GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TK2 K30Rinsufficiently evaluated none, f=0.237unknown

(8 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)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TK2 P33Ainsufficiently evaluated not reviewed, f=0.034unknown

(5 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19735-1100-36-ASM (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS18555-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
TK2 R74Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TK2 I95Minsufficiently evaluated pathogenicunknown

(4 web hits)

TK2 T150Minsufficiently evaluated pathogenicunknown

(4 web hits)

TK2 H163Ninsufficiently evaluated pathogenicunknown

(1 web hit)

TK2 I254Ninsufficiently evaluated pathogenicunknown

(6 web hits)

Total results: 7

Gene search

"GENE" or "GENE A123C":

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