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Variants search result for All species
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270 records found for search term Cobl
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
34891425CV906136deletionNM_015198.5(COBL):c.958-41_960delnot specified [RCV001175057]uncertain significance75108530251085345Humanname
155945889CV2265902single nucleotide variantNM_015198.5(COBL):c.11C>G (p.Pro4Arg)not specified [RCV004126756]uncertain significance75131662351316623Humanname
405675797CV3306822single nucleotide variantNM_015198.5(COBL):c.20C>T (p.Ser7Leu)not specified [RCV004442389]uncertain significance75131661451316614Humanname
15151307CV711045single nucleotide variantNM_015198.5(COBL):c.141G>A (p.Ser47=)not provided [RCV000968111]benign75121984551219845Humanname
15123018CV736175single nucleotide variantNM_015198.5(COBL):c.171G>A (p.Ala57=)not provided [RCV000896338]benign75121981551219815Humanname
8626436CV81580single nucleotide variantNM_015198.3(COBL):c.246C>T (p.Ser82=)Malignant melanoma [RCV000061658]not provided75119358951193589Humanname
401889751CV2763366single nucleotide variantNM_015198.5(COBL):c.40G>C (p.Gly14Arg)not specified [RCV004349258]uncertain significance75131659451316594Humanname
15180783CV711044single nucleotide variantNM_015198.5(COBL):c.666C>T (p.Tyr222=)not provided [RCV000974234]benign75119086951190869Humanname
156153079CV2265962single nucleotide variantNM_015198.5(COBL):c.251C>T (p.Ala84Val)not specified [RCV004126802]uncertain significance75119358451193584Humanname
329387193CV2463428single nucleotide variantNM_015198.5(COBL):c.187A>T (p.Met63Leu)not specified [RCV004277262]uncertain significance75121979951219799Humanname
401732922CV2685372single nucleotide variantNM_015198.5(COBL):c.187A>G (p.Met63Val)not specified [RCV004292367]likely benign75121979951219799Humanname
401875994CV2777615single nucleotide variantNM_015198.5(COBL):c.121C>G (p.His41Asp)not specified [RCV004343460]uncertain significance75121986551219865Humanname
401922618CV2825697single nucleotide variantNM_015198.5(COBL):c.1974G>A (p.Glu658=)not provided [RCV003433836]likely benign75102912251029122Humanname
405675766CV3306816single nucleotide variantNM_015198.5(COBL):c.121C>T (p.His41Tyr)not specified [RCV004442382]uncertain significance75121986551219865Humanname
405675775CV3306817single nucleotide variantNM_015198.5(COBL):c.146A>G (p.Gln49Arg)not specified [RCV004442384]uncertain significance75121984051219840Humanname
405675802CV3306823single nucleotide variantNM_015198.5(COBL):c.212G>C (p.Ser71Thr)not specified [RCV004442390]uncertain significance75121977451219774Humanname
597772319CV3650869single nucleotide variantNM_015198.5(COBL):c.158G>C (p.Arg53Pro)not specified [RCV004897322]uncertain significance75121982851219828Humanname
598259231CV3952077single nucleotide variantNM_015198.5(COBL):c.188T>C (p.Met63Thr)not specified [RCV005324750]uncertain significance75121979851219798Humanname
598259254CV3952081single nucleotide variantNM_015198.5(COBL):c.235C>T (p.Leu79Phe)not specified [RCV005324754]uncertain significance75121975151219751Humanname
598215823CV3952082single nucleotide variantNM_015198.5(COBL):c.275T>C (p.Leu92Pro)not specified [RCV005316825]uncertain significance75119356051193560Humanname
8689379CV97467single nucleotide variantNM_015198.5(COBL):c.215G>T (p.Gly72Val)not provided [RCV000122546]uncertain significance75121977151219771Humanname
156326760CV2217132single nucleotide variantNM_015198.5(COBL):c.394G>A (p.Val132Met)not specified [RCV004085804]uncertain significance75119344151193441Humanname
155930171CV2224678single nucleotide variantNM_015198.5(COBL):c.372T>G (p.Ile124Met)not specified [RCV004092520]uncertain significance75119346351193463Humanname
156031832CV2239235single nucleotide variantNM_015198.5(COBL):c.385G>A (p.Val129Met)not specified [RCV004112209]uncertain significance75119345051193450Humanname
155964724CV2308414single nucleotide variantNM_015198.5(COBL):c.884C>T (p.Ser295Leu)not specified [RCV004166714]uncertain significance75113623151136231Humanname
156074880CV2365559single nucleotide variantNM_015198.5(COBL):c.889A>G (p.Met297Val)not specified [RCV004211673]uncertain significance75113622651136226Humanname
401733200CV2685456single nucleotide variantNM_015198.5(COBL):c.602A>G (p.Asn201Ser)not specified [RCV004294483]uncertain significance75119093351190933Humanname
401735846CV2689192single nucleotide variantNM_015198.5(COBL):c.779G>A (p.Ser260Asn)not specified [RCV004306041]uncertain significance75118410651184106Humanname
401734238CV2690522single nucleotide variantNM_015198.5(COBL):c.877G>A (p.Val293Met)not specified [RCV004304639]uncertain significance75113623851136238Humanname
401750808CV2712164single nucleotide variantNM_015198.5(COBL):c.376A>G (p.Thr126Ala)not specified [RCV004311884]uncertain significance75119345951193459Humanname
401876400CV2760756single nucleotide variantNM_015198.5(COBL):c.950C>T (p.Ser317Leu)not specified [RCV004336401]uncertain significance75113616551136165Humanname
401870538CV2762859single nucleotide variantNM_015198.5(COBL):c.898C>T (p.Arg300Cys)not specified [RCV004340405]uncertain significance75113621751136217Humanname
401922491CV2825695single nucleotide variantNM_015198.5(COBL):c.3729C>T (p.Asp1243=)not provided [RCV003433834]likely benign75102514851025148Humanname
405685911CV3306840single nucleotide variantNM_015198.5(COBL):c.443C>T (p.Pro148Leu)not specified [RCV004444390]uncertain significance75119339251193392Humanname
405685917CV3306841single nucleotide variantNM_015198.5(COBL):c.508C>T (p.Arg170Cys)not specified [RCV004444391]uncertain significance75119102751191027Humanname
405685922CV3306842single nucleotide variantNM_015198.5(COBL):c.811T>C (p.Ser271Pro)not specified [RCV004444392]uncertain significance75113630451136304Humanname
407471411CV3425911single nucleotide variantNM_015198.5(COBL):c.573C>A (p.Ser191Arg)not specified [RCV004615687]uncertain significance75119096251190962Humanname
407471433CV3425917single nucleotide variantNM_015198.5(COBL):c.323G>A (p.Arg108Gln)not specified [RCV004615693]uncertain significance75119351251193512Humanname
407471450CV3425921single nucleotide variantNM_015198.5(COBL):c.913C>A (p.Pro305Thr)not specified [RCV004615697]uncertain significance75113620251136202Humanname
407471456CV3425922single nucleotide variantNM_015198.5(COBL):c.823C>T (p.Arg275Cys)not specified [RCV004615698]uncertain significance75113629251136292Humanname
597772385CV3650885single nucleotide variantNM_015198.5(COBL):c.676A>G (p.Asn226Asp)not specified [RCV004897336]uncertain significance75119085951190859Humanname
598259249CV3952080single nucleotide variantNM_015198.5(COBL):c.784G>A (p.Gly262Ser)not specified [RCV005324753]uncertain significance75113633151136331Humanname
15150336CV736174single nucleotide variantNM_015198.5(COBL):c.3702C>T (p.Thr1234=)not provided [RCV000901129]benign75102517551025175Humanname
150474295CV1263338single nucleotide variantNM_015198.5(COBL):c.1963G>C (p.Ala655Pro)not provided [RCV001684860]benign75102913351029133Humanname
156372907CV2204654single nucleotide variantNM_015198.5(COBL):c.2393C>G (p.Thr798Arg)not specified [RCV004081758]uncertain significance75102870351028703Humanname
156331642CV2218195single nucleotide variantNM_015198.5(COBL):c.1828G>A (p.Gly610Arg)not specified [RCV004088401]uncertain significance75102926851029268Humanname
156295523CV2239723single nucleotide variantNM_015198.5(COBL):c.2378C>A (p.Ser793Tyr)not specified [RCV004108263]uncertain significance75102871851028718Humanname
156274161CV2254766single nucleotide variantNM_015198.5(COBL):c.2855G>T (p.Gly952Val)not specified [RCV004115236]uncertain significance75102824151028241Humanname
155964502CV2261645single nucleotide variantNM_015198.5(COBL):c.1230G>A (p.Met410Ile)not specified [RCV004125967]uncertain significance75104355951043559Humanname
155961338CV2285516single nucleotide variantNM_015198.5(COBL):c.1273A>G (p.Ser425Gly)not specified [RCV004139359]uncertain significance75104351651043516Humanname
156050633CV2304596single nucleotide variantNM_015198.5(COBL):c.2330A>T (p.Glu777Val)not specified [RCV004166491]uncertain significance75102876651028766Humanname
156037787CV2332569single nucleotide variantNM_015198.5(COBL):c.1126T>G (p.Cys376Gly)not specified [RCV004196283]uncertain significance75104366351043663Humanname
156222366CV2343942single nucleotide variantNM_015198.5(COBL):c.1469G>A (p.Arg490His)not specified [RCV004195562]likely benign75103084751030847Humanname
156242251CV2346985single nucleotide variantNM_015198.5(COBL):c.2236G>A (p.Gly746Ser)not specified [RCV004202429]uncertain significance75102886051028860Humanname
156282287CV2348846single nucleotide variantNM_015198.5(COBL):c.2161G>C (p.Asp721His)not specified [RCV004203288]uncertain significance75102893551028935Humanname
156346352CV2353520single nucleotide variantNM_015198.5(COBL):c.2957G>A (p.Arg986His)not specified [RCV004199504]likely benign75102813951028139Humanname
156173546CV2355187single nucleotide variantNM_015198.5(COBL):c.2517G>A (p.Met839Ile)not specified [RCV004198568]uncertain significance75102857951028579Humanname
156184661CV2377754single nucleotide variantNM_015198.5(COBL):c.2853G>C (p.Arg951Ser)not specified [RCV004230337]likely benign75102824351028243Humanname
155963003CV2388332single nucleotide variantNM_015198.5(COBL):c.1568A>G (p.Asn523Ser)not specified [RCV004234783]likely benign75102952851029528Humanname
156096267CV2399063single nucleotide variantNM_015198.5(COBL):c.1631T>C (p.Ile544Thr)not specified [RCV004245359]uncertain significance75102946551029465Humanname
156222169CV2399685single nucleotide variantNM_015198.5(COBL):c.2375C>T (p.Pro792Leu)not specified [RCV004245504]uncertain significance75102872151028721Humanname
156005780CV2401129single nucleotide variantNM_015198.5(COBL):c.2261C>T (p.Ser754Leu)not specified [RCV004245694]uncertain significance75102883551028835Humanname
329380981CV2440449single nucleotide variantNM_015198.5(COBL):c.2132T>C (p.Ile711Thr)not specified [RCV004256382]uncertain significance75102896451028964Humanname
329399996CV2444248single nucleotide variantNM_015198.5(COBL):c.2276C>G (p.Ala759Gly)not specified [RCV004263017]uncertain significance75102882051028820Humanname
329358290CV2450253single nucleotide variantNM_015198.5(COBL):c.2978G>A (p.Cys993Tyr)not specified [RCV004271355]uncertain significance75102811851028118Humanname
329357276CV2453520single nucleotide variantNM_015198.5(COBL):c.1817A>G (p.Asp606Gly)not specified [RCV004269207]uncertain significance75102927951029279Humanname
401726917CV2674600single nucleotide variantNM_015198.5(COBL):c.2776A>G (p.Lys926Glu)not specified [RCV004291470]uncertain significance75102832051028320Humanname
401728237CV2676024single nucleotide variantNM_015198.5(COBL):c.1706C>T (p.Ser569Leu)not specified [RCV004282011]uncertain significance75102939051029390Humanname
401742157CV2676907single nucleotide variantNM_015198.5(COBL):c.1958G>A (p.Gly653Asp)not specified [RCV004291070]uncertain significance75102913851029138Humanname
401736449CV2683024single nucleotide variantNM_015198.5(COBL):c.2956C>T (p.Arg986Cys)not specified [RCV004283807]uncertain significance75102814051028140Humanname
401775294CV2692326single nucleotide variantNM_015198.5(COBL):c.2535G>T (p.Arg845Ser)not specified [RCV004310311]uncertain significance75102856151028561Humanname
401762960CV2710387single nucleotide variantNM_015198.5(COBL):c.2888C>T (p.Thr963Ile)not specified [RCV004317550]uncertain significance75102820851028208Humanname
401739004CV2722031single nucleotide variantNM_015198.5(COBL):c.2230G>A (p.Ala744Thr)not specified [RCV004326516]likely benign75102886651028866Humanname
401769732CV2731580single nucleotide variantNM_015198.5(COBL):c.1969G>A (p.Gly657Arg)not specified [RCV004330925]uncertain significance75102912751029127Humanname
401863051CV2755822single nucleotide variantNM_015198.5(COBL):c.1001G>A (p.Arg334Gln)not specified [RCV004342192]uncertain significance75108526151085261Humanname
401859937CV2765212single nucleotide variantNM_015198.5(COBL):c.2705T>C (p.Val902Ala)not specified [RCV004339739]uncertain significance75102839151028391Humanname
401863709CV2773200single nucleotide variantNM_015198.5(COBL):c.1968C>G (p.Asp656Glu)not specified [RCV004351923]uncertain significance75102912851029128Humanname
401922492CV2825696single nucleotide variantNM_015198.5(COBL):c.2672A>G (p.Tyr891Cys)not provided [RCV003433835]likely benign75102842451028424Humanname
405239024CV3081485single nucleotide variantNM_015198.5(COBL):c.2440A>G (p.Ile814Val)not provided [RCV003736534]uncertain significance75102865651028656Humanname
405675759CV3306815single nucleotide variantNM_015198.5(COBL):c.1027C>T (p.Pro343Ser)not specified [RCV004442381]uncertain significance75108523551085235Humanname
405675780CV3306818single nucleotide variantNM_015198.5(COBL):c.1549T>G (p.Ser517Ala)not specified [RCV004442385]uncertain significance75102954751029547Humanname
405675785CV3306819single nucleotide variantNM_015198.5(COBL):c.1558G>C (p.Gly520Arg)not specified [RCV004442386]uncertain significance75102953851029538Humanname
405675789CV3306820single nucleotide variantNM_015198.5(COBL):c.1756C>T (p.His586Tyr)not specified [RCV004442387]uncertain significance75102934051029340Humanname
405675793CV3306821single nucleotide variantNM_015198.5(COBL):c.1996G>A (p.Val666Met)not specified [RCV004442388]uncertain significance75102910051029100Humanname
405675807CV3306824single nucleotide variantNM_015198.5(COBL):c.2203G>A (p.Glu735Lys)not specified [RCV004442391]uncertain significance75102889351028893Humanname
405675817CV3306826single nucleotide variantNM_015198.5(COBL):c.2530G>A (p.Val844Met)not specified [RCV004442393]uncertain significance75102856651028566Humanname
405675822CV3306827single nucleotide variantNM_015198.5(COBL):c.2684G>T (p.Gly895Val)not specified [RCV004442394]uncertain significance75102841251028412Humanname
405675827CV3306828single nucleotide variantNM_015198.5(COBL):c.2699C>T (p.Ala900Val)not specified [RCV004442395]likely benign75102839751028397Humanname
405675832CV3306829single nucleotide variantNM_015198.5(COBL):c.2804C>T (p.Thr935Ile)not specified [RCV004442396]uncertain significance75102829251028292Humanname
405675837CV3306830single nucleotide variantNM_015198.5(COBL):c.2853G>T (p.Arg951Ser)not specified [RCV004442397]likely benign75102824351028243Humanname
405675842CV3306831single nucleotide variantNM_015198.5(COBL):c.2957G>T (p.Arg986Leu)not specified [RCV004442398]uncertain significance75102813951028139Humanname
405852854CV3393280single nucleotide variantNM_015198.5(COBL):c.1600G>A (p.Gly534Ser)not provided [RCV004546010]likely benign75102949651029496Humanname
407471408CV3425910single nucleotide variantNM_015198.5(COBL):c.1739C>T (p.Ala580Val)not specified [RCV004615686]uncertain significance75102935751029357Humanname
407471415CV3425912single nucleotide variantNM_015198.5(COBL):c.2359T>C (p.Ser787Pro)not specified [RCV004615688]uncertain significance75102873751028737Humanname
407471419CV3425913single nucleotide variantNM_015198.5(COBL):c.1057C>T (p.Arg353Cys)not specified [RCV004615689]uncertain significance75108520551085205Humanname
407471429CV3425916single nucleotide variantNM_015198.5(COBL):c.2072G>A (p.Arg691Gln)not specified [RCV004615692]uncertain significance75102902451029024Humanname
407471438CV3425918single nucleotide variantNM_015198.5(COBL):c.2597A>G (p.Gln866Arg)not specified [RCV004615694]uncertain significance75102849951028499Humanname
407471443CV3425919single nucleotide variantNM_015198.5(COBL):c.1065G>C (p.Glu355Asp)not specified [RCV004615695]uncertain significance75108519751085197Humanname
407471446CV3425920single nucleotide variantNM_015198.5(COBL):c.1490A>G (p.Asp497Gly)not specified [RCV004615696]uncertain significance75103082651030826Humanname
597772314CV3650868single nucleotide variantNM_015198.5(COBL):c.2623C>T (p.Arg875Cys)not specified [RCV004897321]uncertain significance75102847351028473Humanname
597772323CV3650871single nucleotide variantNM_015198.5(COBL):c.1676A>G (p.Asn559Ser)not specified [RCV004897323]uncertain significance75102942051029420Humanname
597772332CV3650873single nucleotide variantNM_015198.5(COBL):c.2417G>C (p.Arg806Thr)not specified [RCV004897325]uncertain significance75102867951028679Humanname
597772341CV3650875single nucleotide variantNM_015198.5(COBL):c.2258C>G (p.Ser753Cys)not specified [RCV004897327]uncertain significance75102883851028838Humanname
597772347CV3650876single nucleotide variantNM_015198.5(COBL):c.2321A>G (p.Asn774Ser)not specified [RCV004897328]uncertain significance75102877551028775Humanname
597772371CV3650882single nucleotide variantNM_015198.5(COBL):c.1565C>G (p.Ser522Cys)not specified [RCV004897333]uncertain significance75102953151029531Humanname
597772376CV3650883single nucleotide variantNM_015198.5(COBL):c.1796C>T (p.Ala599Val)not specified [RCV004897334]uncertain significance75102930051029300Humanname
597772390CV3650886single nucleotide variantNM_015198.5(COBL):c.1364G>T (p.Ser455Ile)not specified [RCV004897337]uncertain significance75104342551043425Humanname
597772393CV3650887single nucleotide variantNM_015198.5(COBL):c.1135G>A (p.Asp379Asn)not specified [RCV004897338]uncertain significance75104365451043654Humanname
597772398CV3650888single nucleotide variantNM_015198.5(COBL):c.2561T>A (p.Val854Asp)not specified [RCV004897339]uncertain significance75102853551028535Humanname
597772403CV3650889single nucleotide variantNM_015198.5(COBL):c.2014A>G (p.Asn672Asp)not specified [RCV004897340]uncertain significance75102908251029082Humanname
598259205CV3952072single nucleotide variantNM_015198.5(COBL):c.1710G>C (p.Glu570Asp)not specified [RCV005324745]uncertain significance75102938651029386Humanname
598259211CV3952073single nucleotide variantNM_015198.5(COBL):c.2044G>C (p.Ala682Pro)not specified [RCV005324746]uncertain significance75102905251029052Humanname
598259237CV3952078single nucleotide variantNM_015198.5(COBL):c.2032G>A (p.Asp678Asn)not specified [RCV005324751]uncertain significance75102906451029064Humanname
15166181CV700136single nucleotide variantNM_015198.5(COBL):c.1801C>T (p.His601Tyr)not provided [RCV000948773]benign75102929551029295Humanname
15191095CV700137single nucleotide variantNM_015198.5(COBL):c.1538C>T (p.Ser513Phe)not provided [RCV000954675]benign75102955851029558Humanname
8626435CV81579single nucleotide variantNM_015198.3(COBL):c.1235C>T (p.Ser412Phe)Malignant melanoma [RCV000061657]not provided75104355451043554Humanname
8632600CV87815single nucleotide variantNM_015198.5(COBL):c.1468C>T (p.Arg490Cys)not specified [RCV004442383]uncertain significance|not provided75103084851030848Humanname
155919914CV2209775single nucleotide variantNM_015198.5(COBL):c.3628C>T (p.Pro1210Ser)not specified [RCV004083088]uncertain significance75102524951025249Humanname
156010546CV2291038single nucleotide variantNM_015198.5(COBL):c.3199G>C (p.Glu1067Gln)not specified [RCV004151574]uncertain significance75102789751027897Humanname
155919414CV2333192single nucleotide variantNM_015198.5(COBL):c.3056C>T (p.Thr1019Ile)not specified [RCV004194480]uncertain significance75102804051028040Humanname
156063056CV2352691single nucleotide variantNM_015198.5(COBL):c.3550G>A (p.Ala1184Thr)not specified [RCV004198718]uncertain significance75102532751025327Humanname
156005762CV2357698single nucleotide variantNM_015198.5(COBL):c.3074A>C (p.His1025Pro)not specified [RCV004205000]uncertain significance75102802251028022Humanname
156249873CV2394145single nucleotide variantNM_015198.5(COBL):c.3505G>T (p.Val1169Leu)not specified [RCV004236344]uncertain significance75102537251025372Humanname
329372458CV2424099single nucleotide variantNM_015198.5(COBL):c.3400G>A (p.Gly1134Arg)not specified [RCV004248002]uncertain significance75102665051026650Humanname
329351751CV2455259single nucleotide variantNM_015198.5(COBL):c.3622C>T (p.Pro1208Ser)not specified [RCV004274776]uncertain significance75102525551025255Humanname
401767343CV2681630single nucleotide variantNM_015198.5(COBL):c.3709G>A (p.Ala1237Thr)not specified [RCV004294189]uncertain significance75102516851025168Humanname
401765574CV2683349single nucleotide variantNM_015198.5(COBL):c.3205A>G (p.Lys1069Glu)not specified [RCV004288124]uncertain significance75102789151027891Humanname
401760721CV2706065single nucleotide variantNM_015198.5(COBL):c.3041G>A (p.Arg1014His)not specified [RCV004314760]likely benign75102805551028055Humanname
401775954CV2706828single nucleotide variantNM_015198.5(COBL):c.3067C>G (p.Pro1023Ala)not specified [RCV004321462]uncertain significance75102802951028029Humanname
401854403CV2777544single nucleotide variantNM_015198.5(COBL):c.3139G>A (p.Gly1047Ser)not specified [RCV004343402]likely benign75102795751027957Humanname
405675847CV3306832single nucleotide variantNM_015198.5(COBL):c.3095G>A (p.Cys1032Tyr)not specified [RCV004442399]uncertain significance75102800151028001Humanname
405675852CV3306833single nucleotide variantNM_015198.5(COBL):c.3103G>A (p.Glu1035Lys)not specified [RCV004442400]uncertain significance75102799351027993Humanname
405675857CV3306834single nucleotide variantNM_015198.5(COBL):c.3118T>G (p.Ser1040Ala)not specified [RCV004442401]uncertain significance75102797851027978Humanname
405675867CV3306836single nucleotide variantNM_015198.5(COBL):c.3388G>T (p.Ala1130Ser)not specified [RCV004442403]uncertain significance75102666251026662Humanname
405685897CV3306837single nucleotide variantNM_015198.5(COBL):c.3433G>A (p.Glu1145Lys)not specified [RCV004444387]uncertain significance75102661751026617Humanname
405685902CV3306838single nucleotide variantNM_015198.5(COBL):c.3544G>A (p.Asp1182Asn)not specified [RCV004444388]uncertain significance75102533351025333Humanname
405685907CV3306839single nucleotide variantNM_015198.5(COBL):c.3598C>T (p.Leu1200Phe)not specified [RCV004444389]uncertain significance75102527951025279Humanname
407471460CV3425923single nucleotide variantNM_015198.5(COBL):c.3014A>C (p.Glu1005Ala)not specified [RCV004615699]uncertain significance75102808251028082Humanname
597772328CV3650872single nucleotide variantNM_015198.5(COBL):c.3445G>A (p.Glu1149Lys)not specified [RCV004897324]uncertain significance75102660551026605Humanname
597772336CV3650874single nucleotide variantNM_015198.5(COBL):c.3703G>A (p.Ala1235Thr)not specified [RCV004897326]uncertain significance75102517451025174Humanname
597772352CV3650877single nucleotide variantNM_015198.5(COBL):c.3214G>A (p.Val1072Met)not specified [RCV004897329]likely benign75102788251027882Humanname
597772356CV3650878single nucleotide variantNM_015198.5(COBL):c.3320C>G (p.Thr1107Arg)not specified [RCV004897330]uncertain significance75102777651027776Humanname
597772361CV3650879single nucleotide variantNM_015198.5(COBL):c.3742G>A (p.Gly1248Ser)not specified [RCV004897331]uncertain significance75102513551025135Humanname
597772366CV3650881single nucleotide variantNM_015198.5(COBL):c.3373A>G (p.Arg1125Gly)not specified [RCV004897332]uncertain significance75102772351027723Humanname
597772381CV3650884single nucleotide variantNM_015198.5(COBL):c.3523G>C (p.Glu1175Gln)not specified [RCV004897335]uncertain significance75102535451025354Humanname
598259216CV3952074single nucleotide variantNM_015198.5(COBL):c.3049G>C (p.Asp1017His)not specified [RCV005324747]uncertain significance75102804751028047Humanname
598259221CV3952075single nucleotide variantNM_015198.5(COBL):c.3211A>G (p.Ser1071Gly)not specified [RCV005324748]uncertain significance75102788551027885Humanname
598259244CV3952079single nucleotide variantNM_015198.5(COBL):c.3316G>C (p.Asp1106His)not specified [RCV005324752]uncertain significance75102778051027780Humanname
598215832CV3952083single nucleotide variantNM_015198.5(COBL):c.3272C>T (p.Pro1091Leu)not specified [RCV005316826]uncertain significance75102782451027824Humanname
598215840CV3952084single nucleotide variantNM_015198.5(COBL):c.3483C>A (p.Ser1161Arg)not specified [RCV005316827]uncertain significance75102656751026567Humanname
156152936CV2307675single nucleotide variantNM_001365672.2(COBLL1):c.1225+1313C>Tnot specified [RCV004168089]uncertain significance2164703131164703131Humanname
156295836CV2321540single nucleotide variantNM_001365672.2(COBLL1):c.1225+1238G>Anot specified [RCV004177504]uncertain significance2164703206164703206Humanname
598215978CV3952101single nucleotide variantNM_001365672.2(COBLL1):c.1225+1266C>Tnot specified [RCV005316844]likely benign2164703178164703178Humanname
156045613CV2340189single nucleotide variantNM_001365672.2(COBLL1):c.29A>G (p.Asp10Gly)not specified [RCV004192423]uncertain significance2164841168164841168Humanname
405685986CV3306855single nucleotide variantNM_001365672.2(COBLL1):c.28G>A (p.Asp10Asn)not specified [RCV004444405]uncertain significance2164841169164841169Humanname
597772413CV3650892single nucleotide variantNM_001365672.2(COBLL1):c.70C>T (p.Pro24Ser)not specified [RCV004897342]uncertain significance2164743847164743847Humanname
598215928CV3952095single nucleotide variantNM_001365672.2(COBLL1):c.86A>G (p.Lys29Arg)not specified [RCV005316838]uncertain significance2164743831164743831Humanname
617152501CV4020745single nucleotide variantNM_001365672.2(COBLL1):c.513G>A (p.Glu171=)not provided [RCV005428498]likely benign2164728117164728117Humanname
156136595CV2196184single nucleotide variantNM_001365672.2(COBLL1):c.224A>G (p.His75Arg)not specified [RCV004073540]uncertain significance2164743693164743693Humanname
156007799CV2288372single nucleotide variantNM_001365672.2(COBLL1):c.170A>T (p.Asp57Val)not specified [RCV004151929]uncertain significance2164743747164743747Humanname
401863569CV2770715single nucleotide variantNM_001365672.2(COBLL1):c.295A>G (p.Thr99Ala)not specified [RCV004349759]uncertain significance2164730051164730051Humanname
401917006CV2819151single nucleotide variantNM_001365672.2(COBLL1):c.2400T>G (p.Pro800=)not provided [RCV003429336]likely benign2164694992164694992Humanname
407471520CV3425937single nucleotide variantNM_001365672.2(COBLL1):c.263G>C (p.Cys88Ser)not specified [RCV004615713]uncertain significance2164730083164730083Humanname
597772422CV3650894single nucleotide variantNM_001365672.2(COBLL1):c.143A>G (p.Glu48Gly)not specified [RCV004897344]uncertain significance2164743774164743774Humanname
156189511CV2375585single nucleotide variantNM_001365672.2(COBLL1):c.449T>C (p.Val150Ala)not specified [RCV004226073]uncertain significance2164728181164728181Humanname
155904013CV2385384single nucleotide variantNM_001365672.2(COBLL1):c.311C>T (p.Ser104Leu)not specified [RCV004231035]uncertain significance2164730035164730035Humanname
155907716CV2389959single nucleotide variantNM_001365672.2(COBLL1):c.977G>A (p.Ser326Asn)not specified [RCV004238211]uncertain significance2164722094164722094Humanname
329357738CV2427821single nucleotide variantNM_001365672.2(COBLL1):c.787G>A (p.Val263Ile)not specified [RCV004252597]likely benign2164722284164722284Humanname
329352963CV2468078single nucleotide variantNM_001365672.2(COBLL1):c.896C>T (p.Pro299Leu)not specified [RCV004275687]uncertain significance2164722175164722175Humanname
401781541CV2726556single nucleotide variantNM_001365672.2(COBLL1):c.592C>G (p.Pro198Ala)not specified [RCV004328733]uncertain significance2164728038164728038Humanname
401879734CV2755249single nucleotide variantNM_001365672.2(COBLL1):c.857C>T (p.Pro286Leu)not specified [RCV004337432]uncertain significance2164722214164722214Humanname
405686003CV3306858single nucleotide variantNM_001365672.2(COBLL1):c.379A>G (p.Ile127Val)not specified [RCV004444408]uncertain significance2164729967164729967Humanname
405686006CV3306859single nucleotide variantNM_001365672.2(COBLL1):c.551C>T (p.Pro184Leu)not specified [RCV004444409]uncertain significance2164728079164728079Humanname
405686012CV3306860single nucleotide variantNM_001365672.2(COBLL1):c.839A>G (p.Tyr280Cys)not specified [RCV004444410]uncertain significance2164722232164722232Humanname
405686017CV3306861single nucleotide variantNM_001365672.2(COBLL1):c.949C>T (p.Pro317Ser)not specified [RCV004444411]uncertain significance2164722122164722122Humanname
407471468CV3425925single nucleotide variantNM_001365672.2(COBLL1):c.304C>A (p.Leu102Met)not specified [RCV004615701]uncertain significance2164730042164730042Humanname
407471476CV3425927single nucleotide variantNM_001365672.2(COBLL1):c.992A>C (p.Asp331Ala)not specified [RCV004615703]uncertain significance2164722079164722079Humanname
407471481CV3425928single nucleotide variantNM_001365672.2(COBLL1):c.603G>C (p.Leu201Phe)not specified [RCV004615704]uncertain significance2164728027164728027Humanname
407471489CV3425930single nucleotide variantNM_001365672.2(COBLL1):c.943G>A (p.Glu315Lys)not specified [RCV004615706]uncertain significance2164722128164722128Humanname
407471493CV3425931single nucleotide variantNM_001365672.2(COBLL1):c.787G>C (p.Val263Leu)not specified [RCV004615707]uncertain significance2164722284164722284Humanname
407471531CV3425940single nucleotide variantNM_001365672.2(COBLL1):c.896C>G (p.Pro299Arg)not specified [RCV004615716]uncertain significance2164722175164722175Humanname
598215850CV3952085single nucleotide variantNM_001365672.2(COBLL1):c.692T>C (p.Ile231Thr)not specified [RCV005316828]uncertain significance2164722492164722492Humanname
598215882CV3952089single nucleotide variantNM_001365672.2(COBLL1):c.899T>A (p.Met300Lys)not specified [RCV005316832]uncertain significance2164722172164722172Humanname
598215984CV3952102single nucleotide variantNM_001365672.2(COBLL1):c.418C>T (p.Pro140Ser)not specified [RCV005316845]uncertain significance2164729928164729928Humanname
598215998CV3952104single nucleotide variantNM_001365672.2(COBLL1):c.413C>A (p.Pro138His)not specified [RCV005316847]uncertain significance2164729933164729933Humanname
598216037CV3952109single nucleotide variantNM_001365672.2(COBLL1):c.412C>G (p.Pro138Ala)not specified [RCV005316852]uncertain significance2164729934164729934Humanname
156142577CV2200024single nucleotide variantNM_001365672.2(COBLL1):c.1501A>C (p.Lys501Gln)not specified [RCV004074184]uncertain significance2164699459164699459Humanname
156082160CV2205413single nucleotide variantNM_001365672.2(COBLL1):c.1358A>T (p.Asn453Ile)not specified [RCV004082358]uncertain significance2164700624164700624Humanname
156382253CV2212665single nucleotide variantNM_001365672.2(COBLL1):c.2203A>G (p.Lys735Glu)not specified [RCV004085182]uncertain significance2164695189164695189Humanname
156281805CV2220635single nucleotide variantNM_001365672.2(COBLL1):c.2710G>A (p.Ala904Thr)not specified [RCV004097816]uncertain significance2164694682164694682Humanname
156040758CV2261324single nucleotide variantNM_001365672.2(COBLL1):c.1465C>G (p.Pro489Ala)not specified [RCV004129976]uncertain significance2164699495164699495Humanname
156033654CV2275146single nucleotide variantNM_001365672.2(COBLL1):c.1269G>T (p.Lys423Asn)not specified [RCV004136945]uncertain significance2164700713164700713Humanname
156276849CV2276898single nucleotide variantNM_001365672.2(COBLL1):c.2426C>T (p.Pro809Leu)not specified [RCV004140240]uncertain significance2164694966164694966Humanname
156278002CV2286690single nucleotide variantNM_001365672.2(COBLL1):c.2960C>T (p.Pro987Leu)not specified [RCV004142520]uncertain significance2164694432164694432Humanname
156009530CV2290899single nucleotide variantNM_001365672.2(COBLL1):c.1762G>A (p.Asp588Asn)not specified [RCV004151467]uncertain significance2164695630164695630Humanname
156008696CV2294262single nucleotide variantNM_001365672.2(COBLL1):c.2446G>A (p.Asp816Asn)not specified [RCV004149609]uncertain significance2164694946164694946Humanname
156203762CV2300759single nucleotide variantNM_001365672.2(COBLL1):c.1141C>T (p.Arg381Cys)not specified [RCV004155691]uncertain significance2164704961164704961Humanname
155967686CV2312752single nucleotide variantNM_001365672.2(COBLL1):c.1484A>T (p.Asp495Val)not specified [RCV004169472]uncertain significance2164699476164699476Humanname
156240289CV2350334single nucleotide variantNM_001365672.2(COBLL1):c.1516A>G (p.Ile506Val)not specified [RCV004202281]likely benign2164699444164699444Humanname
156120853CV2354206single nucleotide variantNM_001365672.2(COBLL1):c.1643G>A (p.Gly548Asp)not specified [RCV004206634]uncertain significance2164695749164695749Humanname
156385302CV2368242single nucleotide variantNM_001365672.2(COBLL1):c.2818G>A (p.Gly940Ser)not specified [RCV004219036]likely benign2164694574164694574Humanname
156148279CV2377314single nucleotide variantNM_001365672.2(COBLL1):c.2621G>C (p.Arg874Thr)not specified [RCV004225497]uncertain significance2164694771164694771Humanname
156046830CV2382361single nucleotide variantNM_001365672.2(COBLL1):c.2009C>T (p.Pro670Leu)not specified [RCV004230702]uncertain significance2164695383164695383Humanname
401737224CV2679258single nucleotide variantNM_001365672.2(COBLL1):c.2627C>T (p.Ser876Leu)not specified [RCV004285807]uncertain significance2164694765164694765Humanname
401781752CV2682178single nucleotide variantNM_001365672.2(COBLL1):c.2849C>A (p.Pro950His)not specified [RCV004290224]uncertain significance2164694543164694543Humanname
401734642CV2690641single nucleotide variantNM_001365672.2(COBLL1):c.1708A>C (p.Thr570Pro)not specified [RCV004298379]uncertain significance2164695684164695684Humanname
401740006CV2709767single nucleotide variantNM_001365672.2(COBLL1):c.1219A>G (p.Ser407Gly)not specified [RCV004320751]uncertain significance2164704450164704450Humanname
401742678CV2715291single nucleotide variantNM_001365672.2(COBLL1):c.1859A>G (p.His620Arg)not specified [RCV004324629]uncertain significance2164695533164695533Humanname
401781999CV2719129single nucleotide variantNM_001365672.2(COBLL1):c.1048A>G (p.Met350Val)not specified [RCV004324797]uncertain significance2164705054164705054Humanname
401772723CV2719739single nucleotide variantNM_001365672.2(COBLL1):c.2020A>G (p.Lys674Glu)not specified [RCV004329177]uncertain significance2164695372164695372Humanname
401728804CV2729817single nucleotide variantNM_001365672.2(COBLL1):c.2305A>C (p.Thr769Pro)not specified [RCV004332828]uncertain significance2164695087164695087Humanname
401874865CV2756102single nucleotide variantNM_001365672.2(COBLL1):c.1232T>G (p.Ile411Arg)not specified [RCV004338216]uncertain significance2164700750164700750Humanname
401888781CV2764698single nucleotide variantNM_001365672.2(COBLL1):c.1142G>A (p.Arg381His)not provided [RCV004711953]|not specified [RCV004334815]likely benign2164704960164704960Humanname
401891009CV2768904single nucleotide variantNM_001365672.2(COBLL1):c.2316T>A (p.Asn772Lys)not specified [RCV004347008]uncertain significance2164695076164695076Humanname
401890687CV2778293single nucleotide variantNM_001365672.2(COBLL1):c.1714A>G (p.Thr572Ala)not specified [RCV004350348]uncertain significance2164695678164695678Humanname
401894675CV2785164single nucleotide variantNM_001365672.2(COBLL1):c.1229G>A (p.Gly410Glu)not specified [RCV004355161]uncertain significance2164700753164700753Humanname
401883903CV2785799single nucleotide variantNM_001365672.2(COBLL1):c.1431A>T (p.Glu477Asp)not specified [RCV004365045]uncertain significance2164700551164700551Humanname
405685925CV3306843single nucleotide variantNM_001365672.2(COBLL1):c.1129G>C (p.Asp377His)not specified [RCV004444393]uncertain significance2164704973164704973Humanname
405685936CV3306845single nucleotide variantNM_001365672.2(COBLL1):c.1372G>T (p.Asp458Tyr)not specified [RCV004444395]uncertain significance2164700610164700610Humanname
405685942CV3306846single nucleotide variantNM_001365672.2(COBLL1):c.1493A>G (p.Asn498Ser)not specified [RCV004444396]uncertain significance2164699467164699467Humanname
405685946CV3306847single nucleotide variantNM_001365672.2(COBLL1):c.1887A>T (p.Glu629Asp)not specified [RCV004444397]uncertain significance2164695505164695505Humanname
405685952CV3306848single nucleotide variantNM_001365672.2(COBLL1):c.2038C>A (p.His680Asn)not specified [RCV004444398]uncertain significance2164695354164695354Humanname
405685957CV3306849single nucleotide variantNM_001365672.2(COBLL1):c.2197A>G (p.Thr733Ala)not specified [RCV004444399]uncertain significance2164695195164695195Humanname
405686594CV3306850single nucleotide variantNM_001365672.2(COBLL1):c.2198C>T (p.Thr733Ile)not specified [RCV004444400]uncertain significance2164695194164695194Humanname
405685972CV3306852single nucleotide variantNM_001365672.2(COBLL1):c.2575A>G (p.Asn859Asp)not specified [RCV004444402]uncertain significance2164694817164694817Humanname
405685976CV3306853single nucleotide variantNM_001365672.2(COBLL1):c.2671G>A (p.Ala891Thr)not specified [RCV004444403]uncertain significance2164694721164694721Humanname
405685981CV3306854single nucleotide variantNM_001365672.2(COBLL1):c.2719G>A (p.Asp907Asn)not specified [RCV004444404]uncertain significance2164694673164694673Humanname
407471464CV3425924single nucleotide variantNM_001365672.2(COBLL1):c.2686C>G (p.Pro896Ala)not specified [RCV004615700]uncertain significance2164694706164694706Humanname
407471485CV3425929single nucleotide variantNM_001365672.2(COBLL1):c.2143C>T (p.Pro715Ser)not specified [RCV004615705]uncertain significance2164695249164695249Humanname
407471498CV3425932single nucleotide variantNM_001365672.2(COBLL1):c.1847A>G (p.Lys616Arg)not specified [RCV004615708]uncertain significance2164695545164695545Humanname
407471503CV3425933single nucleotide variantNM_001365672.2(COBLL1):c.1217C>G (p.Ser406Cys)not specified [RCV004615709]uncertain significance2164704452164704452Humanname
407471507CV3425934single nucleotide variantNM_001365672.2(COBLL1):c.1196C>A (p.Ala399Glu)not specified [RCV004615710]uncertain significance2164704473164704473Humanname
407471527CV3425939single nucleotide variantNM_001365672.2(COBLL1):c.1954A>C (p.Asn652His)not specified [RCV004615715]uncertain significance2164695438164695438Humanname
597772408CV3650890single nucleotide variantNM_001365672.2(COBLL1):c.1397G>A (p.Gly466Asp)not specified [RCV004897341]likely benign2164700585164700585Humanname
597772418CV3650893single nucleotide variantNM_001365672.2(COBLL1):c.2495A>G (p.Asp832Gly)not specified [RCV004897343]uncertain significance2164694897164694897Humanname
597772427CV3650895single nucleotide variantNM_001365672.2(COBLL1):c.2207T>C (p.Ile736Thr)not specified [RCV004897345]uncertain significance2164695185164695185Humanname
597772431CV3660476single nucleotide variantNM_001365672.2(COBLL1):c.1120C>T (p.His374Tyr)not specified [RCV004897346]uncertain significance2164704982164704982Humanname
597772436CV3660477single nucleotide variantNM_001365672.2(COBLL1):c.2291T>C (p.Leu764Ser)not specified [RCV004897347]uncertain significance2164695101164695101Humanname
597772446CV3660479single nucleotide variantNM_001365672.2(COBLL1):c.2234C>T (p.Ser745Leu)not specified [RCV004897349]likely benign2164695158164695158Humanname
597772451CV3660481single nucleotide variantNM_001365672.2(COBLL1):c.1972A>G (p.Arg658Gly)not specified [RCV004897350]uncertain significance2164695420164695420Humanname
597772460CV3660483single nucleotide variantNM_001365672.2(COBLL1):c.1856A>G (p.Asp619Gly)not specified [RCV004897352]uncertain significance2164695536164695536Humanname
597772465CV3660484single nucleotide variantNM_001365672.2(COBLL1):c.2160A>T (p.Glu720Asp)not specified [RCV004897353]uncertain significance2164695232164695232Humanname
597772470CV3660485single nucleotide variantNM_001365672.2(COBLL1):c.2566C>T (p.Arg856Trp)not specified [RCV004897354]uncertain significance2164694826164694826Humanname
597772474CV3660486single nucleotide variantNM_001365672.2(COBLL1):c.1361C>T (p.Thr454Ile)not specified [RCV004897355]uncertain significance2164700621164700621Humanname
598215873CV3952088single nucleotide variantNM_001365672.2(COBLL1):c.1951G>C (p.Val651Leu)not specified [RCV005316831]uncertain significance2164695441164695441Humanname
598215890CV3952090single nucleotide variantNM_001365672.2(COBLL1):c.1985C>A (p.Thr662Asn)not specified [RCV005316833]uncertain significance2164695407164695407Humanname
598215897CV3952091single nucleotide variantNM_001365672.2(COBLL1):c.2017G>A (p.Val673Ile)not specified [RCV005316834]likely benign2164695375164695375Humanname
598215905CV3952092single nucleotide variantNM_001365672.2(COBLL1):c.2683G>C (p.Ala895Pro)not specified [RCV005316835]uncertain significance2164694709164694709Humanname
598215914CV3952093single nucleotide variantNM_001365672.2(COBLL1):c.2305A>G (p.Thr769Ala)not specified [RCV005316836]uncertain significance2164695087164695087Humanname
598215920CV3952094single nucleotide variantNM_001365672.2(COBLL1):c.2171A>C (p.Glu724Ala)not specified [RCV005316837]uncertain significance2164695221164695221Humanname
598215935CV3952096single nucleotide variantNM_001365672.2(COBLL1):c.1247G>A (p.Ser416Asn)not specified [RCV005316839]uncertain significance2164700735164700735Humanname
598215951CV3952098single nucleotide variantNM_001365672.2(COBLL1):c.1985C>T (p.Thr662Ile)not specified [RCV005316841]uncertain significance2164695407164695407Humanname
598215959CV3952099single nucleotide variantNM_001365672.2(COBLL1):c.1352T>C (p.Ile451Thr)not specified [RCV005316842]uncertain significance2164700630164700630Humanname
598215970CV3952100single nucleotide variantNM_001365672.2(COBLL1):c.2666A>T (p.His889Leu)not specified [RCV005316843]uncertain significance2164694726164694726Humanname
598215991CV3952103single nucleotide variantNM_001365672.2(COBLL1):c.2281A>G (p.Met761Val)not specified [RCV005316846]uncertain significance2164695111164695111Humanname
598216006CV3952105single nucleotide variantNM_001365672.2(COBLL1):c.1187C>T (p.Ala396Val)not specified [RCV005316848]likely benign2164704482164704482Humanname
598216013CV3952106single nucleotide variantNM_001365672.2(COBLL1):c.1424T>C (p.Met475Thr)not specified [RCV005316849]uncertain significance2164700558164700558Humanname
598216045CV3952110single nucleotide variantNM_001365672.2(COBLL1):c.2896C>G (p.Gln966Glu)not specified [RCV005316853]uncertain significance2164694496164694496Humanname
598216052CV3952111single nucleotide variantNM_001365672.2(COBLL1):c.2737G>C (p.Glu913Gln)not specified [RCV005316854]uncertain significance2164694655164694655Humanname
156308160CV2249475single nucleotide variantNM_001365672.2(COBLL1):c.3077C>A (p.Ser1026Tyr)not specified [RCV004120525]uncertain significance2164694315164694315Humanname
155976127CV2342739single nucleotide variantNM_001365672.2(COBLL1):c.2998A>C (p.Ser1000Arg)not specified [RCV004189785]uncertain significance2164694394164694394Humanname
401753064CV2725161single nucleotide variantNM_001365672.2(COBLL1):c.3205A>G (p.Ser1069Gly)not specified [RCV004319901]uncertain significance2164692316164692316Humanname
405685991CV3306856single nucleotide variantNM_001365672.2(COBLL1):c.3007C>T (p.Arg1003Cys)not specified [RCV004444406]uncertain significance2164694385164694385Humanname
405685996CV3306857single nucleotide variantNM_001365672.2(COBLL1):c.3014A>C (p.Glu1005Ala)not specified [RCV004444407]uncertain significance2164694378164694378Humanname
407471516CV3425936single nucleotide variantNM_001365672.2(COBLL1):c.3215C>T (p.Thr1072Ile)not specified [RCV004615712]uncertain significance2164692306164692306Humanname
407471524CV3425938single nucleotide variantNM_001365672.2(COBLL1):c.3089T>C (p.Phe1030Ser)not specified [RCV004615714]uncertain significance2164694303164694303Humanname
597772441CV3660478single nucleotide variantNM_001365672.2(COBLL1):c.3379G>A (p.Gly1127Ser)not specified [RCV004897348]uncertain significance2164685954164685954Humanname
597772455CV3660482single nucleotide variantNM_001365672.2(COBLL1):c.3371C>A (p.Ala1124Asp)not specified [RCV004897351]uncertain significance2164685962164685962Humanname
598215858CV3952086single nucleotide variantNM_001365672.2(COBLL1):c.3013G>A (p.Glu1005Lys)not specified [RCV005316829]likely benign2164694379164694379Humanname
598216021CV3952107single nucleotide variantNM_001365672.2(COBLL1):c.3172A>G (p.Thr1058Ala)not specified [RCV005316850]uncertain significance2164692349164692349Humanname