GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NLRP12 M1Iinsufficiently evaluated noneunknown
NLRP12 G39Vinsufficiently evaluated none, f=0.267unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
NLRP12 D142Ninsufficiently evaluated not reviewed, f=0.008unknown

(6 web hits)

var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
NLRP12 T143Sinsufficiently evaluated noneunknown
NLRP12 R206Cinsufficiently evaluated noneunknown
NLRP12 W234Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
NLRP12 C271Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
NLRP12 R284Xinsufficiently evaluated pathogenic, f=0.001unknown
NLRP12 P319Rinsufficiently evaluated not reviewed, f=0.008unknown

(6 web hits)

var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
NLRP12 R343Winsufficiently evaluated not reviewed, f=0.000unknown
NLRP12 E355Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
NLRP12 F402Linsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
NLRP12 S441Tinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A01_200_37
NLRP12 R451Hinsufficiently evaluated none, f=0.002unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
NLRP12 R859Qinsufficiently evaluated not reviewed, f=0.011unknown var-GS19239-1100-36-ASM
NLRP12 T860Sinsufficiently evaluated none, f=0.001unknown
NLRP12 C873Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
NLRP12 R919Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
var-GS18505-1100-36-ASM
NLRP12 R1016Xinsufficiently evaluated not reviewed, f=0.006unknown var-GS19026-1100-36-ASM
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Total results: 19

Gene search

"GENE" or "GENE A123C":

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