GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PHKA2 E38Qinsufficiently evaluated not reviewed, f=0.024unknown var-GS20502-1100-36-ASM
PHKA2 H132Pinsufficiently evaluated pathogenicunknown

(8 web hits)

PHKA2 H132Yinsufficiently evaluated pathogenicunknown

(8 web hits)

PHKA2 T158Ainsufficiently evaluated not reviewed, f=0.003unknown

(2 web hits)

CGI sample GS00253-DNA_B02_200_37 (hom)
PHKA2 R186Hinsufficiently evaluated pathogenicunknown

(16 web hits)

PHKA2 K189Einsufficiently evaluated pathogenicunknown

(8 web hits)

PHKA2 D299Ginsufficiently evaluated pathogenicunknown

(9 web hits)

PHKA2 R556Cinsufficiently evaluated pathogenicunknown
PHKA2 I693Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_B04 from PGP sample 88590671
PHKA2 Q766Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PHKA2 Q1009Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PHKA2 S1049Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PHKA2 T1114Iinsufficiently evaluated pathogenicunknown

(11 web hits)

PHKA2 P1205Linsufficiently evaluated pathogenicunknown

(3 web hits)

Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

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