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66 records found for search term Efs
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156397925CV2193962single nucleotide variantNM_005864.4(EFS):c.31C>T (p.Arg11Trp)not specified [RCV004074690]uncertain significance142336082123360821Humanname
156142414CV2386075single nucleotide variantNM_005864.4(EFS):c.97C>T (p.Arg33Trp)not specified [RCV004229133]uncertain significance142336075523360755Humanname
405716390CV3241703single nucleotide variantNM_005864.4(EFS):c.59C>G (p.Ser20Cys)not specified [RCV004377440]uncertain significance142336079323360793Humanname
15191779CV702818single nucleotide variantNM_005864.4(EFS):c.423C>T (p.Pro141=)not provided [RCV000954877]benign142336015623360156Humanname
156063386CV2228726single nucleotide variantNM_005864.4(EFS):c.286G>A (p.Glu96Lys)not specified [RCV004093202]uncertain significance142336056623360566Humanname
155918915CV2279315single nucleotide variantNM_005864.4(EFS):c.157G>A (p.Gly53Ser)not specified [RCV004139831]uncertain significance142336069523360695Humanname
329355705CV2445585single nucleotide variantNM_005864.4(EFS):c.133G>A (p.Gly45Ser)not specified [RCV004259672]uncertain significance142336071923360719Humanname
401743398CV2687942single nucleotide variantNM_005864.4(EFS):c.181A>G (p.Asn61Asp)not specified [RCV004305028]uncertain significance142336067123360671Humanname
405716359CV3241699single nucleotide variantNM_005864.4(EFS):c.119C>T (p.Ala40Val)not specified [RCV004377436]uncertain significance142336073323360733Humanname
156094054CV2252914single nucleotide variantNM_005864.4(EFS):c.883C>T (p.Arg295Trp)not specified [RCV004120740]uncertain significance142335959523359595Humanname
156062586CV2277240single nucleotide variantNM_005864.4(EFS):c.875A>T (p.His292Leu)not specified [RCV004142862]uncertain significance142335960323359603Humanname
156101336CV2291357single nucleotide variantNM_005864.4(EFS):c.635C>T (p.Pro212Leu)not specified [RCV004162044]uncertain significance142335984323359843Humanname
156349640CV2305673single nucleotide variantNM_005864.4(EFS):c.538C>T (p.Pro180Ser)not specified [RCV004167501]uncertain significance142335994023359940Humanname
156382988CV2363092single nucleotide variantNM_005864.4(EFS):c.641C>A (p.Pro214His)not specified [RCV004211218]uncertain significance142335983723359837Humanname
156251922CV2368930single nucleotide variantNM_005864.4(EFS):c.629G>A (p.Arg210Gln)not specified [RCV004207883]uncertain significance142335984923359849Humanname
156346120CV2373026single nucleotide variantNM_005864.4(EFS):c.557C>T (p.Ala186Val)not specified [RCV004224053]uncertain significance142335992123359921Humanname
156044776CV2381655single nucleotide variantNM_005864.4(EFS):c.692A>G (p.Asn231Ser)not specified [RCV004232126]uncertain significance142335978623359786Humanname
329371551CV2432009single nucleotide variantNM_005864.4(EFS):c.784G>T (p.Ala262Ser)not specified [RCV004249161]uncertain significance142335969423359694Humanname
329380829CV2440553single nucleotide variantNM_005864.4(EFS):c.910C>T (p.Arg304Cys)not specified [RCV004256467]uncertain significance142335956823359568Humanname
329400927CV2445883single nucleotide variantNM_005864.4(EFS):c.859A>C (p.Ser287Arg)not specified [RCV004270498]uncertain significance142335961923359619Humanname
329359629CV2461580single nucleotide variantNM_005864.4(EFS):c.911G>A (p.Arg304His)not specified [RCV004269761]uncertain significance142335956723359567Humanname
329380564CV2466689single nucleotide variantNM_005864.4(EFS):c.499G>A (p.Ala167Thr)not specified [RCV004276195]uncertain significance142335997923359979Humanname
401760727CV2706067single nucleotide variantNM_005864.4(EFS):c.742A>T (p.Thr248Ser)not specified [RCV004314762]uncertain significance142335973623359736Humanname
401759546CV2712545single nucleotide variantNM_005864.4(EFS):c.604C>T (p.Pro202Ser)not specified [RCV004307880]uncertain significance142335987423359874Humanname
401893455CV2763435single nucleotide variantNM_005864.4(EFS):c.911G>T (p.Arg304Leu)not specified [RCV004349324]uncertain significance142335956723359567Humanname
401881727CV2767846single nucleotide variantNM_005864.4(EFS):c.429T>G (p.Asp143Glu)not specified [RCV004345961]uncertain significance142336015023360150Humanname
401880383CV2780027single nucleotide variantNM_005864.4(EFS):c.391C>T (p.Pro131Ser)not specified [RCV004355698]uncertain significance142336018823360188Humanname
401898563CV2784640single nucleotide variantNM_005864.4(EFS):c.547G>A (p.Glu183Lys)not specified [RCV004352470]uncertain significance142335993123359931Humanname
405716382CV3241702single nucleotide variantNM_005864.4(EFS):c.343C>G (p.Pro115Ala)not specified [RCV004377439]uncertain significance142336023623360236Humanname
405716403CV3241705single nucleotide variantNM_005864.4(EFS):c.889C>T (p.Pro297Ser)not specified [RCV004377442]uncertain significance142335958923359589Humanname
407497934CV3441790single nucleotide variantNM_005864.4(EFS):c.976C>T (p.Pro326Ser)not specified [RCV004622337]uncertain significance142335950223359502Humanname
407497938CV3441791single nucleotide variantNM_005864.4(EFS):c.368C>G (p.Ser123Cys)not specified [RCV004622338]uncertain significance142336021123360211Humanname
407497942CV3441792single nucleotide variantNM_005864.4(EFS):c.667C>G (p.Leu223Val)not specified [RCV004622339]uncertain significance142335981123359811Humanname
407497946CV3441793single nucleotide variantNM_005864.4(EFS):c.892T>C (p.Ser298Pro)not specified [RCV004622340]uncertain significance142335958623359586Humanname
597646163CV3664378single nucleotide variantNM_005864.4(EFS):c.775G>A (p.Gly259Arg)not specified [RCV004909925]uncertain significance142335970323359703Humanname
597646175CV3664381single nucleotide variantNM_005864.4(EFS):c.964C>T (p.Pro322Ser)not specified [RCV004909927]uncertain significance142335951423359514Humanname
597646204CV3664385single nucleotide variantNM_005864.4(EFS):c.853G>T (p.Ala285Ser)not specified [RCV004909931]uncertain significance142335962523359625Humanname
598167599CV3964900single nucleotide variantNM_005864.4(EFS):c.767C>T (p.Pro256Leu)not specified [RCV005330076]uncertain significance142335971123359711Humanname
598167606CV3964901single nucleotide variantNM_005864.4(EFS):c.658C>T (p.Pro220Ser)not specified [RCV005330077]uncertain significance142335982023359820Humanname
156381637CV2215677single nucleotide variantNM_005864.4(EFS):c.1291G>A (p.Gly431Arg)not specified [RCV004091208]uncertain significance142335762123357621Humanname
156068602CV2270930single nucleotide variantNM_005864.4(EFS):c.1004G>T (p.Arg335Leu)not specified [RCV004131967]uncertain significance142335947423359474Humanname
156289482CV2309707single nucleotide variantNM_005864.4(EFS):c.1459G>T (p.Val487Phe)not specified [RCV004160840]uncertain significance142335745323357453Humanname
156077540CV2331889single nucleotide variantNM_005864.4(EFS):c.1109A>G (p.Asn370Ser)not specified [RCV004186544]uncertain significance142335936923359369Humanname
156333074CV2335925single nucleotide variantNM_005864.4(EFS):c.1460T>C (p.Val487Ala)not specified [RCV004189536]uncertain significance142335745223357452Humanname
156162988CV2368355single nucleotide variantNM_005864.4(EFS):c.1582G>A (p.Gly528Ser)not specified [RCV004219131]uncertain significance142335733023357330Humanname
155935326CV2371774single nucleotide variantNM_005864.4(EFS):c.1483G>C (p.Ala495Pro)not specified [RCV004219436]uncertain significance142335742923357429Humanname
156133505CV2382962single nucleotide variantNM_005864.4(EFS):c.1391A>C (p.Asn464Thr)not specified [RCV004217552]uncertain significance142335752123357521Humanname
329369195CV2424755single nucleotide variantNM_005864.4(EFS):c.1411G>A (p.Val471Met)not specified [RCV004248648]uncertain significance142335750123357501Humanname
329399268CV2436219single nucleotide variantNM_005864.4(EFS):c.1448G>A (p.Arg483His)not specified [RCV004249848]uncertain significance142335746423357464Humanname
329373669CV2447321single nucleotide variantNM_005864.4(EFS):c.1046G>T (p.Gly349Val)not specified [RCV004262605]uncertain significance142335943223359432Humanname
329397449CV2456178single nucleotide variantNM_005864.4(EFS):c.1334G>A (p.Ser445Asn)not specified [RCV004273368]uncertain significance142335757823357578Humanname
401728416CV2672922single nucleotide variantNM_005864.4(EFS):c.1189C>G (p.Pro397Ala)not specified [RCV004283925]uncertain significance142335893823358938Humanname
401735627CV2692157single nucleotide variantNM_005864.4(EFS):c.1283T>C (p.Val428Ala)not specified [RCV004301856]uncertain significance142335762923357629Humanname
401752968CV2703619single nucleotide variantNM_005864.4(EFS):c.1678G>T (p.Ala560Ser)not specified [RCV004317785]uncertain significance142335723423357234Humanname
401776850CV2711432single nucleotide variantNM_005864.4(EFS):c.1674C>G (p.Ser558Arg)not specified [RCV004313180]uncertain significance142335723823357238Humanname
401776983CV2721557single nucleotide variantNM_005864.4(EFS):c.1405C>T (p.Leu469Phe)not specified [RCV004316072]uncertain significance142335750723357507Humanname
405716335CV3241697single nucleotide variantNM_005864.4(EFS):c.1003C>T (p.Arg335Trp)not specified [RCV004377434]uncertain significance142335947523359475Humanname
405716346CV3241698single nucleotide variantNM_005864.4(EFS):c.1027C>T (p.Arg343Cys)not specified [RCV004377435]uncertain significance142335945123359451Humanname
405716370CV3241700single nucleotide variantNM_005864.4(EFS):c.1400C>A (p.Pro467Gln)not specified [RCV004377437]uncertain significance142335751223357512Humanname
405716376CV3241701single nucleotide variantNM_005864.4(EFS):c.1651C>A (p.Gln551Lys)not specified [RCV004377438]uncertain significance142335726123357261Humanname
407497930CV3441789single nucleotide variantNM_005864.4(EFS):c.1028G>A (p.Arg343His)not specified [RCV004622336]uncertain significance142335945023359450Humanname
597646170CV3664379single nucleotide variantNM_005864.4(EFS):c.1555G>A (p.Val519Met)not specified [RCV004909926]uncertain significance142335735723357357Humanname
597646183CV3664382single nucleotide variantNM_005864.4(EFS):c.1682C>T (p.Pro561Leu)not specified [RCV004909928]uncertain significance142335723023357230Humanname
597646188CV3664383single nucleotide variantNM_005864.4(EFS):c.1180G>A (p.Gly394Arg)not specified [RCV004909929]uncertain significance142335894723358947Humanname
597646196CV3664384single nucleotide variantNM_005864.4(EFS):c.1295A>G (p.Asp432Gly)not specified [RCV004909930]uncertain significance142335761723357617Humanname
598167592CV3964899single nucleotide variantNM_005864.4(EFS):c.1051A>G (p.Lys351Glu)not specified [RCV005330075]uncertain significance142335942723359427Humanname