GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ACAT1 M1Kinsufficiently evaluated pathogenicunknown
ACAT1 A5Pinsufficiently evaluated none, f=0.209unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM
ACAT1 N93Sinsufficiently evaluated pathogenicunknown

(17 web hits)

ACAT1 Q145Einsufficiently evaluated pathogenicunknown
ACAT1 G150Rinsufficiently evaluated pathogenicunknown
ACAT1 Q272Xinsufficiently evaluated pathogenicunknown

(3 web hits)

ACAT1 A281Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
ACAT1 I312Tinsufficiently evaluated pathogenicunknown

(17 web hits)

ACAT1 A333Pinsufficiently evaluated pathogenicunknown

(18 web hits)

ACAT1 A347Tinsufficiently evaluated pathogenicunknown

(1 web hit)

ACAT1 G379Vinsufficiently evaluated pathogenicunknown

(4 web hits)

Page: 1 2
Total results: 11

Gene search

"GENE" or "GENE A123C":

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