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10 records found for search term Cops5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155930077CV2366534single nucleotide variantNM_006837.3(COPS5):c.50A>G (p.Asn17Ser)not specified [RCV004208509]uncertain significance86706194767061947Humanname
156050656CV2304597single nucleotide variantNM_006837.3(COPS5):c.142G>A (p.Asp48Asn)not specified [RCV004166492]uncertain significance86706185567061855Humanname
405684662CV3235564single nucleotide variantNM_006837.3(COPS5):c.200T>A (p.Met67Lys)not specified [RCV004372078]uncertain significance86705938967059389Humanname
8626601CV81745single nucleotide variantNM_006837.2(COPS5):c.134G>A (p.Trp45Ter)Malignant melanoma [RCV000061823]not provided86706186367061863Humanname
155969314CV2309056single nucleotide variantNM_006837.3(COPS5):c.910A>G (p.Thr304Ala)not specified [RCV004171424]uncertain significance86704582267045822Humanname
329368309CV2442695single nucleotide variantNM_006837.3(COPS5):c.837G>T (p.Gln279His)not specified [RCV004265040]uncertain significance86704589567045895Humanname
405684667CV3235565single nucleotide variantNM_006837.3(COPS5):c.754T>A (p.Ser252Thr)not specified [RCV004372079]uncertain significance86705124767051247Humanname
597649006CV3654180single nucleotide variantNM_006837.3(COPS5):c.837G>C (p.Gln279His)not specified [RCV004910299]uncertain significance86704589567045895Humanname
597649015CV3654181single nucleotide variantNM_006837.3(COPS5):c.800T>C (p.Phe267Ser)not specified [RCV004910300]uncertain significance86704593267045932Humanname
598234116CV3944961single nucleotide variantNM_006837.3(COPS5):c.701A>C (p.Asp234Ala)not specified [RCV005320033]uncertain significance86705130067051300Humanname