GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALG3 I59Vinsufficiently evaluated not reviewedunknown
ALG3 W71Rinsufficiently evaluated pathogenicunknown

(1 web hit)

ALG3 I107Vinsufficiently evaluated not reviewed, f=0.014unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
ALG3 G118Dinsufficiently evaluated pathogenicunknown

(3 web hits)

ALG3 M157Kinsufficiently evaluated pathogenicunknown

(1 web hit)

ALG3 R171Qinsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

ALG3 F200Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
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
ALG3 F200Sinsufficiently evaluated not reviewed, f=0.025unknown var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18505-1100-36-ASM
var-GS18940-1100-36-ASM
ALG3 D322Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
ALG3 P376Linsufficiently evaluated noneunknown
ALG3 W379Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
ALG3 P424Linsufficiently evaluated noneunknown
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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