GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ARL13B R79Qinsufficiently evaluated pathogenicunknown

(5 web hits)

ARL13B W82Xinsufficiently evaluated pathogenicunknown

(3 web hits)

ARL13B K183Xinsufficiently evaluated noneunknown
ARL13B R200Cinsufficiently evaluated pathogenicunknown

(3 web hits)

ARL13B T241Sinsufficiently evaluated noneunknown
ARL13B K290Xinsufficiently evaluated noneunknown
ARL13B L306Minsufficiently evaluated not reviewedunknown
ARL13B S314Ginsufficiently evaluated not reviewedunknown
ARL13B T348Sinsufficiently evaluated none, f=0.087unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ARL13B P396Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
ARL13B L413Minsufficiently evaluated not reviewedunknown
ARL13B S421Ginsufficiently evaluated not reviewed, f=0.001unknown
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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