GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ARSE R12Sinsufficiently evaluated pathogenicunknown

(90 web hits)

ARSE A35Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS18508-1100-36-ASM
ARSE I53Vinsufficiently evaluated not reviewed, f=0.037unknown

(1 web hit)

var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
ARSE R111Pinsufficiently evaluated pathogenicunknown

(2 web hits)

ARSE G117Rinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSE G137Vinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSE R183Hinsufficiently evaluated not reviewed, f=0.016unknown var-GS19238-1100-36-ASM
ARSE G245Rinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSE G424Sinsufficiently evaluated none, f=0.490unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
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 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
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)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (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 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ARSE C492Yinsufficiently evaluated pathogenicunknown

(3 web hits)

ARSE P578Sinsufficiently evaluated pathogenicunknown

(8 web hits)

ARSE W581Xinsufficiently evaluated pathogenicunknown

(6 web hits)

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Total results: 12

Gene search

"GENE" or "GENE A123C":

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