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Pathways
Variants search result for All species
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38 records found for search term Ptrh1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598250570CV3901834single nucleotide variantNM_001002913.3(PTRH1):c.8C>T (p.Pro3Leu)not specified [RCV005259077]uncertain significance9127715632127715632Humanname
401759052CV2705355single nucleotide variantNM_001002913.3(PTRH1):c.23G>A (p.Gly8Asp)not specified [RCV004312030]uncertain significance9127715617127715617Humanname
405658081CV3315069single nucleotide variantNM_001002913.3(PTRH1):c.11G>A (p.Gly4Asp)not specified [RCV004438070]uncertain significance9127715629127715629Humanname
407486640CV3464738single nucleotide variantNM_001002913.3(PTRH1):c.13G>T (p.Gly5Cys)not specified [RCV004669279]uncertain significance9127715627127715627Humanname
13820737CV576129single nucleotide variantNM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser)not provided [RCV000709791]not provided9127715620127715620Humanname
329363555CV2442301single nucleotide variantNM_001002913.3(PTRH1):c.73C>T (p.Arg25Cys)not specified [RCV004264779]uncertain significance9127715567127715567Humanname
405658089CV3315072single nucleotide variantNM_001002913.3(PTRH1):c.49A>G (p.Met17Val)not specified [RCV004438073]uncertain significance9127715591127715591Humanname
405658092CV3315073single nucleotide variantNM_001002913.3(PTRH1):c.50T>A (p.Met17Lys)not specified [RCV004438074]uncertain significance9127715590127715590Humanname
407486652CV3464741single nucleotide variantNM_001002913.3(PTRH1):c.79C>T (p.Pro27Ser)not specified [RCV004669281]uncertain significance9127715561127715561Humanname
156281654CV2348795single nucleotide variantNM_001002913.3(PTRH1):c.208C>T (p.Arg70Trp)not specified [RCV004203241]uncertain significance9127715083127715083Humanname
156144944CV2393731single nucleotide variantNM_001002913.3(PTRH1):c.192G>C (p.Glu64Asp)not specified [RCV004231530]uncertain significance9127715099127715099Humanname
401750520CV2715669single nucleotide variantNM_001002913.3(PTRH1):c.224A>T (p.Asp75Val)not specified [RCV004327042]uncertain significance9127715067127715067Humanname
401893606CV2759844single nucleotide variantNM_001002913.3(PTRH1):c.203G>T (p.Arg68Leu)not specified [RCV004343275]uncertain significance9127715088127715088Humanname
405658078CV3315068single nucleotide variantNM_001002913.3(PTRH1):c.118G>A (p.Gly40Arg)not specified [RCV004438069]uncertain significance9127715173127715173Humanname
405658082CV3315070single nucleotide variantNM_001002913.3(PTRH1):c.220G>C (p.Ala74Pro)not specified [RCV004438071]uncertain significance9127715071127715071Humanname
597762960CV3582188single nucleotide variantNM_001002913.3(PTRH1):c.173G>A (p.Arg58Gln)not specified [RCV004849440]uncertain significance9127715118127715118Humanname
597762975CV3582191single nucleotide variantNM_001002913.3(PTRH1):c.275G>A (p.Arg92Gln)not specified [RCV004849443]uncertain significance9127715016127715016Humanname
156076066CV2230187single nucleotide variantNM_001002913.3(PTRH1):c.517C>G (p.Gln173Glu)not specified [RCV004099820]uncertain significance9127714228127714228Humanname
156332191CV2339747single nucleotide variantNM_001002913.3(PTRH1):c.433C>T (p.Arg145Cys)not specified [RCV004196446]uncertain significance9127714408127714408Humanname
156279211CV2348312single nucleotide variantNM_001002913.3(PTRH1):c.581G>A (p.Arg194Gln)not specified [RCV004193512]uncertain significance9127714164127714164Humanname
155917841CV2362425single nucleotide variantNM_001002913.3(PTRH1):c.425A>G (p.Asn142Ser)not specified [RCV004213047]uncertain significance9127714416127714416Humanname
329388497CV2437466single nucleotide variantNM_001002913.3(PTRH1):c.497C>T (p.Pro166Leu)not specified [RCV004256330]uncertain significance9127714248127714248Humanname
329372912CV2451724single nucleotide variantNM_001002913.3(PTRH1):c.317C>T (p.Ala106Val)not specified [RCV004274630]uncertain significance9127714702127714702Humanname
401865690CV2778891single nucleotide variantNM_001002913.3(PTRH1):c.538T>A (p.Phe180Ile)not specified [RCV004346774]uncertain significance9127714207127714207Humanname
405658086CV3315071single nucleotide variantNM_001002913.3(PTRH1):c.302G>A (p.Ser101Asn)not specified [RCV004438072]uncertain significance9127714989127714989Humanname
405658095CV3315074single nucleotide variantNM_001002913.3(PTRH1):c.533G>A (p.Gly178Asp)not specified [RCV004438075]uncertain significance9127714212127714212Humanname
405658098CV3315075single nucleotide variantNM_001002913.3(PTRH1):c.611G>A (p.Arg204His)not specified [RCV004438076]uncertain significance9127714134127714134Humanname
405658100CV3315076single nucleotide variantNM_001002913.3(PTRH1):c.638G>C (p.Gly213Ala)not specified [RCV004438077]uncertain significance9127714107127714107Humanname
407485529CV3464739single nucleotide variantNM_001002913.3(PTRH1):c.494G>T (p.Arg165Leu)not specified [RCV004662723]uncertain significance9127714251127714251Humanname
407486646CV3464740single nucleotide variantNM_001002913.3(PTRH1):c.338C>G (p.Ala113Gly)not specified [RCV004669280]uncertain significance9127714681127714681Humanname
407485537CV3464742single nucleotide variantNM_001002913.3(PTRH1):c.610C>T (p.Arg204Cys)not specified [RCV004662724]uncertain significance9127714135127714135Humanname
597762955CV3582187single nucleotide variantNM_001002913.3(PTRH1):c.457T>G (p.Ser153Ala)not specified [RCV004849439]uncertain significance9127714384127714384Humanname
597762965CV3582189single nucleotide variantNM_001002913.3(PTRH1):c.494G>A (p.Arg165His)not specified [RCV004849441]uncertain significance9127714251127714251Humanname
597762979CV3582192single nucleotide variantNM_001002913.3(PTRH1):c.629C>T (p.Pro210Leu)not specified [RCV004849444]uncertain significance9127714116127714116Humanname
597762985CV3582193single nucleotide variantNM_001002913.3(PTRH1):c.409A>G (p.Ser137Gly)not specified [RCV004849445]uncertain significance9127714610127714610Humanname
597762991CV3582194single nucleotide variantNM_001002913.3(PTRH1):c.626G>A (p.Gly209Glu)not specified [RCV004849446]uncertain significance9127714119127714119Humanname
598250578CV3901835single nucleotide variantNM_001002913.3(PTRH1):c.542C>T (p.Ser181Phe)not specified [RCV005259078]uncertain significance9127714203127714203Humanname
598250585CV3901836single nucleotide variantNM_001002913.3(PTRH1):c.412G>A (p.Ala138Thr)not specified [RCV005259079]uncertain significance9127714607127714607Humanname