GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LOXHD1 M1Kinsufficiently evaluated none, f=0.031unknown 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
CGI sample GS01175-DNA_A04 from PGP sample 13272228
LOXHD1 R44Ginsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
LOXHD1 R65Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
LOXHD1 V85Iinsufficiently evaluated not reviewed, f=0.062unknown var-GS19834-1100-36-ASM
LOXHD1 A125Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
LOXHD1 R153Cinsufficiently evaluated not reviewed, f=0.002unknown
LOXHD1 T188Minsufficiently evaluated not reviewedunknown
LOXHD1 I194Finsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
LOXHD1 C233Finsufficiently evaluated not reviewedunknown
LOXHD1 R246Cinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
LOXHD1 T272Minsufficiently evaluated not reviewedunknown

(2 web hits)

LOXHD1 V303Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
LOXHD1 A337Vinsufficiently evaluated noneunknown
LOXHD1 G348Cinsufficiently evaluated not reviewed, f=0.016unknown var-GS18508-1100-36-ASM
LOXHD1 G354Cinsufficiently evaluated not reviewed, f=0.016unknown var-GS18508-1100-36-ASM
LOXHD1 V363Iinsufficiently evaluated none, f=0.076unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LOXHD1 D398Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
LOXHD1 D416Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
LOXHD1 R434Hinsufficiently evaluated noneunknown
LOXHD1 N508Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
LOXHD1 E512Ginsufficiently evaluated noneunknown
LOXHD1 R547Cinsufficiently evaluated not reviewedunknown
LOXHD1 V547Minsufficiently evaluated not reviewed, f=0.094unknown var-GS19020-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18517-1100-36-ASM
LOXHD1 G626Cinsufficiently evaluated none, f=0.015unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
LOXHD1 G632Cinsufficiently evaluated none, f=0.015unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
LOXHD1 R670Xinsufficiently evaluated pathogenicunknown
LOXHD1 D676Ginsufficiently evaluated not reviewed, f=0.005unknown

(2 web hits)

LOXHD1 E694Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
LOXHD1 R812Qinsufficiently evaluated not reviewed, f=0.031unknown var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
LOXHD1 V825Minsufficiently evaluated none, f=0.099unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_B02 from PGP sample 94378523
LOXHD1 R877Ginsufficiently evaluated not reviewed, f=0.733unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS10851-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
LOXHD1 E951Kinsufficiently evaluated noneunknown
LOXHD1 A987Vinsufficiently evaluated noneunknown
LOXHD1 C1066Finsufficiently evaluated not reviewed, f=0.016unknown
LOXHD1 R1084Hinsufficiently evaluated noneunknown
LOXHD1 R1090Qinsufficiently evaluated not reviewed, f=0.017unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
LOXHD1 T1105Minsufficiently evaluated not reviewed, f=0.016unknown var-GS19017-1100-36-ASM
var-GS18505-1100-36-ASM
LOXHD1 R1155Ginsufficiently evaluated none, f=0.792unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
LOXHD1 T1299Minsufficiently evaluated not reviewedunknown
LOXHD1 V1330Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
LOXHD1 C1344Finsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37
LOXHD1 E1345Ginsufficiently evaluated not reviewed, f=0.070unknown var-GS18558-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
LOXHD1 T1383Minsufficiently evaluated not reviewed, f=0.015unknown

(1 web hit)

LOXHD1 T1480Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
LOXHD1 M1482Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
LOXHD1 E1623Ginsufficiently evaluated none, f=0.091unknown CGI sample GS00253-DNA_E01_200_37
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS000005532
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LOXHD1 N1872Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
LOXHD1 A2036Vinsufficiently evaluated none, f=0.301unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LOXHD1 G2118Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
LOXHD1 R2133Hinsufficiently evaluated none, f=0.063unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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Total results: 50

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