GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALG6 Y131Hinsufficiently evaluated not reviewed, f=0.028unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ALG6 K226Ninsufficiently evaluated not reviewed, f=0.023unknown var-GS18504-1100-36-ASM
var-GS18505-1100-36-ASM
ALG6 L244Pinsufficiently evaluated not reviewedunknown
ALG6 T251Ainsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
ALG6 S304Finsufficiently evaluated not reviewed, f=0.825unknown

(21 web hits)

var-GS19025-1100-36-ASM (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS20502-1100-36-ASM (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
ALG6 S306Finsufficiently evaluated not reviewed, f=0.738unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
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 GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
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)
CGI sample GS00253-DNA_H01_200_37 (hom)
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_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ALG6 A333Vinsufficiently evaluated pathogenicunknown

(29 web hits)

ALG6 L455Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01669-DNA_B03 from PGP sample 14427241
ALG6 S478Pinsufficiently evaluated pathogenicunknown

(8 web hits)

Total results: 9

Gene search

"GENE" or "GENE A123C":

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