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


293 records found for search term Exoc3l
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
152139164CV1549649single nucleotide variantNM_001382422.1(EXOC3L2):c.1270-7A>Gnot provided [RCV002156537]benign194522827345228273Humanname
152104519CV1622652single nucleotide variantNM_001382422.1(EXOC3L2):c.1372-7C>Gnot provided [RCV002214623]benign194522808145228081Humanname
155946322CV2139468single nucleotide variantNM_001382422.1(EXOC3L2):c.1372-7C>Tnot provided [RCV002994364]benign194522808145228081Humanname
152116839CV1535116single nucleotide variantNM_001382422.1(EXOC3L2):c.1999-11C>Gnot provided [RCV002097605]benign194521620545216205Humanname
152122453CV1631927single nucleotide variantNM_001382422.1(EXOC3L2):c.1720-19C>Tnot provided [RCV002118021]benign194521833845218338Humanname
152126188CV1665891single nucleotide variantNM_001382422.1(EXOC3L2):c.1372-16G>Anot provided [RCV002198704]benign194522809045228090Humanname
156141003CV2002747single nucleotide variantNM_001382422.1(EXOC3L2):c.1583+18G>Anot provided [RCV002663568]likely benign194522764445227644Humanname
156402077CV2010031single nucleotide variantNM_001382422.1(EXOC3L2):c.1270-15C>Tnot provided [RCV002726093]likely benign194522828145228281Humanname
156022672CV2111156single nucleotide variantNM_001382422.1(EXOC3L2):c.1720-15C>Tnot provided [RCV002909688]likely benign194521833445218334Humanname
405127326CV2958493single nucleotide variantNM_001382422.1(EXOC3L2):c.1998+10G>Anot provided [RCV003667983]likely benign194521751845217518Humanname
405156647CV3028106single nucleotide variantNM_001382422.1(EXOC3L2):c.1998+17G>Cnot provided [RCV003703597]likely benign194521751145217511Humanname
405181430CV3147495single nucleotide variantNM_001382422.1(EXOC3L2):c.1999-20G>Anot provided [RCV003842397]likely benign194521621445216214Humanname
407574384CV3499388single nucleotide variantEXOC3L2, LEU41GLNBrain malformation renal syndrome [RCV004719029]pathogenicHuman1name
407574385CV3499389single nucleotide variantEXOC3L2, ARG72TERBrain malformation renal syndrome [RCV004719030]pathogenicHuman1name
155995475CV2109278single nucleotide variantNM_001382422.1(EXOC3L2):c.2265C>A (p.Asp755Glu)EXOC3L2-related disorder [RCV003916639]|not provided [RCV002947537]likely benign194521321345213213Human1name , trait , alternate_id
407574386CV3499391deletionEXOC3L2, EX3-5DEL (SCV001519072)Brain malformation renal syndrome [RCV004719031]pathogenicHuman1name
401911724CV2808026single nucleotide variantNM_178516.4(EXOC3L1):c.510G>A (p.Glu170=)not provided [RCV003426739]likely benign166718775567187755Humanname
598210496CV3954778single nucleotide variantNM_178516.4(EXOC3L1):c.29A>C (p.Gln10Pro)not specified [RCV005338757]uncertain significance166718964867189648Humanname
598210541CV3954785single nucleotide variantNM_178516.4(EXOC3L1):c.81G>C (p.Gln27His)not specified [RCV005338764]uncertain significance166718914667189146Humanname
8627852CV82996single nucleotide variantNM_178516.3(EXOC3L1):c.561C>T (p.Val187=)Malignant melanoma [RCV000063076]not provided166718770467187704Humanname
156235709CV2193419single nucleotide variantNM_178516.4(EXOC3L1):c.179G>A (p.Arg60His)not specified [RCV004072915]uncertain significance166718904867189048Humanname
156113306CV2261331single nucleotide variantNM_178516.4(EXOC3L1):c.218A>T (p.Gln73Leu)not specified [RCV004129980]uncertain significance166718893067188930Humanname
155964537CV2282853single nucleotide variantNM_178516.4(EXOC3L1):c.290G>A (p.Arg97Gln)not specified [RCV004143509]uncertain significance166718885867188858Humanname
156111181CV2387759single nucleotide variantNM_178516.4(EXOC3L1):c.118A>G (p.Ile40Val)not specified [RCV004234289]uncertain significance166718910967189109Humanname
401758702CV2694234single nucleotide variantNM_178516.4(EXOC3L1):c.199C>T (p.Arg67Cys)not specified [RCV004302651]uncertain significance166718902867189028Humanname
401916576CV2808027single nucleotide variantNM_178516.4(EXOC3L1):c.223T>A (p.Tyr75Asn)not provided [RCV003429127]likely benign166718892567188925Humanname
405772884CV3252572single nucleotide variantNM_178516.4(EXOC3L1):c.197C>T (p.Ser66Leu)not specified [RCV004385456]uncertain significance166718903067189030Humanname
405772892CV3252573single nucleotide variantNM_178516.4(EXOC3L1):c.289C>T (p.Arg97Trp)not specified [RCV004385457]uncertain significance166718885967188859Humanname
407499952CV3438583single nucleotide variantNM_178516.4(EXOC3L1):c.148C>G (p.Leu50Val)not specified [RCV004622902]uncertain significance166718907967189079Humanname
407500414CV3438585single nucleotide variantNM_178516.4(EXOC3L1):c.166C>A (p.Arg56Ser)not specified [RCV004622904]uncertain significance166718906167189061Humanname
597715160CV3675137single nucleotide variantNM_178516.4(EXOC3L1):c.178C>T (p.Arg60Cys)not specified [RCV004918197]uncertain significance166718904967189049Humanname
597715170CV3675138single nucleotide variantNM_178516.4(EXOC3L1):c.226C>A (p.Leu76Met)not specified [RCV004918198]uncertain significance166718892267188922Humanname
597715181CV3675139single nucleotide variantNM_178516.4(EXOC3L1):c.169G>A (p.Glu57Lys)not specified [RCV004918199]uncertain significance166718905867189058Humanname
597715191CV3675140single nucleotide variantNM_178516.4(EXOC3L1):c.259G>T (p.Ala87Ser)not specified [RCV004918200]uncertain significance166718888967188889Humanname
597715243CV3675145single nucleotide variantNM_178516.4(EXOC3L1):c.184T>C (p.Cys62Arg)not specified [RCV004918205]uncertain significance166718904367189043Humanname
8627853CV82997single nucleotide variantNM_178516.3(EXOC3L1):c.284G>A (p.Gly95Glu)Malignant melanoma [RCV000063077]not provided166718886467188864Humanname
156397734CV2197498single nucleotide variantNM_178516.4(EXOC3L1):c.641G>A (p.Arg214Gln)not specified [RCV004081226]uncertain significance166718762467187624Humanname
155980386CV2223023single nucleotide variantNM_178516.4(EXOC3L1):c.937C>T (p.His313Tyr)not specified [RCV004103608]uncertain significance166718732867187328Humanname
156197858CV2237345single nucleotide variantNM_178516.4(EXOC3L1):c.475T>C (p.Phe159Leu)not specified [RCV004104540]likely benign166718779067187790Humanname
155985127CV2270654single nucleotide variantNM_178516.4(EXOC3L1):c.520G>A (p.Glu174Lys)not specified [RCV004137868]uncertain significance166718774567187745Humanname
156203457CV2313310single nucleotide variantNM_178516.4(EXOC3L1):c.461T>C (p.Ile154Thr)not specified [RCV004161552]uncertain significance166718780467187804Humanname
329378148CV2450129single nucleotide variantNM_178516.4(EXOC3L1):c.853G>A (p.Val285Ile)not specified [RCV004270954]uncertain significance166718741267187412Humanname
401733380CV2691285single nucleotide variantNM_178516.4(EXOC3L1):c.508G>A (p.Glu170Lys)not specified [RCV004303045]uncertain significance166718775767187757Humanname
401772773CV2712899single nucleotide variantNM_178516.4(EXOC3L1):c.323A>C (p.Gln108Pro)not specified [RCV004314302]uncertain significance166718882567188825Humanname
401870146CV2772631single nucleotide variantNM_178516.4(EXOC3L1):c.415C>T (p.Arg139Trp)not specified [RCV004355379]uncertain significance166718873367188733Humanname
405772897CV3252574single nucleotide variantNM_178516.4(EXOC3L1):c.367C>G (p.Arg123Gly)not specified [RCV004385458]uncertain significance166718878167188781Humanname
405772901CV3252575single nucleotide variantNM_178516.4(EXOC3L1):c.383A>G (p.Lys128Arg)not specified [RCV004385459]uncertain significance166718876567188765Humanname
405772907CV3252576single nucleotide variantNM_178516.4(EXOC3L1):c.431C>T (p.Pro144Leu)not specified [RCV004385460]uncertain significance166718783467187834Humanname
405772914CV3252577single nucleotide variantNM_178516.4(EXOC3L1):c.445C>G (p.His149Asp)not specified [RCV004385461]uncertain significance166718782067187820Humanname
405772921CV3252578single nucleotide variantNM_178516.4(EXOC3L1):c.587A>G (p.Glu196Gly)not specified [RCV004385462]uncertain significance166718767867187678Humanname
405772928CV3252579single nucleotide variantNM_178516.4(EXOC3L1):c.601G>T (p.Ala201Ser)not specified [RCV004385463]uncertain significance166718766467187664Humanname
405772934CV3252580single nucleotide variantNM_178516.4(EXOC3L1):c.698G>A (p.Arg233Gln)not specified [RCV004385464]uncertain significance166718756767187567Humanname
405772941CV3252581single nucleotide variantNM_178516.4(EXOC3L1):c.751G>A (p.Ala251Thr)not specified [RCV004385465]uncertain significance166718751467187514Humanname
405773269CV3252582single nucleotide variantNM_178516.4(EXOC3L1):c.799C>T (p.Pro267Ser)not specified [RCV004385466]uncertain significance166718746667187466Humanname
405772949CV3252583single nucleotide variantNM_178516.4(EXOC3L1):c.827T>C (p.Leu276Pro)not specified [RCV004385467]uncertain significance166718743867187438Humanname
407499956CV3438584single nucleotide variantNM_178516.4(EXOC3L1):c.680C>T (p.Ala227Val)not specified [RCV004622903]uncertain significance166718758567187585Humanname
597715222CV3675143single nucleotide variantNM_178516.4(EXOC3L1):c.694G>A (p.Gly232Arg)not specified [RCV004918203]uncertain significance166718757167187571Humanname
597715232CV3675144single nucleotide variantNM_178516.4(EXOC3L1):c.421C>G (p.Arg141Gly)not specified [RCV004918204]uncertain significance166718872767188727Humanname
597715329CV3675153single nucleotide variantNM_178516.4(EXOC3L1):c.791C>T (p.Pro264Leu)not specified [RCV004918213]uncertain significance166718747467187474Humanname
598210509CV3954780single nucleotide variantNM_178516.4(EXOC3L1):c.841G>C (p.Val281Leu)not specified [RCV005338759]uncertain significance166718742467187424Humanname
598210515CV3954781single nucleotide variantNM_178516.4(EXOC3L1):c.310C>T (p.Arg104Cys)not specified [RCV005338760]uncertain significance166718883867188838Humanname
598210534CV3954784single nucleotide variantNM_178516.4(EXOC3L1):c.821G>C (p.Gly274Ala)not specified [RCV005338763]uncertain significance166718744467187444Humanname
598210548CV3954786single nucleotide variantNM_178516.4(EXOC3L1):c.760G>A (p.Glu254Lys)not specified [RCV005338765]uncertain significance166718750567187505Humanname
598210567CV3954789single nucleotide variantNM_178516.4(EXOC3L1):c.425C>A (p.Ala142Glu)not specified [RCV005338768]uncertain significance166718872367188723Humanname
598210574CV3954790single nucleotide variantNM_178516.4(EXOC3L1):c.490G>A (p.Val164Met)not specified [RCV005338769]likely benign166718777567187775Humanname
598210581CV3954791single nucleotide variantNM_178516.4(EXOC3L1):c.326G>A (p.Gly109Asp)not specified [RCV005338770]likely benign166718882267188822Humanname
150459827CV1268397single nucleotide variantNM_001077594.2(EXOC3L4):c.687C>G (p.Pro229=)not provided [RCV001693394]benign14103102410103102410Humanname
156369538CV2194010single nucleotide variantNM_178516.4(EXOC3L1):c.1646C>T (p.Pro549Leu)not specified [RCV004076776]uncertain significance166718523967185239Humanname
156398442CV2200800single nucleotide variantNM_178516.4(EXOC3L1):c.1205C>G (p.Ala402Gly)not specified [RCV004081436]uncertain significance166718683867186838Humanname
156398473CV2200824single nucleotide variantNM_178516.4(EXOC3L1):c.2068G>T (p.Asp690Tyr)not specified [RCV004081454]uncertain significance166718456767184567Humanname
156068578CV2203692single nucleotide variantNM_178516.4(EXOC3L1):c.1837G>A (p.Glu613Lys)not specified [RCV004074343]uncertain significance166718497067184970Humanname
156379160CV2207897single nucleotide variantNM_178516.4(EXOC3L1):c.1304G>A (p.Arg435His)not specified [RCV004084323]uncertain significance166718663867186638Humanname
156400786CV2217175single nucleotide variantNM_178516.4(EXOC3L1):c.2161C>G (p.Leu721Val)not specified [RCV004087632]uncertain significance166718447467184474Humanname
156018194CV2263131single nucleotide variantNM_178516.4(EXOC3L1):c.1000G>C (p.Ala334Pro)not specified [RCV004131372]uncertain significance166718726567187265Humanname
155928294CV2281074single nucleotide variantNM_178516.4(EXOC3L1):c.1498T>C (p.Ser500Pro)not specified [RCV004147347]uncertain significance166718548967185489Humanname
155945526CV2292149single nucleotide variantNM_178516.4(EXOC3L1):c.1736A>G (p.Asn579Ser)not specified [RCV004160405]uncertain significance166718514967185149Humanname
155999499CV2296203single nucleotide variantNM_178516.4(EXOC3L1):c.1855G>A (p.Glu619Lys)not specified [RCV004154122]uncertain significance166718495267184952Humanname
156257620CV2322078single nucleotide variantNM_178516.4(EXOC3L1):c.2077C>T (p.Arg693Trp)not specified [RCV004173821]uncertain significance166718455867184558Humanname
155994409CV2379540single nucleotide variantNM_178516.4(EXOC3L1):c.2002G>A (p.Gly668Ser)not specified [RCV004217249]uncertain significance166718471467184714Humanname
329360944CV2439920single nucleotide variantNM_178516.4(EXOC3L1):c.2050C>T (p.Leu684Phe)not specified [RCV004257954]uncertain significance166718458567184585Humanname
329363387CV2446218single nucleotide variantNM_178516.4(EXOC3L1):c.1333C>A (p.Gln445Lys)not specified [RCV004264617]uncertain significance166718660967186609Humanname
401736940CV2679186single nucleotide variantNM_178516.4(EXOC3L1):c.1453G>A (p.Val485Met)not specified [RCV004285746]uncertain significance166718628067186280Humanname
401721883CV2680722single nucleotide variantNM_178516.4(EXOC3L1):c.1505T>C (p.Val502Ala)not specified [RCV004291332]uncertain significance166718548267185482Humanname
401760692CV2715902single nucleotide variantNM_178516.4(EXOC3L1):c.2210C>G (p.Ser737Cys)not specified [RCV004329009]uncertain significance166718442567184425Humanname
401863010CV2755777single nucleotide variantNM_178516.4(EXOC3L1):c.2093C>T (p.Ala698Val)not specified [RCV004342153]uncertain significance166718454267184542Humanname
401911721CV2808024single nucleotide variantNM_178516.4(EXOC3L1):c.2147G>A (p.Arg716His)not provided [RCV003426737]likely benign166718448867184488Humanname
401911722CV2808025single nucleotide variantNM_178516.4(EXOC3L1):c.1346A>G (p.His449Arg)not provided [RCV003426738]likely benign166718659667186596Humanname
405772815CV3252561single nucleotide variantNM_178516.4(EXOC3L1):c.1010T>C (p.Leu337Ser)not specified [RCV004385445]uncertain significance166718725567187255Humanname
405772823CV3252562single nucleotide variantNM_178516.4(EXOC3L1):c.1216C>T (p.Arg406Trp)not specified [RCV004385446]uncertain significance166718682767186827Humanname
405772828CV3252563single nucleotide variantNM_178516.4(EXOC3L1):c.1241C>T (p.Pro414Leu)not specified [RCV004385447]uncertain significance166718680267186802Humanname
405772841CV3252565single nucleotide variantNM_178516.4(EXOC3L1):c.1337A>G (p.Gln446Arg)not specified [RCV004385449]likely benign166718660567186605Humanname
405772847CV3252566single nucleotide variantNM_178516.4(EXOC3L1):c.1574T>G (p.Leu525Trp)not specified [RCV004385450]uncertain significance166718541367185413Humanname
405772853CV3252567single nucleotide variantNM_178516.4(EXOC3L1):c.1700C>T (p.Thr567Met)not specified [RCV004385451]uncertain significance166718518567185185Humanname
405772859CV3252568single nucleotide variantNM_178516.4(EXOC3L1):c.1765G>A (p.Ala589Thr)not specified [RCV004385452]uncertain significance166718504267185042Humanname
405772865CV3252569single nucleotide variantNM_178516.4(EXOC3L1):c.1780G>C (p.Val594Leu)not specified [RCV004385453]uncertain significance166718502767185027Humanname
405772873CV3252570single nucleotide variantNM_178516.4(EXOC3L1):c.1883T>C (p.Leu628Pro)not specified [RCV004385454]uncertain significance166718492467184924Humanname
405772878CV3252571single nucleotide variantNM_178516.4(EXOC3L1):c.1961T>C (p.Leu654Pro)not specified [RCV004385455]uncertain significance166718475567184755Humanname
407500364CV3438597single nucleotide variantNM_001077594.2(EXOC3L4):c.37C>A (p.Leu13Met)not specified [RCV004622916]uncertain significance14103100256103100256Humanname
597715201CV3675141single nucleotide variantNM_178516.4(EXOC3L1):c.1858C>T (p.Arg620Cys)not specified [RCV004918201]uncertain significance166718494967184949Humanname
597715211CV3675142single nucleotide variantNM_178516.4(EXOC3L1):c.1591C>A (p.Arg531Ser)not specified [RCV004918202]uncertain significance166718539667185396Humanname
597715253CV3675146single nucleotide variantNM_178516.4(EXOC3L1):c.1349G>A (p.Gly450Asp)not specified [RCV004918206]uncertain significance166718659367186593Humanname
597715263CV3675147single nucleotide variantNM_178516.4(EXOC3L1):c.1613A>G (p.Gln538Arg)not specified [RCV004918207]uncertain significance166718537467185374Humanname
597715276CV3675148single nucleotide variantNM_178516.4(EXOC3L1):c.1529C>T (p.Ala510Val)not specified [RCV004918208]likely benign166718545867185458Humanname
597715285CV3675149single nucleotide variantNM_178516.4(EXOC3L1):c.1240C>T (p.Pro414Ser)not specified [RCV004918209]uncertain significance166718680367186803Humanname
597715296CV3675150single nucleotide variantNM_178516.4(EXOC3L1):c.1906G>C (p.Gly636Arg)not specified [RCV004918210]uncertain significance166718481067184810Humanname
597715306CV3675151single nucleotide variantNM_178516.4(EXOC3L1):c.1859G>A (p.Arg620His)not specified [RCV004918211]uncertain significance166718494867184948Humanname
597715317CV3675152single nucleotide variantNM_178516.4(EXOC3L1):c.1255T>G (p.Tyr419Asp)not specified [RCV004918212]uncertain significance166718678867186788Humanname
598210522CV3954782single nucleotide variantNM_178516.4(EXOC3L1):c.2128T>C (p.Ser710Pro)not specified [RCV005338761]uncertain significance166718450767184507Humanname
598210528CV3954783single nucleotide variantNM_178516.4(EXOC3L1):c.1729G>A (p.Val577Met)not specified [RCV005338762]uncertain significance166718515667185156Humanname
598210555CV3954787single nucleotide variantNM_178516.4(EXOC3L1):c.1712G>A (p.Cys571Tyr)not specified [RCV005338766]uncertain significance166718517367185173Humanname
151845256CV1345987single nucleotide variantNM_001382422.1(EXOC3L2):c.1449C>T (p.Gly483=)not provided [RCV001936622]uncertain significance194522799745227997Humanname
152053720CV1523764single nucleotide variantNM_001382422.1(EXOC3L2):c.1279C>A (p.Arg427=)not provided [RCV002127529]benign194522825745228257Humanname
152110461CV1581528single nucleotide variantNM_001382422.1(EXOC3L2):c.1254C>T (p.Cys418=)not provided [RCV002096779]likely benign194523177845231778Humanname
152157686CV1615980single nucleotide variantNM_001382422.1(EXOC3L2):c.1632G>A (p.Pro544=)not provided [RCV002159072]benign194522486545224865Humanname
152092928CV1631882single nucleotide variantNM_001382422.1(EXOC3L2):c.2025C>T (p.Ala675=)not provided [RCV002132270]benign194521616845216168Humanname
152068214CV1660222single nucleotide variantNM_001382422.1(EXOC3L2):c.1932C>T (p.Thr644=)not provided [RCV002147716]likely benign194521759445217594Humanname
156411592CV1889443single nucleotide variantNM_001382422.1(EXOC3L2):c.1689C>T (p.Val563=)not provided [RCV003072543]likely benign194522480845224808Humanname
156363567CV1901465single nucleotide variantNM_001382422.1(EXOC3L2):c.1749G>A (p.Lys583=)not provided [RCV002602665]likely benign194521829045218290Humanname
156052158CV1931974single nucleotide variantNM_001382422.1(EXOC3L2):c.1425G>A (p.Glu475=)not provided [RCV002620647]likely benign194522802145228021Humanname
156213502CV1963125single nucleotide variantNM_001382422.1(EXOC3L2):c.1404C>T (p.Arg468=)not provided [RCV002575242]likely benign194522804245228042Humanname
156007466CV2042460single nucleotide variantNM_001382422.1(EXOC3L2):c.1200G>A (p.Gly400=)not provided [RCV002794917]likely benign194523183245231832Humanname
156113381CV2154330single nucleotide variantNM_001382422.1(EXOC3L2):c.2328C>A (p.Leu776=)not provided [RCV003021505]likely benign194521315045213150Humanname
156361329CV2158849single nucleotide variantNM_001382422.1(EXOC3L2):c.1704G>C (p.Leu568=)not provided [RCV003031585]likely benign194522479345224793Humanname
329358564CV2425210single nucleotide variantNM_001077594.2(EXOC3L4):c.254G>A (p.Arg85Gln)not specified [RCV004250885]uncertain significance14103100473103100473Humanname
402498580CV2871880single nucleotide variantNM_001382422.1(EXOC3L2):c.2388G>A (p.Ala796=)not provided [RCV003545668]benign194521309045213090Humanname
405156725CV3065006single nucleotide variantNM_001382422.1(EXOC3L2):c.1353G>T (p.Leu451=)not provided [RCV003726809]likely benign194522818345228183Humanname
405035722CV3072455single nucleotide variantNM_001382422.1(EXOC3L2):c.1311C>T (p.Asp437=)not provided [RCV003739417]benign194522822545228225Humanname
405773083CV3252605single nucleotide variantNM_001077594.2(EXOC3L4):c.262C>T (p.Arg88Trp)not specified [RCV004385489]uncertain significance14103100481103100481Humanname
405773091CV3252606single nucleotide variantNM_001077594.2(EXOC3L4):c.297T>G (p.His99Gln)not specified [RCV004385490]likely benign14103100516103100516Humanname
407500372CV3438595single nucleotide variantNM_001077594.2(EXOC3L4):c.278A>C (p.Asp93Ala)not specified [RCV004622914]uncertain significance14103100497103100497Humanname
407500344CV3438602single nucleotide variantNM_001077594.2(EXOC3L4):c.161G>A (p.Arg54Lys)not specified [RCV004622921]uncertain significance14103100380103100380Humanname
597969746CV3753442single nucleotide variantNM_001382422.1(EXOC3L2):c.2013G>C (p.Ser671=)not provided [RCV005083927]likely benign194521618045216180Humanname
8635108CV90330single nucleotide variantNM_001077594.1(EXOC3L4):c.1638C>T (p.Pro546=)Malignant melanoma [RCV000070428]not provided14103107480103107480Humanname
34890905CV904680single nucleotide variantNM_001382422.1(EXOC3L2):c.2379G>A (p.Pro793=)not provided [RCV001171806]likely benign194521309945213099Humanname
150466384CV1255730single nucleotide variantNM_001077594.2(EXOC3L4):c.889G>A (p.Val297Met)not provided [RCV001670364]benign14103102612103102612Humanname
151663366CV1333904single nucleotide variantNM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu)not provided [RCV004799675]uncertain significance14103102284103102284Humanname
155972061CV2214237single nucleotide variantNM_001077594.2(EXOC3L4):c.358A>G (p.Thr120Ala)not specified [RCV004086230]uncertain significance14103100577103100577Humanname
156387876CV2221640single nucleotide variantNM_001077594.2(EXOC3L4):c.918C>G (p.Phe306Leu)not specified [RCV004096888]uncertain significance14103102641103102641Humanname
156277231CV2287824single nucleotide variantNM_001077594.2(EXOC3L4):c.527C>G (p.Ala176Gly)not specified [RCV004143266]uncertain significance14103102250103102250Humanname
156291795CV2321155single nucleotide variantNM_001077594.2(EXOC3L4):c.923C>T (p.Ala308Val)not specified [RCV004175281]uncertain significance14103102646103102646Humanname
156355872CV2324566single nucleotide variantNM_001077594.2(EXOC3L4):c.941G>A (p.Arg314His)not specified [RCV004179039]uncertain significance14103102664103102664Humanname
156181912CV2338160single nucleotide variantNM_001077594.2(EXOC3L4):c.689A>G (p.Asp230Gly)not specified [RCV004184190]uncertain significance14103102412103102412Humanname
155983809CV2348103single nucleotide variantNM_001077594.2(EXOC3L4):c.682C>A (p.Pro228Thr)not specified [RCV004197781]uncertain significance14103102405103102405Humanname
155936213CV2379785single nucleotide variantNM_001077594.2(EXOC3L4):c.593G>T (p.Arg198Leu)not specified [RCV004219900]uncertain significance14103102316103102316Humanname
156222626CV2394701single nucleotide variantNM_001077594.2(EXOC3L4):c.931G>A (p.Val311Ile)not specified [RCV004234380]uncertain significance14103102654103102654Humanname
155933860CV2399400single nucleotide variantNM_001077594.2(EXOC3L4):c.647G>A (p.Arg216His)not specified [RCV004242681]uncertain significance14103102370103102370Humanname
329360084CV2458504single nucleotide variantNM_001077594.2(EXOC3L4):c.817T>A (p.Ser273Thr)not specified [RCV004268201]uncertain significance14103102540103102540Humanname
329375654CV2468741single nucleotide variantNM_001077594.2(EXOC3L4):c.946T>G (p.Phe316Val)not specified [RCV004280064]uncertain significance14103102669103102669Humanname
401747591CV2688954single nucleotide variantNM_001077594.2(EXOC3L4):c.776G>T (p.Arg259Leu)not specified [RCV004303954]uncertain significance14103102499103102499Humanname
401764735CV2728053single nucleotide variantNM_001077594.2(EXOC3L4):c.968G>A (p.Arg323His)not specified [RCV004324167]uncertain significance14103102691103102691Humanname
401887603CV2772041single nucleotide variantNM_001077594.2(EXOC3L4):c.478G>C (p.Val160Leu)not specified [RCV004344715]uncertain significance14103102201103102201Humanname
401928963CV2808893single nucleotide variantNM_001382422.1(EXOC3L2):c.326G>A (p.Arg109Gln)not provided [RCV003407030]uncertain significance194523872045238720Humanname
405773095CV3252607single nucleotide variantNM_001077594.2(EXOC3L4):c.715C>A (p.Arg239Ser)not specified [RCV004385491]uncertain significance14103102438103102438Humanname
405773099CV3252608single nucleotide variantNM_001077594.2(EXOC3L4):c.736G>C (p.Glu246Gln)not specified [RCV004385492]uncertain significance14103102459103102459Humanname
405773105CV3252609single nucleotide variantNM_001077594.2(EXOC3L4):c.979C>T (p.Leu327Phe)not specified [RCV004385493]uncertain significance14103102702103102702Humanname
405854902CV3395028duplicationNM_001382422.1(EXOC3L2):c.1972dup (p.Gln658fs)EXOC3L2-related brain malformations and/or renal disease [RCV004555170]likely pathogenic194521755345217554Humanname , trait
407500381CV3438593single nucleotide variantNM_001077594.2(EXOC3L4):c.325G>T (p.Gly109Trp)not specified [RCV004622912]uncertain significance14103100544103100544Humanname
407500352CV3438600single nucleotide variantNM_001077594.2(EXOC3L4):c.316G>A (p.Val106Met)not specified [RCV004622919]uncertain significance14103100535103100535Humanname
407500348CV3438601single nucleotide variantNM_001077594.2(EXOC3L4):c.418A>C (p.Ile140Leu)not specified [RCV004622920]uncertain significance14103102141103102141Humanname
597715459CV3675165single nucleotide variantNM_001077594.2(EXOC3L4):c.712C>T (p.Pro238Ser)not specified [RCV004918225]uncertain significance14103102435103102435Humanname
597715470CV3675166single nucleotide variantNM_001077594.2(EXOC3L4):c.802G>A (p.Glu268Lys)not specified [RCV004918226]uncertain significance14103102525103102525Humanname
597715516CV3675171single nucleotide variantNM_001077594.2(EXOC3L4):c.373G>A (p.Glu125Lys)not specified [RCV004918231]uncertain significance14103100592103100592Humanname
597715529CV3675172single nucleotide variantNM_001077594.2(EXOC3L4):c.613G>A (p.Gly205Ser)not specified [RCV004918232]uncertain significance14103102336103102336Humanname
597715539CV3675173single nucleotide variantNM_001077594.2(EXOC3L4):c.388G>C (p.Glu130Gln)not specified [RCV004918233]uncertain significance14103100607103100607Humanname
597715575CV3675176single nucleotide variantNM_001077594.2(EXOC3L4):c.658G>A (p.Ala220Thr)not specified [RCV004918236]uncertain significance14103102381103102381Humanname
598210607CV3954795single nucleotide variantNM_001077594.2(EXOC3L4):c.549C>G (p.Cys183Trp)not specified [RCV005338774]uncertain significance14103102272103102272Humanname
598194679CV3954798single nucleotide variantNM_001077594.2(EXOC3L4):c.706C>T (p.Arg236Cys)not specified [RCV005335438]uncertain significance14103102429103102429Humanname
150516429CV1227060single nucleotide variantNM_001077594.2(EXOC3L4):c.1126G>T (p.Ala376Ser)not provided [RCV001639158]benign14103104017103104017Humanname
151727621CV1241975single nucleotide variantNM_001382422.1(EXOC3L2):c.1301T>A (p.Leu434Gln)Meckel-like syndrome [RCV001844343]pathogenic194522823545228235Humanname
151846126CV1353674single nucleotide variantNM_001382422.1(EXOC3L2):c.2269C>G (p.Pro757Ala)not provided [RCV001957351]|not specified [RCV004044262]uncertain significance194521320945213209Humanname
151773656CV1424061single nucleotide variantNM_001382422.1(EXOC3L2):c.2390G>A (p.Arg797Gln)not provided [RCV002045485]|not specified [RCV004917766]uncertain significance194521308845213088Humanname
151872077CV1480607single nucleotide variantNM_001382422.1(EXOC3L2):c.2176C>T (p.Arg726Cys)not provided [RCV001906621]uncertain significance194521330245213302Humanname
152028828CV1555543single nucleotide variantNM_001382422.1(EXOC3L2):c.2372G>A (p.Arg791Gln)not provided [RCV002185966]benign194521310645213106Humanname
152042475CV1621708single nucleotide variantNM_001382422.1(EXOC3L2):c.1696A>G (p.Asn566Asp)not provided [RCV002107933]benign194522480145224801Humanname
152039604CV1658129single nucleotide variantNM_001382422.1(EXOC3L2):c.2347A>G (p.Ser783Gly)not provided [RCV002206143]benign194521313145213131Humanname
156054864CV1869847single nucleotide variantNM_001382422.1(EXOC3L2):c.1690G>A (p.Val564Met)not provided [RCV003053127]uncertain significance194522480745224807Humanname
156046222CV1927115single nucleotide variantNM_001382422.1(EXOC3L2):c.1744C>T (p.Arg582Trp)not provided [RCV002637768]|not specified [RCV004070793]uncertain significance194521829545218295Humanname
156300080CV2002009single nucleotide variantNM_001382422.1(EXOC3L2):c.1684C>G (p.Arg562Gly)not provided [RCV002671120]|not specified [RCV005343457]uncertain significance194522481345224813Humanname
155940722CV2054944single nucleotide variantNM_001382422.1(EXOC3L2):c.2001G>C (p.Glu667Asp)not provided [RCV002815678]uncertain significance194521619245216192Humanname
156006087CV2099747single nucleotide variantNM_001382422.1(EXOC3L2):c.1399C>T (p.Pro467Ser)not provided [RCV002908863]benign194522804745228047Humanname
156204961CV2103653single nucleotide variantNM_001382422.1(EXOC3L2):c.1673G>A (p.Arg558Gln)not provided [RCV002931828]likely benign194522482445224824Humanname
156136636CV2105802single nucleotide variantNM_001382422.1(EXOC3L2):c.1741C>T (p.Arg581Cys)not provided [RCV002914749]uncertain significance194521829845218298Humanname
155902146CV2127009single nucleotide variantNM_001382422.1(EXOC3L2):c.2215T>C (p.Ser739Pro)not provided [RCV002967486]benign|likely benign194521326345213263Humanname
155963669CV2134629single nucleotide variantNM_001382422.1(EXOC3L2):c.1685G>A (p.Arg562His)not provided [RCV002972505]|not specified [RCV004065132]uncertain significance194522481245224812Humanname
156368111CV2199771single nucleotide variantNM_001077594.2(EXOC3L4):c.2027G>A (p.Arg676Gln)not specified [RCV004073975]uncertain significance14103110081103110081Humanname
156248622CV2203169single nucleotide variantNM_001077594.2(EXOC3L4):c.1634A>G (p.His545Arg)not specified [RCV004070867]likely benign14103107476103107476Humanname
156379044CV2207868single nucleotide variantNM_001077594.2(EXOC3L4):c.1150A>C (p.Ser384Arg)not specified [RCV004084297]uncertain significance14103104041103104041Humanname
155921380CV2212285single nucleotide variantNM_001077594.2(EXOC3L4):c.2021G>A (p.Arg674His)not specified [RCV004090947]uncertain significance14103110075103110075Humanname
155969679CV2213374single nucleotide variantNM_001077594.2(EXOC3L4):c.1663G>A (p.Ala555Thr)not specified [RCV004087362]likely benign14103107505103107505Humanname
156400788CV2217176single nucleotide variantNM_001077594.2(EXOC3L4):c.1936C>T (p.Arg646Trp)not specified [RCV004087633]uncertain significance14103108477103108477Humanname
155941065CV2232408single nucleotide variantNM_001382422.1(EXOC3L2):c.1645T>A (p.Ser549Thr)not specified [RCV004099035]uncertain significance194522485245224852Humanname
155951274CV2238753single nucleotide variantNM_001077594.2(EXOC3L4):c.1073G>A (p.Gly358Glu)not specified [RCV004109681]uncertain significance14103103964103103964Humanname
156232817CV2245199single nucleotide variantNM_001382422.1(EXOC3L2):c.1367G>T (p.Cys456Phe)not specified [RCV004106977]uncertain significance194522816945228169Humanname
156208219CV2250100single nucleotide variantNM_001382422.1(EXOC3L2):c.2102G>A (p.Arg701His)not specified [RCV004116921]uncertain significance194521609145216091Humanname
156135399CV2256889single nucleotide variantNM_001382422.1(EXOC3L2):c.1688T>C (p.Val563Ala)not specified [RCV004121094]uncertain significance194522480945224809Humanname
155963721CV2261515single nucleotide variantNM_001077594.2(EXOC3L4):c.1925A>G (p.Asp642Gly)not specified [RCV004123946]uncertain significance14103108466103108466Humanname
156021879CV2264507single nucleotide variantNM_001077594.2(EXOC3L4):c.1794G>T (p.Met598Ile)not specified [RCV004138396]uncertain significance14103107723103107723Humanname
156026428CV2271065single nucleotide variantNM_001077594.2(EXOC3L4):c.2018G>C (p.Gly673Ala)not specified [RCV004134456]uncertain significance14103110072103110072Humanname
156262701CV2287643single nucleotide variantNM_001077594.2(EXOC3L4):c.1370G>A (p.Gly457Asp)not specified [RCV004141076]uncertain significance14103104823103104823Humanname
156181328CV2298525single nucleotide variantNM_001382422.1(EXOC3L2):c.2101C>T (p.Arg701Cys)not specified [RCV004162182]uncertain significance194521609245216092Humanname
156198024CV2334451single nucleotide variantNM_001077594.2(EXOC3L4):c.1912G>A (p.Glu638Lys)not specified [RCV004188423]uncertain significance14103108453103108453Humanname
155921850CV2340521single nucleotide variantNM_001077594.2(EXOC3L4):c.2077G>A (p.Gly693Arg)not specified [RCV004197240]uncertain significance14103110131103110131Humanname
156341766CV2344947single nucleotide variantNM_001382422.1(EXOC3L2):c.1483C>T (p.Arg495Cys)not specified [RCV004193242]uncertain significance194522776245227762Humanname
156280585CV2348459single nucleotide variantNM_001382422.1(EXOC3L2):c.2396G>A (p.Arg799Gln)not provided [RCV005098981]|not specified [RCV004193649]likely benign|uncertain significance194521308245213082Humanname
156139607CV2354791single nucleotide variantNM_001382422.1(EXOC3L2):c.1607G>A (p.Arg536Gln)not specified [RCV004204776]uncertain significance194522489045224890Humanname
156106057CV2361385single nucleotide variantNM_001382422.1(EXOC3L2):c.1394G>A (p.Arg465Gln)not specified [RCV004218587]uncertain significance194522805245228052Humanname
156073695CV2365470single nucleotide variantNM_001382422.1(EXOC3L2):c.2068C>G (p.Pro690Ala)not specified [RCV004209542]uncertain significance194521612545216125Humanname
155929879CV2369940single nucleotide variantNM_001382422.1(EXOC3L2):c.1831G>A (p.Glu611Lys)not specified [RCV004208405]uncertain significance194521820845218208Humanname
156401957CV2371244single nucleotide variantNM_001077594.2(EXOC3L4):c.1777C>T (p.Arg593Trp)not specified [RCV004220982]likely benign14103107706103107706Humanname
156346081CV2377882single nucleotide variantNM_001077594.2(EXOC3L4):c.1867A>G (p.Thr623Ala)not specified [RCV004230453]uncertain significance14103108408103108408Humanname
156211626CV2378310single nucleotide variantNM_001077594.2(EXOC3L4):c.1729G>A (p.Val577Met)not specified [RCV004226340]uncertain significance14103107658103107658Humanname
156000716CV2378732single nucleotide variantNM_001077594.2(EXOC3L4):c.1687C>T (p.Arg563Trp)not specified [RCV004231189]uncertain significance14103107529103107529Humanname
156190658CV2391147single nucleotide variantNM_001382422.1(EXOC3L2):c.2371C>T (p.Arg791Trp)not specified [RCV004235123]uncertain significance194521310745213107Humanname
155969124CV2391544single nucleotide variantNM_001382422.1(EXOC3L2):c.2261C>T (p.Ala754Val)not specified [RCV004239927]uncertain significance194521321745213217Humanname
156228586CV2393022single nucleotide variantNM_001382422.1(EXOC3L2):c.2194G>A (p.Val732Met)not specified [RCV004242874]uncertain significance194521328445213284Humanname
329372977CV2434059single nucleotide variantNM_001382422.1(EXOC3L2):c.1592C>T (p.Ala531Val)not specified [RCV004249959]uncertain significance194522490545224905Humanname
329361209CV2436787single nucleotide variantNM_001382422.1(EXOC3L2):c.1426C>T (p.Arg476Trp)not specified [RCV004260190]uncertain significance194522802045228020Humanname
329365256CV2440192single nucleotide variantNM_001382422.1(EXOC3L2):c.1291C>G (p.Leu431Val)not specified [RCV004260643]uncertain significance194522824545228245Humanname
329380269CV2466521single nucleotide variantNM_001382422.1(EXOC3L2):c.1271C>T (p.Ala424Val)not specified [RCV004274064]uncertain significance194522826545228265Humanname
401729079CV2673145single nucleotide variantNM_001382422.1(EXOC3L2):c.1742G>A (p.Arg581His)not specified [RCV004284128]uncertain significance194521829745218297Humanname
401731495CV2674393single nucleotide variantNM_001382422.1(EXOC3L2):c.1538A>G (p.Tyr513Cys)not specified [RCV004289263]uncertain significance194522770745227707Humanname
401719986CV2675741single nucleotide variantNM_001382422.1(EXOC3L2):c.2403G>C (p.Gln801His)not specified [RCV004287986]uncertain significance194521307545213075Humanname
401746330CV2694836single nucleotide variantNM_001382422.1(EXOC3L2):c.1990C>G (p.Arg664Gly)not specified [RCV004300913]uncertain significance194521753645217536Humanname
401726207CV2695605single nucleotide variantNM_001077594.2(EXOC3L4):c.2149G>A (p.Val717Met)not specified [RCV004299425]uncertain significance14103110203103110203Humanname
401763175CV2707562single nucleotide variantNM_001382422.1(EXOC3L2):c.1285G>A (p.Ala429Thr)not specified [RCV004312928]uncertain significance194522825145228251Humanname
401749829CV2711023single nucleotide variantNM_001077594.2(EXOC3L4):c.2054A>G (p.Gln685Arg)not specified [RCV004310723]uncertain significance14103110108103110108Humanname
401762689CV2711112single nucleotide variantNM_001077594.2(EXOC3L4):c.2030A>C (p.Asn677Thr)not specified [RCV004310795]uncertain significance14103110084103110084Humanname
401724454CV2714848single nucleotide variantNM_001077594.2(EXOC3L4):c.1240C>A (p.Leu414Met)not specified [RCV004320401]uncertain significance14103104345103104345Humanname
401778791CV2735504single nucleotide variantNM_001077594.2(EXOC3L4):c.1891T>C (p.Cys631Arg)not specified [RCV004331061]uncertain significance14103108432103108432Humanname
401866744CV2758993single nucleotide variantNM_001382422.1(EXOC3L2):c.1745G>A (p.Arg582Gln)not specified [RCV004342304]uncertain significance194521829445218294Humanname
401870296CV2765815single nucleotide variantNM_001077594.2(EXOC3L4):c.1694G>A (p.Arg565Gln)not specified [RCV004335809]uncertain significance14103107536103107536Humanname
401883935CV2785809single nucleotide variantNM_001382422.1(EXOC3L2):c.2131G>A (p.Val711Met)not specified [RCV004365055]uncertain significance194521334745213347Humanname
401895079CV2792772single nucleotide variantNM_001077594.2(EXOC3L4):c.2003C>A (p.Ala668Glu)not specified [RCV004365528]uncertain significance14103110057103110057Humanname
401910674CV2808892single nucleotide variantNM_001382422.1(EXOC3L2):c.2366G>A (p.Arg789Gln)not provided [RCV003425257]uncertain significance194521311245213112Humanname
405181233CV3060590single nucleotide variantNM_001382422.1(EXOC3L2):c.2365C>T (p.Arg789Trp)not provided [RCV003728723]uncertain significance194521311345213113Humanname
405772957CV3252584single nucleotide variantNM_001382422.1(EXOC3L2):c.2188C>G (p.Leu730Val)not specified [RCV004385468]uncertain significance194521329045213290Humanname
405772964CV3252585single nucleotide variantNM_001382422.1(EXOC3L2):c.2326C>G (p.Leu776Val)not specified [RCV004385469]uncertain significance194521315245213152Humanname
405772969CV3252586single nucleotide variantNM_001382422.1(EXOC3L2):c.1305G>T (p.Gln435His)not specified [RCV004385470]uncertain significance194522823145228231Humanname
405772975CV3252587single nucleotide variantNM_001382422.1(EXOC3L2):c.1402C>T (p.Arg468Cys)not specified [RCV004385471]uncertain significance194522804445228044Humanname
405772982CV3252588single nucleotide variantNM_001382422.1(EXOC3L2):c.1427G>A (p.Arg476Gln)not specified [RCV004385472]uncertain significance194522801945228019Humanname
405772988CV3252589single nucleotide variantNM_001382422.1(EXOC3L2):c.1627G>A (p.Glu543Lys)not specified [RCV004385473]uncertain significance194522487045224870Humanname
405772994CV3252590single nucleotide variantNM_001382422.1(EXOC3L2):c.2005C>G (p.Gln669Glu)not specified [RCV004385474]uncertain significance194521618845216188Humanname
405772998CV3252591single nucleotide variantNM_001382422.1(EXOC3L2):c.2146G>A (p.Asp716Asn)not specified [RCV004385475]uncertain significance194521333245213332Humanname
405773003CV3252592single nucleotide variantNM_001382422.1(EXOC3L2):c.2162G>A (p.Arg721His)not specified [RCV004385476]uncertain significance194521331645213316Humanname
405773009CV3252593single nucleotide variantNM_001077594.2(EXOC3L4):c.1157T>C (p.Leu386Pro)not specified [RCV004385477]uncertain significance14103104048103104048Humanname
405773015CV3252594single nucleotide variantNM_001077594.2(EXOC3L4):c.1252T>C (p.Tyr418His)not specified [RCV004385478]uncertain significance14103104357103104357Humanname
405773022CV3252595single nucleotide variantNM_001077594.2(EXOC3L4):c.1276G>A (p.Val426Ile)not specified [RCV004385479]uncertain significance14103104381103104381Humanname
405773029CV3252596single nucleotide variantNM_001077594.2(EXOC3L4):c.1306G>A (p.Ala436Thr)not specified [RCV004385480]uncertain significance14103104759103104759Humanname
405773035CV3252597single nucleotide variantNM_001077594.2(EXOC3L4):c.1414G>C (p.Ala472Pro)not specified [RCV004385481]uncertain significance14103105020103105020Humanname
405773041CV3252598single nucleotide variantNM_001077594.2(EXOC3L4):c.1607G>A (p.Arg536Lys)not specified [RCV004385482]likely benign14103107449103107449Humanname
405773048CV3252599single nucleotide variantNM_001077594.2(EXOC3L4):c.1772G>A (p.Arg591Gln)not specified [RCV004385483]uncertain significance14103107701103107701Humanname
405773061CV3252601single nucleotide variantNM_001077594.2(EXOC3L4):c.1848G>C (p.Gln616His)not specified [RCV004385485]uncertain significance14103107777103107777Humanname
405773066CV3252602single nucleotide variantNM_001077594.2(EXOC3L4):c.2036A>G (p.His679Arg)not specified [RCV004385486]likely benign14103110090103110090Humanname
405773072CV3252603single nucleotide variantNM_001077594.2(EXOC3L4):c.2105G>A (p.Gly702Asp)not specified [RCV004385487]uncertain significance14103110159103110159Humanname
405773079CV3252604single nucleotide variantNM_001077594.2(EXOC3L4):c.2108G>T (p.Arg703Leu)not specified [RCV004385488]uncertain significance14103110162103110162Humanname
407500411CV3438586single nucleotide variantNM_001382422.1(EXOC3L2):c.1517G>A (p.Arg506Gln)not specified [RCV004622905]uncertain significance194522772845227728Humanname
407500403CV3438588single nucleotide variantNM_001382422.1(EXOC3L2):c.1598G>A (p.Arg533His)not specified [RCV004622907]uncertain significance194522489945224899Humanname
407500398CV3438589single nucleotide variantNM_001382422.1(EXOC3L2):c.1576C>T (p.Pro526Ser)not specified [RCV004622908]uncertain significance194522766945227669Humanname
407500395CV3438590single nucleotide variantNM_001382422.1(EXOC3L2):c.2198C>T (p.Ala733Val)not specified [RCV004622909]uncertain significance194521328045213280Humanname
407500389CV3438591single nucleotide variantNM_001382422.1(EXOC3L2):c.2276C>T (p.Pro759Leu)not specified [RCV004622910]uncertain significance194521320245213202Humanname
407500385CV3438592single nucleotide variantNM_001382422.1(EXOC3L2):c.1255G>T (p.Val419Phe)not specified [RCV004622911]uncertain significance194523177745231777Humanname
407500376CV3438594single nucleotide variantNM_001077594.2(EXOC3L4):c.2095G>A (p.Ala699Thr)not specified [RCV004622913]uncertain significance14103110149103110149Humanname
407500368CV3438596single nucleotide variantNM_001077594.2(EXOC3L4):c.1583C>T (p.Pro528Leu)not specified [RCV004622915]uncertain significance14103107425103107425Humanname
597715339CV3675154single nucleotide variantNM_001382422.1(EXOC3L2):c.1672C>T (p.Arg558Trp)not specified [RCV004918214]uncertain significance194522482545224825Humanname
597715350CV3675155single nucleotide variantNM_001382422.1(EXOC3L2):c.2278C>T (p.Arg760Cys)not specified [RCV004918215]uncertain significance194521320045213200Humanname
597715361CV3675156single nucleotide variantNM_001382422.1(EXOC3L2):c.1612G>T (p.Gly538Trp)not specified [RCV004918216]uncertain significance194522488545224885Humanname
597715373CV3675157single nucleotide variantNM_001382422.1(EXOC3L2):c.1594G>A (p.Glu532Lys)not specified [RCV004918217]uncertain significance194522490345224903Humanname
597715385CV3675158single nucleotide variantNM_001382422.1(EXOC3L2):c.2396G>C (p.Arg799Pro)not specified [RCV004918218]uncertain significance194521308245213082Humanname
597715395CV3675159single nucleotide variantNM_001382422.1(EXOC3L2):c.2377C>G (p.Pro793Ala)not specified [RCV004918219]uncertain significance194521310145213101Humanname
597715407CV3675160single nucleotide variantNM_001382422.1(EXOC3L2):c.1235G>A (p.Arg412Gln)not specified [RCV004918220]uncertain significance194523179745231797Humanname
597715416CV3675161single nucleotide variantNM_001382422.1(EXOC3L2):c.1229C>A (p.Thr410Asn)not specified [RCV004918221]uncertain significance194523180345231803Humanname
597715429CV3675162single nucleotide variantNM_001382422.1(EXOC3L2):c.1199G>A (p.Gly400Glu)not specified [RCV004918222]uncertain significance194523183345231833Humanname
597715438CV3675163single nucleotide variantNM_001077594.2(EXOC3L4):c.1666G>A (p.Gly556Ser)not specified [RCV004918223]uncertain significance14103107508103107508Humanname
597715450CV3675164single nucleotide variantNM_001077594.2(EXOC3L4):c.2081C>T (p.Ala694Val)not specified [RCV004918224]likely benign14103110135103110135Humanname
597715479CV3675167single nucleotide variantNM_001077594.2(EXOC3L4):c.1072G>A (p.Gly358Arg)not specified [RCV004918227]uncertain significance14103103963103103963Humanname
597715498CV3675169single nucleotide variantNM_001077594.2(EXOC3L4):c.1166A>G (p.Lys389Arg)not specified [RCV004918229]uncertain significance14103104271103104271Humanname
597715506CV3675170single nucleotide variantNM_001077594.2(EXOC3L4):c.1429C>G (p.His477Asp)not specified [RCV004918230]uncertain significance14103105035103105035Humanname
597715550CV3675174single nucleotide variantNM_001077594.2(EXOC3L4):c.1598T>C (p.Val533Ala)not specified [RCV004918234]uncertain significance14103107440103107440Humanname
597715563CV3675175single nucleotide variantNM_001077594.2(EXOC3L4):c.1313G>T (p.Gly438Val)not specified [RCV004918235]uncertain significance14103104766103104766Humanname
597886821CV3855214single nucleotide variantNM_001382422.1(EXOC3L2):c.2392C>G (p.Pro798Ala)not provided [RCV005199859]uncertain significance194521308645213086Humanname
598210588CV3954792single nucleotide variantNM_001382422.1(EXOC3L2):c.2104G>A (p.Asp702Asn)not specified [RCV005338771]uncertain significance194521608945216089Humanname
598210595CV3954793single nucleotide variantNM_001382422.1(EXOC3L2):c.1492C>G (p.Arg498Gly)not specified [RCV005338772]uncertain significance194522775345227753Humanname
598210602CV3954794single nucleotide variantNM_001382422.1(EXOC3L2):c.2161C>T (p.Arg721Cys)not specified [RCV005338773]uncertain significance194521331745213317Humanname
598210614CV3954796single nucleotide variantNM_001077594.2(EXOC3L4):c.1679G>A (p.Arg560His)not specified [RCV005338775]likely benign14103107521103107521Humanname
598210620CV3954799single nucleotide variantNM_001077594.2(EXOC3L4):c.1778G>A (p.Arg593Gln)not specified [RCV005338776]uncertain significance14103107707103107707Humanname
598210628CV3954800single nucleotide variantNM_001077594.2(EXOC3L4):c.2084C>A (p.Ala695Glu)not specified [RCV005338777]uncertain significance14103110138103110138Humanname
598210637CV3954801single nucleotide variantNM_001077594.2(EXOC3L4):c.2020C>T (p.Arg674Cys)not specified [RCV005338778]likely benign14103110074103110074Humanname
598210644CV3954802single nucleotide variantNM_001077594.2(EXOC3L4):c.1910G>A (p.Gly637Asp)not specified [RCV005338779]uncertain significance14103108451103108451Humanname
598210651CV3954803single nucleotide variantNM_001077594.2(EXOC3L4):c.1966C>G (p.Pro656Ala)not specified [RCV005338780]uncertain significance14103108507103108507Humanname
598210660CV3954804single nucleotide variantNM_001077594.2(EXOC3L4):c.1974C>G (p.Ile658Met)not specified [RCV005338781]uncertain significance14103108515103108515Humanname
598210667CV3954805single nucleotide variantNM_001077594.2(EXOC3L4):c.1789C>T (p.Arg597Cys)not specified [RCV005338782]uncertain significance14103107718103107718Humanname
598210675CV3954806single nucleotide variantNM_001077594.2(EXOC3L4):c.1446C>G (p.Ile482Met)not specified [RCV005338783]uncertain significance14103105052103105052Humanname
598210682CV3954807single nucleotide variantNM_001077594.2(EXOC3L4):c.2071G>T (p.Ala691Ser)not specified [RCV005338784]uncertain significance14103110125103110125Humanname