GET-Evidence: Search

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VariantImpactInheritance patternSummaryGenomes
RAB3GAP1 S62Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
RAB3GAP1 L223Finsufficiently evaluated not reviewed, f=0.007unknown var-GS19025-1100-36-ASM
var-GS19026-1100-36-ASM
RAB3GAP1 P436Linsufficiently evaluated not reviewed, f=0.002unknown var-GS18504-1100-36-ASM
var-GS19017-1100-36-ASM
RAB3GAP1 Y442Cinsufficiently evaluated not reviewed, f=0.012unknown var-GS18504-1100-36-ASM
RAB3GAP1 L513Pinsufficiently evaluated not reviewedunknown
RAB3GAP1 W578Xinsufficiently evaluated pathogenicunknown
RAB3GAP1 N598Sinsufficiently evaluated none, f=0.115unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
RAB3GAP1 R671Xinsufficiently evaluated pathogenicunknown

(1 web hit)

RAB3GAP1 F755Linsufficiently evaluated not reviewedunknown
RAB3GAP1 P934Ainsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
RAB3GAP1 P934Tinsufficiently evaluated not reviewedunknown
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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