GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RAG1 A64Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000006909
RAG1 A156Vinsufficiently evaluated pathogenicunknown

(9 web hits)

RAG1 E193Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
RAG1 H249Rinsufficiently evaluated none, f=0.469unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
RAG1 D302Einsufficiently evaluated not reviewed, f=0.026unknown var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS18505-1100-36-ASM
RAG1 R314Winsufficiently evaluated pathogenicunknown

(5 web hits)

RAG1 C328Yinsufficiently evaluated pathogenicunknown

(4 web hits)

RAG1 R396Cinsufficiently evaluated pathogenicunknown

(18 web hits)

RAG1 R396Hinsufficiently evaluated pathogenic, f=0.000unknown

(39 web hits)

RAG1 D429Ginsufficiently evaluated pathogenicunknown

(15 web hits)

RAG1 R449Kinsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS00253-DNA_A02_200_37
RAG1 M487Vinsufficiently evaluated not reviewedunknown
RAG1 R561Cinsufficiently evaluated pathogenic, f=0.000unknown

(14 web hits)

RAG1 R561Hinsufficiently evaluated pathogenicunknown

(28 web hits)

RAG1 A622Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
RAG1 E722Kinsufficiently evaluated pathogenicunknown

(19 web hits)

RAG1 R737Hinsufficiently evaluated pathogenicunknown

(15 web hits)

RAG1 E774Xinsufficiently evaluated pathogenicunknown

(4 web hits)

RAG1 R776Winsufficiently evaluated pathogenicunknown

(1 web hit)

RAG1 R778Qinsufficiently evaluated pathogenicunknown

(5 web hits)

RAG1 K820Rinsufficiently evaluated none, f=0.110unknown

(30 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19669-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
RAG1 R841Winsufficiently evaluated pathogenicunknown

(22 web hits)

RAG1 E880Kinsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
RAG1 D887Ninsufficiently evaluated none, f=0.001unknown
RAG1 Y912Cinsufficiently evaluated pathogenicunknown

(9 web hits)

RAG1 Y938Xinsufficiently evaluated pathogenicunknown

(4 web hits)

RAG1 R975Winsufficiently evaluated pathogenicunknown

(19 web hits)

RAG1 Q981Pinsufficiently evaluated pathogenicunknown

(8 web hits)

RAG1AP1 R159Winsufficiently evaluated not reviewedunknown
RAG1AP1 R160Winsufficiently evaluated not reviewedunknown
RAG1AP1 R214Winsufficiently evaluated not reviewedunknown
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Total results: 31

Gene search

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