GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MKS1 D71Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
MKS1 R463Qinsufficiently evaluated none, f=0.002unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
MKS1 R479Hinsufficiently evaluated not reviewed, f=0.005unknown
MKS1 C492Winsufficiently evaluated pathogenicunknown
MKS1 S502Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
Total results: 5

Gene search

"GENE" or "GENE A123C":

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