GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CEP152 L51Finsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_D01_200_37
CEP152 S54Linsufficiently evaluated not reviewed, f=0.008unknown hu34D5B9 exome
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
CEP152 R115Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CEP152 S793Iinsufficiently evaluated none, f=0.001unknown var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18956-1100-36-ASM
CEP152 L914Vinsufficiently evaluated none, f=0.057unknown var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_A02_200_37
var-GS19669-1100-36-ASM
CEP152 Q935Rinsufficiently evaluated noneunknown
CEP152 C1093Yinsufficiently evaluated none, f=0.006unknown var-GS19704-1100-36-ASM
var-GS19129-1100-36-ASM
CEP152 V1106Ainsufficiently evaluated not reviewed, f=0.032unknown

(3 web hits)

var-GS19020-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
CEP152 A1109Pinsufficiently evaluated not reviewed, f=0.003unknown var-GS19700-1100-36-ASM
CEP152 L1182Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19834-1100-36-ASM
CEP152 S1303Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19834-1100-36-ASM
CEP152 V1404Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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