GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FUCA1 R2Winsufficiently evaluated none, f=0.081unknown hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19834-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
FUCA1 A3Pinsufficiently evaluated not reviewed, f=0.002unknown var-GS06985-1100-36-ASM
FUCA1 P10Rinsufficiently evaluated none, f=0.067unknown

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19834-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
FUCA1 Q77Xinsufficiently evaluated pathogenicunknown

(7 web hits)

FUCA1 L134Finsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
FUCA1 P146Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
FUCA1 Y211Xinsufficiently evaluated pathogenicunknown

(7 web hits)

FUCA1 Q281Rinsufficiently evaluated pathogenicunknown

(9 web hits)

FUCA1 Q286Rinsufficiently evaluated none, f=0.264unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
hu232307 build 36 substitution variants
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 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
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
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FUCA1 Q351Xinsufficiently evaluated pathogenicunknown

(9 web hits)

FUCA1 E375Xinsufficiently evaluated pathogenicunknown

(4 web hits)

FUCA1 W382Xinsufficiently evaluated pathogenicunknown

(7 web hits)

FUCA1 L405Rinsufficiently evaluated pathogenicunknown

(6 web hits)

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Total results: 13

Gene search

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