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Variants search result for All species
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109 records found for search term Afm
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401863100CV2776675single nucleotide variantNM_001133.2(AFM):c.79C>T (p.Arg27Trp)not specified [RCV004357840]uncertain significance47348185473481854Humanname
405776858CV3249952single nucleotide variantNM_001133.2(AFM):c.99T>G (p.Asn33Lys)not specified [RCV004386108]uncertain significance47348395173483951Humanname
407498509CV3437990single nucleotide variantNM_001133.2(AFM):c.97A>G (p.Asn33Asp)not specified [RCV004622477]uncertain significance47348394973483949Humanname
156141776CV2208452single nucleotide variantNM_001133.2(AFM):c.238G>A (p.Asp80Asn)not specified [RCV004090991]uncertain significance47348435873484358Humanname
155903572CV2282252single nucleotide variantNM_001133.2(AFM):c.205G>T (p.Asp69Tyr)not specified [RCV004133093]uncertain significance47348432573484325Humanname
401876899CV2767756single nucleotide variantNM_001133.2(AFM):c.106C>A (p.Gln36Lys)not specified [RCV004345883]uncertain significance47348395873483958Humanname
401898459CV2787938single nucleotide variantNM_001133.2(AFM):c.172G>C (p.Ala58Pro)not specified [RCV004358597]uncertain significance47348429273484292Humanname
401875432CV2792015single nucleotide variantNM_001133.2(AFM):c.257G>T (p.Cys86Phe)not specified [RCV004359423]uncertain significance47348437773484377Humanname
405776713CV3249929single nucleotide variantNM_001133.2(AFM):c.245C>T (p.Thr82Met)not specified [RCV004386085]uncertain significance47348436573484365Humanname
597662065CV3666753single nucleotide variantNM_001133.2(AFM):c.275A>C (p.Asn92Thr)not specified [RCV004912002]uncertain significance47348586673485866Humanname
597662137CV3666762single nucleotide variantNM_001133.2(AFM):c.158A>G (p.Gln53Arg)not specified [RCV004912010]uncertain significance47348427873484278Humanname
597734298CV3666790single nucleotide variantNM_001133.2(AFM):c.284A>G (p.Gln95Arg)not specified [RCV004920235]uncertain significance47348587573485875Humanname
597662346CV3666795single nucleotide variantNM_001133.2(AFM):c.220A>G (p.Lys74Glu)not specified [RCV004912035]uncertain significance47348434073484340Humanname
156135129CV2213303single nucleotide variantNM_001133.2(AFM):c.799G>T (p.Asp267Tyr)not specified [RCV004085515]uncertain significance47348871573488715Humanname
155978811CV2222759single nucleotide variantNM_001133.2(AFM):c.992G>A (p.Gly331Glu)not specified [RCV004101600]uncertain significance47349202073492020Humanname
156335445CV2272870single nucleotide variantNM_001133.2(AFM):c.448G>C (p.Ala150Pro)not specified [RCV004135773]uncertain significance47348603973486039Humanname
156346766CV2305484single nucleotide variantNM_001133.2(AFM):c.999T>A (p.Phe333Leu)not specified [RCV004165198]uncertain significance47349202773492027Humanname
155951515CV2309685single nucleotide variantNM_001133.2(AFM):c.599A>C (p.Asn200Thr)not specified [RCV004160821]uncertain significance47348708373487083Humanname
156070782CV2318918single nucleotide variantNM_001133.2(AFM):c.350T>A (p.Val117Asp)not specified [RCV004175813]uncertain significance47348594173485941Humanname
156402405CV2363972single nucleotide variantNM_001133.2(AFM):c.835C>T (p.Arg279Cys)not specified [RCV004218939]uncertain significance47348875173488751Humanname
156208810CV2382548single nucleotide variantNM_001133.2(AFM):c.722C>T (p.Ala241Val)not specified [RCV004232878]uncertain significance47348863873488638Humanname
329371934CV2454992single nucleotide variantNM_001133.2(AFM):c.773T>C (p.Leu258Pro)not specified [RCV004272256]uncertain significance47348868973488689Humanname
401755814CV2675505single nucleotide variantNM_001133.2(AFM):c.632A>G (p.Gln211Arg)not specified [RCV004295122]uncertain significance47348774073487740Humanname
401861779CV2756681single nucleotide variantNM_001133.2(AFM):c.409C>T (p.Pro137Ser)not specified [RCV004345192]uncertain significance47348600073486000Humanname
405776719CV3249930single nucleotide variantNM_001133.2(AFM):c.510C>A (p.Asn170Lys)not specified [RCV004386086]uncertain significance47348699473486994Humanname
405776725CV3249931single nucleotide variantNM_001133.2(AFM):c.541G>A (p.Val181Ile)not specified [RCV004386087]uncertain significance47348702573487025Humanname
407498469CV3437980single nucleotide variantNM_001133.2(AFM):c.806G>A (p.Cys269Tyr)not specified [RCV004622467]uncertain significance47348872273488722Humanname
407498539CV3437999single nucleotide variantNM_001133.2(AFM):c.416T>C (p.Phe139Ser)not specified [RCV004622486]uncertain significance47348600773486007Humanname
597661702CV3666700single nucleotide variantNM_001133.2(AFM):c.929G>A (p.Arg310His)not specified [RCV004911959]uncertain significance47349195773491957Humanname
597661772CV3666710single nucleotide variantNM_001133.2(AFM):c.663A>C (p.Lys221Asn)not specified [RCV004911968]uncertain significance47348777173487771Humanname
597661862CV3666721single nucleotide variantNM_001133.2(AFM):c.800A>G (p.Asp267Gly)not specified [RCV004911978]uncertain significance47348871673488716Humanname
597661946CV3666732single nucleotide variantNM_001133.2(AFM):c.299C>T (p.Ala100Val)not specified [RCV004911988]uncertain significance47348589073485890Humanname
597734266CV3666770single nucleotide variantNM_001133.2(AFM):c.579T>G (p.Cys193Trp)not specified [RCV004920229]uncertain significance47348706373487063Humanname
597662241CV3666781single nucleotide variantNM_001133.2(AFM):c.697A>C (p.Lys233Gln)not specified [RCV004912023]likely benign47348780573487805Humanname
597662354CV3666796single nucleotide variantNM_001133.2(AFM):c.748A>T (p.Ile250Phe)not specified [RCV004912036]uncertain significance47348866473488664Humanname
598185072CV3960387single nucleotide variantNM_001133.2(AFM):c.631C>A (p.Gln211Lys)not specified [RCV005333797]uncertain significance47348773973487739Humanname
598185354CV3960434single nucleotide variantNM_001133.2(AFM):c.308G>A (p.Gly103Glu)not specified [RCV005333844]uncertain significance47348589973485899Humanname
598185424CV3960445single nucleotide variantNM_001133.2(AFM):c.464G>C (p.Arg155Thr)not specified [RCV005333855]uncertain significance47348605573486055Humanname
598185569CV3960468single nucleotide variantNM_001133.2(AFM):c.587A>G (p.Gln196Arg)not specified [RCV005333878]uncertain significance47348707173487071Humanname
8631273CV86433single nucleotide variantNM_001133.2(AFM):c.493G>A (p.Glu165Lys)Malignant melanoma [RCV000066524]not provided47348697773486977Humanname
156142502CV2200017single nucleotide variantNM_001133.2(AFM):c.1689T>G (p.Asp563Glu)not specified [RCV004074178]uncertain significance47350182973501829Humanname
156135461CV2213395single nucleotide variantNM_001133.2(AFM):c.1302G>C (p.Arg434Ser)not specified [RCV004087378]uncertain significance47349912673499126Humanname
156360237CV2269004single nucleotide variantNM_001133.2(AFM):c.1315G>C (p.Ala439Pro)not specified [RCV004128401]uncertain significance47349913973499139Humanname
156186497CV2302711single nucleotide variantNM_001133.2(AFM):c.1738T>G (p.Cys580Gly)not specified [RCV004162645]uncertain significance47350187873501878Humanname
155971310CV2309284single nucleotide variantNM_001133.2(AFM):c.1793G>A (p.Gly598Asp)not specified [RCV004165446]uncertain significance47350306373503063Humanname
155972309CV2334321single nucleotide variantNM_001133.2(AFM):c.1078A>G (p.Arg360Gly)not specified [RCV004188301]uncertain significance47349531973495319Humanname
155978151CV2338935single nucleotide variantNM_001133.2(AFM):c.1070A>G (p.Glu357Gly)not specified [RCV004184525]uncertain significance47349531173495311Humanname
156086874CV2341102single nucleotide variantNM_001133.2(AFM):c.1068T>G (p.Phe356Leu)not specified [RCV004181581]uncertain significance47349530973495309Humanname
156054276CV2344621single nucleotide variantNM_001133.2(AFM):c.1055C>A (p.Ala352Glu)not specified [RCV004197393]uncertain significance47349208373492083Humanname
155928677CV2369543single nucleotide variantNM_001133.2(AFM):c.1189G>A (p.Ala397Thr)not specified [RCV004214964]uncertain significance47349543073495430Humanname
156003318CV2399648single nucleotide variantNM_001133.2(AFM):c.1477C>T (p.Pro493Ser)not specified [RCV004244163]uncertain significance47350005873500058Humanname
156225411CV2399649single nucleotide variantNM_001133.2(AFM):c.1478C>G (p.Pro493Arg)not specified [RCV004244164]uncertain significance47350005973500059Humanname
401731869CV2690177single nucleotide variantNM_001133.2(AFM):c.1538T>G (p.Leu513Trp)not specified [RCV004302189]uncertain significance47350011973500119Humanname
401725983CV2699005single nucleotide variantNM_001133.2(AFM):c.1405G>A (p.Ala469Thr)not specified [RCV004303530]uncertain significance47349922973499229Humanname
401779118CV2702176single nucleotide variantNM_001133.2(AFM):c.1354G>A (p.Glu452Lys)not specified [RCV004314526]likely benign47349917873499178Humanname
401760475CV2705933single nucleotide variantNM_001133.2(AFM):c.1658A>T (p.Asn553Ile)not specified [RCV004320859]uncertain significance47350179873501798Humanname
401746680CV2731904single nucleotide variantNM_001133.2(AFM):c.1007G>A (p.Ser336Asn)not specified [RCV004333149]uncertain significance47349203573492035Humanname
401884870CV2774882single nucleotide variantNM_001133.2(AFM):c.1117A>G (p.Ile373Val)not specified [RCV004343962]uncertain significance47349535873495358Humanname
401891915CV2780786single nucleotide variantNM_001133.2(AFM):c.1363G>T (p.Val455Leu)not specified [RCV004352109]uncertain significance47349918773499187Humanname
405776532CV3249875single nucleotide variantNM_001133.2(AFM):c.1021C>G (p.Gln341Glu)not specified [RCV004386031]likely benign47349204973492049Humanname
405777238CV3249894single nucleotide variantNM_001133.2(AFM):c.1208A>G (p.Glu403Gly)not specified [RCV004386050]uncertain significance47349766873497668Humanname
405776585CV3249908single nucleotide variantNM_001133.2(AFM):c.1433T>G (p.Val478Gly)not specified [RCV004386064]uncertain significance47350001473500014Humanname
597662006CV3666743single nucleotide variantNM_001133.2(AFM):c.1055C>T (p.Ala352Val)not specified [RCV004911995]uncertain significance47349208373492083Humanname
597662364CV3666802single nucleotide variantNM_001133.2(AFM):c.1703C>G (p.Ser568Cys)not specified [RCV004912037]uncertain significance47350184373501843Humanname
597662373CV3666804single nucleotide variantNM_001133.2(AFM):c.1101A>G (p.Ile367Met)not specified [RCV004912038]uncertain significance47349534273495342Humanname
598185232CV3960415single nucleotide variantNM_001133.2(AFM):c.1391T>C (p.Leu464Pro)not specified [RCV005333825]uncertain significance47349921573499215Humanname
598185497CV3960457single nucleotide variantNM_001133.2(AFM):c.1700A>G (p.Gln567Arg)not specified [RCV005333867]uncertain significance47350184073501840Humanname
405776938CV3249964single nucleotide variantNM_001010982.5(AFMID):c.4A>G (p.Met2Val)not specified [RCV004386120]uncertain significance177818737478187374Humanname
156037399CV2243781single nucleotide variantNM_001010982.5(AFMID):c.98T>C (p.Val33Ala)not specified [RCV004114472]uncertain significance177819100478191004Humanname
401906591CV2808445single nucleotide variantNM_001010982.5(AFMID):c.618A>G (p.Ser206=)not provided [RCV003421515]likely benign177820549278205492Humanname
401906592CV2808446single nucleotide variantNM_001010982.5(AFMID):c.861C>T (p.Thr287=)not provided [RCV003421516]likely benign177820602678206026Humanname
597662582CV3666870single nucleotide variantNM_001010982.5(AFMID):c.79T>C (p.Tyr27His)not specified [RCV004912069]uncertain significance177819098578190985Humanname
598185860CV3960516single nucleotide variantNM_001010982.5(AFMID):c.32G>C (p.Ser11Thr)not specified [RCV005333926]uncertain significance177818740278187402Humanname
156071282CV2365295single nucleotide variantNM_001010982.5(AFMID):c.104G>A (p.Arg35Gln)not specified [RCV004209386]uncertain significance177819101078191010Humanname
401857878CV2774024single nucleotide variantNM_001010982.5(AFMID):c.251C>T (p.Ser84Leu)not specified [RCV004345633]uncertain significance177820259578202595Humanname
597662390CV3666828single nucleotide variantNM_001010982.5(AFMID):c.122C>A (p.Ala41Asp)not specified [RCV004912040]uncertain significance177819102878191028Humanname
597662551CV3666863single nucleotide variantNM_001010982.5(AFMID):c.185G>A (p.Ser62Asn)not specified [RCV004912064]uncertain significance177820252978202529Humanname
598185901CV3960524single nucleotide variantNM_001010982.5(AFMID):c.232A>G (p.Ile78Val)not specified [RCV005333934]uncertain significance177820257678202576Humanname
598185918CV3960527single nucleotide variantNM_001010982.5(AFMID):c.256G>A (p.Glu86Lys)not specified [RCV005333937]uncertain significance177820260078202600Humanname
598185942CV3960533single nucleotide variantNM_001010982.5(AFMID):c.203A>G (p.Tyr68Cys)not specified [RCV005333943]uncertain significance177820254778202547Humanname
156118487CV2209262single nucleotide variantNM_001010982.5(AFMID):c.613A>G (p.Thr205Ala)not specified [RCV004093448]uncertain significance177820548778205487Humanname
156383835CV2220220single nucleotide variantNM_001010982.5(AFMID):c.520C>T (p.Leu174Phe)not specified [RCV004095671]uncertain significance177820514578205145Humanname
156022340CV2223150single nucleotide variantNM_001010982.5(AFMID):c.331G>C (p.Val111Leu)not specified [RCV004103995]uncertain significance177820467878204678Humanname
156121033CV2233837single nucleotide variantNM_001010982.5(AFMID):c.418C>A (p.Gln140Lys)not specified [RCV004102054]uncertain significance177820485178204851Humanname
156026097CV2242319single nucleotide variantNM_001010982.5(AFMID):c.398C>A (p.Thr133Asn)not specified [RCV004111334]uncertain significance177820483178204831Humanname
156169722CV2247335single nucleotide variantNM_001010982.5(AFMID):c.883C>G (p.Gln295Glu)not specified [RCV004108681]uncertain significance177820604878206048Humanname
155980677CV2336943single nucleotide variantNM_001010982.5(AFMID):c.577G>C (p.Val193Leu)not specified [RCV004192718]uncertain significance177820545178205451Humanname
155913419CV2341775single nucleotide variantNM_001010982.5(AFMID):c.695C>T (p.Pro232Leu)not specified [RCV004184733]uncertain significance177820565378205653Humanname
156154859CV2374967single nucleotide variantNM_001010982.5(AFMID):c.377A>G (p.Tyr126Cys)not specified [RCV004227982]uncertain significance177820472478204724Humanname
156030907CV2380917single nucleotide variantNM_001010982.5(AFMID):c.844A>G (p.Ile282Val)not specified [RCV004220503]uncertain significance177820600978206009Humanname
156198982CV2392219single nucleotide variantNM_001010982.5(AFMID):c.740A>T (p.Asp247Val)not specified [RCV004243831]uncertain significance177820569878205698Humanname
401732451CV2691012single nucleotide variantNM_001010982.5(AFMID):c.304G>A (p.Gly102Arg)not specified [RCV004301029]uncertain significance177820274778202747Humanname
401770649CV2707330single nucleotide variantNM_001010982.5(AFMID):c.577G>A (p.Val193Met)not specified [RCV004312733]uncertain significance177820545178205451Humanname
401784302CV2721248single nucleotide variantNM_001010982.5(AFMID):c.873C>A (p.Asn291Lys)not specified [RCV004330183]uncertain significance177820603878206038Humanname
401757333CV2734951single nucleotide variantNM_001010982.5(AFMID):c.379G>A (p.Gly127Ser)not specified [RCV004333658]uncertain significance177820472678204726Humanname
405776917CV3249961single nucleotide variantNM_001010982.5(AFMID):c.407A>G (p.His136Arg)not specified [RCV004386117]uncertain significance177820484078204840Humanname
405777353CV3249974single nucleotide variantNM_001010982.5(AFMID):c.607G>A (p.Val203Met)not specified [RCV004386130]likely benign177820548178205481Humanname
405777031CV3249979single nucleotide variantNM_001010982.5(AFMID):c.713G>A (p.Arg238His)not specified [RCV004386135]uncertain significance177820567178205671Humanname
405777037CV3249980single nucleotide variantNM_001010982.5(AFMID):c.727G>A (p.Val243Met)not specified [RCV004386136]uncertain significance177820568578205685Humanname
405777096CV3249989single nucleotide variantNM_001010982.5(AFMID):c.797A>G (p.Glu266Gly)not specified [RCV004386145]likely benign177820596278205962Humanname
405777150CV3249997single nucleotide variantNM_001010982.5(AFMID):c.837C>G (p.His279Gln)not specified [RCV004386153]uncertain significance177820600278206002Humanname
405777453CV3250022single nucleotide variantNM_001010982.5(AFMID):c.874G>A (p.Val292Met)not specified [RCV004386178]uncertain significance177820603978206039Humanname
597662382CV3666810single nucleotide variantNM_001010982.5(AFMID):c.739G>A (p.Asp247Asn)not specified [RCV004912039]uncertain significance177820569778205697Humanname
597734304CV3666832single nucleotide variantNM_001010982.5(AFMID):c.368T>C (p.Ile123Thr)not specified [RCV004920236]uncertain significance177820471578204715Humanname
597734317CV3666841single nucleotide variantNM_001010982.5(AFMID):c.496G>A (p.Gly166Arg)not specified [RCV004920238]uncertain significance177820512178205121Humanname
597662485CV3666852single nucleotide variantNM_001010982.5(AFMID):c.901A>G (p.Ile301Val)not specified [RCV004912054]uncertain significance177820692678206926Humanname
598185641CV3960479single nucleotide variantNM_001010982.5(AFMID):c.452G>A (p.Arg151Gln)not specified [RCV005333889]likely benign177820488578204885Humanname
598185816CV3960507single nucleotide variantNM_001010982.5(AFMID):c.835C>T (p.His279Tyr)not specified [RCV005333917]uncertain significance177820600078206000Humanname
598185835CV3960511single nucleotide variantNM_001010982.5(AFMID):c.529G>A (p.Asp177Asn)not specified [RCV005333921]likely benign177820515478205154Humanname