GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALG8 T47Pinsufficiently evaluated pathogenicunknown

(5 web hits)

ALG8 T64Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
ALG8 I128Vinsufficiently evaluated not reviewedunknown
ALG8 N222Sinsufficiently evaluated not reviewed, f=0.172unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
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
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
ALG8 R268Qinsufficiently evaluated not reviewed, f=0.017unknown var-GS10851-1100-36-ASM
ALG8 G275Dinsufficiently evaluated pathogenicunknown
ALG8 I439Tinsufficiently evaluated not reviewed, f=0.026unknown var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19648-1100-36-ASM
var-GS06994-1100-36-ASM
ALG8 K451Rinsufficiently evaluated not reviewedunknown
Total results: 8

Gene search

"GENE" or "GENE A123C":

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