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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


15 records found for search term Copz1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8634750CV89970single nucleotide variantNM_016057.2(COPZ1):c.19-18A>GMalignant melanoma [RCV000070067]not provided125434052954340529Humanname
405684754CV3235582single nucleotide variantNM_016057.3(COPZ1):c.96C>T (p.Asp32=)not specified [RCV004372096]likely benign125434221454342214Humanname
405684731CV3235578single nucleotide variantNM_016057.3(COPZ1):c.35C>T (p.Thr12Ile)not specified [RCV004372092]uncertain significance125434056354340563Humanname
597649167CV3654199single nucleotide variantNM_016057.3(COPZ1):c.37G>A (p.Val13Ile)not specified [RCV004910317]uncertain significance125434056554340565Humanname
598234159CV3944968single nucleotide variantNM_016057.3(COPZ1):c.92A>G (p.Tyr31Cys)not specified [RCV005320040]uncertain significance125434221054342210Humanname
15149793CV753492single nucleotide variantNM_016057.3(COPZ1):c.477C>A (p.Thr159=)not provided [RCV000923353]benign125434964954349649Humanname
8634751CV89971single nucleotide variantNM_016057.2(COPZ1):c.462C>T (p.Pro154=)Malignant melanoma [RCV000070068]not provided125434963454349634Humanname
405684726CV3235577single nucleotide variantNM_016057.3(COPZ1):c.280C>A (p.Leu94Met)not specified [RCV004372091]uncertain significance125434547854345478Humanname
407456647CV3423344single nucleotide variantNM_016057.3(COPZ1):c.173A>T (p.Glu58Val)not specified [RCV004610808]uncertain significance125434322854343228Humanname
597649162CV3654198single nucleotide variantNM_016057.3(COPZ1):c.153G>C (p.Lys51Asn)not specified [RCV004910316]uncertain significance125434227154342271Humanname
598234167CV3944969single nucleotide variantNM_016057.3(COPZ1):c.185T>G (p.Leu62Trp)not specified [RCV005320041]uncertain significance125434324054343240Humanname
401772729CV2719741single nucleotide variantNM_016057.3(COPZ1):c.434G>A (p.Arg145Gln)not specified [RCV004329178]uncertain significance125434803854348038Humanname
401897158CV2789878single nucleotide variantNM_016057.3(COPZ1):c.325G>A (p.Val109Ile)not specified [RCV004362262]uncertain significance125434777454347774Humanname
405684736CV3235579single nucleotide variantNM_016057.3(COPZ1):c.412G>C (p.Asp138His)not specified [RCV004372093]uncertain significance125434801654348016Humanname
405684741CV3235580single nucleotide variantNM_016057.3(COPZ1):c.433C>T (p.Arg145Trp)not specified [RCV004372094]uncertain significance125434803754348037Humanname