GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ACOX1 R6Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
ACOX1 G25Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
ACOX1 P27Linsufficiently evaluated not reviewed, f=0.007unknown var-GS18501-1100-36-ASM
var-GS18508-1100-36-ASM
ACOX1 G101Sinsufficiently evaluated none, f=0.078unknown var-GS07357-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
ACOX1 R148Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ACOX1 G178Cinsufficiently evaluated pathogenicunknown

(1 web hit)

ACOX1 L273Pinsufficiently evaluated not reviewedunknown
ACOX1 I274Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
ACOX1 M278Vinsufficiently evaluated pathogenicunknown

(1 web hit)

ACOX1 Q309Rinsufficiently evaluated pathogenicunknown

(1 web hit)

ACOX1 I312Minsufficiently evaluated none, f=0.505unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ACOX1 S511Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
ACOX1 R591Cinsufficiently evaluated none, f=0.010unknown

(2 web hits)

var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
Page: 1 2
Total results: 13

Gene search

"GENE" or "GENE A123C":

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