GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CA2 K17Einsufficiently evaluated pathogenicunknown

(13 web hits)

CA2 Y40Xinsufficiently evaluated pathogenicunknown

(12 web hits)

CA2 T55Sinsufficiently evaluated not reviewedunknown

(20 web hits)

CA2 H107Yinsufficiently evaluated pathogenicunknown

(10 web hits)

CA2 P237Hinsufficiently evaluated pathogenicunknown

(3 web hits)

CA2 N252Dinsufficiently evaluated pathogenic, f=0.030unknown

(6 web hits)

hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
Total results: 6

Gene search

"GENE" or "GENE A123C":

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