GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SC5DL R29Qinsufficiently evaluated pathogenicunknown

(6 web hits)

SC5DL Y46Sinsufficiently evaluated pathogenicunknown

(5 web hits)

SC5DL K64Einsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
SC5DL K64Ninsufficiently evaluated not reviewedunknown
SC5DL G211Dinsufficiently evaluated pathogenicunknown

(6 web hits)

SC5DL R214Hinsufficiently evaluated not reviewed, f=0.001unknown var-GS18502-1100-36-ASM
Total results: 6

Gene search

"GENE" or "GENE A123C":

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