GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
IFT80 H105Qinsufficiently evaluated pathogenicunknown
IFT80 A315Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
IFT80 S357Finsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19669-1100-36-ASM
IFT80 I437Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
IFT80 T449Sinsufficiently evaluated not reviewedunknown
IFT80 T584Sinsufficiently evaluated not reviewed, f=0.327unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
IFT80 T586Sinsufficiently evaluated noneunknown
IFT80 A701Pinsufficiently evaluated pathogenicunknown
IFT80 R761Tinsufficiently evaluated not reviewedunknown
Total results: 9

Gene search

"GENE" or "GENE A123C":

Log in