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212 records found for search term Ccs
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
152042662CV1670030single nucleotide variantNM_005125.2(CCS):c.567+1G>Cnot provided [RCV002224932]uncertain significance116660541766605417Humanname
405293551CV3214229single nucleotide variantNM_005125.2(CCS):c.279G>T (p.Leu93=)CCS-related disorder [RCV003931933]likely benign116659948766599487Humanname , trait , alternate_id
405275494CV3196229single nucleotide variantNM_005125.2(CCS):c.804G>A (p.Ala268=)CCS-related disorder [RCV003974101]benign116660583466605834Humanname , trait , alternate_id
405757199CV3303326single nucleotide variantNM_005125.2(CCS):c.89G>A (p.Arg30His)not specified [RCV004433012]uncertain significance116659369166593691Humanname
156359785CV2257946single nucleotide variantNM_005125.2(CCS):c.211C>T (p.Arg71Trp)not specified [RCV004129760]uncertain significance116659921466599214Humanname
405757168CV3303321single nucleotide variantNM_005125.2(CCS):c.206C>T (p.Thr69Met)not specified [RCV004433007]uncertain significance116659920966599209Humanname
407497529CV3428738single nucleotide variantNM_005125.2(CCS):c.107T>G (p.Val36Gly)not specified [RCV004606401]uncertain significance116659370966593709Humanname
156398726CV2194751single nucleotide variantNM_005125.2(CCS):c.778G>A (p.Ala260Thr)not specified [RCV004075300]uncertain significance116660580866605808Humanname
156029220CV2205952single nucleotide variantNM_005125.2(CCS):c.535G>A (p.Ala179Thr)not specified [RCV004078379]uncertain significance116660538466605384Humanname
155926052CV2287812single nucleotide variantNM_005125.2(CCS):c.349G>A (p.Gly117Arg)not specified [RCV004143256]uncertain significance116659955766599557Humanname
156145551CV2358747single nucleotide variantNM_005125.2(CCS):c.788G>C (p.Gly263Ala)not specified [RCV004209658]uncertain significance116660581866605818Humanname
155930357CV2361125single nucleotide variantNM_005125.2(CCS):c.307G>C (p.Val103Leu)not specified [RCV004216315]uncertain significance116659951566599515Humanname
156147800CV2394441single nucleotide variantNM_005125.2(CCS):c.775A>G (p.Ile259Val)not specified [RCV004240808]uncertain significance116660580566605805Humanname
155931835CV2399911single nucleotide variantNM_005125.2(CCS):c.449C>T (p.Pro150Leu)not specified [RCV004246852]uncertain significance116660050966600509Humanname
329375459CV2440935single nucleotide variantNM_005125.2(CCS):c.410T>C (p.Leu137Pro)not specified [RCV004261324]uncertain significance116659961866599618Humanname
401766132CV2718025single nucleotide variantNM_005125.2(CCS):c.626G>A (p.Arg209Gln)not specified [RCV004315753]uncertain significance116660554766605547Humanname
401762135CV2722654single nucleotide variantNM_005125.2(CCS):c.683G>C (p.Gly228Ala)not specified [RCV004325104]uncertain significance116660571366605713Humanname
401876533CV2782953single nucleotide variantNM_005125.2(CCS):c.716A>G (p.Asn239Ser)not specified [RCV004361748]uncertain significance116660574666605746Humanname
401895015CV2792682single nucleotide variantNM_005125.2(CCS):c.642A>C (p.Leu214Phe)not specified [RCV004365461]uncertain significance116660556366605563Humanname
401882211CV2793407single nucleotide variantNM_005125.2(CCS):c.778G>T (p.Ala260Ser)not specified [RCV004362503]uncertain significance116660580866605808Humanname
405757175CV3303322single nucleotide variantNM_005125.2(CCS):c.488G>T (p.Arg163Leu)not specified [RCV004433008]uncertain significance116660054866600548Humanname
405757181CV3303323single nucleotide variantNM_005125.2(CCS):c.557A>G (p.Glu186Gly)not specified [RCV004433009]uncertain significance116660540666605406Humanname
405757194CV3303325single nucleotide variantNM_005125.2(CCS):c.700G>A (p.Ala234Thr)not specified [RCV004433011]uncertain significance116660573066605730Humanname
597777117CV3638387single nucleotide variantNM_005125.2(CCS):c.517G>A (p.Ala173Thr)not specified [RCV004898675]uncertain significance116660536666605366Humanname
597762413CV3638388single nucleotide variantNM_005125.2(CCS):c.574G>A (p.Asp192Asn)not specified [RCV004895132]uncertain significance116660549566605495Humanname
597777121CV3638389single nucleotide variantNM_005125.2(CCS):c.636T>A (p.His212Gln)not specified [RCV004898676]uncertain significance116660555766605557Humanname
598205943CV3939925single nucleotide variantNM_005125.2(CCS):c.548T>C (p.Met183Thr)not specified [RCV005315023]uncertain significance116660539766605397Humanname
598205951CV3939926single nucleotide variantNM_005125.2(CCS):c.743G>C (p.Gly248Ala)not specified [RCV005315024]uncertain significance116660577366605773Humanname
598205957CV3939927single nucleotide variantNM_005125.2(CCS):c.791G>A (p.Arg264Gln)not specified [RCV005315025]uncertain significance116660582166605821Humanname
8569901CV45726single nucleotide variantNM_005125.2(CCS):c.487C>T (p.Arg163Trp)Neurodegeneration [RCV000030700]uncertain significance116660054766600547Human2name
8580146CV114552single nucleotide variantNM_001145065.1(CCSER1):c.-42+24499G>TLung cancer [RCV000095075]uncertain significance49015233090152330Humanname
8580148CV114554single nucleotide variantNM_001145065.1(CCSER1):c.2172+5638G>ALung cancer [RCV000095077]uncertain significance49092908590929085Humanname
8580147CV114553single nucleotide variantNM_001145065.1(CCSER1):c.2094+33501A>TLung cancer [RCV000095076]uncertain significance49084934690849346Humanname
8652365CV128940single nucleotide variantNM_001284240.1(CCSER2):c.2325+16278T>GLung cancer [RCV000109427]uncertain significance108449394284493942Humanname
156288179CV2229734single nucleotide variantNM_001284240.2(CCSER2):c.2326-13558C>Tnot specified [RCV004103534]uncertain significance108449989184499891Humanname
156204926CV2385127single nucleotide variantNM_001284240.2(CCSER2):c.2326-13543G>Tnot specified [RCV004228386]uncertain significance108449990684499906Humanname
401888507CV2785036single nucleotide variantNM_001284240.2(CCSER2):c.2326-13498G>Anot specified [RCV004355054]uncertain significance108449995184499951Humanname
401880878CV2789413single nucleotide variantNM_001284240.2(CCSER2):c.2326-13552T>Cnot specified [RCV004360053]uncertain significance108449989784499897Humanname
407497556CV3428743single nucleotide variantNM_001284240.2(CCSER2):c.2326-13535T>Gnot specified [RCV004606405]uncertain significance108449991484499914Humanname
8631324CV86485single nucleotide variantNM_001145065.1(CCSER1):c.2094+23163G>AMalignant melanoma [RCV000066576]not provided49083900890839008Humanname
8580149CV114555single nucleotide variantNM_001145065.1(CCSER1):c.2217+100371G>TLung cancer [RCV000095078]uncertain significance49118636591186365Humanname
156088478CV2241403single nucleotide variantNM_145257.5(CCSAP):c.41G>A (p.Arg14His)not specified [RCV004102532]uncertain significance1229342425229342425Humanname
597777123CV3638391single nucleotide variantNM_145257.5(CCSAP):c.74C>T (p.Pro25Leu)not specified [RCV004898677]uncertain significance1229342392229342392Humanname
156142305CV2383767single nucleotide variantNM_145257.5(CCSAP):c.212G>A (p.Gly71Asp)not specified [RCV004231645]uncertain significance1229342254229342254Humanname
156192533CV2388742single nucleotide variantNM_145257.5(CCSAP):c.196T>G (p.Ser66Ala)not specified [RCV004239607]uncertain significance1229342270229342270Humanname
329393584CV2453449single nucleotide variantNM_145257.5(CCSAP):c.109C>T (p.Arg37Cys)not specified [RCV004267053]uncertain significance1229342357229342357Humanname
597762405CV3638393single nucleotide variantNM_145257.5(CCSAP):c.175G>C (p.Glu59Gln)not specified [RCV004895134]uncertain significance1229342291229342291Humanname
598228545CV3939930single nucleotide variantNM_145257.5(CCSAP):c.151G>T (p.Asp51Tyr)not specified [RCV005319095]uncertain significance1229342315229342315Humanname
155987866CV2275717single nucleotide variantNM_145257.5(CCSAP):c.429C>A (p.Asp143Glu)not specified [RCV004137327]uncertain significance1229326945229326945Humanname
156101779CV2291404single nucleotide variantNM_145257.5(CCSAP):c.325G>C (p.Gly109Arg)not specified [RCV004155743]uncertain significance1229342141229342141Humanname
155983856CV2344354single nucleotide variantNM_145257.5(CCSAP):c.679G>A (p.Glu227Lys)not specified [RCV004195110]uncertain significance1229325369229325369Humanname
156172824CV2355115single nucleotide variantNM_145257.5(CCSAP):c.421G>C (p.Glu141Gln)not specified [RCV004198506]uncertain significance1229326953229326953Humanname
401759522CV2712524single nucleotide variantNM_145257.5(CCSAP):c.302C>T (p.Pro101Leu)not specified [RCV004307864]uncertain significance1229342164229342164Humanname
405757217CV3303328single nucleotide variantNM_145257.5(CCSAP):c.337G>A (p.Ala113Thr)not specified [RCV004433014]uncertain significance1229342129229342129Humanname
405757223CV3303329single nucleotide variantNM_145257.5(CCSAP):c.389A>G (p.Glu130Gly)not specified [RCV004433015]uncertain significance1229326985229326985Humanname
405757228CV3303330single nucleotide variantNM_145257.5(CCSAP):c.400G>A (p.Glu134Lys)not specified [RCV004433016]uncertain significance1229326974229326974Humanname
405757320CV3303343single nucleotide variantNM_001145065.2(CCSER1):c.7G>C (p.Asp3His)not specified [RCV004433029]uncertain significance49030829190308291Humanname
597762410CV3638390single nucleotide variantNM_145257.5(CCSAP):c.530T>C (p.Ile177Thr)not specified [RCV004895133]uncertain significance1229326844229326844Humanname
597777127CV3638392single nucleotide variantNM_145257.5(CCSAP):c.455G>A (p.Arg152Gln)not specified [RCV004898678]uncertain significance1229326919229326919Humanname
597777131CV3638394single nucleotide variantNM_145257.5(CCSAP):c.622G>A (p.Ala208Thr)not specified [RCV004898679]uncertain significance1229326752229326752Humanname
597762237CV3638395single nucleotide variantNM_145257.5(CCSAP):c.734A>G (p.Lys245Arg)not specified [RCV004895135]uncertain significance1229325314229325314Humanname
598228535CV3939928single nucleotide variantNM_145257.5(CCSAP):c.583G>A (p.Asp195Asn)not specified [RCV005319094]uncertain significance1229326791229326791Humanname
598205961CV3939929single nucleotide variantNM_145257.5(CCSAP):c.670A>G (p.Arg224Gly)not specified [RCV005315026]uncertain significance1229325378229325378Humanname
156293654CV2233565single nucleotide variantNM_001284240.2(CCSER2):c.26C>G (p.Thr9Arg)not specified [RCV004100040]uncertain significance108437107884371078Humanname
156277970CV2286686single nucleotide variantNM_001145065.2(CCSER1):c.40C>T (p.Arg14Trp)not specified [RCV004142518]uncertain significance49030832490308324Humanname
405757415CV3303358single nucleotide variantNM_001284240.2(CCSER2):c.65C>T (p.Ser22Phe)not specified [RCV004433044]uncertain significance108437111784371117Humanname
597777173CV3638409single nucleotide variantNM_001145065.2(CCSER1):c.92C>A (p.Ser31Tyr)not specified [RCV004898690]uncertain significance49030837690308376Humanname
597762269CV3638412single nucleotide variantNM_001284240.2(CCSER2):c.88A>G (p.Met30Val)not specified [RCV004895141]uncertain significance108437114084371140Humanname
8626860CV82004single nucleotide variantNM_018999.3(CCSER2):c.1017T>A (p.Asn339Lys)Malignant melanoma [RCV000062083]not provided108437206984372069Humanname
155988728CV2251242single nucleotide variantNM_001284240.2(CCSER2):c.245C>T (p.Pro82Leu)not specified [RCV004115464]uncertain significance108437129784371297Humanname
329368165CV2424206single nucleotide variantNM_001284240.2(CCSER2):c.151A>G (p.Ile51Val)not specified [RCV004250333]uncertain significance108437120384371203Humanname
329360057CV2458484single nucleotide variantNM_001145065.2(CCSER1):c.243G>C (p.Glu81Asp)not specified [RCV004268185]uncertain significance49030852790308527Humanname
401728631CV2672995single nucleotide variantNM_001284240.2(CCSER2):c.2400A>G (p.Gln800=)not specified [RCV004283994]likely benign108451352384513523Humanname
401928341CV2820034single nucleotide variantNM_001145065.2(CCSER1):c.1009T>C (p.Leu337=)not provided [RCV003439416]likely benign49030929390309293Humanname
405757242CV3303332single nucleotide variantNM_001145065.2(CCSER1):c.113C>T (p.Thr38Ile)not specified [RCV004433018]uncertain significance49030839790308397Humanname
405757347CV3303347single nucleotide variantNM_001284240.2(CCSER2):c.143A>G (p.Lys48Arg)not specified [RCV004433033]uncertain significance108437119584371195Humanname
407497569CV3428746single nucleotide variantNM_001284240.2(CCSER2):c.127A>G (p.Lys43Glu)not specified [RCV004606408]uncertain significance108437117984371179Humanname
597777139CV3638397single nucleotide variantNM_001145065.2(CCSER1):c.268T>G (p.Ser90Ala)not specified [RCV004898681]uncertain significance49030855290308552Humanname
597777143CV3638398single nucleotide variantNM_001145065.2(CCSER1):c.202A>G (p.Ile68Val)not specified [RCV004898682]uncertain significance49030848690308486Humanname
597777177CV3638413single nucleotide variantNM_001284240.2(CCSER2):c.145A>C (p.Ser49Arg)not specified [RCV004898691]uncertain significance108437119784371197Humanname
597762273CV3638414single nucleotide variantNM_001284240.2(CCSER2):c.249C>G (p.Asn83Lys)not specified [RCV004895142]uncertain significance108437130184371301Humanname
598205973CV3939932single nucleotide variantNM_001145065.2(CCSER1):c.154A>G (p.Ser52Gly)not specified [RCV005315028]uncertain significance49030843890308438Humanname
598206032CV3939943single nucleotide variantNM_001145065.2(CCSER1):c.263G>A (p.Ser88Asn)not specified [RCV005315037]uncertain significance49030854790308547Humanname
598206060CV3939947single nucleotide variantNM_001284240.2(CCSER2):c.174T>G (p.Cys58Trp)not specified [RCV005315041]uncertain significance108437122684371226Humanname
598206071CV3939949single nucleotide variantNM_001284240.2(CCSER2):c.271A>G (p.Lys91Glu)not specified [RCV005315043]uncertain significance108437132384371323Humanname
8631322CV86483single nucleotide variantNM_001145065.1(CCSER1):c.1749G>A (p.Lys583=)Malignant melanoma [RCV000066574]not provided49062804990628049Humanname
156397988CV2194078single nucleotide variantNM_001284240.2(CCSER2):c.703C>G (p.Pro235Ala)not specified [RCV004076838]uncertain significance108437175584371755Humanname
155918009CV2195637single nucleotide variantNM_001284240.2(CCSER2):c.500A>G (p.Asn167Ser)not specified [RCV004076004]likely benign108437155284371552Humanname
156247493CV2202891single nucleotide variantNM_001145065.2(CCSER1):c.680C>T (p.Ser227Leu)not specified [RCV004069166]uncertain significance49030896490308964Humanname
156241750CV2213993single nucleotide variantNM_001284240.2(CCSER2):c.946A>G (p.Arg316Gly)not specified [RCV004083710]uncertain significance108437199884371998Humanname
156091903CV2216693single nucleotide variantNM_001145065.2(CCSER1):c.862G>A (p.Gly288Ser)not specified [RCV004083146]uncertain significance49030914690309146Humanname
156115438CV2221441single nucleotide variantNM_001284240.2(CCSER2):c.710C>G (p.Ser237Cys)not specified [RCV004096730]uncertain significance108437176284371762Humanname
156224908CV2229930single nucleotide variantNM_001284240.2(CCSER2):c.773A>G (p.Gln258Arg)not specified [RCV004105471]uncertain significance108437182584371825Humanname
156384532CV2231111single nucleotide variantNM_001145065.2(CCSER1):c.974G>A (p.Arg325Lys)not specified [RCV004094328]uncertain significance49030925890309258Humanname
156155833CV2238297single nucleotide variantNM_001284240.2(CCSER2):c.385A>G (p.Thr129Ala)not specified [RCV004113375]uncertain significance108437143784371437Humanname
156392834CV2385401single nucleotide variantNM_001145065.2(CCSER1):c.757A>G (p.Thr253Ala)not specified [RCV004231048]uncertain significance49030904190309041Humanname
156053299CV2385517single nucleotide variantNM_001145065.2(CCSER1):c.377A>C (p.Lys126Thr)not specified [RCV004233161]uncertain significance49030866190308661Humanname
329375890CV2468893single nucleotide variantNM_001145065.2(CCSER1):c.713C>T (p.Ala238Val)not specified [RCV004280196]uncertain significance49030899790308997Humanname
401732630CV2675143single nucleotide variantNM_001284240.2(CCSER2):c.716C>T (p.Thr239Ile)not specified [RCV004289922]uncertain significance108437176884371768Humanname
401886227CV2771111single nucleotide variantNM_001145065.2(CCSER1):c.932C>T (p.Thr311Met)not specified [RCV004346115]likely benign49030921690309216Humanname
401890735CV2775609single nucleotide variantNM_001145065.2(CCSER1):c.938C>T (p.Thr313Ile)not specified [RCV004350764]uncertain significance49030922290309222Humanname
401898391CV2787849single nucleotide variantNM_001284240.2(CCSER2):c.841A>G (p.Asn281Asp)not specified [RCV004358530]uncertain significance108437189384371893Humanname
405757306CV3303341single nucleotide variantNM_001145065.2(CCSER1):c.361A>G (p.Ser121Gly)not specified [RCV004433027]uncertain significance49030864590308645Humanname
405757313CV3303342single nucleotide variantNM_001145065.2(CCSER1):c.710G>A (p.Arg237Gln)not specified [RCV004433028]uncertain significance49030899490308994Humanname
405757325CV3303344single nucleotide variantNM_001145065.2(CCSER1):c.932C>G (p.Thr311Arg)not specified [RCV004433030]uncertain significance49030921690309216Humanname
405757392CV3303354single nucleotide variantNM_001284240.2(CCSER2):c.374C>G (p.Ala125Gly)not specified [RCV004433040]uncertain significance108437142684371426Humanname
405757398CV3303355single nucleotide variantNM_001284240.2(CCSER2):c.379C>T (p.Pro127Ser)not specified [RCV004433041]uncertain significance108437143184371431Humanname
405757402CV3303356single nucleotide variantNM_001284240.2(CCSER2):c.568G>A (p.Ala190Thr)not specified [RCV004433042]uncertain significance108437162084371620Humanname
405757407CV3303357single nucleotide variantNM_001284240.2(CCSER2):c.620C>A (p.Pro207Gln)not specified [RCV004433043]uncertain significance108437167284371672Humanname
405757425CV3303359single nucleotide variantNM_001284240.2(CCSER2):c.842A>G (p.Asn281Ser)not specified [RCV004433045]uncertain significance108437189484371894Humanname
405757431CV3303360single nucleotide variantNM_001284240.2(CCSER2):c.934A>G (p.Thr312Ala)not specified [RCV004433046]uncertain significance108437198684371986Humanname
407497581CV3424805single nucleotide variantNM_001284240.2(CCSER2):c.610G>A (p.Ala204Thr)not specified [RCV004606411]uncertain significance108437166284371662Humanname
407454621CV3428740single nucleotide variantNM_001145065.2(CCSER1):c.322C>T (p.His108Tyr)not specified [RCV004609921]uncertain significance49030860690308606Humanname
407497573CV3428747single nucleotide variantNM_001284240.2(CCSER2):c.679T>A (p.Ser227Thr)not specified [RCV004606409]uncertain significance108437173184371731Humanname
597762243CV3638401single nucleotide variantNM_001145065.2(CCSER1):c.458G>A (p.Ser153Asn)not specified [RCV004895136]uncertain significance49030874290308742Humanname
597777165CV3638407single nucleotide variantNM_001145065.2(CCSER1):c.511C>T (p.Arg171Cys)not specified [RCV004898688]uncertain significance49030879590308795Humanname
597777169CV3638408single nucleotide variantNM_001145065.2(CCSER1):c.371A>G (p.Asn124Ser)not specified [RCV004898689]uncertain significance49030865590308655Humanname
597762258CV3638410single nucleotide variantNM_001145065.2(CCSER1):c.439G>A (p.Val147Ile)not specified [RCV004895139]uncertain significance49030872390308723Humanname
597777183CV3638418single nucleotide variantNM_001284240.2(CCSER2):c.677A>T (p.His226Leu)not specified [RCV004898693]uncertain significance108437172984371729Humanname
597777187CV3638419single nucleotide variantNM_001284240.2(CCSER2):c.307G>C (p.Gly103Arg)not specified [RCV004898694]uncertain significance108437135984371359Humanname
598205999CV3939936single nucleotide variantNM_001145065.2(CCSER1):c.551C>G (p.Ser184Cys)not specified [RCV005315032]uncertain significance49030883590308835Humanname
598206012CV3939939single nucleotide variantNM_001145065.2(CCSER1):c.512G>A (p.Arg171His)not specified [RCV005315034]uncertain significance49030879690308796Humanname
598206019CV3939940single nucleotide variantNM_001145065.2(CCSER1):c.946T>G (p.Cys316Gly)not specified [RCV005315035]uncertain significance49030923090309230Humanname
598206046CV3939945single nucleotide variantNM_001284240.2(CCSER2):c.862T>C (p.Tyr288His)not specified [RCV005315039]uncertain significance108437191484371914Humanname
598206054CV3939946single nucleotide variantNM_001284240.2(CCSER2):c.838C>G (p.Leu280Val)not specified [RCV005315040]uncertain significance108437189084371890Humanname
598206089CV3939952single nucleotide variantNM_001284240.2(CCSER2):c.961T>A (p.Ser321Thr)not specified [RCV005315046]uncertain significance108437201384372013Humanname
156066582CV2193357single nucleotide variantNM_001284240.2(CCSER2):c.1406T>C (p.Ile469Thr)not specified [RCV004072861]uncertain significance108437245884372458Humanname
156068092CV2193683single nucleotide variantNM_001284240.2(CCSER2):c.1274A>G (p.Asn425Ser)not specified [RCV004074279]uncertain significance108437232684372326Humanname
156073114CV2201384single nucleotide variantNM_001145065.2(CCSER1):c.2510A>C (p.Glu837Ala)not specified [RCV004077504]uncertain significance49159886491598864Humanname
156399190CV2204969single nucleotide variantNM_001284240.2(CCSER2):c.1727G>A (p.Arg576His)not specified [RCV004077591]uncertain significance108442575284425752Humanname
156189613CV2205953single nucleotide variantNM_001284240.2(CCSER2):c.2033A>G (p.Gln678Arg)not specified [RCV004078380]uncertain significance108443867684438676Humanname
155942078CV2229434single nucleotide variantNM_001284240.2(CCSER2):c.1016A>C (p.Asn339Thr)not specified [RCV004101207]uncertain significance108437206884372068Humanname
156283993CV2231110single nucleotide variantNM_001145065.2(CCSER1):c.2464C>T (p.Arg822Trp)not specified [RCV004094327]uncertain significance49159881891598818Humanname
155920486CV2240370single nucleotide variantNM_001145065.2(CCSER1):c.2664C>A (p.His888Gln)not specified [RCV004117274]uncertain significance49159901891599018Humanname
156077672CV2248134single nucleotide variantNM_001145065.2(CCSER1):c.2594A>G (p.Gln865Arg)not specified [RCV004117538]uncertain significance49159894891598948Humanname
156080111CV2259314single nucleotide variantNM_001145065.2(CCSER1):c.1568T>G (p.Leu523Arg)not specified [RCV004122326]uncertain significance49040009490400094Humanname
155965151CV2261746single nucleotide variantNM_001284240.2(CCSER2):c.1589A>G (p.Tyr530Cys)not specified [RCV004126039]uncertain significance108437379084373790Humanname
156178131CV2287906single nucleotide variantNM_001145065.2(CCSER1):c.2630G>T (p.Ser877Ile)not specified [RCV004147690]uncertain significance49159898491598984Humanname
156148996CV2292875single nucleotide variantNM_001145065.2(CCSER1):c.1474A>G (p.Arg492Gly)not specified [RCV004148382]uncertain significance49031301290313012Humanname
156349543CV2305642single nucleotide variantNM_001284240.2(CCSER2):c.1677T>A (p.Asp559Glu)not specified [RCV004165646]uncertain significance108441783384417833Humanname
156063191CV2316741single nucleotide variantNM_001145065.2(CCSER1):c.1649T>C (p.Val550Ala)not specified [RCV004171963]uncertain significance49046827990468279Humanname
156155640CV2328802single nucleotide variantNM_001284240.2(CCSER2):c.1298A>G (p.Glu433Gly)not specified [RCV004178026]uncertain significance108437235084372350Humanname
156186996CV2332685single nucleotide variantNM_001145065.2(CCSER1):c.2467G>A (p.Ala823Thr)not specified [RCV004189362]uncertain significance49159882191598821Humanname
156244709CV2347180single nucleotide variantNM_001145065.2(CCSER1):c.1837A>C (p.Asn613His)not specified [RCV004204653]uncertain significance49062813790628137Humanname
156402597CV2361758single nucleotide variantNM_001145065.2(CCSER1):c.1319C>T (p.Ala440Val)not specified [RCV004223233]uncertain significance49030960390309603Humanname
155932545CV2364415single nucleotide variantNM_001145065.2(CCSER1):c.1910A>G (p.Lys637Arg)not specified [RCV004223625]uncertain significance49062821090628210Humanname
155985730CV2368152single nucleotide variantNM_001284240.2(CCSER2):c.1726C>T (p.Arg576Cys)not specified [RCV004216497]uncertain significance108442575184425751Humanname
156385025CV2371672single nucleotide variantNM_001145065.2(CCSER1):c.1982C>T (p.Pro661Leu)not specified [RCV004216910]uncertain significance49072396390723963Humanname
156347962CV2383015single nucleotide variantNM_001284240.2(CCSER2):c.1000A>G (p.Met334Val)not specified [RCV004217600]uncertain significance108437205284372052Humanname
156348355CV2384941single nucleotide variantNM_001284240.2(CCSER2):c.2407G>A (p.Glu803Lys)not specified [RCV004226177]uncertain significance108451353084513530Humanname
156215071CV2385964single nucleotide variantNM_001284240.2(CCSER2):c.1321C>T (p.His441Tyr)not specified [RCV004229040]uncertain significance108437237384372373Humanname
156258069CV2395326single nucleotide variantNM_001284240.2(CCSER2):c.1891C>A (p.Pro631Thr)not specified [RCV004239422]uncertain significance108443853484438534Humanname
156003329CV2399650single nucleotide variantNM_001145065.2(CCSER1):c.2555C>T (p.Thr852Met)not specified [RCV004244165]likely benign49159890991598909Humanname
329375254CV2431434single nucleotide variantNM_001284240.2(CCSER2):c.1838A>G (p.Tyr613Cys)not specified [RCV004254599]uncertain significance108442586384425863Humanname
329390624CV2437138single nucleotide variantNM_001145065.2(CCSER1):c.2270A>G (p.Lys757Arg)not specified [RCV004262945]uncertain significance49159862491598624Humanname
329365206CV2440140single nucleotide variantNM_001145065.2(CCSER1):c.2168A>G (p.Tyr723Cys)not specified [RCV004260602]uncertain significance49092344390923443Humanname
329398850CV2442978single nucleotide variantNM_001284240.2(CCSER2):c.1340A>G (p.Gln447Arg)not specified [RCV004253571]uncertain significance108437239284372392Humanname
329354629CV2444579single nucleotide variantNM_001145065.2(CCSER1):c.2189G>T (p.Arg730Ile)not specified [RCV004256802]uncertain significance49108596691085966Humanname
329362302CV2444580single nucleotide variantNM_001145065.2(CCSER1):c.2190A>T (p.Arg730Ser)not specified [RCV004256803]uncertain significance49108596791085967Humanname
329368592CV2450373single nucleotide variantNM_001284240.2(CCSER2):c.2341C>T (p.Pro781Ser)not specified [RCV004271446]uncertain significance108451346484513464Humanname
329351854CV2455394single nucleotide variantNM_001284240.2(CCSER2):c.1777A>G (p.Lys593Glu)not specified [RCV004274886]uncertain significance108442580284425802Humanname
401721468CV2673726single nucleotide variantNM_001145065.2(CCSER1):c.2280T>G (p.His760Gln)not specified [RCV004282452]uncertain significance49159863491598634Humanname
401749707CV2694720single nucleotide variantNM_001145065.2(CCSER1):c.2509G>A (p.Glu837Lys)not specified [RCV004298810]uncertain significance49159886391598863Humanname
401732243CV2708738single nucleotide variantNM_001145065.2(CCSER1):c.1069G>A (p.Ala357Thr)not specified [RCV004307707]uncertain significance49030935390309353Humanname
401765418CV2712710single nucleotide variantNM_001284240.2(CCSER2):c.1768G>A (p.Gly590Ser)not specified [RCV004308018]uncertain significance108442579384425793Humanname
401780060CV2725850single nucleotide variantNM_001145065.2(CCSER1):c.1751A>G (p.Asp584Gly)not specified [RCV004316311]uncertain significance49062805190628051Humanname
401768705CV2735399single nucleotide variantNM_001145065.2(CCSER1):c.1436A>G (p.Asp479Gly)not specified [RCV004334051]uncertain significance49031297490312974Humanname
401887077CV2775590single nucleotide variantNM_001145065.2(CCSER1):c.1736T>C (p.Leu579Pro)not specified [RCV004350749]uncertain significance49062803690628036Humanname
401880375CV2780059single nucleotide variantNM_001284240.2(CCSER2):c.2172A>G (p.Ile724Met)not specified [RCV004355724]uncertain significance108447039584470395Humanname
401894560CV2788428single nucleotide variantNM_001145065.2(CCSER1):c.2512G>A (p.Gly838Arg)not specified [RCV004354956]uncertain significance49159886691598866Humanname
405757234CV3303331single nucleotide variantNM_001145065.2(CCSER1):c.1013C>T (p.Pro338Leu)not specified [RCV004433017]uncertain significance49030929790309297Humanname
405757249CV3303333single nucleotide variantNM_001145065.2(CCSER1):c.1298A>G (p.His433Arg)not specified [RCV004433019]uncertain significance49030958290309582Humanname
405757257CV3303334single nucleotide variantNM_001145065.2(CCSER1):c.1351C>T (p.Arg451Cys)not specified [RCV004433020]uncertain significance49031288990312889Humanname
405757269CV3303336single nucleotide variantNM_001145065.2(CCSER1):c.1765G>C (p.Ala589Pro)not specified [RCV004433022]uncertain significance49062806590628065Humanname
405757277CV3303337single nucleotide variantNM_001145065.2(CCSER1):c.1934G>A (p.Ser645Asn)not specified [RCV004433023]uncertain significance49072391590723915Humanname
405757295CV3303339single nucleotide variantNM_001145065.2(CCSER1):c.2264A>G (p.Asp755Gly)not specified [RCV004433025]uncertain significance49159861891598618Humanname
405757301CV3303340single nucleotide variantNM_001145065.2(CCSER1):c.2602A>G (p.Arg868Gly)not specified [RCV004433026]uncertain significance49159895691598956Humanname
405757339CV3303346single nucleotide variantNM_001284240.2(CCSER2):c.1316A>C (p.Glu439Ala)not specified [RCV004433032]uncertain significance108437236884372368Humanname
405757360CV3303349single nucleotide variantNM_001284240.2(CCSER2):c.1681C>T (p.Pro561Ser)not specified [RCV004433035]uncertain significance108441783784417837Humanname
405757365CV3303350single nucleotide variantNM_001284240.2(CCSER2):c.1736G>A (p.Arg579Gln)not specified [RCV004433036]uncertain significance108442576184425761Humanname
405757371CV3303351single nucleotide variantNM_001284240.2(CCSER2):c.1753C>T (p.Arg585Trp)not specified [RCV004433037]uncertain significance108442577884425778Humanname
405757377CV3303352single nucleotide variantNM_001284240.2(CCSER2):c.1810C>A (p.His604Asn)not specified [RCV004433038]uncertain significance108442583584425835Humanname
405757387CV3303353single nucleotide variantNM_001284240.2(CCSER2):c.1928T>C (p.Phe643Ser)not specified [RCV004433039]uncertain significance108443857184438571Humanname
407497577CV3424804single nucleotide variantNM_001284240.2(CCSER2):c.2246A>T (p.His749Leu)not specified [RCV004606410]uncertain significance108447758584477585Humanname
407497544CV3428741single nucleotide variantNM_001145065.2(CCSER1):c.2372G>A (p.Ser791Asn)not specified [RCV004606403]uncertain significance49159872691598726Humanname
407497550CV3428742single nucleotide variantNM_001145065.2(CCSER1):c.1187T>G (p.Phe396Cys)not specified [RCV004606404]uncertain significance49030947190309471Humanname
407497560CV3428744single nucleotide variantNM_001284240.2(CCSER2):c.2395C>T (p.Pro799Ser)not specified [RCV004606406]uncertain significance108451351884513518Humanname
407497564CV3428745single nucleotide variantNM_001284240.2(CCSER2):c.2188G>A (p.Glu730Lys)not specified [RCV004606407]uncertain significance108447041184470411Humanname
597777147CV3638399single nucleotide variantNM_001145065.2(CCSER1):c.1619C>T (p.Ser540Leu)not specified [RCV004898683]uncertain significance49046824990468249Humanname
597777151CV3638400single nucleotide variantNM_001145065.2(CCSER1):c.2596C>A (p.Pro866Thr)not specified [RCV004898684]uncertain significance49159895091598950Humanname
597777153CV3638402single nucleotide variantNM_001145065.2(CCSER1):c.1500G>A (p.Met500Ile)not specified [RCV004898685]uncertain significance49031303890313038Humanname
597762247CV3638403single nucleotide variantNM_001145065.2(CCSER1):c.1738A>G (p.Lys580Glu)not specified [RCV004895137]uncertain significance49062803890628038Humanname
597777157CV3638404single nucleotide variantNM_001145065.2(CCSER1):c.2296C>T (p.Arg766Cys)not specified [RCV004898686]uncertain significance49159865091598650Humanname
597777161CV3638405single nucleotide variantNM_001145065.2(CCSER1):c.2119G>C (p.Ala707Pro)not specified [RCV004898687]uncertain significance49092339490923394Humanname
597762263CV3638411single nucleotide variantNM_001284240.2(CCSER2):c.2413C>T (p.Arg805Cys)not specified [RCV004895140]uncertain significance108451353684513536Humanname
597777179CV3638415single nucleotide variantNM_001284240.2(CCSER2):c.1676A>G (p.Asp559Gly)not specified [RCV004898692]uncertain significance108441783284417832Humanname
597762279CV3638416single nucleotide variantNM_001284240.2(CCSER2):c.2138A>G (p.Lys713Arg)not specified [RCV004895143]uncertain significance108446400684464006Humanname
597777191CV3638420single nucleotide variantNM_001284240.2(CCSER2):c.1891C>G (p.Pro631Ala)not specified [RCV004898695]uncertain significance108443853484438534Humanname
598205967CV3939931single nucleotide variantNM_001145065.2(CCSER1):c.2118G>C (p.Lys706Asn)not specified [RCV005315027]uncertain significance49092339390923393Humanname
598205987CV3939934single nucleotide variantNM_001145065.2(CCSER1):c.1753G>A (p.Val585Ile)not specified [RCV005315030]likely benign49062805390628053Humanname
598205993CV3939935single nucleotide variantNM_001145065.2(CCSER1):c.2095G>A (p.Gly699Arg)not specified [RCV005315031]uncertain significance49092337090923370Humanname
598228552CV3939937single nucleotide variantNM_001145065.2(CCSER1):c.2483G>A (p.Ser828Asn)not specified [RCV005319096]likely benign49159883791598837Humanname
598206006CV3939938single nucleotide variantNM_001145065.2(CCSER1):c.1973C>T (p.Pro658Leu)not specified [RCV005315033]uncertain significance49072395490723954Humanname
598206026CV3939941single nucleotide variantNM_001145065.2(CCSER1):c.1906T>G (p.Leu636Val)not specified [RCV005315036]uncertain significance49062820690628206Humanname
598228562CV3939942single nucleotide variantNM_001145065.2(CCSER1):c.1153A>G (p.Met385Val)not specified [RCV005319097]uncertain significance49030943790309437Humanname
598206039CV3939944single nucleotide variantNM_001145065.2(CCSER1):c.2347T>C (p.Cys783Arg)not specified [RCV005315038]uncertain significance49159870191598701Humanname
598206078CV3939950single nucleotide variantNM_001284240.2(CCSER2):c.1744A>G (p.Arg582Gly)not specified [RCV005315044]uncertain significance108442576984425769Humanname
598206082CV3939951single nucleotide variantNM_001284240.2(CCSER2):c.1514A>G (p.Asp505Gly)not specified [RCV005315045]uncertain significance108437371584373715Humanname
598206096CV3939953single nucleotide variantNM_001284240.2(CCSER2):c.2318G>A (p.Arg773Gln)not specified [RCV005315047]uncertain significance108447765784477657Humanname
15113804CV709521single nucleotide variantNM_001145065.2(CCSER1):c.2201T>C (p.Val734Ala)not provided [RCV000961558]benign49108597891085978Humanname
8631321CV86482single nucleotide variantNM_001145065.1(CCSER1):c.1183G>A (p.Gly395Arg)Malignant melanoma [RCV000066573]not provided49030946790309467Humanname
8631323CV86484single nucleotide variantNM_001145065.1(CCSER1):c.1848A>G (p.Ile616Met)Malignant melanoma [RCV000066575]not provided49062814890628148Humanname