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


162 records found for search term Trpa1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405270097CV3215353single nucleotide variantNM_007332.3(TRPA1):c.-9G>ATRPA1-related disorder [RCV003949114]likely benign87207541872075418Humanname , trait , alternate_id
8650595CV127170single nucleotide variantNM_007332.2(TRPA1):c.*597G>TLung cancer [RCV000107657]uncertain significance87202230972022309Humanname
151663257CV1333854single nucleotide variantNM_007332.3(TRPA1):c.2869-6C>AFamilial episodic pain syndrome with predominantly upper body involvement [RCV001838957]|not provided [RCV004713122]benign87202997572029975Human1name
405256987CV3185346single nucleotide variantNM_007332.3(TRPA1):c.3052-6C>TTRPA1-related disorder [RCV003909215]|not provided [RCV003885910]benign|likely benign87202391772023917Human1name , trait , alternate_id
405276342CV3193383deletionNM_007332.3(TRPA1):c.1195-8delTRPA1-related disorder [RCV003974550]benign87205586372055863Humanname , trait , alternate_id
405295402CV3204694duplicationNM_007332.3(TRPA1):c.1094-3dupTRPA1-related disorder [RCV003937351]likely benign87205701972057020Humanname , trait , alternate_id
405285883CV3221596single nucleotide variantNM_007332.3(TRPA1):c.1812-3C>TTRPA1-related disorder [RCV003981316]benign87205087472050874Humanname , trait , alternate_id
15120546CV744401single nucleotide variantNM_007332.3(TRPA1):c.1194+8A>Gnot provided [RCV000895912]likely benign87205690972056909Humanname
15167094CV779292single nucleotide variantNM_007332.3(TRPA1):c.2937+6T>Cnot provided [RCV000971326]benign|likely benign87202989572029895Humanname
151663252CV1333852single nucleotide variantNM_007332.3(TRPA1):c.2938-24C>GFamilial episodic pain syndrome with predominantly upper body involvement [RCV001838955]|not provided [RCV004713120]benign87202609772026097Human1name
151663255CV1333853single nucleotide variantNM_007332.3(TRPA1):c.2938-49T>GFamilial episodic pain syndrome with predominantly upper body involvement [RCV001838956]|not provided [RCV004713121]benign87202612272026122Human1name
151663261CV1333855single nucleotide variantNM_007332.3(TRPA1):c.1905+28C>TFamilial episodic pain syndrome with predominantly upper body involvement [RCV001838958]|not provided [RCV004713123]benign87205075072050750Human1name
151663262CV1333856single nucleotide variantNM_007332.3(TRPA1):c.1644+15C>TFamilial episodic pain syndrome with predominantly upper body involvement [RCV001838959]|not provided [RCV004713124]benign87205373872053738Human1name
151663265CV1333858single nucleotide variantNM_007332.3(TRPA1):c.1530-22T>CFamilial episodic pain syndrome with predominantly upper body involvement [RCV001838961]|not provided [RCV004713125]benign87205388972053889Human1name
405275476CV3196297single nucleotide variantNM_007332.3(TRPA1):c.2555+10G>ATRPA1-related disorder [RCV003974158]likely benign87203627872036278Humanname , trait , alternate_id
596941893CV3543905single nucleotide variantNM_007332.3(TRPA1):c.2062-10T>Anot specified [RCV004799895]likely benign87203980772039807Humanname
617151475CV4017995single nucleotide variantNM_007332.3(TRPA1):c.1644+12G>Anot specified [RCV005417785]likely benign87205374172053741Humanname
8650596CV127171single nucleotide variantNM_007332.2(TRPA1):c.444+1267C>TLung cancer [RCV000107658]uncertain significance87206775672067756Humanname
405286791CV3205492single nucleotide variantNM_007332.3(TRPA1):c.180C>T (p.Asp60=)TRPA1-related disorder [RCV003959653]likely benign87207179972071799Humanname , trait , alternate_id
150509002CV1229782single nucleotide variantNM_007332.3(TRPA1):c.375T>C (p.Asn125=)Familial episodic pain syndrome with predominantly upper body involvement [RCV001838722]|not provided [RCV001636361]benign87206909272069092Human1name
329361052CV2436624single nucleotide variantNM_007332.3(TRPA1):c.58G>A (p.Val20Ile)not specified [RCV004258001]uncertain significance87207535272075352Humanname
401924050CV2821135single nucleotide variantNM_007332.3(TRPA1):c.970C>T (p.Leu324=)not provided [RCV003435526]uncertain significance87205941372059413Humanname
405284121CV3200487single nucleotide variantNM_007332.3(TRPA1):c.384C>T (p.Asn128=)TRPA1-related disorder [RCV003979509]benign87206908372069083Humanname , trait , alternate_id
405286607CV3205327single nucleotide variantNM_007332.3(TRPA1):c.315T>C (p.Ala105=)TRPA1-related disorder [RCV003959523]likely benign87206915272069152Humanname , trait , alternate_id
405288756CV3209854single nucleotide variantNM_007332.3(TRPA1):c.682A>C (p.Arg228=)TRPA1-related disorder [RCV003961358]benign87206292472062924Humanname , trait , alternate_id
405294497CV3211531single nucleotide variantNM_007332.3(TRPA1):c.339C>T (p.Ser113=)TRPA1-related disorder [RCV003934396]likely benign87206912872069128Humanname , trait , alternate_id
405760820CV3344224single nucleotide variantNM_007332.3(TRPA1):c.65A>G (p.Tyr22Cys)not specified [RCV004468589]uncertain significance87207534572075345Humanname
616933850CV4011819single nucleotide variantNM_007332.3(TRPA1):c.639C>T (p.Cys213=)not specified [RCV005408368]likely benign87206348572063485Humanname
15106135CV751242single nucleotide variantNM_007332.3(TRPA1):c.837T>C (p.Ala279=)not provided [RCV000915686]likely benign87206173272061732Humanname
126738940CV1000634single nucleotide variantNM_007332.3(TRPA1):c.1539T>C (p.Asn513=)not provided [RCV001312179]likely benign87205385872053858Humanname
151663263CV1333857single nucleotide variantNM_007332.3(TRPA1):c.1630C>T (p.Leu544=)Familial episodic pain syndrome with predominantly upper body involvement [RCV001838960]|not provided [RCV004711733]benign87205376772053767Human1name
152982261CV1677209duplicationNM_007332.3(TRPA1):c.326dup (p.Asn109fs)not specified [RCV002248914]uncertain significance87206914072069141Humanname
153349765CV1693939single nucleotide variantNM_007332.3(TRPA1):c.2886C>T (p.Gly962=)TRPA1-related disorder [RCV003943342]|not provided [RCV002276184]benign|likely benign87202995272029952Human1name , trait , alternate_id
155916304CV2239700single nucleotide variantNM_007332.3(TRPA1):c.125G>A (p.Gly42Glu)not specified [RCV004108244]uncertain significance87207185472071854Humanname
156181360CV2255085single nucleotide variantNM_007332.3(TRPA1):c.248C>A (p.Thr83Asn)not specified [RCV004115719]uncertain significance87207173172071731Humanname
155922020CV2350759single nucleotide variantNM_007332.3(TRPA1):c.123A>C (p.Glu41Asp)not specified [RCV004207098]uncertain significance87207185672071856Humanname
401924059CV2821134single nucleotide variantNM_007332.3(TRPA1):c.1476T>C (p.Asn492=)not provided [RCV003435525]likely benign87205548972055489Humanname
405280000CV3200250single nucleotide variantNM_007332.3(TRPA1):c.2592G>A (p.Glu864=)TRPA1-related disorder [RCV003977166]likely benign87203434172034341Humanname , trait , alternate_id
405266682CV3202007single nucleotide variantNM_007332.3(TRPA1):c.2046G>A (p.Pro682=)TRPA1-related disorder [RCV003911490]likely benign87204652872046528Humanname , trait , alternate_id
405255834CV3208342single nucleotide variantNM_007332.3(TRPA1):c.1434T>G (p.Gly478=)TRPA1-related disorder [RCV003939454]likely benign87205553172055531Humanname , trait , alternate_id
405270442CV3211443single nucleotide variantNM_007332.3(TRPA1):c.2124C>T (p.Leu708=)TRPA1-related disorder [RCV003949333]likely benign87203973572039735Humanname , trait , alternate_id
405266511CV3211877single nucleotide variantNM_007332.3(TRPA1):c.1917T>C (p.Asp639=)TRPA1-related disorder [RCV003947155]likely benign87204719672047196Humanname , trait , alternate_id
405283436CV3217148single nucleotide variantNM_007332.3(TRPA1):c.2490G>A (p.Leu830=)TRPA1-related disorder [RCV003979257]benign87203635372036353Humanname , trait , alternate_id
405267926CV3219542single nucleotide variantNM_007332.3(TRPA1):c.2814T>C (p.Phe938=)TRPA1-related disorder [RCV003969750]likely benign87203369872033698Humanname , trait , alternate_id
405265730CV3220856single nucleotide variantNM_007332.3(TRPA1):c.2442G>A (p.Thr814=)TRPA1-related disorder [RCV003969025]benign87203640172036401Humanname , trait , alternate_id
405760767CV3344215single nucleotide variantNM_007332.3(TRPA1):c.181G>A (p.Asp61Asn)not specified [RCV004468580]uncertain significance87207179872071798Humanname
405760786CV3344219single nucleotide variantNM_007332.3(TRPA1):c.227T>A (p.Ile76Asn)not specified [RCV004468584]uncertain significance87207175272071752Humanname
405760794CV3344220single nucleotide variantNM_007332.3(TRPA1):c.278A>G (p.Glu93Gly)not specified [RCV004468585]uncertain significance87206918972069189Humanname
407461714CV3488751single nucleotide variantNM_007332.3(TRPA1):c.202C>T (p.His68Tyr)not specified [RCV004687723]uncertain significance87207177772071777Humanname
596945725CV3548037single nucleotide variantNM_007332.3(TRPA1):c.1563G>A (p.Ala521=)not provided [RCV004809368]likely benign87205383472053834Humanname
597679814CV3621885single nucleotide variantNM_007332.3(TRPA1):c.186G>A (p.Met62Ile)not specified [RCV004883414]uncertain significance87207179372071793Humanname
598214961CV3932060single nucleotide variantNM_007332.3(TRPA1):c.162G>T (p.Lys54Asn)not specified [RCV005292625]uncertain significance87207181772071817Humanname
13518533CV486443single nucleotide variantNM_007332.3(TRPA1):c.145A>G (p.Asn49Asp)not provided [RCV000584886]likely benign|uncertain significance87207183472071834Humanname
15186388CV700649single nucleotide variantNM_007332.3(TRPA1):c.1965T>C (p.Tyr655=)not provided [RCV000953267]benign|likely benign87204714872047148Humanname
15136500CV736748single nucleotide variantNM_007332.3(TRPA1):c.2277A>G (p.Ser759=)not provided [RCV000898638]benign|likely benign87203888372038883Humanname
8633080CV88293single nucleotide variantNM_007332.2(TRPA1):c.2775A>C (p.Pro925=)Malignant melanoma [RCV000068385]not provided87203373772033737Humanname
126744706CV1020513single nucleotide variantNM_007332.3(TRPA1):c.925C>T (p.His309Tyr)Familial episodic pain syndrome with predominantly upper body involvement [RCV001337090]|not specified [RCV004035821]uncertain significance87206164472061644Human1name
151353036CV1326687single nucleotide variantNM_007332.3(TRPA1):c.763A>G (p.Ile255Val)not provided [RCV001815971]|not specified [RCV004040955]likely benign|uncertain significance87206284372062843Humanname
151663266CV1333859single nucleotide variantNM_007332.3(TRPA1):c.558A>C (p.Lys186Asn)Familial episodic pain syndrome with predominantly upper body involvement [RCV001838962]|not provided [RCV004713126]benign87206356672063566Human1name
152103634CV1667488deletionNM_007332.3(TRPA1):c.2400del (p.Phe800fs)not provided [RCV002214476]uncertain significance87203644372036443Humanname
156075178CV2198075single nucleotide variantNM_007332.3(TRPA1):c.365C>T (p.Ala122Val)not provided [RCV003326648]|not specified [RCV004079677]benign|likely benign|uncertain significance87206910272069102Humanname
156400676CV2207063single nucleotide variantNM_007332.3(TRPA1):c.878C>T (p.Ser293Leu)not specified [RCV004085672]uncertain significance87206169172061691Humanname
156296507CV2236574single nucleotide variantNM_007332.3(TRPA1):c.512T>C (p.Ile171Thr)not specified [RCV004110567]uncertain significance87206549172065491Humanname
156127864CV2283832single nucleotide variantNM_007332.3(TRPA1):c.818G>A (p.Cys273Tyr)not specified [RCV004142346]uncertain significance87206175172061751Humanname
156276249CV2316521single nucleotide variantNM_007332.3(TRPA1):c.563G>C (p.Gly188Ala)not specified [RCV004169989]uncertain significance87206356172063561Humanname
243064221CV2411268deletionNM_007332.3(TRPA1):c.1743del (p.Ser582fs)Familial episodic pain syndrome with predominantly upper body involvement [RCV003142840]uncertain significance87205266772052667Human1name
329351892CV2455446single nucleotide variantNM_007332.3(TRPA1):c.595T>C (p.Cys199Arg)not specified [RCV004276718]uncertain significance87206352972063529Humanname
329353284CV2477052deletionNM_007332.3(TRPA1):c.1860del (p.Lys620fs)not provided [RCV003223284]uncertain significance87205082372050823Humanname
401760650CV2706034single nucleotide variantNM_007332.3(TRPA1):c.587A>G (p.Lys196Arg)not specified [RCV004314735]uncertain significance87206353772063537Humanname
401862642CV2768509single nucleotide variantNM_007332.3(TRPA1):c.394A>G (p.Met132Val)not specified [RCV004344391]uncertain significance87206907372069073Humanname
401880121CV2783101single nucleotide variantNM_007332.3(TRPA1):c.626G>T (p.Gly209Val)not specified [RCV004363455]uncertain significance87206349872063498Humanname
405290750CV3197134single nucleotide variantNM_007332.3(TRPA1):c.535G>A (p.Glu179Lys)TRPA1-related disorder [RCV003984696]benign87206546872065468Humanname , trait , alternate_id
407456096CV3415753single nucleotide variantNM_007332.3(TRPA1):c.380G>A (p.Arg127Gln)not provided [RCV004598629]likely benign87206908772069087Humanname
407454347CV3488749single nucleotide variantNM_007332.3(TRPA1):c.331A>G (p.Ile111Val)not specified [RCV004685033]likely benign87206913672069136Humanname
597679797CV3621883single nucleotide variantNM_007332.3(TRPA1):c.511A>T (p.Ile171Phe)not specified [RCV004883412]uncertain significance87206549272065492Humanname
597679871CV3621892single nucleotide variantNM_007332.3(TRPA1):c.689T>C (p.Leu230Ser)not specified [RCV004883421]likely benign87206291772062917Humanname
597679880CV3621893single nucleotide variantNM_007332.3(TRPA1):c.566C>A (p.Ala189Asp)not specified [RCV004883422]uncertain significance87206355872063558Humanname
15172054CV700650single nucleotide variantNM_007332.3(TRPA1):c.895G>A (p.Val299Met)not provided [RCV000949946]benign87206167472061674Humanname
15102847CV723181single nucleotide variantNM_007332.3(TRPA1):c.327C>A (p.Asn109Lys)not provided [RCV000892559]benign|likely benign87206914072069140Humanname
126910991CV1037874single nucleotide variantNM_007332.3(TRPA1):c.2821C>A (p.Leu941Ile)not provided [RCV001354886]|not specified [RCV004036723]uncertain significance87203369172033691Humanname
126912333CV1037875single nucleotide variantNM_007332.3(TRPA1):c.1952G>T (p.Cys651Phe)not provided [RCV001356410]uncertain significance87204716172047161Humanname
126914770CV1037876single nucleotide variantNM_007332.3(TRPA1):c.1372C>T (p.Arg458Cys)not provided [RCV001358544]uncertain significance87205559372055593Humanname
150547320CV1291978single nucleotide variantNM_007332.3(TRPA1):c.2520C>A (p.Tyr840Ter)not specified [RCV001733644]uncertain significance87203632372036323Humanname
151353531CV1326685single nucleotide variantNM_007332.3(TRPA1):c.2044C>T (p.Pro682Ser)not provided [RCV001816497]uncertain significance87204653072046530Humanname
151353532CV1326686single nucleotide variantNM_007332.3(TRPA1):c.1954C>T (p.Arg652Ter)not provided [RCV001816498]likely benign87204715972047159Humanname
155643383CV1707816single nucleotide variantNM_007332.3(TRPA1):c.1015G>A (p.Asp339Asn)Familial episodic pain syndrome with predominantly upper body involvement [RCV002289277]|not specified [RCV005301146]uncertain significance87205779572057795Human1name
155642242CV1710094single nucleotide variantNM_007332.3(TRPA1):c.2986C>T (p.Arg996Cys)TRPA1-related disorder [RCV003971234]|not provided [RCV002293194]benign|likely benign87202602572026025Human1name , trait , alternate_id
155961299CV1936544single nucleotide variantNM_007332.3(TRPA1):c.1257T>A (p.Tyr419Ter)not provided [RCV002512361]uncertain significance87205579372055793Humanname
156365477CV2193212single nucleotide variantNM_007332.3(TRPA1):c.2294C>T (p.Thr765Met)not provided [RCV004721127]|not specified [RCV004071202]likely benign|uncertain significance87203886672038866Humanname
156234819CV2193337single nucleotide variantNM_007332.3(TRPA1):c.1968C>G (p.Ile656Met)not specified [RCV004072842]uncertain significance87204660672046606Humanname
156380001CV2211726single nucleotide variantNM_007332.3(TRPA1):c.2750A>G (p.Asn917Ser)not specified [RCV004084608]uncertain significance87203376272033762Humanname
156154473CV2242308single nucleotide variantNM_007332.3(TRPA1):c.1860A>C (p.Lys620Asn)not specified [RCV004111323]uncertain significance87205082372050823Humanname
155990131CV2258904single nucleotide variantNM_007332.3(TRPA1):c.1562C>T (p.Ala521Val)not specified [RCV004118108]uncertain significance87205383572053835Humanname
156145287CV2265039single nucleotide variantNM_007332.3(TRPA1):c.2197A>G (p.Met733Val)not specified [RCV004126197]uncertain significance87203896372038963Humanname
155950538CV2301954single nucleotide variantNM_007332.3(TRPA1):c.2401A>G (p.Met801Val)not specified [RCV004156729]uncertain significance87203644272036442Humanname
156244727CV2313231single nucleotide variantNM_007332.3(TRPA1):c.1190T>G (p.Met397Arg)not specified [RCV004161483]uncertain significance87205692172056921Humanname
156275378CV2316450single nucleotide variantNM_007332.3(TRPA1):c.1187T>G (p.Phe396Cys)not specified [RCV004169936]uncertain significance87205692472056924Humanname
156359499CV2328214single nucleotide variantNM_007332.3(TRPA1):c.1879A>G (p.Ile627Val)not specified [RCV004173306]likely benign87205080472050804Humanname
156187540CV2332793single nucleotide variantNM_007332.3(TRPA1):c.1404C>G (p.Asp468Glu)not specified [RCV004189461]uncertain significance87205556172055561Humanname
156339879CV2367725single nucleotide variantNM_007332.3(TRPA1):c.1234G>A (p.Asp412Asn)Familial episodic pain syndrome with predominantly upper body involvement [RCV005399221]|not specified [RCV004213687]uncertain significance87205581672055816Human1name
156162259CV2371680single nucleotide variantNM_007332.3(TRPA1):c.1100A>G (p.Gln367Arg)not specified [RCV004216918]likely benign87205701172057011Humanname
156209096CV2382580single nucleotide variantNM_007332.3(TRPA1):c.1405A>G (p.Ile469Val)not provided [RCV003434682]|not specified [RCV004232907]benign|likely benign|uncertain significance87205556072055560Humanname
156110186CV2387605single nucleotide variantNM_007332.3(TRPA1):c.1969G>A (p.Glu657Lys)not specified [RCV004234156]uncertain significance87204660572046605Humanname
156201001CV2392458single nucleotide variantNM_007332.3(TRPA1):c.1415C>T (p.Thr472Met)not specified [RCV004244035]uncertain significance87205555072055550Humanname
329376492CV2472081single nucleotide variantNM_007332.3(TRPA1):c.1909C>A (p.Leu637Ile)not specified [RCV004283219]uncertain significance87204720472047204Humanname
401760619CV2695105single nucleotide variantNM_007332.3(TRPA1):c.1438C>T (p.Leu480Phe)not specified [RCV004303261]uncertain significance87205552772055527Humanname
401753872CV2719095single nucleotide variantNM_007332.3(TRPA1):c.2020C>T (p.Pro674Ser)not specified [RCV004324770]uncertain significance87204655472046554Humanname
401750087CV2719510single nucleotide variantNM_007332.3(TRPA1):c.2188C>T (p.Leu730Phe)not specified [RCV004326902]uncertain significance87203897272038972Humanname
401781543CV2731664single nucleotide variantNM_007332.3(TRPA1):c.2519A>C (p.Tyr840Ser)not specified [RCV004331768]uncertain significance87203632472036324Humanname
401730605CV2736556single nucleotide variantNM_007332.3(TRPA1):c.2065A>G (p.Met689Val)Familial episodic pain syndrome with predominantly upper body involvement [RCV003313016]uncertain significance87203979472039794Human1name
401856002CV2754207single nucleotide variantNM_007332.3(TRPA1):c.2932A>G (p.Met978Val)not specified [RCV004334396]uncertain significance87202990672029906Humanname
401885768CV2774514single nucleotide variantNM_007332.3(TRPA1):c.1273G>A (p.Gly425Ser)not specified [RCV004350003]uncertain significance87205577772055777Humanname
401882726CV2778418single nucleotide variantNM_007332.3(TRPA1):c.1859A>G (p.Lys620Arg)not specified [RCV004344095]likely benign87205082472050824Humanname
401945069CV2840670single nucleotide variantNM_007332.3(TRPA1):c.2755C>T (p.Arg919Ter)Familial episodic pain syndrome with predominantly upper body involvement [RCV005399405]|not provided [RCV003457538]likely benign|uncertain significance87203375772033757Human1name
401945067CV2840671single nucleotide variantNM_007332.3(TRPA1):c.1694C>T (p.Ala565Val)not provided [RCV003457539]likely benign87205271672052716Humanname
404978393CV2851313single nucleotide variantNM_007332.3(TRPA1):c.2581G>T (p.Val861Phe)Familial episodic pain syndrome with predominantly upper body involvement [RCV003487097]uncertain significance87203435272034352Human1name
405268784CV3187128single nucleotide variantNM_007332.3(TRPA1):c.1729A>G (p.Asn577Asp)not provided [RCV003887212]uncertain significance87205268172052681Humanname
405699695CV3227225single nucleotide variantNM_007332.3(TRPA1):c.2074A>C (p.Asn692His)Familial episodic pain syndrome with predominantly upper body involvement [RCV003993576]uncertain significance87203978572039785Human1name
405760735CV3344209single nucleotide variantNM_007332.3(TRPA1):c.1144A>G (p.Thr382Ala)not specified [RCV004468574]uncertain significance87205696772056967Humanname
405760740CV3344210single nucleotide variantNM_007332.3(TRPA1):c.1393C>A (p.Leu465Ile)not specified [RCV004468575]uncertain significance87205557272055572Humanname
405760745CV3344211single nucleotide variantNM_007332.3(TRPA1):c.1439T>A (p.Leu480His)not specified [RCV004468576]uncertain significance87205552672055526Humanname
405760749CV3344212single nucleotide variantNM_007332.3(TRPA1):c.1511A>G (p.Lys504Arg)not specified [RCV004468577]uncertain significance87205545472055454Humanname
405760755CV3344213single nucleotide variantNM_007332.3(TRPA1):c.1573G>A (p.Gly525Arg)not specified [RCV004468578]uncertain significance87205382472053824Humanname
405760761CV3344214single nucleotide variantNM_007332.3(TRPA1):c.1713T>G (p.Asn571Lys)not specified [RCV004468579]uncertain significance87205269772052697Humanname
405760772CV3344216single nucleotide variantNM_007332.3(TRPA1):c.1937C>G (p.Thr646Arg)not specified [RCV004468581]uncertain significance87204717672047176Humanname
405760777CV3344217single nucleotide variantNM_007332.3(TRPA1):c.1988T>A (p.Leu663His)not specified [RCV004468582]uncertain significance87204658672046586Humanname
405760784CV3344218single nucleotide variantNM_007332.3(TRPA1):c.2249G>A (p.Gly750Asp)not specified [RCV004468583]uncertain significance87203891172038911Humanname
405760802CV3344221single nucleotide variantNM_007332.3(TRPA1):c.2899G>T (p.Val967Phe)not specified [RCV004468586]uncertain significance87202993972029939Humanname
407454342CV3488746single nucleotide variantNM_007332.3(TRPA1):c.2036T>C (p.Ile679Thr)not specified [RCV004685031]likely benign87204653872046538Humanname
407454345CV3488748single nucleotide variantNM_007332.3(TRPA1):c.1028G>A (p.Arg343His)not specified [RCV004685032]uncertain significance87205778272057782Humanname
407454348CV3488750single nucleotide variantNM_007332.3(TRPA1):c.2558T>G (p.Phe853Cys)not specified [RCV004685034]uncertain significance87203437572034375Humanname
407454350CV3488752single nucleotide variantNM_007332.3(TRPA1):c.1147G>A (p.Val383Ile)not specified [RCV004685035]uncertain significance87205696472056964Humanname
407454352CV3488753single nucleotide variantNM_007332.3(TRPA1):c.1088C>G (p.Ser363Cys)not specified [RCV004685036]uncertain significance87205772272057722Humanname
407501832CV3495631single nucleotide variantNM_007332.3(TRPA1):c.2978G>A (p.Trp993Ter)not provided [RCV004697471]uncertain significance87202603372026033Humanname
596920466CV3534629single nucleotide variantNM_007332.3(TRPA1):c.1793C>T (p.Thr598Met)not specified [RCV004782190]uncertain significance87205261772052617Humanname
596945430CV3547907single nucleotide variantNM_007332.3(TRPA1):c.1177C>T (p.Arg393Ter)not provided [RCV004809238]likely benign87205693472056934Humanname
597679804CV3621884single nucleotide variantNM_007332.3(TRPA1):c.1453C>T (p.Pro485Ser)not specified [RCV004883413]uncertain significance87205551272055512Humanname
597679820CV3621886single nucleotide variantNM_007332.3(TRPA1):c.1570G>A (p.Gly524Ser)not specified [RCV004883415]uncertain significance87205382772053827Humanname
597679828CV3621887single nucleotide variantNM_007332.3(TRPA1):c.1233C>G (p.Asn411Lys)not specified [RCV004883416]uncertain significance87205581772055817Humanname
597679835CV3621888single nucleotide variantNM_007332.3(TRPA1):c.1267C>G (p.Gln423Glu)not specified [RCV004883417]uncertain significance87205578372055783Humanname
597679844CV3621889single nucleotide variantNM_007332.3(TRPA1):c.1924A>G (p.Met642Val)not specified [RCV004883418]uncertain significance87204718972047189Humanname
597679853CV3621890single nucleotide variantNM_007332.3(TRPA1):c.1270G>C (p.Gly424Arg)not specified [RCV004883419]uncertain significance87205578072055780Humanname
597679864CV3621891single nucleotide variantNM_007332.3(TRPA1):c.1748T>C (p.Phe583Ser)not specified [RCV004883420]uncertain significance87205266272052662Humanname
598129202CV3888495single nucleotide variantNM_007332.3(TRPA1):c.2305C>A (p.Leu769Ile)not provided [RCV005244669]uncertain significance87203806372038063Humanname
598204693CV3896710single nucleotide variantNM_007332.3(TRPA1):c.1384T>C (p.Cys462Arg)Familial episodic pain syndrome with predominantly upper body involvement [RCV005356904]uncertain significance87205558172055581Human1name
598214954CV3932059single nucleotide variantNM_007332.3(TRPA1):c.1283C>T (p.Ser428Phe)not specified [RCV005292624]uncertain significance87205576772055767Humanname
598236596CV3932061single nucleotide variantNM_007332.3(TRPA1):c.2633T>C (p.Ile878Thr)not specified [RCV005296058]uncertain significance87203430072034300Humanname
598236600CV3932062single nucleotide variantNM_007332.3(TRPA1):c.1767C>A (p.His589Gln)not specified [RCV005296059]uncertain significance87205264372052643Humanname
598236605CV3932063single nucleotide variantNM_007332.3(TRPA1):c.2233G>A (p.Ala745Thr)not specified [RCV005296060]uncertain significance87203892772038927Humanname
617153120CV4021092single nucleotide variantNM_007332.3(TRPA1):c.1027C>T (p.Arg343Cys)not provided [RCV005428845]likely benign87205778372057783Humanname
13462810CV438718single nucleotide variantNM_007332.3(TRPA1):c.1878G>A (p.Met626Ile)not provided [RCV000514855]benign|likely benign87205080572050805Humanname
8604295CV48201single nucleotide variantNM_007332.3(TRPA1):c.2564A>G (p.Asn855Ser)Familial episodic pain syndrome with predominantly upper body involvement [RCV000032802]pathogenic87203436972034369Human1name
14978154CV677303single nucleotide variantNM_007332.3(TRPA1):c.2194C>G (p.Pro732Ala)Familial episodic pain syndrome with predominantly upper body involvement [RCV000850373]uncertain significance87203896672038966Human1name
28896869CV859685single nucleotide variantNM_007332.3(TRPA1):c.2489T>C (p.Leu830Pro)not provided [RCV001092876]uncertain significance87203635472036354Humanname
38459986CV919175single nucleotide variantNM_007332.3(TRPA1):c.2366C>T (p.Ala789Val)Familial episodic pain syndrome with predominantly upper body involvement [RCV001196264]uncertain significance87203800272038002Human1name
150336782CV1165884single nucleotide variantNM_007332.3(TRPA1):c.3124A>G (p.Met1042Val)not provided [RCV001532148]|not specified [RCV004039226]uncertain significance87202383972023839Humanname
151663250CV1333851single nucleotide variantNM_007332.3(TRPA1):c.3053A>G (p.His1018Arg)Familial episodic pain syndrome with predominantly upper body involvement [RCV001838954]|TRPA1-related disorder [RCV003984122]|not provided [RCV004713119]benign87202391072023910Human1name , trait , alternate_id
405760809CV3344222single nucleotide variantNM_007332.3(TRPA1):c.3166T>C (p.Phe1056Leu)not specified [RCV004468587]uncertain significance87202310072023100Humanname
405760814CV3344223single nucleotide variantNM_007332.3(TRPA1):c.3350T>C (p.Leu1117Pro)not specified [RCV004468588]likely benign87202291672022916Humanname
617153380CV4018552single nucleotide variantNM_007332.3(TRPA1):c.3252T>G (p.His1084Gln)not specified [RCV005418814]likely benign87202301472023014Humanname
127287205CV1152350deletionNM_007332.3(TRPA1):c.3091_3095del (p.Gln1031fs)not provided [RCV001507736]uncertain significance87202386872023872Humanname
596948326CV3549409indelNM_007332.3(TRPA1):c.3052_3053delinsAG (p.His1018Ser)not provided [RCV004812229]uncertain significance87202391072023911Humanname