown
MOCS1 G515Einsufficiently evaluated not reviewedunknown
MOCS1 R556Hinsufficiently evaluated noneunknown
MOCS1 R568Winsufficiently evaluated not reviewedunknown
MOCS1 R572Hinsufficiently evaluated none, f=0.017unknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
MOCS1 R584Winsufficiently evaluated not reviewed, f=0.000unknown
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Total results: 21

Gene search

"GENE" or "GENE A123C":

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