GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SEMA4A G7Dinsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
SEMA4A D345Hinsufficiently evaluated pathogenicunknown

(8 web hits)

SEMA4A F350Cinsufficiently evaluated pathogenicunknown

(7 web hits)

SEMA4A S442Linsufficiently evaluated not reviewedunknown
SEMA4A A465Einsufficiently evaluated not reviewedunknown
SEMA4A G484Ainsufficiently evaluated not reviewed, f=0.001unknown var-GS19701-1100-36-ASM
SEMA4A R510Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS18942-1100-36-ASM
SEMA4A R561Hinsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
SEMA4A R581Qinsufficiently evaluated not reviewedunknown
SEMA4A A596Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01669-DNA_A04 from PGP sample 08188426
SEMA4A A597Einsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_A02_200_37
SEMA4A A676Vinsufficiently evaluated none, f=0.003unknown var-GS19129-1100-36-ASM
SEMA4A P682Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
SEMA4A R713Qinsufficiently evaluated pathogenic, f=0.037unknown

(7 web hits)

hu34D5B9 exome
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19648-1100-36-ASM (hom)
var-GS20502-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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