GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DSC2 N11Sinsufficiently evaluated not reviewed, f=0.040unknown var-GS18501-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
DSC2 Q287Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
DSC2 R357Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
DSC2 M589Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS12004-1100-36-ASM
DSC2 I776Vinsufficiently evaluated none, f=0.192unknown 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
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
DSC2 R798Qinsufficiently evaluated not reviewed, f=0.033unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DSC2 S864Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
Total results: 7

Gene search

"GENE" or "GENE A123C":

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