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148 records found for search term Polr3f
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
404983522CV2849286single nucleotide variantNM_006466.4(POLR3F):c.-72C>Anot specified [RCV003489158]benign201846743518467435Humanname
156385287CV1874838single nucleotide variantNM_006466.4(POLR3F):c.873+7T>Anot provided [RCV003050809]likely benign201848181718481817Humanname
156298378CV1932659single nucleotide variantNM_006466.4(POLR3F):c.316+8T>Cnot provided [RCV002647514]likely benign201847346618473466Humanname
156258782CV2056992single nucleotide variantNM_006466.4(POLR3F):c.249-4A>Gnot provided [RCV002791942]uncertain significance201847338718473387Humanname
155918741CV2102253single nucleotide variantNM_006466.4(POLR3F):c.180+4A>Gnot provided [RCV002903238]uncertain significance201846906518469065Humanname
156099763CV2103097single nucleotide variantNM_006466.4(POLR3F):c.317-8T>Cnot provided [RCV002913358]benign201847506718475067Humanname
156357558CV2126180single nucleotide variantNM_006466.4(POLR3F):c.249-8C>Tnot provided [RCV002966769]likely benign201847338318473383Humanname
156271609CV2136567single nucleotide variantNM_006466.4(POLR3F):c.317-2A>Gnot provided [RCV003009286]likely benign201847507318475073Humanname
405101608CV2948141single nucleotide variantNM_006466.4(POLR3F):c.248+7A>Gnot provided [RCV003666120]likely benign201847291618472916Humanname
402490264CV2948974single nucleotide variantNM_006466.4(POLR3F):c.681+2T>Cnot provided [RCV003660480]uncertain significance201848051118480511Humanname
402490935CV2980946deletionNM_006466.4(POLR3F):c.316+7delnot provided [RCV003713766]uncertain significance201847346518473465Humanname
405031407CV3012835single nucleotide variantNM_006466.4(POLR3F):c.429+4A>Gnot provided [RCV003695600]uncertain significance201847519118475191Humanname
405089592CV3025065single nucleotide variantNM_006466.4(POLR3F):c.316+3A>Gnot provided [RCV003699569]uncertain significance201847346118473461Humanname
405219909CV3032020single nucleotide variantNM_006466.4(POLR3F):c.682-5T>Gnot provided [RCV003709814]uncertain significance201848161418481614Humanname
405197667CV3032646single nucleotide variantNM_006466.4(POLR3F):c.681+8C>Gnot provided [RCV003707107]uncertain significance201848051718480517Humanname
405186557CV3058775single nucleotide variantNM_006466.4(POLR3F):c.317-3T>Cnot provided [RCV003729319]uncertain significance201847507218475072Humanname
404991417CV3132278single nucleotide variantNM_006466.4(POLR3F):c.574-5T>Cnot provided [RCV003827216]likely benign201848039718480397Humanname
402484495CV3171183single nucleotide variantNM_006466.4(POLR3F):c.873+4A>Gnot provided [RCV003876210]uncertain significance201848181418481814Humanname
597905891CV3803996single nucleotide variantNM_006466.4(POLR3F):c.574-7C>Gnot provided [RCV005153542]likely benign201848039518480395Humanname
156392746CV1869701single nucleotide variantNM_006466.4(POLR3F):c.681+10G>Anot provided [RCV003051506]likely benign|uncertain significance201848051918480519Humanname
156390425CV1869821single nucleotide variantNM_006466.4(POLR3F):c.681+10G>Cnot provided [RCV003067955]likely benign|uncertain significance201848051918480519Humanname
155900882CV1975620single nucleotide variantNM_006466.4(POLR3F):c.874-15T>Cnot provided [RCV002613376]|not specified [RCV003491130]benign201848346618483466Humanname
156137802CV2032792single nucleotide variantNM_006466.4(POLR3F):c.429+18C>Gnot provided [RCV002740791]likely benign201847520518475205Humanname
156220871CV2083963single nucleotide variantNM_006466.4(POLR3F):c.249-12A>Gnot provided [RCV002875863]uncertain significance201847337918473379Humanname
156182654CV2102528single nucleotide variantNM_006466.4(POLR3F):c.429+14T>Cnot provided [RCV002917191]likely benign|uncertain significance201847520118475201Humanname
155911419CV2141676single nucleotide variantNM_006466.4(POLR3F):c.316+10T>Gnot provided [RCV002968079]benign201847346818473468Humanname
155916528CV2156121single nucleotide variantNM_006466.4(POLR3F):c.430-18G>Anot provided [RCV002991687]likely benign201848002018480020Humanname
156159486CV2191695deletionNM_006466.4(POLR3F):c.248+18delnot provided [RCV003040653]benign201847292118472921Humanname
404981906CV2848970single nucleotide variantNM_006466.4(POLR3F):c.430-68A>Tnot specified [RCV003488842]benign201847997018479970Humanname
404981954CV2848989single nucleotide variantNM_006466.4(POLR3F):c.873+64C>Gnot specified [RCV003488861]benign201848187418481874Humanname
404982798CV2849116single nucleotide variantNM_006466.4(POLR3F):c.430-41G>Anot specified [RCV003488988]benign201847999718479997Humanname
404983397CV2849233single nucleotide variantNM_006466.4(POLR3F):c.874-24A>Gnot specified [RCV003489105]benign201848345718483457Humanname
404983815CV2849362single nucleotide variantNM_006466.4(POLR3F):c.873+38A>Gnot specified [RCV003489234]benign201848184818481848Humanname
405217235CV2872673single nucleotide variantNM_006466.4(POLR3F):c.430-10T>Cnot provided [RCV003553380]uncertain significance201848002818480028Humanname
402505643CV2947405single nucleotide variantNM_006466.4(POLR3F):c.873+10A>Gnot provided [RCV003661886]uncertain significance201848182018481820Humanname
405139730CV2961868single nucleotide variantNM_006466.4(POLR3F):c.574-17T>Cnot provided [RCV003673120]likely benign201848038518480385Humanname
405245438CV2969200single nucleotide variantNM_006466.4(POLR3F):c.248+11G>Tnot provided [RCV003685162]likely benign201847292018472920Humanname
405181606CV3024354single nucleotide variantNM_006466.4(POLR3F):c.874-11C>Tnot provided [RCV003705588]likely benign|uncertain significance201848347018483470Humanname
405144062CV3027264single nucleotide variantNM_006466.4(POLR3F):c.574-10A>Gnot provided [RCV003702767]uncertain significance201848039218480392Humanname
402502542CV3032490single nucleotide variantNM_006466.4(POLR3F):c.874-15T>Anot provided [RCV003714892]likely benign|uncertain significance201848346618483466Humanname
405203786CV3033369single nucleotide variantNM_006466.4(POLR3F):c.180+18A>Gnot provided [RCV003707739]likely benign|uncertain significance201846907918469079Humanname
405223586CV3035618single nucleotide variantNM_006466.4(POLR3F):c.574-16G>Anot provided [RCV003710219]uncertain significance201848038618480386Humanname
402508275CV3036225single nucleotide variantNM_006466.4(POLR3F):c.874-20T>Cnot provided [RCV003715424]likely benign|uncertain significance201848346118483461Humanname
402505702CV3039018single nucleotide variantNM_006466.4(POLR3F):c.181-14G>Anot provided [RCV003715176]likely benign201847282818472828Humanname
402506009CV3039082single nucleotide variantNM_006466.4(POLR3F):c.429+17T>Cnot provided [RCV003715206]uncertain significance201847520418475204Humanname
405227262CV3039608single nucleotide variantNM_006466.4(POLR3F):c.316+15G>Cnot provided [RCV003710919]uncertain significance201847347318473473Humanname
402514103CV3039933single nucleotide variantNM_006466.4(POLR3F):c.573+19A>Gnot provided [RCV003715925]likely benign201848020018480200Humanname
402482672CV3041698deletionNM_006466.4(POLR3F):c.874-12delnot provided [RCV003712946]benign201848346118483461Humanname
597858479CV3816744single nucleotide variantNM_006466.4(POLR3F):c.682-19T>Gnot provided [RCV005146317]likely benign201848160018481600Humanname
597883713CV3834808single nucleotide variantNM_006466.4(POLR3F):c.574-18A>Gnot provided [RCV005178531]likely benign201848038418480384Humanname
597861116CV3850739single nucleotide variantNM_006466.4(POLR3F):c.181-19C>Gnot provided [RCV005195872]likely benign201847282318472823Humanname
617149161CV4021534single nucleotide variantNM_006466.4(POLR3F):c.317-275G>Anot provided [RCV005425503]benign201847480018474800Humanname
155925506CV2045109deletionNM_006466.4(POLR3F):c.874-15_874-12delnot provided [RCV002750911]uncertain significance201848346118483464Humanname
156048085CV2059935microsatelliteNM_006466.4(POLR3F):c.430-17_430-16delnot provided [RCV002796673]likely benign|uncertain significance201848001918480020Humanname
405155947CV3028142deletionNM_006466.4(POLR3F):c.874-13_874-12delnot provided [RCV003703617]benign201848346118483462Humanname
405201005CV3041328deletionNM_006466.4(POLR3F):c.317-21_317-17delnot provided [RCV003707440]likely benign201847505118475055Humanname
156299300CV2069825single nucleotide variantNM_006466.4(POLR3F):c.264C>T (p.Ser88=)not provided [RCV002833545]benign201847340618473406Humanname
156148205CV2131067single nucleotide variantNM_006466.4(POLR3F):c.291A>G (p.Gln97=)not provided [RCV002982557]likely benign201847343318473433Humanname
156100517CV2132608single nucleotide variantNM_006466.4(POLR3F):c.234C>T (p.Asp78=)not provided [RCV002979970]conflicting interpretations of pathogenicity|uncertain significance201847289518472895Humanname
155952568CV1896326single nucleotide variantNM_006466.4(POLR3F):c.663C>T (p.Cys221=)not provided [RCV003095413]uncertain significance201848049118480491Humanname
156413569CV1900996single nucleotide variantNM_006466.4(POLR3F):c.648G>A (p.Val216=)not provided [RCV002588204]uncertain significance201848047618480476Humanname
155986228CV1907718single nucleotide variantNM_006466.4(POLR3F):c.306A>C (p.Ala102=)not provided [RCV003097614]likely benign201847344818473448Humanname
156447506CV1945466single nucleotide variantNM_006466.4(POLR3F):c.783C>A (p.Gly261=)not provided [RCV003119035]likely benign|uncertain significance201848172018481720Humanname
156445021CV1949080single nucleotide variantNM_006466.4(POLR3F):c.873G>A (p.Pro291=)not provided [RCV003115955]uncertain significance201848181018481810Humanname
156151144CV2023059single nucleotide variantNM_006466.4(POLR3F):c.603C>T (p.Asn201=)not provided [RCV002741228]uncertain significance201848043118480431Humanname
156258316CV2026023single nucleotide variantNM_006466.4(POLR3F):c.667T>C (p.Leu223=)not provided [RCV002746219]likely benign|uncertain significance201848049518480495Humanname
156284869CV2043066single nucleotide variantNM_006466.4(POLR3F):c.348T>C (p.Ser116=)not provided [RCV002770521]likely benign|uncertain significance201847510618475106Humanname
156061097CV2044844single nucleotide variantNM_006466.4(POLR3F):c.672A>G (p.Gly224=)not provided [RCV002736841]likely benign|uncertain significance201848050018480500Humanname
155995470CV2060198single nucleotide variantNM_006466.4(POLR3F):c.840A>G (p.Thr280=)not provided [RCV002819402]|not specified [RCV003491151]benign201848177718481777Humanname
155977164CV2073142single nucleotide variantNM_006466.4(POLR3F):c.456C>G (p.Leu152=)not provided [RCV002842344]uncertain significance201848006418480064Humanname
156294830CV2073421single nucleotide variantNM_006466.4(POLR3F):c.438A>G (p.Lys146=)not provided [RCV002833352]uncertain significance201848004618480046Humanname
156134641CV2085749single nucleotide variantNM_006466.4(POLR3F):c.891C>T (p.His297=)not provided [RCV002871762]likely benign|uncertain significance201848349818483498Humanname
156122389CV2088106single nucleotide variantNM_006466.4(POLR3F):c.463C>T (p.Leu155=)not provided [RCV002871316]likely benign|uncertain significance201848007118480071Humanname
155992647CV2095567single nucleotide variantNM_006466.4(POLR3F):c.798C>T (p.His266=)not provided [RCV002908236]benign201848173518481735Humanname
156154917CV2098666single nucleotide variantNM_006466.4(POLR3F):c.600G>A (p.Gln200=)not provided [RCV002890781]benign201848042818480428Humanname
156361098CV2119477single nucleotide variantNM_006466.4(POLR3F):c.850C>A (p.Arg284=)not provided [RCV002966987]uncertain significance201848178718481787Humanname
156341503CV2127536single nucleotide variantNM_006466.4(POLR3F):c.444G>A (p.Lys148=)not provided [RCV002938924]uncertain significance201848005218480052Humanname
156283608CV2187005single nucleotide variantNM_006466.4(POLR3F):c.534G>A (p.Glu178=)not provided [RCV003044861]uncertain significance201848014218480142Humanname
401930371CV2827116single nucleotide variantNM_006466.4(POLR3F):c.828C>A (p.Ile276=)not provided [RCV003440353]likely benign201848176518481765Humanname
405019760CV2866233single nucleotide variantNM_006466.4(POLR3F):c.537G>C (p.Val179=)not provided [RCV003577491]likely benign201848014518480145Humanname
405093430CV2947184single nucleotide variantNM_006466.4(POLR3F):c.639A>G (p.Ser213=)not provided [RCV003665452]likely benign201848046718480467Humanname
405157873CV2961059single nucleotide variantNM_006466.4(POLR3F):c.870C>T (p.Cys290=)not provided [RCV003670518]uncertain significance201848180718481807Humanname
405065340CV3030716single nucleotide variantNM_006466.4(POLR3F):c.564A>G (p.Leu188=)not provided [RCV003697984]likely benign201848017218480172Humanname
405163703CV3059366single nucleotide variantNM_006466.4(POLR3F):c.888C>T (p.Cys296=)not provided [RCV003727278]likely benign201848349518483495Humanname
405220943CV3059826single nucleotide variantNM_006466.4(POLR3F):c.789A>G (p.Val263=)not provided [RCV003733187]likely benign201848172618481726Humanname
597892661CV3833321single nucleotide variantNM_006466.4(POLR3F):c.702C>T (p.Asp234=)not provided [RCV005180013]likely benign201848163918481639Humanname
152982155CV1679141single nucleotide variantNM_006466.4(POLR3F):c.271C>T (p.Gln91Ter)Immunodeficiency 101 (varicella zoster virus-specific) [RCV002248469]pathogenic201847341318473413Human1name
156400362CV1897554single nucleotide variantNM_006466.4(POLR3F):c.230A>G (p.Lys77Arg)not provided [RCV002584809]uncertain significance201847289118472891Humanname
156434038CV1946822single nucleotide variantNM_006466.4(POLR3F):c.133A>G (p.Ile45Val)not provided [RCV003104219]uncertain significance201846901418469014Humanname
156131676CV2112923deletionNM_006466.4(POLR3F):c.440del (p.Lys147fs)not provided [RCV002914576]uncertain significance201848004318480043Humanname
155910261CV2141509deletionNM_006466.4(POLR3F):c.907del (p.Ser303fs)not provided [RCV002967993]uncertain significance201848351218483512Humanname
156355091CV2188695duplicationNM_006466.4(POLR3F):c.498dup (p.Tyr167fs)not provided [RCV003048627]uncertain significance201848010418480105Humanname
156334693CV2191694single nucleotide variantNM_006466.4(POLR3F):c.134T>C (p.Ile45Thr)not provided [RCV003063895]uncertain significance201846901518469015Humanname
329397071CV2456574single nucleotide variantNM_006466.4(POLR3F):c.245C>G (p.Ala82Gly)not specified [RCV004277774]uncertain significance201847290618472906Humanname
401762061CV2722624single nucleotide variantNM_006466.4(POLR3F):c.206A>G (p.Asn69Ser)not provided [RCV003661034]|not specified [RCV004325081]uncertain significance201847286718472867Humanname
405218510CV2907572single nucleotide variantNM_006466.4(POLR3F):c.227T>A (p.Ile76Lys)not provided [RCV003568093]uncertain significance201847288818472888Humanname
402475317CV2919765duplicationNM_006466.4(POLR3F):c.443dup (p.Val149fs)not provided [RCV003571198]uncertain significance201848004918480050Humanname
405159907CV2955066single nucleotide variantNM_006466.4(POLR3F):c.160A>G (p.Ile54Val)not provided [RCV003670652]uncertain significance201846904118469041Humanname
405225676CV2989776single nucleotide variantNM_006466.4(POLR3F):c.248G>A (p.Gly83Asp)not provided [RCV003681377]uncertain significance201847290918472909Humanname
405153894CV3027945single nucleotide variantNM_006466.4(POLR3F):c.208A>T (p.Thr70Ser)not provided [RCV003703478]uncertain significance201847286918472869Humanname
405235790CV3040848single nucleotide variantNM_006466.4(POLR3F):c.185A>G (p.Gln62Arg)not provided [RCV003712240]uncertain significance201847284618472846Humanname
405164945CV3121857single nucleotide variantNM_006466.4(POLR3F):c.209C>T (p.Thr70Met)not provided [RCV003818635]uncertain significance201847287018472870Humanname
405667508CV3373626single nucleotide variantNM_006466.4(POLR3F):c.106C>G (p.Gln36Glu)not specified [RCV004514465]uncertain significance201846898718468987Humanname
405667514CV3373627single nucleotide variantNM_006466.4(POLR3F):c.113T>C (p.Ile38Thr)not specified [RCV004514466]uncertain significance201846899418468994Humanname
407481798CV3461021single nucleotide variantNM_006466.4(POLR3F):c.149G>A (p.Arg50Gln)not specified [RCV004664678]uncertain significance201846903018469030Humanname
156407099CV1874837single nucleotide variantNM_006466.4(POLR3F):c.850C>T (p.Arg284Trp)not provided [RCV003070729]|not specified [RCV005264325]uncertain significance201848178718481787Humanname
156265530CV1910277single nucleotide variantNM_006466.4(POLR3F):c.664G>A (p.Glu222Lys)not provided [RCV002627914]uncertain significance201848049218480492Humanname
156215299CV1931032single nucleotide variantNM_006466.4(POLR3F):c.943G>A (p.Glu315Lys)not provided [RCV002644174]|not specified [RCV004072043]uncertain significance201848355018483550Humanname
156445246CV1945246single nucleotide variantNM_006466.4(POLR3F):c.752C>T (p.Thr251Met)not provided [RCV003116186]uncertain significance201848168918481689Humanname
155950270CV2026172single nucleotide variantNM_006466.4(POLR3F):c.569C>A (p.Ser190Tyr)not provided [RCV002730645]uncertain significance201848017718480177Humanname
155968301CV2030588single nucleotide variantNM_006466.4(POLR3F):c.593G>C (p.Ser198Thr)not provided [RCV002731501]uncertain significance201848042118480421Humanname
156293554CV2065190single nucleotide variantNM_006466.4(POLR3F):c.676A>C (p.Ser226Arg)not provided [RCV002856850]uncertain significance201848050418480504Humanname
156029867CV2093262single nucleotide variantNM_006466.4(POLR3F):c.821A>G (p.Asn274Ser)not provided [RCV002885354]uncertain significance201848175818481758Humanname
156268642CV2102753single nucleotide variantNM_006466.4(POLR3F):c.832C>T (p.Pro278Ser)not provided [RCV002895850]benign201848176918481769Humanname
156094704CV2102847single nucleotide variantNM_006466.4(POLR3F):c.885C>A (p.Asp295Glu)not provided [RCV002913170]uncertain significance201848349218483492Humanname
155933290CV2113924single nucleotide variantNM_006466.4(POLR3F):c.892G>A (p.Glu298Lys)not provided [RCV002903955]uncertain significance201848349918483499Humanname
156018506CV2114679single nucleotide variantNM_006466.4(POLR3F):c.580A>G (p.Thr194Ala)not provided [RCV002909496]|not specified [RCV004847930]uncertain significance201848040818480408Humanname
156221204CV2124371single nucleotide variantNM_006466.4(POLR3F):c.851G>A (p.Arg284Gln)not provided [RCV002958148]uncertain significance201848178818481788Humanname
156166274CV2133384single nucleotide variantNM_006466.4(POLR3F):c.586C>T (p.Arg196Ter)not provided [RCV003005246]uncertain significance201848041418480414Humanname
156108188CV2149574single nucleotide variantNM_006466.4(POLR3F):c.301G>A (p.Asp101Asn)not provided [RCV003021300]uncertain significance201847344318473443Humanname
155967154CV2156130single nucleotide variantNM_006466.4(POLR3F):c.593G>T (p.Ser198Ile)not provided [RCV003015760]uncertain significance201848042118480421Humanname
156181589CV2167582single nucleotide variantNM_006466.4(POLR3F):c.308G>A (p.Gly103Glu)not provided [RCV003023843]uncertain significance201847345018473450Humanname
156128425CV2185826single nucleotide variantNM_006466.4(POLR3F):c.344A>G (p.Lys115Arg)not provided [RCV003055744]uncertain significance201847510218475102Humanname
156335538CV2191898single nucleotide variantNM_006466.4(POLR3F):c.317G>A (p.Gly106Glu)not provided [RCV003063943]uncertain significance201847507518475075Humanname
156262130CV2287568single nucleotide variantNM_006466.4(POLR3F):c.476G>A (p.Arg159Gln)not provided [RCV005099762]|not specified [RCV004141016]uncertain significance201848008418480084Humanname
156073565CV2365461single nucleotide variantNM_006466.4(POLR3F):c.622A>G (p.Ser208Gly)not provided [RCV003730348]|not specified [RCV004209535]uncertain significance201848045018480450Humanname
156390106CV2373065single nucleotide variantNM_006466.4(POLR3F):c.872C>T (p.Pro291Leu)not provided [RCV003730368]|not specified [RCV004217761]uncertain significance201848180918481809Humanname
155927107CV2395994single nucleotide variantNM_006466.4(POLR3F):c.839C>T (p.Thr280Ile)not specified [RCV004237542]uncertain significance201848177618481776Humanname
329377634CV2449879single nucleotide variantNM_006466.4(POLR3F):c.469C>G (p.Pro157Ala)not specified [RCV004268965]uncertain significance201848007718480077Humanname
402517290CV2874589single nucleotide variantNM_006466.4(POLR3F):c.884A>T (p.Asp295Val)not provided [RCV003547494]uncertain significance201848349118483491Humanname
405219889CV2904094single nucleotide variantNM_006466.4(POLR3F):c.526T>C (p.Phe176Leu)not provided [RCV003568271]uncertain significance201848013418480134Humanname
402488450CV2987718single nucleotide variantNM_006466.4(POLR3F):c.617G>A (p.Arg206Lys)not provided [RCV003713534]uncertain significance201848044518480445Humanname
405240184CV2993497single nucleotide variantNM_006466.4(POLR3F):c.341A>G (p.Tyr114Cys)not provided [RCV003718953]uncertain significance201847509918475099Humanname
405121190CV3027160single nucleotide variantNM_006466.4(POLR3F):c.920G>T (p.Cys307Phe)not provided [RCV003700705]uncertain significance201848352718483527Humanname
405234837CV3040707single nucleotide variantNM_006466.4(POLR3F):c.695T>A (p.Met232Lys)not provided [RCV003712150]uncertain significance201848163218481632Humanname
405083972CV3043617single nucleotide variantNM_006466.4(POLR3F):c.918C>A (p.Asn306Lys)not provided [RCV003717342]|not specified [RCV004654308]uncertain significance201848352518483525Humanname
405245069CV3054900single nucleotide variantNM_006466.4(POLR3F):c.607A>G (p.Met203Val)not provided [RCV003720181]uncertain significance201848043518480435Humanname
405213276CV3078189single nucleotide variantNM_006466.4(POLR3F):c.322T>G (p.Trp108Gly)not provided [RCV003732303]uncertain significance201847508018475080Humanname
402514541CV3178816single nucleotide variantNM_006466.4(POLR3F):c.916A>G (p.Asn306Asp)not provided [RCV003879249]uncertain significance201848352318483523Humanname
597777997CV3584062single nucleotide variantNM_006466.4(POLR3F):c.325A>T (p.Ser109Cys)not specified [RCV004852889]uncertain significance201847508318475083Humanname
597969235CV3761379single nucleotide variantNM_006466.4(POLR3F):c.587G>A (p.Arg196Gln)not provided [RCV005083766]uncertain significance201848041518480415Humanname
597975026CV3798686single nucleotide variantNM_006466.4(POLR3F):c.478T>C (p.Ser160Pro)not provided [RCV005144274]uncertain significance201848008618480086Humanname
597878320CV3813671single nucleotide variantNM_006466.4(POLR3F):c.355C>T (p.Pro119Ser)not provided [RCV005149413]uncertain significance201847511318475113Humanname
597877344CV3825775single nucleotide variantNM_006466.4(POLR3F):c.311A>G (p.Asn104Ser)not provided [RCV005177649]uncertain significance201847345318473453Humanname
597864084CV3860820single nucleotide variantNM_006466.4(POLR3F):c.722C>T (p.Thr241Ile)not provided [RCV005196348]uncertain significance201848165918481659Humanname
405226018CV3059241inversionNM_006466.4(POLR3F):c.839_840inv (p.Thr280Met)not provided [RCV003734059]uncertain significance201848177618481777Humanname
597954860CV3809351deletionNM_006466.4(POLR3F):c.407_409del (p.Ile136del)not provided [RCV005162075]uncertain significance201847516418475166Humanname
405154707CV3028025insertionNM_006466.4(POLR3F):c.859_860insAGGGCACCCT (p.Cys287Ter)not provided [RCV003703534]uncertain significance201848178718481788Humanname