GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RDH5 R70Qinsufficiently evaluated not reviewedunknown
RDH5 S73Finsufficiently evaluated pathogenicunknown
RDH5 T121Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
RDH5 R157Winsufficiently evaluated pathogenic, f=0.000unknown
RDH5 I161Vinsufficiently evaluated not reviewed, f=0.012unknown var-GS18504-1100-36-ASM
RDH5 V177Ginsufficiently evaluated pathogenicunknown
RDH5 G238Winsufficiently evaluated pathogenicunknown
RDH5 A240Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
RDH5 R280Hinsufficiently evaluated pathogenicunknown
RDH5 Y281Hinsufficiently evaluated pathogenicunknown
RDH5 A294Pinsufficiently evaluated pathogenicunknown
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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