GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BBS9 T12Ainsufficiently evaluated not reviewed, f=0.014unknown var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19026-1100-36-ASM
BBS9 V416Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
BBS9 A455Tinsufficiently evaluated none, f=0.173unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18505-1100-36-ASM
var-GS19669-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
BBS9 P481Tinsufficiently evaluated noneunknown

(3 web hits)

BBS9 T509Iinsufficiently evaluated noneunknown
BBS9 T514Iinsufficiently evaluated noneunknown
BBS9 P516Tinsufficiently evaluated none, f=0.014unknown var-GS19700-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19238-1100-36-ASM
BBS9 R521Qinsufficiently evaluated not reviewed, f=0.011unknown var-GS19704-1100-36-ASM
BBS9 T544Iinsufficiently evaluated noneunknown
BBS9 T549Iinsufficiently evaluated none, f=0.010unknown var-GS19701-1100-36-ASM
var-GS19129-1100-36-ASM
BBS9 L665Finsufficiently evaluated not reviewed, f=0.003unknown var-GS18508-1100-36-ASM
BBS9 A739Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS18508-1100-36-ASM
BBS9 S788Finsufficiently evaluated not reviewed, f=0.001unknown var-GS20502-1100-36-ASM
Page: 1 2
Total results: 13

Gene search

"GENE" or "GENE A123C":

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