GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
C2ORF71 S13Cinsufficiently evaluated none, f=0.054unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19701-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM
C2ORF71 R29Winsufficiently evaluated noneunknown
C2ORF71 P62Ainsufficiently evaluated none, f=0.002unknown var-GS19700-1100-36-ASM
var-GS18517-1100-36-ASM
C2ORF71 E227Kinsufficiently evaluated not reviewed, f=0.031unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18508-1100-36-ASM
C2ORF71 V247Ainsufficiently evaluated not reviewed, f=0.010unknown var-GS18502-1100-36-ASM
C2ORF71 A252Dinsufficiently evaluated none, f=0.018unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19701-1100-36-ASM
var-GS19129-1100-36-ASM
C2ORF71 R258Iinsufficiently evaluated not reviewed, f=0.010unknown var-GS18502-1100-36-ASM
C2ORF71 K421Rinsufficiently evaluated not reviewed, f=0.042unknown

(1 web hit)

var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS20502-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-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 (hom)
C2ORF71 P433Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
C2ORF71 R528Cinsufficiently evaluated not reviewed, f=0.016unknown var-GS18940-1100-36-ASM (hom)
C2ORF71 S534Iinsufficiently evaluated not reviewed, f=0.001unknown
C2ORF71 T580Minsufficiently evaluated none, f=0.155unknown var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
C2ORF71 E611Dinsufficiently evaluated not reviewedunknown
C2ORF71 V615Dinsufficiently evaluated not reviewed, f=0.014unknown var-GS19026-1100-36-ASM
C2ORF71 A648Tinsufficiently evaluated not reviewed, f=0.009unknown var-GS06985-1100-36-ASM
C2ORF71 C688Yinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
C2ORF71 K732Rinsufficiently evaluated not reviewedunknown
C2ORF71 I783Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS19026-1100-36-ASM
C2ORF71 L792Vinsufficiently evaluated none, f=0.172unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
C2ORF71 P989Hinsufficiently evaluated not reviewedunknown
C2ORF71 Q1020Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
C2ORF71 P1060Tinsufficiently evaluated none, f=0.002unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
C2ORF71 S1085Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
C2ORF71 P1089Delinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS00253-DNA_B02_200_37
C2ORF71 E1132Ainsufficiently evaluated none, f=0.002unknown var-GS19129-1100-36-ASM
C2ORF71 S1225SSinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
C2ORF71 S1241Finsufficiently evaluated noneunknown
C2ORF71 G1247Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
C2ORF71 P1254Linsufficiently evaluated none, f=0.005unknown

(1 web hit)

var-GS19700-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
Page: 1 2 3
Total results: 29

Gene search

"GENE" or "GENE A123C":

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