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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


276 records found for search term Cep350
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156248311CV2203092single nucleotide variantNM_014810.5(CEP350):c.59A>G (p.Lys20Arg)not specified [RCV004069337]uncertain significance1179986240179986240Humanname
405776978CV3296883single nucleotide variantNM_014810.5(CEP350):c.50C>T (p.Ser17Phe)not specified [RCV004436276]uncertain significance1179986231179986231Humanname
598209338CV3947839single nucleotide variantNM_014810.5(CEP350):c.56G>C (p.Ser19Thr)not specified [RCV005315670]uncertain significance1179986237179986237Humanname
156181561CV2338131single nucleotide variantNM_014810.5(CEP350):c.296G>A (p.Arg99Gln)not specified [RCV004184162]uncertain significance1179992122179992122Humanname
401721701CV2710113single nucleotide variantNM_014810.5(CEP350):c.115G>A (p.Ala39Thr)not specified [RCV004315167]uncertain significance1179987281179987281Humanname
401906290CV2806202single nucleotide variantNM_014810.5(CEP350):c.1998A>G (p.Leu666=)not provided [RCV003421236]likely benign1180014451180014451Humanname
405776849CV3296863single nucleotide variantNM_014810.5(CEP350):c.271C>G (p.Pro91Ala)not specified [RCV004436256]uncertain significance1179992097179992097Humanname
407469158CV3428944single nucleotide variantNM_014810.5(CEP350):c.121C>G (p.Leu41Val)not specified [RCV004614942]uncertain significance1179990507179990507Humanname
156195371CV2223424single nucleotide variantNM_014810.5(CEP350):c.449A>G (p.His150Arg)not specified [RCV004106006]uncertain significance1179996606179996606Humanname
156024926CV2242181single nucleotide variantNM_014810.5(CEP350):c.373C>G (p.Arg125Gly)not specified [RCV004109394]uncertain significance1179992199179992199Humanname
155906557CV2279305single nucleotide variantNM_014810.5(CEP350):c.655A>G (p.Met219Val)not specified [RCV004139823]likely benign1179996812179996812Humanname
156357219CV2318259single nucleotide variantNM_014810.5(CEP350):c.598C>G (p.Arg200Gly)not specified [RCV004179436]uncertain significance1179996755179996755Humanname
155968378CV2337837single nucleotide variantNM_014810.5(CEP350):c.565A>G (p.Ile189Val)not specified [RCV004183848]uncertain significance1179996722179996722Humanname
329368514CV2428046single nucleotide variantNM_014810.5(CEP350):c.536G>A (p.Cys179Tyr)not specified [RCV004254422]uncertain significance1179996693179996693Humanname
401727686CV2678411single nucleotide variantNM_014810.5(CEP350):c.361C>T (p.Arg121Cys)not specified [RCV004292436]uncertain significance1179992187179992187Humanname
401723089CV2703609single nucleotide variantNM_014810.5(CEP350):c.356A>C (p.Asn119Thr)not specified [RCV004317775]uncertain significance1179992182179992182Humanname
401906291CV2806203single nucleotide variantNM_014810.5(CEP350):c.3825A>G (p.Ser1275=)not provided [RCV003421237]likely benign1180033961180033961Humanname
401906292CV2806204single nucleotide variantNM_014810.5(CEP350):c.4281G>T (p.Leu1427=)not provided [RCV003421238]likely benign1180041721180041721Humanname
401906293CV2806205single nucleotide variantNM_014810.5(CEP350):c.6484C>T (p.Leu2162=)not provided [RCV003421239]likely benign1180090772180090772Humanname
401906294CV2806206single nucleotide variantNM_014810.5(CEP350):c.8682C>T (p.Thr2894=)not provided [RCV003421240]likely benign1180095693180095693Humanname
401906295CV2806207single nucleotide variantNM_014810.5(CEP350):c.8985A>G (p.Gln2995=)not provided [RCV003421241]likely benign1180096103180096103Humanname
405776889CV3296869single nucleotide variantNM_014810.5(CEP350):c.346G>A (p.Val116Met)not specified [RCV004436262]uncertain significance1179992172179992172Humanname
405777123CV3296906single nucleotide variantNM_014810.5(CEP350):c.886T>C (p.Ser296Pro)not specified [RCV004436299]uncertain significance1179997043179997043Humanname
407469189CV3428954single nucleotide variantNM_014810.5(CEP350):c.548G>A (p.Ser183Asn)not specified [RCV004614952]uncertain significance1179996705179996705Humanname
407469198CV3428957single nucleotide variantNM_014810.5(CEP350):c.722A>G (p.Asn241Ser)not specified [RCV004614955]likely benign1179996879179996879Humanname
407469220CV3428964single nucleotide variantNM_014810.5(CEP350):c.784A>G (p.Thr262Ala)not specified [RCV004614962]uncertain significance1179996941179996941Humanname
407469226CV3428966single nucleotide variantNM_014810.5(CEP350):c.791C>T (p.Thr264Ile)not specified [RCV004614964]uncertain significance1179996948179996948Humanname
597780841CV3652897single nucleotide variantNM_014810.5(CEP350):c.935C>A (p.Pro312Gln)not specified [RCV004899612]uncertain significance1179997092179997092Humanname
597780893CV3652910single nucleotide variantNM_014810.5(CEP350):c.985G>A (p.Val329Met)not specified [RCV004899625]uncertain significance1179997142179997142Humanname
597780897CV3652911single nucleotide variantNM_014810.5(CEP350):c.374G>A (p.Arg125His)not specified [RCV004899626]uncertain significance1179992200179992200Humanname
598209243CV3947818single nucleotide variantNM_014810.5(CEP350):c.662C>G (p.Thr221Ser)not specified [RCV005315651]uncertain significance1179996819179996819Humanname
598209252CV3947820single nucleotide variantNM_014810.5(CEP350):c.689A>G (p.Lys230Arg)not specified [RCV005315653]uncertain significance1179996846179996846Humanname
598209282CV3947826single nucleotide variantNM_014810.5(CEP350):c.472G>A (p.Glu158Lys)not specified [RCV005315659]uncertain significance1179996629179996629Humanname
598209318CV3947834single nucleotide variantNM_014810.5(CEP350):c.535T>C (p.Cys179Arg)not specified [RCV005315666]uncertain significance1179996692179996692Humanname
8629133CV84278single nucleotide variantNM_014810.4(CEP350):c.6072C>T (p.Ser2024=)Malignant melanoma [RCV000064360]not provided1180080609180080609Humanname
8629135CV84280single nucleotide variantNM_014810.4(CEP350):c.8242C>T (p.Leu2748=)Malignant melanoma [RCV000064362]not provided1180094347180094347Humanname
156333562CV2214618single nucleotide variantNM_014810.5(CEP350):c.2156C>T (p.Pro719Leu)not specified [RCV004090452]uncertain significance1180015952180015952Humanname
155966400CV2216664single nucleotide variantNM_014810.5(CEP350):c.2975G>A (p.Ser992Asn)not specified [RCV004083120]uncertain significance1180020749180020749Humanname
156380624CV2218850single nucleotide variantNM_014810.5(CEP350):c.1270T>A (p.Ser424Thr)not specified [RCV004085091]uncertain significance1180011952180011952Humanname
156195360CV2223423single nucleotide variantNM_014810.5(CEP350):c.2033A>G (p.His678Arg)not specified [RCV004106005]uncertain significance1180014486180014486Humanname
156092028CV2256633single nucleotide variantNM_014810.5(CEP350):c.1232C>T (p.Thr411Ile)not specified [RCV004118817]uncertain significance1180006553180006553Humanname
155968038CV2261950single nucleotide variantNM_014810.5(CEP350):c.2666T>A (p.Phe889Tyr)not specified [RCV004126446]uncertain significance1180020440180020440Humanname
156054412CV2269579single nucleotide variantNM_014810.5(CEP350):c.1558A>C (p.Asn520His)not specified [RCV004124679]uncertain significance1180014011180014011Humanname
156032169CV2274993single nucleotide variantNM_014810.5(CEP350):c.1506G>T (p.Lys502Asn)not specified [RCV004135038]uncertain significance1180013959180013959Humanname
156244652CV2283364single nucleotide variantNM_014810.5(CEP350):c.1268C>G (p.Thr423Arg)not specified [RCV004146018]uncertain significance1180011950180011950Humanname
156184748CV2294898single nucleotide variantNM_014810.5(CEP350):c.1370G>A (p.Gly457Glu)not specified [RCV004156051]uncertain significance1180012052180012052Humanname
155973995CV2333265single nucleotide variantNM_014810.5(CEP350):c.1435G>A (p.Val479Ile)not specified [RCV004196595]uncertain significance1180013888180013888Humanname
156284689CV2334783single nucleotide variantNM_014810.5(CEP350):c.1238G>A (p.Cys413Tyr)not specified [RCV004188757]uncertain significance1180006559180006559Humanname
156290607CV2342666single nucleotide variantNM_014810.5(CEP350):c.1192C>G (p.Pro398Ala)not specified [RCV004196748]uncertain significance1180006513180006513Humanname
156284961CV2349058single nucleotide variantNM_014810.5(CEP350):c.1576A>G (p.Ile526Val)not specified [RCV004205498]likely benign1180014029180014029Humanname
156110907CV2353296single nucleotide variantNM_014810.5(CEP350):c.1000C>T (p.Pro334Ser)not specified [RCV004205771]uncertain significance1179997157179997157Humanname
156159531CV2361558single nucleotide variantNM_014810.5(CEP350):c.1736A>G (p.Asn579Ser)not specified [RCV004221189]uncertain significance1180014189180014189Humanname
156133563CV2361883single nucleotide variantNM_014810.5(CEP350):c.2575A>G (p.Thr859Ala)not specified [RCV004207658]uncertain significance1180020349180020349Humanname
156177226CV2374505single nucleotide variantNM_014810.5(CEP350):c.1179G>C (p.Lys393Asn)not specified [RCV004232008]uncertain significance1180006500180006500Humanname
156261383CV2381335single nucleotide variantNM_014810.5(CEP350):c.2651A>T (p.Asp884Val)not specified [RCV004227393]uncertain significance1180020425180020425Humanname
156190302CV2384969single nucleotide variantNM_014810.5(CEP350):c.2767C>T (p.Pro923Ser)not specified [RCV004226197]uncertain significance1180020541180020541Humanname
155958605CV2395220single nucleotide variantNM_014810.5(CEP350):c.2315A>G (p.His772Arg)not specified [RCV004236886]uncertain significance1180020089180020089Humanname
156260182CV2395532single nucleotide variantNM_014810.5(CEP350):c.2749A>T (p.Ser917Cys)not specified [RCV004241391]uncertain significance1180020523180020523Humanname
329398174CV2464834single nucleotide variantNM_014810.5(CEP350):c.2705C>T (p.Ser902Phe)not specified [RCV004284782]uncertain significance1180020479180020479Humanname
401722067CV2706355single nucleotide variantNM_014810.5(CEP350):c.2048C>T (p.Thr683Ile)not specified [RCV004317200]uncertain significance1180014501180014501Humanname
401738462CV2711898single nucleotide variantNM_014810.5(CEP350):c.2674A>G (p.Arg892Gly)not specified [RCV004309520]uncertain significance1180020448180020448Humanname
401892517CV2782122single nucleotide variantNM_014810.5(CEP350):c.1514C>G (p.Ala505Gly)not specified [RCV004359112]uncertain significance1180013967180013967Humanname
401871262CV2783461single nucleotide variantNM_014810.5(CEP350):c.1139T>C (p.Ile380Thr)not specified [RCV004365803]uncertain significance1180006460180006460Humanname
401879837CV2788528single nucleotide variantNM_014810.5(CEP350):c.1759A>G (p.Lys587Glu)not specified [RCV004359503]uncertain significance1180014212180014212Humanname
405776780CV3296852single nucleotide variantNM_014810.5(CEP350):c.1486C>T (p.Arg496Trp)not specified [RCV004436245]uncertain significance1180013939180013939Humanname
405776787CV3296853single nucleotide variantNM_014810.5(CEP350):c.1775A>G (p.Asp592Gly)not specified [RCV004436246]uncertain significance1180014228180014228Humanname
405776793CV3296854single nucleotide variantNM_014810.5(CEP350):c.1777A>G (p.Thr593Ala)not specified [RCV004436247]uncertain significance1180014230180014230Humanname
405776799CV3296855single nucleotide variantNM_014810.5(CEP350):c.1793A>G (p.Gln598Arg)not specified [RCV004436248]uncertain significance1180014246180014246Humanname
405776805CV3296856single nucleotide variantNM_014810.5(CEP350):c.1804A>G (p.Arg602Gly)not specified [RCV004436249]uncertain significance1180014257180014257Humanname
405776811CV3296857single nucleotide variantNM_014810.5(CEP350):c.2260A>G (p.Thr754Ala)not specified [RCV004436250]uncertain significance1180020034180020034Humanname
405776818CV3296858single nucleotide variantNM_014810.5(CEP350):c.2395T>C (p.Tyr799His)not specified [RCV004436251]uncertain significance1180020169180020169Humanname
405776830CV3296860single nucleotide variantNM_014810.5(CEP350):c.2419A>G (p.Thr807Ala)not specified [RCV004436253]uncertain significance1180020193180020193Humanname
405776837CV3296861single nucleotide variantNM_014810.5(CEP350):c.2523T>G (p.Ser841Arg)not specified [RCV004436254]uncertain significance1180020297180020297Humanname
405776844CV3296862single nucleotide variantNM_014810.5(CEP350):c.2592G>T (p.Gln864His)not specified [RCV004436255]uncertain significance1180020366180020366Humanname
405776855CV3296864single nucleotide variantNM_014810.5(CEP350):c.2723A>C (p.Asp908Ala)not specified [RCV004436257]uncertain significance1180020497180020497Humanname
407469146CV3428940single nucleotide variantNM_014810.5(CEP350):c.1441C>T (p.His481Tyr)not specified [RCV004614938]uncertain significance1180013894180013894Humanname
407469155CV3428943single nucleotide variantNM_014810.5(CEP350):c.1798A>G (p.Ile600Val)not specified [RCV004614941]uncertain significance1180014251180014251Humanname
407469204CV3428959single nucleotide variantNM_014810.5(CEP350):c.1183G>A (p.Val395Ile)not specified [RCV004614957]uncertain significance1180006504180006504Humanname
407469242CV3428971single nucleotide variantNM_014810.5(CEP350):c.2783C>A (p.Pro928Gln)not specified [RCV004614969]uncertain significance1180020557180020557Humanname
597780778CV3652880single nucleotide variantNM_014810.5(CEP350):c.2470C>G (p.Arg824Gly)not specified [RCV004899595]uncertain significance1180020244180020244Humanname
597780786CV3652882single nucleotide variantNM_014810.5(CEP350):c.1849G>C (p.Ala617Pro)not specified [RCV004899597]uncertain significance1180014302180014302Humanname
597780812CV3652889single nucleotide variantNM_014810.5(CEP350):c.2636C>T (p.Pro879Leu)not specified [RCV004899604]uncertain significance1180020410180020410Humanname
597780831CV3652894single nucleotide variantNM_014810.5(CEP350):c.1514C>T (p.Ala505Val)not specified [RCV004899609]uncertain significance1180013967180013967Humanname
597780865CV3652903single nucleotide variantNM_014810.5(CEP350):c.1255C>A (p.His419Asn)not specified [RCV004899618]uncertain significance1180011937180011937Humanname
597780870CV3652904single nucleotide variantNM_014810.5(CEP350):c.1318G>A (p.Ala440Thr)not specified [RCV004899619]uncertain significance1180012000180012000Humanname
597780872CV3652905single nucleotide variantNM_014810.5(CEP350):c.2488G>A (p.Ala830Thr)not specified [RCV004899620]uncertain significance1180020262180020262Humanname
597780903CV3652913single nucleotide variantNM_014810.5(CEP350):c.1658A>G (p.Asn553Ser)not specified [RCV004899628]uncertain significance1180014111180014111Humanname
597780912CV3652915single nucleotide variantNM_014810.5(CEP350):c.1327A>G (p.Met443Val)not specified [RCV004899630]uncertain significance1180012009180012009Humanname
597780916CV3652916single nucleotide variantNM_014810.5(CEP350):c.1772A>C (p.Tyr591Ser)not specified [RCV004899631]uncertain significance1180014225180014225Humanname
597780919CV3652917single nucleotide variantNM_014810.5(CEP350):c.2249C>A (p.Pro750His)not specified [RCV004899632]uncertain significance1180020023180020023Humanname
598209204CV3947808single nucleotide variantNM_014810.5(CEP350):c.1817A>C (p.Glu606Ala)not specified [RCV005315644]uncertain significance1180014270180014270Humanname
598209215CV3947812single nucleotide variantNM_014810.5(CEP350):c.2002A>G (p.Lys668Glu)not specified [RCV005315646]uncertain significance1180014455180014455Humanname
598209269CV3947823single nucleotide variantNM_014810.5(CEP350):c.2179G>A (p.Asp727Asn)not specified [RCV005315656]uncertain significance1180019953180019953Humanname
598241800CV3947833single nucleotide variantNM_014810.5(CEP350):c.1487G>A (p.Arg496Gln)not specified [RCV005321609]uncertain significance1180013940180013940Humanname
598209322CV3947835single nucleotide variantNM_014810.5(CEP350):c.1373G>T (p.Arg458Ile)not specified [RCV005315667]uncertain significance1180012055180012055Humanname
598209327CV3947836single nucleotide variantNM_014810.5(CEP350):c.1374A>C (p.Arg458Ser)not specified [RCV005315668]uncertain significance1180012056180012056Humanname
598241805CV3947838single nucleotide variantNM_014810.5(CEP350):c.1747C>T (p.Pro583Ser)not specified [RCV005321610]uncertain significance1180014200180014200Humanname
598209355CV3947842single nucleotide variantNM_014810.5(CEP350):c.1129G>A (p.Ala377Thr)not specified [RCV005315673]uncertain significance1180003284180003284Humanname
598241810CV3947845single nucleotide variantNM_014810.5(CEP350):c.2021C>T (p.Pro674Leu)not specified [RCV005321611]uncertain significance1180014474180014474Humanname
15171475CV706902single nucleotide variantNM_014810.5(CEP350):c.1565A>G (p.Asp522Gly)not provided [RCV000972207]benign1180014018180014018Humanname
8629132CV84277single nucleotide variantNM_014810.4(CEP350):c.2221C>T (p.Pro741Ser)Malignant melanoma [RCV000064359]not provided1180019995180019995Humanname
156174119CV2194401single nucleotide variantNM_014810.5(CEP350):c.5830A>G (p.Ile1944Val)not specified [RCV004079503]uncertain significance1180078525180078525Humanname
156265870CV2198696single nucleotide variantNM_014810.5(CEP350):c.4402G>A (p.Val1468Met)not specified [RCV004075706]likely benign1180043095180043095Humanname
156142151CV2199992single nucleotide variantNM_014810.5(CEP350):c.4159G>C (p.Ala1387Pro)not specified [RCV004074155]uncertain significance1180041186180041186Humanname
156319163CV2200470single nucleotide variantNM_014810.5(CEP350):c.3949T>C (p.Ser1317Pro)not specified [RCV004078828]uncertain significance1180036928180036928Humanname
156166480CV2200915single nucleotide variantNM_014810.5(CEP350):c.5542A>G (p.Lys1848Glu)not specified [RCV004081531]uncertain significance1180065247180065247Humanname
156263934CV2201204single nucleotide variantNM_014810.5(CEP350):c.3715C>T (p.His1239Tyr)not specified [RCV004077348]uncertain significance1180031484180031484Humanname
155914957CV2203889single nucleotide variantNM_014810.5(CEP350):c.3434A>G (p.Tyr1145Cys)not specified [RCV004069941]uncertain significance1180024466180024466Humanname
156043855CV2237557single nucleotide variantNM_014810.5(CEP350):c.5883A>G (p.Ile1961Met)not specified [RCV004106498]uncertain significance1180078578180078578Humanname
156301752CV2241668single nucleotide variantNM_014810.5(CEP350):c.4187G>A (p.Arg1396Lys)not specified [RCV004104829]uncertain significance1180041214180041214Humanname
156153152CV2245478single nucleotide variantNM_014810.5(CEP350):c.4817A>G (p.Tyr1606Cys)not specified [RCV004109256]uncertain significance1180052994180052994Humanname
156073856CV2248135single nucleotide variantNM_014810.5(CEP350):c.5133G>T (p.Glu1711Asp)not specified [RCV004117539]uncertain significance1180053893180053893Humanname
156086508CV2249408single nucleotide variantNM_014810.5(CEP350):c.6538G>C (p.Val2180Leu)not specified [RCV004120198]uncertain significance1180092643180092643Humanname
156206520CV2249964single nucleotide variantNM_014810.5(CEP350):c.3392C>T (p.Thr1131Ile)not specified [RCV004122933]uncertain significance1180024424180024424Humanname
156218053CV2253918single nucleotide variantNM_014810.5(CEP350):c.5873C>T (p.Ser1958Phe)not specified [RCV004127598]uncertain significance1180078568180078568Humanname
156335711CV2272989single nucleotide variantNM_014810.5(CEP350):c.8059G>C (p.Asp2687His)not specified [RCV004137653]uncertain significance1180094164180094164Humanname
155956908CV2281989single nucleotide variantNM_014810.5(CEP350):c.7117A>G (p.Ile2373Val)not specified [RCV004138751]uncertain significance1180093222180093222Humanname
155998527CV2296091single nucleotide variantNM_014810.5(CEP350):c.8209T>C (p.Ser2737Pro)not specified [RCV004154026]uncertain significance1180094314180094314Humanname
156196201CV2306703single nucleotide variantNM_014810.5(CEP350):c.7760G>A (p.Arg2587Gln)not specified [RCV004159294]likely benign1180093865180093865Humanname
155964826CV2308427single nucleotide variantNM_014810.5(CEP350):c.6464C>T (p.Ser2155Leu)not specified [RCV004166725]uncertain significance1180090752180090752Humanname
155965327CV2308491single nucleotide variantNM_014810.5(CEP350):c.5117A>G (p.Glu1706Gly)not specified [RCV004166777]uncertain significance1180053877180053877Humanname
155959152CV2313878single nucleotide variantNM_014810.5(CEP350):c.7184A>G (p.Asp2395Gly)not specified [RCV004164194]uncertain significance1180093289180093289Humanname
156058284CV2316884single nucleotide variantNM_014810.5(CEP350):c.8498T>A (p.Met2833Lys)not specified [RCV004174408]uncertain significance1180094603180094603Humanname
156169849CV2317105single nucleotide variantNM_014810.5(CEP350):c.8837G>A (p.Ser2946Asn)not specified [RCV004174585]uncertain significance1180095848180095848Humanname
156067984CV2317959single nucleotide variantNM_014810.5(CEP350):c.8471A>G (p.Glu2824Gly)not specified [RCV004177081]uncertain significance1180094576180094576Humanname
156051601CV2323353single nucleotide variantNM_014810.5(CEP350):c.7741G>T (p.Asp2581Tyr)not specified [RCV004171759]uncertain significance1180093846180093846Humanname
156355372CV2324473single nucleotide variantNM_014810.5(CEP350):c.6749G>C (p.Gly2250Ala)not specified [RCV004178957]uncertain significance1180092854180092854Humanname
156190535CV2339597single nucleotide variantNM_014810.5(CEP350):c.9029G>A (p.Arg3010Gln)not specified [RCV004196308]uncertain significance1180096147180096147Humanname
156071354CV2365299single nucleotide variantNM_014810.5(CEP350):c.3118C>A (p.Pro1040Thr)not specified [RCV004209390]uncertain significance1180020892180020892Humanname
156256750CV2369194single nucleotide variantNM_014810.5(CEP350):c.3839C>T (p.Ser1280Leu)not specified [RCV004208115]uncertain significance1180033975180033975Humanname
156049064CV2370728single nucleotide variantNM_014810.5(CEP350):c.6487G>A (p.Glu2163Lys)not specified [RCV004209129]uncertain significance1180090775180090775Humanname
156166124CV2373562single nucleotide variantNM_014810.5(CEP350):c.7864G>A (p.Asp2622Asn)not specified [RCV004222662]uncertain significance1180093969180093969Humanname
156257906CV2383644single nucleotide variantNM_014810.5(CEP350):c.4444C>T (p.Arg1482Trp)not specified [RCV004229534]uncertain significance1180043137180043137Humanname
156191433CV2385226single nucleotide variantNM_014810.5(CEP350):c.8902A>G (p.Lys2968Glu)not specified [RCV004228472]uncertain significance1180095913180095913Humanname
156263806CV2388894single nucleotide variantNM_014810.5(CEP350):c.6196T>C (p.Ser2066Pro)not specified [RCV004241899]uncertain significance1180084089180084089Humanname
156085005CV2390491single nucleotide variantNM_014810.5(CEP350):c.5464A>G (p.Thr1822Ala)not specified [RCV004239029]uncertain significance1180065169180065169Humanname
156189908CV2390962single nucleotide variantNM_014810.5(CEP350):c.3154G>A (p.Gly1052Arg)not specified [RCV004234967]uncertain significance1180020928180020928Humanname
329382230CV2424376single nucleotide variantNM_014810.5(CEP350):c.3849G>A (p.Met1283Ile)not specified [RCV004252277]uncertain significance1180033985180033985Humanname
329360543CV2443611single nucleotide variantNM_014810.5(CEP350):c.4934A>T (p.His1645Leu)not specified [RCV004262432]uncertain significance1180053111180053111Humanname
329355545CV2445535single nucleotide variantNM_014810.5(CEP350):c.8447T>G (p.Phe2816Cys)not specified [RCV004257586]uncertain significance1180094552180094552Humanname
329352392CV2452956single nucleotide variantNM_014810.5(CEP350):c.5555G>A (p.Arg1852His)not specified [RCV004277586]uncertain significance1180065260180065260Humanname
329385184CV2454794single nucleotide variantNM_014810.5(CEP350):c.7836T>A (p.Phe2612Leu)not specified [RCV004270017]uncertain significance1180093941180093941Humanname
329360293CV2458575single nucleotide variantNM_014810.5(CEP350):c.3286G>A (p.Ala1096Thr)not specified [RCV004268259]uncertain significance1180022748180022748Humanname
329378050CV2459075single nucleotide variantNM_014810.5(CEP350):c.8822G>T (p.Gly2941Val)not specified [RCV004272540]uncertain significance1180095833180095833Humanname
401736118CV2672827single nucleotide variantNM_014810.5(CEP350):c.7336A>G (p.Ile2446Val)not specified [RCV004281603]likely benign1180093441180093441Humanname
401727069CV2684455single nucleotide variantNM_014810.5(CEP350):c.5302C>T (p.Arg1768Trp)not specified [RCV004291528]uncertain significance1180062259180062259Humanname
401747796CV2689012single nucleotide variantNM_014810.5(CEP350):c.6679C>T (p.Pro2227Ser)not specified [RCV004305792]uncertain significance1180092784180092784Humanname
401745232CV2693212single nucleotide variantNM_014810.5(CEP350):c.6603T>G (p.Asp2201Glu)not specified [RCV004293140]uncertain significance1180092708180092708Humanname
401762242CV2699570single nucleotide variantNM_014810.5(CEP350):c.3236G>A (p.Gly1079Glu)not specified [RCV004299767]uncertain significance1180022698180022698Humanname
401758427CV2704508single nucleotide variantNM_014810.5(CEP350):c.8965G>A (p.Glu2989Lys)not specified [RCV004313247]uncertain significance1180096083180096083Humanname
401758830CV2705171single nucleotide variantNM_014810.5(CEP350):c.6626T>A (p.Leu2209His)not specified [RCV004310062]uncertain significance1180092731180092731Humanname
401761016CV2706184single nucleotide variantNM_014810.5(CEP350):c.8150C>T (p.Thr2717Ile)not specified [RCV004314863]uncertain significance1180094255180094255Humanname
401738911CV2708215single nucleotide variantNM_014810.5(CEP350):c.4341C>G (p.Asp1447Glu)not specified [RCV004311569]uncertain significance1180041781180041781Humanname
401776966CV2721550single nucleotide variantNM_014810.5(CEP350):c.7328G>A (p.Ser2443Asn)not specified [RCV004316065]uncertain significance1180093433180093433Humanname
401783533CV2723678single nucleotide variantNM_014810.5(CEP350):c.8054C>G (p.Thr2685Ser)not specified [RCV004325851]uncertain significance1180094159180094159Humanname
401883594CV2754492single nucleotide variantNM_014810.5(CEP350):c.6184C>T (p.Arg2062Trp)not specified [RCV004336700]uncertain significance1180084077180084077Humanname
401874712CV2756010single nucleotide variantNM_014810.5(CEP350):c.8905A>G (p.Arg2969Gly)not specified [RCV004338137]uncertain significance1180095916180095916Humanname
401883988CV2761204single nucleotide variantNM_014810.5(CEP350):c.6707A>G (p.Asn2236Ser)not specified [RCV004341086]uncertain significance1180092812180092812Humanname
401888920CV2765073single nucleotide variantNM_014810.5(CEP350):c.4262G>A (p.Arg1421Gln)not specified [RCV004337190]uncertain significance1180041702180041702Humanname
401870537CV2769285single nucleotide variantNM_014810.5(CEP350):c.6904G>A (p.Asp2302Asn)not specified [RCV004357292]uncertain significance1180093009180093009Humanname
401863774CV2773300single nucleotide variantNM_014810.5(CEP350):c.9046A>G (p.Asn3016Asp)not specified [RCV004353967]uncertain significance1180096164180096164Humanname
401863498CV2776944single nucleotide variantNM_014810.5(CEP350):c.3331G>A (p.Val1111Ile)not specified [RCV004351756]uncertain significance1180022793180022793Humanname
401876322CV2789357single nucleotide variantNM_014810.5(CEP350):c.7014G>T (p.Met2338Ile)not specified [RCV004365374]uncertain significance1180093119180093119Humanname
405776861CV3296865single nucleotide variantNM_014810.5(CEP350):c.3002A>T (p.Asp1001Val)not specified [RCV004436258]uncertain significance1180020776180020776Humanname
405776870CV3296866single nucleotide variantNM_014810.5(CEP350):c.3218A>G (p.Tyr1073Cys)not specified [RCV004436259]uncertain significance1180020992180020992Humanname
405776876CV3296867single nucleotide variantNM_014810.5(CEP350):c.3274C>T (p.Arg1092Trp)not specified [RCV004436260]uncertain significance1180022736180022736Humanname
405776881CV3296868single nucleotide variantNM_014810.5(CEP350):c.3316T>A (p.Tyr1106Asn)not specified [RCV004436261]uncertain significance1180022778180022778Humanname
405776895CV3296870single nucleotide variantNM_014810.5(CEP350):c.3658G>A (p.Val1220Ile)not specified [RCV004436263]uncertain significance1180031427180031427Humanname
405776901CV3296871single nucleotide variantNM_014810.5(CEP350):c.3674A>G (p.Gln1225Arg)not specified [RCV004436264]uncertain significance1180031443180031443Humanname
405776913CV3296873single nucleotide variantNM_014810.5(CEP350):c.3709T>G (p.Ser1237Ala)not specified [RCV004436266]uncertain significance1180031478180031478Humanname
405776919CV3296874single nucleotide variantNM_014810.5(CEP350):c.3731C>T (p.Ser1244Leu)not specified [RCV004436267]uncertain significance1180033867180033867Humanname
405776926CV3296875single nucleotide variantNM_014810.5(CEP350):c.3772C>G (p.Leu1258Val)not specified [RCV004436268]uncertain significance1180033908180033908Humanname
405776933CV3296876single nucleotide variantNM_014810.5(CEP350):c.3808G>A (p.Val1270Ile)not specified [RCV004436269]uncertain significance1180033944180033944Humanname
405776939CV3296877single nucleotide variantNM_014810.5(CEP350):c.3908C>G (p.Ala1303Gly)not specified [RCV004436270]uncertain significance1180034044180034044Humanname
405776944CV3296878single nucleotide variantNM_014810.5(CEP350):c.4160C>T (p.Ala1387Val)not specified [RCV004436271]uncertain significance1180041187180041187Humanname
405776951CV3296879single nucleotide variantNM_014810.5(CEP350):c.4337C>T (p.Thr1446Ile)not specified [RCV004436272]uncertain significance1180041777180041777Humanname
405776957CV3296880single nucleotide variantNM_014810.5(CEP350):c.4387A>G (p.Ile1463Val)not specified [RCV004436273]uncertain significance1180043080180043080Humanname
405776966CV3296881single nucleotide variantNM_014810.5(CEP350):c.4604A>G (p.Tyr1535Cys)not specified [RCV004436274]uncertain significance1180044155180044155Humanname
405776972CV3296882single nucleotide variantNM_014810.5(CEP350):c.4643G>A (p.Arg1548His)not specified [RCV004436275]uncertain significance1180048556180048556Humanname
405776984CV3296884single nucleotide variantNM_014810.5(CEP350):c.5161G>C (p.Glu1721Gln)not specified [RCV004436277]uncertain significance1180053921180053921Humanname
405776991CV3296885single nucleotide variantNM_014810.5(CEP350):c.5440A>C (p.Asn1814His)not specified [RCV004436278]uncertain significance1180065145180065145Humanname
405776997CV3296886single nucleotide variantNM_014810.5(CEP350):c.5479C>T (p.Arg1827Cys)not specified [RCV004436279]uncertain significance1180065184180065184Humanname
405777004CV3296887single nucleotide variantNM_014810.5(CEP350):c.5485C>T (p.Pro1829Ser)not specified [RCV004436280]uncertain significance1180065190180065190Humanname
405777010CV3296888single nucleotide variantNM_014810.5(CEP350):c.5878T>C (p.Ser1960Pro)not specified [RCV004436281]uncertain significance1180078573180078573Humanname
405777021CV3296890single nucleotide variantNM_014810.5(CEP350):c.5900G>C (p.Gly1967Ala)not specified [RCV004436283]uncertain significance1180078595180078595Humanname
405777026CV3296891single nucleotide variantNM_014810.5(CEP350):c.5902A>C (p.Ser1968Arg)not specified [RCV004436284]uncertain significance1180078597180078597Humanname
405777033CV3296892single nucleotide variantNM_014810.5(CEP350):c.5957C>A (p.Ser1986Tyr)not specified [RCV004436285]uncertain significance1180078652180078652Humanname
405777040CV3296893single nucleotide variantNM_014810.5(CEP350):c.6434C>T (p.Thr2145Met)not specified [RCV004436286]uncertain significance1180090722180090722Humanname
405777046CV3296894single nucleotide variantNM_014810.5(CEP350):c.6437C>A (p.Ala2146Glu)not specified [RCV004436287]uncertain significance1180090725180090725Humanname
405777066CV3296897single nucleotide variantNM_014810.5(CEP350):c.6630A>C (p.Arg2210Ser)not specified [RCV004436290]uncertain significance1180092735180092735Humanname
405777072CV3296898single nucleotide variantNM_014810.5(CEP350):c.6667C>A (p.Leu2223Ile)not specified [RCV004436291]uncertain significance1180092772180092772Humanname
405777086CV3296900single nucleotide variantNM_014810.5(CEP350):c.7582G>A (p.Gly2528Arg)not specified [RCV004436293]uncertain significance1180093687180093687Humanname
405777094CV3296901single nucleotide variantNM_014810.5(CEP350):c.7868T>C (p.Ile2623Thr)not specified [RCV004436294]likely benign1180093973180093973Humanname
405777100CV3296902single nucleotide variantNM_014810.5(CEP350):c.8048A>C (p.Asp2683Ala)not specified [RCV004436295]uncertain significance1180094153180094153Humanname
405777105CV3296903single nucleotide variantNM_014810.5(CEP350):c.8184C>A (p.Asn2728Lys)not specified [RCV004436296]uncertain significance1180094289180094289Humanname
405777111CV3296904single nucleotide variantNM_014810.5(CEP350):c.8245G>A (p.Glu2749Lys)not specified [RCV004436297]uncertain significance1180094350180094350Humanname
405777117CV3296905single nucleotide variantNM_014810.5(CEP350):c.8738T>C (p.Leu2913Ser)not specified [RCV004436298]uncertain significance1180095749180095749Humanname
405777129CV3296907single nucleotide variantNM_014810.5(CEP350):c.8887A>G (p.Ile2963Val)not specified [RCV004436300]uncertain significance1180095898180095898Humanname
405777135CV3296908single nucleotide variantNM_014810.5(CEP350):c.8985A>C (p.Gln2995His)not specified [RCV004436301]uncertain significance1180096103180096103Humanname
405777142CV3296909single nucleotide variantNM_014810.5(CEP350):c.9197A>G (p.Glu3066Gly)not specified [RCV004436302]uncertain significance1180111004180111004Humanname
405777148CV3296910single nucleotide variantNM_014810.5(CEP350):c.9271G>C (p.Gly3091Arg)not specified [RCV004436303]uncertain significance1180111078180111078Humanname
405777154CV3296911single nucleotide variantNM_014810.5(CEP350):c.9346C>T (p.Leu3116Phe)not specified [RCV004436304]uncertain significance1180111153180111153Humanname
407469149CV3428941single nucleotide variantNM_014810.5(CEP350):c.5665A>G (p.Ile1889Val)not specified [RCV004614939]uncertain significance1180075119180075119Humanname
407469152CV3428942single nucleotide variantNM_014810.5(CEP350):c.6817G>A (p.Asp2273Asn)not specified [RCV004614940]uncertain significance1180092922180092922Humanname
407469161CV3428945single nucleotide variantNM_014810.5(CEP350):c.4253A>G (p.Gln1418Arg)not specified [RCV004614943]uncertain significance1180041693180041693Humanname
407469164CV3428946single nucleotide variantNM_014810.5(CEP350):c.3877A>G (p.Asn1293Asp)not specified [RCV004614944]uncertain significance1180034013180034013Humanname
407469171CV3428948single nucleotide variantNM_014810.5(CEP350):c.7247C>T (p.Pro2416Leu)not specified [RCV004614946]uncertain significance1180093352180093352Humanname
407469174CV3428949single nucleotide variantNM_014810.5(CEP350):c.3131A>T (p.His1044Leu)not specified [RCV004614947]uncertain significance1180020905180020905Humanname
407469176CV3428950single nucleotide variantNM_014810.5(CEP350):c.4013C>T (p.Ala1338Val)not specified [RCV004614948]uncertain significance1180036992180036992Humanname
407469179CV3428951single nucleotide variantNM_014810.5(CEP350):c.8081T>C (p.Leu2694Ser)not specified [RCV004614949]uncertain significance1180094186180094186Humanname
407469183CV3428952single nucleotide variantNM_014810.5(CEP350):c.4283A>G (p.Gln1428Arg)not specified [RCV004614950]uncertain significance1180041723180041723Humanname
407469186CV3428953single nucleotide variantNM_014810.5(CEP350):c.8564C>A (p.Ala2855Asp)not specified [RCV004614951]uncertain significance1180095575180095575Humanname
407469192CV3428955single nucleotide variantNM_014810.5(CEP350):c.7331T>A (p.Leu2444His)not specified [RCV004614953]uncertain significance1180093436180093436Humanname
407469195CV3428956single nucleotide variantNM_014810.5(CEP350):c.7681C>G (p.Gln2561Glu)not specified [RCV004614954]uncertain significance1180093786180093786Humanname
407469207CV3428960single nucleotide variantNM_014810.5(CEP350):c.7811G>T (p.Arg2604Ile)not specified [RCV004614958]uncertain significance1180093916180093916Humanname
407469210CV3428961single nucleotide variantNM_014810.5(CEP350):c.4606A>C (p.Lys1536Gln)not specified [RCV004614959]uncertain significance1180044157180044157Humanname
407469213CV3428962single nucleotide variantNM_014810.5(CEP350):c.6788A>G (p.Tyr2263Cys)not specified [RCV004614960]uncertain significance1180092893180092893Humanname
407469217CV3428963single nucleotide variantNM_014810.5(CEP350):c.5509A>G (p.Ser1837Gly)not specified [RCV004614961]uncertain significance1180065214180065214Humanname
407469223CV3428965single nucleotide variantNM_014810.5(CEP350):c.8686G>A (p.Val2896Ile)not specified [RCV004614963]uncertain significance1180095697180095697Humanname
407469229CV3428967single nucleotide variantNM_014810.5(CEP350):c.7447C>T (p.Pro2483Ser)not specified [RCV004614965]uncertain significance1180093552180093552Humanname
407469233CV3428968single nucleotide variantNM_014810.5(CEP350):c.4222G>C (p.Val1408Leu)not specified [RCV004614966]uncertain significance1180041662180041662Humanname
407469239CV3428970single nucleotide variantNM_014810.5(CEP350):c.7333T>C (p.Ser2445Pro)not specified [RCV004614968]uncertain significance1180093438180093438Humanname
597780770CV3652878single nucleotide variantNM_014810.5(CEP350):c.7772A>G (p.Tyr2591Cys)not specified [RCV004899593]uncertain significance1180093877180093877Humanname
597780782CV3652881single nucleotide variantNM_014810.5(CEP350):c.4261C>T (p.Arg1421Trp)not specified [RCV004899596]uncertain significance1180041701180041701Humanname
597780789CV3652883single nucleotide variantNM_014810.5(CEP350):c.5276G>A (p.Arg1759His)not specified [RCV004899598]uncertain significance1180062233180062233Humanname
597780793CV3652884single nucleotide variantNM_014810.5(CEP350):c.4030C>T (p.Arg1344Cys)not specified [RCV004899599]uncertain significance1180037009180037009Humanname
597780797CV3652885single nucleotide variantNM_014810.5(CEP350):c.5278C>T (p.Leu1760Phe)not specified [RCV004899600]uncertain significance1180062235180062235Humanname
597780804CV3652887single nucleotide variantNM_014810.5(CEP350):c.4124G>A (p.Arg1375His)not specified [RCV004899602]uncertain significance1180041151180041151Humanname
597780808CV3652888single nucleotide variantNM_014810.5(CEP350):c.5219G>A (p.Arg1740Gln)not specified [RCV004899603]uncertain significance1180054459180054459Humanname
597780816CV3652890single nucleotide variantNM_014810.5(CEP350):c.4280T>A (p.Leu1427Gln)not specified [RCV004899605]uncertain significance1180041720180041720Humanname
597780820CV3652891single nucleotide variantNM_014810.5(CEP350):c.3509C>G (p.Thr1170Ser)not specified [RCV004899606]uncertain significance1180024541180024541Humanname
597780824CV3652892single nucleotide variantNM_014810.5(CEP350):c.4978T>G (p.Ser1660Ala)not specified [RCV004899607]uncertain significance1180053155180053155Humanname
597780827CV3652893single nucleotide variantNM_014810.5(CEP350):c.4077G>T (p.Gln1359His)not specified [RCV004899608]uncertain significance1180037056180037056Humanname
597780835CV3652895single nucleotide variantNM_014810.5(CEP350):c.9085G>A (p.Val3029Ile)not specified [RCV004899610]uncertain significance1180098881180098881Humanname
597780845CV3652898single nucleotide variantNM_014810.5(CEP350):c.7370A>G (p.Glu2457Gly)not specified [RCV004899613]uncertain significance1180093475180093475Humanname
597780849CV3652899single nucleotide variantNM_014810.5(CEP350):c.8674G>A (p.Glu2892Lys)not specified [RCV004899614]uncertain significance1180095685180095685Humanname
597780854CV3652900single nucleotide variantNM_014810.5(CEP350):c.4483A>G (p.Arg1495Gly)not specified [RCV004899615]uncertain significance1180043176180043176Humanname
597780857CV3652901single nucleotide variantNM_014810.5(CEP350):c.8302A>C (p.Asn2768His)not specified [RCV004899616]uncertain significance1180094407180094407Humanname
597780862CV3652902single nucleotide variantNM_014810.5(CEP350):c.8033C>T (p.Ser2678Phe)not specified [RCV004899617]uncertain significance1180094138180094138Humanname
597780877CV3652906single nucleotide variantNM_014810.5(CEP350):c.3275G>A (p.Arg1092Gln)not specified [RCV004899621]uncertain significance1180022737180022737Humanname
597780885CV3652908single nucleotide variantNM_014810.5(CEP350):c.5618A>G (p.Glu1873Gly)not specified [RCV004899623]uncertain significance1180075072180075072Humanname
597780889CV3652909single nucleotide variantNM_014810.5(CEP350):c.7085C>A (p.Ser2362Tyr)not specified [RCV004899624]uncertain significance1180093190180093190Humanname
597780900CV3652912single nucleotide variantNM_014810.5(CEP350):c.7352A>G (p.His2451Arg)not specified [RCV004899627]uncertain significance1180093457180093457Humanname
597780908CV3652914single nucleotide variantNM_014810.5(CEP350):c.6809A>G (p.Lys2270Arg)not specified [RCV004899629]uncertain significance1180092914180092914Humanname
597789144CV3652919single nucleotide variantNM_014810.5(CEP350):c.7460C>T (p.Ser2487Leu)not specified [RCV004901690]uncertain significance1180093565180093565Humanname
597789148CV3652920single nucleotide variantNM_014810.5(CEP350):c.3752A>G (p.Gln1251Arg)not specified [RCV004901691]uncertain significance1180033888180033888Humanname
597789152CV3652921single nucleotide variantNM_014810.5(CEP350):c.5075A>G (p.Glu1692Gly)not specified [RCV004901692]uncertain significance1180053835180053835Humanname
597789155CV3652922single nucleotide variantNM_014810.5(CEP350):c.4651A>G (p.Ser1551Gly)not specified [RCV004901693]uncertain significance1180048564180048564Humanname
598209185CV3947804single nucleotide variantNM_014810.5(CEP350):c.8140A>G (p.Lys2714Glu)not specified [RCV005315640]uncertain significance1180094245180094245Humanname
598209190CV3947805single nucleotide variantNM_014810.5(CEP350):c.3478G>A (p.Ala1160Thr)not specified [RCV005315641]uncertain significance1180024510180024510Humanname
598209195CV3947806single nucleotide variantNM_014810.5(CEP350):c.9218A>T (p.Gln3073Leu)not specified [RCV005315642]uncertain significance1180111025180111025Humanname
598209200CV3947807single nucleotide variantNM_014810.5(CEP350):c.5636A>G (p.Lys1879Arg)not specified [RCV005315643]uncertain significance1180075090180075090Humanname
598241785CV3947809single nucleotide variantNM_014810.5(CEP350):c.8216A>G (p.Asn2739Ser)not specified [RCV005321606]likely benign1180094321180094321Humanname
598209210CV3947811single nucleotide variantNM_014810.5(CEP350):c.3883C>T (p.Pro1295Ser)not specified [RCV005315645]uncertain significance1180034019180034019Humanname
598209221CV3947813single nucleotide variantNM_014810.5(CEP350):c.6745G>T (p.Val2249Phe)not specified [RCV005315647]uncertain significance1180092850180092850Humanname
598209227CV3947814single nucleotide variantNM_014810.5(CEP350):c.3193G>A (p.Val1065Ile)not specified [RCV005315648]uncertain significance1180020967180020967Humanname
598241795CV3947815single nucleotide variantNM_014810.5(CEP350):c.3942A>G (p.Ile1314Met)not specified [RCV005321608]uncertain significance1180034078180034078Humanname
598209233CV3947816single nucleotide variantNM_014810.5(CEP350):c.8785A>G (p.Asn2929Asp)not specified [RCV005315649]likely benign1180095796180095796Humanname
598209238CV3947817single nucleotide variantNM_014810.5(CEP350):c.8743G>A (p.Ala2915Thr)not specified [RCV005315650]uncertain significance1180095754180095754Humanname
598209257CV3947821single nucleotide variantNM_014810.5(CEP350):c.6578A>G (p.Asn2193Ser)not specified [RCV005315654]uncertain significance1180092683180092683Humanname
598209262CV3947822single nucleotide variantNM_014810.5(CEP350):c.4065T>G (p.Ile1355Met)not specified [RCV005315655]uncertain significance1180037044180037044Humanname
598209273CV3947824single nucleotide variantNM_014810.5(CEP350):c.5483G>A (p.Ser1828Asn)not specified [RCV005315657]uncertain significance1180065188180065188Humanname
598209277CV3947825single nucleotide variantNM_014810.5(CEP350):c.4445G>A (p.Arg1482Gln)not specified [RCV005315658]uncertain significance1180043138180043138Humanname
598209288CV3947827single nucleotide variantNM_014810.5(CEP350):c.3499C>T (p.Arg1167Cys)not specified [RCV005315660]uncertain significance1180024531180024531Humanname
598209294CV3947828single nucleotide variantNM_014810.5(CEP350):c.4171G>A (p.Ala1391Thr)not specified [RCV005315661]uncertain significance1180041198180041198Humanname
598209303CV3947830single nucleotide variantNM_014810.5(CEP350):c.3143C>G (p.Thr1048Arg)not specified [RCV005315663]uncertain significance1180020917180020917Humanname
598209308CV3947831single nucleotide variantNM_014810.5(CEP350):c.7424A>C (p.His2475Pro)not specified [RCV005315664]uncertain significance1180093529180093529Humanname
598209313CV3947832single nucleotide variantNM_014810.5(CEP350):c.4379G>C (p.Arg1460Thr)not specified [RCV005315665]uncertain significance1180043072180043072Humanname
598209332CV3947837single nucleotide variantNM_014810.5(CEP350):c.5434A>G (p.Lys1812Glu)not specified [RCV005315669]uncertain significance1180065139180065139Humanname
598209349CV3947841single nucleotide variantNM_014810.5(CEP350):c.7949A>G (p.His2650Arg)not specified [RCV005315672]uncertain significance1180094054180094054Humanname
598209359CV3947843single nucleotide variantNM_014810.5(CEP350):c.4903A>G (p.Arg1635Gly)not specified [RCV005315674]uncertain significance1180053080180053080Humanname
598209365CV3947844single nucleotide variantNM_014810.5(CEP350):c.3928A>G (p.Asn1310Asp)not specified [RCV005315675]uncertain significance1180034064180034064Humanname
15189087CV696298single nucleotide variantNM_014810.5(CEP350):c.5715A>G (p.Ile1905Met)not provided [RCV000954073]likely benign1180075169180075169Humanname
15183432CV706903single nucleotide variantNM_014810.5(CEP350):c.8205G>C (p.Lys2735Asn)not provided [RCV000974873]benign1180094310180094310Humanname
15107124CV718416single nucleotide variantNM_014810.5(CEP350):c.4385A>G (p.His1462Arg)not provided [RCV000893414]likely benign1180043078180043078Humanname
8629134CV84279single nucleotide variantNM_014810.4(CEP350):c.6950T>C (p.Leu2317Ser)Malignant melanoma [RCV000064361]not provided1180093055180093055Humanname