GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BBS10 D142Ninsufficiently evaluated not reviewedunknown hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
BBS10 Q147Rinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_H01_200_37
BBS10 P539Linsufficiently evaluated not reviewed, f=0.054unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM
BBS10 N544Sinsufficiently evaluated not reviewed, f=0.007unknown var-GS19020-1100-36-ASM
BBS10 L562Iinsufficiently evaluated not reviewedunknown
BBS10 K579Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
BBS10 A636Vinsufficiently evaluated not reviewedunknown
Total results: 7

Gene search

"GENE" or "GENE A123C":

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