GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CLCNKA R8Hinsufficiently evaluated not reviewed, f=0.015unknown var-GS06985-1100-36-ASM
CLCNKA P24Hinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
CLCNKA C80Winsufficiently evaluated pathogenicunknown

(1 web hit)

CLCNKA R83Ginsufficiently evaluated not reviewed, f=0.600unknown

(31 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-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 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
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 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
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-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CLCNKA V104Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS18504-1100-36-ASM
CLCNKA Q260Xinsufficiently evaluated pathogenicunknown

(10 web hits)

CLCNKA T264Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
CLCNKA Y315Finsufficiently evaluated none, f=0.187unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19020-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CLCNKA L334Vinsufficiently evaluated none, f=0.020unknown var-GS07357-1100-36-ASM
CLCNKA H357Qinsufficiently evaluated none, f=0.055unknown

(1 web hit)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18505-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CLCNKA A447Tinsufficiently evaluated none, f=0.599unknown

(26 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-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 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
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 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
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 (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CLCNKA T454Ainsufficiently evaluated not reviewed, f=0.076unknown

(8 web hits)

CGI sample GS00253-DNA_E01_200_37
var-GS19020-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CLCNKA V457Iinsufficiently evaluated not reviewed, f=0.041unknown CGI sample GS00253-DNA_E01_200_37
var-GS19020-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CLCNKA Y466Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CLCNKA R534Winsufficiently evaluated none, f=0.090unknown

(9 web hits)

var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CLCNKA H544Rinsufficiently evaluated not reviewedunknown
CLCNKA T556Ainsufficiently evaluated noneunknown
CLCNKA Q601Xinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
CLCNKA P612Ainsufficiently evaluated not reviewedunknown
CLCNKA P682Linsufficiently evaluated noneunknown

(4 web hits)

CLCNKA P683Linsufficiently evaluated none, f=0.100unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37 (hom)
var-GS19020-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
Page: 1 2 3
Total results: 21

Gene search

"GENE" or "GENE A123C":

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