GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALDH5A1 C4Ginsufficiently evaluated not reviewed, f=0.002unknown var-GS10851-1100-36-ASM
ALDH5A1 G36Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_A04 from PGP sample 08188426
ALDH5A1 H180Yinsufficiently evaluated not reviewed, f=0.374unknown

(12 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
ALDH5A1 P182Linsufficiently evaluated not reviewed, f=0.026unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
ALDH5A1 W204Xinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

ALDH5A1 A237Sinsufficiently evaluated not reviewed, f=0.013unknown var-GS19735-1100-36-ASM
ALDH5A1 K366Einsufficiently evaluated not reviewedunknown
ALDH5A1 K379Einsufficiently evaluated not reviewedunknown
ALDH5A1 G409Dinsufficiently evaluated pathogenicunknown

(4 web hits)

ALDH5A1 R412Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ALDH5A1 N440Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19704-1100-36-ASM
ALDH5A1 A459Sinsufficiently evaluated noneunknown
ALDH5A1 Y471Sinsufficiently evaluated noneunknown
ALDH5A1 A472Sinsufficiently evaluated noneunknown
ALDH5A1 Q477Linsufficiently evaluated noneunknown
ALDH5A1 Y484Sinsufficiently evaluated none, f=0.000unknown
ALDH5A1 D487Ainsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
ALDH5A1 Q490Linsufficiently evaluated noneunknown
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Total results: 18

Gene search

"GENE" or "GENE A123C":

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