GET-Evidence: Search

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VariantImpactInheritance patternSummaryGenomes
DMPK P62Rinsufficiently evaluated not reviewedunknown
DMPK G380Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
DMPK L418Vinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
DMPK L423Vinsufficiently evaluated not reviewed, f=0.095unknown

(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_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM
DMPK L433Vinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
DMPK A455Tinsufficiently evaluated not reviewedunknown
DMPK A460Tinsufficiently evaluated not reviewedunknown
DMPK A470Tinsufficiently evaluated not reviewedunknown
DMPK R488Cinsufficiently evaluated noneunknown
DMPK R493Cinsufficiently evaluated none, f=0.001unknown
DMPK R503Cinsufficiently evaluated noneunknown
DMPK T539Minsufficiently evaluated noneunknown
DMPK T544Minsufficiently evaluated none, f=0.010unknown
DMPK T554Minsufficiently evaluated noneunknown
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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